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: rs1555042727
rs1555042727
Entrez Id: 30008;80198
Gene Symbol: EFEMP2;MUS81
EFEMP2;MUS81
CUI: C3280798
Disease:
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB 		CG 0.700 GeneticVariation CLINVAR Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa. 27339457 2016
dbSNP: rs1555042727
rs1555042727
Entrez Id: 30008;80198
Gene Symbol: EFEMP2;MUS81
EFEMP2;MUS81
CUI: C3280798
Disease:
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB 		CG 0.700 GeneticVariation CLINVAR Comparison of intravenous and topical lidocaine as a suppressant of coughing after bronchoscopy during general anesthesia. 2038931 1991