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Diseases
Genes (740)
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TP53
Pseudomyxoma Peritonei
Li–fraumeni Syndrome
Pleural Effusion
TTPA
Familial Isolated Vitamin E Deficiency
LIPA
Lysosomal Acid Lipase Deficiency
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
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
ITGB3
Optic Neuritis
Coronary Thrombosis