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Diseases
Genes (1154)
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ABHD5
Cerebral Creatine Deficiency
LDLR
Cystinosis
Hypercholesterolemia
High Cholesterol
RASA1
Klippel–trénaunay Syndrome
Vascular Malformation
Arteriovenous Fistula
Parkes Weber Syndrome
GAMT
Guanidinoacetate Methyltransferase Deficiency
APOB
Hypercholesterolemia
MPZ
Roussy–lévy Syndrome
SLC2A1
Vascular Malformation
Glucose Transporter Type 1 Deficiency Syndrome
ICOS
Common Variable Immunodeficiency
PMP22
Roussy–lévy Syndrome
NFKB2
Common Variable Immunodeficiency
PQBP1
Renpenning's Syndrome
AP1S1
Mednik Syndrome
GALE
Galactose Epimerase Deficiency
RBM8A
Thrombocytopenia Absent Radius Syndrome
RHBDF2
Howel–evans Syndrome
TGFBR1
Alopecia, Androgenetic, 1
Loeys–dietz Syndrome
Arteriovenous Fistula
IFIH1
Singleton Merten Syndrome
TGFBR2
Loeys–dietz Syndrome
APOE
Hypercholesterolemia
PCSK9
Hypercholesterolemia