Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Neuromuscular Disease TPI1 group C0027868 Biomarker 0.31 disgenet
Neuromuscular Disease TPI1 group C0027868 AlteredExpression 0.31 disgenet
Neuromuscular Disease XK group C0027868 Biomarker 0.3 disgenet
Neuromuscular Disease RYR1 group C0027868 Biomarker 0.2 disgenet
Neuromuscular Disease RYR1 group C0027868 CausalMutation 0.2 disgenet
Neuromuscular Disease RYR1 group C0027868 GeneticVariation 0.2 disgenet
Neuromuscular Disease LMNA group C0027868 GeneticVariation 0.15 disgenet
Neuromuscular Disease LMNA group C0027868 Biomarker 0.15 disgenet
Neuromuscular Disease LMNA group C0027868 CausalMutation 0.15 disgenet
Neuromuscular Disease TRPV4 group C0027868 Biomarker 0.14 disgenet
Neuromuscular Disease TRPV4 group C0027868 GeneticVariation 0.14 disgenet
Neuromuscular Disease TRPV4 group C0027868 CausalMutation 0.14 disgenet
Neuromuscular Disease DES group C0027868 GeneticVariation 0.13 disgenet
Neuromuscular Disease DES group C0027868 Biomarker 0.13 disgenet
Neuromuscular Disease EMD group C0027868 CausalMutation 0.12 disgenet
Neuromuscular Disease EMD group C0027868 GeneticVariation 0.12 disgenet
Neuromuscular Disease TTN group C0027868 GeneticVariation 0.12 disgenet
Neuromuscular Disease ACTA1 group C0027868 CausalMutation 0.11 disgenet
Neuromuscular Disease ACTA1 group C0027868 GeneticVariation 0.11 disgenet
Neuromuscular Disease SMN2 group C0027868 GeneticVariation 0.1 disgenet
Neuromuscular Disease SMN1 group C0027868 AlteredExpression 0.1 disgenet
Neuromuscular Disease SMN1 group C0027868 Biomarker 0.1 disgenet
Neuromuscular Disease SMN1 group C0027868 GeneticVariation 0.1 disgenet
Neuromuscular Disease SNRPN group C0027868 AlteredExpression 0.1 disgenet
Neuromuscular Disease DMD group C0027868 AlteredExpression 0.1 disgenet
Neuromuscular Disease SMN2 group C0027868 AlteredExpression 0.1 disgenet
Neuromuscular Disease AR group C0027868 Biomarker 0.1 disgenet
Neuromuscular Disease SMN2 group C0027868 Biomarker 0.1 disgenet
Neuromuscular Disease SNRPN group C0027868 Biomarker 0.1 disgenet
Neuromuscular Disease SNRPN group C0027868 GeneticVariation 0.1 disgenet
Neuromuscular Disease AR group C0027868 GeneticVariation 0.1 disgenet
Neuromuscular Disease STMN1 group C0027868 GeneticVariation 0.1 disgenet
Neuromuscular Disease LDB3 group C0027868 CausalMutation 0.1 disgenet
Neuromuscular Disease STMN1 group C0027868 AlteredExpression 0.1 disgenet
Neuromuscular Disease STMN1 group C0027868 Biomarker 0.1 disgenet
Neuromuscular Disease DMD group C0027868 GeneticVariation 0.1 disgenet
Neuromuscular Disease SNURF group C0027868 AlteredExpression 0.1 disgenet
Neuromuscular Disease DMD group C0027868 Biomarker 0.1 disgenet
Neuromuscular Disease SNURF group C0027868 GeneticVariation 0.1 disgenet
Neuromuscular Disease MYH7 group C0027868 CausalMutation 0.1 disgenet
Neuromuscular Disease TTN-AS1 group C0027868 GeneticVariation 0.1 disgenet
Neuromuscular Disease DMPK group C0027868 GeneticVariation 0.1 disgenet
Neuromuscular Disease SNURF group C0027868 Biomarker 0.1 disgenet
Neuromuscular Disease SGCD group C0027868 GeneticVariation 0.1 disgenet
Neuromuscular Disease DNM2 group C0027868 GeneticVariation 0.07 disgenet
Neuromuscular Disease DNM2 group C0027868 Biomarker 0.07 disgenet
Neuromuscular Disease SCN4A group C0027868 Biomarker 0.05 disgenet
Neuromuscular Disease GNE group C0027868 GeneticVariation 0.05 disgenet
Neuromuscular Disease GNE group C0027868 Biomarker 0.05 disgenet
Neuromuscular Disease SCN4A group C0027868 GeneticVariation 0.05 disgenet
Neuromuscular Disease BEST1 group C0027868 GeneticVariation 0.05 disgenet
Neuromuscular Disease HSPB8 group C0027868 GeneticVariation 0.05 disgenet
Neuromuscular Disease DYSF group C0027868 Biomarker 0.04 disgenet
Neuromuscular Disease DYSF group C0027868 GeneticVariation 0.04 disgenet
Neuromuscular Disease FST group C0027868 Biomarker 0.04 disgenet
Neuromuscular Disease CAPN3 group C0027868 Biomarker 0.04 disgenet
Neuromuscular Disease CAPN3 group C0027868 GeneticVariation 0.04 disgenet
Neuromuscular Disease CAV3 group C0027868 GeneticVariation 0.03 disgenet
Neuromuscular Disease CAV3 group C0027868 Biomarker 0.03 disgenet
Neuromuscular Disease MTM1 group C0027868 GeneticVariation 0.03 disgenet
Neuromuscular Disease MSTN group C0027868 AlteredExpression 0.03 disgenet
Neuromuscular Disease MSTN group C0027868 Biomarker 0.03 disgenet
Neuromuscular Disease MTM1 group C0027868 Biomarker 0.03 disgenet
Neuromuscular Disease DAG1 group C0027868 Biomarker 0.03 disgenet
Neuromuscular Disease GDNF group C0027868 AlteredExpression 0.03 disgenet
Neuromuscular Disease FXN group C0027868 GeneticVariation 0.03 disgenet
Neuromuscular Disease GDNF group C0027868 Biomarker 0.03 disgenet
Neuromuscular Disease SOD1 group C0027868 GeneticVariation 0.03 disgenet
Neuromuscular Disease FXN group C0027868 Biomarker 0.03 disgenet
Neuromuscular Disease SOD1 group C0027868 Biomarker 0.03 disgenet
Neuromuscular Disease LAMA2 group C0027868 Biomarker 0.02 disgenet
Neuromuscular Disease LAMA2 group C0027868 GeneticVariation 0.02 disgenet
Neuromuscular Disease TCAP group C0027868 GeneticVariation 0.02 disgenet
Neuromuscular Disease TCAP group C0027868 AlteredExpression 0.02 disgenet
Neuromuscular Disease DOK7 group C0027868 AlteredExpression 0.02 disgenet
Neuromuscular Disease ANO5 group C0027868 Biomarker 0.02 disgenet
Neuromuscular Disease GAA group C0027868 Biomarker 0.02 disgenet
Neuromuscular Disease PABPN1 group C0027868 GeneticVariation 0.02 disgenet
Neuromuscular Disease CHCHD10 group C0027868 Biomarker 0.02 disgenet
Neuromuscular Disease FLNC group C0027868 GeneticVariation 0.02 disgenet
Neuromuscular Disease GOLGA2 group C0027868 Biomarker 0.02 disgenet
Neuromuscular Disease GOLGA2 group C0027868 GeneticVariation 0.02 disgenet
Neuromuscular Disease PABPN1 group C0027868 Biomarker 0.02 disgenet
Neuromuscular Disease FKRP group C0027868 GeneticVariation 0.02 disgenet
Neuromuscular Disease IGF1 group C0027868 Biomarker 0.02 disgenet
Neuromuscular Disease ACE group C0027868 Biomarker 0.02 disgenet
Neuromuscular Disease DOK7 group C0027868 Biomarker 0.02 disgenet
Neuromuscular Disease POMT1 group C0027868 GeneticVariation 0.02 disgenet
Neuromuscular Disease GAA group C0027868 GeneticVariation 0.02 disgenet
Neuromuscular Disease HGF group C0027868 Biomarker 0.02 disgenet
Neuromuscular Disease POMT1 group C0027868 Biomarker 0.02 disgenet
Neuromuscular Disease ANO5 group C0027868 GeneticVariation 0.02 disgenet
Neuromuscular Disease CHAT group C0027868 GeneticVariation 0.02 disgenet
Neuromuscular Disease NEB group C0027868 GeneticVariation 0.02 disgenet
Neuromuscular Disease MAG group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease FBXL4 group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease CLP1 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease HSPD1 group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease SYNE1 group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease TRIP4 group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease PLEC group C0027868 AlteredExpression 0.01 disgenet
Neuromuscular Disease MB group C0027868 AlteredExpression 0.01 disgenet
Neuromuscular Disease SELENON group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease SBF2 group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease TARDBP group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease SGCB group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease APRT group C0027868 AlteredExpression 0.01 disgenet
Neuromuscular Disease GFPT1 group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease COL15A1 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease PLA1A group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease SMDT1 group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease HSPA4 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease KHSRP group C0027868 AlteredExpression 0.01 disgenet
Neuromuscular Disease BDNF group C0027868 AlteredExpression 0.01 disgenet
Neuromuscular Disease ACSL4 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease LIAS group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease HRAS group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease COX3 group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease BGN group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease PKP4 group C0027868 AlteredExpression 0.01 disgenet
Neuromuscular Disease COPD group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease ADGRG6 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease AAVS1 group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease PTGS1 group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease MACF1 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease HTRA2 group C0027868 AlteredExpression 0.01 disgenet
Neuromuscular Disease SGCA group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease XPO1 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease MMP2 group C0027868 AlteredExpression 0.01 disgenet
Neuromuscular Disease USP14 group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease MEF2A group C0027868 AlteredExpression 0.01 disgenet
Neuromuscular Disease KLC2 group C0027868 AlteredExpression 0.01 disgenet
Neuromuscular Disease APOE group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease ACHE group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease SCN8A group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease ZNF106 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease NOS1 group C0027868 AlteredExpression 0.01 disgenet
Neuromuscular Disease ATXN1 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease TFG group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease IMMT group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease RPL3 group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease DCTN1 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease ATP7A group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease TIMP2 group C0027868 AlteredExpression 0.01 disgenet
Neuromuscular Disease MFAP1 group C0027868 AlteredExpression 0.01 disgenet
Neuromuscular Disease EPGN group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease DNAJC11 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease KIF1B group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease POLG group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease SPEG group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease EIF3K group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease RIC8A group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease MEF2C group C0027868 AlteredExpression 0.01 disgenet
Neuromuscular Disease SI group C0027868 AlteredExpression 0.01 disgenet
Neuromuscular Disease MFN1 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease COQ2 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease AVP group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease ECEL1 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease KLHL40 group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease ICOS group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease TIMP1 group C0027868 AlteredExpression 0.01 disgenet
Neuromuscular Disease NAIP group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease ACTB group C0027868 AlteredExpression 0.01 disgenet
Neuromuscular Disease FRG1 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease CHRND group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease GJB1 group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease MGAM group C0027868 AlteredExpression 0.01 disgenet
Neuromuscular Disease PIK3CB group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease MUSK group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease SGCG group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease CYTB group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease STRAP group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease CSRP3 group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease BICD2 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease LRP4 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease ASCC1 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease MSTO1 group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease DTNBP1 group C0027868 AlteredExpression 0.01 disgenet
Neuromuscular Disease MICU1 group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease AMCN group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease TNNT1 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease VCP group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease IGFALS group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease PAX7 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease DUX4 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease TAZ group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease MYH2 group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease SIGMAR1 group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease PIK3CA group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease BCL2 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease SLC7A10 group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease NEFL group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease CAV2 group C0027868 AlteredExpression 0.01 disgenet
Neuromuscular Disease PKD1L2 group C0027868 AlteredExpression 0.01 disgenet
Neuromuscular Disease RYR3 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease JSRP1 group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease KY group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease PIK3CG group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease CACNA1D group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease TH group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease COL4A1 group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease MIR206 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease HTC2 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease PMP22 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease DAP group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease MMP9 group C0027868 AlteredExpression 0.01 disgenet
Neuromuscular Disease SYNC group C0027868 AlteredExpression 0.01 disgenet
Neuromuscular Disease PDCD1 group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease MAD2L1BP group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease MYOT group C0027868 GeneticVariation 0.01 disgenet
Neuromuscular Disease FGF21 group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease PIK3CD group C0027868 Biomarker 0.01 disgenet
Neuromuscular Disease JPH3 group C0027868 Biomarker 0.01 disgenet
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