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
MPI
(HGNC:7216)
MPI-congenital disorder of glycosylation
(MONDO_0011257)
Strong
MNAT1
(HGNC:7181)
colorectal cancer
(MONDO_0005575)
Limited
MMP19
(HGNC:7165)
interstitial lung disease 2
(MONDO_0800029)
Limited
MLANA
(HGNC:7124)
melanoma
(MONDO_0005105)
Disputed
MINPP1
(HGNC:7102)
pontocerebellar hypoplasia
(MONDO_0020135)
Strong
MGST3
(HGNC:7064)
chronic obstructive pulmonary disease
(MONDO_0005002)
Limited
MGST2
(HGNC:7063)
psoriasis
(MONDO_0005083)
Disputed
MGAT2
(HGNC:7045)
congenital disorder of glycosylation
(MONDO_0015286)
Strong
ARPC2
(HGNC:705)
ulcerative colitis
(MONDO_0005101)
Limited
OGA
(HGNC:7056)
type 2 diabetes mellitus
(MONDO_0005148)
Disputed
MELTF
(HGNC:7037)
lung adenocarcinoma
(MONDO_0005061)
Disputed
MCF2
(HGNC:6940)
neuromuscular disease
(MONDO_0019056)
Limited
MCF2
(HGNC:6940)
nervous system disorder
(MONDO_0005071)
Limited
MAPK9
(HGNC:6886)
hemophilia A
(MONDO_0010602)
Limited
ARL2
(HGNC:693)
MRCS syndrome
(MONDO_0016979)
Limited
MCF2
(HGNC:6940)
epilepsy
(MONDO_0005027)
Limited
MBD2
(HGNC:6917)
breast cancer
(MONDO_0007254)
Limited
MATR3
(HGNC:6912)
amyotrophic lateral sclerosis
(MONDO_0004976)
Moderate
MATN3
(HGNC:6909)
multiple epiphyseal dysplasia
(MONDO_0016648)
Definitive
MARS1
(HGNC:6898)
Charcot-Marie-Tooth disease
(MONDO_0015626)
Moderate
Showing 5301–5320 of 6681