Disease Term Disease ID Gene Symbol References
Pseudoxanthoma Elasticum C0033847, 758 ABCC6 12069597, 10835642, 11536079, 10835643, 10954200, 11439001, 16086317, 23415960, 25758222, 17617515, 14667841, 18800149, 26633545, 697322, 31240106, 11880368, 10811882, 25615550, 15086542, 19339160, 11702217, 17045963, 15098239, 18049453, 16571645, 22209248, 20032990, 15459974, 11427982, 20034067
ABCC2
ENPP1 25615550
XYLT1 16571645
XYLT2 16571645
Gronblad-Strandberg Syndrome C0376359 ABCC6 12069597, 18049453, 23415960, 14667841, 16571645, 11880368, 17045963, 25758222
XYLT1
XYLT2 16571645
Pseudoxanthoma Elasticum, Incomplete C1867450 ABCC6 14667841, 10835643, 22209248, 697322, 18049453, 12069597, 11439001, 11880368, 23415960, 17045963, 18800149, 26633545, 16571645, 25758222
XYLT1
XYLT2 16571645
PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF C3279392 XYLT2