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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
CEP290
(HGNC:29021)
Leber congenital amaurosis 10
(MONDO_0012723)
 Definitive
CEP290
(HGNC:29021)
Senior-Loken syndrome
(MONDO_0017842)
 Moderate
CEP290
(HGNC:29021)
Joubert syndrome with oculorenal defect
(MONDO_0009480)
 Strong
CEP290
(HGNC:29021)
Bardet-Biedl syndrome
(MONDO_0015229)
 Limited
KDM6B
(HGNC:29012)
neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
(MONDO_0032790)
 Strong
KDM6B
(HGNC:29012)
neurodevelopmental disorder
(MONDO_0700092)
 Moderate
GRK2
(HGNC:289)
Jeune syndrome
(MONDO_0018770)
 Limited
DLG1
(HGNC:2900)
Brugada syndrome
(MONDO_0015263)
 Limited
FRMPD4
(HGNC:29007)
intellectual disability, X-linked 104
(MONDO_0010509)
 Moderate
RUBCN
(HGNC:28991)
autosomal recessive spinocerebellar ataxia 15
(MONDO_0014311)
 Limited
PIEZO1
(HGNC:28993)
lymphatic malformation 6
(MONDO_0014797)
 Strong
EMC1
(HGNC:28957)
cerebellar atrophy, visual impairment, and psychomotor retardation;
(MONDO_0014811)
 Strong
WASHC5
(HGNC:28984)
Ritscher-Schinzel syndrome
(MONDO_0019078)
 Moderate
WASHC5
(HGNC:28984)
hereditary spastic paraplegia 8
(MONDO_0011339)
 Moderate
DLAT
(HGNC:2896)
Leigh syndrome
(MONDO_0009723)
 Limited
TMEM94
(HGNC:28983)
intellectual developmental disorder with cardiac defects and dysmorphic facies
(MONDO_0032672)
 Limited
NUP93
(HGNC:28958)
familial idiopathic steroid-resistant nephrotic syndrome
(MONDO_0019006)
 Moderate
IQCB1
(HGNC:28949)
Leber congenital amaurosis
(MONDO_0018998)
 Strong
KRT71
(HGNC:28927)
isolated familial wooly hair disorder
(MONDO_0008686)
 Moderate
IQCB1
(HGNC:28949)
Senior-Loken syndrome
(MONDO_0017842)
 Strong
Showing 2081–2100 of 6681