ITM2B, integral membrane protein 2B, 9445

N. diseases: 77; N. variants: 3
Disease: Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 GeneticVariation phenotype BEFREE Familial Danish dementia is an early onset autosomal dominant neurodegenerative disorder linked to a genetic defect in the BRI2 gene and clinically characterized by dementia and ataxia. 16091362 2005
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 Biomarker phenotype HPO