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Diseases
Genes (762)
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ASL
Argininosuccinic Aciduria
TTPA
Familial Isolated Vitamin E Deficiency
POLG
Balo Concentric Sclerosis
Merrf Syndrome
PMM2
Pmm2 Deficiency
SLC12A6
Andermann Syndrome
NGLY1
Corneal Neovascularization
Ngly1 Deficiency
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
SLC17A5
Salla Disease
FAM20A
Enamel-Renal Syndrome
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
LMNA
Limb–girdle Muscular Dystrophy
ACTG2
Berdon Syndrome
GNE
Salla Disease
Limb–girdle Muscular Dystrophy
DMPK
Myotonic Dystrophy
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
TRNL1
Merrf Syndrome
SGCG
Limb–girdle Muscular Dystrophy
MYOT
Limb–girdle Muscular Dystrophy