Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ×
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: C3280798
Disease:
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB 		T 0.700 CausalMutation CLINVAR