Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.110 GeneticVariation BEFREE Mutations in the PCYT1A gene have been recently linked to two different phenotypes: one characterized by spondylometaphyseal dysplasia and cone-rod dystrophy (SMD-CRD) and the other by congenital lipodystrophy, severe fatty liver disease, and reduced HDL cholesterol without any retinal or skeletal involvement. 28272537

2017
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.110 Biomarker HPO