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Diseases
Genes (2028)
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ASL
Argininosuccinic Aciduria
PMM2
Pmm2 Deficiency
TTPA
Familial Isolated Vitamin E Deficiency
UROD
Porphyria Cutanea Tarda
CYP21A2
Late Onset Congenital Adrenal Hyperplasia
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
PQBP1
Renpenning's Syndrome
FAM20A
Enamel-Renal Syndrome
IFIH1
Singleton Merten Syndrome
LIPA
Acid Lipase Disease
TRNL1
Merrf Syndrome
CYP17A1
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
TRNP
Merrf Syndrome
TRNF
Merrf Syndrome
HFE
Porphyria Cutanea Tarda
Childhood Leukemia
IL1B
Merrf Syndrome
Ophthalmia
Renpenning's Syndrome
Childhood Leukemia
PRKAR1A
Enamel-Renal Syndrome
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Childhood Leukemia
ASS1
Argininosuccinic Aciduria
Citrullinemia Type I
BRCA1
Primary Peritoneal Carcinoma
Childhood Leukemia
HSD3B2
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
TRNK
Merrf Syndrome