Disease Term Disease ID Gene Symbol References
Sprengel deformity C0152438 BRAF
COL3A1
EFNB1
EMD
FHL1
HSPG2
LMNA
MEOX1
NPR2
PAX3
PTCH1
PTPN11
RAF1
RPL11
TBX2
TBX5
TBX3
THRB
PTCH2
GDF3
SF3B4
SEPTIN9
SYNE2
SYNE1
SUFU
TMCO1
TMEM43
THOC6
GDF6