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Diseases
Genes (629)
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ASL
Argininosuccinic Aciduria
TTPA
Familial Isolated Vitamin E Deficiency
PMM2
Pmm2 Deficiency
F12
Factor Xii Deficiency
SLC12A6
Andermann Syndrome
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
SLC17A5
Salla Disease
FAM20A
Enamel-Renal Syndrome
UMOD
Medullary Cystic Kidney Disease
NGLY1
Ngly1 Deficiency
UBE3B
Kaufman Oculocerebrofacial Syndrome
LMNA
Limb–girdle Muscular Dystrophy
IFIH1
Singleton Merten Syndrome
GNE
Limb–girdle Muscular Dystrophy
Salla Disease
ACTG2
Berdon Syndrome
DMPK
Myotonic Dystrophy
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
TRNL1
Merrf Syndrome
SGCG
Limb–girdle Muscular Dystrophy