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Gene–disease association summaries
Gene–Disease Browser
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| 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
|
|