Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR A new paradigm for West syndrome based on molecular and cell biology. 16806828

2006
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release. 9545644

1998