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Diseases
Genes (624)
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TTPA
Familial Isolated Vitamin E Deficiency
LIPA
Lysosomal Acid Lipase Deficiency
TP53
Li–fraumeni Syndrome
Pleural Effusion
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
AGGF1
Klippel-Trenaunay-Weber Syndrome
PDGFB
Primary Familial Brain Calcification
ASS1
Citrullinemia Type I
CTNS
Cystinosis
RB1
Pinealoblastoma
Trilateral Retinoblastoma
Li–fraumeni Syndrome
PRPH2
Vitelliform Macular Dystrophy
MDM2
Li–fraumeni Syndrome
CDKN2A
Maladjustment
Li–fraumeni Syndrome
Pleural Effusion