Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Pseudoxanthoma Elasticum ABCC6 disease C0033847 Biomarker 1 orphanet , disgenet
Pseudoxanthoma Elasticum ABCC6 disease C0033847 GermlineCausalMutation 1 orphanet , disgenet
Pseudoxanthoma Elasticum ABCC6 disease C0033847 CausalMutation 1 orphanet , disgenet
Pseudoxanthoma Elasticum ABCC6 disease C0033847 GeneticVariation 1 orphanet , disgenet
Pseudoxanthoma Elasticum ABCC6 disease C0033847 AlteredExpression 1 orphanet , disgenet
Pseudoxanthoma Elasticum XYLT1 disease C0033847 GeneticVariation 0.63 disgenet
Pseudoxanthoma Elasticum XYLT1 disease C0033847 Biomarker 0.63 disgenet
Pseudoxanthoma Elasticum XYLT1 disease C0033847 AlteredExpression 0.63 disgenet
Pseudoxanthoma Elasticum XYLT2 disease C0033847 GeneticVariation 0.52 disgenet
Pseudoxanthoma Elasticum XYLT2 disease C0033847 Biomarker 0.52 disgenet
Pseudoxanthoma Elasticum ENPP1 disease C0033847 Biomarker 0.4 orphanet , disgenet
Pseudoxanthoma Elasticum ENPP1 disease C0033847 GeneticVariation 0.4 orphanet , disgenet
Pseudoxanthoma Elasticum ENPP1 disease C0033847 GermlineCausalMutation 0.4 orphanet , disgenet
Pseudoxanthoma Elasticum ABCC2 disease C0033847 GeneticVariation 0.11 disgenet
Pseudoxanthoma Elasticum ELN disease C0033847 AlteredExpression 0.1 disgenet
Pseudoxanthoma Elasticum ELN disease C0033847 Biomarker 0.1 disgenet
Pseudoxanthoma Elasticum ELN disease C0033847 GeneticVariation 0.1 disgenet
Pseudoxanthoma Elasticum S100A12 disease C0033847 GeneticVariation 0.1 disgenet
Pseudoxanthoma Elasticum S100A12 disease C0033847 AlteredExpression 0.1 disgenet
Pseudoxanthoma Elasticum S100A12 disease C0033847 Biomarker 0.1 disgenet
Pseudoxanthoma Elasticum GGCX disease C0033847 AlteredExpression 0.09 orphanet , disgenet
Pseudoxanthoma Elasticum GGCX disease C0033847 GeneticVariation 0.09 orphanet , disgenet
Pseudoxanthoma Elasticum ABCB6 disease C0033847 Biomarker 0.07 disgenet
Pseudoxanthoma Elasticum ABCB6 disease C0033847 GeneticVariation 0.07 disgenet
Pseudoxanthoma Elasticum ABCG2 disease C0033847 Biomarker 0.07 disgenet
Pseudoxanthoma Elasticum ABCG2 disease C0033847 GeneticVariation 0.07 disgenet
Pseudoxanthoma Elasticum MGP disease C0033847 AlteredExpression 0.04 disgenet
Pseudoxanthoma Elasticum MGP disease C0033847 Biomarker 0.04 disgenet
Pseudoxanthoma Elasticum MMP2 disease C0033847 Biomarker 0.03 disgenet
Pseudoxanthoma Elasticum NT5E disease C0033847 GeneticVariation 0.03 disgenet
Pseudoxanthoma Elasticum NT5E disease C0033847 Biomarker 0.03 disgenet
Pseudoxanthoma Elasticum MMP2 disease C0033847 AlteredExpression 0.03 disgenet
Pseudoxanthoma Elasticum VEGFA disease C0033847 GeneticVariation 0.03 disgenet
Pseudoxanthoma Elasticum AHSG disease C0033847 Biomarker 0.02 disgenet
Pseudoxanthoma Elasticum ABCC1 disease C0033847 GeneticVariation 0.02 disgenet
Pseudoxanthoma Elasticum APRT disease C0033847 Biomarker 0.01 disgenet
Pseudoxanthoma Elasticum MMP9 disease C0033847 AlteredExpression 0.01 disgenet
Pseudoxanthoma Elasticum PKD1 disease C0033847 GeneticVariation 0.01 disgenet
Pseudoxanthoma Elasticum ANKH disease C0033847 AlteredExpression 0.01 disgenet
Pseudoxanthoma Elasticum ABCA4 disease C0033847 GeneticVariation 0.01 disgenet
Pseudoxanthoma Elasticum ALDH7A1 disease C0033847 Biomarker 0.01 disgenet
Pseudoxanthoma Elasticum MFAP1 disease C0033847 Biomarker 0.01 disgenet
Pseudoxanthoma Elasticum NPIPB11 disease C0033847 GeneticVariation 0.01 disgenet
Pseudoxanthoma Elasticum MMP12 disease C0033847 Biomarker 0.01 disgenet
Pseudoxanthoma Elasticum CFH disease C0033847 GeneticVariation 0.01 disgenet
Pseudoxanthoma Elasticum SPP1 disease C0033847 GeneticVariation 0.01 disgenet
Pseudoxanthoma Elasticum EMD disease C0033847 GeneticVariation 0.01 disgenet
Pseudoxanthoma Elasticum ALPL disease C0033847 AlteredExpression 0.01 disgenet
Pseudoxanthoma Elasticum SELE disease C0033847 Biomarker 0.01 disgenet
Pseudoxanthoma Elasticum GLA disease C0033847 GeneticVariation 0.01 disgenet
Pseudoxanthoma Elasticum MYH11 disease C0033847 GeneticVariation 0.01 disgenet
Pseudoxanthoma Elasticum ABCA3 disease C0033847 GeneticVariation 0.01 disgenet
Pseudoxanthoma Elasticum PKD1P1 disease C0033847 GeneticVariation 0.01 disgenet
Pseudoxanthoma Elasticum ACTB disease C0033847 Biomarker 0.01 disgenet
Pseudoxanthoma Elasticum ICAM1 disease C0033847 Biomarker 0.01 disgenet
Pseudoxanthoma Elasticum TGFB1 disease C0033847 Biomarker 0.01 disgenet
Pseudoxanthoma Elasticum ELANE disease C0033847 Biomarker 0.01 disgenet
Pseudoxanthoma Elasticum LOC110283621 disease C0033847 GeneticVariation 0.01 disgenet
Pseudoxanthoma Elasticum PCSK9 disease C0033847 AlteredExpression 0.01 disgenet
Pseudoxanthoma Elasticum AGT disease C0033847 GeneticVariation 0.01 disgenet
Pseudoxanthoma Elasticum NPIPA2 disease C0033847 GeneticVariation 0.01 disgenet
Pseudoxanthoma Elasticum VKORC1 disease C0033847 Biomarker 0.01 disgenet
Pseudoxanthoma Elasticum KLHL1 disease C0033847 GeneticVariation 0.01 disgenet
Pseudoxanthoma Elasticum NPIPB3 disease C0033847 GeneticVariation 0.01 disgenet
Pseudoxanthoma Elasticum NPIPB10P disease C0033847 GeneticVariation 0.01 disgenet
Pseudoxanthoma Elasticum EDN1 disease C0033847 AlteredExpression 0.01 disgenet
Pseudoxanthoma Elasticum ABCA12 disease C0033847 Biomarker 0.01 disgenet
Pseudoxanthoma Elasticum SELP disease C0033847 AlteredExpression 0.01 disgenet
Pseudoxanthoma Elasticum SELP disease C0033847 Biomarker 0.01 disgenet
Pseudoxanthoma Elasticum NPIPA5 disease C0033847 GeneticVariation 0.01 disgenet
Pseudoxanthoma Elasticum SELL disease C0033847 Biomarker 0.01 disgenet
Pseudoxanthoma Elasticum APOE disease C0033847 AlteredExpression 0.01 disgenet
Pseudoxanthoma Elasticum NPIPA1 disease C0033847 GeneticVariation 0.01 disgenet
Pseudoxanthoma Elasticum SYCE1L disease C0033847 GeneticVariation 0.01 disgenet
Pseudoxanthoma Elasticum VWF disease C0033847 Biomarker 0.01 disgenet
Pseudoxanthoma Elasticum HBB disease C0033847 GeneticVariation 0.01 disgenet
Pseudoxanthoma Elasticum LOX disease C0033847 AlteredExpression 0.01 disgenet
click here to return to the previous page