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Diseases
Genes (867)
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SLC6A19
Hartnup Disease
PMM2
Pmm2 Deficiency
ASL
Argininosuccinic Aciduria
POLG
Balo Concentric Sclerosis
TTPA
Familial Isolated Vitamin E Deficiency
OPA3
Costeff Syndrome
SLC17A5
Salla Disease
ABCC9
Cantú Syndrome
PQBP1
Renpenning's Syndrome
UMOD
Medullary Cystic Kidney Disease
TAF1
Dystonia 3, Torsion, X-Linked
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
UBE3B
Kaufman Oculocerebrofacial Syndrome
KCNJ8
Cantú Syndrome
Enamel-Renal Syndrome
IFIH1
Singleton Merten Syndrome
FLNA
Intestinal Neuronal Dysplasia
Bronchopulmonary Dysplasia
Fg Syndrome
ACTG2
Bronchopulmonary Dysplasia
Berdon Syndrome
ASS1
Argininosuccinic Aciduria
Citrullinemia Type I
IL1B
Bronchopulmonary Dysplasia
Systemic Inflammatory Response Syndrome
Renpenning's Syndrome
Cystinosis