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Diseases
Genes (767)
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ASL
Argininosuccinic Aciduria
TTPA
Familial Isolated Vitamin E Deficiency
FGFR3
Achondroplasia
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
Respiratory Syncytial Virus (Rsv)
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
DDX58
Singleton Merten Syndrome
Respiratory Syncytial Virus (Rsv)