Stats
Gene–disease association summaries
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
|
|