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Diseases
Genes (795)
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PQBP1
Ankylosis
Contracture
Renpenning's Syndrome
TTPA
Hammer Toe
Familial Isolated Vitamin E Deficiency
EFHC1
Juvenile Myoclonic Epilepsy
IFIH1
Singleton Merten Syndrome
GABRA1
Juvenile Myoclonic Epilepsy
SMARCD1
Foot Deformity
Hand Deformity
PIGB
Foot Deformity
Hand Deformity
DMPK
Myotonic Dystrophy
GABRD
Joint Stiffness
Juvenile Myoclonic Epilepsy
Unequal Leg Length
TRPV4
Foot Deformity
Joint Stiffness
Hammer Toe
Contracture
Coxa Vara
Unequal Leg Length
FGFR2
Hallux Varus
Joint Stiffness
Ankylosis
CACNB4
Juvenile Myoclonic Epilepsy
JRK
Juvenile Myoclonic Epilepsy
FBN1
Hallux Varus
Joint Stiffness
Genu Recurvatum
Hammer Toe
COL2A1
Foot Deformity
Joint Stiffness
Contracture
Coxa Vara
Unequal Leg Length
RB1
Pinealoblastoma
Trilateral Retinoblastoma
ADAMTSL2
Joint Stiffness
Contracture
ANTXR2
Joint Stiffness
Contracture
COL1A1
Joint Stiffness
Contracture
Coxa Vara
PRG4
Contracture
Coxa Vara