|
ITPR1
(HGNC:6180)
|
spinocerebellar ataxia type 29
(MONDO_0007298)
|
Strong
|
|
|
ITPA
(HGNC:6176)
|
inosine triphosphatase deficiency
(MONDO_0013461)
|
Limited
|
|
|
ITPR1
(HGNC:6180)
|
spinocerebellar ataxia type 15/16
(MONDO_0011694)
|
Definitive
|
|
|
ITM2B
(HGNC:6174)
|
ABri amyloidosis
(MONDO_0008306)
|
Moderate
|
|
|
ITPA
(HGNC:6176)
|
developmental and epileptic encephalopathy, 35
(MONDO_0014719)
|
Strong
|
|
|
STT3A
(HGNC:6172)
|
STT3A-congenital disorder of glycosylation
(MONDO_0014270)
|
Moderate
|
|
|
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)
|
Limited
|
|
|
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
|
|
|
APOE
(HGNC:613)
|
lipoprotein glomerulopathy
(MONDO_0012725)
|
Strong
|
|
|
ITGA3
(HGNC:6139)
|
epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
(MONDO_0013881)
|
Moderate
|
|