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 GermlineCausalMutation disease ORPHANET This analysis supports a dominant-negative mechanism for GS variants in ITPR1. 27108798 2016
CUI: C0431401
Disease: Gillespie syndrome
Gillespie syndrome 		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
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: C1847725
Disease: SPINOCEREBELLAR ATAXIA 15
SPINOCEREBELLAR ATAXIA 15 		0.740 GermlineCausalMutation disease ORPHANET
CUI: C0431401
Disease: Gillespie syndrome
Gillespie syndrome 		0.780 CausalMutation disease CLINVAR De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function. 29925855 2018
CUI: C0431401
Disease: Gillespie syndrome
Gillespie syndrome 		0.780 CausalMutation disease CLINVAR A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome. 29663667 2018
CUI: C0431401
Disease: Gillespie syndrome
Gillespie syndrome 		0.780 CausalMutation disease CLINVAR Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant. 29169895 2018
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 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 CausalMutation disease CLINVAR Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families. 18579805 2008
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.130 CausalMutation disease CLINVAR
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia. 22986007 2012
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features. 21367767 2011
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1. 12611586 2003
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Levetiracetam-responsive myoclonus in spinocerebellar ataxia type 15. 23495097 2013
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus. 14981189 2004
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. 17590087 2007
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect. 27108798 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR The contactin 4 gene locus at 3p26 is a candidate gene of SCA16. 17030759 2006
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. 25574826 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers. 28488678 2017
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene. 25794864 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia. 26770814 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families. 18579805 2008