Disease: WEILL-MARCHESANI SYNDROME 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854856
rs137854856
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C3553785
Disease:
WEILL-MARCHESANI SYNDROME 3 		0.700 GeneticVariation UNIPROT LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. 22539340 2012