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Diseases
Genes (1408)
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BRAF
Pilocytic Astrocytoma
Intraductal Papillary Mucinous Neoplasm
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pleomorphic Xanthoastrocytoma
Congenital Contractural Arachnodactyly
Splenomegaly
Langerhans Cell Histiocytosis
KRAS
Pilocytic Astrocytoma
Intraductal Papillary Mucinous Neoplasm
Fibrolamellar Hepatocellular Carcinoma
Pleomorphic Xanthoastrocytoma
Congenital Contractural Arachnodactyly
Splenomegaly
ASL
Argininosuccinic Aciduria
ENG
Telangiectasia, Hereditary Hemorrhagic, Type 1
FBN2
Congenital Contractural Arachnodactyly
TTPA
Familial Isolated Vitamin E Deficiency
PMM2
Pmm2 Deficiency
GLMN
Glomuvenous Malformation
GALE
Galactose Epimerase Deficiency
Splenomegaly
DNAJC19
3-Methylglutaconic Aciduria, Type V
PQBP1
Renpenning's Syndrome
TEK
Glomuvenous Malformation
Venous Malformations, Multiple Cutaneous And Mucosal
Congenital Contractural Arachnodactyly
FAM20A
Enamel-Renal Syndrome
TP53
Pilocytic Astrocytoma
Intraductal Papillary Mucinous Neoplasm
Fibrolamellar Hepatocellular Carcinoma
Pleomorphic Xanthoastrocytoma
Congenital Contractural Arachnodactyly
Splenomegaly
Langerhans Cell Histiocytosis
IFIH1
Singleton Merten Syndrome
NOTCH1
Pilocytic Astrocytoma
Congenital Contractural Arachnodactyly
Splenomegaly
Langerhans Cell Histiocytosis
NF1
Pilocytic Astrocytoma
Aneurysm
CFH
Membranoproliferative Glomerulonephritis
Enteritis
ACVRL1
Telangiectasia, Hereditary Hemorrhagic, Type 1
CTNS
Cystinosis
Splenomegaly