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Diseases
Genes (1028)
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TGFBR2
Membranoproliferative Glomerulonephritis
Dural Arteriovenous Fistula
Arterial Tortuosity Syndrome
Congenital Contractural Arachnodactyly
Loeys–dietz Syndrome
SMAD4
Juvenile Polyposis Syndrome
Congenital Contractural Arachnodactyly
SLC6A19
Hartnup Disease
BMPR1A
Juvenile Polyposis Syndrome
FBN2
Congenital Contractural Arachnodactyly
TTPA
Familial Isolated Vitamin E Deficiency
F12
Factor Xii Deficiency
CPT1A
Carnitine Palmitoyltransferase I Deficiency
SLC2A10
Arterial Tortuosity Syndrome
Cutis Laxa
TGFBR1
Arterial Tortuosity Syndrome
Loeys–dietz Syndrome
FGFR1
Cyclopia
Fibrolamellar Hepatocellular Carcinoma
Congenital Contractural Arachnodactyly
Jackson–weiss Syndrome
SLC17A5
Salla Disease
MED12
Fg Syndrome
PQBP1
Renpenning's Syndrome
FGFR2
Fibrolamellar Hepatocellular Carcinoma
Congenital Contractural Arachnodactyly
Jackson–weiss Syndrome
MOCOS
Xanthinuria, Type Ii
GALE
Galactose Epimerase Deficiency
ELN
Arterial Tortuosity Syndrome
Cutis Laxa
FBLN5
Cutis Laxa
IFIH1
Singleton Merten Syndrome