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Diseases
Genes (516)
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MYO15A
Deafness, Autosomal Recessive 3
TTPA
Familial Isolated Vitamin E Deficiency
AGL
Glycogen Storage Disease Type Iii
PIK3CD
Activated Pi3k Delta Syndrome
PQBP1
Renpenning's Syndrome
PHKG2
Glycogen Storage Disease Type Ix
Phosphorylase Kinase Deficiency
Glycogen Storage Disease Ixc
FAM20A
Enamel-Renal Syndrome
SLC20A2
Primary Familial Brain Calcification
PDGFRB
Primary Familial Brain Calcification
FBLN5
Cutis Laxa
ELN
Cutis Laxa
IFIH1
Singleton Merten Syndrome
PYCR1
Cutis Laxa
EFEMP2
Cutis Laxa
LTBP4
Cutis Laxa
ASS1
Citrullinemia Type I
GRIN2A
Rolandic Epilepsy
PDGFB
Primary Familial Brain Calcification
PHKA2
Glycogen Storage Disease Type Ix
Phosphorylase Kinase Deficiency
Glycogen Storage Disease Ixc
RB1
Pinealoblastoma
Trilateral Retinoblastoma