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Diseases
Genes (2013)
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GALE
Splenomegaly
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
ATRX
Splenomegaly
Inguinal Hernia
Alpha-Thalassemia Mental Retardation Syndrome
GALT
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
TTPA
Familial Isolated Vitamin E Deficiency
F12
Factor Xii Deficiency
CPT1A
Carnitine Palmitoyltransferase I Deficiency
IGF1
Insulin-Like Growth Factor I Deficiency
Galactose-1-Phosphate Uridylyltransferase Deficiency
Necrotizing Enterocolitis
PQBP1
Renpenning's Syndrome
TLR4
Splenomegaly
Down Syndrome
Necrotizing Enterocolitis
Acute Monocytic Leukemia
GALK1
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
IFIH1
Singleton Merten Syndrome
TRNL1
Merrf Syndrome
IL10
Splenomegaly
Inguinal Hernia
Cystinosis
Down Syndrome
Chronic Bacterial Prostatitis
Necrotizing Enterocolitis
TRNP
Merrf Syndrome
TRNF
Merrf Syndrome
CTNS
Splenomegaly
Cystinosis
IL1B
Merrf Syndrome
Cystinosis
Down Syndrome
Necrotizing Enterocolitis
Renpenning's Syndrome
WDR45
Neurodegeneration With Brain Iron Accumulation
IL6
Familial Isolated Vitamin E Deficiency
Splenomegaly
Inguinal Hernia
Down Syndrome
Aseptic Meningitis
Necrotizing Enterocolitis
Acute Monocytic Leukemia
GATA1
Splenomegaly
Melorheostosis
Down Syndrome
Acute Monocytic Leukemia