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Diseases
Genes (704)
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ASL
Argininosuccinic Aciduria
TTPA
Familial Isolated Vitamin E Deficiency
PMM2
Pmm2 Deficiency
MED12
Social (Pragmatic) Communication Disorder
Fg Syndrome
SLC12A6
Andermann Syndrome
PQBP1
Renpenning's Syndrome
SLC17A5
Salla Disease
FAM20A
Enamel-Renal Syndrome
NGLY1
Ngly1 Deficiency
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Hepatitis E
Singleton Merten Syndrome
LMNA
Limb–girdle Muscular Dystrophy
ACTG2
Berdon Syndrome
GNE
Limb–girdle Muscular Dystrophy
Salla Disease
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
DMPK
Myotonic Dystrophy
SGCG
Limb–girdle Muscular Dystrophy
MYOT
Limb–girdle Muscular Dystrophy
DES
Limb–girdle Muscular Dystrophy
CAV3
Limb–girdle Muscular Dystrophy