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Diseases
Genes (2634)
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ABHD5
Cerebral Creatine Deficiency
GALT
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
GALE
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
RB1
Pinealoblastoma
Trilateral Retinoblastoma
Osteogenic Sarcoma
GAMT
Guanidinoacetate Methyltransferase Deficiency
FOXP3
Ipex Syndrome
Osteogenic Sarcoma
TP53
Alopecia, Androgenetic, 1
Osteogenic Sarcoma
TTPA
Familial Isolated Vitamin E Deficiency
SLC2A10
Arterial Tortuosity Syndrome
Aneurysm
FLNA
Multiple Epiphyseal Dysplasia
Intestinal Neuronal Dysplasia
Fg Syndrome
PQBP1
Renpenning's Syndrome
Osteogenic Sarcoma
MED12
Fg Syndrome
PRPS1
Arts Syndrome
FAM20A
Enamel-Renal Syndrome
GALK1
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
CHEK2
Osteogenic Sarcoma
UBE3B
Kaufman Oculocerebrofacial Syndrome
VEGFA
Alopecia, Androgenetic, 1
Osteogenic Sarcoma
Multiple Epiphyseal Dysplasia
Lymphangiosarcoma
COL9A1
Osteogenic Sarcoma
Multiple Epiphyseal Dysplasia
IFIH1
Singleton Merten Syndrome