POMK, protein O-mannose kinase, 84197

N. diseases: 101; N. variants: 6
Disease: Macrocephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.110 GeneticVariation disease BEFREE The association between pathogenic POMK variants and macrocephaly and severe hydrocephalus has been previously reported only in two families. 31833209 2020
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.110 Biomarker disease HPO