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Diseases
Genes (976)
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PORCN
Focal Dermal Hypoplasia
UROS
Congenital Erythropoietic Porphyria
TTR
Hereditary Transthyretin Amyloidosis
Fabry Disease
GLA
Fabry Disease
PTCH1
Nevoid Basal Cell Carcinoma Syndrome
SUFU
Nevoid Basal Cell Carcinoma Syndrome
RASA1
Capillary Malformation-Arteriovenous Malformation Syndrome
Lymphangioma
Usual Interstitial Pneumonia
PTCH2
Nevoid Basal Cell Carcinoma Syndrome
SKI
Shprintzen-Goldberg Syndrome
TTN
Salih Myopathy
COL4A5
Usual Interstitial Pneumonia
Alport Syndrome
ENPP1
Generalized Arterial Calcification Of Infancy
COL4A3
Alport Syndrome
LIPA
Lysosomal Acid Lipase Deficiency
ABCC6
Generalized Arterial Calcification Of Infancy
GATA1
Congenital Erythropoietic Porphyria
NOS3
Fabry Disease
Pulmonary Edema
FBN1
Pterygium Of The Conjunctiva And Cornea
Shprintzen-Goldberg Syndrome
Hereditary Transthyretin Amyloidosis
AP3D1
Albinism
VEGFA
Callosity
Pterygium Of The Conjunctiva And Cornea
Usual Interstitial Pneumonia
Hereditary Transthyretin Amyloidosis
Fabry Disease
Pulmonary Edema