STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Disease: Overgrowth ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554777919
rs1554777919
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C1849265
Disease:
Overgrowth 		T 0.700 CausalMutation CLINVAR A new paradigm for West syndrome based on molecular and cell biology. 16806828 2006
dbSNP: rs1554777919
rs1554777919
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C1849265
Disease:
Overgrowth 		T 0.700 CausalMutation CLINVAR Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release. 9545644 1998