Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
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
APRT
(HGNC:626)
adenine phosphoribosyltransferase deficiency
(MONDO_0013869)
 Definitive
KCNJ1
(HGNC:6255)
Bartter syndrome
(MONDO_0015231)
 Definitive
KCNJ1
(HGNC:6255)
Bartter disease type 2
(MONDO_0009424)
 Strong
ANOS1
(HGNC:6211)
Kallmann syndrome
(MONDO_0018800)
 Definitive
KCNA1
(HGNC:6218)
episodic ataxia type 1
(MONDO_0008047)
 Definitive
JUP
(HGNC:6207)
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
 Strong
IVD
(HGNC:6186)
isovaleric acidemia
(MONDO_0009475)
 Definitive
ITGB2
(HGNC:6155)
leukocyte adhesion deficiency 1
(MONDO_0007293)
 Definitive
ITGB2
(HGNC:6155)
leukocyte adhesion deficiency
(MONDO_0017570)
 Definitive
ITGA6
(HGNC:6142)
junctional epidermolysis bullosa with pyloric atresia
(MONDO_0009183)
 Moderate
ITGA2B
(HGNC:6138)
Glanzmann thrombasthenia
(MONDO_0100326)
 Definitive
IRF6
(HGNC:6121)
van der Woude syndrome
(MONDO_0019508)
 Definitive
IRF6
(HGNC:6121)
popliteal pterygium syndrome
(MONDO_0017435)
 Definitive
ABCC9
(HGNC:60)
hypertrichotic osteochondrodysplasia Cantu type
(MONDO_0009406)
 Definitive
IL2RG
(HGNC:6010)
severe combined immunodeficiency
(MONDO_0015974)
 Definitive
IL10RA
(HGNC:5964)
inflammatory bowel disease
(MONDO_0005265)
 Definitive
IL2RG
(HGNC:6010)
T-B+ severe combined immunodeficiency due to gamma chain deficiency
(MONDO_0010315)
 Definitive
IKBKG
(HGNC:5961)
incontinentia pigmenti
(MONDO_0010631)
 Definitive
IGSF1
(HGNC:5948)
central congenital hypothyroidism
(MONDO_0016410)
 Definitive
XIAP
(HGNC:592)
X-linked lymphoproliferative disease due to XIAP deficiency
(MONDO_0010385)
 Definitive
Showing 4561–4580 of 6699