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Diseases
Genes (892)
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ASL
Argininosuccinic Aciduria
FOXP3
Ipex Syndrome
Myasthenia, Limb-Girdle, Autoimmune
PMM2
Pmm2 Deficiency
TTPA
Familial Isolated Vitamin E Deficiency
COL6A1
Bethlem Myopathy
COL6A3
Bethlem Myopathy
Congenital Muscular Dystrophy
FMR1
Fg Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
Renpenning's Syndrome
SCN1A
Dravet Syndrome
MED12
Fg Syndrome
GNAQ
Sturge–weber Syndrome
SLC17A5
Salla Disease
PQBP1
Renpenning's Syndrome
COL6A2
Bethlem Myopathy
UMOD
Medullary Cystic Kidney Disease
RHBDF2
Howel–evans Syndrome
FLNA
Subglottic Stenosis
Fg Syndrome
Intestinal Neuronal Dysplasia
IFIH1
Singleton Merten Syndrome
Myasthenia, Limb-Girdle, Autoimmune
POMC
Myotonic Dystrophy
Dravet Syndrome
Myasthenia, Limb-Girdle, Autoimmune
DMPK
Myotonic Dystrophy
COL12A1
Bethlem Myopathy