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
MUTYH
(HGNC:7527)
familial adenomatous polyposis 2
(MONDO_0012041)
Definitive
MUTYH
(HGNC:7527)
familial ovarian cancer
(MONDO_0016248)
Limited
MUTYH
(HGNC:7527)
colorectal cancer
(MONDO_0005575)
Definitive
MUSK
(HGNC:7525)
fetal akinesia deformation sequence 1
(MONDO_0100101)
Moderate
MUC5B
(HGNC:7516)
interstitial lung disease
(MONDO_0015925)
Strong
MUC1
(HGNC:7508)
tubulointerstitial kidney disease, autosomal dominant, 2
(MONDO_0020726)
Definitive
MTX2
(HGNC:7506)
mandibuloacral dysplasia progeroid syndrome
(MONDO_0030880)
Limited
MTR
(HGNC:7468)
methylcobalamin deficiency type cblG
(MONDO_0009609)
Strong
MTX2
(HGNC:7506)
mandibuloacral dysplasia
(MONDO_0016584)
Limited
MT-ND6
(HGNC:7462)
mitochondrial disease
(MONDO_0044970)
Strong
MT-ND6
(HGNC:7462)
MELAS syndrome
(MONDO_0010789)
Limited
MT-ND6
(HGNC:7462)
Leber hereditary optic neuropathy
(MONDO_0010788)
Definitive
MT-ND6
(HGNC:7462)
Leigh syndrome
(MONDO_0009723)
Strong
MT-ND5
(HGNC:7461)
mitochondrial disease
(MONDO_0044970)
Definitive
MT-ND5
(HGNC:7461)
MELAS syndrome
(MONDO_0010789)
Strong
MT-ND5
(HGNC:7461)
Leber hereditary optic neuropathy
(MONDO_0010788)
Strong
MT-ND5
(HGNC:7461)
Leigh syndrome
(MONDO_0009723)
Definitive
MT-ND4L
(HGNC:7460)
mitochondrial disease
(MONDO_0044970)
Limited
MT-ND4L
(HGNC:7460)
Leber hereditary optic neuropathy
(MONDO_0010788)
Strong
MT-ND4
(HGNC:7459)
mitochondrial disease
(MONDO_0044970)
Limited
Showing 721–740 of 6681