POMK, protein O-mannose kinase, 84197

N. diseases: 101; N. variants: 6
Disease: Hydrocephalus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.310 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: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.310 Biomarker disease MGD Congenital hydrocephalus in genetically engineered mice. 21746835 2012
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.310 Biomarker disease HPO