Cutis laxa

Disease Term Disease ID Gene Symbol Classification References Source
Autosomal dominant cutis laxa 90348 ALDH18A1 Causal Pathogenic evidence from ClinVar - ClinVar
ELN Causal Pathogenic evidence from ClinVar - ClinVar
FBLN5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Cutis Laxa C0010495 ALDH18A1 Causal Pathogenic evidence from ClinVar - ClinVar
ATP6V0A2 Causal Pathogenic evidence from ClinVar - ClinVar
EFEMP2 Causal Pathogenic evidence from ClinVar 22829427 ClinVar
ELN Causal Pathogenic evidence from ClinVar 10970822, 12189163 ClinVar
PYCR1 Causal Pathogenic evidence from ClinVar 19576563, 19648921, 22829427, 24035636, 26516448 ClinVar
ABCC6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ATP6AP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29396028 -
ATP7A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20170900 -
B3GALT6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
B3GAT3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
B4GALT7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BCL11B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CD96 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CHST3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL5A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EZH2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FAM120AOS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FBLN5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22829427 -
FBN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Cutis Laxa, Autosomal Dominant C0268350 ALDH18A1 Causal Pathogenic evidence from ClinVar 26320891 ClinVar
ELN Causal Pathogenic evidence from ClinVar 9215671, 16085695, 18348261, 21309044 ClinVar
FBLN5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12618961 -
CUTIS LAXA, AUTOSOMAL DOMINANT 3 C4225268 ALDH18A1 Causal Pathogenic evidence from ClinVar 18388779, 22829427, 24913064, 26026163, 26297558, 26320891, 29903433 ClinVar
Autosomal recessive cutis laxa type 2, classic type 357074 ATP6V0A2 Causal Pathogenic evidence from ClinVar - ClinVar
ATP6V1A Causal Pathogenic evidence from ClinVar - ClinVar
ATP6V1E1 Causal Pathogenic evidence from ClinVar - ClinVar
Cutis Laxa, Autosomal Recessive, Type IIA C0268355 ATP6V0A2 Causal Pathogenic evidence from ClinVar 18157129, 19321599, 22773132, 22829427 ClinVar
ATP6V1A Causal Pathogenic evidence from ClinVar 28065471 ClinVar
ATP6V1E1 Causal Pathogenic evidence from ClinVar 28065471 ClinVar
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC C4479387 ATP6V0A2 Causal Pathogenic evidence from ClinVar 18157129, 19321599 ClinVar
ATP6V1A Causal Pathogenic evidence from ClinVar 28065471 ClinVar
ATP6V1E1 Causal Pathogenic evidence from ClinVar 28065471 ClinVar
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID C4479409 ATP6V0A2 Causal Pathogenic evidence from ClinVar 18157129, 19321599 ClinVar
ATP6V1A Causal Pathogenic evidence from ClinVar 28065471 ClinVar
ATP6V1E1 Causal Pathogenic evidence from ClinVar 28065471 ClinVar
Autosomal recessive cutis laxa type 1 90349 EFEMP2 Causal Pathogenic evidence from ClinVar - ClinVar
FBLN5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Cutis Laxa, Autosomal Recessive, Type I C0268351 EFEMP2 Causal Pathogenic evidence from ClinVar 16685658, 19664000 ClinVar
FBLN5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12189163, 16652333, 16691202, 17035250, 18185537, 20007835, 20599547, 22829427 -
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB C3280798 EFEMP2 Causal Pathogenic evidence from ClinVar 2038931, 16685658, 17937443, 19664000, 22943132, 27339457 ClinVar
Cutis laxa, recessive, type I C0432336 EFEMP2 Causal Pathogenic evidence from ClinVar 16685658, 19664000 ClinVar
FBLN5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22829427 -
CUTIS LAXA, AUTOSOMAL DOMINANT 1 C3276539 ELN Causal Pathogenic evidence from ClinVar 16085695 ClinVar
Autosomal recessive cutis laxa type 2B 357064 PYCR1 Causal Pathogenic evidence from ClinVar - ClinVar
Cutis Laxa, Autosomal Recessive, Type IIB C2751987 PYCR1 Causal Pathogenic evidence from ClinVar 11424136, 19576563, 19648921, 26516448, 27604308, 28294978 ClinVar
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB C3280799 PYCR1 Causal Pathogenic evidence from ClinVar 19648921, 22052856, 27604308, 28294978 ClinVar
Cutis laxa, recessive C2931134 FBLN5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12189163 -