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
Back to Open Access Summaries

Gene–Disease Browser

Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Contact us
Gene Disease Score Actions
MT-ATP6
(HGNC:7414)
maternally-inherited Leigh syndrome
(MONDO_0016814)
 Definitive
MT-CO3
(HGNC:7422)
mitochondrial disease
(MONDO_0044970)
 Strong
MT-CO3
(HGNC:7422)
Leber hereditary optic neuropathy
(MONDO_0010788)
 Moderate
MT-CO3
(HGNC:7422)
Leigh syndrome
(MONDO_0009723)
 Limited
MT-CO2
(HGNC:7421)
mitochondrial disease
(MONDO_0044970)
 Moderate
MT-CO2
(HGNC:7421)
MELAS syndrome
(MONDO_0010789)
 Limited
MT-CO2
(HGNC:7421)
Leigh syndrome
(MONDO_0009723)
 Limited
MT-CO2
(HGNC:7421)
cytochrome-c oxidase deficiency disease
(MONDO_0009068)
 Limited
MT-CO1
(HGNC:7419)
mitochondrial disease
(MONDO_0044970)
 Moderate
MT-CO1
(HGNC:7419)
MELAS syndrome
(MONDO_0010789)
 Disputed
MT-CO1
(HGNC:7419)
Leigh syndrome
(MONDO_0009723)
 Limited
MT-CO1
(HGNC:7419)
cytochrome-c oxidase deficiency disease
(MONDO_0009068)
 Limited
MT-ATP8
(HGNC:7415)
mitochondrial disease
(MONDO_0044970)
 Moderate
MT-ATP6
(HGNC:7414)
mitochondrial disease
(MONDO_0044970)
 Definitive
MT-ATP6
(HGNC:7414)
NARP syndrome
(MONDO_0010794)
 Definitive
MSH6
(HGNC:7329)
prostate cancer
(MONDO_0008315)
 Moderate
MT-ATP6
(HGNC:7414)
Leber hereditary optic neuropathy
(MONDO_0010788)
 Limited
MT-ATP6
(HGNC:7414)
Leigh syndrome
(MONDO_0009723)
 Strong
MSH6
(HGNC:7329)
ovarian cancer
(MONDO_0008170)
 Strong
MSX2
(HGNC:7392)
parietal foramina with cleidocranial dysplasia
(MONDO_0008198)
 Strong
Showing 761–780 of 6681