Human | NHLRC1 | 378884 | NHL repeat containing 1 | |
Human | PANK2 | 80025 | pantothenate kinase 2 | |
Human | TREM2 | 54209 | triggering receptor expressed on myeloid cells 2 | |
Human | BSCL2 | 26580 | Berardinelli-Seip congenital lipodystrophy 2 (seipin) | Onset of gait abnormalities at 8 to 40 years |
Human | CHMP2B | 25978 | charged multivesicular body protein 2B | |
Human | NDRG1 | 10397 | N-myc downstream regulated 1 | |
Human | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | |
Human | EIF2B5 | 8893 | eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa | |
Human | EIF2B2 | 8892 | eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa | |
Human | EIF2B3 | 8891 | eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa | |
Human | EIF2B4 | 8890 | eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa | |
Human | PABPN1 | 8106 | poly(A) binding protein, nuclear 1 | Gait abnormalities (occurs later) |
Human | EPM2A | 7957 | epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) | |
Human | VCP | 7415 | valosin containing protein | |
Human | TYROBP | 7305 | TYRO protein tyrosine kinase binding protein | |
Human | NKX2-1 | 7080 | | Gait abnormalities may occur |
Human | PSEN1 | 5663 | presenilin 1 | |
Human | PARK2 | 5071 | parkinson protein 2, E3 ubiquitin protein ligase (parkin) | |
Human | NOTCH3 | 4854 | notch 3 | |
Human | MYH7 | 4625 | myosin, heavy chain 7, cardiac muscle, beta | |
Human | MTHFR | 4524 | methylenetetrahydrofolate reductase (NAD(P)H) | |
Human | GLB1 | 2720 | galactosidase, beta 1 | Gait disturbance (ataxia) |
Human | GCH1 | 2643 | GTP cyclohydrolase 1 | |
Human | FLNA | 2316 | filamin A, alpha | |
Human | EIF2B1 | 1967 | eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa | |