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
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
Showing 2681–2700 of 6699