ADAMTSL2, ADAMTS like 2, 9719

N. diseases: 61; N. variants: 12
Disease: GELEOPHYSIC DYSPLASIA 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1395219766
rs1395219766
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
CUI: C3278147
Disease:
GELEOPHYSIC DYSPLASIA 1 		0.700 GeneticVariation UNIPROT Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. 21415077 2011
dbSNP: rs1395219766
rs1395219766
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
CUI: C3278147
Disease:
GELEOPHYSIC DYSPLASIA 1 		0.700 GeneticVariation UNIPROT ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. 18677313 2008