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Diseases
Genes (893)
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ASL
Argininosuccinic Aciduria
PMM2
Pmm2 Deficiency
FBN2
Congenital Contractural Arachnodactyly
TTPA
Familial Isolated Vitamin E Deficiency
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
GALE
Galactose Epimerase Deficiency
IFIH1
Singleton Merten Syndrome
CFH
Membranoproliferative Glomerulonephritis
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
ASS1
Argininosuccinic Aciduria
Congenital Contractural Arachnodactyly
Citrullinemia Type I
TSLP
Membranoproliferative Glomerulonephritis
CTNS
Cystinosis
SLC4A4
Proximal Renal Tubular Acidosis
TGFBR2
Membranoproliferative Glomerulonephritis
Congenital Contractural Arachnodactyly
Uterine Rupture
Aneurysm
DNAJB1
Fibrolamellar Hepatocellular Carcinoma
Congenital Contractural Arachnodactyly
RB1
Pinealoblastoma
Trilateral Retinoblastoma
PRKACA
Fibrolamellar Hepatocellular Carcinoma
FBN1
Congenital Contractural Arachnodactyly
Proximal Renal Tubular Acidosis
Aneurysm