Disease Term Disease ID Gene Symbol References
Distal amyotrophy C1848736 ABCA1
AGL
ANG
ATP7A
KIF1A
CHAT
COL13A1
DCTN1
DNM2
TYMP
EGR2
B4GALNT1
GARS1
GJB1
HSPB1
IGHMBP2
LMNA
ATXN3
MME
MPV17
MPZ
MRE11
MYO9A
NDUFA9
NEFL
PMP22
POLG
PRPS1
ATXN1
ATXN2
SDHA
SDHB
SDHD
SLC18A3
SLC25A1
SNAP25
SOX10
SPAST
VAMP1
TBCE
TIA1
VCP
RAB7A
GAN
DYSF
YARS1
MTMR2
MYOT
LITAF
MFN2
GNE
STUB1
SIGMAR1
NDRG1
FBLN5
KIF1C
PNPLA6
AFG3L2
CHP1
CCT5
SETX
KIF1B
SPART
ZFYVE26
ABHD12
ZBTB20
SACS
HSPB8
BSCL2
LRP12
DCAF8
ATL1
GDAP1
APTX
MSTO1
VPS13D
ATAD3A
TDP1
ZC4H2
JPH1
PLEKHG5
ALS2
GBA2
PRX
SPTBN4
TRPV4
SLC5A7
KLC2
REEP1
COA7
SH3TC2
MYH14
SPG11
COASY
SBF2
MED25
C19orf12
LRSAM1
ADSS1
SYT2
IBA57
ANO5
DOK7
AGRN
SDHAF1