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Diseases
Genes (176)
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GM2A
Gm2-Gangliosidosis, Ab Variant
TTPA
Familial Isolated Vitamin E Deficiency
SLC4A1
Southeast Asian Ovalocytosis
PCCA
Propionic Acidemia
PCCB
Propionic Acidemia
PQBP1
Renpenning's Syndrome
SLC20A2
Primary Familial Brain Calcification
PDGFRB
Primary Familial Brain Calcification
MMAA
Methylmalonic Aciduria, Cbla Type
PRPS1
Phosphoribosylpyrophosphate Synthetase Superactivity
IFIH1
Singleton Merten Syndrome
SRD5A2
5α-Reductase Deficiency
PRNP
Kuru, Susceptibility To
PDGFB
Primary Familial Brain Calcification
RB1
Pinealoblastoma
Trilateral Retinoblastoma
DDX58
Singleton Merten Syndrome
SLC11A1
Buruli Ulcer
XPR1
Primary Familial Brain Calcification
MYORG
Primary Familial Brain Calcification
SLC22A5
Propionic Acidemia