Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Cutis Laxa ELN disease C0010495 AlteredExpression 0.7 disgenet
Cutis Laxa ELN disease C0010495 GeneticVariation 0.7 disgenet
Cutis Laxa FBLN5 disease C0010495 GeneticVariation 0.7 disgenet
Cutis Laxa FBLN5 disease C0010495 Biomarker 0.7 disgenet
Cutis Laxa ELN disease C0010495 Biomarker 0.7 disgenet
Cutis Laxa PYCR1 disease C0010495 GeneticVariation 0.66 disgenet
Cutis Laxa PYCR1 disease C0010495 CausalMutation 0.66 disgenet
Cutis Laxa PYCR1 disease C0010495 Biomarker 0.66 disgenet
Cutis Laxa EFEMP2 disease C0010495 Biomarker 0.65 disgenet
Cutis Laxa EFEMP2 disease C0010495 GeneticVariation 0.65 disgenet
Cutis Laxa LTBP4 disease C0010495 Biomarker 0.6 orphanet , disgenet
Cutis Laxa ATP7A disease C0010495 Biomarker 0.4 disgenet
Cutis Laxa ATP6V0A2 disease C0010495 GeneticVariation 0.2 disgenet
Cutis Laxa SLURP1 disease C0010495 Biomarker 0.2 disgenet
Cutis Laxa ATP6V0A2 disease C0010495 Biomarker 0.2 disgenet
Cutis Laxa ALDH18A1 disease C0010495 CausalMutation 0.14 disgenet
Cutis Laxa ALDH18A1 disease C0010495 Biomarker 0.14 disgenet
Cutis Laxa ALDH18A1 disease C0010495 GeneticVariation 0.14 disgenet
Cutis Laxa GSN disease C0010495 Biomarker 0.13 disgenet
Cutis Laxa GSN disease C0010495 GeneticVariation 0.13 disgenet
Cutis Laxa GORAB disease C0010495 Biomarker 0.11 disgenet
Cutis Laxa ATP6AP1 disease C0010495 CausalMutation 0.11 disgenet
Cutis Laxa B3GALT6 disease C0010495 GeneticVariation 0.11 disgenet
Cutis Laxa GORAB disease C0010495 GeneticVariation 0.11 disgenet
Cutis Laxa PTDSS1 disease C0010495 GeneticVariation 0.11 disgenet
Cutis Laxa B3GALT6 disease C0010495 Biomarker 0.11 disgenet
Cutis Laxa ATP6AP1 disease C0010495 GeneticVariation 0.11 disgenet
Cutis Laxa PTDSS1 disease C0010495 Biomarker 0.11 disgenet
Cutis Laxa NAA10 disease C0010495 Biomarker 0.1 disgenet
Cutis Laxa SRD5A3 disease C0010495 Biomarker 0.1 disgenet
Cutis Laxa B3GAT3 disease C0010495 Biomarker 0.1 disgenet
Cutis Laxa EZH2 disease C0010495 Biomarker 0.1 disgenet
Cutis Laxa IFT43 disease C0010495 Biomarker 0.1 disgenet
Cutis Laxa SLC7A7 disease C0010495 Biomarker 0.1 disgenet
Cutis Laxa B4GALT7 disease C0010495 Biomarker 0.1 disgenet
Cutis Laxa WDR19 disease C0010495 Biomarker 0.1 disgenet
Cutis Laxa NBAS disease C0010495 Biomarker 0.1 disgenet
Cutis Laxa SRD5A3 disease C0010495 CausalMutation 0.1 disgenet
Cutis Laxa CD96 disease C0010495 Biomarker 0.1 disgenet
Cutis Laxa SLC2A10 disease C0010495 Biomarker 0.1 disgenet
Cutis Laxa ABCC6 disease C0010495 CausalMutation 0.1 disgenet
Cutis Laxa COL5A1 disease C0010495 GeneticVariation 0.1 disgenet
Cutis Laxa MLXIPL disease C0010495 Biomarker 0.1 disgenet
Cutis Laxa WDR35 disease C0010495 Biomarker 0.1 disgenet
Cutis Laxa OSMR disease C0010495 Biomarker 0.1 disgenet
Cutis Laxa CHST3 disease C0010495 Biomarker 0.1 disgenet
Cutis Laxa RPS6KA3 disease C0010495 Biomarker 0.1 disgenet
Cutis Laxa FBN1 disease C0010495 Biomarker 0.1 disgenet
Cutis Laxa BCL11B disease C0010495 Biomarker 0.1 disgenet
Cutis Laxa MEGF8 disease C0010495 Biomarker 0.1 disgenet
Cutis Laxa GGCX disease C0010495 Biomarker 0.1 disgenet
Cutis Laxa FAM120AOS disease C0010495 GeneticVariation 0.1 disgenet
Cutis Laxa MAN1B1 disease C0010495 Biomarker 0.1 disgenet
Cutis Laxa LOX disease C0010495 Biomarker 0.04 disgenet
Cutis Laxa MMP9 disease C0010495 Biomarker 0.03 disgenet
Cutis Laxa MMP2 disease C0010495 Biomarker 0.03 disgenet
Cutis Laxa SERPINA1 disease C0010495 AlteredExpression 0.02 disgenet
Cutis Laxa SERPINA1 disease C0010495 GeneticVariation 0.02 disgenet
Cutis Laxa LOXL1 disease C0010495 AlteredExpression 0.02 disgenet
Cutis Laxa LOXL1 disease C0010495 PosttranslationalModification 0.02 disgenet
Cutis Laxa ATP6V0D2 disease C0010495 Biomarker 0.01 disgenet
Cutis Laxa MMP14 disease C0010495 Biomarker 0.01 disgenet
Cutis Laxa EPHA3 disease C0010495 AlteredExpression 0.01 disgenet
Cutis Laxa ATP6V0A4 disease C0010495 GeneticVariation 0.01 disgenet
Cutis Laxa ATP6V1E1 disease C0010495 Biomarker 0.01 disgenet
Cutis Laxa POSTN disease C0010495 GeneticVariation 0.01 disgenet
Cutis Laxa CAT disease C0010495 AlteredExpression 0.01 disgenet
Cutis Laxa RBM19 disease C0010495 Biomarker 0.01 disgenet
Cutis Laxa ANOS1 disease C0010495 GeneticVariation 0.01 disgenet
Cutis Laxa ECHS1 disease C0010495 Biomarker 0.01 disgenet
Cutis Laxa MMP1 disease C0010495 AlteredExpression 0.01 disgenet
Cutis Laxa HRAS disease C0010495 GeneticVariation 0.01 disgenet
Cutis Laxa PLCG2 disease C0010495 GeneticVariation 0.01 disgenet
Cutis Laxa AMD1 disease C0010495 GeneticVariation 0.01 disgenet
Cutis Laxa MMP12 disease C0010495 Biomarker 0.01 disgenet
Cutis Laxa PMM2 disease C0010495 GeneticVariation 0.01 disgenet
Cutis Laxa KMT2D disease C0010495 GeneticVariation 0.01 disgenet
Cutis Laxa MMP3 disease C0010495 AlteredExpression 0.01 disgenet
Cutis Laxa AMD1P2 disease C0010495 GeneticVariation 0.01 disgenet
Cutis Laxa MBD5 disease C0010495 Biomarker 0.01 disgenet
Cutis Laxa FOS disease C0010495 AlteredExpression 0.01 disgenet
Cutis Laxa MMRN1 disease C0010495 Biomarker 0.01 disgenet
Cutis Laxa SELPLG disease C0010495 AlteredExpression 0.01 disgenet
Cutis Laxa COX8A disease C0010495 GeneticVariation 0.01 disgenet
Cutis Laxa EGF disease C0010495 GeneticVariation 0.01 disgenet
Cutis Laxa DCN disease C0010495 GeneticVariation 0.01 disgenet
Cutis Laxa MKKS disease C0010495 GeneticVariation 0.01 disgenet
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