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Diseases
Genes (467)
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ASL
Argininosuccinic Aciduria
ATP7B
Wilson's Disease
ATRX
Alpha-Thalassemia Mental Retardation Syndrome
PMM2
Pmm2 Deficiency
MED12
Fg Syndrome
Alpha-Thalassemia Mental Retardation Syndrome
MFSD8
Macular Dystrophy With Central Cone Involvement
UBA1
X-Linked Spinal Muscular Atrophy Type 2
OPN1LW
Colorblindness, Partial, Protan Series
Color Blindness
OPN1MW
Colorblindness, Partial, Deutan Series
BLVRA
Hyperbiliverdinemia
OFD1
Orofaciodigital Syndrome 1
ANXA5
Wilson's Disease
TMEM107
Orofaciodigital Syndrome 1
BRAF
Erdheim–chester Disease
Wilson's Disease
PRKACA
Fibrolamellar Hepatocellular Carcinoma
DNAJB1
Fibrolamellar Hepatocellular Carcinoma
CP
Wilson's Disease
APOE
Wilson's Disease
Colorblindness, Partial, Deutan Series
TNF
Wilson's Disease
Colorblindness, Partial, Deutan Series
CASK
Fg Syndrome