Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431401
Disease: Gillespie syndrome
Gillespie syndrome 		0.780 GeneticVariation disease BEFREE In total, these results demonstrate biallelic and monoallelic ITPR1 mutations as the underlying genetic defects for Gillespie syndrome, further extending the spectrum of ITPR1-related diseases. 27108797 2016
CUI: C0431401
Disease: Gillespie syndrome
Gillespie syndrome 		0.780 GeneticVariation disease BEFREE We performed next generation sequencing in two simplex families with Gillespie syndrome and identified de novo pathological mutations localized in the C-terminal channel domain of ITPR1 in both patients: a recurrent deletion (p.Lys2596del) and a novel missense mutation (p.Asn2576Ile) close to a point of constriction in the Ca<sup>2+</sup> pore. 28698159 2017
CUI: C0431401
Disease: Gillespie syndrome
Gillespie syndrome 		0.780 GeneticVariation disease BEFREE Mutations in the IP3R1 gene in humans may cause Gillespie syndrome (GS) typically presents as fixed dilated pupils in affected infants, which was referred to as iris hypoplasia. 31391379 2020
CUI: C0431401
Disease: Gillespie syndrome
Gillespie syndrome 		0.780 GeneticVariation disease BEFREE The novel autosomal recessive mutation here reported is the first variant affecting the ITPR1 N-terminal suppressor domain, thus extending the spectrum of the pathogenetic variants in GLSP and the range of the associated clinical manifestations. 29663667 2018
CUI: C0431401
Disease: Gillespie syndrome
Gillespie syndrome 		0.780 GeneticVariation disease BEFREE Gillespie's Syndrome with Minor Cerebellar Involvement and No Intellectual Disability Associated with a Novel ITPR1 Mutation: Report of a Case and Literature Review. 31340402 2019
CUI: C0431401
Disease: Gillespie syndrome
Gillespie syndrome 		0.780 Biomarker disease BEFREE Our report reinforces ITPR1 as the cause of GS and suggests a possible role of ITPR1 in the development of other organs. 29169895 2018
CUI: C0431401
Disease: Gillespie syndrome
Gillespie syndrome 		0.780 GeneticVariation disease BEFREE Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features. 30249237 2018
CUI: C0431401
Disease: Gillespie syndrome
Gillespie syndrome 		0.780 GeneticVariation disease BEFREE This analysis supports a dominant-negative mechanism for GS variants in ITPR1. 27108798 2016
CUI: C1861732
Disease: SPINOCEREBELLAR ATAXIA 29
SPINOCEREBELLAR ATAXIA 29 		0.760 Biomarker disease BEFREE ITPR1-related SCA includes sporadic infantile-onset cerebellar ataxia as well as SCA15 and SCA29. 25794864 2015
CUI: C1861732
Disease: SPINOCEREBELLAR ATAXIA 29
SPINOCEREBELLAR ATAXIA 29 		0.760 GeneticVariation disease BEFREE Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia. 28659154 2017
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 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 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: 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 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 BEFREE 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: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.320 Biomarker disease BEFREE Lithium inhibited the enhancing effect of NCS-1 on InsP3R1 function, suggesting that InsP3R1/NCS-1 interaction is an essential component of the pathomechanism of bipolar disorder. 16691292 2006
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.320 GeneticVariation disease BEFREE There is suggestive evidence linking the PI system, and thus the IP3R, to bipolar disorder and the actions of lithium. 8115665 1994
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.320 Biomarker disease BEFREE Endoplasmic reticulum Ca(2+) content decrease by PKA-dependent hyperphosphorylation of type 1 IP3 receptor contributes to prostate cancer cell resistance to androgen deprivation. 25740420 2015
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.320 Biomarker disease BEFREE In our previous Ad-OC-TK/ACV phase I clinical trial, we demonstrated safety and proof of principle with a tissue-specific promoter-based TK/pro-drug therapy using a replication-defective adenovirus for the treatment of prostate cancer metastases. 18772902 2009
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.270 Biomarker disease BEFREE Based on these results I propose that IP(3)R and other Ca(2+) signaling proteins should be considered as potential therapeutic targets for treatment of HD and SCAs. 21210219 2011
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.270 GeneticVariation disease BEFREE The purpose of this study was to characterise a novel family with very slowly progressive pure spinocerebellar ataxia (SCA) caused by a deletion in the inositol 1,4,5-triphosphate receptor 1 (ITPR1) gene on chromosome 3. 20669319 2010
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.270 GeneticVariation disease BEFREE We have previously mapped autosomal dominant spinocerebellar ataxia (SCA) 16 to 3p26, overlapping with the locus of SCA15. 17932120 2008