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Diseases
Genes (894)
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TTPA
Familial Isolated Vitamin E Deficiency
SLC12A6
Andermann Syndrome
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
SLC17A5
Salla Disease
FAM20A
Enamel-Renal Syndrome
NGLY1
Ngly1 Deficiency
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
ACTG2
Berdon Syndrome
DMPK
Myotonic Dystrophy
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
ASS1
Citrullinemia Type I
CD55
Protein Losing Enteropathy
PTEN
Thrombophlebitis
Protein Losing Enteropathy
Adenoid Cystic Carcinoma
MYH11
Berdon Syndrome
TP53
Myotonic Dystrophy
Adenoid Cystic Carcinoma
MYLK
Berdon Syndrome
CTNS
Cystinosis
NOTCH1
Adenoid Cystic Carcinoma
Melorheostosis