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Diseases
Genes (1269)
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ABHD5
Cerebral Creatine Deficiency
MYO5B
Microvillus Inclusion Disease
GAMT
Guanidinoacetate Methyltransferase Deficiency
FBN2
Congenital Contractural Arachnodactyly
LDLR
Cystinosis
Hypercholesterolemia
APOB
Hypercholesterolemia
ALS2
Infantile-Onset Ascending Hereditary Spastic Paralysis
GALE
Galactose Epimerase Deficiency
MC2R
Familial Glucocorticoid Deficiency
APOE
Hypercholesterolemia
PCSK9
Hypercholesterolemia
CYP7A1
Hypercholesterolemia
IFIH1
Singleton Merten Syndrome
LPL
Hypercholesterolemia
PON1
Membranoproliferative Glomerulonephritis
Hypercholesterolemia
CFH
Membranoproliferative Glomerulonephritis
HMGCR
Hypercholesterolemia
ABCA1
Congenital Contractural Arachnodactyly
Hypercholesterolemia
LEP
Alopecia, Androgenetic, 1
Hypercholesterolemia
STX3
Microvillus Inclusion Disease