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Diseases
Genes (969)
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TTR
Hereditary Transthyretin Amyloidosis
Fabry Disease
GLA
Fabry Disease
PORCN
Focal Dermal Hypoplasia
ASL
Argininosuccinic Aciduria
SALL4
Duane-Radial Ray Syndrome
PMM2
Pmm2 Deficiency
CREBBP
Rubinstein-Taybi Syndrome
WNT5A
Ror2-Related Robinow Syndrome
TTN
Salih Myopathy
Arrhythmogenic Right Ventricular Cardiomyopathy
SKI
Shprintzen-Goldberg Syndrome
COL4A3
Chandler's Syndrome
Alport Syndrome
COL4A5
Alport Syndrome
TEK
Multiple Cutaneous And Mucosal Venous Malformations
ENPP1
Generalized Arterial Calcification Of Infancy
FBN1
Shprintzen-Goldberg Syndrome
Hereditary Transthyretin Amyloidosis
Aneurysm
LIPA
Lysosomal Acid Lipase Deficiency
EP300
Rubinstein-Taybi Syndrome
ABCC6
Generalized Arterial Calcification Of Infancy
DVL3
Ror2-Related Robinow Syndrome
DVL1
Ror2-Related Robinow Syndrome