HTT, huntingtin, 3064

N. diseases: 188; N. variants: 32
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4479491
Disease: LOPES-MACIEL-RODAN SYNDROME
LOPES-MACIEL-RODAN SYNDROME
0.600 GeneticVariation disease UNIPROT A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. 27329733 2016
CUI: C4479491
Disease: LOPES-MACIEL-RODAN SYNDROME
LOPES-MACIEL-RODAN SYNDROME
0.600 GeneticVariation disease UNIPROT Identification of novel genetic causes of Rett syndrome-like phenotypes. 26740508 2016
CUI: C4479491
Disease: LOPES-MACIEL-RODAN SYNDROME
LOPES-MACIEL-RODAN SYNDROME
0.600 Biomarker disease GENOMICS_ENGLAND A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. 27329733 2016
CUI: C4479491
Disease: LOPES-MACIEL-RODAN SYNDROME
LOPES-MACIEL-RODAN SYNDROME
0.600 CausalMutation disease CLINVAR