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Diseases
Genes (984)
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ABHD5
Cerebral Creatine Deficiency
GAMT
Guanidinoacetate Methyltransferase Deficiency
FBN2
Congenital Contractural Arachnodactyly
TTPA
Familial Isolated Vitamin E Deficiency
PQBP1
Renpenning's Syndrome
TMC6
Epidermodysplasia Verruciformis
FAM20A
Enamel-Renal Syndrome
IDH1
Congenital Contractural Arachnodactyly
Ollier Disease
GALE
Galactose Epimerase Deficiency
IFIH1
Singleton Merten Syndrome
IDH2
Congenital Contractural Arachnodactyly
Ollier Disease
AGGF1
Klippel-Trenaunay-Weber Syndrome
CFH
Membranoproliferative Glomerulonephritis
TMC8
Epidermodysplasia Verruciformis
ASS1
Congenital Contractural Arachnodactyly
Citrullinemia Type I
CTNS
Cystinosis
TSLP
Membranoproliferative Glomerulonephritis
SLC4A4
Proximal Renal Tubular Acidosis
PRKAR1A
Alopecia, Androgenetic, 1
Fibrolamellar Hepatocellular Carcinoma
Congenital Contractural Arachnodactyly
Enamel-Renal Syndrome
SRD5A2
Alopecia, Androgenetic, 1