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Diseases
Genes (1236)
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TGFBR2
Uterine Rupture
Shprintzen-Goldberg Syndrome
Aneurysm
Loeys-Dietz Syndrome
PORCN
Focal Dermal Hypoplasia
Omphalocele
TGFBR1
Uterine Rupture
Shprintzen-Goldberg Syndrome
Loeys-Dietz Syndrome
TTR
Hereditary Transthyretin Amyloidosis
Fabry Disease
GLA
Fabry Disease
Gaucher Disease
ASL
Argininosuccinic Aciduria
ENG
Bronchopulmonary Dysplasia
Hereditary Hemorrhagic Telangiectasia
SALL4
Duane-Radial Ray Syndrome
PMM2
Pmm2 Deficiency
Familial Hemiplegic Migraine
SMARCAL1
Schimke Immunoosseous Dysplasia
CDKN1C
Beckwith-Wiedemann Syndrome
Omphalocele
CREBBP
Rubinstein-Taybi Syndrome
GBA
Gaucher Disease
TGFB2
Loeys-Dietz Syndrome
Hereditary Hemorrhagic Telangiectasia
WNT5A
Ror2-Related Robinow Syndrome
FBN1
Shprintzen-Goldberg Syndrome
Hereditary Transthyretin Amyloidosis
Aneurysm
Loeys-Dietz Syndrome
TTN
Salih Myopathy
Arrhythmogenic Right Ventricular Cardiomyopathy
TAF1
X-Linked Dystonia-Parkinsonism
ABCC9
Cantú Syndrome
SMAD3
Aneurysm
Loeys-Dietz Syndrome
Beckwith-Wiedemann Syndrome