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Diseases
Genes (1465)
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RB1
Pinealoblastoma
Trilateral Retinoblastoma
Retinoblastoma
PQBP1
Ankylosis
Contracture
Renpenning's Syndrome
GALT
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
GALE
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
ASL
Argininosuccinic Aciduria
TTPA
Hammer Toe
Familial Isolated Vitamin E Deficiency
PMM2
Pmm2 Deficiency
SLC2A10
Coxa Vara
Arterial Tortuosity Syndrome
GALK1
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
PRPS1
Arts Syndrome
IFIH1
Singleton Merten Syndrome
SMARCD1
Foot Deformity
Hand Deformity
PIGB
Foot Deformity
Hand Deformity
FGFR2
Hallux Varus
Joint Stiffness
Ankylosis
Retinoblastoma
CTNS
Cystinosis
BCOR
Cubitus Valgus
Hammer Toe
Retinoblastoma
FBN1
Hallux Varus
Joint Stiffness
Genu Recurvatum
Hammer Toe
TRPV4
Foot Deformity
Joint Stiffness
Hammer Toe
Contracture
Coxa Vara
LMNA
Foot Deformity
Joint Stiffness
Ankylosis
Contracture
Retinoblastoma
ADAMTSL2
Joint Stiffness
Contracture