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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
KIF5A
(HGNC:6323)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Strong
KCNQ3
(HGNC:6297)
benign neonatal seizures
(MONDO_0016027)
 Strong
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)
 Definitive
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)
 Definitive
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)
 Strong
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
Showing 4541–4560 of 6681