Charcot-marie-tooth disease

Disease Term Disease ID Gene Symbol Classification References Source
CHARCOT-MARIE-TOOTH DISEASE
C0007959MONDO:0015626PS118220MESH:D002607
CNTNAP2 Unknown — Disgenet
COX6A1 Unknown — Disgenet
DCTN1 Unknown — ClinVar Disgenet
DCTN2 Unknown — ClinVar Disgenet
DGAT2 Unknown — ClinVar Disgenet GenCC
DHTKD1 Unknown — ClinVar Disgenet
DST Unknown — Disgenet
FBLN5 Unknown — Disgenet
FBXO38 Unknown — Disgenet
GAN Unknown — Disgenet
GNB4 Unknown
11842130 23434117 27908631 28642160 28793249
ClinGen ClinVar Disgenet GWAS catalog
HADHB Unknown — Disgenet
HARS1 Unknown — ClinVar Disgenet
HK1 Unknown — Disgenet
HOXD10 Unknown
15146389
CTD Disgenet
HSPB3 Unknown — ClinVar
IFRD1 Unknown — Disgenet
ITPR3 Unknown — Disgenet
JAG1 Unknown — Disgenet
JPH1 Unknown — Disgenet
KARS1 Unknown — Disgenet
KIF1B Unknown — ClinVar Disgenet
KIF5A Unknown — ClinVar
LAMA2 Unknown — Disgenet
MARS1 Unknown
11714285 23729695 24354524 27025386 27717217 29582526 31356216 32219202
ClinGen ClinVar Disgenet GWAS catalog
MCM3AP Unknown — ClinVar
MED25 Unknown — ClinVar Disgenet
MME Unknown
35212467
CTD ClinVar Disgenet
MPV17 Unknown — ClinVar
MYH14 Unknown — Disgenet
NEFH Unknown — ClinVar
NGF Unknown — Disgenet
NRG1 Unknown — Disgenet
PDK3 Unknown — ClinVar Disgenet
PLD3 Unknown — Disgenet
PLEKHG5 Unknown — ClinVar Disgenet
PMP2 Unknown
26257172 26828946 27009151 28447247 30249361 31412900 32277537 3323886 37238449
ClinGen Disgenet GWAS catalog
POLG Unknown — Disgenet
POLR2F Unknown — Disgenet
POLR3B Unknown — Disgenet
PRPS1 Unknown — Disgenet
PTRH2 Unknown — ClinVar
RAB33A Unknown — Disgenet
SCN11A Unknown — Disgenet
SCN9A Unknown — Disgenet
SDHC Unknown — Disgenet
SEMA5A Unknown — Disgenet
SEPTIN9 Unknown — Disgenet
SETX Unknown — ClinVar Disgenet
SGPL1 Unknown — ClinVar