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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
JAK3
(HGNC:6193)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
(MONDO_0010938)
 Definitive
ITPR1
(HGNC:6180)
aniridia-cerebellar ataxia-intellectual disability syndrome
(MONDO_0008795)
 Definitive
ITPR1
(HGNC:6180)
spinocerebellar ataxia type 29
(MONDO_0007298)
 Definitive
ITPA
(HGNC:6176)
inosine triphosphatase deficiency
(MONDO_0013461)
 Moderate
ITPR1
(HGNC:6180)
spinocerebellar ataxia type 15/16
(MONDO_0011694)
 Definitive
ITM2B
(HGNC:6174)
ABri amyloidosis
(MONDO_0008306)
 Strong
ITPA
(HGNC:6176)
developmental and epileptic encephalopathy, 35
(MONDO_0014719)
 Strong
STT3A
(HGNC:6172)
STT3A-congenital disorder of glycosylation
(MONDO_0014270)
 Strong
EIF6
(HGNC:6159)
Shwachman-Diamond syndrome
(MONDO_0009833)
 Limited
ITGB4
(HGNC:6158)
epidermolysis bullosa simplex
(MONDO_0017610)
 Limited
ITM2B
(HGNC:6174)
ADan amyloidosis
(MONDO_0007297)
 Strong
ITK
(HGNC:6171)
lymphoproliferative syndrome
(MONDO_0016537)
 Strong
ITK
(HGNC:6171)
lymphoproliferative syndrome 1
(MONDO_0013081)
 Strong
ITGB4
(HGNC:6158)
junctional epidermolysis bullosa with pyloric atresia
(MONDO_0009183)
 Definitive
ITGB4
(HGNC:6158)
aplasia cutis congenita
(MONDO_0007145)
 Limited
ITGB3
(HGNC:6156)
Glanzmann thrombasthenia
(MONDO_0100326)
 Definitive
ITGAM
(HGNC:6149)
systemic lupus erythematosus
(MONDO_0007915)
 Strong
ITGA8
(HGNC:6144)
bilateral renal agenesis
(MONDO_0015986)
 Moderate
ITGA7
(HGNC:6143)
congenital fiber-type disproportion myopathy
(MONDO_0009711)
 Limited
APOE
(HGNC:613)
hyperlipoproteinemia type 3
(MONDO_0018473)
 Definitive
Showing 1141–1160 of 6681