LOX, lysyl oxidase, 4015

N. diseases: 328; N. variants: 14
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886040965
rs886040965
Entrez Id: 4015;153443
Gene Symbol: LOX;SRFBP1
LOX;SRFBP1
CUI: C4284414
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		0.800 GeneticVariation UNIPROT Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. 27432961 2016
dbSNP: rs886040965
rs886040965
Entrez Id: 4015;153443
Gene Symbol: LOX;SRFBP1
LOX;SRFBP1
CUI: C4284414
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		0.800 GeneticVariation UNIPROT LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. 26838787 2016
dbSNP: rs886040965
rs886040965
Entrez Id: 4015;153443
Gene Symbol: LOX;SRFBP1
LOX;SRFBP1
CUI: C4284414
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		A 0.800 CausalMutation CLINVAR