Human Phenotype Ontology (HPO) Version 2 Genpanel

Transcription

1 Human Phenotype Ontology (HPO) Version 2 Genpanel # Symbol Genename Chr Genanfang Genende 1 A2M alpha-2-macroglobulin AAAS achalasia, adrenocortical insufficiency, alacrimia AAGAB alpha- and gamma-adaptin binding protein AARS alanyl-trna synthetase AARS2 alanyl-trna synthetase 2, mitochondrial AASS aminoadipate-semialdehyde synthase ABAT 4-aminobutyrate aminotransferase ABCA1 ATP-binding cassette, sub-family A (ABC1), member ABCA12 ATP-binding cassette, sub-family A (ABC1), member ABCA3 ATP-binding cassette, sub-family A (ABC1), member ABCA4 ATP-binding cassette, sub-family A (ABC1), member ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member (Langereis blood group) 16 ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 X ABCC11 ATP-binding cassette, sub-family C (CFTR/MRP), member ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 X ABCD3 ATP-binding cassette, sub-family D (ALD), member ABCD4 ATP-binding cassette, sub-family D (ALD), member ABCG5 ATP-binding cassette, sub-family G (WHITE), member ABCG8 ATP-binding cassette, sub-family G (WHITE), member ABHD12 abhydrolase domain containing ABHD5 abhydrolase domain containing ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ACACA acetyl-coa carboxylase alpha ACAD8 acyl-coa dehydrogenase family, member ACAD9 acyl-coa dehydrogenase family, member ACADL acyl-coa dehydrogenase, long chain ACADM acyl-coa dehydrogenase, C-4 to C-12 straight chain ACADS acyl-coa dehydrogenase, C-2 to C-3 short chain ACADSB acyl-coa dehydrogenase, short/branched chain ACADVL acyl-coa dehydrogenase, very long chain ACAN aggrecan ACAT1 acetyl-coa acetyltransferase ACAT2 acetyl-coa acetyltransferase ACBD6 acyl-coa binding domain containing ACE angiotensin I converting enzyme ACO2 aconitase 2, mitochondrial ACOX1 acyl-coa oxidase 1, palmitoyl ACP2 acid phosphatase 2, lysosomal ACP5 acid phosphatase 5, tartrate resistant ACSF3 acyl-coa synthetase family member ACSL4 acyl-coa synthetase long-chain family member 4 X ACTA1 actin, alpha 1, skeletal muscle ACTA2 actin, alpha 2, smooth muscle, aorta ACTB actin, beta

2 52 ACTC1 actin, alpha, cardiac muscle ACTG1 actin gamma ACTN1 actinin, alpha ACTN2 actinin, alpha ACTN4 actinin, alpha ACVR1 activin A receptor, type I ACVR2B activin A receptor, type IIB ACVRL1 activin A receptor type II-like ACY1 aminoacylase ADA adenosine deaminase ADAM10 ADAM metallopeptidase domain ADAM17 ADAM metallopeptidase domain ADAM9 ADAM metallopeptidase domain ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, ADAMTSL2 ADAMTS-like ADAMTSL4 ADAMTS-like ADAR adenosine deaminase, RNA-specific ADAT3 adenosine deaminase, trna-specific ADCK3 aarf domain containing kinase ADCK4 aarf domain containing kinase ADCY5 adenylate cyclase ADIPOQ adiponectin, C1Q and collagen domain containing ADK adenosine kinase ADRA2B adrenoceptor alpha 2B ADSL adenylosuccinate lyase AFF1 AF4/FMR2 family, member AFF2 AF4/FMR2 family, member 2 X AFG3L2 AFG3-like AAA ATPase AFP alpha-fetoprotein AGA aspartylglucosaminidase AGBL1 ATP/GTP binding protein-like AGK acylglycerol kinase AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase AGO1 argonaute RISC catalytic component AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase AGPS alkylglycerone phosphate synthase AGRN agrin AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) AGTR1 angiotensin II receptor, type AGTR2 angiotensin II receptor, type 2 X AGXT alanine-glyoxylate aminotransferase AHCY adenosylhomocysteinase AHI1 Abelson helper integration site AICDA activation-induced cytidine deaminase AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 X AIMP1 aminoacyl trna synthetase complex-interacting multifunctional protein AIP aryl hydrocarbon receptor interacting protein AIPL1 aryl hydrocarbon receptor interacting protein-like AIRE autoimmune regulator AK1 adenylate kinase AK2 adenylate kinase

3 107 AKAP9 A kinase (PRKA) anchor protein AKR1C2 aldo-keto reductase family 1, member C AKR1D1 aldo-keto reductase family 1, member D AKT1 v-akt murine thymoma viral oncogene homolog AKT2 v-akt murine thymoma viral oncogene homolog AKT3 v-akt murine thymoma viral oncogene homolog ALAD aminolevulinate dehydratase ALAS2 5'-aminolevulinate synthase 2 X ALDH18A1 aldehyde dehydrogenase 18 family, member A ALDH1A1 aldehyde dehydrogenase 1 family, member A ALDH1A3 aldehyde dehydrogenase 1 family, member A ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) ALDH3A2 aldehyde dehydrogenase 3 family, member A ALDH4A1 aldehyde dehydrogenase 4 family, member A ALDH5A1 aldehyde dehydrogenase 5 family, member A ALDH6A1 aldehyde dehydrogenase 6 family, member A ALDH7A1 aldehyde dehydrogenase 7 family, member A ALDOA aldolase A, fructose-bisphosphate ALDOB aldolase B, fructose-bisphosphate ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ALG10 ALG10, alpha-1,2-glucosyltransferase ALG11 ALG11, alpha-1,2-mannosyltransferase ALG12 ALG12, alpha-1,6-mannosyltransferase ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit X ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase ALG3 ALG3, alpha-1,3- mannosyltransferase ALG6 ALG6, alpha-1,3-glucosyltransferase ALG8 ALG8, alpha-1,3-glucosyltransferase ALG9 ALG9, alpha-1,2-mannosyltransferase ALK anaplastic lymphoma receptor tyrosine kinase ALMS1 Alstrom syndrome ALOX12B arachidonate 12-lipoxygenase, 12R type ALOXE3 arachidonate lipoxygenase ALPL alkaline phosphatase, liver/bone/kidney ALS2 amyotrophic lateral sclerosis 2 (juvenile) ALX1 ALX homeobox ALX3 ALX homeobox ALX4 ALX homeobox AMACR alpha-methylacyl-coa racemase AMELX amelogenin, X-linked X AMELY amelogenin, Y-linked Y AMER1 APC membrane recruitment protein 1 X AMH anti-mullerian hormone AMHR2 anti-mullerian hormone receptor, type II AMN amnion associated transmembrane protein AMPD1 adenosine monophosphate deaminase AMT aminomethyltransferase ANG angiogenin, ribonuclease, RNase A family, ANGPTL3 angiopoietin-like ANK1 ankyrin 1, erythrocytic ANK2 ankyrin 2, neuronal ANK3 ankyrin 3, node of Ranvier (ankyrin G) ANKH ANKH inorganic pyrophosphate transport regulator ANKRD11 ankyrin repeat domain ANKRD26 ankyrin repeat domain ANKRD55 ankyrin repeat domain

4 163 ANKS6 ankyrin repeat and sterile alpha motif domain containing ANO10 anoctamin ANO3 anoctamin ANO5 anoctamin ANO6 anoctamin ANTXR1 anthrax toxin receptor ANTXR2 anthrax toxin receptor AP1S1 adaptor-related protein complex 1, sigma 1 subunit AP1S2 adaptor-related protein complex 1, sigma 2 subunit X AP2S1 adaptor-related protein complex 2, sigma 1 subunit AP3B1 adaptor-related protein complex 3, beta 1 subunit AP4B1 adaptor-related protein complex 4, beta 1 subunit AP4E1 adaptor-related protein complex 4, epsilon 1 subunit AP4M1 adaptor-related protein complex 4, mu 1 subunit AP4S1 adaptor-related protein complex 4, sigma 1 subunit AP5Z1 adaptor-related protein complex 5, zeta 1 subunit APC adenomatous polyposis coli APCDD1 adenomatosis polyposis coli down-regulated APOA1 apolipoprotein A-I APOA4 apolipoprotein A-IV APOA5 apolipoprotein A-V APOB apolipoprotein B APOC2 apolipoprotein C-II APOC3 apolipoprotein C-III APOE apolipoprotein E APOL1 apolipoprotein L, APP amyloid beta (A4) precursor protein APRT adenine phosphoribosyltransferase APTX aprataxin AQP2 aquaporin 2 (collecting duct) AQP5 aquaporin AR androgen receptor X ARAF A-Raf proto-oncogene, serine/threonine kinase X ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor (brefeldin A-inhibited) 197 ARG1 arginase ARHGAP26 Rho GTPase activating protein ARHGAP31 Rho GTPase activating protein ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha ARHGEF10 Rho guanine nucleotide exchange factor (GEF) ARHGEF12 Rho guanine nucleotide exchange factor (GEF) ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 X ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9 X ARID1A AT rich interactive domain 1A (SWI-like) ARID1B AT rich interactive domain 1B (SWI1-like) ARID5A AT rich interactive domain 5A (MRF1-like) ARIH1 ariadne RBR E3 ubiquitin protein ligase ARL13B ADP-ribosylation factor-like 13B ARL2BP ADP-ribosylation factor-like 2 binding protein ARL6 ADP-ribosylation factor-like ARMC4 armadillo repeat containing ARSA arylsulfatase A ARSB arylsulfatase B ARSE arylsulfatase E (chondrodysplasia punctata 1) X ARVCF armadillo repeat gene deleted in velocardiofacial syndrome ARX aristaless related homeobox X

5 218 ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) ASCC1 activating signal cointegrator 1 complex subunit ASCC3 activating signal cointegrator 1 complex subunit ASCL1 achaete-scute family bhlh transcription factor ASH1L ash1 (absent, small, or homeotic)-like (Drosophila) ASL argininosuccinate lyase ASNS asparagine synthetase (glutamine-hydrolyzing) ASPA aspartoacylase ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 227 ASPSCR1 alveolar soft part sarcoma chromosome region, candidate ASS1 argininosuccinate synthase ASXL1 additional sex combs like transcriptional regulator ASXL3 additional sex combs like transcriptional regulator ATCAY ataxia, cerebellar, Cayman type ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp cyclohydrolase 233 ATL1 atlastin GTPase ATL3 atlastin GTPase ATM ATM serine/threonine kinase ATN1 atrophin ATOH7 atonal homolog 7 (Drosophila) ATP13A2 ATPase type 13A ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch ATP2B3 ATPase, Ca++ transporting, plasma membrane 3 X ATP2C1 ATPase, Ca++ transporting, type 2C, member ATP5A1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle 246 ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit 247 ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2 X ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B ATP7A ATPase, Cu++ transporting, alpha polypeptide X ATP7B ATPase, Cu++ transporting, beta polypeptide ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member ATPAF2 ATP synthase mitochondrial F1 complex assembly factor ATR ATR serine/threonine kinase ATRIP ATR interacting protein ATRX alpha thalassemia/mental retardation syndrome X-linked X ATXN1 ataxin ATXN10 ataxin ATXN2 ataxin ATXN3 ataxin ATXN7 ataxin ATXN8OS ATXN8 opposite strand (non-protein coding) AUH AU RNA binding protein/enoyl-coa hydratase AURKC aurora kinase C AVP arginine vasopressin

6 268 AVPR2 arginine vasopressin receptor 2 X AXIN1 axin AXIN2 axin B2M beta-2-microglobulin B3GALNT2 beta-1,3-n-acetylgalactosaminyltransferase B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide B3GALTL beta 1,3-galactosyltransferase-like B3GAT3 beta-1,3-glucuronyltransferase B4GALNT1 beta-1,4-n-acetyl-galactosaminyl transferase B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide B9D1 B9 protein domain B9D2 B9 protein domain BAAT bile acid CoA:amino acid N-acyltransferase BAG3 BCL2-associated athanogene BANF1 barrier to autointegration factor BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) BAX BCL2-associated X protein BBS1 Bardet-Biedl syndrome BBS10 Bardet-Biedl syndrome BBS12 Bardet-Biedl syndrome BBS2 Bardet-Biedl syndrome BBS4 Bardet-Biedl syndrome BBS5 Bardet-Biedl syndrome BBS7 Bardet-Biedl syndrome BBS9 Bardet-Biedl syndrome BCAN brevican BCAP31 B-cell receptor-associated protein 31 X BCHE butyrylcholinesterase BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide BCKDK branched chain ketoacid dehydrogenase kinase BCL10 B-cell CLL/lymphoma BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) BCL2 B-cell CLL/lymphoma BCL3 B-cell CLL/lymphoma BCO1 beta-carotene oxygenase BCOR BCL6 corepressor X BCR breakpoint cluster region BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like BDNF brain-derived neurotrophic factor BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 310 BEAN1 brain expressed, associated with NEDD4, BEST1 bestrophin BFSP1 beaded filament structural protein 1, filensin BFSP2 beaded filament structural protein 2, phakinin BHLHA9 basic helix-loop-helix family, member a BICD2 bicaudal D homolog 2 (Drosophila) BIN1 bridging integrator BIRC3 baculoviral IAP repeat containing BLK BLK proto-oncogene, Src family tyrosine kinase BLM Bloom syndrome, RecQ helicase-like BLNK B-cell linker

7 321 BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin BLVRA biliverdin reductase A BMP1 bone morphogenetic protein BMP15 bone morphogenetic protein 15 X BMP2 bone morphogenetic protein BMP4 bone morphogenetic protein BMPER BMP binding endothelial regulator BMPR1A bone morphogenetic protein receptor, type IA BMPR1B bone morphogenetic protein receptor, type IB BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) 332 BOLA3 bola family member BPGM 2,3-bisphosphoglycerate mutase BRAF B-Raf proto-oncogene, serine/threonine kinase BRAT1 BRCA1-associated ATM activator BRCA1 breast cancer 1, early onset BRCA2 breast cancer 2, early onset BRIP1 BRCA1 interacting protein C-terminal helicase BRWD3 bromodomain and WD repeat domain containing 3 X BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) BSND barttin CLCNK-type chloride channel accessory beta subunit BTD biotinidase BTK Bruton agammaglobulinemia tyrosine kinase X BTRC beta-transducin repeat containing E3 ubiquitin protein ligase BUB1 BUB1 mitotic checkpoint serine/threonine kinase BUB1B BUB1 mitotic checkpoint serine/threonine kinase B BUB3 BUB3 mitotic checkpoint protein C10orf11 chromosome 10 open reading frame C10orf2 chromosome 10 open reading frame C12orf57 chromosome 12 open reading frame C12orf65 chromosome 12 open reading frame C15orf41 chromosome 15 open reading frame C19orf12 chromosome 19 open reading frame C1GALT1C1 C1GALT1-specific chaperone 1 X C1QA complement component 1, q subcomponent, A chain C1QB complement component 1, q subcomponent, B chain C1QC complement component 1, q subcomponent, C chain C1QTNF5 C1q and tumor necrosis factor related protein C1R complement component 1, r subcomponent C1R complement component 1, r subcomponent C1S complement component 1, s subcomponent C2 complement component C21orf59 chromosome 21 open reading frame C2orf71 chromosome 2 open reading frame C3 complement component C4A complement component 4A (Rodgers blood group) C4B complement component 4B (Chido blood group) C4orf26 chromosome 4 open reading frame C5 complement component C5orf42 chromosome 5 open reading frame C6 complement component C7 complement component C8A complement component 8, alpha polypeptide C8B complement component 8, beta polypeptide C8orf37 chromosome 8 open reading frame

8 376 C9 complement component C9orf72 chromosome 9 open reading frame CA12 carbonic anhydrase XII CA2 carbonic anhydrase II CA4 carbonic anhydrase IV CA8 carbonic anhydrase VIII CABP2 calcium binding protein CABP4 calcium binding protein CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit X CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit CACNB2 calcium channel, voltage-dependent, beta 2 subunit CACNB4 calcium channel, voltage-dependent, beta 4 subunit CACNG2 calcium channel, voltage-dependent, gamma subunit CALM1 calmodulin 1 (phosphorylase kinase, delta) CALR calreticulin CALR3 calreticulin CAMK2G calcium/calmodulin-dependent protein kinase II gamma CAMTA1 calmodulin binding transcription activator CANT1 calcium activated nucleotidase CAPN10 calpain CAPN3 calpain 3, (p94) CAPN5 calpain CARD11 caspase recruitment domain family, member CARD14 caspase recruitment domain family, member CARD9 caspase recruitment domain family, member CASC5 cancer susceptibility candidate CASK calcium/calmodulin-dependent serine protein kinase (MAGUK X family) 409 CASP10 caspase 10, apoptosis-related cysteine peptidase CASP2 caspase 2, apoptosis-related cysteine peptidase CASP8 caspase 8, apoptosis-related cysteine peptidase CASQ2 calsequestrin 2 (cardiac muscle) CASR calcium-sensing receptor CAT catalase CATSPER1 cation channel, sperm associated CAV1 caveolin 1, caveolae protein, 22kDa CAV3 caveolin CBFB core-binding factor, beta subunit CBL Cbl proto-oncogene, E3 ubiquitin protein ligase CBS cystathionine-beta-synthase CBX2 chromobox homolog CC2D1A coiled-coil and C2 domain containing 1A CC2D2A coiled-coil and C2 domain containing 2A CCBE1 collagen and calcium binding EGF domains CCDC103 coiled-coil domain containing CCDC114 coiled-coil domain containing CCDC39 coiled-coil domain containing CCDC40 coiled-coil domain containing CCDC50 coiled-coil domain containing CCDC6 coiled-coil domain containing

9 431 CCDC65 coiled-coil domain containing CCDC78 coiled-coil domain containing CCDC8 coiled-coil domain containing CCDC88C coiled-coil domain containing 88C CCL11 chemokine (C-C motif) ligand CCM2 cerebral cavernous malformation CCNA2 cyclin A CCND1 cyclin D CCR6 chemokine (C-C motif) receptor CCT5 chaperonin containing TCP1, subunit 5 (epsilon) CD151 CD151 molecule (Raph blood group) CD19 CD19 molecule CD247 CD247 molecule CD27 CD27 molecule CD2AP CD2-associated protein CD320 CD320 molecule CD36 CD36 molecule (thrombospondin receptor) CD3D CD3d molecule, delta (CD3-TCR complex) CD3E CD3e molecule, epsilon (CD3-TCR complex) CD3G CD3g molecule, gamma (CD3-TCR complex) CD4 CD4 molecule CD40 CD40 molecule, TNF receptor superfamily member CD40LG CD40 ligand X CD59 CD59 molecule, complement regulatory protein CD79A CD79a molecule, immunoglobulin-associated alpha CD79B CD79b molecule, immunoglobulin-associated beta CD81 CD81 molecule CD82 CD82 molecule CD8A CD8a molecule CD96 CD96 molecule CDAN1 codanin CDC6 cell division cycle CDC73 cell division cycle CDH1 cadherin 1, type 1, E-cadherin (epithelial) CDH15 cadherin 15, type 1, M-cadherin (myotubule) CDH23 cadherin-related CDH3 cadherin 3, type 1, P-cadherin (placental) CDHR1 cadherin-related family member CDK11B cyclin-dependent kinase 11B CDK16 cyclin-dependent kinase 16 X CDK19 cyclin-dependent kinase CDK4 cyclin-dependent kinase CDK5RAP2 CDK5 regulatory subunit associated protein CDKL5 cyclin-dependent kinase-like 5 X CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2) CDKN2A cyclin-dependent kinase inhibitor 2A CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) CDON cell adhesion associated, oncogene regulated CDR1 cerebellar degeneration-related protein 1, 34kDa X CDSN corneodesmosin CDT1 chromatin licensing and DNA replication factor CEACAM16 carcinoembryonic antigen-related cell adhesion molecule CEACAM5 carcinoembryonic antigen-related cell adhesion molecule CEBPA CCAAT/enhancer binding protein (C/EBP), alpha

10 487 CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon CECR1 cat eye syndrome chromosome region, candidate CEL carboxyl ester lipase CENPJ centromere protein J CEP135 centrosomal protein 135kDa CEP152 centrosomal protein 152kDa CEP164 centrosomal protein 164kDa CEP290 centrosomal protein 290kDa CEP41 centrosomal protein 41kDa CEP57 centrosomal protein 57kDa CEP63 centrosomal protein 63kDa CERKL ceramide kinase-like CERS3 ceramide synthase CES1 carboxylesterase CETP cholesteryl ester transfer protein, plasma CFAP53 cilia and flagella associated protein CFC1 cripto, FRL-1, cryptic family CFD complement factor D (adipsin) CFH complement factor H CFHR5 complement factor H-related CFI complement factor I CFL2 cofilin 2 (muscle) CFP complement factor properdin X CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 511 CHAT choline O-acetyltransferase CHD2 chromodomain helicase DNA binding protein CHD7 chromodomain helicase DNA binding protein CHEK2 checkpoint kinase CHKB choline kinase beta CHM choroideremia (Rab escort protein 1) X CHMP1A charged multivesicular body protein 1A CHMP2B charged multivesicular body protein 2B CHMP4B charged multivesicular body protein 4B CHN1 chimerin CHRDL1 chordin-like 1 X CHRM3 cholinergic receptor, muscarinic CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle) CHRNA2 cholinergic receptor, nicotinic, alpha 2 (neuronal) CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle) CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) CHRND cholinergic receptor, nicotinic, delta (muscle) CHRNE cholinergic receptor, nicotinic, epsilon (muscle) CHRNG cholinergic receptor, nicotinic, gamma (muscle) CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase CHST3 carbohydrate (chondroitin 6) sulfotransferase CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase CHSY1 chondroitin sulfate synthase CHUK conserved helix-loop-helix ubiquitous kinase CIB2 calcium and integrin binding family member CIDEC cell death-inducing DFFA-like effector c CIITA class II, major histocompatibility complex, transactivator CIRH1A cirrhosis, autosomal recessive 1A (cirhin) CISD2 CDGSH iron sulfur domain

11 541 CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxyterminal domain, CLCF1 cardiotrophin-like cytokine factor CLCN1 chloride channel, voltage-sensitive CLCN2 chloride channel, voltage-sensitive CLCN4 chloride channel, voltage-sensitive 4 X CLCN5 chloride channel, voltage-sensitive 5 X CLCN7 chloride channel, voltage-sensitive CLCNKA chloride channel, voltage-sensitive Ka CLCNKB chloride channel, voltage-sensitive Kb CLDN1 claudin CLDN14 claudin CLDN16 claudin CLDN19 claudin CLEC7A C-type lectin domain family 7, member A CLIC2 chloride intracellular channel 2 X CLMP CXADR-like membrane protein CLN3 ceroid-lipofuscinosis, neuronal CLN5 ceroid-lipofuscinosis, neuronal CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 561 CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit CLRN1 clarin CNBP CCHC-type zinc finger, nucleic acid binding protein CNGA1 cyclic nucleotide gated channel alpha CNGA3 cyclic nucleotide gated channel alpha CNGB1 cyclic nucleotide gated channel beta CNGB3 cyclic nucleotide gated channel beta CNKSR1 connector enhancer of kinase suppressor of Ras CNKSR2 connector enhancer of kinase suppressor of Ras 2 X CNNM2 cyclin and CBS domain divalent metal cation transport mediator CNNM4 cyclin and CBS domain divalent metal cation transport mediator CNTN1 contactin CNTN2 contactin 2 (axonal) CNTNAP2 contactin associated protein-like COA5 cytochrome c oxidase assembly factor COASY CoA synthase COCH cochlin COG1 component of oligomeric golgi complex COG4 component of oligomeric golgi complex COG5 component of oligomeric golgi complex COG6 component of oligomeric golgi complex COG7 component of oligomeric golgi complex COG8 component of oligomeric golgi complex COL10A1 collagen, type X, alpha COL11A1 collagen, type XI, alpha COL11A2 collagen, type XI, alpha COL14A1 collagen, type XIV, alpha COL17A1 collagen, type XVII, alpha COL18A1 collagen, type XVIII, alpha COL1A1 collagen, type I, alpha COL1A2 collagen, type I, alpha COL2A1 collagen, type II, alpha

12 593 COL3A1 collagen, type III, alpha COL4A1 collagen, type IV, alpha COL4A2 collagen, type IV, alpha COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) COL4A3BP collagen, type IV, alpha 3 (Goodpasture antigen) binding protein COL4A4 collagen, type IV, alpha COL4A5 collagen, type IV, alpha 5 X COL4A6 collagen, type IV, alpha 6 X COL5A1 collagen, type V, alpha COL5A2 collagen, type V, alpha COL6A1 collagen, type VI, alpha COL6A2 collagen, type VI, alpha COL6A3 collagen, type VI, alpha COL7A1 collagen, type VII, alpha COL8A2 collagen, type VIII, alpha COL9A1 collagen, type IX, alpha COL9A2 collagen, type IX, alpha COL9A3 collagen, type IX, alpha COLEC11 collectin sub-family member COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 613 COMP cartilage oligomeric matrix protein COMT catechol-o-methyltransferase COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase COQ5 coenzyme Q5 homolog, methyltransferase (S. cerevisiae) COQ6 coenzyme Q6 monooxygenase COQ9 coenzyme Q CORIN corin, serine peptidase CORO1A coronin, actin binding protein, 1A COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor 622 COX14 COX14 cytochrome c oxidase assembly factor COX15 cytochrome c oxidase assembly homolog 15 (yeast) COX20 COX20 cytochrome c oxidase assembly factor COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung) COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) COX7B cytochrome c oxidase subunit VIIb X CP ceruloplasmin (ferroxidase) CPA6 carboxypeptidase A CPN1 carboxypeptidase N, polypeptide CPOX coproporphyrinogen oxidase CPS1 carbamoyl-phosphate synthase 1, mitochondrial CPT1A carnitine palmitoyltransferase 1A (liver) CPT2 carnitine palmitoyltransferase CR2 complement component (3d/Epstein Barr virus) receptor CRADD CASP2 and RIPK1 domain containing adaptor with death domain CRB1 crumbs family member 1, photoreceptor morphogenesis associated 638 CRBN cereblon CREB1 camp responsive element binding protein CREBBP CREB binding protein CRELD1 cysteine-rich with EGF-like domains CRH corticotropin releasing hormone CRLF1 cytokine receptor-like factor CRTAP cartilage associated protein CRX cone-rod homeobox

13 646 CRYAA crystallin, alpha A CRYAB crystallin, alpha B CRYBA1 crystallin, beta A CRYBA4 crystallin, beta A CRYBB1 crystallin, beta B CRYBB2 crystallin, beta B CRYBB3 crystallin, beta B CRYGB crystallin, gamma B CRYGC crystallin, gamma C CRYGD crystallin, gamma D CRYGS crystallin, gamma S CSF1R colony stimulating factor 1 receptor CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity Y (granulocyte-macrophage) 659 CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity X (granulocyte-macrophage) 660 CSF2RB colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 661 CSF3R colony stimulating factor 3 receptor (granulocyte) CSNK1D casein kinase 1, delta CSPP1 centrosome and spindle pole associated protein CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein) CST3 cystatin C CSTA cystatin A (stefin A) CSTB cystatin B (stefin B) CSTF2 cleavage stimulation factor, 3' pre-rna, subunit 2, 64kDa X CTC1 CTS telomere maintenance complex component CTCF CCCTC-binding factor (zinc finger protein) CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit CTGF connective tissue growth factor CTH cystathionine gamma-lyase CTHRC1 collagen triple helix repeat containing CTNNA3 catenin (cadherin-associated protein), alpha CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa CTNND2 catenin (cadherin-associated protein), delta CTNS cystinosin, lysosomal cystine transporter CTSA cathepsin A CTSC cathepsin C CTSD cathepsin D CTSF cathepsin F CTSH cathepsin H CTSK cathepsin K CUBN cubilin (intrinsic factor-cobalamin receptor) CUL3 cullin CUL4B cullin 4B X CUL7 cullin CUX2 cut-like homeobox CXCR4 chemokine (C-X-C motif) receptor CYB5A cytochrome b5 type A (microsomal) CYB5R3 cytochrome b5 reductase CYBA cytochrome b-245, alpha polypeptide CYBB cytochrome b-245, beta polypeptide X CYC1 cytochrome c CYCS cytochrome c, somatic CYLD cylindromatosis (turban tumor syndrome)

14 698 CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide D2HGDH D-2-hydroxyglutarate dehydrogenase DACT1 dishevelled-binding antagonist of beta-catenin DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1) DARS aspartyl-trna synthetase DARS2 aspartyl-trna synthetase 2, mitochondrial DAZ1 deleted in azoospermia 1 Y DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) DBI diazepam binding inhibitor (GABA receptor modulator, acyl-coa binding protein) 730 DBT dihydrolipoamide branched chain transacylase E DCAF17 DDB1 and CUL4 associated factor DCC DCC netrin 1 receptor DCHS1 dachsous cadherin-related DCHS2 dachsous cadherin-related DCK deoxycytidine kinase DCLRE1C DNA cross-link repair 1C DCN decorin DCTN1 dynactin DCX doublecortin X DCXR dicarbonyl/l-xylulose reductase DDB1 damage-specific DNA binding protein 1, 127kDa DDB2 damage-specific DNA binding protein 2, 48kDa DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) DDHD1 DDHD domain containing DDHD2 DDHD domain containing DDIT3 DNA-damage-inducible transcript DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic) 748 DDR2 discoidin domain receptor tyrosine kinase DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide DEAF1 DEAF1 transcription factor

15 752 DEC1 deleted in esophageal cancer DECR1 2,4-dienoyl CoA reductase 1, mitochondrial DEPDC5 DEP domain containing DES desmin DFNA5 deafness, autosomal dominant DFNB31 deafness, autosomal recessive DFNB59 deafness, autosomal recessive DGKE diacylglycerol kinase, epsilon 64kDa DGUOK deoxyguanosine kinase DHCR24 24-dehydrocholesterol reductase DHCR7 7-dehydrocholesterol reductase DHDDS dehydrodolichyl diphosphate synthase DHFR dihydrofolate reductase DHH desert hedgehog DHODH dihydroorotate dehydrogenase (quinone) DHTKD1 dehydrogenase E1 and transketolase domain containing DIABLO diablo, IAP-binding mitochondrial protein DIAPH1 diaphanous-related formin DIAPH2 diaphanous-related formin 2 X DIAPH3 diaphanous-related formin DICER1 dicer 1, ribonuclease type III DIO1 deiodinase, iodothyronine, type I DIP2B DIP2 disco-interacting protein 2 homolog B (Drosophila) DIRC2 disrupted in renal carcinoma DIS3L2 DIS3 like 3'-5' exoribonuclease DISC2 disrupted in schizophrenia 2 (non-protein coding) DISP1 dispatched homolog 1 (Drosophila) DKC1 dyskeratosis congenita 1, dyskerin X DKK1 dickkopf WNT signaling pathway inhibitor DLAT dihydrolipoamide S-acetyltransferase DLD dihydrolipoamide dehydrogenase DLEC1 deleted in lung and esophageal cancer DLG1 discs, large homolog 1 (Drosophila) DLG3 discs, large homolog 3 (Drosophila) X DLG5 discs, large homolog 5 (Drosophila) DLL3 delta-like 3 (Drosophila) DLX3 distal-less homeobox DLX5 distal-less homeobox DMD dystrophin X DMGDH dimethylglycine dehydrogenase DMP1 dentin matrix acidic phosphoprotein DMPK dystrophia myotonica-protein kinase DMRT1 doublesex and mab-3 related transcription factor DMRT2 doublesex and mab-3 related transcription factor DNA2 DNA replication helicase/nuclease DNAAF1 dynein, axonemal, assembly factor DNAAF2 dynein, axonemal, assembly factor DNAAF3 dynein, axonemal, assembly factor DNAAF5 dynein, axonemal, assembly factor DNAH11 dynein, axonemal, heavy chain DNAH5 dynein, axonemal, heavy chain DNAI1 dynein, axonemal, intermediate chain DNAI2 dynein, axonemal, intermediate chain DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member

16 808 DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member DNAL1 dynein, axonemal, light chain DNASE1L3 deoxyribonuclease I-like DNM1L dynamin 1-like DNM2 dynamin DNMT1 DNA (cytosine-5-)-methyltransferase DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta DOCK6 dedicator of cytokinesis DOCK8 dedicator of cytokinesis DOK7 docking protein DOLK dolichol kinase DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N- acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) DPEP1 dipeptidase 1 (renal) DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit 823 DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit 824 DPM3 dolichyl-phosphate mannosyltransferase polypeptide DPP6 dipeptidyl-peptidase DPP6 dipeptidyl-peptidase DPY19L2 dpy-19-like 2 (C. elegans) DPYD dihydropyrimidine dehydrogenase DPYS dihydropyrimidinase DRC1 dynein regulatory complex subunit DRD2 dopamine receptor D DSC2 desmocollin DSC3 desmocollin DSE dermatan sulfate epimerase DSG1 desmoglein DSG2 desmoglein DSG4 desmoglein DSP desmoplakin DSPP dentin sialophosphoprotein DST dystonin DTNA dystrobrevin, alpha DTNBP1 dystrobrevin binding protein DUOX2 dual oxidase DUOXA2 dual oxidase maturation factor DUSP6 dual specificity phosphatase DYM dymeclin DYNC1H1 dynein, cytoplasmic 1, heavy chain DYNC2H1 dynein, cytoplasmic 2, heavy chain DYRK1A dual-specificity tyrosine-(y)-phosphorylation regulated kinase 1A DYSF dysferlin DYX1C1 dyslexia susceptibility 1 candidate EARS2 glutamyl-trna synthetase 2, mitochondrial EBP emopamil binding protein (sterol isomerase) X ECE1 endothelin converting enzyme ECEL1 endothelin converting enzyme-like ECM1 extracellular matrix protein EDA ectodysplasin A X EDAR ectodysplasin A receptor EDARADD EDAR-associated death domain

17 860 EDN1 endothelin EDN3 endothelin EDNRA endothelin receptor type A EDNRB endothelin receptor type B EEF1A2 eukaryotic translation elongation factor 1 alpha EEF1B2 eukaryotic translation elongation factor 1 beta EEF2 eukaryotic translation elongation factor EFEMP1 EGF containing fibulin-like extracellular matrix protein EFEMP2 EGF containing fibulin-like extracellular matrix protein EFHC1 EF-hand domain (C-terminal) containing EFNB1 ephrin-b1 X EFTUD2 elongation factor Tu GTP binding domain containing EGF epidermal growth factor EGFR epidermal growth factor receptor EGLN1 egl-9 family hypoxia-inducible factor EGR2 early growth response EHHADH enoyl-coa, hydratase/3-hydroxyacyl CoA dehydrogenase EHMT1 euchromatic histone-lysine N-methyltransferase EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, kDa 883 EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa EIF2S3 eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa X EIF4A3 eukaryotic translation initiation factor 4A EIF4G1 eukaryotic translation initiation factor 4 gamma, ELAC2 elac ribonuclease Z ELANE elastase, neutrophil expressed ELK1 ELK1, member of ETS oncogene family X ELMOD3 ELMO/CED-12 domain containing ELN elastin ELOVL4 ELOVL fatty acid elongase ELP2 elongator acetyltransferase complex subunit ELP4 elongator acetyltransferase complex subunit EMD emerin X EMG1 EMG1 N1-specific pseudouridine methyltransferase EMX2 empty spiracles homeobox ENAM enamelin ENG endoglin ENO3 enolase 3 (beta, muscle) ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase ENTPD1 ectonucleoside triphosphate diphosphohydrolase EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase 905 EP300 E1A binding protein p EPAS1 endothelial PAS domain protein EPB41 erythrocyte membrane protein band EPB41L1 erythrocyte membrane protein band 4.1-like EPB42 erythrocyte membrane protein band

18 910 EPCAM epithelial cell adhesion molecule EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans) EPHA2 EPH receptor A EPHB2 EPH receptor B EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) EPHX2 epoxide hydrolase 2, cytoplasmic EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) EPS8L3 EPS8-like EPX eosinophil peroxidase ERBB2 erb-b2 receptor tyrosine kinase ERBB3 erb-b2 receptor tyrosine kinase ERBB4 erb-b2 receptor tyrosine kinase ERCC1 excision repair cross-complementation group ERCC2 excision repair cross-complementation group ERCC3 excision repair cross-complementation group ERCC4 excision repair cross-complementation group ERCC5 excision repair cross-complementation group ERCC6 excision repair cross-complementation group ERCC6L2 excision repair cross-complementation group 6-like ERCC8 excision repair cross-complementation group ERF Ets2 repressor factor ERLIN2 ER lipid raft associated ERMAP erythroblast membrane-associated protein (Scianna blood group) ERMARD ER membrane-associated RNA degradation ESCO2 establishment of sister chromatid cohesion N-acetyltransferase ESPN espin ESR1 estrogen receptor ESRRB estrogen-related receptor beta ETFA electron-transfer-flavoprotein, alpha polypeptide ETFB electron-transfer-flavoprotein, beta polypeptide ETFDH electron-transferring-flavoprotein dehydrogenase ETHE1 ethylmalonic encephalopathy ETV1 ets variant ETV6 ets variant EVC Ellis van Creveld syndrome EVC2 Ellis van Creveld syndrome EWSR1 EWS RNA-binding protein EXOSC3 exosome component EXPH5 exophilin EXT1 exostosin glycosyltransferase EXT2 exostosin glycosyltransferase EYA1 EYA transcriptional coactivator and phosphatase EYA4 EYA transcriptional coactivator and phosphatase EYS eyes shut homolog (Drosophila) EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit F10 coagulation factor X F11 coagulation factor XI F12 coagulation factor XII (Hageman factor) F13A1 coagulation factor XIII, A1 polypeptide F13B coagulation factor XIII, B polypeptide F2 coagulation factor II (thrombin) F5 coagulation factor V (proaccelerin, labile factor) F7 coagulation factor VII (serum prothrombin conversion accelerator)

19 963 F8 coagulation factor VIII, procoagulant component X F9 coagulation factor IX X FA2H fatty acid 2-hydroxylase FADD Fas (TNFRSF6)-associated via death domain FAH fumarylacetoacetate hydrolase (fumarylacetoacetase) FAM111A family with sequence similarity 111, member A FAM126A family with sequence similarity 126, member A FAM134B family with sequence similarity 134, member B FAM161A family with sequence similarity 161, member A FAM20A family with sequence similarity 20, member A FAM20C family with sequence similarity 20, member C FAM58A family with sequence similarity 58, member A X FAM83H family with sequence similarity 83, member H FAN1 FANCD2/FANCI-associated nuclease FANCA Fanconi anemia, complementation group A FANCB Fanconi anemia, complementation group B X FANCC Fanconi anemia, complementation group C FANCD2 Fanconi anemia, complementation group D FANCE Fanconi anemia, complementation group E FANCF Fanconi anemia, complementation group F FANCG Fanconi anemia, complementation group G FANCI Fanconi anemia, complementation group I FANCL Fanconi anemia, complementation group L FANCM Fanconi anemia, complementation group M FARS2 phenylalanyl-trna synthetase 2, mitochondrial FAS Fas cell surface death receptor FASLG Fas ligand (TNF superfamily, member 6) FASN fatty acid synthase FASTKD2 FAST kinase domains FAT4 FAT atypical cadherin FBLN1 fibulin FBLN5 fibulin FBN1 fibrillin FBN2 fibrillin FBP1 fructose-1,6-bisphosphatase FBXL4 F-box and leucine-rich repeat protein FBXO38 F-box protein FBXO7 F-box protein FBXW4 F-box and WD repeat domain containing FCGR2C Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) 1003 FCN3 ficolin (collagen/fibrinogen domain containing) FECH ferrochelatase FERMT1 fermitin family member FERMT3 fermitin family member FGA fibrinogen alpha chain FGB fibrinogen beta chain FGD1 FYVE, RhoGEF and PH domain containing 1 X FGD4 FYVE, RhoGEF and PH domain containing FGF10 fibroblast growth factor FGF14 fibroblast growth factor FGF16 fibroblast growth factor 16 X FGF17 fibroblast growth factor FGF20 fibroblast growth factor FGF23 fibroblast growth factor FGF3 fibroblast growth factor

20 1018 FGF8 fibroblast growth factor 8 (androgen-induced) FGF9 fibroblast growth factor FGFR1 fibroblast growth factor receptor FGFR2 fibroblast growth factor receptor FGFR3 fibroblast growth factor receptor FH fumarate hydratase FHL1 four and a half LIM domains 1 X FHL2 four and a half LIM domains FIG4 FIG4 phosphoinositide 5-phosphatase FIGLA folliculogenesis specific basic helix-loop-helix FKBP10 FK506 binding protein 10, 65 kda FKBP14 FK506 binding protein 14, 22 kda FKRP fukutin related protein FKTN fukutin FLCN folliculin FLG filaggrin FLNA filamin A, alpha X FLNB filamin B, beta FLNC filamin C, gamma FLRT3 fibronectin leucine rich transmembrane protein FLT3 fms-related tyrosine kinase FLT4 fms-related tyrosine kinase FLVCR1 feline leukemia virus subgroup C cellular receptor FLVCR2 feline leukemia virus subgroup C cellular receptor family, member FMO3 flavin containing monooxygenase FMR1 fragile X mental retardation 1 X FN1 fibronectin FOLR1 folate receptor 1 (adult) FOS FBJ murine osteosarcoma viral oncogene homolog FOXC1 forkhead box C FOXC2 forkhead box C FOXE1 forkhead box E FOXE3 forkhead box E FOXF1 forkhead box F FOXG1 forkhead box G FOXI1 forkhead box I FOXL2 forkhead box L FOXN1 forkhead box N FOXO1 forkhead box O FOXO4 forkhead box O4 X FOXP1 forkhead box P FOXP2 forkhead box P FOXP3 forkhead box P3 X FOXRED1 FAD-dependent oxidoreductase domain containing FRAS1 Fraser extracellular matrix complex subunit FREM1 FRAS1 related extracellular matrix FREM2 FRAS1 related extracellular matrix protein FRG1 FSHD region gene FRMD7 FERM domain containing 7 X FRMPD4 FERM and PDZ domain containing 4 X FRY furry homolog (Drosophila) FSCN2 fascin actin-bundling protein 2, retinal FSHB follicle stimulating hormone, beta polypeptide FSHR follicle stimulating hormone receptor FTCD formimidoyltransferase cyclodeaminase

21 1073 FTH1 ferritin, heavy polypeptide FTL ferritin, light polypeptide FTO fat mass and obesity associated FTSJ1 FtsJ RNA methyltransferase homolog 1 (E. coli) X FUCA1 fucosidase, alpha-l- 1, tissue FUCA2 fucosidase, alpha-l- 2, plasma FUS FUS RNA binding protein FUT6 fucosyltransferase 6 (alpha (1,3) fucosyltransferase) FUZ fuzzy planar cell polarity protein FXN frataxin FXYD2 FXYD domain containing ion transport regulator FYCO1 FYVE and coiled-coil domain containing FZD4 frizzled class receptor FZD6 frizzled class receptor G6PC glucose-6-phosphatase, catalytic subunit G6PC3 glucose 6 phosphatase, catalytic, G6PD glucose-6-phosphate dehydrogenase X GAA glucosidase, alpha; acid GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3 X GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta GABRD gamma-aminobutyric acid (GABA) A receptor, delta GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma GAD1 glutamate decarboxylase 1 (brain, 67kDa) GALC galactosylceramidase GALE UDP-galactose-4-epimerase GALK1 galactokinase GALNS galactosamine (N-acetyl)-6-sulfatase GALNT3 polypeptide N-acetylgalactosaminyltransferase GALNTL5 polypeptide N-acetylgalactosaminyltransferase-like GALT galactose-1-phosphate uridylyltransferase GAMT guanidinoacetate N-methyltransferase GAN gigaxonin GARS glycyl-trna synthetase GATA1 GATA binding protein 1 (globin transcription factor 1) X GATA2 GATA binding protein GATA3 GATA binding protein GATA4 GATA binding protein GATA6 GATA binding protein GATAD1 GATA zinc finger domain containing GATAD2B GATA zinc finger domain containing 2B GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) GBA glucosidase, beta, acid GBA2 glucosidase, beta (bile acid) GBE1 glucan (1,4-alpha-), branching enzyme GCDH glutaryl-coa dehydrogenase GCH1 GTP cyclohydrolase GCK glucokinase (hexokinase 4) GCLC glutamate-cysteine ligase, catalytic subunit GCM2 glial cells missing homolog 2 (Drosophila) GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 1124 GCSH glycine cleavage system protein H (aminomethyl carrier) GDAP1 ganglioside induced differentiation associated protein GDF1 growth differentiation factor

22 1127 GDF2 growth differentiation factor GDF3 growth differentiation factor GDF5 growth differentiation factor GDF6 growth differentiation factor GDI1 GDP dissociation inhibitor 1 X GDNF glial cell derived neurotrophic factor GFAP glial fibrillary acidic protein GFER growth factor, augmenter of liver regeneration GFI1 growth factor independent 1 transcription repressor GFI1B growth factor independent 1B transcription repressor GFM1 G elongation factor, mitochondrial GFPT1 glutamine--fructose-6-phosphate transaminase GGCX gamma-glutamyl carboxylase GH1 growth hormone GHR growth hormone receptor GHRH growth hormone releasing hormone GHRHR growth hormone releasing hormone receptor GHSR growth hormone secretagogue receptor GIF gastric intrinsic factor (vitamin B synthesis) GIGYF2 GRB10 interacting GYF protein GIP gastric inhibitory polypeptide GIPC3 GIPC PDZ domain containing family, member GJA1 gap junction protein, alpha 1, 43kDa GJA3 gap junction protein, alpha 3, 46kDa GJA5 gap junction protein, alpha 5, 40kDa GJA8 gap junction protein, alpha 8, 50kDa GJB1 gap junction protein, beta 1, 32kDa X GJB2 gap junction protein, beta 2, 26kDa GJB3 gap junction protein, beta 3, 31kDa GJB4 gap junction protein, beta 4, 30.3kDa GJB6 gap junction protein, beta 6, 30kDa GJC2 gap junction protein, gamma 2, 47kDa GK glycerol kinase X GLA galactosidase, alpha X GLB1 galactosidase, beta GLDC glycine dehydrogenase (decarboxylating) GLE1 GLE1 RNA export mediator GLI2 GLI family zinc finger GLI3 GLI family zinc finger GLIS2 GLIS family zinc finger GLIS3 GLIS family zinc finger GLMN glomulin, FKBP associated protein GLRA1 glycine receptor, alpha GLRB glycine receptor, beta GLRX5 glutaredoxin GLUD1 glutamate dehydrogenase GLUL glutamate-ammonia ligase GLYCTK glycerate kinase GM2A GM2 ganglioside activator GMPPA GDP-mannose pyrophosphorylase A GMPPB GDP-mannose pyrophosphorylase B GMPS guanine monphosphate synthase GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class) GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide

23 1181 GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 1183 GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O 1184 GNAQ guanine nucleotide binding protein (G protein), q polypeptide GNAS GNAS complex locus GNAS-AS1 GNAS antisense RNA GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide GNB4 guanine nucleotide binding protein (G protein), beta polypeptide GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 1191 GNMT glycine N-methyltransferase GNPAT glyceronephosphate O-acyltransferase GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 1194 GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) 1196 GNRHR gonadotropin-releasing hormone receptor GNS glucosamine (N-acetyl)-6-sulfatase GOLGA5 golgin A GON4L gon-4-like (C. elegans) GOPC golgi-associated PDZ and coiled-coil motif containing GORAB golgin, RAB6-interacting GOSR2 golgi SNAP receptor complex member GOT1 glutamic-oxaloacetic transaminase 1, soluble GP1BA glycoprotein Ib (platelet), alpha polypeptide GP1BB glycoprotein Ib (platelet), beta polypeptide GP6 glycoprotein VI (platelet) GP9 glycoprotein IX (platelet) GPC3 glypican 3 X GPC6 glypican GPD1 glycerol-3-phosphate dehydrogenase 1 (soluble) GPD1L glycerol-3-phosphate dehydrogenase 1-like GPHN gephyrin GPI glucose-6-phosphate isomerase GPR143 G protein-coupled receptor 143 X GPR179 G protein-coupled receptor GPR56 G protein-coupled receptor GPR98 G protein-coupled receptor GPSM2 G-protein signaling modulator GPX1 glutathione peroxidase GRHL2 grainyhead-like 2 (Drosophila) GRHL3 grainyhead-like 3 (Drosophila) GRHPR glyoxylate reductase/hydroxypyruvate reductase GRIA1 glutamate receptor, ionotropic, AMPA GRIA3 glutamate receptor, ionotropic, AMPA 3 X GRID1 glutamate receptor, ionotropic, delta GRIK2 glutamate receptor, ionotropic, kainate GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate

24 1228 GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B GRIP1 glutamate receptor interacting protein GRK1 G protein-coupled receptor kinase GRK1 G protein-coupled receptor kinase GRM1 glutamate receptor, metabotropic GRM6 glutamate receptor, metabotropic GRN granulin GRPR gastrin-releasing peptide receptor X GRXCR1 glutaredoxin, cysteine rich GSC goosecoid homeobox GSN gelsolin GSR glutathione reductase GSS glutathione synthetase GTF2H5 general transcription factor IIH, polypeptide GUCA1A guanylate cyclase activator 1A (retina) GUCA1B guanylate cyclase activator 1B (retina) GUCY2C guanylate cyclase 2C GUCY2D guanylate cyclase 2D, membrane (retina-specific) GUSB glucuronidase, beta GYG1 glycogenin GYS1 glycogen synthase 1 (muscle) GYS2 glycogen synthase 2 (liver) H19 H19, imprinted maternally expressed transcript (non-protein coding) 1252 H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) HACD1 3-hydroxyacyl-CoA dehydratase HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase HADH hydroxyacyl-coa dehydrogenase HADHA hydroxyacyl-coa dehydrogenase/3-ketoacyl-coa thiolase/enoyl CoA hydratase (trifunctional protein), alpha subunit 1257 HADHB hydroxyacyl-coa dehydrogenase/3-ketoacyl-coa thiolase/enoyl CoA hydratase (trifunctional protein), beta subunit 1258 HAGH hydroxyacylglutathione hydrolase HAMP hepcidin antimicrobial peptide HARS histidyl-trna synthetase HARS2 histidyl-trna synthetase 2, mitochondrial HAX1 HCLS1 associated protein X HBA1 hemoglobin, alpha HBA2 hemoglobin, alpha HBB hemoglobin, beta HBD hemoglobin, delta HBE1 hemoglobin, epsilon HBEGF heparin-binding EGF-like growth factor HBG1 hemoglobin, gamma A HBG2 hemoglobin, gamma G HBQ1 hemoglobin, theta HBZ hemoglobin, zeta HCCS holocytochrome c synthase X HCFC1 host cell factor C1 X HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel HCRT hypocretin (orexin) neuropeptide precursor HDAC4 histone deacetylase HDAC6 histone deacetylase 6 X

25 1279 HDAC8 histone deacetylase 8 X HEPACAM hepatic and glial cell adhesion molecule HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase HES7 hes family bhlh transcription factor HESX1 HESX homeobox HEXA hexosaminidase A (alpha polypeptide) HEXB hexosaminidase B (beta polypeptide) HFE hemochromatosis HFE2 hemochromatosis type 2 (juvenile) HGD homogentisate 1,2-dioxygenase HGF hepatocyte growth factor (hepapoietin A; scatter factor) HGSNAT heparan-alpha-glucosaminide N-acetyltransferase HIBCH 3-hydroxyisobutyryl-CoA hydrolase HINT1 histidine triad nucleotide binding protein HIP1 huntingtin interacting protein HIRA histone cell cycle regulator HIST1H4B histone cluster 1, H4b HIST3H3 histone cluster 3, H HIVEP2 human immunodeficiency virus type I enhancer binding protein HK1 hexokinase HLA-A major histocompatibility complex, class I, A HLA-DQB1 major histocompatibility complex, class II, DQ beta HLA-DRA major histocompatibility complex, class II, DR alpha HLA-DRB1 major histocompatibility complex, class II, DR beta HLCS holocarboxylase synthetase (biotin-(proprionyl-coa-carboxylase (ATP-hydrolysing)) ligase) 1304 HMBS hydroxymethylbilane synthase HMGA1 high mobility group AT-hook HMGA2 high mobility group AT-hook HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) HMOX1 heme oxygenase (decycling) HMX1 H6 family homeobox HNF1A HNF1 homeobox A HNF1B HNF1 homeobox B HNF4A hepatocyte nuclear factor 4, alpha HOGA1 4-hydroxy-2-oxoglutarate aldolase HOXA1 homeobox A HOXA11 homeobox A HOXA13 homeobox A HOXA2 homeobox A HOXB1 homeobox B HOXC13 homeobox C HOXD10 homeobox D HOXD13 homeobox D HPD 4-hydroxyphenylpyruvate dioxygenase HPGD hydroxyprostaglandin dehydrogenase 15-(NAD) HPRT1 hypoxanthine phosphoribosyltransferase 1 X HPS1 Hermansky-Pudlak syndrome HPS3 Hermansky-Pudlak syndrome HPS4 Hermansky-Pudlak syndrome HPS5 Hermansky-Pudlak syndrome HPS6 Hermansky-Pudlak syndrome HPSE2 heparanase 2 (inactive) HR hair growth associated HRAS Harvey rat sarcoma viral oncogene homolog

26 1334 HRG histidine-rich glycoprotein HS6ST1 heparan sulfate 6-O-sulfotransferase HSD11B1 hydroxysteroid (11-beta) dehydrogenase HSD11B2 hydroxysteroid (11-beta) dehydrogenase HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10 X HSD17B3 hydroxysteroid (17-beta) dehydrogenase HSD17B4 hydroxysteroid (17-beta) dehydrogenase HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid deltaisomerase HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid deltaisomerase HSF4 heat shock transcription factor HSPB1 heat shock 27kDa protein HSPB3 heat shock 27kDa protein HSPB8 heat shock 22kDa protein HSPD1 heat shock 60kDa protein 1 (chaperonin) HSPG2 heparan sulfate proteoglycan HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled HTRA1 HtrA serine peptidase HTRA2 HtrA serine peptidase HTT huntingtin HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein X ligase 1354 HYAL1 hyaluronoglucosaminidase HYDIN HYDIN, axonemal central pair apparatus protein HYLS1 hydrolethalus syndrome IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) ICAM1 intercellular adhesion molecule ICK intestinal cell (MAK-like) kinase ICOS inducible T-cell co-stimulator IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial IDH3B isocitrate dehydrogenase 3 (NAD+) beta IDS iduronate 2-sulfatase X IDUA iduronidase, alpha-l IER3IP1 immediate early response 3 interacting protein IFITM5 interferon induced transmembrane protein IFNAR2 interferon (alpha, beta and omega) receptor IFNG interferon, gamma IFNGR1 interferon gamma receptor IFNGR2 interferon gamma receptor 2 (interferon gamma transducer 1) IFT122 intraflagellar transport IFT140 intraflagellar transport IFT172 intraflagellar transport IFT43 intraflagellar transport IFT80 intraflagellar transport IFT88 intraflagellar transport IGBP1 immunoglobulin (CD79A) binding protein 1 X IGF1 insulin-like growth factor 1 (somatomedin C) IGF1R insulin-like growth factor 1 receptor IGF2R insulin-like growth factor 2 receptor IGFBP7 insulin-like growth factor binding protein IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) IGHM immunoglobulin heavy constant mu IGHMBP2 immunoglobulin mu binding protein IGKC immunoglobulin kappa constant IGLL1 immunoglobulin lambda-like polypeptide

27 1387 IGSF1 immunoglobulin superfamily, member 1 X IHH indian hedgehog IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 1390 IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 1391 IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, X kinase gamma 1392 IL10RA interleukin 10 receptor, alpha IL10RB interleukin 10 receptor, beta IL11RA interleukin 11 receptor, alpha IL12B interleukin 12B IL12RB1 interleukin 12 receptor, beta IL17F interleukin 17F IL17RA interleukin 17 receptor A IL17RD interleukin 17 receptor D IL1RAPL1 interleukin 1 receptor accessory protein-like 1 X IL1RN interleukin 1 receptor antagonist IL21R interleukin 21 receptor IL2RA interleukin 2 receptor, alpha IL2RB interleukin 2 receptor, beta IL2RG interleukin 2 receptor, gamma X IL31RA interleukin 31 receptor A IL36RN interleukin 36 receptor antagonist IL3RA interleukin 3 receptor, alpha (low affinity) Y IL3RA interleukin 3 receptor, alpha (low affinity) X IL4R interleukin 4 receptor IL7R interleukin 7 receptor ILDR1 immunoglobulin-like domain containing receptor IMPAD1 inositol monophosphatase domain containing IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase IMPG2 interphotoreceptor matrix proteoglycan INF2 inverted formin, FH2 and WH2 domain containing ING1 inhibitor of growth family, member INPP4A inositol polyphosphate-4-phosphatase, type I, 107kDa INPP5E inositol polyphosphate-5-phosphatase, 72 kda INPPL1 inositol polyphosphate phosphatase-like INS insulin INSL3 insulin-like 3 (Leydig cell) INSR insulin receptor INVS inversin IQCB1 IQ motif containing B IQSEC2 IQ motif and Sec7 domain 2 X IRAK4 interleukin-1 receptor-associated kinase IRF1 interferon regulatory factor IRF4 interferon regulatory factor IRF5 interferon regulatory factor IRF6 interferon regulatory factor IRF8 interferon regulatory factor IRGM immunity-related GTPase family, M IRX5 iroquois homeobox ISCU iron-sulfur cluster assembly enzyme ISPD isoprenoid synthase domain containing ITCH itchy E3 ubiquitin protein ligase ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)

28 1439 ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 1440 ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA receptor) 1441 ITGA6 integrin, alpha ITGA7 integrin, alpha ITGA8 integrin, alpha ITGAM integrin, alpha M (complement component 3 receptor 3 subunit) ITGB2 integrin, beta 2 (complement component 3 receptor 3 and subunit) 1446 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) ITGB4 integrin, beta ITK IL2-inducible T-cell kinase ITM2B integral membrane protein 2B ITPR1 inositol 1,4,5-trisphosphate receptor, type IVD isovaleryl-coa dehydrogenase IYD iodotyrosine deiodinase JAG1 jagged JAK2 Janus kinase JAK3 Janus kinase JAM3 junctional adhesion molecule JPH2 junctophilin JPH3 junctophilin JUP junction plakoglobin KAL1 Kallmann syndrome 1 sequence X KANK1 KN motif and ankyrin repeat domains KANSL1 KAT8 regulatory NSL complex subunit KARS lysyl-trna synthetase KAT6B K(lysine) acetyltransferase 6B KBTBD13 kelch repeat and BTB (POZ) domain containing KCNA1 potassium channel, voltage gated shaker related subfamily A, member KCNA5 potassium channel, voltage gated shaker related subfamily A, member KCNC3 potassium channel, voltage gated Shaw related subfamily C, member KCND3 potassium channel, voltage gated Shal related subfamily D, member KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit KCNE5 potassium channel, voltage gated subfamily E regulatory beta X subunit KCNH2 potassium channel, voltage gated eag related subfamily H, member KCNJ1 potassium channel, inwardly rectifying subfamily J, member KCNJ10 potassium channel, inwardly rectifying subfamily J, member KCNJ11 potassium channel, inwardly rectifying subfamily J, member KCNJ13 potassium channel, inwardly rectifying subfamily J, member KCNJ2 potassium channel, inwardly rectifying subfamily J, member KCNJ5 potassium channel, inwardly rectifying subfamily J, member KCNJ8 potassium channel, inwardly rectifying subfamily J, member KCNK9 potassium channel, two pore domain subfamily K, member

29 1483 KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding) 1486 KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member KCNQ4 potassium channel, voltage gated KQT-like subfamily Q, member KCNT1 potassium channel, sodium activated subfamily T, member KCNV2 potassium channel, voltage gated modifier subfamily V, member KCTD1 potassium channel tetramerization domain containing KCTD7 potassium channel tetramerization domain containing KDM5A lysine (K)-specific demethylase 5A KDM5C lysine (K)-specific demethylase 5C X KDM5D lysine (K)-specific demethylase 5D Y KDM6A lysine (K)-specific demethylase 6A X KDM6B lysine (K)-specific demethylase 6B KDM7A lysine (K)-specific demethylase 7A KDR kinase insert domain receptor KERA keratocan KHDC3L KH domain containing 3-like, subcortical maternal complex member 1502 KIAA0196 KIAA KIAA0319L KIAA0319-like KIAA1279 KIAA KIAA2022 KIAA2022 X KIF11 kinesin family member KIF1A kinesin family member 1A KIF1B kinesin family member 1B KIF1C kinesin family member 1C KIF21A kinesin family member 21A KIF22 kinesin family member KIF2A kinesin heavy chain member 2A KIF4A kinesin family member 4A X KIF5A kinesin family member 5A KIF5C kinesin family member 5C KIF5C kinesin family member 5C KIF7 kinesin family member KIRREL3 kin of IRRE like 3 (Drosophila) KISS1 KiSS-1 metastasis-suppressor KISS1R KISS1 receptor KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog KITLG KIT ligand KL klotho KLF1 Kruppel-like factor 1 (erythroid) KLF11 Kruppel-like factor KLF6 Kruppel-like factor KLHDC8B kelch domain containing 8B KLHL10 kelch-like family member KLHL15 kelch-like family member 15 X

30 1530 KLHL3 kelch-like family member KLHL41 kelch-like family member KLHL7 kelch-like family member KLK4 kallikrein-related peptidase KLKB1 kallikrein B, plasma (Fletcher factor) KLLN killin, p53-regulated DNA replication inhibitor KMT2A lysine (K)-specific methyltransferase 2A KMT2B lysine (K)-specific methyltransferase 2B KMT2D lysine (K)-specific methyltransferase 2D KPTN kaptin (actin binding protein) KRAS Kirsten rat sarcoma viral oncogene homolog KRIT1 KRIT1, ankyrin repeat containing KRT1 keratin 1, type II KRT10 keratin 10, type I KRT12 keratin 12, type I KRT13 keratin 13, type I KRT14 keratin 14, type I KRT16 keratin 16, type I KRT17 keratin 17, type I KRT18 keratin 18, type I KRT2 keratin 2, type II KRT3 keratin 3, type II KRT4 keratin 4, type II KRT5 keratin 5, type II KRT6A keratin 6A, type II KRT6B keratin 6B, type II KRT71 keratin 71, type II KRT74 keratin 74, type II KRT8 keratin 8, type II KRT81 keratin 81, type II KRT83 keratin 83, type II KRT85 keratin 85, type II KRT86 keratin 86, type II KRT9 keratin 9, type I L1CAM L1 cell adhesion molecule X L2HGDH L-2-hydroxyglutarate dehydrogenase LAMA1 laminin, alpha LAMA2 laminin, alpha LAMA3 laminin, alpha LAMA4 laminin, alpha LAMB1 laminin, beta LAMB2 laminin, beta 2 (laminin S) LAMB3 laminin, beta LAMC2 laminin, gamma LAMC3 laminin, gamma LAMP2 lysosomal-associated membrane protein 2 X LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator LARGE like-glycosyltransferase LARP7 La ribonucleoprotein domain family, member LARS2 leucyl-trna synthetase 2, mitochondrial LAS1L LAS1-like (S. cerevisiae) X LBR lamin B receptor LCA5 Leber congenital amaurosis LCAT lecithin-cholesterol acyltransferase LCT lactase

31 1585 LDB3 LIM domain binding LDHA lactate dehydrogenase A LDHB lactate dehydrogenase B LDLR low density lipoprotein receptor LDLRAP1 low density lipoprotein receptor adaptor protein LEMD3 LEM domain containing LEP leptin LEPR leptin receptor LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase LGI1 leucine-rich, glioma inactivated LHB luteinizing hormone beta polypeptide LHCGR luteinizing hormone/choriogonadotropin receptor LHFPL5 lipoma HMGIC fusion partner-like LHX3 LIM homeobox LHX4 LIM homeobox LIAS lipoic acid synthetase LIFR leukemia inhibitory factor receptor alpha LIG4 ligase IV, DNA, ATP-dependent LILRB2 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member LIN28B lin-28 homolog B (C. elegans) LIPA lipase A, lysosomal acid, cholesterol esterase LIPC lipase, hepatic LIPH lipase, member H LIPN lipase, family member N LITAF lipopolysaccharide-induced TNF factor LMAN1 lectin, mannose-binding, LMBR1 limb development membrane protein LMBRD1 LMBR1 domain containing LMF1 lipase maturation factor LMNA lamin A/C LMNB1 lamin B LMX1B LIM homeobox transcription factor 1, beta LOR loricrin LOXHD1 lipoxygenase homology domains LPA lipoprotein, Lp(a) LPAR6 lysophosphatidic acid receptor LPIN1 lipin LPIN2 lipin LPL lipoprotein lipase LPP LIM domain containing preferred translocation partner in lipoma LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O acyltransferase) 1626 LRBA LPS-responsive vesicle trafficking, beach and anchor containing LRIG2 leucine-rich repeats and immunoglobulin-like domains LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane domains LRP1 low density lipoprotein receptor-related protein LRP2 low density lipoprotein receptor-related protein LRP4 low density lipoprotein receptor-related protein LRP5 low density lipoprotein receptor-related protein LRPPRC leucine-rich pentatricopeptide repeat containing LRRC6 leucine rich repeat containing LRRC8A leucine rich repeat containing 8 family, member A LRRK2 leucine-rich repeat kinase

32 1637 LRSAM1 leucine rich repeat and sterile alpha motif containing LRTOMT leucine rich transmembrane and O-methyltransferase domain containing 1639 LTBP2 latent transforming growth factor beta binding protein LTBP3 latent transforming growth factor beta binding protein LTBP4 latent transforming growth factor beta binding protein LTC4S leukotriene C4 synthase LYL1 lymphoblastic leukemia associated hematopoiesis regulator LYRM4 LYR motif containing LYST lysosomal trafficking regulator LYZ lysozyme LZTFL1 leucine zipper transcription factor-like LZTS1 leucine zipper, putative tumor suppressor MAD1L1 MAD1 mitotic arrest deficient-like 1 (yeast) MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B 1652 MAGEL2 melanoma antigen family L MAGT1 magnesium transporter 1 X MAK male germ cell-associated kinase MALT1 MALT1 paracaspase MAMLD1 mastermind-like domain containing 1 X MAN1B1 mannosidase, alpha, class 1B, member MAN2B1 mannosidase, alpha, class 2B, member MANBA mannosidase, beta A, lysosomal MAOA monoamine oxidase A X MAOB monoamine oxidase B X MAP2K1 mitogen-activated protein kinase kinase MAP2K2 mitogen-activated protein kinase kinase MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 1665 MAP3K8 mitogen-activated protein kinase kinase kinase MAPK1 mitogen-activated protein kinase MAPK10 mitogen-activated protein kinase MAPK8IP3 mitogen-activated protein kinase 8 interacting protein MAPT microtubule-associated protein tau MARS2 methionyl-trna synthetase 2, mitochondrial MARVELD2 MARVEL domain containing MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 1673 MASP2 mannan-binding lectin serine peptidase MASTL microtubule associated serine/threonine kinase-like MAT1A methionine adenosyltransferase I, alpha MATN3 matrilin MATR3 matrin MBD5 methyl-cpg binding domain protein MBTPS2 membrane-bound transcription factor peptidase, site 2 X MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 1681 MC2R melanocortin 2 receptor (adrenocorticotropic hormone) MC4R melanocortin 4 receptor MCC mutated in colorectal cancers MCCC1 methylcrotonoyl-coa carboxylase 1 (alpha) MCCC2 methylcrotonoyl-coa carboxylase 2 (beta) MCEE methylmalonyl CoA epimerase

33 1687 MCF2 MCF.2 cell line derived transforming sequence X MCFD2 multiple coagulation factor deficiency MCM4 minichromosome maintenance complex component MCM6 minichromosome maintenance complex component MCOLN1 mucolipin MCPH1 microcephalin MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase MECP2 methyl CpG binding protein 2 X MED12 mediator complex subunit 12 X MED13L mediator complex subunit 13-like MED17 mediator complex subunit MED23 mediator complex subunit MED25 mediator complex subunit MEF2C myocyte enhancer factor 2C MEFV Mediterranean fever MEGF10 multiple EGF-like-domains MEGF8 multiple EGF-like-domains MEN1 multiple endocrine neoplasia I MEOX1 mesenchyme homeobox MERTK MER proto-oncogene, tyrosine kinase MESP2 mesoderm posterior basic helix-loop-helix transcription factor MET MET proto-oncogene, receptor tyrosine kinase MFN2 mitofusin MFRP membrane frizzled-related protein MFSD8 major facilitator superfamily domain containing MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-nacetylglucosaminyltransferase MGME1 mitochondrial genome maintenance exonuclease MGP matrix Gla protein MIB1 mindbomb E3 ubiquitin protein ligase MID1 midline 1 X MID2 midline 2 X MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor) 1719 MINPP1 multiple inositol-polyphosphate phosphatase MIPOL1 mirror-image polydactyly MIR17HG mir cluster host gene MIR184 microrna MIR96 microrna MITF microphthalmia-associated transcription factor MKKS McKusick-Kaufman syndrome MKRN3 makorin ring finger protein MKS1 Meckel syndrome, type MLC1 megalencephalic leukoencephalopathy with subcortical cysts MLF1 myeloid leukemia factor MLH1 mutl homolog MLH3 mutl homolog MLLT1 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, MLLT10 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, MLPH melanophilin MLYCD malonyl-coa decarboxylase MMAA methylmalonic aciduria (cobalamin deficiency) cbla type

34 1738 MMAB methylmalonic aciduria (cobalamin deficiency) cblb type MMACHC methylmalonic aciduria (cobalamin deficiency) cblc type, with homocystinuria 1740 MMADHC methylmalonic aciduria (cobalamin deficiency) cbld type, with homocystinuria 1741 MMP1 matrix metallopeptidase MMP13 matrix metallopeptidase MMP14 matrix metallopeptidase 14 (membrane-inserted) MMP2 matrix metallopeptidase MMP20 matrix metallopeptidase MMP9 matrix metallopeptidase MN1 meningioma (disrupted in balanced translocation) MNX1 motor neuron and pancreas homeobox MOCS1 molybdenum cofactor synthesis MOCS2 molybdenum cofactor synthesis MOG myelin oligodendrocyte glycoprotein MOGS mannosyl-oligosaccharide glucosidase MPC1 mitochondrial pyruvate carrier MPDU1 mannose-p-dolichol utilization defect MPDZ multiple PDZ domain protein MPI mannose phosphate isomerase MPL MPL proto-oncogene, thrombopoietin receptor MPLKIP M-phase specific PLK1 interacting protein MPO myeloperoxidase MPV17 MpV17 mitochondrial inner membrane protein MPZ myelin protein zero MRAP melanocortin 2 receptor accessory protein MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae) MRPL3 mitochondrial ribosomal protein L MRPL44 mitochondrial ribosomal protein L MRPS16 mitochondrial ribosomal protein S MRPS22 mitochondrial ribosomal protein S MS4A1 membrane-spanning 4-domains, subfamily A, member MSH2 muts homolog MSH6 muts homolog MSR1 macrophage scavenger receptor MSRB3 methionine sulfoxide reductase B MSTN myostatin MSX1 msh homeobox MSX2 msh homeobox MTAP methylthioadenosine phosphorylase MTF1 metal-regulatory transcription factor MTFMT mitochondrial methionyl-trna formyltransferase MTHFR methylenetetrahydrofolate reductase (NAD(P)H) MTM1 myotubularin 1 X MTMR2 myotubularin related protein MTO1 mitochondrial trna translation optimization MTPAP mitochondrial poly(a) polymerase MTR 5-methyltetrahydrofolate-homocysteine methyltransferase MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 1786 MTTP microsomal triglyceride transfer protein MUC1 mucin 1, cell surface associated MUSK muscle, skeletal, receptor tyrosine kinase MUT methylmalonyl CoA mutase MUTYH muty homolog

35 1791 MVK mevalonate kinase MYB v-myb avian myeloblastosis viral oncogene homolog MYBPC1 myosin binding protein C, slow type MYBPC3 myosin binding protein C, cardiac MYC v-myc avian myelocytomatosis viral oncogene homolog MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog 1797 MYD88 myeloid differentiation primary response MYF6 myogenic factor 6 (herculin) MYH11 myosin, heavy chain 11, smooth muscle MYH14 myosin, heavy chain 14, non-muscle MYH2 myosin, heavy chain 2, skeletal muscle, adult MYH3 myosin, heavy chain 3, skeletal muscle, embryonic MYH6 myosin, heavy chain 6, cardiac muscle, alpha MYH7 myosin, heavy chain 7, cardiac muscle, beta MYH8 myosin, heavy chain 8, skeletal muscle, perinatal MYH9 myosin, heavy chain 9, non-muscle MYL2 myosin, light chain 2, regulatory, cardiac, slow MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow MYLK myosin light chain kinase MYLK2 myosin light chain kinase MYO15A myosin XVA MYO1A myosin IA MYO1E myosin IE MYO3A myosin IIIA MYO5A myosin VA (heavy chain 12, myoxin) MYO5B myosin VB MYO6 myosin VI MYO7A myosin VIIA MYOC myocilin, trabecular meshwork inducible glucocorticoid response MYOT myotilin MYOZ2 myozenin MYPN myopalladin MYT1L myelin transcription factor 1-like NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit X NAGA N-acetylgalactosaminidase, alpha NAGLU N-acetylglucosaminidase, alpha NAGS N-acetylglutamate synthase NALCN sodium leak channel, non selective NANOS1 nanos homolog 1 (Drosophila) NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) NAT8L N-acetyltransferase 8-like (GCN5-related, putative) NBAS neuroblastoma amplified sequence NBEAL2 neurobeachin-like NBN nibrin NCF1 neutrophil cytosolic factor NCF2 neutrophil cytosolic factor NCF4 neutrophil cytosolic factor 4, 40kDa NCOA4 nuclear receptor coactivator NCSTN nicastrin NDE1 nude neurodevelopment protein NDN necdin, melanoma antigen (MAGE) family member NDP Norrie disease (pseudoglioma) X NDRG1 N-myc downstream regulated NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl)

36 1845 NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa X NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, kDa 1847 NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, kDa 1848 NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADHcoenzyme Q reductase) 1860 NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADHcoenzyme Q reductase) 1861 NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADHcoenzyme Q reductase) 1862 NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADHcoenzyme Q reductase) 1863 NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADHcoenzyme Q reductase) 1864 NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADHcoenzyme Q reductase) 1865 NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADHcoenzyme Q reductase) 1866 NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa NEB nebulin NECAB2 N-terminal EF-hand calcium binding protein NEFL neurofilament, light polypeptide NEK1 NIMA-related kinase NEK2 NIMA-related kinase NEK8 NIMA-related kinase NELFA negative elongation factor complex member A NEU1 sialidase 1 (lysosomal sialidase) NEUROD1 neuronal differentiation NEUROG3 neurogenin NEXN nexilin (F actin binding protein) NF1 neurofibromin NF2 neurofibromin 2 (merlin) NFIX nuclear factor I/X (CCAAT-binding transcription factor) NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells (p49/p100) 1883 NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 1884 NFU1 NFU1 iron-sulfur cluster scaffold NGF nerve growth factor (beta polypeptide) NGLY1 N-glycanase NHEJ1 nonhomologous end-joining factor

37 1888 NHLRC1 NHL repeat containing E3 ubiquitin protein ligase NHP2 NHP2 ribonucleoprotein NHS Nance-Horan syndrome (congenital cataracts and dental X anomalies) 1891 NIN ninein (GSK3B interacting protein) NIPA1 non imprinted in Prader-Willi/Angelman syndrome NIPAL4 NIPA-like domain containing NIPBL Nipped-B homolog (Drosophila) NKX2-1 NK2 homeobox NKX2-5 NK2 homeobox NKX2-6 NK2 homeobox NKX3-2 NK3 homeobox NLGN3 neuroligin 3 X NLGN4X neuroligin 4, X-linked X NLRP1 NLR family, pyrin domain containing NLRP12 NLR family, pyrin domain containing NLRP3 NLR family, pyrin domain containing NLRP7 NLR family, pyrin domain containing NME1 NME/NM23 nucleoside diphosphate kinase NME8 NME/NM23 family member NMNAT1 nicotinamide nucleotide adenylyltransferase NNT nicotinamide nucleotide transhydrogenase NOBOX NOBOX oogenesis homeobox NOD2 nucleotide-binding oligomerization domain containing NODAL nodal growth differentiation factor NOG noggin NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain) NOP10 NOP10 ribonucleoprotein NOP56 NOP56 ribonucleoprotein NOTCH1 notch NOTCH2 notch NOTCH3 notch NPC1 Niemann-Pick disease, type C NPC2 Niemann-Pick disease, type C NPHP1 nephronophthisis 1 (juvenile) NPHP3 nephronophthisis 3 (adolescent) NPHP4 nephronophthisis NPHS1 nephrosis 1, congenital, Finnish type (nephrin) NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin) NPPA natriuretic peptide A NPR2 natriuretic peptide receptor NR0B1 nuclear receptor subfamily 0, group B, member 1 X NR0B2 nuclear receptor subfamily 0, group B, member NR2E3 nuclear receptor subfamily 2, group E, member NR2F1 nuclear receptor subfamily 2, group F, member NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 1934 NR3C2 nuclear receptor subfamily 3, group C, member NR4A3 nuclear receptor subfamily 4, group A, member NR5A1 nuclear receptor subfamily 5, group A, member NRAS neuroblastoma RAS viral (v-ras) oncogene homolog NRG3 neuregulin NRL neural retina leucine zipper NRTN neurturin NRXN1 neurexin

38 1942 NSD1 nuclear receptor binding SET domain protein NSDHL NAD(P) dependent steroid dehydrogenase-like X NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor 1945 NSUN2 NOP2/Sun RNA methyltransferase family, member NT5C2 5'-nucleotidase, cytosolic II NT5C3A 5'-nucleotidase, cytosolic IIIA NT5E 5'-nucleotidase, ecto (CD73) NTF4 neurotrophin NTNG1 netrin G NTRK1 neurotrophic tyrosine kinase, receptor, type NTRK2 neurotrophic tyrosine kinase, receptor, type NUBPL nucleotide binding protein-like NUP214 nucleoporin 214kDa NUP62 nucleoporin 62kDa NYX nyctalopin X OAT ornithine aminotransferase OBSL1 obscurin-like OCA2 oculocutaneous albinism II OCLN occludin OCRL oculocerebrorenal syndrome of Lowe X OFD1 oral-facial-digital syndrome 1 X OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) OGG1 8-oxoguanine DNA glycosylase OPA1 optic atrophy 1 (autosomal dominant) OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 1967 OPHN1 oligophrenin 1 X OPLAH 5-oxoprolinase (ATP-hydrolysing) OPN1LW opsin 1 (cone pigments), long-wave-sensitive X OPN1MW opsin 1 (cone pigments), medium-wave-sensitive X OPN1SW opsin 1 (cone pigments), short-wave-sensitive OPTN optineurin ORAI1 ORAI calcium release-activated calcium modulator ORC1 origin recognition complex, subunit ORC4 origin recognition complex, subunit ORC6 origin recognition complex, subunit OSMR oncostatin M receptor OSTM1 osteopetrosis associated transmembrane protein OTC ornithine carbamoyltransferase X OTOA otoancorin OTOF otoferlin OTOG otogelin OTOGL otogelin-like OTX2 orthodenticle homeobox OXCT1 3-oxoacid CoA transferase P2RX2 purinergic receptor P2X, ligand gated ion channel, P2RY11 purinergic receptor P2Y, G-protein coupled, P2RY12 purinergic receptor P2Y, G-protein coupled, P3H1 prolyl 3-hydroxylase P3H2 prolyl 3-hydroxylase P4HB prolyl 4-hydroxylase, beta polypeptide PABPN1 poly(a) binding protein, nuclear PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit (45kDa) 1994 PAH phenylalanine hydroxylase

39 1995 PAK3 p21 protein (Cdc42/Rac)-activated kinase 3 X PALB2 partner and localizer of BRCA PANK2 pantothenate kinase PAPPA pregnancy-associated plasma protein A, pappalysin PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase PARK2 parkin RBR E3 ubiquitin protein ligase PARK7 parkinson protein PARP1 poly (ADP-ribose) polymerase PAX1 paired box PAX2 paired box PAX3 paired box PAX4 paired box PAX6 paired box PAX7 paired box PAX8 paired box PAX9 paired box PBX1 pre-b-cell leukemia homeobox PC pyruvate carboxylase PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha 2014 PCCA propionyl CoA carboxylase, alpha polypeptide PCCB propionyl CoA carboxylase, beta polypeptide PCDH15 protocadherin-related PCDH19 protocadherin 19 X PCK1 phosphoenolpyruvate carboxykinase 1 (soluble) PCK2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) PCM1 pericentriolar material PCNT pericentrin PCSK1 proprotein convertase subtilisin/kexin type PCSK9 proprotein convertase subtilisin/kexin type PCYT1A phosphate cytidylyltransferase 1, choline, alpha PDCD10 programmed cell death PDE11A phosphodiesterase 11A PDE4D phosphodiesterase 4D, camp-specific PDE6A phosphodiesterase 6A, cgmp-specific, rod, alpha PDE6B phosphodiesterase 6B, cgmp-specific, rod, beta PDE6C phosphodiesterase 6C, cgmp-specific, cone, alpha prime PDE6D phosphodiesterase 6D, cgmp-specific, rod, delta PDE6G phosphodiesterase 6G, cgmp-specific, rod, gamma PDE6H phosphodiesterase 6H, cgmp-specific, cone, gamma PDE8B phosphodiesterase 8B PDGFB platelet-derived growth factor beta polypeptide PDGFRA platelet-derived growth factor receptor, alpha polypeptide PDGFRB platelet-derived growth factor receptor, beta polypeptide PDGFRL platelet-derived growth factor receptor-like PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 X PDHB pyruvate dehydrogenase (lipoamide) beta PDHX pyruvate dehydrogenase complex, component X PDK3 pyruvate dehydrogenase kinase, isozyme 3 X PDP1 pyruvate dehyrogenase phosphatase catalytic subunit PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit PDX1 pancreatic and duodenal homeobox PDYN prodynorphin PDZD7 PDZ domain containing PECR peroxisomal trans-2-enoyl-coa reductase

40 2050 PEPD peptidase D PER2 period circadian clock PET100 PET100 homolog (S. cerevisiae) PEX1 peroxisomal biogenesis factor PEX10 peroxisomal biogenesis factor PEX11B peroxisomal biogenesis factor 11 beta PEX12 peroxisomal biogenesis factor PEX13 peroxisomal biogenesis factor PEX14 peroxisomal biogenesis factor PEX16 peroxisomal biogenesis factor PEX19 peroxisomal biogenesis factor PEX2 peroxisomal biogenesis factor PEX26 peroxisomal biogenesis factor PEX3 peroxisomal biogenesis factor PEX5 peroxisomal biogenesis factor PEX6 peroxisomal biogenesis factor PEX7 peroxisomal biogenesis factor PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 X PFKM phosphofructokinase, muscle PFN1 profilin PGAM2 phosphoglycerate mutase 2 (muscle) PGAP2 post-gpi attachment to proteins PGD phosphogluconate dehydrogenase PGK1 phosphoglycerate kinase 1 X PGM1 phosphoglucomutase PGR progesterone receptor PHACTR1 phosphatase and actin regulator PHB prohibitin PHC1 polyhomeotic homolog 1 (Drosophila) PHEX phosphate regulating endopeptidase homolog, X-linked X PHF6 PHD finger protein 6 X PHF8 PHD finger protein 8 X PHGDH phosphoglycerate dehydrogenase PHIP pleckstrin homology domain interacting protein PHKA1 phosphorylase kinase, alpha 1 (muscle) X PHKA2 phosphorylase kinase, alpha 2 (liver) X PHKB phosphorylase kinase, beta PHKG2 phosphorylase kinase, gamma 2 (testis) PHOX2A paired-like homeobox 2a PHOX2B paired-like homeobox 2b PHYH phytanoyl-coa 2-hydroxylase PI3 peptidase inhibitor 3, skin-derived PICALM phosphatidylinositol binding clathrin assembly protein PIEZO1 piezo-type mechanosensitive ion channel component PIEZO2 piezo-type mechanosensitive ion channel component PIGA phosphatidylinositol glycan anchor biosynthesis, class A X PIGL phosphatidylinositol glycan anchor biosynthesis, class L PIGM phosphatidylinositol glycan anchor biosynthesis, class M PIGN phosphatidylinositol glycan anchor biosynthesis, class N PIGO phosphatidylinositol glycan anchor biosynthesis, class O PIGT phosphatidylinositol glycan anchor biosynthesis, class T PIGV phosphatidylinositol glycan anchor biosynthesis, class V PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 2103 PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)

41 2105 PIK3R5 phosphoinositide-3-kinase, regulatory subunit PIKFYVE phosphoinositide kinase, FYVE finger containing PINK1 PTEN induced putative kinase PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma PITPNM3 PITPNM family member PITX1 paired-like homeodomain PITX2 paired-like homeodomain PITX3 paired-like homeodomain PKD1 polycystic kidney disease 1 (autosomal dominant) PKD2 polycystic kidney disease 2 (autosomal dominant) PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) PKLR pyruvate kinase, liver and RBC PKP1 plakophilin PKP2 plakophilin PLA2G5 phospholipase A2, group V PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) 2122 PLAG1 pleiomorphic adenoma gene PLAT plasminogen activator, tissue PLAU plasminogen activator, urokinase PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) PLCB4 phospholipase C, beta PLCD1 phospholipase C, delta PLCE1 phospholipase C, epsilon PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific) PLEC plectin PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member PLEKHM1 pleckstrin homology domain containing, family M (with RUN domain) member PLG plasminogen PLIN1 perilipin PLN phospholamban PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase PLP1 proteolipid protein 1 X PLS3 plastin 3 X PMM2 phosphomannomutase PMP22 peripheral myelin protein PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) PNKD paroxysmal nonkinesigenic dyskinesia PNKP polynucleotide kinase 3'-phosphatase PNLIP pancreatic lipase PNMT phenylethanolamine N-methyltransferase PNP purine nucleoside phosphorylase PNPLA1 patatin-like phospholipase domain containing PNPLA2 patatin-like phospholipase domain containing PNPLA6 patatin-like phospholipase domain containing PNPO pyridoxamine 5'-phosphate oxidase PNPT1 polyribonucleotide nucleotidyltransferase POC1A POC1 centriolar protein A POF1B premature ovarian failure, 1B X

42 2157 POFUT1 protein O-fucosyltransferase POGLUT1 protein O-glucosyltransferase POLA1 polymerase (DNA directed), alpha 1, catalytic subunit X POLD1 polymerase (DNA directed), delta 1, catalytic subunit POLE polymerase (DNA directed), epsilon, catalytic subunit POLG polymerase (DNA directed), gamma POLG2 polymerase (DNA directed), gamma 2, accessory subunit POLH polymerase (DNA directed), eta POLR1C polymerase (RNA) I polypeptide C, 30kDa POLR1D polymerase (RNA) I polypeptide D, 16kDa POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa POLR3B polymerase (RNA) III (DNA directed) polypeptide B POMC proopiomelanocortin POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta ,2-) 2171 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta ,4-) 2172 POMK protein-o-mannose kinase POMP proteasome maturation protein POMT1 protein-o-mannosyltransferase POMT2 protein-o-mannosyltransferase PON1 paraoxonase POR P450 (cytochrome) oxidoreductase PORCN porcupine homolog (Drosophila) X POU1F1 POU class 1 homeobox POU3F4 POU class 3 homeobox 4 X POU4F3 POU class 4 homeobox POU6F2 POU class 6 homeobox PPARG peroxisome proliferator-activated receptor gamma PPIB peptidylprolyl isomerase B (cyclophilin B) PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D PPOX protoporphyrinogen oxidase PPP1R3A protein phosphatase 1, regulatory subunit 3A PPP2R1B protein phosphatase 2, regulatory subunit A, beta PPP2R2B protein phosphatase 2, regulatory subunit B, beta PPP2R5D protein phosphatase 2, regulatory subunit B', delta PPT1 palmitoyl-protein thioesterase PQBP1 polyglutamine binding protein 1 X PRCC papillary renal cell carcinoma (translocation-associated) PRCD progressive rod-cone degeneration PRDM16 PR domain containing PRDM5 PR domain containing PRF1 perforin 1 (pore forming protein) PRG4 proteoglycan PRICKLE1 prickle homolog 1 (Drosophila) PRICKLE2 prickle homolog 2 (Drosophila) PRIMPOL primase and polymerase (DNA-directed) PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit PRKAR1A protein kinase, camp-dependent, regulatory, type I, alpha PRKCA protein kinase C, alpha PRKCD protein kinase C, delta PRKCG protein kinase C, gamma PRKCSH protein kinase C substrate 80K-H PRKG1 protein kinase, cgmp-dependent, type I PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator

43 2210 PRLR prolactin receptor PRMT9 protein arginine methyltransferase PRNP prion protein PROC protein C (inactivator of coagulation factors Va and VIIIa) PRODH proline dehydrogenase (oxidase) PROK2 prokineticin PROKR2 prokineticin receptor PROM1 prominin PROP1 PROP paired-like homeobox PROS1 protein S (alpha) PROX2 prospero homeobox PRPF3 pre-mrna processing factor PRPF31 pre-mrna processing factor PRPF6 pre-mrna processing factor PRPF8 pre-mrna processing factor PRPH2 peripherin 2 (retinal degeneration, slow) PRPS1 phosphoribosyl pyrophosphate synthetase 1 X PRPS2 phosphoribosyl pyrophosphate synthetase 2 X PRRT2 proline-rich transmembrane protein PRRX1 paired related homeobox PRSS1 protease, serine, 1 (trypsin 1) PRSS12 protease, serine, 12 (neurotrypsin, motopsin) PRSS56 protease, serine, PRX periaxin PSAP prosaposin PSAT1 phosphoserine aminotransferase PSEN1 presenilin PSEN2 presenilin PSENEN presenilin enhancer gamma secretase subunit PSG1 pregnancy specific beta-1-glycoprotein PSMA7 proteasome (prosome, macropain) subunit, alpha type, PSMB8 proteasome (prosome, macropain) subunit, beta type, PSMC3IP PSMC3 interacting protein PSPH phosphoserine phosphatase PSTPIP1 proline-serine-threonine phosphatase interacting protein PTCH1 patched PTCH2 patched PTCHD1 patched domain containing 1 X PTDSS1 phosphatidylserine synthase PTEN phosphatase and tensin homolog PTF1A pancreas specific transcription factor, 1a PTGIS prostaglandin I2 (prostacyclin) synthase PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 2253 PTH parathyroid hormone PTH1R parathyroid hormone 1 receptor PTHLH parathyroid hormone-like hormone PTPN11 protein tyrosine phosphatase, non-receptor type PTPN12 protein tyrosine phosphatase, non-receptor type PTPN14 protein tyrosine phosphatase, non-receptor type PTPN2 protein tyrosine phosphatase, non-receptor type PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) PTPRC protein tyrosine phosphatase, receptor type, C PTPRJ protein tyrosine phosphatase, receptor type, J PTPRO protein tyrosine phosphatase, receptor type, O PTPRQ protein tyrosine phosphatase, receptor type, Q

44 2265 PTRF polymerase I and transcript release factor PTS 6-pyruvoyltetrahydropterin synthase PUF60 poly-u binding splicing factor 60KDa PUS1 pseudouridylate synthase PVR poliovirus receptor PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C) PVRL4 poliovirus receptor-related PYCR1 pyrroline-5-carboxylate reductase PYGL phosphorylase, glycogen, liver PYGM phosphorylase, glycogen, muscle QDPR quinoid dihydropteridine reductase RAB18 RAB18, member RAS oncogene family RAB23 RAB23, member RAS oncogene family RAB27A RAB27A, member RAS oncogene family RAB28 RAB28, member RAS oncogene family RAB33B RAB33B, member RAS oncogene family RAB39B RAB39B, member RAS oncogene family X RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic) RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic) RAB40AL RAB40A, member RAS oncogene family-like X RAB7A RAB7A, member RAS oncogene family RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) 2287 RAD21 RAD21 homolog (S. pombe) RAD50 RAD50 homolog (S. cerevisiae) RAD51 RAD51 recombinase RAD51C RAD51 paralog C RAD54B RAD54 homolog B (S. cerevisiae) RAD54L RAD54-like (S. cerevisiae) RAF1 Raf-1 proto-oncogene, serine/threonine kinase RAG1 recombination activating gene RAG2 recombination activating gene RAI1 retinoic acid induced RALGDS ral guanine nucleotide dissociation stimulator RANBP2 RAN binding protein RAPGEF1 Rap guanine nucleotide exchange factor (GEF) RAPSN receptor-associated protein of the synapse RARA retinoic acid receptor, alpha RARB retinoic acid receptor, beta RARS2 arginyl-trna synthetase 2, mitochondrial RASA1 RAS p21 protein activator (GTPase activating protein) RASSF1 Ras association (RalGDS/AF-6) domain family member RAX retina and anterior neural fold homeobox RAX2 retina and anterior neural fold homeobox RB1 retinoblastoma RB1CC1 RB1-inducible coiled-coil RBBP8 retinoblastoma binding protein RBM10 RNA binding motif protein 10 X RBM20 RNA binding motif protein RBM28 RNA binding motif protein RBM8A RNA binding motif protein 8A RBP3 retinol binding protein 3, interstitial RBP4 retinol binding protein 4, plasma RBPJ recombination signal binding protein for immunoglobulin kappa J region 2318 RCVRN recoverin

45 2319 RD3 retinal degeneration RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) RDH5 retinol dehydrogenase 5 (11-cis/9-cis) RDX radixin RECQL4 RecQ protein-like REEP1 receptor accessory protein REEP2 receptor accessory protein REG1A regenerating islet-derived 1 alpha RELN reelin REN renin RENBP renin binding protein X RET ret proto-oncogene RFT1 RFT1 homolog (S. cerevisiae) RFX5 regulatory factor X, 5 (influences HLA class II expression) RFX6 regulatory factor X, RFXANK regulatory factor X-associated ankyrin-containing protein RFXAP regulatory factor X-associated protein RGR retinal G protein coupled receptor RGS7 regulator of G-protein signaling RGS9 regulator of G-protein signaling RGS9BP regulator of G protein signaling 9 binding protein RHAG Rh-associated glycoprotein RHBDF2 rhomboid 5 homolog 2 (Drosophila) RHO rhodopsin RIMS1 regulating synaptic membrane exocytosis RIN2 Ras and Rab interactor RIPK4 receptor-interacting serine-threonine kinase RIT1 Ras-like without CAAX RLBP1 retinaldehyde binding protein RLIM ring finger protein, LIM domain interacting X RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae) RMRP RNA component of mitochondrial RNA processing endoribonuclease 2351 RNASEH2A ribonuclease H2, subunit A RNASEH2B ribonuclease H2, subunit B RNASEH2C ribonuclease H2, subunit C RNASEL ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) RNASET2 ribonuclease T RNF135 ring finger protein RNF139 ring finger protein RNF168 ring finger protein 168, E3 ubiquitin protein ligase RNF170 ring finger protein RNF212 ring finger protein RNF213 ring finger protein RNF216 ring finger protein RNF6 ring finger protein (C3H2C3 type) RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila) ROGDI rogdi homolog (Drosophila) ROM1 retinal outer segment membrane protein ROR2 receptor tyrosine kinase-like orphan receptor RP1 retinitis pigmentosa 1 (autosomal dominant) RP1L1 retinitis pigmentosa 1-like RP2 retinitis pigmentosa 2 (X-linked recessive) X RP9 retinitis pigmentosa 9 (autosomal dominant)

46 2374 RPE65 retinal pigment epithelium-specific protein 65kDa RPGR retinitis pigmentosa GTPase regulator X RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein RPGRIP1L RPGRIP1-like RPIA ribose 5-phosphate isomerase A RPL10 ribosomal protein L10 X RPL11 ribosomal protein L RPL15 ribosomal protein L RPL21 ribosomal protein L RPL26 ribosomal protein L RPL35A ribosomal protein L35a RPL5 ribosomal protein L RPS10 ribosomal protein S RPS14 ribosomal protein S RPS17 ribosomal protein S RPS19 ribosomal protein S RPS24 ribosomal protein S RPS26 ribosomal protein S RPS4X ribosomal protein S4, X-linked X RPS4Y1 ribosomal protein S4, Y-linked 1 Y RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3 X RPS7 ribosomal protein S RPSA ribosomal protein SA RRM2B ribonucleotide reductase M2 B (TP53 inducible) RS1 retinoschisin 1 X RSPH1 radial spoke head 1 homolog (Chlamydomonas) RSPH4A radial spoke head 4 homolog A (Chlamydomonas) RSPH9 radial spoke head 9 homolog (Chlamydomonas) RSPO1 R-spondin RSPO4 R-spondin RTEL1 regulator of telomere elongation helicase RTN2 reticulon RTTN rotatin RUNX1 runt-related transcription factor RUNX2 runt-related transcription factor RXFP2 relaxin/insulin-like family peptide receptor RYR1 ryanodine receptor 1 (skeletal) RYR2 ryanodine receptor 2 (cardiac) RYR3 ryanodine receptor S100G S100 calcium binding protein G X SACS sacsin molecular chaperone SAG S-antigen; retina and pineal gland (arrestin) SALL1 spalt-like transcription factor SALL4 spalt-like transcription factor SAMD9 sterile alpha motif domain containing SAMHD1 SAM domain and HD domain SAR1B secretion associated, Ras related GTPase 1B SARS seryl-trna synthetase SART3 squamous cell carcinoma antigen recognized by T cells SAT1 spermidine/spermine N1-acetyltransferase 1 X SATB2 SATB homeobox SBDS Shwachman-Bodian-Diamond syndrome SBF1 SET binding factor SBF2 SET binding factor SC5D sterol-c5-desaturase SCAPER S-phase cyclin A-associated protein in the ER

47 2430 SCARB2 scavenger receptor class B, member SCARF2 scavenger receptor class F, member SCN10A sodium channel, voltage gated, type X alpha subunit SCN11A sodium channel, voltage gated, type XI alpha subunit SCN1A sodium channel, voltage gated, type I alpha subunit SCN1B sodium channel, voltage gated, type I beta subunit SCN2A sodium channel, voltage gated, type II alpha subunit SCN2B sodium channel, voltage gated, type II beta subunit SCN3B sodium channel, voltage gated, type III beta subunit SCN4A sodium channel, voltage gated, type IV alpha subunit SCN4B sodium channel, voltage gated, type IV beta subunit SCN5A sodium channel, voltage gated, type V alpha subunit SCN8A sodium channel, voltage gated, type VIII alpha subunit SCN9A sodium channel, voltage gated, type IX alpha subunit SCNN1A sodium channel, non voltage gated 1 alpha subunit SCNN1B sodium channel, non voltage gated 1 beta subunit SCNN1G sodium channel, non voltage gated 1 gamma subunit SCO1 SCO1 cytochrome c oxidase assembly protein SCO2 SCO2 cytochrome c oxidase assembly protein SCP2 sterol carrier protein SDCCAG8 serologically defined colon cancer antigen SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) SDHAF1 succinate dehydrogenase complex assembly factor SDHAF2 succinate dehydrogenase complex assembly factor SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip) SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa 2456 SDHD succinate dehydrogenase complex, subunit D, integral membrane protein 2457 SEC23A Sec23 homolog A (S. cerevisiae) SEC23B Sec23 homolog B (S. cerevisiae) SEC63 SEC63 homolog (S. cerevisiae) SECISBP2 SECIS binding protein SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 2462 SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 2463 SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 2464 SEPN1 selenoprotein N, SEPSECS Sep (O-phosphoserine) trna:sec (selenocysteine) trna synthase Sep 12 septin Sep 09 septin SERAC1 serine active site containing SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member SERPINA6 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, X antitrypsin), member SERPINB6 serpin peptidase inhibitor, clade B (ovalbumin), member SERPINB7 serpin peptidase inhibitor, clade B (ovalbumin), member SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member

48 2477 SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 2481 SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member SETBP1 SET binding protein SETD5 SET domain containing SETX senataxin SF3B1 splicing factor 3b, subunit 1, 155kDa SF3B4 splicing factor 3b, subunit 4, 49kDa SFTPA1 surfactant protein A SFTPA2 surfactant protein A SFTPB surfactant protein B SFTPC surfactant protein C SFTPD surfactant protein D SFXN4 sideroflexin SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) SGCE sarcoglycan, epsilon SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) SGSH N-sulfoglucosamine sulfohydrolase SH2B3 SH2B adaptor protein SH2D1A SH2 domain containing 1A X SH3BP2 SH3-domain binding protein SH3GL1 SH3-domain GRB2-like SH3PXD2B SH3 and PX domains 2B SH3TC2 SH3 domain and tetratricopeptide repeats SHANK2 SH3 and multiple ankyrin repeat domains SHANK3 SH3 and multiple ankyrin repeat domains SHFM1 split hand/foot malformation (ectrodactyly) type SHH sonic hedgehog SHOC2 soc-2 suppressor of clear homolog (C. elegans) SHOX short stature homeobox Y SHOX short stature homeobox X SHROOM4 shroom family member 4 X SI sucrase-isomaltase (alpha-glucosidase) SIGMAR1 sigma non-opioid intracellular receptor SIL1 SIL1 nucleotide exchange factor SIM1 single-minded family bhlh transcription factor SIX1 SIX homeobox SIX3 SIX homeobox SIX5 SIX homeobox SIX6 SIX homeobox SKI SKI proto-oncogene SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae) SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member SLC10A3 solute carrier family 10, member 3 X SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member

49 2527 SLC12A3 solute carrier family 12 (sodium/chloride transporter), member SLC12A6 solute carrier family 12 (potassium/chloride transporter), member SLC16A12 solute carrier family 16, member SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter) X SLC17A5 solute carrier family 17 (acidic sugar transporter), member SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member SLC19A2 solute carrier family 19 (thiamine transporter), member SLC19A3 solute carrier family 19 (thiamine transporter), member SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member SLC20A2 solute carrier family 20 (phosphate transporter), member SLC22A12 solute carrier family 22 (organic anion/urate transporter), member SLC22A18 solute carrier family 22, member SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member SLC24A1 solute carrier family 24 (sodium/potassium/calcium exchanger), member SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member SLC25A38 solute carrier family 25, member SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member SLC26A2 solute carrier family 26 (anion exchanger), member SLC26A3 solute carrier family 26 (anion exchanger), member SLC26A4 solute carrier family 26 (anion exchanger), member SLC26A5 solute carrier family 26 (anion exchanger), member SLC26A8 solute carrier family 26 (anion exchanger), member SLC27A4 solute carrier family 27 (fatty acid transporter), member SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member SLC2A1 solute carrier family 2 (facilitated glucose transporter), member

50 2561 SLC2A10 solute carrier family 2 (facilitated glucose transporter), member SLC2A2 solute carrier family 2 (facilitated glucose transporter), member SLC2A9 solute carrier family 2 (facilitated glucose transporter), member SLC30A10 solute carrier family 30, member SLC30A2 solute carrier family 30 (zinc transporter), member SLC31A1 solute carrier family 31 (copper transporter), member SLC33A1 solute carrier family 33 (acetyl-coa transporter), member SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2 X SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D SLC36A2 solute carrier family 36 (proton/amino acid symporter), member SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member SLC39A13 solute carrier family 39 (zinc transporter), member SLC39A4 solute carrier family 39 (zinc transporter), member SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member SLC40A1 solute carrier family 40 (iron-regulated transporter), member SLC45A2 solute carrier family 45, member SLC46A1 solute carrier family 46 (folate transporter), member SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) 2585 SLC4A11 solute carrier family 4, sodium borate transporter, member SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member SLC52A2 solute carrier family 52 (riboflavin transporter), member SLC52A3 solute carrier family 52 (riboflavin transporter), member SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member SLC6A1 solute carrier family 6 (neurotransmitter transporter), member SLC6A19 solute carrier family 6 (neutral amino acid transporter), member SLC6A2 solute carrier family 6 (neurotransmitter transporter), member SLC6A20 solute carrier family 6 (proline IMINO transporter), member SLC6A3 solute carrier family 6 (neurotransmitter transporter), member SLC6A5 solute carrier family 6 (neurotransmitter transporter), member

51 2599 SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8 X SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+l system), member SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo, system), member SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton X antiporter 6), member SLCO1B1 solute carrier organic anion transporter family, member 1B SLCO1B3 solute carrier organic anion transporter family, member 1B SLCO2A1 solute carrier organic anion transporter family, member 2A SLITRK1 SLIT and NTRK-like family, member SLITRK6 SLIT and NTRK-like family, member SLURP1 secreted LY6/PLAUR domain containing SLX4 SLX4 structure-specific endonuclease subunit SMAD3 SMAD family member SMAD4 SMAD family member SMAD6 SMAD family member SMAD9 SMAD family member SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member SMC1A structural maintenance of chromosomes 1A X SMC3 structural maintenance of chromosomes SMCHD1 structural maintenance of chromosomes flexible hinge domain containing SMN1 survival of motor neuron 1, telomeric SMOC1 SPARC related modular calcium binding SMOC2 SPARC related modular calcium binding SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal SMPX small muscle protein, X-linked X SMS spermine synthase X SNAI2 snail family zinc finger SNAP29 synaptosomal-associated protein, 29kDa SNCA synuclein, alpha (non A4 component of amyloid precursor) SNCB synuclein, beta SNIP1 Smad nuclear interacting protein SNRNP200 small nuclear ribonucleoprotein 200kDa (U5) SNRPE small nuclear ribonucleoprotein polypeptide E SNRPN small nuclear ribonucleoprotein polypeptide N SNTA1 syntrophin, alpha SNX10 sorting nexin SOBP sine oculis binding protein homolog (Drosophila) SOD1 superoxide dismutase 1, soluble SOS1 son of sevenless homolog 1 (Drosophila) SOST sclerostin

52 2644 SOX10 SRY (sex determining region Y)-box SOX17 SRY (sex determining region Y)-box SOX18 SRY (sex determining region Y)-box SOX2 SRY (sex determining region Y)-box SOX3 SRY (sex determining region Y)-box 3 X SOX9 SRY (sex determining region Y)-box SP110 SP110 nuclear body protein SP7 Sp7 transcription factor SPAG1 sperm associated antigen SPAST spastin SPATA16 spermatogenesis associated SPATA7 spermatogenesis associated SPECC1L sperm antigen with calponin homology and coiled-coil domains like 2657 SPG11 spastic paraplegia 11 (autosomal recessive) SPG20 spastic paraplegia 20 (Troyer syndrome) SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome) SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) SPINK1 serine peptidase inhibitor, Kazal type SPINK5 serine peptidase inhibitor, Kazal type SPINT2 serine peptidase inhibitor, Kunitz type, SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP oxidoreductase) 2665 SPRED1 sprouty-related, EVH1 domain containing SPRY4 sprouty homolog 4 (Drosophila) SPTA1 spectrin, alpha, erythrocytic SPTAN1 spectrin, alpha, non-erythrocytic SPTB spectrin, beta, erythrocytic SPTBN2 spectrin, beta, non-erythrocytic SPTLC1 serine palmitoyltransferase, long chain base subunit SPTLC2 serine palmitoyltransferase, long chain base subunit SQSTM1 sequestosome SRCAP Snf2-related CREBBP activator protein SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alphasteroid delta 4-dehydrogenase alpha 2) 2676 SRD5A3 steroid 5 alpha-reductase SRP72 signal recognition particle 72kDa SRPX2 sushi-repeat containing protein, X-linked 2 X SRY sex determining region Y Y SSTR5 somatostatin receptor SSX1 synovial sarcoma, X breakpoint 1 X SSX2 synovial sarcoma, X breakpoint 2 X ST14 suppression of tumorigenicity 14 (colon carcinoma) ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase STAB2 stabilin STAC3 SH3 and cysteine rich domain STAG1 stromal antigen STAMBP STAM binding protein STAR steroidogenic acute regulatory protein STAT1 signal transducer and activator of transcription 1, 91kDa STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) 2693 STAT4 signal transducer and activator of transcription STAT5B signal transducer and activator of transcription 5B STEAP3 STEAP family member 3, metalloreductase

53 2696 STIL SCL/TAL1 interrupting locus STIM1 stromal interaction molecule STK11 serine/threonine kinase STK4 serine/threonine kinase STOM stomatin STOX1 storkhead box STRA6 stimulated by retinoic acid STRADA STE20-related kinase adaptor alpha STRC stereocilin STS steroid sulfatase (microsomal), isozyme S X STT3A STT3A, subunit of the oligosaccharyltransferase complex (catalytic) STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic) STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase 2709 STX11 syntaxin STX16 syntaxin STXBP1 syntaxin binding protein STXBP2 syntaxin binding protein SUCLA2 succinate-coa ligase, ADP-forming, beta subunit SUCLG1 succinate-coa ligase, alpha subunit SUFU suppressor of fused homolog (Drosophila) SUMF1 sulfatase modifying factor SUMO1 small ubiquitin-like modifier SUOX sulfite oxidase SURF1 surfeit SYCP3 synaptonemal complex protein SYN1 synapsin I X SYNCRIP synaptotagmin binding, cytoplasmic RNA interacting protein SYNE1 spectrin repeat containing, nuclear envelope SYNE2 spectrin repeat containing, nuclear envelope SYNE4 spectrin repeat containing, nuclear envelope family member SYNGAP1 synaptic Ras GTPase activating protein SYNJ1 synaptojanin SYP synaptophysin X SYT14 synaptotagmin XIV SZT2 seizure threshold 2 homolog (mouse) TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein TAC3 tachykinin TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I 2734 TACR3 tachykinin receptor TACSTD2 tumor-associated calcium signal transducer TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)- X associated factor, 250kDa 2737 TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP) associated factor, 68kDa 2738 TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP) associated factor, 150kDa 2739 TAF7L TAF7-like RNA polymerase II, TATA box binding protein (TBP)- X associated factor, 50kDa 2740 TAL1 T-cell acute lymphocytic leukemia TALDO1 transaldolase TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing

54 2743 TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) TAPBP TAP binding protein (tapasin) TARDBP TAR DNA binding protein TAT tyrosine aminotransferase TAZ tafazzin X TBC1D20 TBC1 domain family, member TBC1D24 TBC1 domain family, member TBC1D7 TBC1 domain family, member TBCE tubulin folding cofactor E TBP TATA box binding protein TBX1 T-box TBX15 T-box TBX19 T-box TBX20 T-box TBX21 T-box TBX22 T-box 22 X TBX3 T-box TBX4 T-box TBX5 T-box TBX6 T-box TBXAS1 thromboxane A synthase 1 (platelet) TCAP titin-cap TCF12 transcription factor TCF3 transcription factor TCF4 transcription factor TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V subunit A TCL1A T-cell leukemia/lymphoma 1A TCN2 transcobalamin II TCOF1 Treacher Collins-Franceschetti syndrome TCTN1 tectonic family member TCTN2 tectonic family member TCTN3 tectonic family member TDGF1 teratocarcinoma-derived growth factor TDP1 tyrosyl-dna phosphodiesterase TDRD7 tudor domain containing TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor) 2780 TECPR2 tectonin beta-propeller repeat containing TECR trans-2,3-enoyl-coa reductase TECTA tectorin alpha TEK TEK tyrosine kinase, endothelial TENM3 teneurin transmembrane protein TERC telomerase RNA component TERT telomerase reverse transcriptase TET2 tet methylcytosine dioxygenase TF transferrin TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 2790 TFAP2B transcription factor AP-2 beta (activating enhancer binding protein beta) 2791 TFE3 transcription factor binding to IGHM enhancer 3 X TFG TRK-fused gene TFR2 transferrin receptor TG thyroglobulin

55 2795 TGFA transforming growth factor, alpha TGFB1 transforming growth factor, beta TGFB2 transforming growth factor, beta TGFB3 transforming growth factor, beta TGFBI transforming growth factor, beta-induced, 68kDa TGFBR1 transforming growth factor, beta receptor TGFBR2 transforming growth factor, beta receptor II (70/80kDa) TGIF1 TGFB-induced factor homeobox TGM1 transglutaminase TGM5 transglutaminase TGM6 transglutaminase TH tyrosine hydroxylase THAP1 THAP domain containing, apoptosis associated protein THBD thrombomodulin THOC2 THO complex 2 X THOC6 THO complex 6 homolog (Drosophila) THPO thrombopoietin THRA thyroid hormone receptor, alpha THRB thyroid hormone receptor, beta TIA1 TIA1 cytotoxic granule-associated RNA binding protein TICAM1 toll-like receptor adaptor molecule TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) X TIMP3 TIMP metallopeptidase inhibitor TINF2 TERF1 (TRF1)-interacting nuclear factor TJP2 tight junction protein TK2 thymidine kinase 2, mitochondrial TLL1 tolloid-like TLR3 toll-like receptor TLX1 T-cell leukemia homeobox TMC1 transmembrane channel-like TMC6 transmembrane channel-like TMC8 transmembrane channel-like TMCO1 transmembrane and coiled-coil domains TMEM114 transmembrane protein TMEM126A transmembrane protein 126A TMEM135 transmembrane protein TMEM138 transmembrane protein TMEM165 transmembrane protein TMEM216 transmembrane protein TMEM231 transmembrane protein TMEM237 transmembrane protein TMEM43 transmembrane protein TMEM5 transmembrane protein TMEM67 transmembrane protein TMEM70 transmembrane protein TMIE transmembrane inner ear TMLHE trimethyllysine hydroxylase, epsilon X TMPO thymopoietin TMPRSS15 transmembrane protease, serine TMPRSS3 transmembrane protease, serine TMPRSS6 transmembrane protease, serine TNC tenascin C TNF tumor necrosis factor TNFRSF10B tumor necrosis factor receptor superfamily, member 10b

56 2849 TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator 2850 TNFRSF11B tumor necrosis factor receptor superfamily, member 11b TNFRSF13B tumor necrosis factor receptor superfamily, member 13B TNFRSF13C tumor necrosis factor receptor superfamily, member 13C TNFRSF1A tumor necrosis factor receptor superfamily, member 1A TNFSF11 tumor necrosis factor (ligand) superfamily, member TNFSF12 tumor necrosis factor (ligand) superfamily, member TNFSF4 tumor necrosis factor (ligand) superfamily, member TNNC1 troponin C type 1 (slow) TNNI2 troponin I type 2 (skeletal, fast) TNNI3 troponin I type 3 (cardiac) TNNT1 troponin T type 1 (skeletal, slow) TNNT2 troponin T type 2 (cardiac) TNNT3 troponin T type 3 (skeletal, fast) TNPO2 transportin TNXB tenascin XB TOP2A topoisomerase (DNA) II alpha 170kDa TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 2867 TOR1A torsin family 1, member A (torsin A) TP53 tumor protein p TP63 tumor protein p TPBG trophoblast glycoprotein TPI1 triosephosphate isomerase TPK1 thiamin pyrophosphokinase TPM1 tropomyosin 1 (alpha) TPM2 tropomyosin 2 (beta) TPM3 tropomyosin TPMT thiopurine S-methyltransferase TPO thyroid peroxidase TPP1 tripeptidyl peptidase I TPRN taperin TRAF3IP2 TRAF3 interacting protein TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase TRAPPC11 trafficking protein particle complex TRAPPC2 trafficking protein particle complex 2 X TRAPPC9 trafficking protein particle complex TRDN triadin TREH trehalase (brush-border membrane glycoprotein) TREM2 triggering receptor expressed on myeloid cells TREX1 three prime repair exonuclease TRH thyrotropin-releasing hormone TRHR thyrotropin-releasing hormone receptor TRIM2 tripartite motif containing TRIM24 tripartite motif containing TRIM32 tripartite motif containing TRIM33 tripartite motif containing TRIM37 tripartite motif containing TRIO trio Rho guanine nucleotide exchange factor TRIOBP TRIO and F-actin binding protein TRIP11 thyroid hormone receptor interactor TRMT1 trna methyltransferase 1 homolog (S. cerevisiae) TRMU trna 5-methylaminomethyl-2-thiouridylate methyltransferase TRPA1 transient receptor potential cation channel, subfamily A, member

57 2902 TRPC6 transient receptor potential cation channel, subfamily C, member TRPM1 transient receptor potential cation channel, subfamily M, member TRPM4 transient receptor potential cation channel, subfamily M, member TRPM6 transient receptor potential cation channel, subfamily M, member TRPS1 trichorhinophalangeal syndrome I TRPV3 transient receptor potential cation channel, subfamily V, member TRPV4 transient receptor potential cation channel, subfamily V, member TSC1 tuberous sclerosis TSC2 tuberous sclerosis TSEN2 TSEN2 trna splicing endonuclease subunit TSEN34 TSEN34 trna splicing endonuclease subunit TSEN54 TSEN54 trna splicing endonuclease subunit TSFM Ts translation elongation factor, mitochondrial TSG101 tumor susceptibility TSHB thyroid stimulating hormone, beta TSHR thyroid stimulating hormone receptor TSHZ1 teashirt zinc finger homeobox TSPAN12 tetraspanin TSPAN7 tetraspanin 7 X TSPEAR thrombospondin-type laminin G domain and EAR repeats TSPYL1 TSPY-like TST thiosulfate sulfurtransferase (rhodanese) TTBK2 tau tubulin kinase TTC19 tetratricopeptide repeat domain TTC21B tetratricopeptide repeat domain 21B TTC37 tetratricopeptide repeat domain TTC8 tetratricopeptide repeat domain TTI2 TELO2 interacting protein TTN titin TTPA tocopherol (alpha) transfer protein TTR transthyretin TUBA1A tubulin, alpha 1a TUBA8 tubulin, alpha TUBB1 tubulin, beta 1 class VI TUBB2B tubulin, beta 2B class IIb TUBB3 tubulin, beta 3 class III TUBB4A tubulin, beta 4A class IVa TUBG1 tubulin, gamma TUBGCP6 tubulin, gamma complex associated protein TUFM Tu translation elongation factor, mitochondrial TULP1 tubby like protein TUSC3 tumor suppressor candidate TWIST1 twist family bhlh transcription factor TWIST2 twist family bhlh transcription factor TWIST2 twist family bhlh transcription factor TXNRD2 thioredoxin reductase TYK2 tyrosine kinase TYMP thymidine phosphorylase TYR tyrosinase TYROBP TYRO protein tyrosine kinase binding protein

58 2952 TYRP1 tyrosinase-related protein UBA1 ubiquitin-like modifier activating enzyme 1 X UBB ubiquitin B UBE2A ubiquitin-conjugating enzyme E2A X UBE3A ubiquitin protein ligase E3A UBE3B ubiquitin protein ligase E3B UBIAD1 UbiA prenyltransferase domain containing UBQLN2 ubiquilin 2 X UBR1 ubiquitin protein ligase E3 component n-recognin UBR7 ubiquitin protein ligase E3 component n-recognin 7 (putative) UFD1L ubiquitin fusion degradation 1 like (yeast) UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A UMOD uromodulin UMPS uridine monophosphate synthetase UNC119 unc-119 homolog (C. elegans) UNC13D unc-13 homolog D (C. elegans) UNC93B1 unc-93 homolog B1 (C. elegans) UNG uracil-dna glycosylase UPB1 ureidopropionase, beta UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast) X UPK3A uroplakin 3A UQCRB ubiquinol-cytochrome c reductase binding protein UQCRC2 ubiquinol-cytochrome c reductase core protein II UQCRQ ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa UROC1 urocanate hydratase UROD uroporphyrinogen decarboxylase UROS uroporphyrinogen III synthase USB1 U6 snrna biogenesis USH1C Usher syndrome 1C (autosomal recessive, severe) USH1G Usher syndrome 1G (autosomal recessive) USH2A Usher syndrome 2A (autosomal recessive, mild) USP9Y ubiquitin specific peptidase 9, Y-linked Y UVSSA UV-stimulated scaffold protein A VANGL1 VANGL planar cell polarity protein VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C 2987 VAX1 ventral anterior homeobox VCAN versican VCL vinculin VCP valosin containing protein VDR vitamin D (1,25- dihydroxyvitamin D3) receptor VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase VIM vimentin VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog 2995 VKORC1 vitamin K epoxide reductase complex, subunit VLDLR very low density lipoprotein receptor VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae) VPS13B vacuolar protein sorting 13 homolog B (yeast) VPS33B vacuolar protein sorting 33 homolog B (yeast) VPS35 vacuolar protein sorting 35 homolog (S. cerevisiae) VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae) VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae) VRK1 vaccinia related kinase VSX1 visual system homeobox

59 3005 VSX2 visual system homeobox VTI1A vesicle transport through interaction with t-snares 1A VWF von Willebrand factor WAC WW domain containing adaptor with coiled-coil WAS Wiskott-Aldrich syndrome X WDPCP WD repeat containing planar cell polarity effector WDR11 WD repeat domain WDR19 WD repeat domain WDR35 WD repeat domain WDR36 WD repeat domain WDR45 WD repeat domain 45 X WDR45B WD repeat domain 45B WDR60 WD repeat domain WDR62 WD repeat domain WDR72 WD repeat domain WDR81 WD repeat domain WFS1 Wolfram syndrome 1 (wolframin) WHSC1 Wolf-Hirschhorn syndrome candidate WHSC1L1 Wolf-Hirschhorn syndrome candidate 1-like WIPF1 WAS/WASL interacting protein family, member WISP3 WNT1 inducible signaling pathway protein WNK1 WNK lysine deficient protein kinase WNK4 WNK lysine deficient protein kinase WNT1 wingless-type MMTV integration site family, member WNT10A wingless-type MMTV integration site family, member 10A WNT10B wingless-type MMTV integration site family, member 10B WNT3 wingless-type MMTV integration site family, member WNT3A wingless-type MMTV integration site family, member 3A WNT4 wingless-type MMTV integration site family, member WNT5A wingless-type MMTV integration site family, member 5A WNT7A wingless-type MMTV integration site family, member 7A WRAP53 WD repeat containing, antisense to TP WRN Werner syndrome, RecQ helicase-like WT1 Wilms tumor WWOX WW domain containing oxidoreductase XDH xanthine dehydrogenase XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase X XIST X inactive specific transcript (non-protein coding) X XK X-linked Kx blood group X XPA xeroderma pigmentosum, complementation group A XPC xeroderma pigmentosum, complementation group C XPNPEP3 X-prolyl aminopeptidase 3, mitochondrial YAP1 Yes-associated protein YARS tyrosyl-trna synthetase YARS2 tyrosyl-trna synthetase 2, mitochondrial ZAP70 zeta-chain (TCR) associated protein kinase 70kDa ZBTB16 zinc finger and BTB domain containing ZBTB18 zinc finger and BTB domain containing ZBTB24 zinc finger and BTB domain containing ZBTB40 zinc finger and BTB domain containing ZC4H2 zinc finger, C4H2 domain containing X ZCCHC12 zinc finger, CCHC domain containing 12 X ZCCHC8 zinc finger, CCHC domain containing ZDHHC15 zinc finger, DHHC-type containing 15 X ZDHHC9 zinc finger, DHHC-type containing 9 X ZEB1 zinc finger E-box binding homeobox

60 3061 ZEB2 zinc finger E-box binding homeobox ZFHX4 zinc finger homeobox ZFP57 ZFP57 zinc finger protein ZFPM2 zinc finger protein, FOG family member ZFX zinc finger protein, X-linked X ZFY zinc finger protein, Y-linked Y ZFYVE26 zinc finger, FYVE domain containing ZFYVE27 zinc finger, FYVE domain containing ZIC2 Zic family member ZIC3 Zic family member 3 X ZMPSTE24 zinc metallopeptidase STE ZMYM3 zinc finger, MYM-type 3 X ZMYM6 zinc finger, MYM-type ZMYND10 zinc finger, MYND-type containing ZNF141 zinc finger protein ZNF335 zinc finger protein ZNF33A zinc finger protein 33A ZNF35 zinc finger protein ZNF41 zinc finger protein 41 X ZNF423 zinc finger protein ZNF469 zinc finger protein ZNF513 zinc finger protein ZNF526 zinc finger protein ZNF592 zinc finger protein ZNF644 zinc finger protein ZNF674 zinc finger protein 674 X ZNF711 zinc finger protein 711 X ZNF750 zinc finger protein ZNF81 zinc finger protein 81 X