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Diseases
Genes (183)
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TTPA
Familial Isolated Vitamin E Deficiency
PQBP1
Renpenning's Syndrome
IFIH1
Singleton Merten Syndrome
CD55
Protein Losing Enteropathy
RB1
Pinealoblastoma
Trilateral Retinoblastoma
CST3
Cerebral Amyloid Angiopathy
KDM3B
Metal Toxicity
DDX58
Singleton Merten Syndrome
CYP21A2
Late Onset Congenital Adrenal Hyperplasia
FH
Fumarase Deficiency
APOB
Familial Isolated Vitamin E Deficiency
APOA1
Familial Isolated Vitamin E Deficiency
STAR
Adrenal Crisis
Congenital Adrenal Hyperplasia
CYP11B2
Congenital Adrenal Hyperplasia
PTEN
Thrombophlebitis
Protein Losing Enteropathy
ITM2B
Cerebral Amyloid Angiopathy
NDP
Vascular Tumor
Uterine Rupture
DICER1
Pinealoblastoma
PLVAP
Protein Losing Enteropathy
DGAT1
Protein Losing Enteropathy