Disease Term Disease ID Gene Symbol References
Arachnodactyly C0003706 ABL1 28288113
ACTA2
ACTG2
ARVCF
BCR
CBS
CTSC
CHN1
CHRNG
CNTN1
COL1A1
COL2A1
COL5A1
COL5A2
COL11A1
COMT
CRKL
ELN
FBN1 22772368
FBN2
FGFR3
FGFR2
FOXE3
FLNA
FSHR
NR5A1
GP1BB
LETM1
LOX
SMAD3
MAT2A
MTM1
MYH11
MYLK
NPR2
NPR3 10468599
PEPD
PLOD1
POR
PRKG1
MAPK1
PSMB8
PTCH1
RREB1
SKI
SMARCE1
SMS
SON
TBX1
TGFB2
TGFB3
TGFBR1
TGFBR2
HIRA
UFD1
WFS1
NSD2
NELFA
MFAP5
LAGE3
FZD4 17103440
PTCH2
HERC1
BMP15
SEC24C
TMEM94
MED12
PQBP1
STUB1
FBLN5
PRDM5
B4GALT7
SATB2
SPIDR
SIN3A
SH2B1
STRN4
PSMC3IP
PYCR2
DSE
EFEMP2
ZDHHC9
OTUD6B
SUFU
OSGEP
CYP26B1
MRPS22
NUP107
PIEZO2
UPF3B
FKRP
ASXL3
SLC2A10
TRIM8
ZNF469
UBE3B
SCARF2
CHST14
AMER1
VPS13B
JMJD1C
KANSL1