Stats
Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
CNGB1
(HGNC:2151)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
CNGA3
(HGNC:2150)
|
achromatopsia
(MONDO_0018852)
|
Definitive
|
|
|
CNGA3
(HGNC:2150)
|
cone-rod dystrophy
(MONDO_0015993)
|
Strong
|
|
|
ACAD9
(HGNC:21497)
|
acyl-CoA dehydrogenase 9 deficiency
(MONDO_0012624)
|
Definitive
|
|
|
KIF12
(HGNC:21495)
|
cholestasis
(MONDO_0001751)
|
Moderate
|
|
|
DNAAF4
(HGNC:21493)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
RFX6
(HGNC:21478)
|
Martinez-Frias syndrome
(MONDO_0011042)
|
Moderate
|
|
|
INPP5E
(HGNC:21474)
|
Joubert syndrome
(MONDO_0018772)
|
Strong
|
|
|
IFT74
(HGNC:21424)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Moderate
|
|
|
RARS2
(HGNC:21406)
|
mitochondrial disease
(MONDO_0044970)
|
Limited
|
|
|
RIPPLY2
(HGNC:21390)
|
spondylocostal dysostosis 6, autosomal recessive
(MONDO_0014694)
|
Moderate
|
|
|
SBF2
(HGNC:2135)
|
Charcot-Marie-Tooth disease type 4B2
(MONDO_0011475)
|
Strong
|
|
|
PDHX
(HGNC:21350)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
TDRD6
(HGNC:21339)
|
oligospermia
(MONDO_0001913)
|
Moderate
|
|
|
PDHX
(HGNC:21350)
|
pyruvate dehydrogenase E3-binding protein deficiency
(MONDO_0009503)
|
Moderate
|
|
|
DYM
(HGNC:21317)
|
Smith-McCort dysplasia
(MONDO_0015799)
|
Strong
|
|
|
ELOVL5
(HGNC:21308)
|
spinocerebellar ataxia type 38
(MONDO_0014417)
|
Strong
|
|
|
DSG4
(HGNC:21307)
|
monilethrix
(MONDO_0008009)
|
Strong
|
|
|
LHFPL5
(HGNC:21253)
|
autosomal recessive nonsyndromic hearing loss 67
(MONDO_0012460)
|
Strong
|
|
|
LEMD2
(HGNC:21244)
|
Marbach-Rustad progeroid syndrome
(MONDO_0859147)
|
Limited
|
|