HTT, huntingtin, 3064

N. diseases: 188; N. variants: 32
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. 27329733 2016