Gene Browser

The Gene Browser offers a comprehensive overview of genes associated with recessive disorders in the Arab population, utilizing data sourced from a cohort of Emirati individuals. It presents critical metrics such as the Allele frequency, allele counts, disease associations, and their inclusion in national screening panels. This platform enables users to search, filter, and compare genes based on carrier rates, the risks associated with first cousin relationships, or in alphabetical order, thereby serving as an invaluable resource for analyzing gene-level disease burden and enhancing the design of screening programmes.

Gene	Disorder	Allele Count	Allele Frequency	Carrier Frequency	Max At-Risk Couples rate	In Panel	View In Ensembl	View In UCSC
ABAT	GABA-transaminase deficiency	1	0.00041876	0.00083717	0.000000701	✗	Link	Link
ABCA12	Ichthyosis	16	0.00670017	0.0133106	0.000177171	✓	Link	Link
ABCA4	Retinal dystrophy	53	0.0221943	0.0434034	0.00188386	✓	Link	Link
ABCC6	Pseudoxanthoma elasticum	11	0.00460637	0.00917029	0.0000841	✓	Link	Link
ABCC8	Hyperinsulinism	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
ABCG8	Sitosterolemia 1	10	0.0041876	0.00834014	0.0000696	✓	Link	Link
ACAD8	Isobutyryl-CoA dehydrogenase deficiency	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
ACADM	Acyl-CoA dehydrogenase	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
ACADS	Short-chain acyl-CoA-dehydrogenase deficiency	5	0.0020938	0.00417884	0.0000175	✓	Link	Link
ACADSB	Inborn error of metabolism	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
ACADVL	Very long chain acyl-CoA dehydrogenase deficiency	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
ACO2	Optic atrophy 9	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
ADA	Adenosine deaminase deficiency	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
ADA2	Sneddon syndrome	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
ADAMTS13	Reduced expression	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
ADAMTS17	Weill-Marchesani syndrome	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
ADAMTS18	Microcornea, myopic chorioretinal atrophy and telecanthus	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
ADGRV1	Deafness, non-syndromic, autosomal recessive	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
AGK	Sengers syndrome	6	0.00251256	0.0050125	0.0000251	✓	Link	Link
AGL	Glycogen storage disease 3	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
AGRN	Congenital myasthenic syndrome with distal muscle weakness & atrophy	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
AGXT	Hyperoxaluria	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
AHI1	Joubert syndrome	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
AIPL1	Leber congenital amaurosis IV	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
AIRE	Autoimmune polyendocrinopathy syndrome	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
AKR1D1	Bile acid synthesis defect	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
ALDH3A2	Sjogren-Larsson syndrome	15	0.00628141	0.0124839	0.000155848	✓	Link	Link
ALDH7A1	Epilepsy	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
ALDOB	Fructose intolerance	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
ALG1	Congenital disorder of glycosylation	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
ALG2	Congenital disorder of glycosylation 1i	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
ALG3	Congenital disorder of glycosylation	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
ALG8	Congenital disorder of glycosylation 1h	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
ALMS1	Alstrom syndrome	6	0.00251256	0.0050125	0.0000251	✓	Link	Link
ALPL	Odontohypophosphatasia	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
ANO10	Cerebellar ataxia 3	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
ANO5	Muscular dystrophy, limb girdle 2L	5	0.0020938	0.00417884	0.0000175	✓	Link	Link
ANTXR2	Hyaline fibromatosis syndrome	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
AP4S1	Spastic paraplegia 52	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
APTX	Ataxia	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
ARSA	Metachromatic leukodystrophy	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
ARSB	Mucopolysaccharidosis type VI (Maroteaux-Lamy)	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
ASAH1	Spinal muscular atrophy with progressive myoclonic epilepsy	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
ASL	Argininosuccinic aciduria	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
ASPM	Microcephaly 5	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
ATM	Ataxia-telangiectasia	5	0.0020938	0.00417884	0.0000175	✓	Link	Link
ATP13A2	Kufor-Rakeb syndrome	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
ATP2A1	Autism spectrum disorder	5	0.0020938	0.00417884	0.0000175	✓	Link	Link
ATP7B	Wilson disease	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
ATP9A	Neurodevelopmental disorder with poor growth and behavioral abnormalities	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
ATR	Pulmonary fibrosis / aplastic anaemia	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
AVIL	Nephrotic syndrome	7	0.00293132	0.00584546	0.0000342	✓	Link	Link
B3GALNT2	Muscular dystrophy-dystroglycanopathy	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
B3GALT6	Spondyloepimetaphyseal dysplasia with joint laxity	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
B3GAT3	Multiple joint dislocations	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
B3GLCT	Peters-Plus syndrome	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
B4GALNT1	Spastic paraplegia	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
BBS5	Phenotype modifier	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
BBS7	Bardet-Biedl syndrome, modifier of	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
BBS9	Retinitis pigmentosa	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
BCHE	Butyrylcholinesterase deficiency	29	0.0121441	0.0239932	0.000575671	✓	Link	Link
BCS1L	GRACILE syndrome	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
BLM	Breast cancer	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
BTD	Biotinidase deficiency	17	0.00711893	0.0141365	0.000199841	✓	Link	Link
C2CD3	Autism spectrum disorder	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
C5	Complement C5 deficiency	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
C6	Inflammatory bowel disease, very early onset	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
C7	Alzheimer disease in Han Chinese, association with	6	0.00251256	0.0050125	0.0000251	✓	Link	Link
C8A	Complement C8 alpha-gamma deficiency	6	0.00251256	0.0050125	0.0000251	✓	Link	Link
C8B	Primary immunodeficiency disease	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
CA5A	Carbonic anhydrase VA deficiency	5	0.0020938	0.00417884	0.0000175	✓	Link	Link
CABP4	Retinal dystrophy	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
CAPN3	Muscular dystrophy, limb girdle 2A	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
CBS	Homocystinuria	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
CCDC103	Primary ciliary dyskinesia	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
CCDC39	Primary ciliary dyskinesia	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
CCDC40	Primary ciliary dyskinesia	8	0.00335008	0.00667772	0.0000446	✓	Link	Link
CCN6	Pseudorheumatoid dysplasia, progressive	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
CCNO	Ciliary dyskinesia	7	0.00293132	0.00584546	0.0000342	✓	Link	Link
CD36	Platelet glycoprotein IV deficiency	41	0.0171692	0.0337488	0.00113898	✓	Link	Link
CDH23	Usher syndrome	11	0.00460637	0.00917029	0.0000841	✓	Link	Link
CDH3	Hypotrichosis	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
CDK5RAP2	Autism spectrum disorder	7	0.00293132	0.00584546	0.0000342	✓	Link	Link
CENPJ	Intellectual disability	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
CEP152	Seckel syndrome	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
CEP290	Leber congenital amaurosis 10	5	0.0020938	0.00417884	0.0000175	✓	Link	Link
CERS3	Ichthyosis	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
CFAP410	Retinitis pigmentosa	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
CFAP53	Dextrocardia and situs disturbances	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
CFTR	Cystic fibrosis	8	0.00335008	0.00667772	0.0000446	✓	Link	Link
CHRNE	Congenital myasthenic syndrome	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
CHRNG	Multiple pterygium syndrome	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
CLCNKB	Bartter syndrome	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
CLMP	Congenital short-bowel syndrome	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
CLN3	Retinal dystrophy, early-onset	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
CNGA3	Achromatopsia 2	6	0.00251256	0.0050125	0.0000251	✓	Link	Link
CNGB3	Achromatopsia 3	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
CNTN2	Hypogonadotropic hypogonadism	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
CNTNAP1	Hypomyelinating neuropathy	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
COG7	Schizophrenia	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
COL17A1	Epithelial recurrent erosion dystrophy	7	0.00293132	0.00584546	0.0000342	✓	Link	Link
COL18A1	Knobloch syndrome	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
COL27A1	Steel syndrome	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
COL6A2	Bethlem myopathy 1	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
COL7A1	EBD	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
COQ9	Primary coenzyme Q10 deficiency, neonatal onset	8	0.00335008	0.00667772	0.0000446	✓	Link	Link
CORO1A	Haemophagocytic lymphohistiocytosis	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
COX15	Hypertrophic cardiomyopathy, early onset	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
COX20	Dysarthria, ataxia and sensory neuropathy	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
CPLANE1	Joubert syndrome	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
CRB1	Leber congenital amaurosis 8	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
CRB2	Congenital nephrosis, Finnish type-like, with cerebral ventriculomegaly & raised alpha-fetoprotein	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
CRIPT	Short stature, microcephaly & dysmorphic facies	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
CTNS	Cystinosis	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
CTSK	Pycnodysostosis	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
CUBN	Albuminuria, association with	52	0.0217755	0.0426027	0.00181499	✓	Link	Link
CUL7	3-M syndrome 1	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
CYP11B1	Steroid-11 beta-hydroxylase deficiency	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
CYP1B1	Glaucoma 3A	27	0.0113065	0.0223574	0.000499853	✓	Link	Link
CYP21A2	Hyperandrogenism	135	0.0565327	0.106673	0.0113792	✓	Link	Link
CYP27A1	Cerebrotendinous xanthomatosis	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
CYP4V2	Retinitis pigmentosa	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
DARS2	Leukoencephalopathy with brainstem & spinal cord involvement	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
DGAT1	Diarrhea	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
DGUOK	Portal hypertension	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
DHODH	Miller syndrome	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
DLL3	Congenital scoliosis	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
DNAAF1	Neural tube defects	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
DNAH11	Ciliary dyskinesia	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
DNAH5	Primary ciliary dyskinesia	6	0.00251256	0.0050125	0.0000251	✓	Link	Link
DNAH9	Situs inversus and male infertility	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
DNASE1L3	Systemic lupus erythematosus 16	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
DOCK6	Adams-Oliver syndrome 2	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
DOCK8	Immunodeficiency, primary	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
DOK7	Fetal akinesia deformation sequence 3	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
DONSON	Microcephaly	23	0.00963149	0.0190775	0.000363949	✓	Link	Link
DPAGT1	Congenital disorder of glycosylation 1	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
DPYD	Dihydropyrimidine dehydrogenase deficiency	5	0.0020938	0.00417884	0.0000175	✓	Link	Link
DPYS	Dihydropyrimidinase deficiency	8	0.00335008	0.00667772	0.0000446	✓	Link	Link
DSP	Cardiomyopathy, arrhythmogenic right ventricular	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
DUOX2	Hypothyroidism	5	0.0020938	0.00417884	0.0000175	✓	Link	Link
DYNC2H1	Asphyxiating thoracic dystrophy	5	0.0020938	0.00417884	0.0000175	✓	Link	Link
DYNC2I1	Short-rib thoracic dysplasia 8 with or without polydactyly	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
ECEL1	Arthrogryposis	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
ECHS1	Short-chain enoyl-CoA hydratase deficiency	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
EDARADD	Ectodermal dysplasia 11A	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
ELP1	Autism spectrum disorder	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
EPG5	Vici syndrome	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
ERCC2	Basal cell carcinoma, reduced risk, association with	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
ESPN	Hearing loss	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
EVC2	Ellis-van Creveld syndrome	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
EXOSC3	Pontocerebellar hypoplasia 1	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
EXPH5	Epidermolysis bullosa, junctional	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
EYS	Retinitis pigmentosa	15	0.00628141	0.0124839	0.000155848	✓	Link	Link
F11	Factor XI deficiency	5	0.0020938	0.00417884	0.0000175	✓	Link	Link
F2	Thrombophilia 1 due to thrombin defect	22	0.00921273	0.0182557	0.000333271	✓	Link	Link
F7	Factor VII deficiency	18	0.00753769	0.0149617	0.000223854	✓	Link	Link
FA2H	Spastic paraplegia 35	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
FAH	Tyrosinemia	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
FAM161A	Retinitis pigmentosa	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
FANCC	Fanconi anemia	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
FBP1	Fructose-1,6-bisphosphatase deficiency	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
FBXO7	Parkinsonism, juvenile	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
FH	Multiple leiomyomatosis	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
FIG4	Amyotrophic lateral sclerosis, sporadic	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
FLVCR1	Posterior column ataxia & retinitis pigmentosa	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
FOXRED1	Complex I deficiency	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
FRAS1	Congenital anomalies of the kidney and urinary tract	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
FRRS1L	Intellectual disability, developmental delay & seizures	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
FTCD	Formiminoglutamic acidura	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
G6PC1	Glycogen storage disease Ia	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
GAA	Glycogen storage disease II	10	0.0041876	0.00834014	0.0000696	✓	Link	Link
GALC	Krabbe disease	7	0.00293132	0.00584546	0.0000342	✓	Link	Link
GALK1	Galactokinase deficiency, presenile cataract	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
GALNS	Mucopolysaccharidosis IVA	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
GALNT3	Tumoral calcinosis	16	0.00670017	0.0133106	0.000177171	✓	Link	Link
GAMT	Cerebral creatine deficiency syndrome 2	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
GBA	Gaucher disease	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
GBA2	Spastic paraplegia	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
GBE1	Glycogen storage disease 4	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
GCDH	Glutaric acidaemia 1	6	0.00251256	0.0050125	0.0000251	✓	Link	Link
GDAP1	Charcot-Marie-Tooth disease	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
GFPT1	Congenital myasthenic syndrome	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
GHR	Hypogonadotropic hypogonadism	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
GIPC3	Hearing loss, non-syndromic	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
GJB2	Keratoderma	30	0.0125628	0.02481	0.000615535	✓	Link	Link
GLB1	GM1-gangliosidosis	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
GLDC	Glycine encephalopathy	5	0.0020938	0.00417884	0.0000175	✓	Link	Link
GNE	GNE myopathy	5	0.0020938	0.00417884	0.0000175	✓	Link	Link
GNPTAB	Mucolipidosis III alpha/beta	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
GNRHR	Hypogonadotropic hypogonadism	7	0.00293132	0.00584546	0.0000342	✓	Link	Link
GP6	Absence of collagen-induced platelet activation	5	0.0020938	0.00417884	0.0000175	✓	Link	Link
GPHN	Hyperekplexia	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
GPR179	Autism spectrum disorder	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
GRHPR	Hyperoxaluria II	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
GRM6	Congenital stationary night blindness	5	0.0020938	0.00417884	0.0000175	✓	Link	Link
GYS2	Glycogen storage disease 0	7	0.00293132	0.00584546	0.0000342	✓	Link	Link
HADHB	Mitochondrial trifunctional protein deficiency	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
HBA1	Haemoglobin variant	34	0.0142379	0.0280703	0.000787941	✓	Link	Link
HBA2	Haemoglobin variant	22	0.00921273	0.0182557	0.000333271	✓	Link	Link
HBB	Haemoglobin variant	121	0.05067	0.0962051	0.00925543	✓	Link	Link
HBD	Haemoglobin variant	31	0.0129816	0.0256261	0.000656697	✓	Link	Link
HEXA	[Hex A pseudodeficiency]	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
HGD	Alkaptonuria	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
HGSNAT	Mucopolysaccharidosis type IIIC (Sanfilippo C)	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
HPS3	Hermansky-Pudlak syndrome 3	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
HSD11B2	Apparent mineralocorticoid excess	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
HSD17B3	Pseudohermaphroditism, male	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
HSD17B4	D-bifunctional protein deficiency	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
HSPG2	Scoliosis, idiopathic, association with	14	0.00586265	0.0116566	0.000135875	✓	Link	Link
IDUA	Hurler syndrome	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
IFT140	Leber congenital amaurosis	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
IL12RB1	Mycobacterial infection	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
IL17RA	IL-17RA deficiency with bacterial and fungal infections	5	0.0020938	0.00417884	0.0000175	✓	Link	Link
INPP5E	Joubert syndrome 1	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
IQCB1	Leber congenital amaurosis	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
ITGB2	Leukocyte adhesion deficiency	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
ITGB3	Bleeding disorder	15	0.00628141	0.0124839	0.000155848	✓	Link	Link
ITGB4	Hirschsprung disease	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
IVD	Isovaleric acidemia	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
IYD	Hypothyroidism	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
JAK3	Immunodeficiency, severe combined	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
KCNJ1	Bartter syndrome	5	0.0020938	0.00417884	0.0000175	✓	Link	Link
KCNV2	Retinal cone dystrophy 3B	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
KIAA0586	Joubert syndrome	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
KIF1C	Cerebellar ataxia	10	0.0041876	0.00834014	0.0000696	✓	Link	Link
KIF7	Macrocephaly, multiple epiphyseal dysplasia & facial features	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
KLHL7	Retinitis pigmentosa 42	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
LAMA1	Schizophrenia	9	0.00376884	0.00750928	0.0000564	✓	Link	Link
LAMA3	Epidermolysis bullosa, junctional	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
LAMB2	Pierson syndrome/ nephrotic syndrome type 5	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
LAMC2	Epidermolysis bullosa, Herlitz	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
LDLR	LDL cholesterol level QTL2	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
LHX3	Hypopituitarism and sensorineural hearing loss	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
LIFR	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
LIG4	Marfan syndrome, early-onset	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
LINS1	Intellectual developmental disorder	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
LMAN1	Factor V and factor VIII deficiency, combined	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
LMBR1	Triphalangeal thumbs and preaxial polydactyly	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
LMNA	Mandibuloacral dysplasia	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
LOXHD1	Deafness	6	0.00251256	0.0050125	0.0000251	✓	Link	Link
LOXL3	Myopia 28	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
LPL	Hyperlipidaemia	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
LRPPRC	Infantile mitochondrial disease, lethal	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
LRRK1	Osteosclerotic metaphyseal dysplasia	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
LYST	Chediak-Higashi syndrome	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
MALT1	Immunodeficiency, combined	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
MAPKBP1	Nephronophthisis, late onset	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
MCIDAS	Ciliary dyskinesia	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
MEFV	Neutrophilic dermatosis	73	0.0305695	0.05927	0.00351294	✓	Link	Link
MKS1	Parkinson disease, early onset	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
MMACHC	Methylmalonic aciduria and homocystinuria	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
MMADHC	Homocystinuria, cblD type	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
MMUT	Methylmalonic aciduria	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
MOCOS	Thiopurine-induced toxicity	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
MPL	Thrombocytosis, association with	9	0.00376884	0.00750928	0.0000564	✓	Link	Link
MPLKIP	Trichothiodystrophy, nonphotosensitive	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
MPV17	Mitochondrial DNA depletion syndrome, hepatocerebral	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
MRE11	Breast cancer	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
MTRR	Cleft lip with or without cleft palate	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
MVK	Hyper-IgD syndrome	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
MYO15A	Deafness, non-syndromic, autosomal recessive	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
MYO5B	Diarrhea 2	6	0.00251256	0.0050125	0.0000251	✓	Link	Link
NBAS	Bone, connective tissue, liver, immune system & retinal defects	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
NBN	Breast cancer, male	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
NCF1	Chronic granulomatous disease	8	0.00335008	0.00667772	0.0000446	✓	Link	Link
NCF2	Chronic granulomatous disease	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
NDUFAF5	Leigh syndrome/Mitochondrial Complex I deficiency	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
NDUFS1	Neurodevelopmental disorder	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
NEK1	Amyotrophic lateral sclerosis	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
NEK8	Renal disease with hepatic and cardiac anomalies	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
NKX6-2	Spastic ataxia 8	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
NPHP1	Nephronophthisis 1	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
NPHP4	Nephronophthisis 4	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
NPHS1	Nephrotic syndrome	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
NR2E3	Retinitis pigmentosa 37	7	0.00293132	0.00584546	0.0000342	✓	Link	Link
NUBPL	Complex I deficiency	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
OBSL1	Cardiomyopathy, dilated	7	0.00293132	0.00584546	0.0000342	✓	Link	Link
OCLN	Pseudo-TORCH syndrome 1	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
OPA1	Optic atrophy plus syndrome	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
ORC4	Lymphoproliferative disorder	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
ORC6	Meier-Gorlin syndrome	6	0.00251256	0.0050125	0.0000251	✓	Link	Link
OTOA	Hearing loss	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
OTOF	Deafness, non-syndromic	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
OTOG	Hearing loss, sensorineural	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
OTOGL	Hearing impairment	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
PAH	Hyperphenylalaninemia	40	0.0167504	0.0329397	0.00108502	✓	Link	Link
PANK2	Neurodegeneration with brain iron accumulation 1	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
PC	Hyperinsulinism	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
PCARE	Retinitis pigmentosa 54	8	0.00335008	0.00667772	0.0000446	✓	Link	Link
PCCB	Propionicacidemia	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
PCDH15	Usher syndrome 1	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
PDE6B	Retinitis pigmentosa, pericentral	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
PDP1	Tourette syndrome	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
PEPD	Prolidase deficiency	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
PEX1	Zellweger syndrome	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
PEX12	Peroxisome biogenesis disorder 3B	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
PEX16	Peroxisome biogenesis disorder 8B	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
PEX26	Refsum disease, infantile	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
PEX6	Peroxisome biogenesis disorder 4B	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
PGM1	Congenital disorder of glycosylation	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
PGM3	Fetal alcohol syndrome, predisposition to	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
PHC1	Primary microcephaly	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
PHGDH	Neu-Laxova syndrome 1	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
PIGO	PIGO deficiency	7	0.00293132	0.00584546	0.0000342	✓	Link	Link
PJVK	Deafness	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
PKHD1	Polycystic kidney disease 4	5	0.0020938	0.00417884	0.0000175	✓	Link	Link
PKLR	Pyruvate kinase deficiency	18	0.00753769	0.0149617	0.000223854	✓	Link	Link
PLA2G6	Infantile neuroaxonal dystrophy	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
PLEKHG5	Myopathy	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
PLOD1	Ehlers-Danlos syndrome	5	0.0020938	0.00417884	0.0000175	✓	Link	Link
PMM2	Congenital disorder of glycosylation 1a	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
PNP	Nucleoside phosphorylase deficiency	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
PNPO	Pyridoxamine 5'-phosphate oxidase deficiency	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
POLG	Mitochondrial recessive ataxia syndrome	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
POR	Altered function	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
PRG4	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
PRICKLE1	Neural tube defects	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
PROC	Thrombophilia 3 due to protein C deficiency	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
PRUNE1	Hypotonia, microcephaly and global developmental delay	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
PSAP	Combined SAP deficiency	5	0.0020938	0.00417884	0.0000175	✓	Link	Link
PSAT1	Developmental disorder	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
PTPRQ	Congenital sensorineural hearing loss, autosomal recessive	5	0.0020938	0.00417884	0.0000175	✓	Link	Link
PTS	Tetrahydrobiopterin deficiency	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
PYGL	Glycogen storage disease 6	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
PYGM	McArdle disease	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
QARS1	Microcephaly	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
QDPR	Dihydropteridine reductase deficiency	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
RAB3GAP2	Microphthalmia & cataract	10	0.0041876	0.00834014	0.0000696	✓	Link	Link
RAG1	Omenn syndrome	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
RAPSN	Congenital myasthenic syndrome	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
RARS2	Pulmonary arterial hypertension	7	0.00293132	0.00584546	0.0000342	✓	Link	Link
RAX	Microphthalmia	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
RECQL4	Baller-Gerold syndrome	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
RFXANK	MHC class II deficiency	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
RNASEH2A	Aicardi-Goutieres syndrome 4	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
RNASEH2B	Aicardi-Goutières syndrome	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
RNASEH2C	Aicardi-Goutieres syndrome 3	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
ROBO3	Gaze palsy	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
ROGDI	Kohlschütter-Tönz syndrome	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
RPGRIP1	Cone-rod dystrophy 13	11	0.00460637	0.00917029	0.0000841	✓	Link	Link
RTTN	Primary microcephaly & primordial dwarfism	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
RYR1	Congenital myopathy 1B	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
SACS	Spastic ataxia, Charlevoix-Saguenay	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
SAG	Retinitis pigmentosa, autosomal recessive	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
SBDS	Shwachman-Diamond syndrome	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
SBF1	Charcot-Marie-Tooth disease	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
SCN4A	Paramyotonia congenita	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
SCN9A	Childhood absence epilepsy	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
SEC23B	Anaemia, dyserythropoietic congenital, type II	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
SEPSECS	Cerebellar atrophy	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
SERPINA1	Reduced alpha-1-antitrypsin concentration	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
SERPINF1	Osteogenesis imperfecta	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
SGCD	Muscular dystrophy	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
SGCG	Muscular dystrophy, limb girdle	32	0.0134003	0.0264415	0.000699155	✓	Link	Link
SGSH	Mucopolysaccharidosis type IIIA (Sanfilippo A)	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
SI	Sucrase isomaltase deficiency	7	0.00293132	0.00584546	0.0000342	✓	Link	Link
SKIV2L	Macular degeneration, age related, reduced risk	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
SLC12A3	Gitelman syndrome	8	0.00335008	0.00667772	0.0000446	✓	Link	Link
SLC19A3	Wernicke's-like encephalopathy	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
SLC22A5	Carnitine deficiency	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
SLC25A13	Intrahepatic cholestasis, neonatal	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
SLC25A19	Thiamine metabolism dysfunction syndrome 4	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
SLC25A20	Carnitine-acylcarnitine translocase deficiency	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
SLC26A4	Deafness	19	0.00795645	0.0157863	0.000249207	✓	Link	Link
SLC2A1	Glucose transporter type 1 deficiency syndrome	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
SLC34A1	?Fanconi renotubular syndrome 2	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
SLC35D1	Schneckenbecken dysplasia	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
SLC37A4	Glycogen storage disease 1b	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
SLC38A8	Foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
SLC39A14	?Hyperostosis cranalis interna	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
SLC3A1	Cystinuria	6	0.00251256	0.0050125	0.0000251	✓	Link	Link
SLC5A7	Neuronopathy	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
SLC6A19	Hartnup disorder	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
SMPD1	Niemann-Pick disease	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
SORD	Neuronopathy, distal hereditary motor, autosomal recessive 8	12	0.00502513	0.00999975	0.0001	✓	Link	Link
SPATA7	Leber congenital amaurosis 3	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
SPG11	Charcot-Marie-Tooth disease	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
SPG7	Spastic paraplegia	5	0.0020938	0.00417884	0.0000175	✓	Link	Link
SPTA1	Spherocytosis	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
STRC	Deafness, non-syndromic	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
SVBP	Neurodevelopmental disorder with ataxia	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
TGM1	Ichthyosiform erythroderma, congenital, nonbullous	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
THOC6	Intellectual disability	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
TMC1	Deafness	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
TMCO1	Cerebro-facio-thoracic dysplasia	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
TMEM107	Oral-facial-digital syndrome	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
TMEM138	Joubert syndrome 16	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
TMEM231	Meckel syndrome	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
TMEM237	Joubert syndrome related disorder	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
TMEM67	Nephronophthisis 11	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
TMPRSS3	Hearing loss	4	0.00167504	0.00334447	0.0000112	✓	Link	Link
TPI1	Hemolytic anemia due to triosephosphate isomerase deficiency	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
TPO	Thyroid dyshormonogenesis 2A	15	0.00628141	0.0124839	0.000155848	✓	Link	Link
TPRN	Hearing loss	6	0.00251256	0.0050125	0.0000251	✓	Link	Link
TRAPPC9	Hypogonadotropic hypogonadism, normosmic	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
TRIOBP	Developmental disorder	6	0.00251256	0.0050125	0.0000251	✓	Link	Link
TRIP4	Spinal muscular atrophy & congenital bone fractures	7	0.00293132	0.00584546	0.0000342	✓	Link	Link
TRMT10A	Neurodevelopmental disorder	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
TRPM1	Night blindness	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
TSEN54	Intellectual disability & epilepsy	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
TTC21B	Bardet-Biedl syndrome	6	0.00251256	0.0050125	0.0000251	✓	Link	Link
TTC37	Fatigue, failure to thrive & diarrhoea	7	0.00293132	0.00584546	0.0000342	✓	Link	Link
TTC7A	Immunodeficiency, combined, with intestinal atresias	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
TTN	Muscular dystrophy	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
TUBGCP6	Diaphragmatic hernia	3	0.00125628	0.00250941	0.0000063	✓	Link	Link
TYR	Albinism, oculocutaneous	14	0.00586265	0.0116566	0.000135875	✓	Link	Link
UBR1	Johanson-Blizzard syndrome	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
UFSP2	?Hip dysplasia	7	0.00293132	0.00584546	0.0000342	✓	Link	Link
UPB1	Beta-ureidopropionase deficiency	10	0.0041876	0.00834014	0.0000696	✓	Link	Link
USH2A	Retinitis Pigmentosa	13	0.00544389	0.0108285	0.000117256	✓	Link	Link
VARS2	Mitochondrial encephalopathy	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
VDR	Rickets	5	0.0020938	0.00417884	0.0000175	✓	Link	Link
VPS13B	Cohen syndrome	5	0.0020938	0.00417884	0.0000175	✓	Link	Link
VPS33B	Arthrogryposis, renal dysfunction and cholestasis	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
VPS53	Parkinson disease, early onset	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
VWF	von Willebrand disease	9	0.00376884	0.00750928	0.0000564	✓	Link	Link
WDR35	Short rib-polydactyly syndrome	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
WDR62	Microcephaly, primary	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
WHRN	Usher syndrome	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
WRN	Werner syndrome	2	0.000837521	0.00167364	0.0000028	✓	Link	Link
XPNPEP3	NPHP-like kidney disease	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
XYLT1	Desbuquois dysplasia 2	1	0.00041876	0.00083717	0.000000701	✓	Link	Link
ZFYVE26	Spastic paraplegia with thin corpus callosum	6	0.00251256	0.0050125	0.0000251	✓	Link	Link