Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.400 Biomarker GENOMICS_ENGLAND POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. 15894594

2006

Entrez Id: 29954
Gene Symbol: POMT2
POMT2
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.400 Biomarker GENOMICS_ENGLAND POMT2 mutation in a patient with 'MEB-like' phenotype. 16701995

2006

Entrez Id: 29954
Gene Symbol: POMT2
POMT2
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.400 Biomarker GENOMICS_ENGLAND Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 17878207

2007