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Diseases
Genes (1032)
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TTPA
Familial Isolated Vitamin E Deficiency
Nyctalopia
MMACHC
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic Aciduria And Homocystinuria, Cblc Type
FBN2
Congenital Contractural Arachnodactyly
GM2A
Gm2-Gangliosidosis, Ab Variant
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
FAM20A
Enamel-Renal Syndrome
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
CFH
Membranoproliferative Glomerulonephritis
TSLP
Membranoproliferative Glomerulonephritis
PDGFB
Primary Familial Brain Calcification
CTNS
Cystinosis
SLC4A4
Proximal Renal Tubular Acidosis