Disease: Cutis laxa, recessive ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119489101
rs119489101
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
CUI: C2931134
Disease:
Cutis laxa, recessive 		0.010 GeneticVariation BEFREE Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities. 26178373 2015