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Diseases
Genes (745)
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ASL
Argininosuccinic Aciduria
TTPA
Familial Isolated Vitamin E Deficiency
PMM2
Pmm2 Deficiency
SLC12A6
Andermann Syndrome
SLC17A5
Salla Disease
MED12
Fg Syndrome
GNAQ
Erdheim–chester Disease
Sturge–weber Syndrome
ABCC9
Cantú Syndrome
PQBP1
Renpenning's Syndrome
UMOD
Medullary Cystic Kidney Disease
FAM20A
Enamel-Renal Syndrome
UBE3B
Kaufman Oculocerebrofacial Syndrome
UBA1
X-Linked Spinal Muscular Atrophy Type 2
KCNJ8
Cantú Syndrome
Enamel-Renal Syndrome
IFIH1
Singleton Merten Syndrome
ACTG2
Berdon Syndrome
Bronchopulmonary Dysplasia
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
Bronchopulmonary Dysplasia
RASA1
Sturge–weber Syndrome
ASS1
Argininosuccinic Aciduria
Citrullinemia Type I
MYH11
Berdon Syndrome