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Diseases
Genes (920)
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ASL
Argininosuccinic Aciduria
MYO5B
Microvillus Inclusion Disease
FBN2
Congenital Contractural Arachnodactyly
TTPA
Familial Isolated Vitamin E Deficiency
PMM2
Pmm2 Deficiency
BRAF
Langerhans Cell Histiocytosis
Congenital Contractural Arachnodactyly
ALS2
Infantile-Onset Ascending Hereditary Spastic Paralysis
GALE
Galactose Epimerase Deficiency
IFIH1
Hepatitis E
Singleton Merten Syndrome
MC2R
Familial Glucocorticoid Deficiency
CFH
Membranoproliferative Glomerulonephritis
STX3
Microvillus Inclusion Disease
TSLP
Membranoproliferative Glomerulonephritis
Lumbar Disc Disease
CTNS
Cystinosis
SLC4A4
Proximal Renal Tubular Acidosis
DNAJB1
Fibrolamellar Hepatocellular Carcinoma
Congenital Contractural Arachnodactyly
RB1
Pinealoblastoma
Trilateral Retinoblastoma
MRAP
Familial Glucocorticoid Deficiency
PRKACA
Fibrolamellar Hepatocellular Carcinoma
SOST
Craniodiaphyseal Dysplasia
Langerhans Cell Histiocytosis