Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
CLCN7
(HGNC:2025)
osteopetrosis
(MONDO_0017198)
 Definitive
CLCN7
(HGNC:2025)
autosomal dominant osteopetrosis 2
(MONDO_0008156)
 Definitive
SPRED1
(HGNC:20249)
Legius syndrome
(MONDO_0012669)
 Definitive
CLCN5
(HGNC:2023)
Dent disease
(MONDO_0015612)
 Definitive
CLCN2
(HGNC:2020)
leukoencephalopathy with mild cerebellar ataxia and white matter edema
(MONDO_0014292)
 Strong
CLCN5
(HGNC:2023)
Dent disease type 1
(MONDO_0010225)
 Definitive
CLCN1
(HGNC:2019)
myotonia congenita, autosomal dominant
(MONDO_0008055)
 Definitive
GPR143
(HGNC:20145)
X-linked recessive ocular albinism
(MONDO_0021019)
 Definitive
EVC2
(HGNC:19747)
Ellis-van Creveld syndrome
(MONDO_0009162)
 Definitive
POMT2
(HGNC:19743)
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
 Strong
CHRNE
(HGNC:1966)
congenital myasthenic syndrome
(MONDO_0018940)
 Definitive
CHRNB2
(HGNC:1962)
autosomal dominant nocturnal frontal lobe epilepsy
(MONDO_0020300)
 Moderate
CHRNA1
(HGNC:1955)
congenital myasthenic syndrome
(MONDO_0018940)
 Strong
CHM
(HGNC:1940)
choroideremia
(MONDO_0010557)
 Definitive
POGZ
(HGNC:18801)
intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
(MONDO_0014606)
 Definitive
DOCK8
(HGNC:19191)
hyper-IgE syndrome
(MONDO_0018037)
 Definitive
DOCK8
(HGNC:19191)
combined immunodeficiency due to DOCK8 deficiency
(MONDO_0009478)
 Definitive
DOCK6
(HGNC:19189)
Adams-Oliver syndrome
(MONDO_0007034)
 Strong
POMGNT1
(HGNC:19139)
muscle-eye-brain disease
(MONDO_0018939)
 Definitive
NPHP4
(HGNC:19104)
nephronophthisis
(MONDO_0019005)
 Strong
Showing 4921–4940 of 6699