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Diseases
Genes (874)
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MMACHC
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic Aciduria And Homocystinuria, Cblc Type
GM2A
Gm2-Gangliosidosis, Ab Variant
FBN2
Congenital Contractural Arachnodactyly
TTPA
Familial Isolated Vitamin E Deficiency
COL2A1
Collagen, Type Ii, Alpha-1
MMUT
Propionic Acidemia
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
PCCA
Propionic Acidemia
PCCB
Propionic Acidemia
PQBP1
Renpenning's Syndrome
MMAA
Methylmalonic Aciduria, Cbla Type
SLC20A2
Primary Familial Brain Calcification
PDGFRB
Primary Familial Brain Calcification
Congenital Contractural Arachnodactyly
PRPS1
Phosphoribosylpyrophosphate Synthetase Superactivity
GALE
Galactose Epimerase Deficiency
IFIH1
Singleton Merten Syndrome
PAH
Phenylketonuria
CFH
Membranoproliferative Glomerulonephritis
TSLP
Membranoproliferative Glomerulonephritis
PDGFB
Primary Familial Brain Calcification
CTNS
Cystinosis