Human | SCA21 | 170545 | spinocerebellar ataxia 21 | INFERRED, Score=800, UMLKSK CUI: C0007758 |
Human | SCA22 | 140575 | spinocerebellar ataxia 22 | INFERRED, Score=800, UMLKSK CUI: C0007758 |
Human | SCA19 | 140452 | spinocerebellar ataxia 19 | maps to chromosome 1p21-q21 and identification in Dutch autosomal dominant cerebellar ataxia family |
Human | DNAJC19 | 131118 | DnaJ (Hsp40) homolog, subfamily C, member 19 | Cerebellar ataxia, nonprogressive |
Human | SCA18 | 94008 | spinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy) | INFERRED, Score=800, UMLKSK CUI: C0007758 |
Human | ATCAY | 85300 | ataxia, cerebellar, Cayman type | |
Human | SIL1 | 64374 | SIL1 nucleotide exchange factor | |
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 | INFERRED, Score=800, UMLKSK CUI: C0007758 |
Human | TDP1 | 55775 | tyrosyl-DNA phosphodiesterase 1 | INFERRED, Score=800, UMLKSK CUI: C0007758 |
Human | NLRP2 | 55655 | NLR family, pyrin domain containing 2 | INFERRED, Score=800, UMLKSK CUI: C0007758 |
Human | SLC39A4 | 55630 | solute carrier family 39 (zinc transporter), member 4 | |
Human | APTX | 54840 | aprataxin | Cerebellar ataxia, severe |
Human | COQ2 | 27235 | coenzyme Q2 4-hydroxybenzoate polyprenyltransferase | |
Human | PLEKHG4 | 25894 | pleckstrin homology domain containing, family G (with RhoGef domain) member 4 | Disease locus of 16q-autosomal dominant cerebellar ataxia was definitely confined to a 900-kb genomic region between the SNP04 and the -16C>T substitution in the puratrophin-1 gene in 16q22.1 the autosomal dominant cerebellar ataxia that we have characterized is allelic with SCA4 and Japanese 16q-linked ADCA type III Cerebellar ataxia, slowly progressive Mutations of the puratrophin1 gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population Cerebellar ataxia, progressive |
Human | ATXN10 | 25814 | ataxin 10 | Cerebellar ataxia, progressive |
Human | PDSS1 | 23590 | prenyl (decaprenyl) diphosphate synthase, subunit 1 | |
Human | SYNE1 | 23345 | spectrin repeat containing, nuclear envelope 1 | SYNE1 is the first identified gene responsible for a recessively inherited pure cerebellar ataxia |
Human | SETX | 23064 | senataxin | Mother and daughter who display symptoms of cerebellar ataxia/atrophy, oculomotor defects, and tremor with mutations in syntaxin 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 | RPIA | 22934 | ribose 5-phosphate isomerase A | |
Human | NPC2 | 10577 | Niemann-Pick disease, type C2 | |
Human | PLA2G6 | 8398 | phospholipase A2, group VI (cytosolic, calcium-independent) | |
Human | ZNF148 | 7707 | zinc finger protein 148 | INFERRED, Score=800, UMLKSK CUI: C0007758 |
Human | VLDLR | 7436 | very low density lipoprotein receptor | Associated with cerebellar ataxia, which can lead to quadrupedal locomotion |