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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
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Gene–Disease Browser

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Gene Disease Score Actions
IL2RA
(HGNC:6008)
immunodeficiency due to CD25 deficiency
(MONDO_0011664)
 Strong
ABCC8
(HGNC:59)
permanent neonatal diabetes mellitus
(MONDO_0100164)
 Definitive
IL1RN
(HGNC:6000)
sterile multifocal osteomyelitis with periostitis and pustulosis
(MONDO_0013021)
 Strong
ABCC8
(HGNC:59)
familial hyperinsulinism
(MONDO_0017182)
 Definitive
ABCC8
(HGNC:59)
transient neonatal diabetes mellitus
(MONDO_0020525)
 Strong
ABCC8
(HGNC:59)
maturity-onset diabetes of the young
(MONDO_0018911)
 Strong
ABCC8
(HGNC:59)
monogenic diabetes
(MONDO_0015967)
 Strong
ABCC8
(HGNC:59)
pulmonary arterial hypertension
(MONDO_0015924)
 Limited
ABCC8
(HGNC:59)
type 2 diabetes mellitus
(MONDO_0005148)
 Moderate
IL17RA
(HGNC:5985)
chronic mucocutaneous candidiasis
(MONDO_0015279)
 Strong
ABCC8
(HGNC:59)
diabetes mellitus
(MONDO_0005015)
 Definitive
IL11RA
(HGNC:5967)
craniosynostosis and dental anomalies
(MONDO_0013615)
 Strong
IL12RB1
(HGNC:5971)
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
(MONDO_0013955)
 Definitive
IL10
(HGNC:5962)
systemic lupus erythematosus
(MONDO_0007915)
 Moderate
IKBKG
(HGNC:5961)
ectodermal dysplasia and immune deficiency
(MONDO_0010293)
 Strong
ELP1
(HGNC:5959)
Riley-Day syndrome
(MONDO_0009131)
 Definitive
IHH
(HGNC:5956)
acrocapitofemoral dysplasia
(MONDO_0011907)
 Strong
IHH
(HGNC:5956)
brachydactyly type A1
(MONDO_0007215)
 Definitive
CADM1
(HGNC:5951)
autism spectrum disorder
(MONDO_0005258)
 Limited
IGSF1
(HGNC:5948)
X-linked central congenital hypothyroidism with late-onset testicular enlargement
(MONDO_0010475)
 Definitive
Showing 1201–1220 of 6681