Gene: ITPR1 ×
Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1 		0.780 Biomarker disease GENOMICS_ENGLAND 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
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1 		0.780 GermlineCausalMutation disease ORPHANET This analysis supports a dominant-negative mechanism for GS variants in ITPR1. 27108798 2016
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1 		0.780 Biomarker disease GENOMICS_ENGLAND This analysis supports a dominant-negative mechanism for GS variants in ITPR1. 27108798 2016
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1 		0.780 GeneticVariation disease UNIPROT 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
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1 		0.780 GermlineCausalMutation disease ORPHANET 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
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1 		0.780 GeneticVariation disease UNIPROT This analysis supports a dominant-negative mechanism for GS variants in ITPR1. 27108798 2016
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1 		0.780 Biomarker disease GENOMICS_ENGLAND Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia. 22986007 2012
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1 		0.780 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1 		0.780 Biomarker disease CTD_human