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Diseases
Genes (646)
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TTPA
Familial Isolated Vitamin E Deficiency
TP53
Li–fraumeni Syndrome
Pleural Effusion
LIPA
Lysosomal Acid Lipase Deficiency
BEST1
Vitelliform Macular Dystrophy
ACADVL
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
GJA1
Oculodentodigital Dysplasia
PQBP1
Renpenning's Syndrome
FAM20A
Enamel-Renal Syndrome
SLC20A2
Primary Familial Brain Calcification
PDGFRB
Primary Familial Brain Calcification
MED12
Fg Syndrome
UBE3B
Kaufman Oculocerebrofacial Syndrome
GALE
Galactose Epimerase Deficiency
IFIH1
Singleton Merten Syndrome
CHEK2
Li–fraumeni Syndrome
FLNA
Aneurysm Of Sinus Of Valsalva
Intestinal Neuronal Dysplasia
Fg Syndrome
PDGFB
Primary Familial Brain Calcification
ASS1
Citrullinemia Type I
CTNS
Cystinosis
RB1
Pinealoblastoma
Trilateral Retinoblastoma
Li–fraumeni Syndrome