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
FANCM
(HGNC:23168)
Fanconi anemia
(MONDO_0019391)
 Refuted
FANCM
(HGNC:23168)
breast cancer
(MONDO_0007254)
 Moderate
PNPT1
(HGNC:23166)
combined oxidative phosphorylation defect type 13
(MONDO_0013977)
 Strong
PNPT1
(HGNC:23166)
spinocerebellar ataxia type 25
(MONDO_0012103)
 Limited
PNPT1
(HGNC:23166)
Leigh syndrome
(MONDO_0009723)
 Moderate
PNPT1
(HGNC:23166)
hearing loss disorder
(MONDO_0005365)
 Strong
ALG8
(HGNC:23161)
ALG8-congenital disorder of glycosylation
(MONDO_0011969)
 Strong
ALG2
(HGNC:23159)
ALG2-congenital disorder of glycosylation
(MONDO_0011933)
 Moderate
FAT4
(HGNC:23109)
van Maldergem syndrome
(MONDO_0017813)
 Strong
UNC13D
(HGNC:23147)
familial hemophagocytic lymphohistiocytosis 3
(MONDO_0012146)
 Definitive
CPN1
(HGNC:2312)
carboxypeptidase N deficiency
(MONDO_0008910)
 Limited
SLC13A5
(HGNC:23089)
developmental and epileptic encephalopathy, 25
(MONDO_0014392)
 Strong
FAT4
(HGNC:23109)
Hennekam syndrome
(MONDO_0016256)
 Strong
SLC29A3
(HGNC:23096)
dysosteosclerosis
(MONDO_0009138)
 Moderate
SLC13A5
(HGNC:23089)
amelocerebrohypohidrotic syndrome
(MONDO_0009185)
 Strong
SLC10A7
(HGNC:23088)
short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
(MONDO_0032703)
 Moderate
LMBRD1
(HGNC:23038)
methylmalonic aciduria and homocystinuria type cblF
(MONDO_0010183)
 Strong
PDSS2
(HGNC:23041)
Leigh syndrome
(MONDO_0009723)
 Moderate
CPE
(HGNC:2303)
BDV syndrome
(MONDO_0859150)
 Strong
NLRP7
(HGNC:22947)
complete hydatidiform mole
(MONDO_0016785)
 Strong
Showing 2521–2540 of 6681