ZC4H2, zinc finger C4H2-type containing, 55906

N. diseases: 90; N. variants: 0
Disease: Muscle eye brain disease ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.020 Biomarker disease BEFREE CMDs associated with brain malformations such as MEB, WWS and FCMD are heterogenous in clinical presentation and on radiologic examination, suggesting that POMGnT1 assays of muscle biopsies should be used as a screening procedure for MEB in all CMD patients associated with brain malformations. 12849864 2003
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.020 Biomarker disease BEFREE These results allow the classification of MEB and WWS as distinct disorders on both clinical and genetic grounds and provide a basis for the mapping of the WWS gene(s). 11320179 2001