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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
RNF207
(HGNC:32947)
long QT syndrome
(MONDO_0002442)
 Limited
DUOXA2
(HGNC:32698)
familial thyroid dyshormonogenesis
(MONDO_0010132)
 Moderate
SLCO1B7
(HGNC:32934)
schizophrenia
(MONDO_0005090)
 Limited
MED11
(HGNC:32687)
neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
(MONDO_0957225)
 Moderate
AGO1
(HGNC:3262)
neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
(MONDO_0859531)
 Strong
EIF2S3
(HGNC:3267)
MEHMO syndrome
(MONDO_0010258)
 Strong
AGO2
(HGNC:3263)
Lessel-Kreienkamp syndrome
(MONDO_0030897)
 Strong
AGPAT2
(HGNC:325)
congenital generalized lipodystrophy type 1
(MONDO_0012071)
 Strong
EIF2B5
(HGNC:3261)
leukoencephalopathy with vanishing white matter 5
(MONDO_0957873)
 Definitive
EHHADH
(HGNC:3247)
primary Fanconi syndrome
(MONDO_0007600)
 Moderate
AGPAT2
(HGNC:325)
neonatal diabetes mellitus
(MONDO_0016391)
 Limited
ANKDD1B
(HGNC:32525)
ankylosing spondylitis
(MONDO_0005306)
 Limited
ALG11
(HGNC:32456)
ALG11-congenital disorder of glycosylation
(MONDO_0013349)
 Strong
SLC38A8
(HGNC:32434)
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
(MONDO_0012216)
 Definitive
EGR2
(HGNC:3239)
Charcot-Marie-Tooth disease
(MONDO_0015626)
 Definitive
EGR2
(HGNC:3239)
Charcot-Marie-Tooth disease type 1D
(MONDO_0011890)
 Strong
EGR2
(HGNC:3239)
Charcot-Marie-Tooth disease type 4E
(MONDO_0011527)
 Strong
EGR2
(HGNC:3239)
Charcot-Marie-Tooth disease type 3
(MONDO_0007790)
 Strong
MEGF8
(HGNC:3233)
Carpenter syndrome
(MONDO_0019012)
 Strong
EFEMP2
(HGNC:3219)
thoracic aortic aneurysm
(MONDO_0005396)
 Limited
Showing 1821–1840 of 6681