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!

Browse Summaries

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
NDUFV1
(HGNC:7716)
mitochondrial complex I deficiency
(MONDO_0100133)
Strong
NDUFS8
(HGNC:7715)
mitochondrial complex I deficiency
(MONDO_0100133)
Moderate
NDUFS8
(HGNC:7715)
Leigh syndrome
(MONDO_0009723)
Strong
NDUFS7
(HGNC:7714)
mitochondrial complex I deficiency
(MONDO_0100133)
Moderate
NDUFS7
(HGNC:7714)
Leigh syndrome
(MONDO_0009723)
Moderate
NDUFS6
(HGNC:7713)
mitochondrial complex I deficiency
(MONDO_0100133)
Moderate
NDUFS6
(HGNC:7713)
mitochondrial disease
(MONDO_0044970)
Moderate
NDUFS4
(HGNC:7711)
mitochondrial complex I deficiency
(MONDO_0100133)
Definitive
NDUFS3
(HGNC:7710)
mitochondrial complex I deficiency
(MONDO_0100133)
Moderate
NDUFS3
(HGNC:7710)
Leigh syndrome
(MONDO_0009723)
Moderate
NDUFS2
(HGNC:7708)
mitochondrial complex I deficiency
(MONDO_0100133)
Strong
NDUFS2
(HGNC:7708)
Leber hereditary optic neuropathy
(MONDO_0010788)
Moderate
NDUFS2
(HGNC:7708)
Leigh syndrome
(MONDO_0009723)
Moderate
NDUFS1
(HGNC:7707)
mitochondrial complex I deficiency
(MONDO_0100133)
Strong
NDUFS1
(HGNC:7707)
mitochondrial disease
(MONDO_0044970)
Strong
NDUFS1
(HGNC:7707)
Leigh syndrome
(MONDO_0009723)
Moderate
NDUFB9
(HGNC:7704)
mitochondrial complex I deficiency
(MONDO_0100133)
Limited
NDUFB8
(HGNC:7703)
Leigh syndrome
(MONDO_0009723)
Moderate
ABL1
(HGNC:76)
congenital heart defects and skeletal malformations syndrome
(MONDO_0060532)
Strong
NDUFB3
(HGNC:7698)
mitochondrial complex I deficiency
(MONDO_0100133)
Moderate
Showing 641–660 of 6681