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
PREPL
(HGNC:30228)
myasthenic syndrome, congenital, 22
(MONDO_0044299)
 Strong
PREPL
(HGNC:30228)
hypotonia-cystinuria syndrome
(MONDO_0011669)
 Strong
SLC52A1
(HGNC:30225)
ariboflavinosis
(MONDO_0004573)
 Limited
SLC52A2
(HGNC:30224)
Brown-Vialetto-van Laere syndrome 2
(MONDO_0013867)
 Strong
RFT1
(HGNC:30220)
RFT1-congenital disorder of glycosylation
(MONDO_0012783)
 Strong
ATP13A2
(HGNC:30213)
Kufor-Rakeb syndrome
(MONDO_0011706)
 Strong
CRBN
(HGNC:30185)
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
 Limited
STRADA
(HGNC:30172)
polyhydramnios, megalencephaly, and symptomatic epilepsy
(MONDO_0012611)
 Strong
DPYSL2
(HGNC:3014)
schizophrenia
(MONDO_0005090)
 Limited
DPYS
(HGNC:3013)
dihydropyrimidinuria
(MONDO_0009111)
 Strong
DPYD
(HGNC:3012)
dihydropyrimidine dehydrogenase deficiency
(MONDO_0010130)
 Definitive
POP1
(HGNC:30129)
anauxetic dysplasia
(MONDO_0011773)
 Moderate
DPP6
(HGNC:3010)
paroxysmal familial ventricular fibrillation
(MONDO_0100234)
 Strong
PSENEN
(HGNC:30100)
Dowling-Degos disease
(MONDO_0008371)
 Strong
REEP6
(HGNC:30078)
retinitis pigmentosa 77
(MONDO_0015013)
 Strong
POLR3A
(HGNC:30074)
leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
(MONDO_0011897)
 Strong
POLR3A
(HGNC:30074)
odontoleukodystrophy
(MONDO_0019177)
 Strong
KIAA0319L
(HGNC:30071)
systemic lupus erythematosus
(MONDO_0007915)
 Limited
PIK3R5
(HGNC:30035)
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
(MONDO_0018996)
 Limited
DPM1
(HGNC:3005)
congenital disorder of glycosylation type 1E
(MONDO_0012123)
 Strong
Showing 1961–1980 of 6699