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