Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Ehlers Danlos Syndrome COL1A1 disease C0013720 Biomarker 0.6 orphanet , disgenet
Ehlers Danlos Syndrome COL1A1 disease C0013720 GeneticVariation 0.6 orphanet , disgenet
Ehlers Danlos Syndrome COL1A2 disease C0013720 GeneticVariation 0.4 orphanet , disgenet
Ehlers Danlos Syndrome COL3A1 disease C0013720 GeneticVariation 0.4 orphanet , disgenet
Ehlers Danlos Syndrome COL1A2 disease C0013720 Biomarker 0.4 orphanet , disgenet
Ehlers Danlos Syndrome COL3A1 disease C0013720 Biomarker 0.4 orphanet , disgenet
Ehlers Danlos Syndrome B3GALT6 disease C0013720 GeneticVariation 0.35 orphanet , disgenet
Ehlers Danlos Syndrome B3GALT6 disease C0013720 Biomarker 0.35 orphanet , disgenet
Ehlers Danlos Syndrome SLC39A13 disease C0013720 Biomarker 0.34 orphanet , disgenet
Ehlers Danlos Syndrome SLC39A13 disease C0013720 GeneticVariation 0.34 orphanet , disgenet
Ehlers Danlos Syndrome DCN disease C0013720 GeneticVariation 0.26 disgenet
Ehlers Danlos Syndrome DCN disease C0013720 AlteredExpression 0.26 disgenet
Ehlers Danlos Syndrome DCN disease C0013720 Biomarker 0.26 disgenet
Ehlers Danlos Syndrome PLOD1 disease C0013720 GeneticVariation 0.25 disgenet
Ehlers Danlos Syndrome PLOD1 disease C0013720 Biomarker 0.25 disgenet
Ehlers Danlos Syndrome TNXB disease C0013720 Biomarker 0.1 disgenet
Ehlers Danlos Syndrome CHST14 disease C0013720 Biomarker 0.1 orphanet , disgenet
Ehlers Danlos Syndrome B4GALT7 disease C0013720 Biomarker 0.1 orphanet , disgenet
Ehlers Danlos Syndrome B4GALT7 disease C0013720 GeneticVariation 0.1 orphanet , disgenet
Ehlers Danlos Syndrome COL5A2 disease C0013720 Biomarker 0.1 orphanet , disgenet
Ehlers Danlos Syndrome COL5A1 disease C0013720 Biomarker 0.1 orphanet , disgenet
Ehlers Danlos Syndrome COL5A1 disease C0013720 AlteredExpression 0.1 orphanet , disgenet
Ehlers Danlos Syndrome B4GALT7 disease C0013720 AlteredExpression 0.1 orphanet , disgenet
Ehlers Danlos Syndrome TNXB disease C0013720 GeneticVariation 0.1 disgenet
Ehlers Danlos Syndrome COL5A1 disease C0013720 GeneticVariation 0.1 orphanet , disgenet
Ehlers Danlos Syndrome CHST14 disease C0013720 GeneticVariation 0.1 orphanet , disgenet
Ehlers Danlos Syndrome COL5A2 disease C0013720 GeneticVariation 0.1 orphanet , disgenet
Ehlers Danlos Syndrome ADAMTS2 disease C0013720 GeneticVariation 0.09 orphanet , disgenet
Ehlers Danlos Syndrome ADAMTS2 disease C0013720 AlteredExpression 0.09 orphanet , disgenet
Ehlers Danlos Syndrome ADAMTS2 disease C0013720 Biomarker 0.09 orphanet , disgenet
Ehlers Danlos Syndrome FN1 disease C0013720 GeneticVariation 0.07 disgenet
Ehlers Danlos Syndrome FN1 disease C0013720 Biomarker 0.07 disgenet
Ehlers Danlos Syndrome FN1 disease C0013720 AlteredExpression 0.07 disgenet
Ehlers Danlos Syndrome FKBP14 disease C0013720 Biomarker 0.06 orphanet , disgenet
Ehlers Danlos Syndrome FKBP14 disease C0013720 GeneticVariation 0.06 orphanet , disgenet
Ehlers Danlos Syndrome SEMA6A disease C0013720 GeneticVariation 0.05 disgenet
Ehlers Danlos Syndrome SEMA6A disease C0013720 Biomarker 0.05 disgenet
Ehlers Danlos Syndrome ADAMTS4 disease C0013720 GeneticVariation 0.04 disgenet
Ehlers Danlos Syndrome CYP21A2 disease C0013720 GeneticVariation 0.04 disgenet
Ehlers Danlos Syndrome REM1 disease C0013720 GeneticVariation 0.04 disgenet
Ehlers Danlos Syndrome ADAMTS4 disease C0013720 Biomarker 0.04 disgenet
Ehlers Danlos Syndrome REM1 disease C0013720 Biomarker 0.04 disgenet
Ehlers Danlos Syndrome FLNA disease C0013720 Biomarker 0.04 orphanet , disgenet
Ehlers Danlos Syndrome FLNA disease C0013720 GeneticVariation 0.04 orphanet , disgenet
Ehlers Danlos Syndrome COX8A disease C0013720 GeneticVariation 0.04 disgenet
Ehlers Danlos Syndrome COX8A disease C0013720 Biomarker 0.04 disgenet
Ehlers Danlos Syndrome ADAMTS4 disease C0013720 AlteredExpression 0.04 disgenet
Ehlers Danlos Syndrome HCRT disease C0013720 AlteredExpression 0.04 disgenet
Ehlers Danlos Syndrome HCRT disease C0013720 Biomarker 0.04 disgenet
Ehlers Danlos Syndrome DSE disease C0013720 Biomarker 0.03 orphanet , disgenet
Ehlers Danlos Syndrome DSE disease C0013720 GeneticVariation 0.03 orphanet , disgenet
Ehlers Danlos Syndrome TGFBR2 disease C0013720 GeneticVariation 0.03 disgenet
Ehlers Danlos Syndrome AEBP1 disease C0013720 Biomarker 0.03 disgenet
Ehlers Danlos Syndrome AEBP1 disease C0013720 GeneticVariation 0.03 disgenet
Ehlers Danlos Syndrome COL2A1 disease C0013720 GeneticVariation 0.02 disgenet
Ehlers Danlos Syndrome PDSS2 disease C0013720 GeneticVariation 0.02 disgenet
Ehlers Danlos Syndrome MED18 disease C0013720 GeneticVariation 0.02 disgenet
Ehlers Danlos Syndrome TGFBR1 disease C0013720 GeneticVariation 0.02 disgenet
Ehlers Danlos Syndrome ELN disease C0013720 Biomarker 0.02 disgenet
Ehlers Danlos Syndrome MAOA disease C0013720 Biomarker 0.02 disgenet
Ehlers Danlos Syndrome PDSS2 disease C0013720 Biomarker 0.02 disgenet
Ehlers Danlos Syndrome IL6 disease C0013720 AlteredExpression 0.02 disgenet
Ehlers Danlos Syndrome PLOD2 disease C0013720 AlteredExpression 0.01 disgenet
Ehlers Danlos Syndrome COL4A1 disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome PAEP disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome OSM disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome IGFBP1 disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome LRP5 disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome TAB2 disease C0013720 GeneticVariation 0.01 disgenet
Ehlers Danlos Syndrome ACTA2 disease C0013720 GeneticVariation 0.01 disgenet
Ehlers Danlos Syndrome ACTB disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome PTGS2 disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome FAM20B disease C0013720 GeneticVariation 0.01 disgenet
Ehlers Danlos Syndrome AR disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome MSTN disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome CIT disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome TBX1 disease C0013720 GeneticVariation 0.01 disgenet
Ehlers Danlos Syndrome DMPK disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome SLC6A3 disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome GDNF disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome LRRK2 disease C0013720 GeneticVariation 0.01 disgenet
Ehlers Danlos Syndrome ATP7A disease C0013720 GeneticVariation 0.01 disgenet
Ehlers Danlos Syndrome MMRN1 disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome IL1R2 disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome CENPJ disease C0013720 GeneticVariation 0.01 disgenet
Ehlers Danlos Syndrome ATF2 disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome C1R disease C0013720 GeneticVariation 0.01 orphanet , disgenet
Ehlers Danlos Syndrome BGN disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome SNAI1 disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome CGA disease C0013720 GeneticVariation 0.01 disgenet
Ehlers Danlos Syndrome CYP21A1P disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome BDNF disease C0013720 AlteredExpression 0.01 disgenet
Ehlers Danlos Syndrome ZEB2 disease C0013720 GeneticVariation 0.01 disgenet
Ehlers Danlos Syndrome SP140 disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome ATP6V0A2 disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome FBN1 disease C0013720 GeneticVariation 0.01 disgenet
Ehlers Danlos Syndrome PDE4A disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome TIMP2 disease C0013720 GeneticVariation 0.01 disgenet
Ehlers Danlos Syndrome COL5A3 disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome EDA disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome COL12A1 disease C0013720 GeneticVariation 0.01 orphanet , disgenet
Ehlers Danlos Syndrome B3GALT4 disease C0013720 GeneticVariation 0.01 disgenet
Ehlers Danlos Syndrome SEMA3A disease C0013720 GeneticVariation 0.01 disgenet
Ehlers Danlos Syndrome NPPC disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome EDS8 disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome NPR2 disease C0013720 AlteredExpression 0.01 disgenet
Ehlers Danlos Syndrome VWF disease C0013720 Biomarker 0.01 disgenet
Ehlers Danlos Syndrome ADAMTSL2 NA C0013720 NA NA orphanet
Ehlers Danlos Syndrome C1S NA C0013720 NA NA orphanet
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