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Diseases
Genes (1235)
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COL2A1
Coxa Vara
Foot Deformity
Joint Stiffness
Collagen, Type Ii, Alpha-1
Splenomegaly
Contracture
Unequal Leg Length
SHH
Cyclopia
Holoprosencephaly
TTPA
Hammer Toe
Familial Isolated Vitamin E Deficiency
EFHC1
Myoclonic Epilepsy, Juvenile, Susceptibility To, 3
SIX3
Cyclopia
Holoprosencephaly
TGIF1
Cyclopia
Holoprosencephaly
GLI2
Cyclopia
Holoprosencephaly
KRAS
Cubitus Valgus
Genu Recurvatum
Splenomegaly
Fibrolamellar Hepatocellular Carcinoma
Unequal Leg Length
NODAL
Cyclopia
Holoprosencephaly
GABRA1
Myoclonic Epilepsy, Juvenile, Susceptibility To, 3
PTCH1
Cyclopia
Holoprosencephaly
Unequal Leg Length
SMARCD1
Foot Deformity
Hand Deformity
PIGB
Foot Deformity
Hand Deformity
ZIC2
Cyclopia
Holoprosencephaly
FGF8
Hand Deformity
Cyclopia
Holoprosencephaly
CDON
Cyclopia
Holoprosencephaly
IL6
Aseptic Meningitis
Splenomegaly
Familial Isolated Vitamin E Deficiency
Systemic Inflammatory Response Syndrome
FGFR2
Hallux Varus
Joint Stiffness
Ankylosis
Fibrolamellar Hepatocellular Carcinoma
TRPV4
Coxa Vara
Foot Deformity
Joint Stiffness
Hammer Toe
Contracture
Unequal Leg Length
DISP1
Cyclopia
Holoprosencephaly