Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016