Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84197
Gene Symbol: POMK
POMK
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
Entrez Id: 84197
Gene Symbol: POMK
POMK
0.110 Biomarker disease HPO