Arthrogryposis multiplex congenita

Disease Term Disease ID Gene Symbol References
Arthrogryposis C0003886 ACTA1
ADCY6
ATP1A2 30690204
KIF1A
CACNA1E
CDK5
CFL2
CHAT
CHRNA1
CHRNE
CHRNG 16826520, 16826531
COL13A1
DHCR24
DYNC1H1 28554554
ERBB3
ERCC1
ERCC2
ERCC5
ERCC6 18628313
FBN2
GBA
GBE1 31680123
GCK
GFPT1
GLE1
HSPG2
IL2RB
INS
PDX1
ITGA6
ITGB4
KCNJ11
KIF5C
L1CAM 31504653
LMNA
MECP2
COX1
COX2
COX3
ND1
ND4
ND5
ND6
TRNF
TRNH
TRNL1
TRNQ
TRNS1
TRNS2
TRNW
MUSK
MYBPC1
MYH3
MYH8
MYO9A 9819351, 22305756, 10409426, 26752647
MYOD1
NEB
ROR2 31680123
NUP88
PI4KA
PLAGL1
PLEC
PLOD2
PPP3CA
PSMB8
RAPSN 31680123
REV3L
RYR1 31680123
SCN5A 31680123
SLC6A9
SLC18A3 31059209
SLC25A1
SMN1 8787675
SNAP25
SOX10
STAT3
ABCC8
VAMP1
TBCD
TNNI2 23850728
TNNT3 19142688, 12592607
TPM2 23413262
TPM3
TTN 28716623
UBA1
FZD3
CNTNAP1
AIMP1
TRIP4
ZNHIT3
ECEL1
KIF14
ALG3
ZMPSTE24
KLHL41
SLC9A6
PLXND1
BICD2 30054298
SYNE1
VPS8 23840658, 8969229, 26752647
PIP5K1C
SLC35A3
KAT6B
SHPK
SETBP1 31680123
AUTS2
PHGDH
VPS33B 18853461
PSAT1
ASCC1 28749478
SEPSECS
MAGEL2 26365340, 24076603
CEP55
ZC4H2
LMOD3
HYMAI
ADGRG6
ERGIC1
TRPV4
SLC5A7
FKBP10
VIPAS39 26808426, 27604308
PIEZO2 27974811, 31680123
ZNF335
KIAA1109
GFM2 26016410
MYPN
MTRFR
NEK9
RFT1
PIGS
CHST14
SYT2
KLHL40
LGI4 16341215, 28318499
IBA57
STAC3
ASPM 31680123
TSEN54
DOK7
GLDN 31680123
ZFP57
AGRN
KBTBD13
Arthrogryposis multiplex congenita, distal, X-linked C1844934 UBA1 18179898, 23518311
ZC4H2 23623388