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Diseases
Genes (886)
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TTR
Hereditary Transthyretin Amyloidosis
Fabry Disease
GLA
Fabry Disease
PORCN
Focal Dermal Hypoplasia
TGFBR2
Shprintzen-Goldberg Syndrome
Loeys-Dietz Syndrome
TGFBR1
Shprintzen-Goldberg Syndrome
Loeys-Dietz Syndrome
PAX3
Alport Syndrome
Waardenburg Syndrome Type I
PKD2
Polycystic Kidney Disease, Autosomal Dominant
AFG3L2
Spinocerebellar Ataxia Type 28
SMARCAL1
Schimke Immunoosseous Dysplasia
ENG
Hereditary Hemorrhagic Telangiectasia
OTOF
Otof-Related Deafness
DCN
Polycystic Kidney Disease, Autosomal Dominant
Congenital Stromal Corneal Dystrophy
CREBBP
Rubinstein-Taybi Syndrome
TGFB2
Loeys-Dietz Syndrome
Polycystic Kidney Disease, Autosomal Dominant
Hereditary Hemorrhagic Telangiectasia
PKD1
Polycystic Kidney Disease, Autosomal Dominant
WNT5A
Ror2-Related Robinow Syndrome
CDKN1C
Polycystic Kidney Disease, Autosomal Dominant
Beckwith-Wiedemann Syndrome
TTN
Salih Myopathy
Arrhythmogenic Right Ventricular Cardiomyopathy
SKI
Shprintzen-Goldberg Syndrome
Polycystic Kidney Disease, Autosomal Dominant
TAF1
X-Linked Dystonia-Parkinsonism