Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
0.130 GeneticVariation disease BEFREE Missense mutations in the InsP3-binding domain (IRBIT) of ITPR1 are frequently associated with early onset cerebellar atrophy. 28698159 2017
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
0.130 Biomarker disease BEFREE All patients with SCA15 (n=10) presented with slowly progressive cerebellar ataxia and vermal cerebellar atrophy, while clinical and electrophysiological signs of extracerebellar affection were mild and more variable. 21367767 2011
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
0.130 Biomarker disease BEFREE Spinocerebellar ataxia type 15 (SCA15) is a progressive neurodegenerative disorder characterized by pure cerebellar ataxia, very slow progression, and distinct cerebellar atrophy. 18579805 2008
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
0.130 Biomarker disease HPO