Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79090
Gene Symbol: TRAPPC6A
TRAPPC6A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.310 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
Entrez Id: 7703
Gene Symbol: PCGF2
PCGF2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.300 Biomarker GENOMICS_ENGLAND Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. 30343942

2018