Variant Synonymizer: Platform to identify mutations defined in different ways is available now!

VarSy

Over 2,000 gene–disease validation summaries are now available—no login required!

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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries

Gene–Disease Browser

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Gene Disease Score Actions
NDUFA4
(HGNC:7687)
Leigh syndrome
(MONDO_0009723)
Moderate
NDUFA6
(HGNC:7690)
mitochondrial complex I deficiency
(MONDO_0100133)
Moderate
NDUFA3
(HGNC:7686)
Leigh syndrome
(MONDO_0009723)
Limited
NDST1
(HGNC:7680)
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
Moderate
NDUFA2
(HGNC:7685)
Leigh syndrome
(MONDO_0009723)
Moderate
NDUFA1
(HGNC:7683)
mitochondrial complex I deficiency
(MONDO_0100133)
Moderate
NDUFA1
(HGNC:7683)
Leigh syndrome
(MONDO_0009723)
Limited
MYL3
(HGNC:7584)
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
Limited
NDRG1
(HGNC:7679)
Charcot-Marie-Tooth disease type 4D
(MONDO_0011085)
Definitive
NCF4
(HGNC:7662)
chronic granulomatous disease
(MONDO_0018305)
Strong
NCF2
(HGNC:7661)
chronic granulomatous disease
(MONDO_0018305)
Definitive
MYL3
(HGNC:7584)
hypertrophic cardiomyopathy
(MONDO_0005045)
Definitive
NBN
(HGNC:7652)
hereditary breast carcinoma
(MONDO_0016419)
Limited
NBN
(HGNC:7652)
Nijmegen breakage syndrome
(MONDO_0009623)
Definitive
MYL3
(HGNC:7584)
dilated cardiomyopathy
(MONDO_0005021)
Limited
NAGA
(HGNC:7631)
alpha-N-acetylgalactosaminidase deficiency
(MONDO_0017779)
Limited
NBN
(HGNC:7652)
prostate cancer
(MONDO_0008315)
Moderate
NAGA
(HGNC:7631)
alpha-N-acetylgalactosaminidase deficiency type 1
(MONDO_0012221)
Moderate
MYOC
(HGNC:7610)
congenital glaucoma
(MONDO_0020366)
Moderate
MYT1
(HGNC:7622)
craniofacial microsomia
(MONDO_0015397)
Limited
Showing 661–680 of 6681