POMK, protein O-mannose kinase, 84197

N. diseases: 101; N. variants: 6
Disease: Impaired cognition ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.110 GeneticVariation disease BEFREE Here, we describe two families carrying different truncating alleles, both removing the kinase domain in POMK, with different clinical manifestations ranging from Walker-Warburg syndrome, the most severe form of dystroglycanopathy, to limb-girdle muscular dystrophy with cognitive defects. 24925318 2014
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.110 Biomarker disease HPO