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
CYP7B1
(HGNC:2652)
hereditary spastic paraplegia 5A
(MONDO_0010047)
 Strong
POC5
(HGNC:26658)
retinitis pigmentosa
(MONDO_0019200)
 Moderate
WDR81
(HGNC:26600)
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
(MONDO_0012430)
 Moderate
DOK7
(HGNC:26594)
fetal akinesia deformation sequence 1
(MONDO_0100101)
 Moderate
DOK7
(HGNC:26594)
congenital myasthenic syndrome 10
(MONDO_0009690)
 Definitive
UNC80
(HGNC:26582)
hypotonia, infantile, with psychomotor retardation and characteristic facies 2
(MONDO_0014777)
 Strong
ODAD1
(HGNC:26560)
primary ciliary dyskinesia 20
(MONDO_0014030)
 Moderate
CFAP53
(HGNC:26530)
situs inversus
(MONDO_0010029)
 Limited
DZIP1L
(HGNC:26551)
autosomal recessive polycystic kidney disease
(MONDO_0009889)
 Moderate
CYP7B1
(HGNC:2652)
congenital bile acid synthesis defect 3
(MONDO_0013439)
 Limited
HGSNAT
(HGNC:26527)
retinitis pigmentosa
(MONDO_0019200)
 Moderate
HGSNAT
(HGNC:26527)
mucopolysaccharidosis type 3
(MONDO_0018937)
 Definitive
LOXHD1
(HGNC:26521)
Fuchs' endothelial dystrophy
(MONDO_0005321)
 Disputed
AGBL1
(HGNC:26504)
Fuchs' endothelial dystrophy
(MONDO_0005321)
 Disputed
NARS2
(HGNC:26274)
Leigh syndrome
(MONDO_0009723)
 Moderate
ZMAT2
(HGNC:26433)
congenital radioulnar synostosis
(MONDO_0017985)
 Limited
UROC1
(HGNC:26444)
urocanic aciduria
(MONDO_0010167)
 Limited
HEPACAM
(HGNC:26361)
megalencephalic leukoencephalopathy with subcortical cysts
(MONDO_0011391)
 Strong
HEPACAM
(HGNC:26361)
megalencephalic leukoencephalopathy with subcortical cysts 2A
(MONDO_0013490)
 Moderate
SCLT1
(HGNC:26406)
Bardet-Biedl syndrome
(MONDO_0015229)
 Limited
Showing 2241–2260 of 6699