rs869312685, ITPR1

N. diseases: 11
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SPINOCEREBELLAR ATAXIA 29
CUI: C1861732
Disease: SPINOCEREBELLAR ATAXIA 29
0.700 GeneticVariation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172 2015
Enlarged cisterna magna
CUI: C1853377
Disease: Enlarged cisterna magna
0.700 CausalMutation CLINVAR
Dandy-Walker Syndrome
CUI: C0010964
Disease: Dandy-Walker Syndrome
0.700 CausalMutation CLINVAR
Cerebellar Hypoplasia
CUI: C0266470
Disease: Cerebellar Hypoplasia
0.700 CausalMutation CLINVAR
SPINOCEREBELLAR ATAXIA 15
CUI: C1847725
Disease: SPINOCEREBELLAR ATAXIA 15
0.700 CausalMutation CLINVAR
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR
Abnormality of cardiovascular system morphology
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
0.700 CausalMutation CLINVAR
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
0.700 CausalMutation CLINVAR
Hypoplasia of the pons
CUI: C1848529
Disease: Hypoplasia of the pons
0.700 CausalMutation CLINVAR
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
0.700 CausalMutation CLINVAR
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 CausalMutation CLINVAR