Human | D2HGDH | 728294 | D-2-hydroxyglutarate dehydrogenase | |
Human | BRWD3 | 254065 | bromodomain and WD repeat domain containing 3 | |
Human | NDUFAF2 | 91942 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 | Macrocephaly, progressive |
Human | ZNF469 | 84627 | zinc finger protein 469 | |
Human | C20orf7 | 79133 | | Macrocephaly, progressive |
Human | UPF3B | 65109 | UPF3 regulator of nonsense transcripts homolog B (yeast) | |
Human | NSD1 | 64324 | nuclear receptor binding SET domain protein 1 | |
Human | PEX26 | 55670 | peroxisomal biogenesis factor 26 | |
Human | NDUFAF4 | 29078 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 | Macrocephaly, progressive |
Human | OSTM1 | 28962 | osteopetrosis associated transmembrane protein 1 | |
Human | MLC1 | 23209 | megalencephalic leukoencephalopathy with subcortical cysts 1 | |
Human | B4GALT7 | 11285 | xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 | |
Human | TCIRG1 | 10312 | T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 | |
Human | EIF2B5 | 8893 | eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa | Macrocephaly may develop in those who survive past age 2 years |
Human | EIF2B2 | 8892 | eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa | Macrocephaly may develop in those who survive past age 2 years |
Human | EIF2B3 | 8891 | eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa | Macrocephaly may develop in those who survive past age 2 years |
Human | EIF2B4 | 8890 | eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa | Macrocephaly may develop in those who survive past age 2 years |
Human | PEX3 | 8504 | peroxisomal biogenesis factor 3 | |
Human | OFD1 | 8481 | oral-facial-digital syndrome 1 | |
Human | SYN1 | 6853 | synapsin I | |
Human | SOX9 | 6662 | SRY (sex determining region Y)-box 9 | |
Human | PEX5 | 5830 | peroxisomal biogenesis factor 5 | |
Human | PEX19 | 5824 | peroxisomal biogenesis factor 19 | |
Human | PTEN | 5728 | phosphatase and tensin homolog | |
Human | MAP2K2 | 5605 | mitogen-activated protein kinase kinase 2 | |