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
CDC45
(HGNC:1739)
Meier-Gorlin syndrome
(MONDO_0016817)
 Strong
PRPF4
(HGNC:17349)
retinitis pigmentosa
(MONDO_0019200)
 Moderate
CDC42
(HGNC:1736)
macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
(MONDO_0014757)
 Moderate
BRWD3
(HGNC:17342)
West syndrome
(MONDO_0018097)
 Limited
PRPF3
(HGNC:17348)
retinitis pigmentosa
(MONDO_0019200)
 Strong
PRPF8
(HGNC:17340)
neurodevelopmental disorder
(MONDO_0700092)
 Limited
BRWD3
(HGNC:17342)
childhood epilepsy with centrotemporal spikes
(MONDO_0007295)
 Limited
PRPF8
(HGNC:17340)
retinitis pigmentosa
(MONDO_0019200)
 Strong
PRPF8
(HGNC:17340)
glaucoma
(MONDO_0005041)
 Limited
CDK13
(HGNC:1733)
syndromic intellectual disability
(MONDO_0000508)
 Strong
DTNBP1
(HGNC:17328)
Hermansky-Pudlak syndrome 7
(MONDO_0013559)
 Limited
WAC
(HGNC:17327)
DeSanto-Shinawi syndrome
(MONDO_0018760)
 Strong
RRM2B
(HGNC:17296)
mitochondrial neurogastrointestinal encephalomyopathy
(MONDO_0017575)
 Limited
RIMS1
(HGNC:17282)
autism spectrum disorder
(MONDO_0005258)
 Limited
SP7
(HGNC:17321)
osteogenesis imperfecta type 12
(MONDO_0013460)
 Moderate
APOA5
(HGNC:17288)
hyperlipoproteinemia type V
(MONDO_0007762)
 Moderate
RRM2B
(HGNC:17296)
Kearns-Sayre syndrome
(MONDO_0010787)
 Limited
DHX37
(HGNC:17210)
46,XY sex reversal 11
(MONDO_8000015)
 Strong
CENPJ
(HGNC:17272)
Seckel syndrome
(MONDO_0019342)
 Moderate
CENPJ
(HGNC:17272)
autosomal recessive primary microcephaly
(MONDO_0016660)
 Strong
Showing 3121–3140 of 6699