Human | MFSD8 | 256471 | major facilitator superfamily domain containing 8 | |
Human | TTBK2 | 146057 | tau tubulin kinase 2 | |
Human | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Cerebellar atrophy in most cases |
Human | FKRP | 79147 | fukutin related protein | |
Human | SIL1 | 64374 | SIL1 nucleotide exchange factor | Massive cerebellar cortical atrophy with vacuolated or binucleated Purkinje cells |
Human | MCOLN1 | 57192 | mucolipin 1 | Cerebellar atrophy in older patients |
Human | PDSS2 | 57107 | prenyl (decaprenyl) diphosphate synthase, subunit 2 | |
Human | ADCK3 | 56997 | aarF domain containing kinase 3 | |
Human | C10orf2 | 56652 | chromosome 10 open reading frame 2 | |
Human | APTX | 54840 | aprataxin | |
Human | COQ2 | 27235 | coenzyme Q2 4-hydroxybenzoate polyprenyltransferase | |
Human | UQCRQ | 27089 | ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa | |
Human | PLEKHG4 | 25894 | pleckstrin homology domain containing, family G (with RhoGef domain) member 4 | |
Human | ATXN10 | 25814 | ataxin 10 | Patients of Brazilian origin have a pure cerebellar atrophy |
Human | PDSS1 | 23590 | prenyl (decaprenyl) diphosphate synthase, subunit 1 | |
Human | SETX | 23064 | senataxin | study identified a novel SETX homozygous c.5308_5311delGAGA mutation that co-segregates with autosomal recessive cerebellar ataxia with cerebellar atrophy and raised alpha-fetoprotein |
Human | SLC9A6 | 10479 | solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 | |
Human | ALG3 | 10195 | ALG3, alpha-1,3- mannosyltransferase | |
Human | PLA2G6 | 8398 | phospholipase A2, group VI (cytosolic, calcium-independent) | T2-weighted MRI shows cerebellar atrophy with signal hyperintensity in the cerebellar cortex Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation |
Human | VLDLR | 7436 | very low density lipoprotein receptor | |
Human | UQCRB | 7381 | ubiquinol-cytochrome c reductase binding protein | |
Human | TBP | 6908 | TATA box binding protein | |
Human | SPTBN2 | 6712 | spectrin, beta, non-erythrocytic 2 | |
Human | SPG7 | 6687 | spastic paraplegia 7 (pure and complicated autosomal recessive) | Cerebellar signs or cerebellar atrophy on brain imaging were the most frequent additional features in patients with SPG7 hereditary spastic paraplegia |
Human | ATXN8OS | 6315 | ATXN8 opposite strand (non-protein coding) | |