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Diseases
Genes (1218)
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TGFBR2
Uterine Rupture
Shprintzen-Goldberg Syndrome
Aneurysm
Loeys-Dietz Syndrome
TGFBR1
Uterine Rupture
Shprintzen-Goldberg Syndrome
Loeys-Dietz Syndrome
TTR
Hereditary Transthyretin Amyloidosis
Fabry Disease
GLA
Fabry Disease
PMM2
Pmm2 Deficiency
Familial Hemiplegic Migraine
PORCN
Focal Dermal Hypoplasia
ASL
Argininosuccinic Aciduria
SALL4
Duane-Radial Ray Syndrome
ENG
Bronchopulmonary Dysplasia
Hereditary Hemorrhagic Telangiectasia
SMARCAL1
Schimke Immunoosseous Dysplasia
CREBBP
Rubinstein-Taybi Syndrome
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
SMAD3
Aneurysm
Loeys-Dietz Syndrome
Beckwith-Wiedemann Syndrome
CDKN1C
Beckwith-Wiedemann Syndrome
ABCC9
Cantú Syndrome
TAZ
Barth Syndrome