POMT1, protein O-mannosyltransferase 1, 10585

N. diseases: 223; N. variants: 32
Disease: Occipital Encephalocele ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0.110 Biomarker disease BEFREE The presence of an occipital encephalocele in a WWS patient might point to POMT1 as causative gene within the different genes associated with WWS. 31311558 2019
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0.110 Biomarker disease HPO