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Diseases
Genes (823)
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BLM
Bloom Syndrome
IFIH1
Singleton Merten Syndrome
SMARCD1
Foot Deformity
Hand Deformity
PIGB
Foot Deformity
Hand Deformity
TBXT
Chordoma
FGFR2
Hallux Varus
Joint Stiffness
Ankylosis
FBN1
Hallux Varus
Joint Stiffness
Genu Recurvatum
Hammer Toe
TRPV4
Foot Deformity
Joint Stiffness
Hammer Toe
Contracture
Coxa Vara
PTPN22
Joint Stiffness
Giant Cell Arteritis
RB1
Pinealoblastoma
Trilateral Retinoblastoma
ADAMTSL2
Joint Stiffness
Contracture
ANTXR2
Joint Stiffness
Contracture
COL1A1
Joint Stiffness
Contracture
Coxa Vara
PQBP1
Ankylosis
Contracture
PRG4
Contracture
Coxa Vara
LMNA
Foot Deformity
Joint Stiffness
Ankylosis
Contracture
UNG
Bloom Syndrome
DDX58
Singleton Merten Syndrome
COL2A1
Foot Deformity
Joint Stiffness
Contracture
Coxa Vara
EIF4A3
Hand Deformity