Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Parapareses, Spastic RNASEH2B phenotype C0037771 Biomarker 0.4 disgenet
Parapareses, Spastic TECPR2 phenotype C0037771 GeneticVariation 0.31 disgenet
Parapareses, Spastic TECPR2 phenotype C0037771 Biomarker 0.31 disgenet
Parapareses, Spastic ABCD1 phenotype C0037771 Biomarker 0.31 disgenet
Parapareses, Spastic PCYT2 phenotype C0037771 Biomarker 0.3 disgenet
Parapareses, Spastic PSEN1 phenotype C0037771 GeneticVariation 0.2 disgenet
Parapareses, Spastic PSEN1 phenotype C0037771 CausalMutation 0.2 disgenet
Parapareses, Spastic PSEN1 phenotype C0037771 Biomarker 0.2 disgenet
Parapareses, Spastic SPAST phenotype C0037771 CausalMutation 0.17 disgenet
Parapareses, Spastic SPAST phenotype C0037771 GeneticVariation 0.17 disgenet
Parapareses, Spastic KIF1A phenotype C0037771 CausalMutation 0.12 disgenet
Parapareses, Spastic SPG7 phenotype C0037771 CausalMutation 0.12 disgenet
Parapareses, Spastic SPG7 phenotype C0037771 GeneticVariation 0.12 disgenet
Parapareses, Spastic KIF1A phenotype C0037771 GeneticVariation 0.12 disgenet
Parapareses, Spastic SPG11 phenotype C0037771 CausalMutation 0.12 disgenet
Parapareses, Spastic SPG11 phenotype C0037771 GeneticVariation 0.12 disgenet
Parapareses, Spastic PLP1 phenotype C0037771 Biomarker 0.12 disgenet
Parapareses, Spastic FA2H phenotype C0037771 Biomarker 0.12 disgenet
Parapareses, Spastic FA2H phenotype C0037771 GeneticVariation 0.12 disgenet
Parapareses, Spastic TTC19 phenotype C0037771 GeneticVariation 0.11 disgenet
Parapareses, Spastic TTC19 phenotype C0037771 Biomarker 0.11 disgenet
Parapareses, Spastic IFIH1 phenotype C0037771 GeneticVariation 0.11 disgenet
Parapareses, Spastic POLG phenotype C0037771 AlteredExpression 0.11 disgenet
Parapareses, Spastic IFIH1 phenotype C0037771 Biomarker 0.11 disgenet
Parapareses, Spastic C12orf65 phenotype C0037771 Biomarker 0.11 disgenet
Parapareses, Spastic POLG phenotype C0037771 Biomarker 0.11 disgenet
Parapareses, Spastic C19orf12 phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic WDR45 phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic SLC30A10 phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic SLC25A15 phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic SDHD phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic KY phenotype C0037771 CausalMutation 0.1 disgenet
Parapareses, Spastic SDHB phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic SPG21 phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic AFG3L2 phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic GBA phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic EDNRB phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic GJA1 phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic CCDC88C phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic TREX1 phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic OPA3 phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic COASY phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic EPHB1 phenotype C0037771 CausalMutation 0.1 disgenet
Parapareses, Spastic AAAS phenotype C0037771 CausalMutation 0.1 disgenet
Parapareses, Spastic RNASEH2C phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic ATP6AP2 phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic GNAO1 phenotype C0037771 GeneticVariation 0.1 disgenet
Parapareses, Spastic AIMP1 phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic SPART phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic SDHAF1 phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic MTPAP phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic IDUA phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic ADAR phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic RNASEH2A phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic SDHA phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic ALDH18A1 phenotype C0037771 CausalMutation 0.1 disgenet
Parapareses, Spastic MAG phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic SAMHD1 phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic SOX10 phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic GJC2 phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic GJC2 phenotype C0037771 GeneticVariation 0.1 disgenet
Parapareses, Spastic PEX16 phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic MICOS13 phenotype C0037771 Biomarker 0.1 disgenet
Parapareses, Spastic PRNP phenotype C0037771 GeneticVariation 0.03 disgenet
Parapareses, Spastic REEP1 phenotype C0037771 Biomarker 0.03 disgenet
Parapareses, Spastic REEP1 phenotype C0037771 GeneticVariation 0.03 disgenet
Parapareses, Spastic DDHD1 phenotype C0037771 GeneticVariation 0.02 disgenet
Parapareses, Spastic VPS53 phenotype C0037771 Biomarker 0.01 disgenet
Parapareses, Spastic WNK1 phenotype C0037771 GeneticVariation 0.01 disgenet
Parapareses, Spastic RNF6 phenotype C0037771 Biomarker 0.01 disgenet
Parapareses, Spastic MFN2 phenotype C0037771 Biomarker 0.01 disgenet
Parapareses, Spastic BSCL2 phenotype C0037771 GeneticVariation 0.01 disgenet
Parapareses, Spastic TSHZ1 phenotype C0037771 GeneticVariation 0.01 disgenet
Parapareses, Spastic KIF1C phenotype C0037771 Biomarker 0.01 disgenet
Parapareses, Spastic APP phenotype C0037771 GeneticVariation 0.01 disgenet
Parapareses, Spastic GLRA1 phenotype C0037771 GeneticVariation 0.01 disgenet
Parapareses, Spastic CAPN1 phenotype C0037771 GeneticVariation 0.01 disgenet
Parapareses, Spastic GBA2 phenotype C0037771 GeneticVariation 0.01 disgenet
Parapareses, Spastic MECP2 phenotype C0037771 GeneticVariation 0.01 disgenet
Parapareses, Spastic DSTYK phenotype C0037771 GeneticVariation 0.01 disgenet
Parapareses, Spastic HSPD1 phenotype C0037771 Biomarker 0.01 disgenet
Parapareses, Spastic POMC phenotype C0037771 Biomarker 0.01 disgenet
Parapareses, Spastic VPS37A phenotype C0037771 GeneticVariation 0.01 disgenet
Parapareses, Spastic ATXN3 phenotype C0037771 Biomarker 0.01 disgenet
Parapareses, Spastic DDHD2 phenotype C0037771 GeneticVariation 0.01 disgenet
Parapareses, Spastic SFXN1 phenotype C0037771 GeneticVariation 0.01 disgenet
Parapareses, Spastic KIF5A phenotype C0037771 GeneticVariation 0.01 disgenet
Parapareses, Spastic ZFYVE26 phenotype C0037771 Biomarker 0.01 disgenet
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