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Diseases
Genes (646)
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GLA
Fabry Disease
TTR
Fabry Disease
Hereditary Transthyretin Amyloidosis
PORCN
Focal Dermal Hypoplasia
TGFBR2
Shprintzen-Goldberg Syndrome
Loeys-Dietz Syndrome
TGFBR1
Shprintzen-Goldberg Syndrome
Loeys-Dietz Syndrome
Sptlc1-Related Hereditary Sensory Neuropathy
LMX1B
Nail-Patella Syndrome
PAX3
Alport Syndrome
Waardenburg Syndrome Type I
AFG3L2
Spinocerebellar Ataxia Type 28
SMARCAL1
Schimke Immunoosseous Dysplasia
ENG
Hereditary Hemorrhagic Telangiectasia
OTOF
Otof-Related Deafness
CREBBP
Rubinstein-Taybi Syndrome
TGFB2
Loeys-Dietz Syndrome
Hereditary Hemorrhagic Telangiectasia
WNT5A
Ror2-Related Robinow Syndrome
TTN
Salih Myopathy
Arrhythmogenic Right Ventricular Cardiomyopathy
SPTLC1
Sptlc1-Related Hereditary Sensory Neuropathy
TAF1
X-Linked Dystonia-Parkinsonism
DCAF17
Woodhouse-Sakati Syndrome
SKI
Shprintzen-Goldberg Syndrome
ADNP
Adnp-Related Intellectual Disability And Autism Spectrum Disorder