Charcot-marie-tooth disease

Disease Term Disease ID Gene Symbol Classification References Source
CHARCOT-MARIE-TOOTH DISEASE
C0007959MONDO:0015626PS118220MESH:D002607
DRP2 Causal — ClinVar Disgenet GenCC
DYNC1H1 Causal — ClinVar Disgenet
EGR2 Causal
11523566 15695336 16373334 17325040 17717711 19244508 20513111 26204789 27159987 30481651 30843326 31852952 32896048 7935840 9537424
ClinGen ClinVar Disgenet GWAS catalog
ELP1 Causal — Disgenet
FGD4 Causal
15744041 17564959 17564972 19221294 19332693 23171661
ClinGen Disgenet GWAS catalog
FIG4 Causal
16364647 17572665 21705420 23623387 24598713
CTD ClinGen Disgenet GenCC
GARS1 Causal — Disgenet
GDAP1 Causal
11743579 11743580 12499475 15805163 16172208 18492089 24480485 25122658
ClinGen Disgenet GWAS catalog
GJB1 Causal — Disgenet
HINT1 Causal
22961002 24105373 25342199 26059562 30001929 31088288 33404983
ClinGen ClinVar Disgenet GWAS catalog
HSPB1 Causal — ClinVar Disgenet
HSPB8 Causal — ClinVar Disgenet
IGHMBP2 Causal — ClinVar Disgenet
INF2 Causal — ClinVar Disgenet
LITAF Causal
12525712 15776429 16787513 19541485 23359569 24880540 27927196 28211240
ClinGen ClinVar Disgenet GWAS catalog
LMNA Causal — ClinVar Disgenet
LRSAM1 Causal
20865121
CTD ClinVar Disgenet
MFN2 Causal — Disgenet
MORC2 Causal
28581500
CTD ClinVar Disgenet
MPZ Causal
10212299 10406984 10553995 15326256 16495463 1724420 19344920 22689911 23290023 7358790 7506095 7693129 9168174 9595994
CTD ClinGen Disgenet
MTMR2 Causal — ClinVar Disgenet
NAGLU Causal — ClinVar Disgenet
NDRG1 Causal — ClinVar Disgenet
NEFL Causal
10841809 11220745 12477167 12481988 12566280 14733962 17881652 18758688 25552649 28501821 28654681 31715019 34485306 9388258 9398473
ClinGen ClinVar Disgenet GWAS catalog
NTRK1 Causal — Disgenet
PMP22 Causal
17275665 17303424 19427269
CTD ClinVar Disgenet
PRX Causal — ClinVar Disgenet
RAB7A Causal — ClinVar Disgenet
REEP1 Causal — Disgenet
RETREG1 Causal — Disgenet
SBF1 Causal — ClinVar Disgenet
SBF2 Causal — ClinVar Disgenet
SH3TC2 Causal — Disgenet
SLC12A6 Causal — Disgenet
SPTLC1 Causal — ClinVar Disgenet
SPTLC2 Causal — Disgenet
TRPV4 Causal
22187434
CTD Disgenet
TTR Causal — Disgenet
YARS1 Causal
14606043 16429158 19561293 21732632 24354524 24627108 26138142 26257172 27027447 30373780 31695036
ClinGen ClinVar Disgenet GenCC
ABHD12 Unknown — ClinVar
AHNAK2 Unknown — Disgenet GenCC
AIFM1 Unknown — ClinVar Disgenet
ARF1 Unknown — Disgenet
ARHGEF10 Unknown — ClinVar Disgenet
ATP6 Unknown — Disgenet
BAG3 Unknown — ClinVar
BICD2 Unknown — Disgenet
CADM3 Unknown — Disgenet
CFAP276 Unknown — Disgenet GenCC
CNTNAP1 Unknown — ClinVar