Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Cardiomyopathies, Familial Hypertrophic MYBPC3 disease C0949658 Biomarker 0.5 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic TNNI3 disease C0949658 Biomarker 0.5 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic MYH7 disease C0949658 Biomarker 0.5 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic MYH7 disease C0949658 GeneticVariation 0.5 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic MYBPC3 disease C0949658 CausalMutation 0.5 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic TNNI3 disease C0949658 CausalMutation 0.5 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic MYH7 disease C0949658 CausalMutation 0.5 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic MYBPC3 disease C0949658 GeneticVariation 0.5 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic TNNI3 disease C0949658 GeneticVariation 0.5 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic TNNI3 disease C0949658 AlteredExpression 0.5 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic TNNT2 disease C0949658 GeneticVariation 0.5 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic TPM1 disease C0949658 Biomarker 0.5 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic TNNT2 disease C0949658 CausalMutation 0.5 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic TNNT2 disease C0949658 AlteredExpression 0.5 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic TPM1 disease C0949658 GeneticVariation 0.5 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic TPM1 disease C0949658 CausalMutation 0.5 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic TNNT2 disease C0949658 Biomarker 0.5 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic MYL2 disease C0949658 GeneticVariation 0.43 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic MYL2 disease C0949658 CausalMutation 0.43 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic MYL2 disease C0949658 Biomarker 0.43 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic MYH6 disease C0949658 GeneticVariation 0.31 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic LAMP2 disease C0949658 GeneticVariation 0.31 disgenet
Cardiomyopathies, Familial Hypertrophic LAMP2 disease C0949658 Biomarker 0.31 disgenet
Cardiomyopathies, Familial Hypertrophic MYH6 disease C0949658 Biomarker 0.31 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic SLC25A4 disease C0949658 Biomarker 0.3 disgenet
Cardiomyopathies, Familial Hypertrophic JPH2 disease C0949658 ModifyingMutation 0.3 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic JPH2 disease C0949658 GeneticVariation 0.3 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic MYLK2 disease C0949658 Biomarker 0.3 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic CAV3 disease C0949658 GeneticVariation 0.21 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic CAV3 disease C0949658 Biomarker 0.21 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic CAV1 disease C0949658 Biomarker 0.2 disgenet
Cardiomyopathies, Familial Hypertrophic CAPN2 disease C0949658 Biomarker 0.2 disgenet
Cardiomyopathies, Familial Hypertrophic ADM disease C0949658 Biomarker 0.2 disgenet
Cardiomyopathies, Familial Hypertrophic PEPD disease C0949658 Biomarker 0.2 disgenet
Cardiomyopathies, Familial Hypertrophic CD36 disease C0949658 Biomarker 0.2 disgenet
Cardiomyopathies, Familial Hypertrophic PTPN11 disease C0949658 Biomarker 0.2 disgenet
Cardiomyopathies, Familial Hypertrophic PKD1 disease C0949658 Biomarker 0.2 disgenet
Cardiomyopathies, Familial Hypertrophic NMNAT2 disease C0949658 Biomarker 0.2 disgenet
Cardiomyopathies, Familial Hypertrophic CASP3 disease C0949658 Biomarker 0.2 disgenet
Cardiomyopathies, Familial Hypertrophic EDN1 disease C0949658 Biomarker 0.2 disgenet
Cardiomyopathies, Familial Hypertrophic XIRP1 disease C0949658 Biomarker 0.2 disgenet
Cardiomyopathies, Familial Hypertrophic MTPN disease C0949658 Biomarker 0.2 disgenet
Cardiomyopathies, Familial Hypertrophic HTR2B disease C0949658 Biomarker 0.2 disgenet
Cardiomyopathies, Familial Hypertrophic NPPA disease C0949658 Biomarker 0.2 disgenet
Cardiomyopathies, Familial Hypertrophic ICAM1 disease C0949658 Biomarker 0.2 disgenet
Cardiomyopathies, Familial Hypertrophic BCL2 disease C0949658 Biomarker 0.2 disgenet
Cardiomyopathies, Familial Hypertrophic ACTC1 disease C0949658 Biomarker 0.13 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic ACTC1 disease C0949658 CausalMutation 0.13 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic ACTC1 disease C0949658 GeneticVariation 0.13 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic PRKAG2 disease C0949658 GeneticVariation 0.12 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic PRKAG2 disease C0949658 CausalMutation 0.12 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic FLNC disease C0949658 GeneticVariation 0.11 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic MYL3 disease C0949658 CausalMutation 0.11 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic MYL3 disease C0949658 GeneticVariation 0.11 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic PLN disease C0949658 GeneticVariation 0.11 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic RAF1 disease C0949658 GeneticVariation 0.1 disgenet
Cardiomyopathies, Familial Hypertrophic RPL36A-HNRNPH2 disease C0949658 GeneticVariation 0.1 disgenet
Cardiomyopathies, Familial Hypertrophic CEP85L disease C0949658 GeneticVariation 0.1 disgenet
Cardiomyopathies, Familial Hypertrophic GLA disease C0949658 GeneticVariation 0.1 disgenet
Cardiomyopathies, Familial Hypertrophic GLA disease C0949658 CausalMutation 0.1 disgenet
Cardiomyopathies, Familial Hypertrophic RAF1 disease C0949658 CausalMutation 0.1 disgenet
Cardiomyopathies, Familial Hypertrophic LMNA disease C0949658 GeneticVariation 0.1 disgenet
Cardiomyopathies, Familial Hypertrophic TRNI disease C0949658 CausalMutation 0.1 disgenet
Cardiomyopathies, Familial Hypertrophic RPL36A-HNRNPH2 disease C0949658 CausalMutation 0.1 disgenet
Cardiomyopathies, Familial Hypertrophic LMNA disease C0949658 CausalMutation 0.1 disgenet
Cardiomyopathies, Familial Hypertrophic TCAP disease C0949658 GeneticVariation 0.1 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic FHL1 disease C0949658 GeneticVariation 0.1 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic DES disease C0949658 GeneticVariation 0.1 disgenet
Cardiomyopathies, Familial Hypertrophic TRNG disease C0949658 CausalMutation 0.1 disgenet
Cardiomyopathies, Familial Hypertrophic TCAP disease C0949658 CausalMutation 0.1 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic KCNH2 disease C0949658 GeneticVariation 0.1 disgenet
Cardiomyopathies, Familial Hypertrophic PRH2 disease C0949658 Biomarker 0.04 disgenet
Cardiomyopathies, Familial Hypertrophic PRH2 disease C0949658 GeneticVariation 0.04 disgenet
Cardiomyopathies, Familial Hypertrophic PRH1 disease C0949658 Biomarker 0.04 disgenet
Cardiomyopathies, Familial Hypertrophic PRH1 disease C0949658 GeneticVariation 0.04 disgenet
Cardiomyopathies, Familial Hypertrophic MYL9 disease C0949658 GeneticVariation 0.03 disgenet
Cardiomyopathies, Familial Hypertrophic MYL12A disease C0949658 GeneticVariation 0.03 disgenet
Cardiomyopathies, Familial Hypertrophic MYL9 disease C0949658 PosttranslationalModification 0.03 disgenet
Cardiomyopathies, Familial Hypertrophic HLA-C disease C0949658 Biomarker 0.03 disgenet
Cardiomyopathies, Familial Hypertrophic HLA-C disease C0949658 GeneticVariation 0.03 disgenet
Cardiomyopathies, Familial Hypertrophic ACTB disease C0949658 Biomarker 0.03 disgenet
Cardiomyopathies, Familial Hypertrophic MYL12B disease C0949658 GeneticVariation 0.03 disgenet
Cardiomyopathies, Familial Hypertrophic ACTB disease C0949658 GeneticVariation 0.03 disgenet
Cardiomyopathies, Familial Hypertrophic ACE disease C0949658 GeneticVariation 0.03 disgenet
Cardiomyopathies, Familial Hypertrophic AGT disease C0949658 GeneticVariation 0.02 disgenet
Cardiomyopathies, Familial Hypertrophic FXN disease C0949658 Biomarker 0.02 disgenet
Cardiomyopathies, Familial Hypertrophic FXN disease C0949658 GeneticVariation 0.02 disgenet
Cardiomyopathies, Familial Hypertrophic ACTA2 disease C0949658 Biomarker 0.02 disgenet
Cardiomyopathies, Familial Hypertrophic PRKAA1 disease C0949658 GeneticVariation 0.01 disgenet
Cardiomyopathies, Familial Hypertrophic CALU disease C0949658 AlteredExpression 0.01 disgenet
Cardiomyopathies, Familial Hypertrophic DNAH8 disease C0949658 GeneticVariation 0.01 disgenet
Cardiomyopathies, Familial Hypertrophic CALM3 disease C0949658 GeneticVariation 0.01 disgenet
Cardiomyopathies, Familial Hypertrophic GDNF disease C0949658 AlteredExpression 0.01 disgenet
Cardiomyopathies, Familial Hypertrophic MIR134 disease C0949658 Biomarker 0.01 disgenet
Cardiomyopathies, Familial Hypertrophic MYOZ2 disease C0949658 Biomarker 0.01 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic EMC3 disease C0949658 GeneticVariation 0.01 disgenet
Cardiomyopathies, Familial Hypertrophic ITGA9 disease C0949658 GeneticVariation 0.01 disgenet
Cardiomyopathies, Familial Hypertrophic PRKAA2 disease C0949658 GeneticVariation 0.01 disgenet
Cardiomyopathies, Familial Hypertrophic TNNC1 disease C0949658 GeneticVariation 0.01 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic APRT disease C0949658 GeneticVariation 0.01 disgenet
Cardiomyopathies, Familial Hypertrophic PRKAB1 disease C0949658 GeneticVariation 0.01 disgenet
Cardiomyopathies, Familial Hypertrophic SATB1 disease C0949658 GeneticVariation 0.01 disgenet
Cardiomyopathies, Familial Hypertrophic MIR146A disease C0949658 Biomarker 0.01 disgenet
Cardiomyopathies, Familial Hypertrophic CALM2 disease C0949658 GeneticVariation 0.01 disgenet
Cardiomyopathies, Familial Hypertrophic MYBPC2 disease C0949658 GeneticVariation 0.01 disgenet
Cardiomyopathies, Familial Hypertrophic ACTN2 disease C0949658 GeneticVariation 0.01 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic TTN disease C0949658 GeneticVariation 0.01 orphanet , disgenet
Cardiomyopathies, Familial Hypertrophic IMMT disease C0949658 Biomarker 0.01 disgenet
Cardiomyopathies, Familial Hypertrophic CAPN1 disease C0949658 GeneticVariation 0.01 disgenet
Cardiomyopathies, Familial Hypertrophic CALM1 disease C0949658 GeneticVariation 0.01 disgenet
Cardiomyopathies, Familial Hypertrophic MYH2 disease C0949658 GeneticVariation 0.01 disgenet
Cardiomyopathies, Familial Hypertrophic CCL20 disease C0949658 AlteredExpression 0.01 disgenet
Cardiomyopathies, Familial Hypertrophic MFAP1 disease C0949658 GeneticVariation 0.01 disgenet
Cardiomyopathies, Familial Hypertrophic MEOX1 disease C0949658 Biomarker 0.01 disgenet
Cardiomyopathies, Familial Hypertrophic MAML3 disease C0949658 GeneticVariation 0.01 disgenet
Cardiomyopathies, Familial Hypertrophic ATP2A2 disease C0949658 Biomarker 0.01 disgenet
Cardiomyopathies, Familial Hypertrophic MYPN NA C0949658 NA NA orphanet
Cardiomyopathies, Familial Hypertrophic CALR3 NA C0949658 NA NA orphanet
Cardiomyopathies, Familial Hypertrophic MT-RNR2 NA C0949658 NA NA orphanet
Cardiomyopathies, Familial Hypertrophic NEBL NA C0949658 NA NA orphanet
Cardiomyopathies, Familial Hypertrophic CSRP3 NA C0949658 NA NA orphanet
Cardiomyopathies, Familial Hypertrophic LDB3 NA C0949658 NA NA orphanet
Cardiomyopathies, Familial Hypertrophic MT-TI NA C0949658 NA NA orphanet
Cardiomyopathies, Familial Hypertrophic NEXN NA C0949658 NA NA orphanet
Cardiomyopathies, Familial Hypertrophic MT-TH NA C0949658 NA NA orphanet
Cardiomyopathies, Familial Hypertrophic MT-TG NA C0949658 NA NA orphanet
Cardiomyopathies, Familial Hypertrophic MT-ATP6 NA C0949658 NA NA orphanet
Cardiomyopathies, Familial Hypertrophic VCL NA C0949658 NA NA orphanet
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