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
APOE
(HGNC:613)
lipoprotein glomerulopathy
(MONDO_0012725)
 Definitive
ITGA3
(HGNC:6139)
epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
(MONDO_0013881)
 Strong
IRX4
(HGNC:6129)
congenital heart disease
(MONDO_0005453)
 Limited
IRF6
(HGNC:6121)
van der Woude syndrome 1
(MONDO_0007333)
 Definitive
IRF6
(HGNC:6121)
tooth agenesis
(MONDO_0005486)
 Limited
IRF5
(HGNC:6120)
systemic lupus erythematosus
(MONDO_0007915)
 Definitive
IRAK1
(HGNC:6112)
systemic lupus erythematosus
(MONDO_0007915)
 Strong
PDX1
(HGNC:6107)
maturity-onset diabetes of the young
(MONDO_0018911)
 Moderate
PDX1
(HGNC:6107)
permanent neonatal diabetes mellitus
(MONDO_0100164)
 Limited
PDX1
(HGNC:6107)
pancreatic agenesis
(MONDO_0009832)
 Strong
FOXP3
(HGNC:6106)
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
(MONDO_0010580)
 Definitive
ABCC9
(HGNC:60)
Brugada syndrome
(MONDO_0015263)
 Limited
ABCC9
(HGNC:60)
dilated cardiomyopathy
(MONDO_0005021)
 Limited
APOC2
(HGNC:609)
familial apolipoprotein C-II deficiency
(MONDO_0008810)
 Definitive
INSR
(HGNC:6091)
insulin-resistance syndrome type A
(MONDO_0012520)
 Strong
INSR
(HGNC:6091)
Donohue syndrome
(MONDO_0009517)
 Definitive
INSR
(HGNC:6091)
Rabson-Mendenhall syndrome
(MONDO_0009874)
 Strong
INS
(HGNC:6081)
permanent neonatal diabetes mellitus
(MONDO_0100164)
 Strong
INSL3
(HGNC:6086)
cryptorchidism
(MONDO_0009047)
 Moderate
INS
(HGNC:6081)
monogenic diabetes
(MONDO_0015967)
 Strong
Showing 1161–1180 of 6681