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Diseases
Genes (484)
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TTPA
Familial Isolated Vitamin E Deficiency
LIPA
Lysosomal Acid Lipase Deficiency
TP53
Li–fraumeni Syndrome
BEST1
Vitelliform Macular Dystrophy
ACADVL
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
PQBP1
Renpenning's Syndrome
FAM20A
Enamel-Renal Syndrome
SLC20A2
Primary Familial Brain Calcification
PDGFRB
Primary Familial Brain Calcification
GALE
Galactose Epimerase Deficiency
IFIH1
Singleton Merten Syndrome
CHEK2
Li–fraumeni Syndrome
TPP1
Ceroid Lipofuscinosis, Neuronal, 10
CLN6
Ceroid Lipofuscinosis, Neuronal, 10
CLN3
Ceroid Lipofuscinosis, Neuronal, 10
AGGF1
Klippel-Trenaunay-Weber Syndrome
PDGFB
Primary Familial Brain Calcification
ASS1
Citrullinemia Type I
CTNS
Cystinosis
PRPH2
Vitelliform Macular Dystrophy