Gene: POMGNT1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.110 CausalMutation disease CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.110 GeneticVariation disease BEFREE Mutations in protein-O-mannose-beta1,2-N-acetylglucosaminyltransferase 1 (POMGnT1) have been found in muscle-eye-brain disease, a congenital muscular dystrophy with structural eye and brain defects and severe mental retardation. 18195152 2008
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.110 Biomarker disease HPO