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Diseases
Genes (1281)
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TGFBR2
Uterine Rupture
Shprintzen-Goldberg Syndrome
Aneurysm
Loeys-Dietz Syndrome
Loeys–dietz Syndrome
TGFBR1
Diverticulum
Uterine Rupture
Shprintzen-Goldberg Syndrome
Loeys-Dietz Syndrome
Loeys–dietz Syndrome
TGFB2
Loeys-Dietz Syndrome
Hereditary Hemorrhagic Telangiectasia
Loeys–dietz Syndrome
PORCN
Focal Dermal Hypoplasia
Omphalocele
SMAD3
Aneurysm
Loeys-Dietz Syndrome
Beckwith-Wiedemann Syndrome
Loeys–dietz Syndrome
TTR
Hereditary Transthyretin Amyloidosis
Fabry Disease
GLA
Fabry Disease
Gaucher Disease
ENG
Bronchopulmonary Dysplasia
Hereditary Hemorrhagic Telangiectasia
SALL4
Duane-Radial Ray Syndrome
SMARCAL1
Schimke Immunoosseous Dysplasia
CDKN1C
Beckwith-Wiedemann Syndrome
Omphalocele
CREBBP
Rubinstein-Taybi Syndrome
GBA
Gaucher Disease
COL2A1
Collagen, Type Ii, Alpha-1
TGFB3
Arrhythmogenic Right Ventricular Cardiomyopathy
Loeys-Dietz Syndrome
Loeys–dietz Syndrome
WNT5A
Ror2-Related Robinow Syndrome
FBN1
Shprintzen-Goldberg Syndrome
Hereditary Transthyretin Amyloidosis
Aneurysm
Loeys-Dietz Syndrome
TMC6
Epidermodysplasia Verruciformis
TAF1
X-Linked Dystonia-Parkinsonism
ABCC9
Cantú Syndrome