Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
0.020 GeneticVariation disease BEFREE HHS is caused by mutations in GALNT3, which encodes UDP-N-acetyl-alpha-D-galactosamine:polypeptide N- acetylgalactosaminyltransferase 3. 17311862 2007
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
0.020 GeneticVariation disease BEFREE HHS shares several clinical and metabolic features with hyperphosphatemic familial tumoral calcinosis (HFTC), which is caused by mutations in GALNT3 encoding a glycosyltransferase responsible for initiating O-glycosylation. 15599692 2005