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Diseases
Genes (806)
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COL3A1
Aneurysm
Uterine Rupture
Ehlers-Danlos Syndrome, Vascular Type
NEXN
Cardiomyopathy, Familial Hypertrophic, 20
Cardiomyopathy, Dilated, 1y
PRNP
Kuru
Variant Creutzfeldt–jakob Disease
FXN
Friedreich Ataxia 1
SRD5A2
5-Alpha Reductase Deficiency
PDGFB
Primary Familial Brain Calcification
Meningioma, Familial, Susceptibility To
DICER1
Pleuropulmonary Blastoma
SLC20A2
Primary Familial Brain Calcification
PDGFRB
Primary Familial Brain Calcification
IFNGR2
Immunodeficiency 28
FOXF1
Polyhydramnios
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
TTN
Cardiomyopathy, Dilated, 1y
PLD1
Cardiac Valvular Defect, Developmental
RBM20
Cardiomyopathy, Dilated, 1y
TNNT2
Cardiomyopathy, Dilated, 1y
Friedreich Ataxia 1
SCN5A
Cardiomyopathy, Dilated, 1y
BAG3
Cardiomyopathy, Dilated, 1y
MYH7
Cardiomyopathy, Dilated, 1y
RAF1
Cholesteatoma
Cardiomyopathy, Dilated, 1y
Polyhydramnios
PTEN
Meningioma, Familial, Susceptibility To