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Diseases
Genes (1255)
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TGFBR2
Cutis Marmorata
Adams-Oliver Syndrome
Uterine Rupture
Shprintzen-Goldberg Syndrome
Aneurysm
Loeys-Dietz Syndrome
TGFBR1
Cutis Marmorata
Adams-Oliver Syndrome
Uterine Rupture
Shprintzen-Goldberg Syndrome
Loeys-Dietz Syndrome
IKBKG
Osteopetrosis And Related Disorders
Incontinentia Pigmenti
TTR
Hereditary Transthyretin Amyloidosis
Fabry Disease
GLA
Fabry Disease
PORCN
Focal Dermal Hypoplasia
SALL4
Duane-Radial Ray Syndrome
TGFB2
Cutis Marmorata
Loeys-Dietz Syndrome
SMARCAL1
Schimke Immunoosseous Dysplasia
FBN1
Cutis Marmorata
Shprintzen-Goldberg Syndrome
Hereditary Transthyretin Amyloidosis
Aneurysm
Loeys-Dietz Syndrome
SMAD3
Cutis Marmorata
Adams-Oliver Syndrome
Aneurysm
Loeys-Dietz Syndrome
CREBBP
Rubinstein-Taybi Syndrome
DOCK6
Cutis Marmorata
Adams-Oliver Syndrome
NOTCH1
Cutis Marmorata
Adams-Oliver Syndrome
Cutis Marmorata Telangiectatica Congenita
Malignant Peripheral Nerve Sheath Tumor
Hereditary Transthyretin Amyloidosis
Fabry Disease
Schimke Immunoosseous Dysplasia
WNT5A
Ror2-Related Robinow Syndrome
ARHGAP31
Cutis Marmorata
Adams-Oliver Syndrome
TREX1
Cutis Marmorata
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
TTN
Salih Myopathy
Arrhythmogenic Right Ventricular Cardiomyopathy
SKI
Shprintzen-Goldberg Syndrome
EOGT
Cutis Marmorata
Adams-Oliver Syndrome