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Diseases
Genes (560)
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ASL
Argininosuccinic Aciduria
TTPA
Familial Isolated Vitamin E Deficiency
PMM2
Pmm2 Deficiency
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
NGLY1
Ngly1 Deficiency
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
LMNA
Limb–girdle Muscular Dystrophy
ACTG2
Berdon Syndrome
CAV3
Cholera
Limb–girdle Muscular Dystrophy
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
SGCG
Limb–girdle Muscular Dystrophy
MYOT
Limb–girdle Muscular Dystrophy
DES
Limb–girdle Muscular Dystrophy
ASS1
Argininosuccinic Aciduria
Citrullinemia Type I
MYH11
Berdon Syndrome
CTNS
Limb–girdle Muscular Dystrophy
Cystinosis
MYLK
Berdon Syndrome