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Diseases
Genes (120)
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COL2A1
Collagen, Type Ii, Alpha-1
SLC20A2
Primary Familial Brain Calcification
PDGFRB
Primary Familial Brain Calcification
IFIH1
Singleton Merten Syndrome
PAH
Phenylketonuria
PDGFB
Primary Familial Brain Calcification
RB1
Pinealoblastoma
Trilateral Retinoblastoma
CNNM2
Tetany
DDX58
Singleton Merten Syndrome
XPR1
Primary Familial Brain Calcification
MYORG
Primary Familial Brain Calcification
AKAP5
Tetany
PRSS56
Cystic Eyeball
CAT
Actinomycosis
Phenylketonuria
G6PD
Phenylketonuria
NEFH
Phenylketonuria
PSPH
Phenylketonuria
HNF1A
Phenylketonuria
DICER1
Pinealoblastoma
PTH
Tetany
Primary Familial Brain Calcification