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Diseases
Genes (1341)
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IKBKG
Osteopetrosis And Related Disorders
Incontinentia Pigmenti
TTR
Hereditary Transthyretin Amyloidosis
Fabry Disease
GLA
Fabry Disease
Gaucher Disease
PORCN
Focal Dermal Hypoplasia
SALL4
Duane-Radial Ray Syndrome
COL2A1
Collagen, Type Ii, Alpha-1
Osteopetrosis And Related Disorders
CREBBP
Rubinstein-Taybi Syndrome
DOCK6
Cutis Marmorata
Adams-Oliver Syndrome
GBA
Gaucher Disease
NOTCH1
Cutis Marmorata
Adams-Oliver Syndrome
Cutis Marmorata Telangiectatica Congenita
Malignant Peripheral Nerve Sheath Tumor
Hereditary Transthyretin Amyloidosis
Fabry Disease
ARHGAP31
Cutis Marmorata
Adams-Oliver Syndrome
WNT5A
Ror2-Related Robinow Syndrome
TTN
Salih Myopathy
Arrhythmogenic Right Ventricular Cardiomyopathy
FBN1
Cutis Marmorata
Shprintzen-Goldberg Syndrome
Hereditary Transthyretin Amyloidosis
Aneurysm
SKI
Shprintzen-Goldberg Syndrome
EOGT
Cutis Marmorata
Adams-Oliver Syndrome
DLL4
Cutis Marmorata
Adams-Oliver Syndrome
Bronchopulmonary Dysplasia
TEK
Multiple Cutaneous And Mucosal Venous Malformations
ENPP1
Generalized Arterial Calcification Of Infancy
COL4A3
Alport Syndrome