Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Ectodermal Dysplasias GJB6 disease C0013575 Biomarker 0.41 disgenet
Ectodermal Dysplasias GJB6 disease C0013575 GeneticVariation 0.41 disgenet
Ectodermal Dysplasias BMS1 disease C0013575 Biomarker 0.3 disgenet
Ectodermal Dysplasias RHOA disease C0013575 Biomarker 0.3 disgenet
Ectodermal Dysplasias ITGB4 disease C0013575 Biomarker 0.3 disgenet
Ectodermal Dysplasias ODC1 disease C0013575 Biomarker 0.3 disgenet
Ectodermal Dysplasias DHX40 disease C0013575 Biomarker 0.3 disgenet
Ectodermal Dysplasias EDA disease C0013575 Biomarker 0.2 disgenet
Ectodermal Dysplasias EDA disease C0013575 CausalMutation 0.2 disgenet
Ectodermal Dysplasias IKBKG disease C0013575 GeneticVariation 0.2 disgenet
Ectodermal Dysplasias EDA disease C0013575 GeneticVariation 0.2 disgenet
Ectodermal Dysplasias TP63 disease C0013575 AlteredExpression 0.2 disgenet
Ectodermal Dysplasias TP63 disease C0013575 GeneticVariation 0.2 disgenet
Ectodermal Dysplasias IKBKG disease C0013575 Biomarker 0.2 disgenet
Ectodermal Dysplasias TP63 disease C0013575 Biomarker 0.2 disgenet
Ectodermal Dysplasias WNT10A disease C0013575 GeneticVariation 0.2 disgenet
Ectodermal Dysplasias WNT10A disease C0013575 Biomarker 0.2 disgenet
Ectodermal Dysplasias EDAR disease C0013575 Biomarker 0.17 disgenet
Ectodermal Dysplasias EDAR disease C0013575 CausalMutation 0.17 disgenet
Ectodermal Dysplasias EDAR disease C0013575 GeneticVariation 0.17 disgenet
Ectodermal Dysplasias HOXC13 disease C0013575 Biomarker 0.16 orphanet , disgenet
Ectodermal Dysplasias HOXC13 disease C0013575 GeneticVariation 0.16 orphanet , disgenet
Ectodermal Dysplasias NECTIN1 disease C0013575 Biomarker 0.15 disgenet
Ectodermal Dysplasias PKP1 disease C0013575 GeneticVariation 0.15 disgenet
Ectodermal Dysplasias PKP1 disease C0013575 Biomarker 0.15 disgenet
Ectodermal Dysplasias NECTIN1 disease C0013575 AlteredExpression 0.15 disgenet
Ectodermal Dysplasias NECTIN1 disease C0013575 GeneticVariation 0.15 disgenet
Ectodermal Dysplasias NECTIN4 disease C0013575 Biomarker 0.13 orphanet , disgenet
Ectodermal Dysplasias NECTIN4 disease C0013575 GeneticVariation 0.13 orphanet , disgenet
Ectodermal Dysplasias EDARADD disease C0013575 Biomarker 0.11 disgenet
Ectodermal Dysplasias EDARADD disease C0013575 GeneticVariation 0.11 disgenet
Ectodermal Dysplasias SMARCAD1 disease C0013575 Biomarker 0.11 disgenet
Ectodermal Dysplasias SMARCAD1 disease C0013575 GeneticVariation 0.11 disgenet
Ectodermal Dysplasias ORAI1 disease C0013575 Biomarker 0.11 disgenet
Ectodermal Dysplasias KRT14 disease C0013575 Biomarker 0.11 disgenet
Ectodermal Dysplasias ORAI1 disease C0013575 GeneticVariation 0.11 disgenet
Ectodermal Dysplasias TWIST2 disease C0013575 Biomarker 0.1 disgenet
Ectodermal Dysplasias IFT43 disease C0013575 Biomarker 0.1 disgenet
Ectodermal Dysplasias RPE65 disease C0013575 GeneticVariation 0.1 disgenet
Ectodermal Dysplasias MBTPS2 disease C0013575 Biomarker 0.1 disgenet
Ectodermal Dysplasias UVRAG disease C0013575 GeneticVariation 0.1 disgenet
Ectodermal Dysplasias EVC disease C0013575 Biomarker 0.1 disgenet
Ectodermal Dysplasias WDR19 disease C0013575 Biomarker 0.1 disgenet
Ectodermal Dysplasias RPE65 disease C0013575 Biomarker 0.1 disgenet
Ectodermal Dysplasias CLPB disease C0013575 CausalMutation 0.1 disgenet
Ectodermal Dysplasias NLRP1 disease C0013575 Biomarker 0.1 disgenet
Ectodermal Dysplasias WDR35 disease C0013575 Biomarker 0.1 disgenet
Ectodermal Dysplasias CKAP4 disease C0013575 GeneticVariation 0.1 disgenet
Ectodermal Dysplasias EVC2 disease C0013575 Biomarker 0.1 disgenet
Ectodermal Dysplasias CDH3 disease C0013575 Biomarker 0.1 disgenet
Ectodermal Dysplasias CKAP4 disease C0013575 Biomarker 0.1 disgenet
Ectodermal Dysplasias IFT122 disease C0013575 Biomarker 0.1 disgenet
Ectodermal Dysplasias UVRAG disease C0013575 Biomarker 0.1 disgenet
Ectodermal Dysplasias DLX3 disease C0013575 GeneticVariation 0.05 disgenet
Ectodermal Dysplasias AXIN2 disease C0013575 Biomarker 0.03 disgenet
Ectodermal Dysplasias AXIN2 disease C0013575 GeneticVariation 0.03 disgenet
Ectodermal Dysplasias TRAF6 disease C0013575 Biomarker 0.03 disgenet
Ectodermal Dysplasias GJB2 disease C0013575 GeneticVariation 0.03 disgenet
Ectodermal Dysplasias NFKBIA disease C0013575 GeneticVariation 0.03 disgenet
Ectodermal Dysplasias CHUK disease C0013575 AlteredExpression 0.02 disgenet
Ectodermal Dysplasias TAB2 disease C0013575 Biomarker 0.02 disgenet
Ectodermal Dysplasias NFKB2 disease C0013575 GeneticVariation 0.02 disgenet
Ectodermal Dysplasias NFKB2 disease C0013575 Biomarker 0.02 disgenet
Ectodermal Dysplasias MAP3K7 disease C0013575 Biomarker 0.02 disgenet
Ectodermal Dysplasias CHUK disease C0013575 Biomarker 0.02 disgenet
Ectodermal Dysplasias STIM1 disease C0013575 GeneticVariation 0.02 disgenet
Ectodermal Dysplasias STIM1 disease C0013575 Biomarker 0.02 disgenet
Ectodermal Dysplasias KRT85 disease C0013575 Biomarker 0.02 orphanet , disgenet
Ectodermal Dysplasias KRT85 disease C0013575 GeneticVariation 0.02 orphanet , disgenet
Ectodermal Dysplasias CYBB disease C0013575 AlteredExpression 0.01 disgenet
Ectodermal Dysplasias CAMKMT disease C0013575 Biomarker 0.01 disgenet
Ectodermal Dysplasias DNMT3B disease C0013575 Biomarker 0.01 disgenet
Ectodermal Dysplasias EDA2R disease C0013575 Biomarker 0.01 disgenet
Ectodermal Dysplasias JAG2 disease C0013575 GeneticVariation 0.01 disgenet
Ectodermal Dysplasias CALM2 disease C0013575 Biomarker 0.01 disgenet
Ectodermal Dysplasias SNAI1 disease C0013575 Biomarker 0.01 disgenet
Ectodermal Dysplasias KRIT1 disease C0013575 Biomarker 0.01 disgenet
Ectodermal Dysplasias NCF1 disease C0013575 AlteredExpression 0.01 disgenet
Ectodermal Dysplasias KDF1 disease C0013575 Biomarker 0.01 disgenet
Ectodermal Dysplasias IFNG disease C0013575 Biomarker 0.01 disgenet
Ectodermal Dysplasias RAC1 disease C0013575 GeneticVariation 0.01 disgenet
Ectodermal Dysplasias KLF4 disease C0013575 Biomarker 0.01 disgenet
Ectodermal Dysplasias PERP disease C0013575 Biomarker 0.01 disgenet
Ectodermal Dysplasias CTNNB1 disease C0013575 Biomarker 0.01 disgenet
Ectodermal Dysplasias CD38 disease C0013575 GeneticVariation 0.01 disgenet
Ectodermal Dysplasias FNDC3A disease C0013575 Biomarker 0.01 disgenet
Ectodermal Dysplasias ITCH disease C0013575 Biomarker 0.01 disgenet
Ectodermal Dysplasias KREMEN1 disease C0013575 GeneticVariation 0.01 disgenet
Ectodermal Dysplasias NFKB1 disease C0013575 AlteredExpression 0.01 disgenet
Ectodermal Dysplasias DSP disease C0013575 Biomarker 0.01 disgenet
Ectodermal Dysplasias CALM1 disease C0013575 Biomarker 0.01 disgenet
Ectodermal Dysplasias TRAF3 disease C0013575 Biomarker 0.01 disgenet
Ectodermal Dysplasias FOXI2 disease C0013575 GeneticVariation 0.01 disgenet
Ectodermal Dysplasias KRT74 disease C0013575 GeneticVariation 0.01 orphanet , disgenet
Ectodermal Dysplasias CALM3 disease C0013575 Biomarker 0.01 disgenet
Ectodermal Dysplasias PAX9 disease C0013575 Biomarker 0.01 disgenet
Ectodermal Dysplasias DPH1 NA C0013575 NA NA orphanet
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