Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861732
Disease: SPINOCEREBELLAR ATAXIA 29
SPINOCEREBELLAR ATAXIA 29 		0.760 Biomarker disease GENOMICS_ENGLAND
CUI: C1861732
Disease: SPINOCEREBELLAR ATAXIA 29
SPINOCEREBELLAR ATAXIA 29 		0.760 GeneticVariation disease BEFREE Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia. 22986007 2012
CUI: C1861732
Disease: SPINOCEREBELLAR ATAXIA 29
SPINOCEREBELLAR ATAXIA 29 		0.760 Biomarker disease CTD_human Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia. 22986007 2012
CUI: C1861732
Disease: SPINOCEREBELLAR ATAXIA 29
SPINOCEREBELLAR ATAXIA 29 		0.760 GermlineCausalMutation disease ORPHANET Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia. 22986007 2012
CUI: C1861732
Disease: SPINOCEREBELLAR ATAXIA 29
SPINOCEREBELLAR ATAXIA 29 		0.760 GeneticVariation disease BEFREE Whole exome sequencing identified a novel missense variant (c.106C>T; p.[Arg36Cys]) in the suppressor domain of type 1 inositol 1,4,5-trisphosphate receptor gene (ITPR1) as the cause of the disorder, resulting in a molecular diagnosis of spinocerebellar ataxia type 29. 28620721 2017
CUI: C1861732
Disease: SPINOCEREBELLAR ATAXIA 29
SPINOCEREBELLAR ATAXIA 29 		0.760 GeneticVariation disease CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172 2015
CUI: C1861732
Disease: SPINOCEREBELLAR ATAXIA 29
SPINOCEREBELLAR ATAXIA 29 		0.760 CausalMutation disease CLINVAR Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia. 27062503 2017
CUI: C1861732
Disease: SPINOCEREBELLAR ATAXIA 29
SPINOCEREBELLAR ATAXIA 29 		0.760 CausalMutation disease CLINVAR De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function. 29925855 2018
CUI: C1861732
Disease: SPINOCEREBELLAR ATAXIA 29
SPINOCEREBELLAR ATAXIA 29 		0.760 Biomarker disease GENOMICS_ENGLAND Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome. 27108797 2016
CUI: C1861732
Disease: SPINOCEREBELLAR ATAXIA 29
SPINOCEREBELLAR ATAXIA 29 		0.760 GeneticVariation disease UNIPROT Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia. 22986007 2012
CUI: C1861732
Disease: SPINOCEREBELLAR ATAXIA 29
SPINOCEREBELLAR ATAXIA 29 		0.760 GeneticVariation disease BEFREE In sum, these findings show that de novo ITPR1 missense variants are a recurrent cause of EOA (SCA29) across independent cohorts, acting via loss of IP3 channel function. 29925855 2018
CUI: C1861732
Disease: SPINOCEREBELLAR ATAXIA 29
SPINOCEREBELLAR ATAXIA 29 		0.760 GeneticVariation disease BEFREE Cerebellar vermis aplasia (ACV, OMIM 117360) is a rare malformation of the cerebellum, with only few familial patients reported so far. 15940696 2005
CUI: C1861732
Disease: SPINOCEREBELLAR ATAXIA 29
SPINOCEREBELLAR ATAXIA 29 		0.760 GeneticVariation disease CLINVAR Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia. 27062503 2017
CUI: C1861732
Disease: SPINOCEREBELLAR ATAXIA 29
SPINOCEREBELLAR ATAXIA 29 		0.760 CausalMutation disease CLINVAR Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia. 28659154 2017
CUI: C1847725
Disease: SPINOCEREBELLAR ATAXIA 15
SPINOCEREBELLAR ATAXIA 15 		0.740 AlteredExpression disease BEFREE We propose that the search for ITPR1 deletions is mandatory in the clinical hypothesis of SCA15 and that ITPR1-reduced expression in blood may be a useful marker to identify SCA15 patients harboring genomic deletions and possibly point mutations causing reduction of mRNA level. 20082166 2010
CUI: C1847725
Disease: SPINOCEREBELLAR ATAXIA 15
SPINOCEREBELLAR ATAXIA 15 		0.740 Biomarker disease GENOMICS_ENGLAND Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome. 27108797 2016
CUI: C1847725
Disease: SPINOCEREBELLAR ATAXIA 15
SPINOCEREBELLAR ATAXIA 15 		0.740 GeneticVariation disease UNIPROT We show here that heterozygous deletion of the 5' part of the ITPR1 gene, encompassing exons 1-10, 1-40, and 1-44 in three studied families, underlies SCA15 in humans. 17590087 2007
CUI: C1847725
Disease: SPINOCEREBELLAR ATAXIA 15
SPINOCEREBELLAR ATAXIA 15 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C1847725
Disease: SPINOCEREBELLAR ATAXIA 15
SPINOCEREBELLAR ATAXIA 15 		0.740 GermlineCausalMutation disease ORPHANET
CUI: C1847725
Disease: SPINOCEREBELLAR ATAXIA 15
SPINOCEREBELLAR ATAXIA 15 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C1847725
Disease: SPINOCEREBELLAR ATAXIA 15
SPINOCEREBELLAR ATAXIA 15 		0.740 GeneticVariation disease CLINVAR Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia. 27062503 2017
CUI: C1847725
Disease: SPINOCEREBELLAR ATAXIA 15
SPINOCEREBELLAR ATAXIA 15 		0.740 GeneticVariation disease BEFREE We also present a novel SCA15 phenotype in a woman with an ITPR1 variant found to have hydrocephalus that improved with ventriculoperitoneal shunting. 27908616 2017
CUI: C1847725
Disease: SPINOCEREBELLAR ATAXIA 15
SPINOCEREBELLAR ATAXIA 15 		0.740 GeneticVariation disease BEFREE An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description. 20669319 2010
CUI: C1847725
Disease: SPINOCEREBELLAR ATAXIA 15
SPINOCEREBELLAR ATAXIA 15 		0.740 GeneticVariation disease UNIPROT Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families. 18579805 2008
CUI: C1847725
Disease: SPINOCEREBELLAR ATAXIA 15
SPINOCEREBELLAR ATAXIA 15 		0.740 CausalMutation disease CLINVAR Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families. 18579805 2008