Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79090
Gene Symbol: TRAPPC6A
TRAPPC6A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.300 Biomarker GENOMICS_ENGLAND A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features. 29391579

2018