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Diseases
Genes (339)
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ASL
Argininosuccinic Aciduria
TTPA
Familial Isolated Vitamin E Deficiency
PMM2
Pmm2 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
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
ASS1
Argininosuccinic Aciduria
Citrullinemia Type I
MYH11
Berdon Syndrome
MYLK
Berdon Syndrome
CTNS
Cystinosis
RB1
Pinealoblastoma
Trilateral Retinoblastoma
BRAF
Erdheim–chester Disease
LEMD3
Pmm2 Deficiency
Melorheostosis