Pseudoxanthoma elasticum

Disease Term Disease ID Gene Symbol Classification References Source
Pseudoxanthoma Elasticum C0033847 ABCC2 Causal Pathogenic evidence from ClinVar - ClinVar
ABCC6 Causal Pathogenic evidence from ClinVar 697322, 10811882, 10835642, 10835643, 10954200, 11427982, 11439001, 11536079, 11702217, 11880368, 12069597, 14667841, 15086542, 15098239, 15459974, 16086317, 16571645, 17045963, 17617515, 18049453, 18800149, 19339160, 20032990, 20034067, 22209248, 23415960, 25615550, 25758222, 26633545, 31240106 ClinVar
ENPP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25615550 -
XYLT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16571645 -
XYLT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16571645 -
Gronblad-Strandberg Syndrome C0376359 ABCC6 Causal Pathogenic evidence from ClinVar 11880368, 12069597, 14667841, 16571645, 17045963, 18049453, 23415960, 25758222 ClinVar
XYLT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
XYLT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16571645 -
Pseudoxanthoma elasticum 758 ABCC6 Causal Pathogenic evidence from ClinVar - ClinVar
ENPP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Pseudoxanthoma Elasticum, Incomplete C1867450 ABCC6 Causal Pathogenic evidence from ClinVar 697322, 10835643, 11439001, 11880368, 12069597, 14667841, 16571645, 17045963, 18049453, 18800149, 22209248, 23415960, 25758222, 26633545 ClinVar
XYLT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
XYLT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16571645 -
PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF C3279392 XYLT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -