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Diseases
Genes (453)
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ASL
Argininosuccinic Aciduria
PMM2
Pmm2 Deficiency
Cutis Laxa
COL6A1
Bethlem Myopathy
COL6A3
Bethlem Myopathy
Congenital Muscular Dystrophy
TTPA
Familial Isolated Vitamin E Deficiency
COL6A2
Bethlem Myopathy
PQBP1
Renpenning's Syndrome
UMOD
Medullary Cystic Kidney Disease
TAF1
Dystonia 3, Torsion, X-Linked
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
RHBDF2
Howel–evans Syndrome
UBE3B
Kaufman Oculocerebrofacial Syndrome
GALE
Galactose Epimerase Deficiency
FBLN5
Cutis Laxa
ELN
Cutis Laxa
IFIH1
Singleton Merten Syndrome
PYCR1
Cutis Laxa
EFEMP2
Cutis Laxa
ACTG2
Berdon Syndrome