MULTIPLE CONGENITAL ANOMALIES GENE PANEL

Transcription

1 MULTIPLE CONGENITAL ANOMALIES GENE PANEL Gene Depth Coverage OMIM symbol (reads) (avg %) disease Description A4GALT NOR polyagglutination syndrome AAAS Achalasia-addisonianism-alacrimia syndrome AAGAB Keratoderma palmoplantar punctate type IA AARS Charcot-Marie-Tooth disease axonal type 2N AARS Combined oxidative phosphorylation deficiency 8 AASS Hyperlysinemia ABAT GABA-transaminase deficiency ABCA HDL deficiency type 2 ABCA Ichthyosis autosomal recessive 4B (harlequin) ABCA Surfactant metabolism dysfunction pulmonary 3 ABCA Cone-rod dystrophy 3 ABCB Cholestasis benign recurrent intrahepatic 2 ABCB Cholestasis intrahepatic of pregnancy 3 ABCB Microphthalmia isolated with coloboma 7 ABCB Anemia sideroblastic with ataxia ABCC Dubin-Johnson syndrome ABCC Arterial calcification generalized of infancy 2 ABCC Diabetes mellitus noninsulin-dependent ABCC Atrial fibrillation familial 12 ABCD Adrenoleukodystrophy ABCD Methylmalonic aciduria and homocystinuria cblj type ABCG Sitosterolemia ABCG Gallbladder disease 4 ABHD Polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract ABHD Chanarin-Dorfman syndrome ABL Leukemia Philadelphia chromosome-positive ACAD Isobutyryl-CoA dehydrogenase deficiency ACAD ACAD9 deficiency

2 ACADM Acyl-CoA dehydrogenase medium chain deficiency of ACADS Acyl-CoA dehydrogenase short-chain deficiency of ACADSB methylbutyrylglycinuria ACADVL VLCAD deficiency ACAN Osteochondritis dissecans short stature and early-onset osteoarthritis ACAT Alpha-methylacetoacetic aciduria ACE Renal tubular dysgenesis ACO Infantile cerebellar-retinal degeneration ACOX Peroxisomal acyl-coa oxidase deficiency ACP Spondyloenchondrodysplasia with immune dysregulation ACSF Combined malonic and methylmalonic aciduria ACSL Mental retardation X-linked 63 ACSL Myelodysplastic syndrome ACTA Myopathy actin congenital with cores ACTA Aortic aneurysm familial thoracic 6 ACTB Baraitser-Winter syndrome 1 ACTC Atrial septal defect 5 ACTG Baraitser-Winter syndrome 2 ACTN Bleeding disorder platelet-type 15 ACTN Cardiomyopathy dilated 1AA ACTN Glomerulosclerosis focal segmental 1 ACVR Fibrodysplasia ossificans progressiva ACVR1B Pancreatic cancer ACVR2B Heterotaxy visceral 4 autosomal ACVRL Telangiectasia hereditary hemorrhagic type 2 ACY Aminoacylase 1 deficiency ADA Adenosine deaminase deficiency partial ADAM Inflammatory skin and bowel disease neonatal ADAM Cone-rod dystrophy 9 ADAMTS Weill-Marchesani syndrome 1 recessive ADAMTS Thrombotic thrombocytopenic purpura familial ADAMTS Weill-Marchesani-like syndrome ADAMTS Knobloch syndrome 2

3 ADAMTS Ehlers-Danlos syndrome type VIIC ADAMTSL Geleophysic dysplasia 1 ADAMTSL Ectopia lentis isolated autosomal recessive ADAR Aicardi-Goutieres syndrome 6 ADAT Mental retardation autosomal recessive 36 ADCK ADCY Dyskinesia familial with facial myokymia ADIPOQ Adiponectin deficiency ADK Hypermethioninemia due to adenosine kinase deficiency ADRB Beta-2-adrenoreceptor agonist ADSL Adenylosuccinase deficiency AFF Mental retardation X-linked FRAXE type AFG3L Ataxia spastic 5 autosomal recessive AGA Aspartylglucosaminuria AGK Cataract 38 autosomal recessive AGL Glycogen storage disease IIIa AGPAT Lipodystrophy congenital generalized type 1 AGPS Rhizomelic chondrodysplasia punctata type 3 AGRN Myasthenia limb-girdle familial AGT Renal tubular dysgenesis AGTR Hypertension essential AGTR Mental retardation X-linked 88 AGXT Hyperoxaluria primary type 1 AHCY Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase AHI Joubert syndrome-3 AICDA Immunodeficiency with hyper-igm type 2 AIFM Combined oxidative phosphorylation deficiency 6 AIMP Leukodystrophy hypomyelinating 3 AIP Pituitary adenoma ACTH-secreting AIPL Cone-rod dystrophy AIRE Autoimmune polyendocrinopathy syndrome type I with or without reversible metaphyseal dysplasia AK Hemolytic anemia due to adenylate kinase deficiency AK Reticular dysgenesis

4 AKAP Long QT syndrome-11 AKR1C XY sex reversal 8 AKR1D Bile acid synthesis defect congenital 2 AKT Breast cancer somatic AKT Diabetes mellitus type II AKT Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome ALAD Porphyria acute hepatic ALAS Anemia sideroblastic X-linked ALB ALDH18A Cutis laxa autosomal recessive type IIIA ALDH1A Microphthalmia isolated 8 ALDH Alcohol sensitivity acute ALDH3A Sjogren-Larsson syndrome ALDH4A Hyperprolinemia type II ALDH5A Succinic semialdehyde dehydrogenase deficiency ALDH6A Methylmalonate semialdehyde dehydrogenase deficiency ALDH7A Epilepsy pyridoxine-dependent ALDOA Glycogen storage disease XII ALDOB Fructose intolerance ALG Congenital disorder of glycosylation type Ik ALG Congenital disorder of glycosylation type Ip ALG Congenital disorder of glycosylation type Ig ALG Congenital disorder of glycosylation type Is ALG Congenital disorder of glycosylation type Ii ALG Congenital disorder of glycosylation type Id ALG Congenital disorder of glycosylation type Ic ALG Congenital disorder of glycosylation type Ih ALG Congenital disorder of glycosylation type Il ALMS Alstrom syndrome ALOX12B Ichthyosis congenital autosomal recessive 2 ALOXE Ichthyosis congenital autosomal recessive 3 ALPL Hypophosphatasia adult ALS Amyotrophic lateral sclerosis 2 juvenile

5 ALX Frontonasal dysplasia 3 ALX Frontonasal dysplasia 1 ALX Frontonasal dysplasia 2 AMACR Alpha-methylacyl-CoA racemase deficiency AMELX Amelogenesis imperfecta hypoplastic/hypomaturation type 1E AMH Persistent Mullerian duct syndrome type I AMHR Persistent Mullerian duct syndrome type II AMN Megaloblastic anemia-1 Norwegian type AMPD AMT Glycine encephalopathy ANG Amyotrophic lateral sclerosis 9 ANGPTL Hypobetalipoproteinemia familial 2 ANK Spherocytosis type 1 ANK Cardiac arrhythmia ankyrin-b-related ANKH Chondrocalcinosis 2 ANKK Dopamine receptor D2 ANKRD KBG syndrome ANKRD Thrombocytopenia 2 ANO Spinocerebellar ataxia autosomal recessive 10 ANO Dystonia 24 ANO Gnathodiaphyseal dysplasia ANO Scott syndrome ANTXR Hyaline fibromatosis syndrome AP1S MEDNIK syndrome AP1S Mental retardation X-linked syndromic Fried type AP2S Hypocalciuric hypercalcemia familial type III AP3B Hermansky-Pudlak syndrome 2 AP4B Spastic paraplegia 47 autosomal recessive AP4E Spastic paraplegia 51 autosomal recessive AP4M Spastic paraplegia 50 autosomal recessive AP4S Spastic paraplegia 52 autosomal recessive AP5Z Spastic paraplegia 48 autosomal recessive APC Adenoma periampullary

6 APCDD Hypotrichosis simplex APOA Amyloidosis 3 or more types APOA APOA Hyperchylomicronemia late-onset APOB Hypercholesterolemia due to ligand-defective apo B APOC Hyperlipoproteinemia type Ib APOC Hyperalphalipoproteinemia 2 APOE Alzheimer disease-2 APP Alzheimer disease 1 familial APRT Adenine phosphoribosyltransferase deficiency APTX Ataxia early-onset with oculomotor apraxia and hypoalbuminemia AQP Diabetes insipidus nephrogenic AR Androgen insensitivity ARFGEF Periventricular heterotopia with microcephaly ARG Argininemia ARHGAP Leukemia juvenile myelomonocytic ARHGAP Adams-Oliver syndrome 1 ARHGEF Slowed nerve conduction velocity AD ARHGEF Leukemia acute myeloid ARHGEF Mental retardation X-linked 46 ARHGEF Epileptic encephalopathy early infantile 8 ARID1A Mental retardation autosomal dominant 14 ARID1B Mental retardation autosomal dominant 12 ARL13B Joubert syndrome 8 ARL Bardet-Biedl syndrome 3 ARNT Leukemia ARSA Metachromatic leukodystrophy ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy) ARSE Chondrodysplasia punctata X-linked recessive ARX Epileptic encephalopathy early infantile 1 ASAH Farber lipogranulomatosis ASB Glaucoma 1 open angle F ASCC Barrett esophagus/esophageal adenocarcinoma

7 ASCL Central hypoventilation syndrome congenital ASL Argininosuccinic aciduria ASPA Canavan disease ASPM Microcephaly 5 primary autosomal recessive ASPSCR Alveolar soft-part sarcoma ASS Citrullinemia ASXL Bohring-Opitz syndrome ATCAY Ataxia cerebellar Cayman type ATIC AICA-ribosiduria due to ATIC deficiency ATL Neuropathy hereditary sensory type ID ATM Ataxia-telangiectasia ATN Dentatorubro-pallidoluysian atrophy ATP13A Parkinson disease 9 ATP1A Alternating hemiplegia of childhood ATP1A Alternating hemiplegia of childhood 2 ATP2A Brody myopathy ATP2A Acrokeratosis verruciformis ATP2B Spinocerebellar ataxia X-linked 1 ATP2C Hailey-Hailey disease ATP5E Mitochondrial complex V (ATP synthase) deficiency nuclear type 3 ATP6AP Mental retardation X-linked with epilepsy ATP6V0A Cutis laxa autosomal recessive type IIA ATP6V0A Renal tubular acidosis distal autosomal recessive ATP6V1B ATP7A Menkes disease ATP7B Wilson disease ATP8B Cholestasis benign recurrent intrahepatic ATPAF Mitochondrial complex V (ATP synthase) deficiency nuclear type 1 ATR Cutaneous telangiectasia and cancer syndrome familial ATRX Alpha-thalassemia myelodysplasia syndrome somatic ATXN Spinocerebellar ataxia 1 ATXN Spinocerebellar ataxia 10 ATXN Spinocerebellar ataxia 2

8 ATXN Machado-Joseph disease ATXN Machado-Joseph disease ATXN Machado-Joseph disease ATXN Machado-Joseph disease ATXN Spinocerebellar ataxia 7 ATXN8OS Spinocerebellar ataxia 8 AUH methylglutaconic aciduria type I AVP Diabetes insipidus neurohypophyseal AVPR Diabetes insipidus nephrogenic AXIN Caudal duplication anomaly AXIN Colorectal cancer somatic B2M Hypoproteinemia hypercatabolic B3GALNT Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type A 11 B3GALT Ehlers-Danlos syndrome progeroid type 2 B3GALTL Peters-plus syndrome B3GAT Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects B3GNT Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 13 B4GALNT Spastic paraplegia 26 autosomal recessive B4GALT Congenital disorder of glycosylation type IId B4GALT Ehlers-Danlos syndrome progeroid type 1 B9D Meckel syndrome 9 B9D Meckel syndrome 10 BAAT Hypercholanemia familial BAG Cardiomyopathy dilated 1HH BANF Nestor-Guillermo progeria syndrome BAP Tumor predisposition syndrome BAX T-cell acute lymphoblastic leukemia BBS Bardet-Biedl syndrome 1 BBS Bardet-Biedl syndrome 10 BBS Bardet-Biedl syndrome 12 BBS Bardet-Biedl syndrome 2 BBS Bardet-Biedl syndrome 4 BBS Bardet-Biedl syndrome 5

9 BBS Bardet-Biedl syndrome 7 BBS Bardet-Biedl syndrome 9 BCHE Apnea BCKDHA Maple syrup urine disease type Ia BCKDHB Maple syrup urine disease type Ib BCKDK Branched-chain ketoacid dehydrogenase kinase deficiency BCL Lymphoma MALT somatic BCL Leukemia/lymphoma B-cell BCL7A B-cell non-hodgkin lymphoma BCMO Hypercarotenemia and vitamin A deficiency autosomal dominant BCOR Microphthalmia syndromic 2 BCR Leukemia acute lymphocytic BCS1L Bjornstad syndrome BDNF Central hypoventilation syndrome congenital BEST Best macular dystrophy BFSP Cataract 33 BFSP Cataract 12 multiple types BICD Spinal muscular atrophy lower extremity-predominant 2 AD BIN Myopathy centronuclear autosomal recessive BLK Maturity-onset diabetes of the young type 11 BLM Bloom syndrome BLNK Agammaglobulinemia 4 BLOC1S Hermansky-Pudlak syndrome 8 BLOC1S Hermansky-pudlak syndrome 9 BLVRA Hyperbiliverdinemia BMP Osteogenesis imperfecta type XIII BMP Ovarian dysgenesis 2 BMP Brachydactyly type A2 BMP Microphthalmia syndromic 6 BMPER Diaphanospondylodysostosis BMPR1A Juvenile polyposis syndrome infantile form BMPR1B Brachydactyly type A2 BMPR Pulmonary hypertension familial primary 1 with or without HHT

10 BOLA Multiple mitochondrial dysfunctions syndrome 2 BPGM Erythrocytosis due to bisphosphoglycerate mutase deficiency BRAF Adenocarcinoma of lung somatic BRAT Rigidity and multifocal seizure syndrome lethal neonatal BRCA Fanconi anemia complementation group D1 BRIP Breast cancer early-onset BRWD Mental retardation X-linked 93 BSCL Lipodystrophy congenital generalized type 2 BSND Bartter syndrome type 4a BTD Biotinidase deficiency BTK Agammaglobulinemia and isolated hormone deficiency BUB Colorectal cancer with chromosomal instability BUB1B Colorectal cancer somatic C10orf Albinism oculocutaneous type V C10orf Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) C12orf Temtamy syndrome C12orf Combined oxidative phosphorylation deficiency 7 C19orf Neurodegeneration with brain iron accumulation 4 C1GALT1C Tn polyagglutination syndrome somatic C1QA C1q deficiency C1QB C1q deficiency C1QC C1q deficiency C1QTNF Retinal degeneration late-onset autosomal dominant C1S C1s deficiency C C2 deficiency C2orf Retinitis pigmentosa 54 C C3 deficiency C4B C4B deficiency C4orf Amelogenesis imperfecta hypomaturation type IIA4 C C5 deficiency C5orf Joubert syndrome 17 C C6 deficiency C C7 deficiency

11 C8A C8 deficiency type I C8B C8 deficiency type II C8orf Cone-rod dystrophy 16 C C9 deficiency with dermatomyositis C9orf Amyotrophic lateral sclerosis and/or frontotemporal dementia CA Hyperchlorhidrosis isolated CA Osteopetrosis autosomal recessive 3 with renal tubular acidosis CA Retinitis pigmentosa 17 CA Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 CABP Deafness autosomal recessive 93 CABP Night blindness congenital stationary (incomplete) 2B autosomal recessive CACNA1A Episodic ataxia type 2 CACNA1C Brugada syndrome 3 CACNA1C Brugada syndrome 3 CACNA1C Brugada syndrome 3 CACNA1D Sinoatrial node dysfunction and deafness CACNA1F Aland Island eye disease CACNA1S Hypokalemic periodic paralysis type 1 CACNA2D Retinal cone dystrophy 4 CACNB Brugada syndrome 4 CACNB Episodic ataxia type 5 CACNG Mental retardation autosomal dominant 10 CALM Ventricular tachycardia catecholaminergic polymorphic 4 CALR Cardiomyopathy familial hypertrophic 19 CAMTA Cerebellar ataxia nonprogressive with mental retardation CANT Desbuquois dysplasia CAPN Muscular dystrophy limb-girdle type 2A CARD Persistent polyclonal B-cell lymphocytosis (3) Immunodeficiency primary autosomal recessive CARD related CARD Pityriasis rubra pilaris CARD Candidiasis familial 2 autosomal recessive CASC Microcephaly 4 primary autosomal recessive CASK FG syndrome 4

12 CASP Autoimmune lymphoproliferative syndrome type II CASP Hepatocellular carcinoma somatic CASQ Ventricular tachycardia catecholaminergic polymorphic 2 CASR Hyperparathyroidism neonatal CAT Acatalasemia CATSPER Spermatogenic failure 7 CAV Lipodystrophy congenital generalized type 3 CAV Cardiomyopathy familial hypertrophic CBL Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia CBS Homocystinuria B6-responsive and nonresponsive types CBX XY sex reversal 5 CC2D1A Mental retardation autosomal recessive 3 CC2D2A COACH syndrome CCBE Hennekam lymphangiectasia-lymphedema syndrome CCDC Ciliary dyskinesia primary 17 CCDC Heterotaxy visceral 6 autosomal recessive CCDC Ciliary dyskinesia primary 20 CCDC Ciliary dyskinesia primary 14 CCDC Ciliary dyskinesia primary 15 CCDC Deafness autosomal dominant 44 CCDC Myopathy centronuclear 4 CCDC Three M syndrome 3 CCDC88C Hydrocephalus nonsyndromic autosomal recessive CCT Neuropathy hereditary sensory with spastic paraplegia CD Nephropathy with pretibial epidermolysis bullosa and deafness CD Immunodeficiency common variable 3 CD Immunodeficiency due to defect in CD3-zeta CD Lymphoproliferative syndrome 2 CD2AP Glomerulosclerosis focal segmental 3 CD Methylmalonic aciduria due to transcobalamin receptor defect CD Platelet glycoprotein IV deficiency CD3D Severe combined immunodeficiency T cell-negative B-cell/natural killer-cell positive CD3E

13 CD3G CD OKT4 epitope deficiency CD Immunodeficiency with hyper-igm type 3 CD40LG Immunodeficiency, X-linked, with hyper-igm CD CD59 deficiency CD79A Agammaglobulinemia 3 CD79B Agammaglobulinemia 6 CD Immunodeficiency common variable 6 CD8A CD8 deficiency familial CD C syndrome CDAN Anemia congenital dyserythropoietic type I CDC Meier-Gorlin syndrome 5 CDC Hyperparathyroidism familial primary CDH Endometrial carcinoma somatic CDH Mental retardation autosomal dominant 3 CDH Deafness autosomal recessive 12 CDH Ectodermal dysplasia ectrodactyly and macular dystrophy CDHR Cone-rod dystrophy 15 CDK5RAP Microcephaly 3 primary autosomal recessive CDKL Angelman syndrome-like CDKN1B Multiple endocrine neoplasia type IV CDKN1C Beckwith-Wiedemann syndrome CDKN2A Melanoma and neural system tumor syndrome CDON Holoprosencephaly 11 CDSN Hypotrichosis simplex of scalp 1 CDT Meier-Gorlin syndrome 4 CEACAM Deafness autosomal dominant 4B CEBPA Leukemia acute myeloid CEBPE Specific granule deficiency CEL Maturity-onset diabetes of the young type VIII CENPJ Microcephaly 6 primary autosomal recessive CEP Microcephaly 8 primary autosomal recessive CEP Microcephaly 9 primary autosomal recessive

14 CEP Nephronophthisis 15 CEP Bardet-Biedl syndrome 14 CEP Joubert syndrome 15 CEP Mosaic variegated aneuploidy syndrome 2 CEP Seckel syndrome 6 CERKL Retinitis pigmentosa 26 CERS Ichthyosis congenital autosomal recessive 9 CES CETP Hyperalphalipoproteinemia CFD Complement factor D deficiency CFH Complement factor H deficiency CFHR Nephropathy due to CFHR5 deficiency CFI Complement factor I deficiency CFL Nemaline myopathy 7 autosomal recessive CFP Properdin deficiency, X-linked CFTR Congenital bilateral absence of vas deferens CHAT Myasthenic syndrome congenital associated with episodic apnea CHD CHARGE syndrome CHEK Li-Fraumeni syndrome CHKB Muscular dystrophy congenital megaconial type CHM Choroideremia CHMP1A Pontocerebellar hypoplasia type 8 CHMP2B Amyotrophic lateral sclerosis 17 CHMP4B Cataract 31 multiple types CHN Duane retraction syndrome 2 CHRDL Megalocornea 1 CHRM Eagle-Barrett syndrome CHRNA Multiple pterygium syndrome lethal type CHRNA Epilepsy nocturnal frontal lobe type 4 CHRNA Epilepsy nocturnal frontal lobe 1 CHRNB Myasthenic syndrome congenital associated with acetylcholine receptor deficiency CHRNB Epilepsy nocturnal frontal lobe 3 CHRND Multiple pterygium syndrome lethal type

15 CHRNE Myasthenic syndrome congenital associated with acetylcholine receptor deficiency CHRNG Escobar syndrome CHST Ehlers-Danlos syndrome musculocontractural type CHST Spondyloepiphyseal dysplasia with congenital joint dislocations CHST Macular corneal dystrophy CHSY Temtamy preaxial brachydactyly syndrome CHUK Cocoon syndrome CIB Deafness autosomal recessive 48 CIITA Bare lymphocyte syndrome, type II, complementation group A CIITA {Rheumatoid arthritis, susceptibility to} CIRH1A Cirrhosis North American Indian childhood type CISD Wolfram syndrome 2 CITED Atrial septal defect 8 CLCF Cold-induced sweating syndrome 1 CLCN Myotonia congenita dominant CLCN Dent disease CLCN Osteopetrosis autosomal dominant 2 CLCNKA Bartter syndrome type 4b digenic CLCNKB Bartter syndrome type 3 CLDN Ichthyosis leukocyte vacuoles alopecia and sclerosing cholangitis CLDN Deafness autosomal recessive 29 CLDN Hypomagnesemia 3 renal CLDN Hypomagnesemia 5 renal with ocular involvement CLEC7A Candidiasis familial 4 autosomal recessive CLIC Mental retardation X-linked syndromic 32 CLMP Congenital short bowel syndrome CLN Ceroid lipofuscinosis neuronal 3 CLN Ceroid lipofuscinosis neuronal 5 CLN Ceroid lipofuscinosis neuronal 6 CLN Ceroid lipofuscinosis neuronal 8 CLPP Perrault syndrome 3 CLRN Retinitis pigmentosa 61 CNGA Retinitis pigmentosa 49

16 CNGA Achromatopsia-2 CNGB Retinitis pigmentosa 45 CNGB Achromatopsia-3 CNNM Hypomagnesemia 6 renal CNNM Jalili syndrome CNTN Myopathy congenital Compton-North CNTNAP Cortical dysplasia-focal epilepsy syndrome COA Mitochondrial complex IV deficiency COCH Deafness autosomal dominant 9 COG Congenital disorder of glycosylation type IIg COG Congenital disorder of glycosylation type IIj COG Congenital disorder of glycosylation type IIi COG Shaheen syndrome COG Congenital disorder of glycosylation type IIe COG Congenital disorder of glycosylation type IIh COL10A Metaphyseal chondrodysplasia Schmid type COL11A Fibrochondrogenesis COL11A Deafness autosomal dominant 13 COL17A Epidermolysis bullosa junctional non-herlitz type COL18A Knobloch syndrome type 1 COL1A Caffey disease COL1A Ehlers-Danlos syndrome cardiac valvular form COL2A Achondrogenesis type II or hypochondrogenesis COL3A Ehlers-Danlos syndrome type III COL4A Angiopathy hereditary with nephropathy aneurysms and muscle COL4A Porencephaly 2 COL4A Alport syndrome autosomal dominant COL4A Alport syndrome autosomal recessive COL4A Alport syndrome COL5A Ehlers-Danlos syndrome type I COL5A Ehlers-Danlos syndrome type I COL6A Bethlem myopathy COL6A Bethlem myopathy

17 COL6A Bethlem myopathy COL7A EBD inversa COL8A Corneal dystrophy polymorphous posterior 2 COL9A Epiphyseal dysplasia multiple 6 COL9A Epiphyseal dysplasia multiple 2 COL9A Epiphyseal dysplasia multiple 3 COLEC MC syndrome 2 COLQ Endplate acetylcholinesterase deficiency COMP Epiphyseal dysplasia multiple 1 COQ Coenzyme Q10 deficiency primary 1 COQ Coenzyme Q10 deficiency primary 6 COQ Coenzyme Q10 deficiency primary 5 CORIN Preeclampsia/eclampsia 5 COX Encephalopathy progressive mitochondrial COX Mitochondrial complex IV deficiency COX Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency 2 COX4I Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis COX6B Cytochrome c oxidase deficiency COX7B Aplasia cutis congenita reticulolinear with mmicrocephaly facial dysmorphism and other congenital anomalies CP Cerebellar ataxia CPA Epilepsy familial temporal lobe 5 CPN Carboxypeptidase N deficiency CPOX Coproporphyria CPS Carbamoylphosphate synthetase I deficiency CPT1A CPT deficiency hepatic type IA CPT CPT deficiency hepatic type II CR Immunodeficiency common variable 7 CRADD Mental retardation autosomal recessive 34 CRB Leber congenital amaurosis 8 CRBN Mental retardation autosomal recessive 2 CREB Histiocytoma angiomatoid fibrous somatic CREBBP Rubinstein-Taybi syndrome CRELD Atrioventricular septal defect partial with heterotaxy syndrome

18 CRLF Cold-induced sweating syndrome CRTAP Osteogenesis imperfecta type VII CRTC Mucoepidermoid salivary gland carcinoma CRX Cone-rod retinal dystrophy-2 CRYAA Cataract 9 multiple types CRYAB Cardiomyopathy dilated 1II CRYBA Cataract 10 multiple types CRYBA Cataract 23 CRYBB Cataract 17 multiple types CRYBB Cataract 3 multiple types CRYBB Cataract 22 autosomal recessive CRYGB Cataract 39 multiple types CRYGC Cataract 2 multiple types CRYGD Cataract 4 multiple types CRYGS Cataract 20 multiple types CRYM Deafness CSF1R Leukoencephalopathy diffuse hereditary with spheroids CSF2RB Surfactant metabolism dysfunction pulmonary 5 CSF3R Neutrophilia hereditary CSNK1D Advanced sleep-phase syndrome familial 2 CSRP Cardiomyopathy dilated 1M CST Cerebral amyloid angiopathy CSTA Exfoliative ichthyosis autosomal recessive ichthyosis bullosa of Siemens-like CSTB Epilepsy progressive myoclonic 1A (Unverricht and Lundborg) CTC Cerebroretinal microangiopathy with calcifications and cysts CTDP Congenital cataracts facial dysmorphism and neuropathy CTH Cystathioninuria CTHRC Barrett esophagus/esophageal adenocarcinoma CTNNB Colorectal cancer somatic CTNS Cystinosis atypical nephropathic CTSA Galactosialidosis CTSC Haim-Munk syndrome CTSD Ceroid lipofuscinosis neuronal 10

19 CTSK Pycnodysostosis CUBN Megaloblastic anemia-1 Finnish type CUL Pseudohypoaldosteronism type IIE CUL4B Mental retardation X-linked syndromic 15 (Cabezas type) CUL M syndrome 1 CXCR Myelokathexis CYB5A Methemoglobinemia type IV CYB5R Methemoglobinemia type I CYBA Chronic granulomatous disease autosomal due to deficiency of CYBA CYBB Atypical mycobacteriosis familial X-linked 2 CYCS Thrombocytopenia 4 CYLD Brooke-Spiegler syndrome CYP11A CYP11B Adrenal hyperplasia congenital due to 11-beta-hydroxylase deficiency CYP11B CYP17A lyase deficiency isolated CYP19A Aromatase deficiency CYP1B Glaucoma 3A primary open angle congenital juvenile or adult onset CYP21A Adrenal hyperplasia congenital due to 21-hydroxylase deficiency CYP24A Hypercalcemia infantile CYP26B Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies CYP26C Focal facial dermal dysplasia 4 CYP27A Cerebrotendinous xanthomatosis CYP27B Vitamin D-dependent rickets type I CYP2A Coumarin resistance CYP2B Efavirenz poor metabolism of CYP2C Rhabdomyolysis CYP2C CYP2R Rickets due to defect in vitamin D 25-hydroxylation CYP2U Spastic paraplegia 56 autosomal recessive CYP4F Ichthyosis congenital autosomal recessive 5 CYP4V Bietti crystalline corneoretinal dystrophy CYP7B Bile acid synthesis defect congenital 3

20 D2HGDH D-2-hydroxyglutaric aciduria DAG Muscular dystrophy-dystroglycanopathy (limb-girdle) type C 9 DARS Hypomyelination with brainstem and spinal cord involvement and leg spasticity DARS Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation DBH Dopamine beta-hydroxylase deficiency DBT Maple syrup urine disease type II DCAF Woodhouse-Sakati syndrome DCC Colorectal cancer somatic DCLRE1C Omenn syndrome DCN Corneal dystrophy congenital stromal DCTN Neuropathy distal hereditary motor type VIIB DCX Lissencephaly X-linked DDB Xeroderma pigmentosum group E DDB-negative subtype DDC Aromatic L-amino acid decarboxylase deficiency DDHD Spastic paraplegia 28 autosomal recessive DDHD Spastic paraplegia 54 autosomal recessive DDOST Congenital disorder of glycosylation type Ir DDR Spondylometaepiphyseal dysplasia short limb-hand type DDX Warsaw breakage syndrome DEPDC Epilepsy familial focal with variable foci DES Cardiomyopathy dilated 1I DFNA Deafness autosomal dominant 5 DFNB Usher syndrome, type 2D DGKE Nephrotic syndrome type 7 DGUOK Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) DHCR Desmosterolosis DHCR Smith-Lemli-Opitz syndrome DHDDS Retinitis pigmentosa 59 DHFR Megaloblastic anemia due to dihydrofolate reductase deficiency DHH XY partial gonadal dysgenesis with minifascicular neuropathy DHODH Miller syndrome DHTKD aminoadipic 2-oxoadipic aciduria DIAPH Deafness autosomal dominant 1

21 DIAPH Premature ovarian failure DIAPH Auditory neuropathy autosomal dominant 1 DICER Goiter multinodular 1 with or without Sertoli-Leydig cell tumors DIP2B Mental retardation FRA12A type DIS3L Perlman syndrome DKC Dyskeratosis congenita X-linked DLAT Pyruvate dehydrogenase E2 deficiency DLC Colorectal cancer DLD Dihydrolipoamide dehydrogenase deficiency DLG Mental retardation X-linked 90 DLL Spondylocostal dysostosis autosomal recessive 1 DLX Amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism DLX Split-hand/foot malformation 1 with sensorineural hearing loss DMD Becker muscular dystrophy DMGDH Dimethylglycine dehydrogenase deficiency DMP Hypophosphatemic rickets AR DMPK Myotonic dystrophy 1 DNA Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant 6 DNAAF Ciliary dyskinesia primary 2 DNAH Ciliary dyskinesia primary 7 with or without situs inversus DNAH Ciliary dyskinesia primary 3 with or without situs inversus DNAI Ciliary dyskinesia primary 1 with or without situs inversus DNAI Ciliary dyskinesia primary 9 with or without situs inversus DNAJB Spinal muscular atrophy distal autosomal recessive 5 DNAJB Muscular dystrophy limb-girdle type 1E DNAJC methylglutaconic aciduria type V DNAJC Ceroid lipofuscinosis neuronal 4 Parry type DNAL Ciliary dyskinesia primary 16 DNASE1L Systemic lupus erythematosus 16 DNM1L Encephalopahty lethal due to defective mitochondrial peroxisomal fission DNM Charcot-Marie-Tooth disease axonal type 2M DNMT Cerebellar ataxia deafness and narcolepsy autosomal dominant DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1

22 DOCK Adams-Oliver syndrome 2 DOCK Hyper-IgE recurrent infection syndrome autosomal recessive DOK Fetal akinesia deformation sequence DOLK DPAGT Congenital disorder of glycosylation type Ij DPM Congenital disorder of glycosylation type Ie DPM Congenital disorder of glycosylation type Iu DPM Congenital disorder of glycosylation type Io DPP Ventricular fibrillation paroxysmal familial 2 DPY19L Spermatogenic failure 9 DPYD fluorouracil toxicity DPYS Dihydropyrimidinuria DRC Ciliary dyskinesia primary 21 DRD Dystonia myoclonic DRD Autonomic nervous system dysfunction DRD Dystonia DSC Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair DSC Hypotrichosis and recurrent skin vesicles DSG Keratosis palmoplantaris striata I DSG Arrhythmogenic right ventricular dysplasia 10 DSG Hypotrichosis localized autosomal recessive DSP Arrhythmogenic right ventricular dysplasia 8 DSPP Deafness autosomal dominant 36 with dentinogenesis DST Neuropathy hereditary sensory and autonomic type VI DTNA Left ventricular noncompaction 1 with or without congenital heart defects DTNBP Hermansky-Pudlak syndrome 7 DUOX Thryoid dyshormonogenesis 6 DUOXA Thyroid dyshormonogenesis 5 DUSP Hypogonadotropic hypogonadism 19 with or without anosmia DYM Dyggve-Melchior-Clausen disease DYNC1H Charcot-Marie-Tooth disease axonal type 20 DYNC2H Asphyxiating thoracic dystrophy 3 DYRK1A Mental retardation autosomal dominant 7

23 DYSF Miyoshi muscular dystrophy 1 EARS Combined oxidative phosphorylation deficiency 12 EBP Chondrodysplasia punctata X-linked dominant ECE Hirschsprung disease cardiac defects and autonomic dysfunction ECEL Arthrogryposis distal type 5D ECM Urbach-Wiethe disease EDAR Ectodermal dysplasia 10A hypohidrotic/hair/nail type autosomal dominant EDARADD Ectodermal dysplasia 11A hypohidrotic/hair/tooth type EDN Central hypoventilation syndrome congenital EDNRA Migraine resistance to EDNRB ABCD syndrome EFEMP Doyne honeycomb degeneration of retina EFEMP Cutis laxa autosomal recessive type IB EFNB Craniofrontonasal dysplasia EFTUD Mandibulofacial dysostosis Guion-Almeida type EGF Hypomagnesemia 4 renal EGFR Adenocarcinoma of lung response to tyrosine kinase inhibitor in EGLN Erythrocytosis familial 3 EGR Charcot-Marie-Tooth disease type 1D EHMT Kleefstra syndrome EIF2AK Wolcott-Rallison syndrome EIF2B Leukoencephalopathy with vanishing white matter EIF2B Leukoencephalopathy with vanishing white matter EIF2B Leukoencephalopathy with vanishing white matter EIF2B Leukoencephaly with vanishing white matter EIF2B Leukoencephalopathy with vanishing white matter EIF4G Parkinson disease 18 ELANE Neutropenia cyclic ELN Cutis laxa AD ELOVL Ichthyosis spastic quadriplegia and mental retardation EMD Emery-Dreifuss muscular dystrophy 1 X-linked EMG Bowen-Conradi syndrome EMX Schizencephaly

24 ENAM Amelogenesis imperfecta type IB ENG Telangiectasia hereditary hemorrhagic type 1 ENO Glycogen storage disease XIII ENPP Arterial calcification generalized of infancy 1 EOGT Adams-Oliver syndrome 4 EP Colorectal cancer somatic EPAS Erythrocytosis familial 4 EPB Elliptocytosis-1 EPB41L Mental retardation autosomal dominant 11 EPB Spherocytosis hereditary type 5 EPCAM Colorectal cancer hereditary nonpolyposis type 8 EPG Vici syndrome EPHA Cataract 6 multiple types EPHB Prostate cancer progression and metastasis of EPHX Hypercholanemia familial EPM2A Epilepsy progressive myoclonic 2A (Lafora) EPX Eosinophil peroxidase deficiency ERBB Adenocarcinoma of lung somatic ERBB Lethal congenital contractural syndrome 2 ERCC Cerebrooculofacioskeletal syndrome 4 ERCC Cerebrooculofacioskeletal syndrome 2 ERCC Trichothiodystrophy ERCC Fanconi anemia complementation group Q ERCC Xeroderma pigmentosum group G ERCC Cerebrooculofacioskeletal syndrome 1 ERCC Cockayne syndrome type A ERF Craniosynostosis 4 ERLIN Spastic paraplegia 18 autosomal recessive ESCO Roberts syndrome ESPN Deafness autosomal recessive 36 ESR ESRRB Deafness autosomal recessive 35 ETFA Glutaric acidemia IIA

25 ETFB Glutaric acidemia IIB ETFDH Glutaric acidemia IIC ETHE Ethylmalonic encephalopathy ETV Leukemia acute myeloid somatic EVC Ellis-van Creveld syndrome EWSR Ewing sarcoma EXOSC Pontocerebellar hypoplasia type 1B EXPH Epidermolysis bullosa nonspecific autosomal recessive EXT Chondrosarcoma EXT Exostoses multiple type 2 EYA Anterior segment anomalies with or without cataract EYA Cardiomyopathy dilated 1J EYS Retinitis pigmentosa 25 EZH Weaver syndrome F Factor X deficiency F Factor XI deficiency autosomal dominant F Angioedema hereditary type III F13A Factor XIIIA deficiency F13B Factor XIIIB deficiency F Dysprothrombinemia F Factor V deficiency F Factor VII deficiency F Hemophilia A F Hemophilia B FA2H Spastic paraplegia 35 autosomal recessive FADD Infections recurrent with encephalopathy hepatic dysfunction and cardiovasuclar malformations FAH Tyrosinemia type I FAM111A Gracile bone dysplasia FAM126A Leukodystrophy hypomyelinating 5 FAM134B Neuropathy hereditary sensory and autonomic type IIB FAM161A Retinitis pigmentosa 28 FAM20A Amelogenesis imperfecta and gingival fibromatosis syndrome FAM20C Raine syndrome

26 FAM58A STAR syndrome FAM83H Amelogenesis imperfecta type 3 FAN Interstitial nephritis karyomegalic FANCA Fanconi anemia complementation group A FANCB FANCC Fanconi anemia complementation group C FANCD Fanconi anemia complementation group D2 FANCE Fanconi anemia complementation group E FANCF Fanconi anemia complementation group F FANCG FANCI Fanconi anemia complementation group I FANCL FANCM Fanconi anemia complementation group M FARS Combined oxidative phosphorylation deficiency 14 FAS Autoimmune lymphoproliferative syndrome, type IA FASLG {Lung cancer, susceptibility to} FASLG Autoimmune lymphoproliferative syndrome, type IB FASTKD Mitochondrial complex IV deficiency FBLN Synpolydactyly 3/34 associated with metacarpal and metatarsal synostoses FBLN Cutis laxa autosomal dominant 2 FBN Acromicric dysplasia FBN Contractural arachnodactyly congenital FBP Fructose-16-bidphosphatase deficiency FBXO Parkinson disease 15 autosomal recessive FCGR3B Neutropenia FCN Immunodeficiency due to ficolin 3 deficiency FECH Protoporphyria erythropoietic autosomal recessive FERMT Leukocyte adhesion deficiency, type III FGA Afibrinogenemia congenital FGB Afibrinogenemia congenital FGD Aarskog-Scott syndrome FGD Charcot-Marie-Tooth disease type 4H FGF Aplasia of lacrimal and salivary glands

27 FGF Spinocerebellar ataxia 27 FGF Hypogonadotropic hypogonadism 20 with or without anosmia FGF Hypophosphatemic rickets autosomal dominant FGF Deafness congenital with inner ear agenesis microtia and microdontia FGF Hypogonadotropic hypogonadism 6 with or without anosmia FGF Multiple synostoses syndrome 3 FGFR Hypogonadotropic hypogonadism 2 with or without anosmia FGFR Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis FGFR Achondroplasia FGG Dysfibrinogenemia FH Fumarase deficiency FHL Emery-Dreifuss muscular dystrophy 6 X-linked FIG Amyotrophic lateral sclerosis 11 FIGLA Premature ovarian failure 6 FKBP Osteogenesis imperfecta type XI FKBP Ehlers-Danlos syndrome with progressive kyphoscoliosis myopathy and hearing loss FKRP Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 5 FKTN Cardiomyopathy dilated 1X FLCN Birt-Hogg-Dube syndrome FLG Ichthyosis vulgaris FLNA Cardiac valvular dysplasia X-linked FLNB Atelosteogenesis type I FLNC Myopathy distal 4 FLRT Hypogonadotropic hypogonadism 21 with anosmia FLT Leukemia FLT Hemangioma capillary infantile somatic FLVCR Ataxia posterior column with retinitis pigmentosa FLVCR Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome FMO Trimethylaminuria FMR Fragile X syndrome FN Glomerulopathy with fibronectin deposits 2 FOLR Neurodegeneration due to cerebral folate transport deficiency FOXC Axenfeld-Rieger syndrome type 3

28 FOXC Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus FOXE Bamforth-Lazarus syndrome FOXE Anterior segment mesenchymal dysgenesis FOXF Alveolar capillary dysplasia with misalignment of pulmonary veins FOXG Rett syndrome congenital variant FOXI Enlarged vestibular aqueduct FOXL Blepharophimosis epicanthus inversus and ptosis type 1 FOXN T-cell immunodeficiency congenital alopecia and nail dystrophy FOXP Mental retardation with language impairment and autistic features FOXP Speech-language disorder-1 FOXP Immunodysregulation polyendocrinopathy and enteropathy X-linked FOXRED Leigh syndrome due to mitochondrial complex I deficiency FRAS Fraser syndrome FREM Bifid nose with or without anorectal and renal anomalies FREM Fraser syndrome FRMD Nystagmus 1 congenital X-linked FSCN Retinitis pigmentosa 30 FSHB Follicle-stimulating hormone deficiency isolated FSHR Ovarian dysgenesis 1 FTCD Glutamate formiminotransferase deficiency FTH Iron overload FTL Hyperferritinemia-cataract syndrome FTO Growth retardation developmental delay coarse facies and early death FTSJ Mental retardation X-linked 9 FUCA Fucosidosis FUS Amyotrophic lateral sclerosis 6 autosomal recessive with or without frontotemporal dementia FUT Fucosyltransferase 6 deficiency FUZ Neural tube defects FXN Friedreich ataxia with retained reflexes FXYD Hypomagnesemia-2 renal FYCO Cataract 18 autosomal recessive FZD Exudative vitreoretinopathy FZD Nail disorder nonsyndromic congenital 10 (claw-shaped nails)

29 G6PC Glycogen storage disease Ia G6PC Dursun syndrome G6PD Favism GAA Glycogen storage disease II GABRB GABRG Epilepsy generalized with febrile seizures plus type 3 GAD Cerebral palsy spastic quadriplegic 1 GALC Krabbe disease GALE Galactose epimerase deficiency GALK Galactokinase deficiency with cataracts GALNS Mucopolysaccharidosis IVA GALNT Tumoral calcinosis hyperphosphatemic familial GALT Galactosemia GAMT Cerebral creatine deficiency syndrome 2 GAN Giant axonal neuropathy-1 GARS Charcot-Marie-Tooth disease type 2D GATA Anemia X-linked with/without neutropenia and/or platelet abnormalities GATA Dendritic cell monocyte B lymphocyte and natural killer lymphocyte deficiency GATA Hypoparathyroidism sensorineural deafness and renal dysplasia GATA Atrial septal defect 2 GATA Atrial septal defect 9 GATAD Cardiomyopathy dilated 2B GATAD2B Mental retardation autosomal dominant 18 GATM Cerebral creatine deficiency syndrome 3 GBA Gaucher disease perinatal lethal GBA Spastic paraplegia 46 autosomal recessive GBE Glycogen storage disease IV GCDH Glutaricaciduria type I GCH Dystonia DOPA-responsive with or without hyperphenylalaninemia GCK Diabetes mellitus gestational GCLC Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency GCNT Adult i phenotype without cataract GCSH Glycine encephalopathy

30 GDAP Charcot-Marie-Tooth disease axonal type 2K GDF Double-outlet right ventricle GDF Klippel-Feil syndrome 3 autosomal dominant GDF Acromesomelic dysplasia Hunter-Thompson type GDF Klippel-Feil syndrome 1 autosomal dominant GDI Mental retardation X-linked 41 GDNF Central hypoventilation syndrome GFAP Alexander disease GFER Myopathy mitochondrial progressive with congenital cataract hearing loss and developmental delay GFI Neutropenia nonimmune chronic idiopathic of adults GFM Combined oxidative phosphorylation deficiency 1 GFPT Myasthenia congenital with tubular aggregates 1 GGCX Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency GH Growth hormone deficiency isolated type IA GHR GHRHR Growth hormone deficiency isolated type IB GHSR Short stature GIF Intrinsic factor deficiency GIGYF Parkinson disease 11 GIPC Deafness autosomal recessive 15 GJA Atrioventricular septal defect 3 GJA Cataract 14 multiple types GJA Atrial fibrillation familial 11 GJA Cataract 1 multiple types GJB Charcot-Marie-Tooth neuropathy X-linked dominant 1 GJB Bart-Pumphrey syndrome GJB Deafness autosomal dominant 2B GJB Erythrokeratodermia variabilis with erythema gyratum repens GJB Deafness autosomal dominant 3B GJC Leukodystrophy hypomyelinating 2 GK Glycerol kinase deficiency GLA Fabry disease GLB GM1-gangliosidosis type I

31 GLDC Glycine encephalopathy GLE Arthrogryposis lethal with anterior horn cell disease GLI Holoprosencephaly-9 GLI Greig cephalopolysyndactyly syndrome GLIS Nephronophthisis 7 GLIS Diabetes mellitus neonatal with congenital hypothyroidism GLRA Hyperekplexia hereditary 1 autosomal dominant or recessive GLRB Hyperekplexia 2 autosomal recessive GLRX Anemia sideroblastic pyridoxine-refractory autosomal recessive GLUD Hyperinsulinism-hyperammonemia syndrome GLUL Glutamine deficiency congenital GLYCTK D-glyceric aciduria GM2A GM2-gangliosidosis AB variant GMPPB Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 14 GMPS Leukemia acute myelogenous GNAI Ventricular tachycardia, idiopathic GNAI Auriculocondylar syndrome 1 GNAL Dystonia 25 GNAQ Capillary malformations congenital 1 somatic mosaic GNAS Acromegaly GNAT Night blindness congenital stationary autosomal dominant 3 GNAT Achromatopsia-4 GNB Charcot-Marie-Tooth disease dominant intermediate F GNE Inclusion body myopathy autosomal recessive GNMT Glycine N-methyltransferase deficiency GNPAT Chondrodysplasia punctata rhizomelic type 2 GNPTAB Mucolipidosis II alpha/beta GNPTG Mucolipidosis III gamma GNRH Hypogonadotropic hypogonadism 12 with or without anosmia GNRHR Fertile eunuch syndrome GNS Mucopolysaccharidosis type IIID GOLGA Thyroid carcinoma papillary GORAB Geroderma osteodysplasticum

32 GOSR Epilepsy progressive myoclonic 6 GOT Aspartate aminotransferase serum level of QTL1 GP1BA Bernard-Soulier syndrome type A1 (recessive) GP1BB Bernard-Soulier syndrome type B GP Bleeding disorder platelet-type 11 GP Bernard-Soulier syndrome type C GPC Simpson-Golabi-Behmel syndrome type 1 GPC Omodysplasia 1 GPD Hypertriglyceridemia transient infantile GPD1L Brugada syndrome 2 GPHN Molybdenum cofactor deficiency type C GPI Hemolytic anemia nonspherocytic due to glucose phosphate isomerase deficiency GPR Nystagmus 6 congenital X-linked GPR Night blindness congenital stationary (complete) 1E autosomal recessive GPR Polymicrogyria bilateral frontoparietal GPR Febrile seizures familial 4 GPSM Chudley-McCullough syndrome GRHL Deafness autosomal dominant 28 GRHPR Hyperoxaluria primary type II GRIA Mental retardation X-linked 94 GRIK Mental retardation autosomal recessive 6 GRIN Mental retardation autosomal dominant 8 GRIN2A Epilepsy with neurodevelopmental defects GRIN2B Mental retardation autosomal dominant 6 GRK Oguchi disease-2 GRM Spinocerebellar ataxia autosomal recessive 13 GRM Night blindness congenital stationary (complete) 1B autosomal recessive GRN Aphasia primary progressive GRXCR Deafness autosomal recessive 25 GSN Amyloidosis Finnish type GSS Glutathione synthetase deficiency GTF2H Trichothiodystrophy complementation group A GUCA1A Cone dystrophy-3

33 GUCA1B Retinitis pigmentosa 48 GUCY2C Diarrhea 6 GUCY2D Cone-rod dystrophy 6 GUSB Mucopolysaccharidosis VII GYG Glycogen storage disease XV GYS Glycogen storage disease 0 muscle GYS Glycogen storage disease type 0 H Beckwith-Wiedemann syndrome H6PD Cortisone reductase deficiency 1 HADH HADHA Fatty liver acute of pregnancy HADHB Trifunctional protein deficiency HAMP Hemochromatosis type 2B HARS Usher syndrome type 3B HARS Perrault syndrome 2 HAX Neutropenia severe congenital 3 autosomal recessive HBA Erythremias HBA HBB Delta-beta thalassemia HBD Thalassemia due to Hb Lepore HBG Fetal hemoglobin quantitative trait locus 1 HBG Cyanosis transient neonatal HCCS Microphthalmia syndromic 7 HCFC Mental retardation X-linked 3 HCN Brugada syndrome 8 HCRT Narcolepsy 1 HDAC Brachydactyly-mental retardation syndrome HDAC Cornelia de Lange syndrome 5 HEATR Ciliary dyskinesia primary 18 HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts 2A HES Spondylocostal dysostosis 4 autosomal recessive HESX Growth hormone deficiency with pituitary anomalies HEXA GM2-gangliosidosis several forms

34 HEXB Sandhoff disease infantile juvenile and adult forms HFE Hemochromatosis HGD Alkaptonuria HGF Deafness autosomal recessive 39 HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo C) HIBCH hydroxyisobutryl-CoA hydrolase deficiency HINT Neuromyotonia and axonal neuropathy autosomal recessive HK Hemolytic anemia due to hexokinase deficiency HLCS Holocarboxylase synthetase deficiency HMBS Porphyria acute intermittent HMGCL HMG-CoA lyase deficiency HMGCS HMG-CoA synthase-2 deficiency HMOX Heme oxygenase-1 deficiency HMX Oculoauricular syndrome HNF1A Diabetes mellitus insulin-dependent 20 HNF1B Diabetes mellitus noninsulin-dependent HNF4A MODY type I HOGA Hyperoxaluria primary type III HOXA Athabaskan brainstem dysgenesis syndrome HOXA Radioulnar synostosis with amegakaryocytic thrombocytopenia HOXA Guttmacher syndrome HOXA Microtia hearing impairment and cleft palate HOXB Facial paresis hereditary congenital 3 HOXC Ectodermal dysplasia 9 hair/nail type HOXD Charcot-Marie-Tooth disease foot deformity of HOXD Brachydactyly type D HPD Hawkinsinuria HPGD Cranioosteoarthropathy HPRT HPRT-related gout HPS Hermansky-Pudlak syndrome 1 HPS Hermansky-Pudlak syndrome 3 HPS Hermansky-Pudlak syndrome 4 HPS Hermansky-Pudlak syndrome 5

35 HPS Hermansky-Pudlak syndrome 6 HPSE Urofacial syndrome 1 HR Alopecia universalis HRAS Congenital myopathy with excess of muscle spindles HRG Thrombophilia due to HRG deficiency HSD11B Cortisone reductase deficiency 2 HSD11B Apparent mineralocorticoid excess HSD17B beta-hydroxysteroid dehydrogenase X deficiency HSD17B Pseudohermaphroditism male with gynecomastia HSD17B D-bifunctional protein deficiency HSD3B beta-hydroxysteroid dehydrogenase type II deficiency HSD3B Bile acid synthesis defect congenital 1 HSF Cataract 5 multiple types HSPB Charcot-Marie-Tooth disease axonal type 2F HSPB Neuronopathy distal hereditary motor type IIC HSPB Charcot-Marie-Tooth disease axonal type 2L HSPD Leukodystrophy hypomyelinating 4 HSPG Dyssegmental dysplasia Silverman-Handmaker type HTR1A Periodic fever menstrual cycle dependent HTRA CARASIL syndrome HTRA Parkinson disease 13 HTT Huntington disease HUWE Mental retardation X-linked syndromic Turner type HYAL Mucopolysaccharidosis type IX HYDIN Ciliary dyskinesia primary 5 HYLS Hydrolethalus syndrome ICK Endocrine-cerebroosteodysplasia ICOS Immunodeficiency common variable 1 IDH D-2-hydrosyglutaric aciduria 2 IDH3B Retinitis pigmentosa 46 IDS Mucopolysaccharidosis II IDUA Mucopolysaccharidosis Ih IER3IP Microcephaly epilepsy and diabetes syndrome

36 IFITM Osteogenesis imperfecta type V IFNGR BCG infection generalized familial IFT Cranioectodermal dysplasia 1 IFT Mainzer-Saldino syndrome IFT Cranioectodermal dysplasia 3 IFT Asphyxiating thoracic dystrophy 2 IGBP Corpus callosum agenesis of with mental retardation ocular coloboma and micrognathia IGF Growth retardation with deafness and mental retardation due to IGF1 deficiency IGF1R Insulin-like growth factor I resistance to IGF2R Hepatocellular carcinoma IGFALS Acid-labile subunit IGFBP Retinal arterial macroaneurysm with supravalvular pulmonic stenosis IGHMBP Neuronopathy distal hereditary motor type VI IGLL Agammaglobulinemia 2 IGSF Hypothyroidism central and testicular enlargement IHH Acrocapitofemoral dysplasia IKBKAP Dysautonomia familial IKBKG Ectodermal dysplasia hypohidrotic with immune deficiency IKZF Leukemia IL10RA Inflammatory bowel disease 28 early onset autosomal recessive IL10RB Inflammatory bowel disease 25, early onset, autosomal recessive IL10RB {Hepatitis B virus, susceptibility to} IL11RA Craniosynostosis and dental anomalies IL17F Candidiasis familial 6 autosomal dominant IL17RA Candidiasis familial 5 autosomal recessive IL17RD Hypogonadotropic hypogonadism 18 with or without anosmia IL1RAPL Mental retardation X-linked 21/34 IL1RN Interleukin 1 receptor antagonist deficiency IL21R Immunodeficiency primary autosomal recessive IL21R-related IL2RA Interleukin-2 receptor alpha chain deficiency of IL2RG Combined immunodeficiency X-linked moderate IL31RA Amyloidosis primary localized cutaneous 2 IL36RN Psoriasis generalized pustular

37 IL7R Severe combined immunodeficiency T-cell negative B-cell/natural killer cell-positive type ILDR Deafness autosomal recessive 42 IMPAD Chondrodysplasia with joint dislocations GRAPP type IMPDH Leber congenital amaurosis 11 IMPG Maculopathy IMPG2-related INF Charcot-Marie-Tooth disease dominant intermediate E ING Squamous cell carcinoma head and neck somatic INPP5E Joubert syndrome 1 INPPL Opsismodysplasia INS Diabetes mellitus insulin-dependent 2 INSL Cryptorchidism INSR Diabetes mellitus insulin-resistant with acanthosis nigricans INVS Nephronophthisis 2 infantile IQCB Senior-Loken syndrome 5 IQSEC Mental retardation X-linked 1 IRAK Invasive pneumococcal disease recurrent isolated 1 IRF Gastric cancer somatic IRF Multiple myeloma IRF Orofacial cleft 6 IRF CD11C+/CD1C+ dendritic cell deficiency dominant IRGM Inflammatory bowel disease 19 IRX Hamamy syndrome ISCU Myopathy with lactic acidosis hereditary ISPD Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 7 ITCH Autoimmune disease syndromic multisystem ITGA2B Bleeding disorder platelet-type 16 autosomal dominant ITGA Interstitial lung disease nephrotic syndrome and epidermolysis bullosa congenital ITGA Epidermolysis bullosa junctional with pyloric stenosis ITGA Muscular dystrophy congenital due to ITGA7 deficiency ITGB Leukocyte adhesion deficiency ITGB Bleeding disorder platelet-type 16 autosomal dominant ITGB Epidermolysis bullosa of hands and feet ITK Lymphoproliferative syndrome 1

38 ITM2B Dementia familial British ITPR Spinocerebellar ataxia 15 IVD Isovaleric acidemia IYD Thyroid dyshormonogenesis 4 JAG Alagille syndrome JAK Erythrocytosis somatic JAK SCID autosomal recessive T-negative/B-positive type JAM Hemorrhagic destruction of the brain subependymal calcification and cataracts JPH Cardiomyopathy familial hypertrophic 17 JPH Huntington disease-like 2 JUP Arrhythmogenic right ventricular dysplasia 12 KAL Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) KANK Cerebral palsy spastic quadriplegic 2 KANSL Koolen-De Vries syndrome KARS Charcot-Marie-Tooth disease recessive intermediate B KAT6B Genitopatellar syndrome KBTBD Nemaline myopathy 6 autosomal dominant KCNA Episodic ataxia/myokymia syndrome KCNA Atrial fibrillation familial 7 KCNC Spinocerebellar ataxia 13 KCNE Jervell and Lange-Nielsen syndrome 2 KCNE Atrial fibrillation familial 4 KCNE Brugada syndrome 6 KCNH Long QT syndrome-2 KCNJ Bartter syndrome type 2 KCNJ Enlarged vestibular aqueduct digenic KCNJ Diabetes mellitus permanent neonatal with neurologic features KCNJ Andersen syndrome KCNJ Hyperaldosteronism familial type III KCNK Pulmonary hypertension primary 4 KCNK Birk-Barel mental retardation dysmorphism syndrome KCNMA Generalized epilepsy and paroxysmal dyskinesia KCNQ Atrial fibrillation familial 3

39 KCNQ Epileptic encephalopathy early infantile 7 KCNQ Seizures benign neonatal type 2 KCNQ Deafness autosomal dominant 2A KCNT Epilepsy nocturnal frontal lobe 5 KCNV Retinal cone dystrophy 3B KCTD Scalp-ear-nipple syndrome KCTD Epilepsy progressive myoclonic 3 with or without intracellular inclusions KDM5C Mental retardation X-linked syndromic Claes-Jensen type KDM6A Kabuki syndrome 2 KDR Hemangioma capillary infantile somatic KERA Cornea plana congenita recessive KHDC3L Hydatidiform mole recurrent 2 KIAA Spastic paraplegia 8 autosomal dominant KIAA Goldberg-Shprintzen megacolon syndrome KIF Microcephaly with or without chorioretinopathy lymphedema or mental retardation KIF1A Mental retardation autosomal dominant 9 KIF1B Charcot-Marie-Tooth disease type 2A1 KIF21A Fibrosis of extraocular muscles congenital 1 KIF Spondyloepimetaphyseal dysplasia with joint laxity type 2 KIF5A Spastic paraplegia 10 autosomal dominant KIF Acrocallosal syndrome KIRREL Mental retardation autosomal dominant 4 KISS Hypogonadotropic hypogonadism 13 with or without anosmia KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia KIT Gastrointestinal stromal tumor familial KITLG Hyperpigmentation familial progressive 2 KL Tumoral calcinosis hyperphosphatemic KLF Anemia dyserythropoietic congenital type IV KLF Maturity-onset diabetes of the young type VII KLF Gastric cancer somatic KLHDC8B Hodgkin lymphoma KLHL Spermatogenic failure 11 KLHL Pseudohypoaldosteronism type IID

40 KLHL Nemaline myopathy 8 autosomal recessive KLHL Retinitis pigmentosa 42 KLK Amelogenesis imperfecta type IIA1 KLKB Fletcher factor deficiency KLLN Cowden syndrome 4 KMT2A KMT2D Kabuki syndrome 1 KRAS Bladder cancer somatic KRT Epidermolytic hyperkeratosis KRT Epidermolytic hyperkeratosis KRT Meesmann corneal dystrophy KRT White sponge nevus KRT Dermatopathia pigmentosa reticularis KRT Pachyonychia congenita Jadassohn-Lewandowsky type KRT Pachyonychia congenita Jackson-Lawler type KRT Cirrhosis KRT Ichthyosis bullosa of Siemens KRT Meesmann corneal dystrophy KRT White sponge nevus KRT Dowling-Degos disease 1 KRT6A Pachyonychia congenita Jadassohn-Lewandowsky type KRT6B Pachyonychia congenita Jackson-Lawler type KRT Hypotrichosis simplex of the scalp 2 KRT Cirrhosis KRT Monilethrix KRT Monilethrix KRT Ectodermal dysplasia 4 hair/nail type KRT Monilethrix KRT Epidermolytic palmoplantar keratoderma L1CAM Corpus callosum partial agenesis of L2HGDH L-2-hydroxyglutaric aciduria LAMA Muscular dystrophy congenital merosin-deficient LAMA Epidermolysis bullosa generalized atrophic benign

41 LAMA Cardiomyopathy dilated 1JJ LAMB Lissencephaly 5 LAMB Nephrotic syndrome type 5 with or without ocular abnormalities LAMB Epidermolysis bullosa junctional Herlitz type LAMC Epidermolysis bullosa junctional Herlitz type LAMC Cortical malformations occipital LAMP Danon disease LAMTOR Immunodeficiency due to defect in MAPBP-interacting protein LARGE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 6 LARP Alazami syndrome LARS Perrault syndrome 4 LBR HEM skeletal dysplasia LCA Leber congenital amaurosis 5 LCAT Fish-eye disease LCT Lactase deficiency congenital LDB Cardiomyopathy dilated 1C LDHA Glycogen storage disease XI LDHB Lactate dehydrogenase-b deficiency LDLR Hypercholesterolemia familial LDLRAP Hypercholesterolemia familial autosomal recessive LEF Sebaceous tumors LEMD Buschke-Ollendorff syndrome LEP Obesity morbid due to leptin deficiency LEPR Obesity morbid due to leptin receptor deficiency LEPRE Osteogenesis imperfecta type VIII LEPREL Myopia high with cataract and vitreoretinal degeneration LFNG Spondylocostal dysostosis autosomal recessive 3 LGI Epilepsy familial temporal lobe 1 LHB Hypogonadism LHCGR Leydig cell adenoma somatic with precocious puberty LHFPL Deafness autosomal recessive 67 LHX Pituitary hormone deficiency combined 3 LHX Pituitary hormone deficiency combined 4

42 LIAS Pyruvate dehydrogenase lipoic acid synthetase deficiency LIFR Stuve-Wiedemann syndrome/schwartz-jampel type 2 syndrome LIG LIG LIG4 syndrome LIM Cataract 19 LIPA Cholesteryl ester storage disease LIPC Hepatic lipase deficiency LIPH Hypotrichosis localized autosomal recessive 2 LIPN Ichthyosis congenital autosomal recessive 8 LITAF Charcot-Marie-Tooth disease type 1C LMAN Combined factor V and VIII deficiency LMBR Acheiropody LMBRD Methylmalonic aciduria and homocystinuria cblf type LMF Lipase deficiency combined LMNA Cardiomyopathy dilated 1A LMNB Leukodystrophy adult-onset autosomal dominant LMX1B Nail-patella syndrome LOR Vohwinkel syndrome with ichthyosis LOXHD Deafness autosomal recessive 77 LPIN Myoglobinuria acute recurrent autosomal recessive LPIN Majeed syndrome LPL Combined hyperlipidemia familial LPP Leukemia acute myeloid LRAT Leber congenital amaurosis 14 LRBA Immunodeficiency common variable 8 with autoimmunity LRIG Urofacial syndrome 2 LRIT Night blindness congenital stationary (complete) 1F autosomal recessive LRP Donnai-Barrow syndrome LRP Cenani-Lenz syndactyly syndrome LRP Exudative vitreoretinopathy 4 LRPPRC Leigh syndrome French-Canadian type LRRC Ciliary dyskinesia primary 19 LRRC8A Agammaglobulinemia 5

43 LRRK Parkinson disease 8 LRSAM Charcot-Marie-Toothe disease axonal type 2P LRTOMT Deafness autosomal recessive 63 LTBP Glaucoma 3 primary congenital D LTBP Tooth agenesis selective 6 LTBP Cutis laxa autosomal recessive type IC LYST Chediak-Higashi syndrome LYZ Amyloidosis renal LZTS Esophageal squamous cell carcinoma MAD1L Lymphoma MAF Cataract pulverulent or cerulean with or without microcornea MAFB Multicentric carpotarsal osteolysis syndrome MAGT Immunodeficiency X-linked with magnesium defect Epstein-Barr virus infection and neoplasia MAK REtinitis pigmentosa 62 MAL MALT MALT lymphoma MAML Mucoepidermoid salivary gland carcinoma MAMLD Hypospadias 2 X-linked MAN1B Mental retardation autosomal recessive 15 MAN2B Mannosidosis alpha- types I and II MANBA Mannosidosis beta MAOA Brunner syndrome MAP2K Cardiofaciocutaneous syndrome 3 MAP2K Cardiofaciocutaneous syndrome 4 MAP3K XY sex reversal 6 MAP3K Lung cancer somatic MAPK Epileptic encephalopathy Lennox-Gastaut type MAPT Dementia frontotemporal with or without parkinsonism MARVELD Deafness autosomal recessive 49 MASP MC syndrome 1 MASP MASP2 deficiency MASTL Thrombocytopenia-2 MAT1A Hypermethioninemia persistent autosomal dominant due to methionine adenosyltransferase I/III deficiency

44 MATN Epiphyseal dysplasia multiple 5 MATR Myopathy distal 2 MBD Mental retardation autosomal dominant 1 MBTPS IFAP syndrome with or without BRESHECK syndrome MC2R Glucocorticoid deficiency due to ACTH unresponsiveness MC4R Obesity autosomal dominant MCC Colorectal cancer MCCC Methylcrotonyl-CoA carboxylase 1 deficiency MCCC Methylcrotonyl-CoA carboxylase 2 deficiency MCEE Methylmalonyl-CoA epimerase deficiency MCFD Factor V and factor VIII combined deficiency of MCM Natural killer cell and glucocorticoid deficiency with DNA repair defect MCM Lactase persistance/nonpersistance MCOLN Mucolipidosis IV MCPH Microcephaly 1 primary autosomal recessive MECP Angelman syndrome MED Lujan-Fryns syndrome MED13L Transposition of the great arteries dextro-looped 1 MED Microcephaly postnatal progressive with seizures and brain atrophy MED Mental retardation autosomal recessive 18 MED Charcot-Marie-Tooth disease type 2B2 MEF2C Mental retardation stereotypic movements epilepsy and/or cerebral malformations MEFV Familial Mediterranean fever AD MEGF Myopathy areflexia respiratory distress and dysphagia early-onset MEGF Carpenter syndrome 2 MEN Adrenal adenoma MEOX Klippel-Feil syndrome 2 MERTK Retinitis pigmentosa 38 MESP Spondylocostal dysostosis autosomal recessive 2 MET Hepatocellular carcinoma childhood type MFN Charcot-Marie-Tooth disease type 2A2 MFSD Ceroid lipofuscinosis neuronal 7 MGAT Congenital disorder of glycosylation type IIa

45 MGME Mitochondrial DNA depletion syndrome 11 MGP Keutel syndrome MIB Left ventricular noncompaction 7 MID Opitz GBBB syndrome type I MINPP Thyroid carcinoma follicular MIP Cataract 15 multiple types MIR17HG?? Feingold syndrome 2 MIR EDICT syndrome MIR Deafness autosomal dominant 50 MITF Tietz albinism-deafness syndrome MKKS Bardet-Biedl syndrome 6 MKL Megakaryoblastic leukemia MKRN Precocious puberty central 2 MKS Bardet-Biedl syndrome 13 MLC Megalencephalic leukoencephalopathy with subcortical cysts MLH Colorectal cancer hereditary nonpolyposis type 2 MLH Colon cancer hereditary nonpolyposis type 7 MLLT Leukemia MLPH Griscelli syndrome type 3 MLYCD Malonyl-CoA decarboxylase deficiency MMAA Methylmalonic aciduria vitamin B12-responsive MMAB Methylmalonic aciduria vitamin B12-responsive due to defect in synthesis of adenosylcobalamin cblb complementation type MMACHC Methylmalonic aciduria and homocystinuria cblc type MMADHC MMP COPD rate of decline of lung function in MMP Metaphyseal anadysplasia 1 MMP Torg-Winchester syndrome MMP Amelogenesis imperfecta type IIA2 MMP Metaphyseal anadysplasia 2 MN Meningioma MNX Currarino syndrome MOCS Molybdenum cofactor deficiency type A

46 MOCS Molybdenum cofactor deficiency type B MOG Narcolepsy 7 MOGS MPC MPDU Congenital disorder of glycosylation type If MPDZ Hydrocephalus nonsyndromic autosomal recessive 2 MPI Congenital disorder of glycosylation type Ib MPL Myelofibrosis with myeloid metaplasia somatic MPLKIP Trichothiodystrophy nonphotosensitive 1 MPO Myeloperoxidase deficiency MPV Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MPZ Charcot-Marie-Tooth disease dominant intermediate D MR Paroxysmal nonkinesigenic dyskinesia MRAP Glucocorticoid deficiency 2 MRE11A Ataxia-telangiectasia-like disorder MRPL Combined oxidative phosphorylation deficiency 9 MRPS Combined oxidative phosphorylation deficiency 2 MRPS Combined oxidative phosphorylation deficiency 5 MS4A Immunodeficiency common variable 5 MSH Colorectal cancer hereditary nonpolyposis type 1 MSH MSH Colorectal cancer hereditary nonpolyposis type 5 MSR Barrett esophagus/esophageal adenocarcinoma MSRB Deafness autosomal recessive 74 MSTN MSX Ectodermal dysplasia 3 Witkop type MSX Craniosynostosis type 2 MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma MTFMT Combined oxidative phosphorylation deficiency 15 MTHFR Homocystinuria due to MTHFR deficiency MTM Myotubular myopathy X-linked MTMR Charcot-Marie-Tooth disease type 4B1 MTO Combined oxidative phosphorylation deficiency 10

47 MTPAP Ataxia spastic 4 MTR Homocystinuria-megaloblastic anemia cblg complementation type MTRR Homocystinuria-megaloblastic anemia cbl E type MTTP Merff syndrome MUC Medullary cystic kidney disease 1 MUC Medullary cystic kidney disease 1 MUC Medullary cystic kidney disease 1 MUSK Myasthenic syndrome congenital associated with acetylcholine receptor deficiency MUT Methylmalonic aciduria mut(0) type MUTYH Adenomas multiple colorectal MVK Hyper-IgD syndrome MXI Neurofibrosarcoma MYBPC Arthrogryposis distal type 1B MYBPC Cardiomyopathy familial hypertrophic 4 MYC Burkitt lymphoma MYCN Feingold syndrome MYD Macroglobulinemia Waldenstrom somatic MYF Myopathy centronuclear 3 MYH Aortic aneurysm familial thoracic 4 MYH Deafness autosomal dominant 4A MYH Inclusion body myopathy-3 MYH Arthrogryposis distal type 2A MYH Atrial septal defect 3 MYH Cardiomyopathy dilated 1S MYH Carney complex variant MYH Deafness autosomal dominant 17 MYL Cardiomyopathy familial hypertrophic 10 MYL Cardiomyopathy familial hypertrophic 8 MYLK Aortic aneurysm familial thoracic 7 MYLK Cardiomyopathy hypertrophic midventricular digenic MYO15A Deafness autosomal recessive 3 MYO1A Deafness autosomal dominant 48 MYO1E Glomerulosclerosis focal segmental 6

48 MYO3A Deafness autosomal recessive 30 MYO5A Griscelli syndrome type 1 MYO5B Microvillus inclusion disease MYO Deafness autosomal dominant 22 MYO7A Deafness autosomal dominant 11 MYOC Glaucoma 1A primary open angle MYOT Muscular dystrophy limb-girdle type 1A MYOZ Cardiomyopathy familial hypertrophic 16 MYPN Cardiomyopathy dilated 1KK NAA N-terminal acetyltransferase deficiency NAGA Kanzaki disease NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo B) NAGS N-acetylglutamate synthase deficiency NAT8L N-acetylaspartate deficiency NBAS Short stature optic nerve atrophy and Pelger-Huet anomaly NBEAL Gray platelet syndrome NBEAP Lymphoma NBN Leukemia, acute lymphoblastic NBN Nijmegen breakage syndrome NBN Aplastic anemia NCF Chronic granulomatous disease due to deficiency of NCF-2 NCF Granulomatous disease chronic autosomal recessive cytochrome b-positive type III NCOA Thyroid carcinoma papillary NCSTN Acne inversa familial 1 NDE Lissencephaly 4 (with microcephaly) NDN Prader-Willi syndrome NDP Exudative vitreoretinopathy X-linked NDRG Charcot-Marie-Tooth disease type 4D NDUFA Mitochondrial complex I deficiency NDUFA Leigh syndrome NDUFA Mitochondrial complex I deficiency NDUFA Leigh syndrome due to mitochondrial complex 1 deficiency NDUFA Leigh syndrome due to mitochondrial complex I deficiency

49 NDUFA Leigh syndrome due to mitochondrial complex I deficiency NDUFAF Mitochondrial complex I deficiency NDUFAF Leigh syndrome NDUFAF Mitochondrial complex I deficiency NDUFAF Mitochondrial complex I deficiency NDUFAF Mitochondrial complex 1 deficiency NDUFAF Leigh syndrome due to mitochondrial complex I deficiency NDUFB Mitochondrial complex I deficiency NDUFS Mitochondrial complex I deficiency NDUFS Mitochondrial complex I deficiency NDUFS Leigh syndrome due to mitochondrial complex I deficiency NDUFS Leigh syndrome NDUFS Complex I mitochondrial respiratory chain deficiency of NDUFS Leigh syndrome NDUFS Leigh syndrome due to mitochondrial complex I deficiency NDUFV Mitochondrial complex I deficiency NDUFV Mitochondrial complex I deficiency NEB Nemaline myopathy 2 autosomal recessive NEFL Charcot-Marie-Tooth disease type 1F NEK Short rib-polydactyly syndrome type IIA NEK Nephronophthisis 9 NEU Sialidosis type I NEUROD Maturity-onset diabetes of the young 6 NEUROG Diarrhea 4 malabsorptive congenital NEXN Cardiomyopathy dilated 1CC NF Leukemia juvenile myelomonocytic NF Meningioma NF2-related somatic NFIX Marshall-Smith syndrome NFKBIA Ectodermal dysplasia anhidrotic with T-cell immunodeficiency NFU Multiple mitochondrial dysfunctions syndrome 1 NHEJ Severe combined immunodeficiency with microcephaly growth retardation and sensitivity to ionizing radiation NHLRC Epilepsy progressive myoclonic 2B (Lafora) NHP Dyskeratosis congenita, autosomal recessive 2

50 NHS Cataract 40 X-linked NIN Seckel syndrome 7 NIPA Spastic paraplegia 6 autosomal dominant NIPAL Ichthyosis congenital autosomal recessive 6 NIPBL Cornelia de Lange syndrome 1 NKX Chorea hereditary benign NKX Asplenia isolated congenital NKX Persistent truncus arteriosus NKX Spondylo-megaepiphyseal-metaphyseal dysplasia NLGN4X NLRP Familial cold autoinflammatory syndrome 2 NLRP CINCA syndrome NME Neuroblastoma NME Ciliary dyskinesia primary 6 NMNAT Leber congenital amaurosis 9 NNT Glucocorticoid deficiency 4 NOBOX Premature ovarian failure 5 NOD Blau syndrome NODAL Heterotaxy visceral 5 NOG Brachydactyly type B2 NOL Myoclonus familial cortical NOP Dyskeratosis congenita, autosomal recessive 1 NOP Spinocerebellar ataxia 36 NOTCH Aortic valve disease NOTCH Alagille syndrome 2 NOTCH Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy NPC Niemann-Pick disease type C1 NPC Niemann-pick disease type C2 NPHP Joubert syndrome 4 NPHP Meckel syndrome 7 NPHP Nephronophthisis 4 NPHS Nephrotic syndrome type 1 NPHS

51 NPM Leukemia acute myeloid NPPA Atrial fibrillation familial 6 NPR Acromesomelic dysplasia Maroteaux type NR0B Obesity mild early-onset NR2E Enhanced S-cone syndrome NR3C NR3C Hypertension early-onset autosomal dominant with exacerbation in pregnancy NR5A XY sex reversal 3 NRAS Autoimmune lymphoproliferative syndrome type IV NRL Retinal degeneration autosomal recessive NRXN Pitt-Hopkins-like syndrome 2 NSD Beckwith-Wiedemann syndrome NSDHL CHILD syndrome NSMF Hypogonadotropic hypogonadism 9 with or without anosmia NSUN Mental retardation autosomal recessive 5 NT5C3A NT5E Calcification of joints and arteries NTF Glaucoma 1 open angle 1O NTRK Insensitivity to pain congenital with anhidrosis NTRK Obesity hyperphagia and developmental delay NUBPL Mitochondrial complex I deficiency NUMA Leukemia acute promyelocytic NUP Leukemia acute myeloid NUP Striatonigral degeneration infantile NYX Night blindness congenital stationary (complete) 1A X-linked OAT Gyrate atrophy of choroid and retina with or without ornithinemia OBSL M syndrome 2 OCA Albinism brown oculocutaneous OCLN Band-like calcification with simplified gyration and polymicrogyria OCRL Dent disease 2 OFD Joubert syndrome 10 OGG Renal cell carcinoma clear cell somatic OPA Optic atrophy 1

52 OPA methylglutaconic aciduria type III OPHN Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance OPLAH oxoprolinase deficiency OPN1LW?? Blue cone monochromacy OPN1SW Colorblindness tritan OPTN Amyotrophic lateral sclerosis 12 ORAI Immune dysfunction with T-cell inactivation due to calcium entry defect 1 ORC Meier-Gorlin syndrome 1 ORC Meier-Gorlin syndrome 2 ORC Meier-Gorlin syndrome 3 OSMR Amyloidosis primary localized cutaneous 1 OSTM Osteopetrosis autosomal recessive 5 OTC Ornithine transcarbamylase deficiency OTOA Deafness autosomal recessive 22 OTOF Auditory neuropathy autosomal recessive 1 OTOG Deafness autosomal recessive 18B OTOGL Deafness autosomal recessive 84B OTX Microphthalmia syndromic 5 OXCT Succinyl CoA:3-oxoacid CoA transferase deficiency P2RX Bleeding disorder due to P2RX1 defect P2RY Bleeding disorder platelet-type 8 PABPN Oculopharyngeal muscular dystrophy PACS Mental retardation autosomal dominant 17 PAFAH1B Lissencephaly 1 PAH Phenylketonuria PAK Mental retardation X-linked 30/47 PALB Fanconi anemia complementation group N PANK HARP syndrome PAPSS Brachyolmia 4 with mild epiphyseal and metaphyseal changes PAX Papillorenal syndrome PAX Craniofacial-deafness-hand syndrome PAX Diabetes mellitus ketosis-prone PAX Aniridia

53 PAX Rhabdomyosarcoma 2 alveolar PAX Hypothyroidism congenital due to thyroid dysgenesis or hypoplasia PAX Tooth agenesis selective 3 PC Pyruvate carboxylase deficiency PCBD PCCA Propionicacidemia PCCB Propionicacidemia PCDH Deafness autosomal recessive 23 PCDH Epileptic encephalopathy early infantile 9 PCM Thyroid carcinoma papillary PCNT Microcephalic osteodysplastic primordial dwarfism type II PCSK Obesity with impaired prohormone processing PCSK Hypercholesterolemia familial 3 PDCD Cerebral cavernous malformations 3 PDE11A Pigmented nodular adrenocortical disease primary 2 PDE4D Acrodysostosis 2 with or without hormone resistance PDE6A Retinitis pigmentosa 43 PDE6B Night blindness congenital stationary autosomal dominant 2 PDE6C Cone dystrophy 4 PDE6G Retinitis pigmentosa 57 PDE6H Achromatopsia 6 PDE8B Pigmented nodular adrenocortical disease primary 3 PDGFB Dermatofibrosarcoma protuberans PDGFRA Gastrointestinal stromal tumor somatic PDGFRB Basal ganglia calcification idiopathic 4 PDGFRL Colorectal cancer somatic PDHA Leigh syndrome X-linked PDHB Pyruvate dehydrogenase E1-beta deficiency PDP Pyruvate dehydrogenase phosphatase deficiency PDSS Coenzyme Q10 deficiency primary 2 PDSS Coenzyme Q10 deficiency primary 3 PDX Lacticacidemia due to PDX1 deficiency PDYN Spinocerebellar ataxia 23

54 PDZD Usher syndrome type IIC GPR98/PDZD7 digenic PEPD Prolidase deficiency PER Advanced sleep phase syndrome familial 1 PEX Peroxisome biogenesis disorder 1A (Zellweger) PEX Peroxisome biogenesis disorder 6A (Zellweger) PEX11B Peroxisome biogenesis disorder 14B PEX Peroxisome biogenesis disorder 3A (Zellweger) PEX Peroxisome biogenesis disorder 11A (Zellweger) PEX Peroxisome biogenesis disorder 13A (Zellweger) PEX Peroxisome biogenesis disorder 8A (Zellweger) PEX Peroxisome biogenesis disorder 12A (Zellweger) PEX Peroxisome biogenesis disorder 5B PEX Peroxisome biogenesis disorder 5A (Zellweger) PEX Peroxisome biogenesis disorder 7A (Zellweger) PEX Peroxisome biogenesis disorder 10A (Zellweger) PEX Peroxisome biogenesis disorder 2A (Zellweger) PEX Peroxisome biogenesis disorder 4A (Zellweger) PEX Peroxisome biogenesis disorder 9B PFKM Glycogen storage disease VII PFN Amyotrophic lateral sclerosis 18 PGAM Glycogen storage disease X PGAP Hyperphosphatasia with mental retardation syndrome 3 PGK Phosphoglycerate kinase 1 deficiency PGM Congenital disorder of glycosylation type It PHEX Hypophosphatemic rickets X-linked dominant PHF Borjeson-Forssman-Lehmann syndrome PHF Mental retardation syndrome X-linked Siderius type PHGDH Phosphoglycerate dehydrogenase deficiency PHKA Muscle glycogenosis PHKA Glycogen storage disease type IXa1 PHKB Phosphorylase kinase deficiency of liver and muscle autosomal recessive PHKG PHOX2A Fibrosis of extraocular muscles congenital 2

55 PHOX2B PHYH Refsum disease PICALM Leukemia acute myeloid PIEZO Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema PIGA Multiple congenital anomalies-hypotonia-seizures syndrome 2 PIGL CHIME syndrome PIGM Glycosylphosphatidylinositol deficiency PIGN Multiple congenital anomalies-hypotonia-seizures syndrome 1 PIGO Hyperphosphatasia with mental retardation syndrome 2 PIGV Hyperphosphatasia with mental retardation syndrome 1 PIK3CA Breast cancer somatic PIK3R Agammaglobulinemia 7 autosomal recessive PIK3R Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome PIK3R Ataxia-oculomotor apraxia 3 PIKFYVE Corneal fleck dystrophy PINK Parkinson disease 6 early onset PIP5K1C Lethal congenital contractural syndrome 3 PITPNM Cone-rod dystrophy 5 PITX Clubfoot congenital with or without deficiency of long bones and/or mirror-image polydactyly PITX Axenfeld-Rieger syndrome type 1 PITX Anterior segment mesenchymal dysgenesis PKD Polycystic kidney disease adult type I PKD Polycystic kidney disease 2 PKHD PKLR Adenosine triphosphate elevated of erythrocytes PKP Ectodermal dysplasia/skin fragility syndrome PKP Arrhythmogenic right ventricular dysplasia 9 PLA2G4A Phospholipase A2 group IV A PLA2G Fleck retina familial benign PLA2G Infantile neuroaxonal dystrophy 1 PLA2G Platelet-activating factor acetylhydrolase deficiency PLAG Adenomas salivary gland pleomorphic PLAU Quebec platelet disorder

56 PLCB Epileptic encephalopathy early infantile 12 PLCB Auriculocondylar syndrome 2 PLCD Nail disorder nonsyndromic congenital 3 (leukonychia) PLCE Nephrotic syndrome type 3 PLCG Autoinflammation antibody deficiency and immune dysregulation syndrome PLEC PLEKHG Spinal muscular atrophy distal autosomal recessive 4 PLEKHM Osteopetrosis autosomal recessive 6 PLG Conjunctivitis ligneous PLIN Lipodystrophy familial partial type 4 PLN Cardiomyopathy dilated 1P PLOD Ehlers-Danlos syndrome type VI PLOD Bruck syndrome 2 PLOD Lysyl hydroxylase 3 deficiency PLP Pelizaeus-Merzbacher disease PML Leukemia acute promyelocytic PMM Congenital disorder of glycosylation type Ia PMP Charcot-Marie-Tooth disease type 1A PMS Colorectal cancer hereditary nonpolyposis type 4 PNKP Epileptic encephalopathy early infantile 10 PNP Immunodeficiency due to purine nucleoside phosphorylase deficiency PNPLA Ichthyosis congenital autosomal recessive 10 PNPLA Neutral lipid storage disease with myopathy PNPLA Spastic paraplegia 39 autosomal recessive PNPO Pyridoxamine 5-phosphate oxidase deficiency PNPT Combined oxidative phosphorylation deficiency 13 POC1A Short stature onychodysplasia facial dysmorphism and hypotrichosis POFUT Dowling-Degos disease 2 POLG Mitochondrial DNA depletion syndrome 4A (Alpers type) POLG Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant 4 POLH Xeroderma pigmentosum variant type POLR1C Treacher Collins syndrome 3 POLR1D Treacher Collins syndrome 2

57 POLR3A Leukodystrophy hypomyelinating 7 with or without oligodontia and/or hypogonadotropic hypogonadism POLR3B Leukodystrophy hypomyelinating 8 with or without oligodontia and/or hypogonadotropic hypogonadism POMC Obesity adrenal insufficiency and red hair due to POMC deficiency POMGNT Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 3 POMGNT POMGNT POMP Keratosis linearis with ichthyosis congenita and sclerosing keratoderma POMT Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 1 POMT Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 2 POR Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis PORCN Focal dermal hypoplasia POU1F Pituitary hormone deficiency combined 1 POU3F Deafness X-linked 2 POU4F Deafness autosomal dominant 15 PPARG Carotid intimal medial thickness 1 PPIB Osteogenesis imperfecta type IX PPM1D Breast cancer PPM1K Maple syrup urine disease mild variant PPOX Porphyria variegata PPP1R3A Insulin resistance severe digenic PPP2R1B Lung cancer PPP2R2B Spinocerebellar ataxia 12 PPT Ceroid lipofuscinosis neuronal 1 PQBP Renpenning syndrome PRCC Renal cell carcinoma papillary PRCD Retinitis pigmentosa 36 PRDM Brittle cornea syndrome 2 PRF Hemophagocytic lymphohistiocytosis familial 2 PRG Camptodactyly-arthropathy-coxa vara-pericarditis syndrome PRICKLE Epilepsy progressive myoclonic 1B PRICKLE Epilepsy progressive myoclonic 5 PRKAG Cardiomyopathy familial hypertrophic 6 PRKAR1A Acrodysostosis 1 with or without hormone resistance

58 PRKCA Pituitary tumor PRKCG Spinocerebellar ataxia 14 PRKCSH Polycystic liver disease PRKRA Dystonia 16 PRNP Creutzfeldt-Jakob disease PROC Thrombophilia due to protein C deficiency autosomal dominant PRODH Hyperprolinemia type I PROK Hypogonadotropic hypogonadism 4 with or without anosmia PROKR Hypogonadotropic hypogonadism 3 with or without anosmia PROM Cone-rod dystrophy 12 PROP Pituitary hormone deficiency combined 2 PROS Thrombophilia due to protein S deficiency autosomal dominant PRPF Retinitis pigmentosa 18 PRPF Retinitis pigmentosa 11 PRPF Retinitis pigmentosa 60 PRPF Retinitis pigmentosa 13 PRPH Choriodal dystrophy central areolar 2 PRPS Arts syndrome PRRT Convulsions familial infantile with paroxysmal choreoathetosis PRRX Agnathia-otocephaly complex PRSS Pancreatitis hereditary PRSS Mental retardation autosomal recessive 1 PRSS Microphthalmia isolated 6 PRX Charcot-Marie-Tooth disease type 4F PSAP Combined SAP deficiency PSAT Phosphoserine aminotransferase deficiency PSEN Acne inversa familial 3 PSEN Alzheimer disease-4 PSENEN Acne inversa familial 2 PSMB Autoinflammation lipodystrophy and dermatosis syndrome PSMC3IP Ovarian dysgenesis 3 PSTPIP Pyogenic sterile arthritis pyoderma gangrenosum and acne PTCH Basal cell carcinoma somatic

59 PTCH Basal cell carcinoma somatic PTEN Bannayan-Riley-Ruvalcaba syndrome PTF1A Diabetes mellitus permanent neonatal with cerebellar agenesis PTGIS Hypertension essential PTH Hypoparathyroidism autosomal dominant PTH1R PTHLH Brachydactyly type E2 PTPN LEOPARD syndrome 1 PTPN Colon cancer PTPN Choanal atresia and lymphedema PTPRC Severe combined immunodeficiency T cell-negative B-cell/natural killer-cell positive PTPRJ Colon cancer somatic PTPRO Nephrotic syndrome type 6 PTPRQ Deafness autosomal recessive 84A PTRF Lipodystrophy congenital generalized type 4 PTS Hyperphenylalaninemia BH4-deficient A PUS Mitochondrial myopathy and sideroblastic anemia 1 PVRL PVRL Ectodermal dysplasia-syndactyly syndrome 1 PYCR Cutis laxa autosomal recessive type IIB PYGL Glycogen storage disease VI PYGM McArdle disease QDPR Hyperphenylalaninemia BH4-deficient C RAB Warburg micro syndrome 3 RAB Carpenter syndrome RAB27A Griscelli syndrome type 2 RAB33B Smith-McCort dysplasia 2 RAB39B Mental retardation X-linked 72 RAB3GAP Warburg micro syndrome 1 RAB3GAP Martsolf syndrome RAB40AL Mental retardation X-linked syndromic Martin-Probst type RAC Neutrophil immunodeficiency syndrome RAD Cornelia de Lange syndrome 4

60 RAD Nijmegen breakage syndrome-like disorder RAD51C Fanconi anemia complementation group O RAD54B Colon adenocarcinoma RAD54L Adenocarcinoma colonic RAF LEOPARD syndrome 2 RAG A/b T-cell lymphopenia with g/d T-cell expansion severe cytomegalovirus infection and autoimmunity RAG Combined cellular and humoral immune defects with granulomas RAI Smith-Magenis syndrome RAP1GDS Lymphocytic leukemia RAPSN Fetal akinesia deformation sequence RARS Pontocerebellar hypoplasia type 6 RASA Basal cell carcinoma somatic RAX Microphthalmia isolated 3 RAX Cone-rod dystrophy 11 RB Bladder cancer somatic RB1CC Breast cancer somatic RBBP Jawad syndrome RBM TARP syndrome RBM Cardiomyopathy dilated 1DD RBM Alopecia neurologic defects and endocrinopathy syndrome RBM8A Thrombocytopenia-absent radius syndrome RBP Retinol dystrophy iris coloboma and comedogenic acne syndrome RBPJ Adams-Oliver syndrome 3 RD Leber congenital amaurosis 12 RDH Leber congenital amaurosis 13 RDH Fundus albipunctatus RDX Deafness autosomal recessive 24 RECQL Baller-Gerold syndrome REEP Neuronopathy distal hereditary motor type VB RELN Lissencephaly 2 (Norman-Roberts type) REN Hyperuricemic nephropathy familial juvenile 2 RET Central hypoventilation syndrome congenital RFT Congenital disorder of glycosylation type In

61 RFX Bare lymphocyte syndrome type II complementation group C RFX Martinez-Frias syndrome RFXANK MHC class II deficiency complementation group B RFXAP Bare lymphocyte syndrome type II complementation group D RGR Retinitis pigmentosa 44 RGS Bradyopsia RGS9BP Bradyopsia RHAG Anemia hemolytic Rh-null regulator type RHBDF Tylosis with esophageal cancer RHCE Rh-null disease RHO Night blindness congenital stationary autosomal dominant 1 RIMS Cone-rod dystrophy 7 RIN Macrocephaly alopecia cutis laxa and scoliosis RIPK Popliteal pterygium syndrome 2 lethal type RIT Noonan syndrome 8 RLBP Bothnia retinal dystrophy RMND Combined oxidative phosphorylation deficiency 11 RNASEH2A Aicardi-Goutieres syndrome 4 RNASEH2B Aicardi-Goutieres syndrome 2 RNASEH2C Aicardi-Goutieres syndrome 3 RNASEL Prostate cancer 1 RNASET Leukoencephalopathy cystic without megalencephaly RNF Macrocephaly macrosomia facial dysmorphism syndrome RNF Renal cell carcinoma RNF RIDDLE syndrome RNF Ataxia sensory 1 autosomal dominant RNF Recombination rate QTL 1 RNF Cerebellar ataxia and hypogonadotropic hypogonadism RNF Esophageal carcinoma somatic ROBO Vesicoureteral reflux 2 ROBO Gaze palsy horizontal with progressive scoliosis ROGDI Kohlschutter-Tonz syndrome ROM Retinitis pigmentosa 7 digenic

62 ROR Brachydactyly type B1 RP Retinitis pigmentosa 1 RP1L Occult macular dystrophy RP Retinitis pigmentosa 2 RP Retinitis pigmentosa 9 RPE Leber congenital amaurosis 2 RPGR Cone-rod dystrophy X-linked 1 RPGRIP Cone-rod dystrophy 13 RPGRIP1L COACH syndrome RPIA Ribose 5-phosphate isomerase deficiency RPL Diamond-Blackfan anemia 7 RPL Diamond-Blackfan anemia 11 RPL35A Diamond-Blackfan anemia 5 RPL Diamond-Blackfan anemia 6 RPS Diamond-Blackfan anemia 9 RPS Macrocytic anemia refractory due to 5q deletion somatic RPS Diamond-Blackfan anemia 1 RPS Diamond-blackfan anemia 3 RPS Diamond-Blackfan anemia 10 RPS6KA Coffin-Lowry syndrome RPS Diamond-Blackfan anemia 8 RRAS Ovarian carcinoma RRM2B Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) RS Retinoschisis RSPH4A Ciliary dyskinesia primary 11 RSPH Ciliary dyskinesia primary 12 RSPO Palmoplantar hyperkeratosis and true hermaphroditism RSPO Anonychia congenita RTEL Dyskeratosis congenita autosomal recessive 5 RTN Spastic paraplegia 12 autosomal dominant RTTN Polymicrogyria with seizures RUNX Leukemia acute myeloid RUNX Cleidocranial dysplasia

63 RYR Central core disease RYR Arrhythmogenic right ventricular dysplasia 2 SACS Spastic ataxia Charlevoix-Saguenay type SAG Oguchi disease-1 SALL Townes-Brocks branchiootorenal-like syndrome SALL Duane-radial ray syndrome SAMD Tumoral calcinosis familial normophosphatemic SAMHD Aicardi-Goutieres syndrome 5 SAR1B Chylomicron retention disease SARS Hyperuricemia pulmonary hypertension renal failure and alkalosis SART Porokeratosis disseminated superficial actinic 1 SAT Keratosis follicularis spinulosa decalvans SATB Cleft palate and mental retardation SBDS Shwachman-Bodian-Diamond syndrome SBF Charcot-Marie-Tooth disease type 4B2 SC5D SCARB Epilepsy progressive myoclonic 4 with or without renal failure SCARF Van den Ende-Gupta syndrome SCN1A Dravet syndrome SCN1B Brugada syndrome 5 SCN2A Epileptic encephalopathy early infantile 11 SCN3B Brugada syndrome 7 SCN4A Hyperkalemic periodic paralysis type 2 SCN4B Long QT syndrome-10 SCN5A Atrial fibrillation familial 10 SCN8A Cognitive impairment with or without cerebellar ataxia SCN9A Epilepsy generalized with febrile seizures plus type 7 SCNN1A Bronchiectasis with or without elevated sweat chloride 2 SCNN1B Bronchiectasis with or without elevated sweat chloride 1 SCNN1G Bronchiectasis with or without elevated sweat chloride 3 SCO SCO Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency 1 SCP Leukoencephalopathy with dystonia and motor neuropathy

64 SDCCAG Senior-Loken syndrome 7 SDHA Cardiomyopathy dilated 1GG SDHAF Mitochondrial complex II deficiency SDHAF Paragangliomas 2 SDHB Cowden syndrome 2 SDHC Gastrointestinal stromal tumor SDHD Carcinoid tumors intestinal SEC23A Craniolenticulosutural dysplasia SEC23B Anemia dyserythropoietic congenital type II SEC Polycystic liver disease SECISBP Thyroid hormone metabolism abnormal SEMA3E CHARGE syndrome SEMA4A Cone-rod dystrophy 10 sep Amyotrophy hereditary neuralgic sep Spermatogenic failure 10 SEPN Muscular dystrophy rigid spine 1 SEPSECS Pontocerebellar hypoplasia type 2D SERAC methylglutaconic aciduria with deafness encephalopathy and Leigh-like syndrome SERPINA Emphysema due to AAT deficiency SERPINA Cerebrovascular disease, occlusive SERPINB Deafness autosomal recessive 91 SERPINC Thrombophilia due to antithrombin III deficiency SERPINF Osteogenesis imperfecta type VI SERPING Complement component 4, partial deficiency of SERPING Angioedema, hereditary, types I and II SERPINH Osteogenesis imperfecta type X SERPINI Encephalopathy familial with neuroserpin inclusion bodies SETBP Schinzel-Giedion midface retraction syndrome SETX Amyotrophic lateral sclerosis 4 juvenile SF3B Myelodysplastic syndrome somatic SF3B Acrofacial dysostosis 1 Nager type SFTPA Pulmonary fibrosis idiopathic SFTPB Surfactant metabolism dysfunction pulmonary 1

65 SFTPC Surfactant metabolism dysfunction pulmonary 2 SGCA Muscular dystrophy limb-girdle type 2D SGCB Muscular dystrophy limb-girdle type 2E SGCD Cardiomyopathy dilated 1L SGCE Dystonia-11 myoclonic SGCG Muscular dystrophy limb-girdle type 2C SGSH Mucopolysaccharidisis type IIIA (Sanfilippo A) SH2B Erythrocytosis somatic SH2D1A Lymphoproliferative syndrome X-linked SH3BP Cherubism SH3PXD2B Frank-ter Haar syndrome SH3TC Charcot-Marie-Tooth disease type 4C SHANK Phelan-McDermid syndrome SHH Holoprosencephaly-3 SHOC Noonan-like syndrome with loose anagen hair SHROOM Stocco dos Santos X-linked mental retardation syndrome SI Sucrase-isomaltase deficiency congenital SIGMAR Amyotrophic lateral sclerosis 16 juvenile SIL Marinesco-Sjogren syndrome SIM Obesity severe SIX Brachiootic syndrome 3 SIX Holoprosencephaly-2 SIX Branchiootorenal syndrome 2 SIX Microphthalmia with cataract 2 SKI Shprintzen-Goldberg syndrome SKIV2L Trichohepatoenteric syndrome 2 SLC10A Bile acid malabsorption primary SLC12A Bartter syndrome type 1 SLC12A Gitelman syndrome SLC12A Agenesis of the corpus callosum with peripheral neuropathy SLC16A Erythrocyte lactate transporter defect SLC16A Cataract juvenile with microcornea and glucosuria SLC16A Allan-Herndon-Dudley syndrome

66 SLC17A Salla disease SLC17A Deafness autosomal dominant 25 SLC19A Thiamine-responsive megaloblastic anemia syndrome SLC19A Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) SLC1A Episodic ataxia type 6 SLC20A Basal ganglia cancification idiopathic 3 SLC22A Hypouricemia renal SLC22A Carnitine deficiency systemic primary SLC24A Night blindness congenital stationary (complete) 1D autosomal recessive SLC25A Combined D-2- and L-2-hydroxyglutaric aciduria SLC25A Hypomyelination global cerebral SLC25A Citrullinemia adult-onset type II SLC25A Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome SLC25A Microcephaly Amish type SLC25A Carnitine-acylcarnitine translocase deficiency SLC25A Epileptic encephalopathy early infantile 3 SLC25A Mitochondrial phosphate carrier deficiency SLC25A Anemia sideroblastic pyridoxine-refractory autosomal recessive SLC25A Cardiomyopathy familial hypertrophic SLC26A Achondrogenesis Ib SLC26A Chloride diarrhea congenital Finnish type SLC26A Deafness autosomal recessive 4 with enlarged vestibular aqueduct SLC26A Deafness autosomal recessive 61 SLC26A Spermatogenic failure 3 SLC27A Ichthyosis prematurity syndrome SLC29A Histiocytosis-lymphadenopathy plus syndrome SLC2A Dystonia 9 SLC2A Arterial tortuosity syndrome SLC2A Fanconi-Bickel syndrome SLC2A Hypouricemia renal 2 SLC30A Hypermanganesemia with dystonia polycythemia and cirrhosis SLC30A Zinc deficiency transient neonatal SLC33A Congenital cataracts hearing loss and neurodegeneration

67 SLC34A Fanconi renotubular syndrome 2 SLC34A Pulmonary alveolar microlithiasis SLC34A Hypophosphatemic rickets with hypercalciuria SLC35A Congenital disorder of glycosylation type IIf SLC35A Congenital disorder of glycosylation type IIm SLC35C Congenital disorder of glycosylation type IIc SLC35D Schneckenbecken dysplasia SLC36A Hyperglycinuria SLC37A Glycogen storage disease Ib SLC39A Spondylocheirodysplasia Ehlers-Danlos syndrome-like SLC39A Acrodermatitis enteropathica SLC3A Cystinuria SLC40A Hemochromatosis type 4 SLC45A Oculocutaneous albinism type IV SLC46A Folate malabsorption hereditary SLC4A SLC4A Corneal dystrophy Fuchs endothelial 4 SLC4A Renal tubular acidosis proximal with ocular abnormalities SLC52A Riboflavin deficiency SLC52A Brown-Vialetto-Van Laere syndrome 2 SLC52A Brown-Vialetto-Van Laere syndrome 1 SLC5A Glucose/galactose malabsorption SLC5A Renal glucosuria SLC5A Thyroid dyshormonogenesis 1 SLC5A Neuronopathy distal hereditary motor type VIIA SLC6A Hartnup disorder SLC6A Orthostatic intolerance SLC6A Hyperglycinuria SLC6A Parkinsonism-dystonia infantile SLC6A Hyperekplexia 3 SLC6A Cerebral creatine deficiency syndrome 1 SLC7A Lysinuric protein intolerance SLC7A Cystinuria

68 SLC9A3R Nephrolithiasis/osteoporosis hypophosphatemic 2 SLC9A Mental retardation X-linked syndromic Christianson type SLCO1B Hyperbilirubinemia Rotor type digenic SLCO1B Hyperbilirubinemia Rotor type digenic SLCO2A Hypertrophic osteoarthropathy primary autosomal recessive 2 SLITRK Tourette syndrome SLURP Meleda disease SLX Fanconi anemia complementation group P SMAD Loeys-Dietz syndrome type 3 SMAD SMAD Aortic valve disease 2 SMARCA Nicolaides-Baraitser syndrome SMARCA Mental retardation autosomal dominant 16 SMARCAD Adermatoglyphia SMARCAL Schimke immunoosseous dysplasia SMARCB Mental retardation autosomal dominant 15 SMC1A SMC SMCHD Fascioscapulohumeral muscular dystrophy 2 digenic SMOC Microphthalmia with limb anomalies SMOC Dentin dysplasia type I with microdontia and misshapen teeth SMPD Niemann-Pick disease type A SMPX Deafness X-linked 4 SMS Mental retardation X-linked Snyder-Robinson type SNAI Piebaldism SNAP Cerebral dysgenesis neuropathy ichthyosis and palmoplantar keratoderma syndrome SNCA Dementia Lewy body SNCB Dementia Lewy body SNIP Psychomotor retardation epilepsy and craniofacial dysmorphism SNRNP Retinitis pigmentosa 33 SNRPE Hypotrichosis 11 SNRPN Prader-Willi syndrome SNX Osteopetrosis autosomal recessive 8

69 SOBP Mental retardation anterior maxillary protrusion and strabismus SOD Amyotrophic lateral sclerosis 1 SOS Fibromatosis gingival SOST Craniodiaphyseal dysplasia autosomal dominant SOX PCWH syndrome SOX Vesicoureteral reflux 3 SOX Hypotrichosis-lymphedema-telangiectasia syndrome SOX Microphthalmia syndromic 3 SOX Mental retardation X-linked with isolated growth hormone deficiency SOX Acampomelic campomelic dysplasia SP Hepatic venoocclusive disease with immunodeficiency SP Osteogenesis imperfecta type XII SPAST Spastic paraplegia 4 autosomal dominant SPATA Spermatogenic failure 6 SPATA Leber congenital amaurosis 3 SPECC1L Facial clefting oblique 1 SPG Spastic paraplegia 11 autosomal recessive SPG Troyer syndrome SPINK Pancreatitis hereditary SPINK Atopy SPINT Diarrhea 3 secretory sodium congenital syndromic SPR Dystonia dopa-responsive due to sepiapterin reductase deficiency SPRED Legius syndrome SPRY Hypogonadotropic hypogonadism 17 with or without anosmia SPTA Elliptocytosis-2 SPTAN Epileptic encephalopathy early infantile 5 SPTB Anemia neonatal hemolytic SPTBN Spinocerebellar ataxia 5 SPTLC Neuropathy hereditary sensory and autonomic type IA SPTLC Neuropathy hereditary sensory and autonomic type IC SQSTM Paget disease of bone SRC Colon cancer SRCAP Floating-Harbor syndrome

70 SRD5A Pseudovaginal perineoscrotal hypospadias SRD5A Congenital disorder of glycosylation type Iq SRP Bone marrow failure familial SRPX Rolandic epilepsy mental retardation and speech dyspraxia SRY XX sex reversal 1 SSTR Somatostatin analog resistance to ST Ichthyosis with hypotrichosis ST3GAL Epileptic encephalopathy early infantile 15 ST3GAL Epileptic encephalopathy early infantile 15 ST3GAL Epileptic encephalopathy early infantile 15 ST3GAL STAR Lipoid adrenal hyperplasia STAT Candidiasis familial 7 STAT Hyper-IgE recurrent infection syndrome STAT5B Growth hormone insensitivity with immunodeficiency STIL Microcephaly 7 primary autosomal recessive STIM Immune dysfunction with T-cell inactivation due to calcium entry defect 2 STK Melanoma malignant STK T-cell immunodeficiency recurrent infections autoimmunity and cardiac malformations STOX Preeclampsia/eclampsia 4 STRA Microphthalmia isolated with coloboma 8 STRADA Polyhydramnios megalencephaly and symptomatic epilepsy STRC Deafness autosomal recessive 16 STS Ichthyosis X-linked STX Hemophagocytic lymphohistiocytosis familial 4 STX Pseudohypoparathyroidism type IB STXBP Epileptic encephalopathy early infantile 4 STXBP Hemophagocytic lymphohistiocytosis familial 5 SUCLA Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria) SUCLG Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) SUFU Medulloblastoma desmoplastic SUMF Multiple sulfatase deficiency SUMO Orofacial cleft 10

71 SUOX Sulfite oxidase deficiency SURF Leigh syndrome due to COX deficiency SYCP Spermatogenic failure 4 SYN Epilepsy X-linked with variable learning disabilities and behavior disorders SYNE Emery-Dreifuss muscular dystrophy 4 autosomal dominant SYNE Emery-Dreifuss muscular dystrophy 5 autosomal dominant SYNGAP Mental retardation autosomal dominant 5 SYP Mental retardation X-linked 96 SYT Spinocerebellar ataxia autosomal recessive 11 TAB Congenital heart defects nonsyndromic 2 TAC Hypogonadotropic hypogonadism 10 with or without anosmia TACR Hypogonadotropic hypogonadism 11 with or without anosmia TACSTD Corneal dystrophy gelatinous drop-like TAF Dystonia-Parkinsonism X-linked TAL Leukemia-1 TAL Leukemia-2 TALDO Transaldolase deficiency TAP Bare lymphocyte syndrome type I TAP Bare lymphocyte syndrome type I due to TAP2 deficiency TAPBP Bare lymphocyte syndrome type I TARDBP Amyotrophic lateral sclerosis 10 with or without FTD TAT Tyrosinemia type II TAZ Barth syndrome TBC1D Epileptic encephalopathy early infantile 16 TBCE Hypoparathyroidism-retardation-dysmorphism syndrome TBP Spinocerebellar ataxia 17 TBX Conotruncal anomaly face syndrome TBX Cousin syndrome TBX Adrenocorticotropic hormone deficiency TBX Atrial septal defect 4 TBX Asthma and nasal polyps TBX Cleft palate with ankyloglossia TBX Ulnar-mammary syndrome

72 TBX Small patella syndrome TBX Holt-Oram syndrome TBXAS Ghosal hematodiaphyseal syndrome TCAP Cardiomyopathy dilated 1N TCF Craniosynostosis 3 TCF Pitt-Hopkins syndrome TCIRG Osteopetrosis autosomal recessive 1 TCN Transcobalamin II deficiency TCOF Treacher Collins syndrome 1 TCTN TCTN Meckel syndrome 8 TCTN Joubert syndrome 18 TDGF TDP Spinocerebellar ataxia autosomal recessive with axonal neuropathy TDRD Cataract 36 TEAD Sveinsson choreoretinal atrophy TECPR Spastic paraplegia 49 autosomal recessive TECR Mental retardation autosomal recessive 14 TECTA Deafness autosomal dominant 8/12 TEK Venous malformations multiple cutaneous and mucosal TERC Dyskeratosis congenita autosomal dominant 1 TET Myelodysplastic syndrome somatic TF Atransferrinemia TFAP2A Branchiooculofacial syndrome TFAP2B Char syndrome TFE Renal cell carcinoma papillary 1 TFG Hereditary motor and sensory neuropathy proximal type TFR Hemochromatosis type 3 TG Thyroid dyshormonogenesis 3 TGFB Camurati-Engelmann disease TGFB Loeys-Dietz syndrome type 4 TGFB Arrhythmogenic right ventricular dysplasia 1 TGFBI Corneal dystrophy Avellino type

73 TGFBR Loeys-Dietz syndrome type 1A TGFBR Colorectal cancer hereditary nonpolyposis type 6 TGIF TGM Ichthyosis congenital autosomal recessive 1 TGM Peeling skin syndrome acral type TGM Spinocerebellar ataxia 35 TH Segawa syndrome recessive THAP Dystonia 6 torsion THBD Thrombophilia due to thrombomodulin defect THPO Thrombocythemia 1 THRA Hypothyroidism congenital nongoitrous 6 THRB Thyroid hormone resistance TIA Welander distal myopathy TIMM8A Deafness X-linked 1 TIMP Sorsby fundus dystrophy TINF Dyskeratosis congenita autosomal dominant 3 TJP Hypercholanemia familial TK Mitochondrial DNA depletion syndrome 2 (myopathic type) TLL Atrial septal defect 6 TLR Endotoxin hyporesponsiveness TMC Deafness autosomal dominant 36 TMC Epidermodysplasia verruciformis TMC Epidermodysplasia verruciformis TMCO Craniofacial dysmorphism skeletal anomalies and mental retardation syndrome TMEM126A Optic atrophy-7 TMEM Joubert syndrome 16 TMEM Congenital disorder of glycosylation type IIk TMEM Joubert syndrome 2 TMEM Joubert syndrome 20 TMEM Joubert syndrome 14 TMEM38B Osteogenesis imperfecta type XIV TMEM Arrhythmogenic right ventricular dysplasia 5 TMEM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 10

74 TMEM COACH syndrome TMEM Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 TMIE Deafness autosomal recessive 6 TMLHE Epsilon-trimethyllysine hydroxylase deficiency TMPO Cardiomyopathy dilated 1T TMPRSS Deafness autosomal recessive 8/10 TMPRSS Iron-refractory iron deficiency anemia TNFRSF10B Squamous cell carcinoma head and neck TNFRSF11A Osteolysis familial expansile TNFRSF11B Paget disease juvenile TNFRSF13B Immunodeficiency common variable 2 TNFRSF13C Immunodeficiency common variable 4 TNFRSF1A Periodic fever familial TNFSF Osteopetrosis autosomal recessive 2 TNNC Cardiomyopathy dilated 1Z TNNI Arthrogryposis multiplex congenita distal type 2B TNNI Cardiomyopathy dilated 1FF TNNT Nemaline myopathy 5 Amish type TNNT Cardiomyopathy dilated 1D TNNT Arthyrgryposis distal type 2B TNXB Ehlers-Danlos syndrome autosomal dominant hypermobility type TOP DNA topoisomerase I TOP2A DNA topoisomerase II resistance to inhibition of TOPORS Retinitis pigmentosa 31 TP Adrenal cortical carcinoma TP ADULT syndrome TPI TPK Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) TPM Cardiomyopathy dilated 1Y TPM Arthrogryposis multiplex congenita distal type 1 TPM CAP myopathy 1 TPMT mercaptopurine sensitivity TPO Thyroid dyshormonogenesis 2A

75 TPP Ceroid lipofuscinosis neuronal 2 TPRN Deafness autosomal recessive 79 TRAPPC Muscular dystrophy limb-girdle type 2S TRAPPC Spondyloepiphyseal dysplasia tarda TRAPPC Mental retardation autosomal recessive 13 TREM Nasu-Hakola disease TREX Aicardi-Goutieres syndrome 1 dominant and recessive TRHR Thyrotropin-releasing hormone resistance TRIM Thyroid carcinoma papillary TRIM Bardet-Biedl syndrome 11 TRIM Thyroid carcinoma papillary TRIM Mulibrey nanism TRIOBP Deafness autosomal recessive 28 TRIP Achondrogenesis type IA TRMU Liver failure transient infantile TRPA Episodic pain syndrome familial TRPC Glomerulosclerosis focal segmental 2 TRPM Night blindness congenital stationary (complete) 1C autosomal recessive TRPM Progressive familial heart block type IB TRPM Hypomagnesemia 1 intestinal TRPS Trichorhinophalangeal syndrome type I TRPV Olmsted syndrome TRPV Brachyolmia type 3 TSC Focal cortical dysplasia Taylor balloon cell type TSC Lymphangioleiomyomatosis somatic TSEN Pontocerebellar hypoplasia type 2B TSEN Pontocerebellar hypoplasia type 2C TSEN Pontocerebellar hypoplasia type 2A TSFM Combined oxidative phosphorylation deficiency 3 TSG Breast cancer somatic TSHB Hypothryoidism congenital nongoitrous 4 TSHR Hyperthyroidism familial gestational TSHZ Aural atresia congenital

76 TSPAN Exudative vitreoretinopathy 5 TSPAN Mental retardation X-linked 58 TSPEAR Deafness autosomal recessive 98 TSPYL Sudden infant death with dysgenesis of the testes syndrome TTBK Spinocerebellar ataxia 11 TTC Mitochondrial complex III deficiency nuclear type 2 TTC21B Asphyxiating thoracic dystrophy 4 TTC Trichohepatoenteric syndrome 1 TTC7A Intestinal atresia multiple TTC Bardet-Biedl syndrome 8 TTN Cardiomyopathy dilated 1G TTPA Ataxia with isolated vitamin E deficiency TTR Amyloidosis hereditary transthyretin-related TUBA1A Lissencephaly 3 TUBA Polymicrogyria with optic nerve hypoplasia TUBB Macrothrombocytopenia autosomal dominant TUBB1-related TUBB2B Polymicrogyria symmetric or asymmetric TUBB Cortical dysplasia complex with other brain malformations TUBB4A Leukodystrophy hypomyelinating 6 TUBGCP Microcephaly and chorioretinopathy with or without mental retardation TUFM Combined oxidative phosphorylation deficiency 4 TULP Leber congenital amaurosis 15 TUSC Mental retardation autosomal recessive 7 TWIST Craniosynostosis type 1 TWIST Focal facial dermal dysplasia 3 Setleis type TYK Tyrosine kinase 2 deficiency TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type) TYR Albinism oculocutaneous type IA TYROBP Nasu-Hakola disease TYRP Albinism oculocutaneous type III UBA Spinal muscular atrophy X-linked 2 infantile UBE2A Mental retardation X-linked syndromic Nascimento-type UBE3A Angelman syndrome

77 UBE3B Blepharophimosis-ptosis-intellectual disability syndrome UBIAD Corneal dystrophy Schnyder type UBQLN Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia UBR Johanson-Blizzard syndrome UGT1A Crigler-Najjar syndrome type I UMOD Glomerulocystic kidney disease with hyperuricemia and isosthenuria UMPS Orotic aciduria UNC UNC13D Hemophagocytic lymphohistiocytosis familial 3 UNC93B Herpes simplex encephalitis susceptibility to 1 UNG Immunodeficiency with hyper IgM type 5 UPB Beta-ureidopropionase deficiency UPF3B Mental retardation X-linked syndromic 14 UPK3A Renal adysplasia UQCRB Mitochondrial complex III deficiency nuclear type 3 UQCRC Mitochondrial complex III deficiency nuclear type 5 UQCRQ Mitochondrial complex III deficiency nuclear type 4 UROC Urocanase deficiency UROD Porphyria cutanea tarda UROS Porphyria congenital erythropoietic USB Poikiloderma with neutropenia USH1C Deafness autosomal recessive 18A USH1G Usher syndrome, type 1G USH2A Retinitis pigmentosa 39 USP9Y Spermatogenic failure Y-linked 2 UVSSA UV-sensitive syndrome 3 VANGL Caudal regression syndrome VAPB Amyotrophic lateral sclerosis 8 VAX Microphthalmia syndromic 11 VCAN Wagner syndrome 1 VCL Cardiomyopathy dilated 1W VCP Amyotrophic lateral sclerosis 14 with or without frontotemporal dementia VDR Rickets vitamin D-resistant type IIA

78 VHL Erythrocytosis familial 2 VIM Cataract 30 pulverulent VIPAS Arthrogryposis renal dysfunction and cholestasis 2 VKORC Vitamin K-dependent clotting factors combined deficiency of 2 VLDLR Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 VPS13A Choreoacanthocytosis VPS13B Cohen syndrome VPS33B Arthrogryposis renal dysfunction and cholestasis 1 VPS Parkinson disease 17 VPS37A Spastic paraplegia 53 autosomal recessive VRK Pontocerebellar hypoplasia type 1A VSX Corneal dystrophy hereditary polymorphous posterior VWF von Willebrand disease type 1 WAS Neutropenia severe congenital X-linked WDPCP Bardet-Biedl syndrome 15 WDR Hypogonadotropic hypogonadism 14 with or without anosmia WDR Asphyxiating thoracic dystrophy 5 WDR Cranioectodermal dysplasia 2 WDR Glaucoma 1 open angle G WDR Neurodegeneration with brain iron accululation 5 WDR Microcephaly 2 primary autosomal recessive with or without cortical malformations WDR Amelogenesis imperfecta hypomaturation type IIA3 WDR Cerebellar ataxia mental retardation and dysequilibrium syndrome 2 WFS Deafness autosomal dominant 6/14/38 WHSC1L Leukemia acute myeloid WIPF Wiskott-Aldrich syndrome 2 WISP Arthropathy progressive pseudorheumatoid of childhood WNK Neuropathy hereditary sensory and autonomic type II WNK Pseudohypoaldosteronism type IIB WNT Osteogenesis imperfecta type XV WNT10A Odontoonychodermal dysplasia WNT10B Split-hand/foot malformation 6 WNT Tetra-amelia autosomal recessive

79 WNT Mullerian aplasia and hyperandrogenism WNT5A Robinow syndrome autosomal dominant WNT7A Fuhrmann syndrome WRAP Dyskeratosis congenita autosomal recessive 3 WRN WT Denys-Drash syndrome WWOX Esophageal squamous cell carcinoma XDH Xanthinuria type I XIAP Lymphoproliferative syndrome X-linked 2 XK McLeod syndrome with or without chronic granulomatous disease XPA Xeroderma pigmentosum group A XPC Xeroderma pigmentosum group C XPNPEP Nephronophthisis-like nephropathy 1 YARS Charcot-Marie-Tooth disease dominant intermediate C YARS Myopathy lactic acidosis and sideroblastic anemia 2 ZAP Selective T-cell defect ZBTB Leukemia acute promyelocytic ZBTB Immunodeficiency-centromeric instability-facial anomalies syndrome-2 ZC4H Wieacker-Wolf syndrome ZDHHC Mental retardation X-linked 91 ZDHHC Mental retardation X-linked syndromic Raymond type ZEB Corneal dystrophy Fuchs endothelial 6 ZEB Mowat-Wilson syndrome ZFP Diabetes mellitus transient neonatal 1 ZFPM Diaphragmatic hernia 3 ZFYVE Spastic paraplegia 15 autosomal recessive ZFYVE Spastic paraplegia 33 autosomal dominant ZIC Holoprosencephaly-5 ZIC Congenital heart defects nonsyndromic 1 X-linked ZMPSTE Mandibuloacral dysplasia with type B lipodystrophy ZNF Microcephaly 10 primary autosomal recessive ZNF Mental retardation X-linked 89 ZNF Joubert syndrome 19

80 ZNF Brittle cornea syndrome ZNF Retinitis pigmentosa 58 ZNF Spinocerebellar ataxia autosomal recessive 5 ZNF Myopia 21 autosomal dominant ZNF Mental retardation X-linked 92 ZNF Mental retardation X-linked 97 ZNF Seborrhea-like dermatitis with psoriasiform elements ZNF Mental retardation X-linked 45 Gene symbols used follow HGCN guidelines Genomics 79(4): (2002) updated October 2013 Depth describes the average number of reads seen across 50 exomes Coverage describes the average coverage of a gene across 50 exomes in percentiles OMIM release used for OMIM disease identifiers and descriptions : 15 october 2013 Ad 1. OMIM identifier 200 signifies a gene without a current OMIM association Ad 2. OMIM phenotype descriptions between {} signify risk factors