Disease Term Disease ID Gene Symbol References
Flexion contracture - elbow C0409338 ACTA1
ATR
CAPN3
COL6A1
COL6A2
COL6A3
COL12A1
CPT2
SLC26A2
EMD 10382909, 8595433
ERCC6
FBN2
FHL1
FLNA
GJB2
ITGA7
LIFR
LMNA
MYH3
MYL2
DDR2
PIK3C2A
PITX1
PLOD2
PSEN1 24121961
PSMB8
PYCR1
ALDH18A1
SLC6A9
SNRPB
TBX15
TFAP2A
TPM2
TPM3
WNT7A
PLA2G6
PLOD3
HACD1
LARGE1
CRLF1
ECEL1
CHST3
RUBCN
PTDSS1
ERLIN2
SYNE2
SYNE1
SIK3
NIPBL
B3GAT3
MAP3K20
P4HTM
SLC29A3
SELENON
TRPV4
FKBP10
SLC39A8
IRF2BPL
TMEM43
SRD5A3
SPRTN
PIGY
SCARF2
ANTXR2
ADSS1
ESCO2
LGI4
ANO5
NALCN
KY
RNU4ATAC