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Diseases
Genes (757)
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BEST1
Callosity
Vitelliform Macular Dystrophy
TP53
Li–fraumeni Syndrome
Pleural Effusion
TTPA
Familial Isolated Vitamin E Deficiency
LIPA
Lysosomal Acid Lipase Deficiency
ACADVL
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
PQBP1
Renpenning's Syndrome
FAM20A
Enamel-Renal Syndrome
MED12
Fg Syndrome
SLC20A2
Primary Familial Brain Calcification
PDGFRB
Primary Familial Brain Calcification
UBE3B
Kaufman Oculocerebrofacial Syndrome
GALE
Galactose Epimerase Deficiency
CHEK2
Li–fraumeni Syndrome
IFIH1
Singleton Merten Syndrome
FLNA
Aneurysm Of Sinus Of Valsalva
Intestinal Neuronal Dysplasia
Fg Syndrome
PDGFB
Callosity
Primary Familial Brain Calcification
ASS1
Citrullinemia Type I
CTNS
Cystinosis
PRPH2
Vitelliform Macular Dystrophy
RB1
Pinealoblastoma
Trilateral Retinoblastoma
Li–fraumeni Syndrome