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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
CNGB3
(HGNC:2153)
achromatopsia
(MONDO_0018852)
 Definitive
CNGB3
(HGNC:2153)
cone dystrophy
(MONDO_0000455)
 Moderate
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)
 Strong
KIF12
(HGNC:21495)
cholestasis
(MONDO_0001751)
 Moderate
DNAAF4
(HGNC:21493)
primary ciliary dyskinesia
(MONDO_0016575)
 Definitive
RFX6
(HGNC:21478)
Martinez-Frias syndrome
(MONDO_0011042)
 Moderate
INPP5E
(HGNC:21474)
Joubert syndrome
(MONDO_0018772)
 Definitive
IFT74
(HGNC:21424)
Bardet-Biedl syndrome
(MONDO_0015229)
 Moderate
RARS2
(HGNC:21406)
mitochondrial disease
(MONDO_0044970)
 Strong
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)
 Moderate
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
Showing 2661–2680 of 6681