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
MT-ND4
(HGNC:7459)
MELAS syndrome
(MONDO_0010789)
Limited
MT-ND4
(HGNC:7459)
Leber hereditary optic neuropathy
(MONDO_0010788)
Definitive
MT-ND4
(HGNC:7459)
Leigh syndrome
(MONDO_0009723)
Strong
MT-ND3
(HGNC:7458)
mitochondrial complex I deficiency
(MONDO_0100133)
Moderate
MT-ND3
(HGNC:7458)
mitochondrial disease
(MONDO_0044970)
Strong
MT-ND2
(HGNC:7456)
Leigh syndrome
(MONDO_0009723)
Limited
MT-ND3
(HGNC:7458)
Leigh syndrome
(MONDO_0009723)
Strong
MT-ND2
(HGNC:7456)
mitochondrial complex I deficiency
(MONDO_0100133)
Moderate
MT-ND2
(HGNC:7456)
mitochondrial disease
(MONDO_0044970)
Moderate
MT-ND2
(HGNC:7456)
Leber hereditary optic neuropathy
(MONDO_0010788)
Limited
MT-ND1
(HGNC:7455)
mitochondrial complex I deficiency
(MONDO_0100133)
Strong
MT-ND1
(HGNC:7455)
mitochondrial disease
(MONDO_0044970)
Moderate
MT-ND1
(HGNC:7455)
MELAS syndrome
(MONDO_0010789)
Moderate
MT-ND1
(HGNC:7455)
Leber hereditary optic neuropathy
(MONDO_0010788)
Definitive
MT-ND1
(HGNC:7455)
Leigh syndrome
(MONDO_0009723)
Strong
MTMR2
(HGNC:7450)
Charcot-Marie-Tooth disease type 4B1
(MONDO_0011066)
Definitive
MTHFR
(HGNC:7436)
homocystinuria due to methylene tetrahydrofolate reductase deficiency
(MONDO_0009353)
Definitive
MT-CYB
(HGNC:7427)
mitochondrial disease
(MONDO_0044970)
Moderate
MT-CYB
(HGNC:7427)
mitochondrial complex III deficiency
(MONDO_0015448)
Moderate
MT-CYB
(HGNC:7427)
Leber hereditary optic neuropathy
(MONDO_0010788)
Limited
Showing 741–760 of 6681