Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Deafness TMTC2 phenotype C0011053 Biomarker 0.5 disgenet
Deafness GJB3 phenotype C0011053 Biomarker 0.5 disgenet
Deafness GJB2 phenotype C0011053 Biomarker 0.45 disgenet
Deafness GJB2 phenotype C0011053 CausalMutation 0.45 disgenet
Deafness GJB2 phenotype C0011053 GeneticVariation 0.45 disgenet
Deafness OTOF phenotype C0011053 Biomarker 0.4 disgenet
Deafness PJVK phenotype C0011053 CausalMutation 0.4 disgenet
Deafness OTOF phenotype C0011053 CausalMutation 0.4 disgenet
Deafness PJVK phenotype C0011053 Biomarker 0.4 disgenet
Deafness CLDN14 phenotype C0011053 CausalMutation 0.4 disgenet
Deafness CLDN14 phenotype C0011053 Biomarker 0.4 disgenet
Deafness PCDH15 phenotype C0011053 Biomarker 0.31 disgenet
Deafness JAG1 phenotype C0011053 GeneticVariation 0.31 disgenet
Deafness PCDH15 phenotype C0011053 GeneticVariation 0.31 disgenet
Deafness JAG1 phenotype C0011053 Biomarker 0.31 disgenet
Deafness AK2 phenotype C0011053 Biomarker 0.31 disgenet
Deafness AK2 phenotype C0011053 GeneticVariation 0.31 disgenet
Deafness FOXI1 phenotype C0011053 Biomarker 0.3 disgenet
Deafness RNR1 phenotype C0011053 Biomarker 0.3 disgenet
Deafness CDC14A phenotype C0011053 Biomarker 0.3 disgenet
Deafness BDNF phenotype C0011053 Therapeutic 0.3 disgenet
Deafness PLS1 phenotype C0011053 Biomarker 0.3 disgenet
Deafness SLC26A5 phenotype C0011053 Biomarker 0.3 disgenet
Deafness POLD1 phenotype C0011053 Biomarker 0.3 orphanet , disgenet
Deafness ESPN phenotype C0011053 Biomarker 0.3 disgenet
Deafness PAX3 phenotype C0011053 Biomarker 0.3 disgenet
Deafness MYO7A phenotype C0011053 Biomarker 0.3 disgenet
Deafness CACNA1D phenotype C0011053 Biomarker 0.3 orphanet , disgenet
Deafness SPATC1L phenotype C0011053 Biomarker 0.3 disgenet
Deafness MYO7A phenotype C0011053 CausalMutation 0.3 disgenet
Deafness SMAD4 phenotype C0011053 Biomarker 0.3 disgenet
Deafness RSPH4A phenotype C0011053 Biomarker 0.3 disgenet
Deafness PISD phenotype C0011053 Biomarker 0.3 disgenet
Deafness MITF phenotype C0011053 Biomarker 0.3 disgenet
Deafness SERAC1 phenotype C0011053 Biomarker 0.3 disgenet
Deafness KCNK10 phenotype C0011053 Biomarker 0.2 disgenet
Deafness KCNQ1 phenotype C0011053 Biomarker 0.2 disgenet
Deafness KCNK3 phenotype C0011053 Biomarker 0.2 disgenet
Deafness RET phenotype C0011053 Biomarker 0.2 disgenet
Deafness KCNK1 phenotype C0011053 Biomarker 0.2 disgenet
Deafness USH2A phenotype C0011053 CausalMutation 0.1 disgenet
Deafness SLC26A4 phenotype C0011053 CausalMutation 0.1 disgenet
Deafness EPS8 phenotype C0011053 CausalMutation 0.1 disgenet
Deafness CLCNKA phenotype C0011053 CausalMutation 0.1 disgenet
Deafness ILDR1 phenotype C0011053 CausalMutation 0.1 disgenet
Deafness OTOG phenotype C0011053 CausalMutation 0.1 disgenet
Deafness PTPRQ phenotype C0011053 CausalMutation 0.1 disgenet
Deafness AKNAD1 phenotype C0011053 CausalMutation 0.1 disgenet
Deafness WHRN phenotype C0011053 CausalMutation 0.1 disgenet
Deafness CDH23 phenotype C0011053 CausalMutation 0.1 disgenet
Deafness LOXHD1 phenotype C0011053 CausalMutation 0.1 disgenet
Deafness TECTA phenotype C0011053 CausalMutation 0.1 disgenet
Deafness USH1G phenotype C0011053 CausalMutation 0.1 disgenet
Deafness SLC26A4-AS1 phenotype C0011053 CausalMutation 0.1 disgenet
Deafness GRXCR1 phenotype C0011053 CausalMutation 0.1 disgenet
Deafness MARVELD2 phenotype C0011053 CausalMutation 0.1 disgenet
Deafness TMC1 phenotype C0011053 CausalMutation 0.1 disgenet
Deafness GPSM2 phenotype C0011053 CausalMutation 0.1 disgenet
Deafness OPA1 phenotype C0011053 GeneticVariation 0.04 disgenet
Deafness GATA3 phenotype C0011053 GeneticVariation 0.04 disgenet
Deafness BSND phenotype C0011053 GeneticVariation 0.02 disgenet
Deafness MYH9 phenotype C0011053 GeneticVariation 0.01 disgenet
Deafness KCNQ4 phenotype C0011053 GeneticVariation 0.01 disgenet
Deafness TALDO1 phenotype C0011053 Biomarker 0.01 disgenet
Deafness FGF3 phenotype C0011053 Biomarker 0.01 orphanet , disgenet
Deafness TMPRSS3 phenotype C0011053 GeneticVariation 0.01 disgenet
Deafness PTPN11 phenotype C0011053 GeneticVariation 0.01 disgenet
Deafness SLC12A7 phenotype C0011053 Biomarker 0.01 disgenet
Deafness SLC4A11 phenotype C0011053 Biomarker 0.01 disgenet
Deafness COCH phenotype C0011053 GeneticVariation 0.01 disgenet
Deafness GJB6 phenotype C0011053 GeneticVariation 0.01 disgenet
Deafness PRPS1 NA C0011053 NA NA orphanet
Deafness FGFR3 NA C0011053 NA NA orphanet
Deafness GFER NA C0011053 NA NA orphanet
Deafness DNMT1 NA C0011053 NA NA orphanet
Deafness EXOSC2 NA C0011053 NA NA orphanet
Deafness GATA2 NA C0011053 NA NA orphanet
Deafness TRAPPC12 NA C0011053 NA NA orphanet
Deafness ABHD12 NA C0011053 NA NA orphanet
Deafness MT-TK NA C0011053 NA NA orphanet
Deafness MAFB NA C0011053 NA NA orphanet
Deafness PDSS1 NA C0011053 NA NA orphanet
Deafness AIFM1 NA C0011053 NA NA orphanet
Deafness ATP6V1B2 NA C0011053 NA NA orphanet
Deafness SLC33A1 NA C0011053 NA NA orphanet
Deafness HOXB1 NA C0011053 NA NA orphanet
Deafness MT-TL1 NA C0011053 NA NA orphanet
Deafness MYH14 NA C0011053 NA NA orphanet
Deafness MT-TE NA C0011053 NA NA orphanet
Deafness HYAL2 NA C0011053 NA NA orphanet
Deafness DLX5 NA C0011053 NA NA orphanet
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