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

Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Gene Disease Score Actions
DOC2A
(HGNC:2985)
schizophrenia
(MONDO_0005090)
Strong
DNTT
(HGNC:2983)
acute lymphoblastic leukemia
(MONDO_0004967)
Limited
N4BP1
(HGNC:29850)
schizophrenia
(MONDO_0005090)
Limited
NAT10
(HGNC:29830)
schizophrenia
(MONDO_0005090)
Limited
MRTFB
(HGNC:29819)
autism
(MONDO_0005260)
Limited
MAP3K21
(HGNC:29798)
colorectal cancer
(MONDO_0005575)
Strong
GFM2
(HGNC:29682)
Leigh syndrome
(MONDO_0009723)
Moderate
MUS81
(HGNC:29814)
breast cancer
(MONDO_0007254)
Strong
TOP1MT
(HGNC:29787)
hypertrophic cardiomyopathy
(MONDO_0005045)
Limited
SLC25A37
(HGNC:29786)
multiple sclerosis
(MONDO_0005301)
Limited
SLC25A32
(HGNC:29683)
multiple acyl-CoA dehydrogenase deficiency
(MONDO_0009282)
Limited
MTFMT
(HGNC:29666)
Leigh syndrome
(MONDO_0009723)
Definitive
MESP1
(HGNC:29658)
congenital heart disease
(MONDO_0005453)
Limited
MESP1
(HGNC:29658)
ventricular septal defect
(MONDO_0002070)
Limited
DYNC1I2
(HGNC:2964)
Beckwith-Wiedemann syndrome
(MONDO_0007534)
Disputed
MAN2B2
(HGNC:29623)
congenital disorder of glycosylation
(MONDO_0015286)
Limited
LSR
(HGNC:29572)
Alzheimer disease
(MONDO_0004975)
Limited
PLPPR2
(HGNC:29566)
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
(MONDO_0008828)
Strong
NEXN
(HGNC:29557)
dilated cardiomyopathy
(MONDO_0005021)
Strong
MAPKBP1
(HGNC:29536)
nephronophthisis
(MONDO_0019005)
Moderate
Showing 5601–5620 of 6681