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Diseases
Genes (1101)
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ASL
Argininosuccinic Aciduria
PMM2
Pmm2 Deficiency
ENG
Telangiectasia, Hereditary Hemorrhagic, Type 1
FBN2
Congenital Contractural Arachnodactyly
TTPA
Familial Isolated Vitamin E Deficiency
GLMN
Glomuvenous Malformation
DNAJC19
3-Methylglutaconic Aciduria, Type V
BRAF
Pilocytic Astrocytoma
Intraductal Papillary Mucinous Neoplasm
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pleomorphic Xanthoastrocytoma
Congenital Contractural Arachnodactyly
KRAS
Pilocytic Astrocytoma
Intraductal Papillary Mucinous Neoplasm
Fibrolamellar Hepatocellular Carcinoma
Pleomorphic Xanthoastrocytoma
Congenital Contractural Arachnodactyly
PQBP1
Renpenning's Syndrome
TEK
Glomuvenous Malformation
Venous Malformations, Multiple Cutaneous And Mucosal
Congenital Contractural Arachnodactyly
FAM20A
Enamel-Renal Syndrome
GALE
Galactose Epimerase Deficiency
IFIH1
Singleton Merten Syndrome
NF1
Pilocytic Astrocytoma
Aneurysm
CFH
Membranoproliferative Glomerulonephritis
Enteritis
ACVRL1
Telangiectasia, Hereditary Hemorrhagic, Type 1
TP53
Pilocytic Astrocytoma
Intraductal Papillary Mucinous Neoplasm
Fibrolamellar Hepatocellular Carcinoma
Pleomorphic Xanthoastrocytoma
Congenital Contractural Arachnodactyly
ASS1
Argininosuccinic Aciduria
Congenital Contractural Arachnodactyly
Citrullinemia Type I
GDF2
Telangiectasia, Hereditary Hemorrhagic, Type 1