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Diseases
Genes (918)
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UBR1
Johanson-Blizzard Syndrome
FMR1
Fragile X-Associated Tremor/ataxia Syndrome
Mitral Valve Prolapse
KRAS
Fibrolamellar Hepatocellular Carcinoma
Cubitus Valgus
Ras-Associated Autoimmune Leukoproliferative Disorder
Genu Recurvatum
Mitral Valve Prolapse
PIK3CA
Cloves Syndrome
FLNB
Coxa Vara
Atelosteogenesis Type I
NRAS
Ras-Associated Autoimmune Leukoproliferative Disorder
Genu Recurvatum
GALE
Galactose Epimerase Deficiency
SMARCD1
Foot Deformity
Hand Deformity
PIGB
Foot Deformity
Hand Deformity
DMPK
Myotonic Dystrophy
FBN1
Hallux Varus
Joint Stiffness
Genu Recurvatum
Hammer Toe
Mitral Valve Prolapse
FGFR2
Hallux Varus
Fibrolamellar Hepatocellular Carcinoma
Joint Stiffness
Ankylosis
COL1A1
Joint Stiffness
Contracture
Coxa Vara
Mitral Valve Prolapse
LTBP3
Joint Stiffness
Mitral Valve Prolapse
LMNA
Foot Deformity
Joint Stiffness
Ankylosis
Contracture
Fragile X-Associated Tremor/ataxia Syndrome
Mitral Valve Prolapse
PRKACA
Fibrolamellar Hepatocellular Carcinoma
DNAJB1
Fibrolamellar Hepatocellular Carcinoma
TRPV4
Foot Deformity
Joint Stiffness
Hammer Toe
Contracture
Coxa Vara
COL2A1
Foot Deformity
Joint Stiffness
Contracture
Coxa Vara
Mitral Valve Prolapse
CNBP
Myotonic Dystrophy