Disease Term Disease ID Gene Symbol Classification References Source
DEJERINE-SOTTAS DISEASE EGR2 Causal ClinVar Disgenet
GJB1 Causal Disgenet
MPZ Causal ClinVar Disgenet
PMP22 Causal ClinVar Disgenet
PRX Causal ClinVar Disgenet
AARS1 Unknown Disgenet
AIFM1 Unknown Disgenet
COX6A1 Unknown Disgenet
DHTKD1 Unknown Disgenet
DYNC1H1 Unknown Disgenet
FGD4 Unknown Disgenet
FIG4 Unknown Disgenet
GARS1 Unknown Disgenet
GDAP1 Unknown Disgenet
GNB4 Unknown Disgenet
HK1 Unknown Disgenet
HSPB1 Unknown Disgenet
HSPB8 Unknown Disgenet
INF2 Unknown Disgenet
JPH1 Unknown Disgenet
KARS1 Unknown Disgenet
KIF1B Unknown Disgenet
LRSAM1 Unknown Disgenet
MARS1 Unknown Disgenet
MFN2 Unknown Disgenet
MME Unknown Disgenet
NDRG1 Unknown Disgenet
NEFL Unknown Disgenet
PDK3 Unknown Disgenet
PLEKHG5 Unknown Disgenet
PRPS1 Unknown Disgenet
SBF1 Unknown Disgenet
SH3TC2 Unknown Disgenet
SLC12A6 Unknown Disgenet
SURF1 Unknown Disgenet
TRIM2 Unknown Disgenet
TRPV4 Unknown Disgenet
VCP Unknown Disgenet
DEJERINE-SOTTAS SYNDROME EGR2 Unknown Orphanet
MPZ Unknown Orphanet
PMP22 Unknown Orphanet
PRX Unknown Orphanet