Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
NEUROPATHIES HEREDITARY MOTOR SENSORY MPZ group C0027888 GeneticVariation 0.6 orphanet , disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY MPZ group C0027888 Biomarker 0.6 orphanet , disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY PMP22 group C0027888 Biomarker 0.6 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY PMP22 group C0027888 GeneticVariation 0.6 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY EGR2 group C0027888 Biomarker 0.5 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY DYNC1H1 group C0027888 Biomarker 0.31 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY DYNC1H1 group C0027888 CausalMutation 0.31 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY DYNC1H1 group C0027888 GeneticVariation 0.31 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY AMACR group C0027888 Biomarker 0.3 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY PRX group C0027888 Biomarker 0.3 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY RFC1 group C0027888 Biomarker 0.3 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY GJB1 group C0027888 GeneticVariation 0.27 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY GJB1 group C0027888 Biomarker 0.27 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY NDRG1 group C0027888 GeneticVariation 0.25 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY NDRG1 group C0027888 Biomarker 0.25 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY NDRG1 group C0027888 AlteredExpression 0.25 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY MFN2 group C0027888 Biomarker 0.24 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY MFN2 group C0027888 GeneticVariation 0.24 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY MTMR2 group C0027888 Biomarker 0.23 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY KIF1B group C0027888 GeneticVariation 0.23 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY KIF1B group C0027888 Biomarker 0.23 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY MTMR2 group C0027888 GeneticVariation 0.23 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY GDAP1 group C0027888 Biomarker 0.22 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY GDAP1 group C0027888 GeneticVariation 0.22 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY SLC12A6 group C0027888 Biomarker 0.22 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY SLC12A6 group C0027888 GeneticVariation 0.22 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY NEFL group C0027888 Biomarker 0.22 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY NEFL group C0027888 GeneticVariation 0.22 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY SH3TC2 group C0027888 GeneticVariation 0.21 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY FGD4 group C0027888 Biomarker 0.21 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY SH3TC2 group C0027888 Biomarker 0.21 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY GARS1 group C0027888 Biomarker 0.21 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY FGD4 group C0027888 AlteredExpression 0.21 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY GARS1 group C0027888 GeneticVariation 0.21 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY FIG4 group C0027888 GeneticVariation 0.21 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY FIG4 group C0027888 Biomarker 0.21 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY LMNA group C0027888 Biomarker 0.2 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY DHTKD1 group C0027888 Biomarker 0.2 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY COX6A1 group C0027888 Biomarker 0.2 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY SBF2 group C0027888 Biomarker 0.2 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY LRSAM1 group C0027888 Biomarker 0.2 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY RNMT group C0027888 GeneticVariation 0.07 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY RNMT group C0027888 Biomarker 0.07 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY TFG group C0027888 GeneticVariation 0.05 orphanet , disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY TRPV4 group C0027888 Biomarker 0.04 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY TRPV4 group C0027888 GeneticVariation 0.04 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY MAD2L1BP group C0027888 Biomarker 0.03 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY HK1 group C0027888 GeneticVariation 0.03 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY MAD2L1BP group C0027888 GeneticVariation 0.03 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY PXMP2 group C0027888 Biomarker 0.02 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY PXMP2 group C0027888 GeneticVariation 0.02 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY SPTLC1 group C0027888 Biomarker 0.02 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY SPTLC1 group C0027888 GeneticVariation 0.02 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY RAB7A group C0027888 GeneticVariation 0.02 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY DCAF8 group C0027888 GeneticVariation 0.01 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY SACS group C0027888 GeneticVariation 0.01 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY FA2H group C0027888 GeneticVariation 0.01 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY KRT7 group C0027888 Biomarker 0.01 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY ZFYVE26 group C0027888 GeneticVariation 0.01 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY SCLY group C0027888 Biomarker 0.01 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY AIFM1 group C0027888 GeneticVariation 0.01 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY EGF group C0027888 Biomarker 0.01 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY DNMT1 group C0027888 GeneticVariation 0.01 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY SGCG group C0027888 GeneticVariation 0.01 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY DNAJB2 group C0027888 GeneticVariation 0.01 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY PRNP group C0027888 GeneticVariation 0.01 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY EGFR group C0027888 Biomarker 0.01 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY TAL1 group C0027888 Biomarker 0.01 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY SPG7 group C0027888 GeneticVariation 0.01 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY HINT1 group C0027888 GeneticVariation 0.01 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY HMSN5 group C0027888 Biomarker 0.01 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY TPP1 group C0027888 GeneticVariation 0.01 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY ATP13A2 group C0027888 GeneticVariation 0.01 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY LCAT group C0027888 AlteredExpression 0.01 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY BICD2 group C0027888 GeneticVariation 0.01 disgenet
NEUROPATHIES HEREDITARY MOTOR SENSORY FBLN5 NA C0027888 NA NA orphanet
NEUROPATHIES HEREDITARY MOTOR SENSORY KRT1 NA C0027888 NA NA orphanet
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