Stats
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 |
|
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)
|
Definitive
|
|
|
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)
|
Moderate
|
|
|
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)
|
Strong
|
|
|
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)
|
Strong
|
|
|
APC
(HGNC:583)
|
gastric adenocarcinoma and proximal polyposis of the stomach
(MONDO_0017790)
|
Strong
|
|
|
ATG12
(HGNC:588)
|
colorectal cancer
(MONDO_0005575)
|
Refuted
|
|