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Diseases
Genes (596)
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TTPA
Familial Isolated Vitamin E Deficiency
Nyctalopia
GM2A
Gm2-Gangliosidosis, Ab Variant
PCCA
Propionic Acidemia
PCCB
Propionic Acidemia
PQBP1
Renpenning's Syndrome
SLC20A2
Cyclopia
Primary Familial Brain Calcification
FAM20A
Enamel-Renal Syndrome
HOGA1
Primary Hyperoxaluria Type 3
PDGFRB
Primary Familial Brain Calcification
MMAA
Methylmalonic Aciduria, Cbla Type
PRPS1
Phosphoribosylpyrophosphate Synthetase Superactivity
IFIH1
Singleton Merten Syndrome
ASS1
Citrullinemia Type I
PDGFB
Primary Familial Brain Calcification
SHH
Cyclopia
RB1
Pinealoblastoma
Trilateral Retinoblastoma
NRL
Nyctalopia
FUT2
Norovirus Infection
NYX
Nyctalopia
DDX58
Singleton Merten Syndrome