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Diseases
Genes (622)
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TTPA
Familial Isolated Vitamin E Deficiency
UROD
Porphyria Cutanea Tarda
SLC12A6
Andermann Syndrome
CYP21A2
Late Onset Congenital Adrenal Hyperplasia
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal Insufficiency
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
SLC17A5
Salla Disease
FAM20A
Enamel-Renal Syndrome
NGLY1
Ngly1 Deficiency
UBE3B
Kaufman Oculocerebrofacial Syndrome
CYP17A1
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal Insufficiency
IFIH1
Singleton Merten Syndrome
ACTG2
Berdon Syndrome
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
TRNL1
Merrf Syndrome
HFE
Porphyria Cutanea Tarda
DMPK
Myotonic Dystrophy
TRNP
Merrf Syndrome
TRNF
Merrf Syndrome
ASS1
Citrullinemia Type I