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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:cerebellar ataxia
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Accession:DOID:0050753 term browser browse the term
Definition:A hereditary ataxia that is characterized by ataxia originating in the cerebellum. (DO)
Synonyms:exact_synonym: Adiadochokinesis;   Cerebellar Dysmetria;   Cerebellar Dysmetrias;   Cerebellar Hemiataxia;   Cerebellar Hemiataxias;   Cerebellar Incoordination;   Cerebellar Incoordinations;   Dysmetria;   Dysmetrias;   adiadochokineses;   cerebellar ataxias;   hypermetria;   hypermetrias
 narrow_synonym: Ataxia, cerebellar, juvenile to adolescent, RAB24-related;   Ataxia, cerebellar, neonatal;   Ataxia, cerebellar, neonatal, GRM1-related;   Ataxia, cerebellar, progressive early-onset;   Ataxia, cerebellar, progressive early-onset, SEL1L-related;   cerebellar ataxia, juvenile to adolescent;   neurodegenerative vacuolar storage disease
 primary_id: MESH:D002524
 alt_id: OMIA:000078;   OMIA:001692;   OMIA:001913;   OMIA:001954;   OMIA:002110


show annotations for term's descendants           Sort by:
cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930550C14Rik RIKEN cDNA 4930550C14 gene ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9887333 PMID:23807571 PMID:25614872 PMID:25741868 PMID:28492532 More... NCBI chr 9:53,313,814...53,345,726
Ensembl chr 9:53,313,625...53,345,702 		JBrowse link
G Ahnak2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Dysmetria ClinVar NCBI chr12:112,738,631...112,766,278
Ensembl chr12:112,738,628...112,766,277 		JBrowse link
G Atcay ataxia, cerebellar, Cayman type susceptibility ISO RGD PMID:14556008 RGD:1599348 NCBI chr10:81,040,338...81,067,037
Ensembl chr10:81,040,342...81,066,667 		JBrowse link
G Atg4d autophagy related 4D, cysteine peptidase ISO Neurodegenerative vacuolar storage disease OMIA PMID:25875846 PMID:28583040 PMID:33016245 PMID:37341581 NCBI chr 9:21,176,496...21,186,133
Ensembl chr 9:21,176,589...21,189,068 		JBrowse link
G Atm ataxia telangiectasia mutated ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9887333 PMID:12810666 PMID:23807571 PMID:25614872 PMID:25741868 More... NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G Atp1b2 ATPase, Na+/K+ transporting, beta 2 polypeptide ISO Ataxia, cerebellar, ATP1B2-related OMIA PMID:28620085 PMID:37341581 NCBI chr11:69,490,554...69,496,786
Ensembl chr11:69,490,562...69,496,768 		JBrowse link
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit IAGP
ISO		 ClinVar Annotator: match by term: Cerebellar ataxia MouseDO
ClinVar		 PMID:10371528 PMID:15173248 PMID:19486177 PMID:25735478 PMID:25741868 More... NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875 		JBrowse link
G Cacna1g calcium channel, voltage-dependent, T type, alpha 1G subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr11:94,299,217...94,365,226
Ensembl chr11:94,299,217...94,365,024 		JBrowse link
G Caprin1 cell cycle associated protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:36136249 NCBI chr 2:103,593,292...103,627,946
Ensembl chr 2:103,593,286...103,627,994 		JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:32581362 NCBI chr 4:154,059,649...154,093,189
Ensembl chr 4:154,059,651...154,093,189 		JBrowse link
G Cers1 ceramide synthase 1 treatment IDA RGD PMID:21625621 RGD:156431058 NCBI chr 8:70,768,425...70,784,238
Ensembl chr 8:70,768,425...70,784,242 		JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:28554332 PMID:34386584 NCBI chr 2:32,252,724...32,268,311
Ensembl chr 2:32,242,339...32,270,982 		JBrowse link
G Clcn2 chloride channel, voltage-sensitive 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr16:20,521,185...20,536,496
Ensembl chr16:20,521,714...20,536,496 		JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:25741868 NCBI chr 1:179,992,803...180,023,585
Ensembl chr 1:179,992,803...180,027,167 		JBrowse link
G Csmd1 CUB and Sushi multiple domains 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:35351988 NCBI chr 8:15,942,538...17,586,908
Ensembl chr 8:15,942,537...17,585,602 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Dysmetria ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chr 1:160,868,171...160,898,236
Ensembl chr 1:160,868,171...160,898,228 		JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:28554332 PMID:34386584 NCBI chr 2:32,198,483...32,243,361
Ensembl chr 2:32,198,483...32,243,350 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr12:110,567,829...110,633,378
Ensembl chr12:110,567,886...110,633,379 		JBrowse link
G Esr1 estrogen receptor 1 (alpha) ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614 		JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9361298 PMID:9818870 PMID:11438991 PMID:11571214 PMID:15468313 More... NCBI chr  X:100,419,982...100,429,235
Ensembl chr  X:100,419,984...100,429,235 		JBrowse link
G Grm1 glutamate receptor, metabotropic 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:36675067 NCBI chr10:10,561,803...10,958,126
Ensembl chr10:10,561,803...10,958,100 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr18:36,899,581...36,916,258
Ensembl chr18:36,899,581...36,916,258 		JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 6:108,190,044...108,528,077
Ensembl chr 6:108,190,057...108,528,070 		JBrowse link
G Kcna6 potassium voltage-gated channel, shaker-related, subfamily, member 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 6:126,685,292...126,717,610
Ensembl chr 6:126,685,292...126,717,637 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:19289823 PMID:19420365 PMID:20651251 PMID:20807765 PMID:32581362 NCBI chr 1:172,168,777...172,201,652
Ensembl chr 1:172,168,777...172,201,652 		JBrowse link
G Kcnn2 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:33242881 PMID:36746441 NCBI chr18:45,401,754...45,818,954
Ensembl chr18:45,401,927...45,818,950 		JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:32581362 NCBI chr11:70,591,170...70,622,796
Ensembl chr11:70,591,374...70,622,790 		JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:29286531 NCBI chr 7:79,347,846...79,365,520
Ensembl chr 7:79,347,846...79,365,468 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr  X:72,897,384...72,924,843
Ensembl chr  X:72,897,384...72,939,711 		JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr12:69,737,210...69,771,648
Ensembl chr12:69,737,207...69,771,647 		JBrowse link
G Lrch2 leucine-rich repeats and calponin homology (CH) domain containing 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:35351988 NCBI chr  X:146,253,376...146,337,198
Ensembl chr  X:146,253,371...146,337,077 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:15064763 PMID:16043786 PMID:16835246 PMID:17296794 PMID:17959936 More... NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161 		JBrowse link
G Mlc1 megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human) ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:16652334 PMID:21160490 PMID:23079554 PMID:23851226 PMID:25741868 More... NCBI chr15:88,840,087...88,863,192
Ensembl chr15:88,840,087...88,863,210 		JBrowse link
G mt-Atp6 ATP synthase 6, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607 		JBrowse link
G mt-Atp8 ATP synthase 8, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,766...7,969
Ensembl chr MT:7,766...7,969 		JBrowse link
G mt-Co1 cytochrome c oxidase I, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,328...6,872
Ensembl chr MT:5,328...6,872 		JBrowse link
G mt-Co2 cytochrome c oxidase II, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,013...7,696
Ensembl chr MT:7,013...7,696 		JBrowse link
G mt-Co3 cytochrome c oxidase III, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,607...9,390
Ensembl chr MT:8,607...9,390 		JBrowse link
G mt-Nd1 NADH dehydrogenase 1, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707 		JBrowse link
G mt-Nd2 NADH dehydrogenase 2, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,914...4,951
Ensembl chr MT:3,914...4,951 		JBrowse link
G mt-Nd3 NADH dehydrogenase 3, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,459...9,806
Ensembl chr MT:9,459...9,806 		JBrowse link
G mt-Nd4 NADH dehydrogenase 4, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,167...11,544
Ensembl chr MT:10,167...11,544 		JBrowse link
G mt-Nd4l NADH dehydrogenase 4L, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,877...10,173
Ensembl chr MT:9,877...10,173 		JBrowse link
G mt-Nd5 NADH dehydrogenase 5, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,742...13,565
Ensembl chr MT:11,742...13,565 		JBrowse link
G mt-Ta tRNA alanine, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,018...5,086
Ensembl chr MT:5,018...5,086 		JBrowse link
G mt-Tc tRNA cysteine, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,192...5,257
Ensembl chr MT:5,192...5,257 		JBrowse link
G mt-Td tRNA aspartic acid, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:6,942...7,011
Ensembl chr MT:6,942...7,011 		JBrowse link
G mt-Te tRNA glutamic acid, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr MT:14,071...14,139
Ensembl chr MT:14,071...14,139 		JBrowse link
G mt-Tg tRNA glycine, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,391...9,458
Ensembl chr MT:9,391...9,458 		JBrowse link
G mt-Th tRNA histidine, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,546...11,612
Ensembl chr MT:11,546...11,612 		JBrowse link
G mt-Ti tRNA isoleucine, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,706...3,774
Ensembl chr MT:3,706...3,774 		JBrowse link
G mt-Tk tRNA lysine, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,700...7,764
Ensembl chr MT:7,700...7,764 		JBrowse link
G mt-Tm tRNA methionine, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,845...3,913
Ensembl chr MT:3,845...3,913 		JBrowse link
G mt-Tn tRNA asparagine, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,089...5,159
Ensembl chr MT:5,089...5,159 		JBrowse link
G mt-Tq tRNA glutamine, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,772...3,842
Ensembl chr MT:3,772...3,842 		JBrowse link
G mt-Tr tRNA arginine, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,808...9,875
Ensembl chr MT:9,808...9,875 		JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938 		JBrowse link
G mt-Ts2 tRNA serine 2, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,613...11,671
Ensembl chr MT:11,613...11,671 		JBrowse link
G mt-Tw tRNA tryptophan, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:4,950...5,016
Ensembl chr MT:4,950...5,016 		JBrowse link
G mt-Ty tRNA tyrosine, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,260...5,326
Ensembl chr MT:5,260...5,326 		JBrowse link
G Mtcl1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:30548255 NCBI chr17:66,643,975...66,760,672
Ensembl chr17:66,643,977...66,756,745 		JBrowse link
G Ncdn neurochondrin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:33711248 NCBI chr 4:126,637,548...126,647,203
Ensembl chr 4:126,637,543...126,647,231 		JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 2:130,112,904...130,121,233
Ensembl chr 2:130,116,350...130,121,233 		JBrowse link
G Pde1b phosphodiesterase 1B, Ca2+-calmodulin dependent ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr15:103,411,461...103,438,483
Ensembl chr15:103,411,461...103,438,479 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598 NCBI chr17:47,022,402...47,036,469
Ensembl chr17:47,022,389...47,036,467 		JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chr16:8,455,467...8,475,472
Ensembl chr16:8,455,538...8,480,331 		JBrowse link
G Pmpca peptidase (mitochondrial processing) alpha ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 2:26,275,554...26,287,134
Ensembl chr 2:26,279,351...26,287,134 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25033069 PMID:25359264 PMID:25741868 PMID:28492532 PMID:34234304 More... NCBI chr 8:3,565,341...3,594,267
Ensembl chr 8:3,565,384...3,594,267 		JBrowse link
G Polg polymerase (DNA directed), gamma ISO associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations:cds: RGD PMID:20803511 RGD:8694192 NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28182637 PMID:28492532 NCBI chr 2:32,126,321...32,145,017
Ensembl chr 2:32,126,602...32,145,017 		JBrowse link
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 7:3,352,038...3,379,615
Ensembl chr 7:3,337,704...3,379,615 		JBrowse link
G Ptrh2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:25741868 PMID:27129381 PMID:28328138 NCBI chr11:86,574,900...86,583,283
Ensembl chr11:86,574,811...86,583,283 		JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO Ataxia, cerebellar, juvenile to adolescent, RAB24-related OMIA PMID:3973637 PMID:6502189 PMID:7341602 PMID:7440348 PMID:11043686 More... NCBI chr13:55,467,036...55,469,807
Ensembl chr13:55,467,556...55,469,759 		JBrowse link
G Rfc1 replication factor C (activator 1) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926972 NCBI chr 5:65,419,195...65,492,988
Ensembl chr 5:65,419,193...65,493,013 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Joubert Syndrome 7;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890 		JBrowse link
G Rpl27a ribosomal protein L27A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21674502 NCBI chr 7:109,118,354...109,121,967
Ensembl chr 7:109,118,354...109,121,574 		JBrowse link
G Satb2 special AT-rich sequence binding protein 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 1:56,833,145...57,019,350
Ensembl chr 1:56,833,140...57,017,809 		JBrowse link
G Scn8a sodium channel, voltage-gated, type VIII, alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar ataxia		 CTD
ClinVar		 PMID:16236810 PMID:25741868 NCBI chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819 		JBrowse link
G Sel1l sel-1 suppressor of lin-12-like (C. elegans) ISO Ataxia, cerebellar, progressive early-onset, SEL1L-related OMIA PMID:22719266 PMID:37341581 NCBI chr12:91,772,817...91,815,931
Ensembl chr12:91,772,817...91,815,931 		JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chr 5:52,797,431...52,827,104
Ensembl chr 5:52,797,429...52,827,050 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:26467025 NCBI chr 2:29,013,600...29,072,483
Ensembl chr 2:29,014,193...29,072,483 		JBrowse link
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180 		JBrowse link
G Snx14 sorting nexin 14 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar ataxia		 CTD
ClinVar		 PMID:25848753 NCBI chr 9:88,258,805...88,320,982
Ensembl chr 9:88,258,800...88,321,011 		JBrowse link
G Spart spartin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:25741868 NCBI chr 3:55,019,500...55,044,753
Ensembl chr 3:55,019,529...55,044,743 		JBrowse link
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr19:4,761,236...4,804,006
Ensembl chr19:4,761,195...4,802,388 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:19481195 PMID:20887364 PMID:24033266 PMID:25533962 PMID:25741868 More... NCBI chr 2:32,677,619...32,737,249
Ensembl chr 2:32,677,614...32,737,257 		JBrowse link
G Surf1 surfeit gene 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9536098 PMID:17576681 PMID:22488715 PMID:23829769 PMID:25741868 More... NCBI chr 2:26,803,390...26,806,667
Ensembl chr 2:26,803,393...26,806,542 		JBrowse link
G Syne1 spectrin repeat containing, nuclear envelope 1 ISO DNA:nonsense, missense mutations:introns,exons:
ClinVar Annotator: match by term: Cerebellar ataxia		 ClinVar
RGD		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:17503513 RGD:13209009 NCBI chr10:4,970,192...5,501,013
Ensembl chr10:4,970,917...5,501,482 		JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 homolog (rat) ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr17:27,160,186...27,191,408
Ensembl chr17:27,160,227...27,191,408 		JBrowse link
G Tdp2 tyrosyl-DNA phosphodiesterase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr13:25,015,642...25,026,136
Ensembl chr13:25,015,662...25,026,136 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 4:43,531,513...43,562,583
Ensembl chr 4:43,531,519...43,562,691 		JBrowse link
G Unc13a unc-13 homolog A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28192369 NCBI chr 8:72,079,356...72,124,418
Ensembl chr 8:72,077,061...72,124,401 		JBrowse link
G Vps39 VPS39 HOPS complex subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 2:120,146,942...120,183,618
Ensembl chr 2:120,146,942...120,183,618 		JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr18:82,611,718...82,711,044
Ensembl chr18:82,611,718...82,711,008 		JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain containing 39 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 3:33,864,906...33,898,473
Ensembl chr 3:33,866,511...33,898,459 		JBrowse link
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 | ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16055927 PMID:16199547 PMID:17576681 PMID:22797137 More... NCBI chr 3:34,111,429...34,135,503
Ensembl chr 3:34,110,169...34,135,470 		JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 3:34,074,133...34,124,129
Ensembl chr 3:34,074,092...34,124,471 		JBrowse link
ataxia telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2310030G06Rik RIKEN cDNA 2310030G06 gene ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,650,991...50,657,827
Ensembl chr 9:50,650,991...50,657,836 		JBrowse link
G 4930550C14Rik RIKEN cDNA 4930550C14 gene ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome
ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia		 ClinVar PMID:100011 PMID:581456 PMID:622825 PMID:988733 PMID:1065243 More... NCBI chr 9:53,313,814...53,345,726
Ensembl chr 9:53,313,625...53,345,702 		JBrowse link
G Aasdhppt aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:4,294,793...4,309,656
Ensembl chr 9:4,294,793...4,309,471 		JBrowse link
G Acat1 acetyl-Coenzyme A acetyltransferase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,491,822...53,521,650
Ensembl chr 9:53,491,822...53,521,682 		JBrowse link
G AI593442 expressed sequence AI593442 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:52,584,332...52,593,434
Ensembl chr 9:52,584,342...52,591,080 		JBrowse link
G Alg9 ALG9 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,686,570...50,754,939
Ensembl chr 9:50,686,319...50,754,842 		JBrowse link
G Alkbh8 alkB homolog 8, tRNA methyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:3,335,151...3,391,154
Ensembl chr 9:3,335,140...3,391,154 		JBrowse link
G Amotl1 angiomotin-like 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,453,262...14,574,408
Ensembl chr 9:14,453,262...14,556,352 		JBrowse link
G Ankrd49 ankyrin repeat domain 49 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,690,916...14,695,869
Ensembl chr 9:14,690,914...14,696,152 		JBrowse link
G Arhgap20 Rho GTPase activating protein 20 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,676,651...51,765,158
Ensembl chr 9:51,676,637...51,765,156 		JBrowse link
G Arhgap42 Rho GTPase activating protein 42 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:8,992,508...9,239,032
Ensembl chr 9:8,994,330...9,239,106 		JBrowse link
G Atm ataxia telangiectasia mutated IMP
ISO
IAGP		 ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:
OMIM:208900		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:100011 PMID:133608 PMID:581456 PMID:622825 PMID:623656 More... RGD:10053611, RGD:12879399 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G Bak1 BCL2-antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chr17:27,238,786...27,247,601
Ensembl chr17:27,238,784...27,247,983 		JBrowse link
G Bax BCL2-associated X protein susceptibility ISO DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) RGD PMID:19898928 RGD:14394817 NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322 		JBrowse link
G Bik BCL2-interacting killer susceptibility ISO DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chr15:83,410,992...83,428,836
Ensembl chr15:83,411,063...83,428,835 		JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,818,227...7,837,123
Ensembl chr 9:7,818,228...7,837,065 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187 		JBrowse link
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:16439621 PMID:16474404 PMID:18039235 PMID:18413255 PMID:18953432 More... NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,013,486...51,031,224
Ensembl chr 9:50,972,201...51,031,175 		JBrowse link
G Casp1 caspase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:5,298,517...5,307,281
Ensembl chr 9:5,298,508...5,307,290 		JBrowse link
G Casp12 caspase 12 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:5,345,419...5,373,034
Ensembl chr 9:5,345,430...5,373,032 		JBrowse link
G Casp4 caspase 4, apoptosis-related cysteine peptidase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:5,308,816...5,336,791
Ensembl chr 9:5,308,828...5,336,783 		JBrowse link
G Ccdc82 coiled-coil domain containing 82 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:13,246,573...13,292,867
Ensembl chr 9:13,246,536...13,292,867 		JBrowse link
G Cep126 centrosomal protein 126 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:8,076,461...8,134,473
Ensembl chr 9:8,076,462...8,134,295 		JBrowse link
G Cep57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:13,717,979...13,738,698
Ensembl chr 9:13,719,088...13,738,403 		JBrowse link
G Cfap300 cilia and flagella associated protein 300 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:8,021,673...8,042,876
Ensembl chr 9:8,021,673...8,042,824 		JBrowse link
G Cfap68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,672,674...50,679,536
Ensembl chr 9:50,674,128...50,686,820 		JBrowse link
G Cntn5 contactin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:9,627,928...10,904,992
Ensembl chr 9:9,660,896...10,904,780 		JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,657,251...50,667,936
Ensembl chr 9:50,662,625...50,667,936 		JBrowse link
G Cul5 cullin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,525,881...53,578,807
Ensembl chr 9:53,525,882...53,581,314 		JBrowse link
G Cwc15 CWC15 spliceosome-associated protein ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,411,876...14,421,920
Ensembl chr 9:14,411,913...14,421,873 		JBrowse link
G Cwf19l2 CWF19 like cell cycle control factor 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:3,403,592...3,479,236
Ensembl chr 9:3,403,592...3,479,236 		JBrowse link
G Dcun1d5 defective in cullin neddylation 1 domain containing 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,176,590...7,220,880
Ensembl chr 9:7,184,520...7,208,205 		JBrowse link
G Ddi1 DNA-damage inducible 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:6,265,028...6,266,547
Ensembl chr 9:6,262,733...6,269,846 		JBrowse link
G Ddx10 DEAD box helicase 10 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,009,754...53,159,423
Ensembl chr 9:53,009,935...53,159,353 		JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,574,052...50,650,900
Ensembl chr 9:50,574,052...50,650,817 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,545,933...50,571,080
Ensembl chr 9:50,545,933...50,571,080 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:6,928,550...7,177,619
Ensembl chr 9:6,928,503...7,184,446 		JBrowse link
G Elmod1 ELMO/CED-12 domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,818,741...53,882,628
Ensembl chr 9:53,818,741...53,882,585 		JBrowse link
G Endod1 endonuclease domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,265,286...14,292,538
Ensembl chr 9:14,265,286...14,292,803 		JBrowse link
G Exph5 exophilin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,212,814...53,292,466
Ensembl chr 9:53,212,970...53,288,814 		JBrowse link
G Fam76b family with sequence similarity 76, member B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:13,738,490...13,766,033
Ensembl chr 9:13,739,012...13,766,283 		JBrowse link
G Fdx1 ferredoxin 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,854,323...51,874,902
Ensembl chr 9:51,854,606...51,874,856 		JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,679,538...50,683,981
Ensembl chr 9:50,679,536...50,684,648 		JBrowse link
G Fut4 fucosyltransferase 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,659,755...14,663,418
Ensembl chr 9:14,659,616...14,663,689 		JBrowse link
G Gm19324 predicted gene, 19324 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:8,142,542...8,181,113
Ensembl chr 9:8,142,596...8,185,168 		JBrowse link
G Gria4 glutamate receptor, ionotropic, AMPA4 (alpha 4) ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:4,417,893...4,796,250
Ensembl chr 9:4,417,896...4,796,234 		JBrowse link
G Gucy1a2 guanylate cyclase 1, soluble, alpha 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:3,532,349...3,905,791
Ensembl chr 9:3,532,778...3,894,736 		JBrowse link
G Hdac4 histone deacetylase 4 treatment ISO
IEP		 protein:altered localization:nucleus: RGD PMID:22466704 PMID:22466704 PMID:22466704 RGD:9681455, RGD:9681455, RGD:9681455 NCBI chr 1:91,856,501...92,123,424
Ensembl chr 1:91,856,501...92,123,421 		JBrowse link
G Hoatz HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,992,610...51,017,183
Ensembl chr 9:50,992,415...51,013,378 		JBrowse link
G Hspb2 heat shock protein 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,662,372...50,663,654
Ensembl chr 9:50,662,378...50,663,654 		JBrowse link
G Ifng interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108 		JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Jrkl Jrk-like ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:13,242,795...13,245,746
Ensembl chr 9:13,242,612...13,245,834 		JBrowse link
G Kbtbd3 kelch repeat and BTB (POZ) domain containing 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:4,309,743...4,331,829
Ensembl chr 9:4,309,833...4,331,732 		JBrowse link
G Kdm4d lysine (K)-specific demethylase 4D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,373,844...14,411,818
Ensembl chr 9:14,373,844...14,411,778 		JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,966,323...50,988,501
Ensembl chr 9:50,965,940...50,988,394 		JBrowse link
G Maml2 mastermind like transcriptional coactivator 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:13,296,547...13,620,829
Ensembl chr 9:13,298,306...13,620,684 		JBrowse link
G Mir34b microRNA 34b ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,014,862...51,014,945
Ensembl chr 9:51,014,862...51,014,945 		JBrowse link
G Mir34c microRNA 34c ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,014,334...51,014,410
Ensembl chr 9:51,014,334...51,014,410 		JBrowse link
G Mmp10 matrix metallopeptidase 10 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,502,343...7,510,243
Ensembl chr 9:7,502,353...7,510,241 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,344,397...7,360,461
Ensembl chr 9:7,344,381...7,369,499 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331 		JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047 		JBrowse link
G Mmp20 matrix metallopeptidase 20 (enamelysin) ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,628,232...7,674,969
Ensembl chr 9:7,628,232...7,674,980 		JBrowse link
G Mmp27 matrix metallopeptidase 27 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,571,397...7,581,886
Ensembl chr 9:7,571,397...7,581,886 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975 		JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,692,095...7,699,587
Ensembl chr 9:7,692,091...7,699,587 		JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,558,430...7,568,487
Ensembl chr 9:7,558,457...7,568,486 		JBrowse link
G Mre11a MRE11A homolog A, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,695,971...14,748,421
Ensembl chr 9:14,695,950...14,748,419 		JBrowse link
G Msantd4 Myb/SANT-like DNA-binding domain containing 4 with coiled-coils ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:4,376,552...4,386,890
Ensembl chr 9:4,376,562...4,386,870 		JBrowse link
G Mtmr2 myotubularin related protein 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:13,660,397...13,720,192
Ensembl chr 9:13,659,706...13,717,777 		JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,516,542...50,528,567
Ensembl chr 9:50,516,540...50,528,764 		JBrowse link
G Npat nuclear protein in the AT region ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 PMID:31671381 NCBI chr 9:53,448,347...53,486,867
Ensembl chr 9:53,448,347...53,485,642 		JBrowse link
G Pdgfd platelet-derived growth factor, D polypeptide ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:6,168,377...6,534,284
Ensembl chr 9:6,168,584...6,378,850 		JBrowse link
G Pgr progesterone receptor ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:8,890,017...8,968,612
Ensembl chr 9:8,899,834...8,968,612 		JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,528,621...50,536,300
Ensembl chr 9:50,528,621...50,536,300 		JBrowse link
G Piwil4 piwi-like RNA-mediated gene silencing 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,613,072...14,651,968
Ensembl chr 9:14,607,526...14,652,036 		JBrowse link
G Poglut3 protein O-glucosyltransferase 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,294,217...53,313,167
Ensembl chr 9:53,295,325...53,313,167 		JBrowse link
G Pou2af1 POU domain, class 2, associating factor 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,124,990...51,151,379
Ensembl chr 9:51,125,008...51,151,380 		JBrowse link
G Pou2af2 POU domain, class 2, associating factor 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,200,986...51,240,224
Ensembl chr 9:51,200,986...51,240,224 		JBrowse link
G Pou2af3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,181,558...51,189,865
Ensembl chr 9:51,181,558...51,190,951 		JBrowse link
G Ppp2r1b protein phosphatase 2, regulatory subunit A, beta ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,767,946...50,810,625
Ensembl chr 9:50,756,601...50,805,529 		JBrowse link
G Rab39 RAB39, member RAS oncogene family ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,595,410...53,617,532
Ensembl chr 9:53,595,410...53,617,532 		JBrowse link
G Rdx radixin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,958,450...52,000,038
Ensembl chr 9:51,958,473...52,011,763 		JBrowse link
G Sdhd succinate dehydrogenase complex, subunit D, integral membrane protein ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,507,640...50,515,149
Ensembl chr 9:50,507,657...50,515,112 		JBrowse link
G Sesn3 sestrin 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,187,597...14,237,430
Ensembl chr 9:14,186,363...14,244,397 		JBrowse link
G Sik2 salt inducible kinase 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,800,944...50,920,432
Ensembl chr 9:50,804,101...50,920,373 		JBrowse link
G Slc35f2 solute carrier family 35, member F2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,678,733...53,725,445
Ensembl chr 9:53,678,822...53,725,438 		JBrowse link
G Sln sarcolipin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,757,535...53,761,133
Ensembl chr 9:53,757,448...53,761,844 		JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,515,227...50,516,620
Ensembl chr 9:50,515,210...50,516,620 		JBrowse link
G Tmem123 transmembrane protein 123 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,764,078...7,794,334
Ensembl chr 9:7,764,042...7,794,334 		JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:8,543,868...8,680,753
Ensembl chr 9:8,544,143...8,680,742 		JBrowse link
G Yap1 yes-associated protein 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,932,000...8,004,890
Ensembl chr 9:7,932,000...8,004,597 		JBrowse link
G Zc3h12c zinc finger CCCH type containing 12C ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:52,020,869...52,080,028
Ensembl chr 9:52,022,644...52,079,872 		JBrowse link
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mre11a MRE11A homolog A, double strand break repair nuclease ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder		 CTD
ClinVar		 PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 More... NCBI chr 9:14,695,971...14,748,421
Ensembl chr 9:14,695,950...14,748,419 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:132,091,206...132,095,100
Ensembl chr 2:132,091,082...132,095,234 		JBrowse link
ataxia with oculomotor apraxia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin susceptibility ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:
DNA:missense mutation:cds:p.V320G(human)
DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)		 OMIM
ClinVar
CTD
RGD		 PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 More... RGD:10054301, RGD:10054300, RGD:1599207 NCBI chr 4:40,682,078...40,703,206
Ensembl chr 4:40,682,382...40,703,194 		JBrowse link
G Pnkp polynucleotide kinase 3'- phosphatase ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:16199547 PMID:20118933 PMID:25728773 PMID:25741868 PMID:28492532 More... NCBI chr 7:44,505,903...44,514,761
Ensembl chr 7:44,506,563...44,512,416 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:32488064 NCBI chr 2:29,013,600...29,072,483
Ensembl chr 2:29,014,193...29,072,483 		JBrowse link
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r5 phosphoinositide-3-kinase regulatory subunit 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3		 OMIM
CTD
ClinVar		 PMID:22065524 PMID:25741868 PMID:28492532 PMID:33116287 NCBI chr11:68,322,951...68,388,675
Ensembl chr11:68,322,947...68,388,675 		JBrowse link
ataxia-oculomotor apraxia type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnkp polynucleotide kinase 3'- phosphatase ISO ClinVar Annotator: match by term: Ataxia - oculomotor apraxia type 4 | ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:17576681 More... NCBI chr 7:44,505,903...44,514,761
Ensembl chr 7:44,506,563...44,512,416 		JBrowse link
Ataxia-Telangiectasia Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930550C14Rik RIKEN cDNA 4930550C14 gene ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More... NCBI chr 9:53,313,814...53,345,726
Ensembl chr 9:53,313,625...53,345,702 		JBrowse link
G Atm ataxia telangiectasia mutated ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More... NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
ataxia-telangiectasia-like disorder-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a2 collagen, type V, alpha 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 ClinVar PMID:25326637 PMID:28492532 NCBI chr 1:45,413,491...45,542,442
Ensembl chr 1:45,413,481...45,542,442 		JBrowse link
G Mre11a MRE11A homolog A, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 | ClinVar Annotator: match by term: MRE11-related condition OMIM
ClinVar		 PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 More... NCBI chr 9:14,695,971...14,748,421
Ensembl chr 9:14,695,950...14,748,419 		JBrowse link
ataxia-telangiectasia-like disorder-2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcna proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 OMIM
ClinVar		 PMID:24911150 PMID:25741868 NCBI chr 2:132,091,206...132,095,100
Ensembl chr 2:132,091,082...132,095,234 		JBrowse link
autosomal dominant cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3-like AAA ATPase 2 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr18:67,537,830...67,582,277
Ensembl chr18:67,537,834...67,582,242 		JBrowse link
G Dagla diacylglycerol lipase, alpha ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:25741868 NCBI chr19:10,222,629...10,282,323
Ensembl chr19:10,222,629...10,282,241 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:24033266 PMID:24136616 More... NCBI chr12:110,567,829...110,633,378
Ensembl chr12:110,567,886...110,633,379 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:35401678 NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:25741868 PMID:26489027 PMID:28492532 NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294 		JBrowse link
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr14:124,211,257...124,915,098
Ensembl chr14:124,215,319...124,914,539 		JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:17590087 PMID:19423733 PMID:20437544 PMID:21367767 PMID:21555639 More... NCBI chr 6:108,190,044...108,528,077
Ensembl chr 6:108,190,057...108,528,070 		JBrowse link
G Kif26b kinesin family member 26B ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:29053796 NCBI chr 1:178,356,690...178,766,765
Ensembl chr 1:178,356,690...178,766,765 		JBrowse link
G Mtcl1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:23902687 PMID:25741868 NCBI chr17:66,643,975...66,760,672
Ensembl chr17:66,643,977...66,756,745 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:25741868 NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702 		JBrowse link
G Pdyn prodynorphin ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr 2:129,528,469...129,541,858
Ensembl chr 2:129,528,485...129,541,764 		JBrowse link
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:25741868 PMID:26467025 NCBI chr 7:3,352,038...3,379,615
Ensembl chr 7:3,337,704...3,379,615 		JBrowse link
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:17940722 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:4,761,236...4,804,006
Ensembl chr19:4,761,195...4,802,388 		JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:26467025 PMID:28492532 NCBI chr 2:129,954,336...129,996,153
Ensembl chr 2:129,954,336...129,996,152 		JBrowse link
G Ttbk2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chr 2:120,563,297...120,681,111
Ensembl chr 2:120,563,297...120,681,085 		JBrowse link
autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy		 OMIM
CTD
ClinVar		 PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:17576681 More... NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184 		JBrowse link
autosomal recessive cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:24033266 PMID:25089919 PMID:25133958 PMID:25182700 PMID:25664549 More... NCBI chr 9:122,004,958...122,123,440
Ensembl chr 9:122,004,940...122,123,489 		JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29482223 NCBI chr 1:179,992,803...180,023,585
Ensembl chr 1:179,992,803...180,027,167 		JBrowse link
G Prdx3 peroxiredoxin 3 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 PMID:35792670 NCBI chr19:60,852,504...60,862,976
Ensembl chr19:60,852,489...60,862,994 		JBrowse link
G Septin11 septin 11 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 PMID:31673878 NCBI chr 5:93,227,445...93,329,237
Ensembl chr 5:93,241,296...93,324,306 		JBrowse link
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:26467025 PMID:28492532 NCBI chr19:4,761,236...4,804,006
Ensembl chr19:4,761,195...4,802,388 		JBrowse link
G Syne1 spectrin repeat containing, nuclear envelope 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:16199547 PMID:17159980 PMID:19542096 PMID:24033266 PMID:24319099 More... NCBI chr10:4,970,192...5,501,013
Ensembl chr10:4,970,917...5,501,482 		JBrowse link
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar NCBI chr12:99,850,767...99,921,482
Ensembl chr12:99,850,776...99,921,478 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:17614277 PMID:20479361 PMID:20659899 PMID:21689831 PMID:24018892 More... NCBI chr19:44,994,102...45,001,203
Ensembl chr19:44,994,102...45,001,201 		JBrowse link
G Vps13d vacuolar protein sorting 13D ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 NCBI chr 4:144,597,619...144,921,598
Ensembl chr 4:144,699,192...144,921,575 		JBrowse link
autosomal recessive spinocerebellar ataxia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 10 OMIM
ClinVar		 PMID:16199547 PMID:21092923 PMID:24033266 PMID:25089919 PMID:25133958 More... NCBI chr 9:122,004,958...122,123,440
Ensembl chr 9:122,004,940...122,123,489 		JBrowse link
autosomal recessive spinocerebellar ataxia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syt14 synaptotagmin XIV ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 11 OMIM
ClinVar		 PMID:21835308 PMID:25741868 PMID:26467025 NCBI chr 1:192,564,956...192,718,179
Ensembl chr 1:192,573,541...192,718,083 		JBrowse link
autosomal recessive spinocerebellar ataxia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 ClinVar PMID:24369382 PMID:25741868 PMID:26467025 PMID:27959697 PMID:28492532 More... NCBI chr 8:116,429,992...116,433,633
Ensembl chr 8:116,409,681...116,434,533 		JBrowse link
G Wwox WW domain-containing oxidoreductase ISO
IAGP		 ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
OMIM:614322		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11572989 PMID:16199547 PMID:17470496 PMID:17576681 More... NCBI chr 8:115,166,377...116,079,451
Ensembl chr 8:115,166,395...116,079,447 		JBrowse link
autosomal recessive spinocerebellar ataxia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grm1 glutamate receptor, metabotropic 1 ISO
IAGP		 ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 13 | ClinVar Annotator: match by term: GRM1-related condition
OMIM:614831		 OMIM
ClinVar
MouseDO		 PMID:19146831 PMID:19924463 PMID:22448230 PMID:22558107 PMID:25741868 More... NCBI chr10:10,561,803...10,958,126
Ensembl chr10:10,561,803...10,958,100 		JBrowse link
autosomal recessive spinocerebellar ataxia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 ClinVar PMID:25741868 NCBI chr 7:3,352,038...3,379,615
Ensembl chr 7:3,337,704...3,379,615 		JBrowse link
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 | ClinVar Annotator: match by term: SPTBN2-related condition OMIM
ClinVar		 PMID:17940722 PMID:23236289 PMID:23838597 PMID:25741868 PMID:26467025 More... NCBI chr19:4,761,236...4,804,006
Ensembl chr19:4,761,195...4,802,388 		JBrowse link
autosomal recessive spinocerebellar ataxia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rubcn RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 15 OMIM
ClinVar		 PMID:20826435 PMID:23728897 PMID:25741868 PMID:28492532 PMID:30237576 More... NCBI chr16:32,642,072...32,698,121
Ensembl chr16:32,642,073...32,698,136 		JBrowse link
autosomal recessive spinocerebellar ataxia 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 ClinVar PMID:24113144 PMID:24719489 PMID:24742043 PMID:25741868 PMID:28492532 More... NCBI chr17:26,048,017...26,050,817
Ensembl chr17:26,047,841...26,050,817 		JBrowse link
G Rhbdl1 rhomboid like 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 ClinVar PMID:25741868 NCBI chr17:26,053,439...26,056,101
Ensembl chr17:26,053,439...26,056,269 		JBrowse link
G Stub1 STIP1 homology and U-Box containing protein 1 ISO
IAGP		 ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16
OMIM:615768		 OMIM
ClinVar
MouseDO		 PMID:24113144 PMID:24312598 PMID:24719489 PMID:24742043 PMID:25258038 More... NCBI chr17:26,049,608...26,051,893
Ensembl chr17:26,049,479...26,052,378 		JBrowse link
G Wdr24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 ClinVar PMID:25741868 NCBI chr17:26,042,601...26,047,704
Ensembl chr17:26,042,601...26,047,704 		JBrowse link
autosomal recessive spinocerebellar ataxia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cwf19l1 CWF19 like cell cycle control factor 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 17 OMIM
ClinVar		 PMID:15981765 PMID:16199547 PMID:18414213 PMID:25361784 PMID:25741868 More... NCBI chr19:44,097,076...44,124,324
Ensembl chr19:44,097,076...44,124,315 		JBrowse link
autosomal recessive spinocerebellar ataxia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grid2 glutamate receptor, ionotropic, delta 2 ISO
IAGP		 ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 18
OMIM:616204		 OMIM
ClinVar
MouseDO		 PMID:23611888 PMID:24078737 PMID:25741868 PMID:27980096 PMID:28492532 NCBI chr 6:63,230,118...64,681,305
Ensembl chr 6:63,232,860...64,681,307 		JBrowse link
autosomal recessive spinocerebellar ataxia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a1 solute carrier family 9 (sodium/hydrogen exchanger), member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome		 OMIM
CTD
ClinVar		 PMID:25205112 PMID:25741868 PMID:28492532 PMID:30018422 NCBI chr 4:133,097,022...133,151,013
Ensembl chr 4:133,097,017...133,151,013 		JBrowse link
autosomal recessive spinocerebellar ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pmpca peptidase (mitochondrial processing) alpha ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2 | ClinVar Annotator: match by term: CPD III
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10528257 PMID:17576681 PMID:25741868 PMID:25808372 More... NCBI chr 2:26,275,554...26,287,134
Ensembl chr 2:26,279,351...26,287,134 		JBrowse link
autosomal recessive spinocerebellar ataxia 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Cytb cytochrome b, mitochondrial ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 ClinVar NCBI chr MT:14,145...15,288
Ensembl chr MT:14,145...15,288 		JBrowse link
G Snx14 sorting nexin 14 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 | ClinVar Annotator: match by term: SNX14-related condition OMIM
ClinVar		 PMID:24501761 PMID:25439728 PMID:25741868 PMID:25848753 PMID:27913285 More... NCBI chr 9:88,258,805...88,320,982
Ensembl chr 9:88,258,800...88,321,011 		JBrowse link
autosomal recessive spinocerebellar ataxia 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scyl1 SCY1-like 1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | ClinVar Annotator: match by term: CALFAN syndrome | ClinVar Annotator: match by term: SCYL1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26581903 PMID:28492532 PMID:29419818 PMID:30531813 More... NCBI chr19:5,808,450...5,821,461
Ensembl chr19:5,808,379...5,821,447 		JBrowse link
autosomal recessive spinocerebellar ataxia 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vwa3b von Willebrand factor A domain containing 3B ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 22 OMIM
ClinVar		 PMID:25741868 PMID:26157035 NCBI chr 1:37,068,372...37,226,689
Ensembl chr 1:37,065,677...37,226,694 		JBrowse link
autosomal recessive spinocerebellar ataxia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdp2 tyrosyl-DNA phosphodiesterase 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 23 OMIM
ClinVar		 PMID:24658003 PMID:25741868 PMID:30109272 NCBI chr13:25,015,642...25,026,136
Ensembl chr13:25,015,662...25,026,136 		JBrowse link
autosomal recessive spinocerebellar ataxia 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 24 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26872069 PMID:27545674 PMID:27545681 More... NCBI chr 9:103,923,786...103,940,767
Ensembl chr 9:103,923,798...103,940,333 		JBrowse link
autosomal recessive spinocerebellar ataxia 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg5 autophagy related 5 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 25 ClinVar
OMIM		 PMID:15981765 PMID:26812546 NCBI chr10:44,144,325...44,240,295
Ensembl chr10:44,144,354...44,240,287 		JBrowse link
autosomal recessive spinocerebellar ataxia 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 26 OMIM
ClinVar		 PMID:16875718 PMID:19362955 PMID:20530282 PMID:21057378 PMID:22026922 More... NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865 		JBrowse link
autosomal recessive spinocerebellar ataxia 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap2 ganglioside-induced differentiation-associated-protein 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 27 OMIM
ClinVar		 PMID:25741868 PMID:30084953 NCBI chr 3:100,069,843...100,117,909
Ensembl chr 3:100,069,697...100,114,297 		JBrowse link
autosomal recessive spinocerebellar ataxia 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thg1l tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 28 OMIM
ClinVar		 PMID:1168944 PMID:25741868 PMID:27307223 PMID:28097321 NCBI chr11:45,836,132...45,846,330
Ensembl chr11:45,837,670...45,846,321 		JBrowse link
autosomal recessive spinocerebellar ataxia 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps41 VPS41 HOPS complex subunit ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 29 OMIM
ClinVar		 PMID:25741868 PMID:32808683 PMID:33764426 PMID:33851776 NCBI chr13:18,901,462...19,050,981
Ensembl chr13:18,901,456...19,050,981 		JBrowse link
autosomal recessive spinocerebellar ataxia 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitrm1 pitrilysin metallepetidase 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 30 OMIM
ClinVar		 PMID:26697887 PMID:28492532 PMID:29383861 PMID:29764912 NCBI chr13:6,598,158...6,630,194
Ensembl chr13:6,598,185...6,630,551 		JBrowse link
autosomal recessive spinocerebellar ataxia 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg7 autophagy related 7 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 31 OMIM
ClinVar		 PMID:25741868 PMID:34161705 PMID:35405176 NCBI chr 6:114,620,075...114,837,565
Ensembl chr 6:114,620,058...114,837,575 		JBrowse link
autosomal recessive spinocerebellar ataxia 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdx3 peroxiredoxin 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 32 OMIM
ClinVar		 PMID:25741868 PMID:33889951 PMID:35766882 PMID:35792670 NCBI chr19:60,852,504...60,862,976
Ensembl chr19:60,852,489...60,862,994 		JBrowse link
autosomal recessive spinocerebellar ataxia 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnu12 RNA U12, small nuclear ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 33 OMIM
ClinVar		 PMID:27863452 NCBI chr15:83,033,846...83,033,995
Ensembl chr15:83,033,845...83,033,995 		JBrowse link
autosomal recessive spinocerebellar ataxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps13d vacuolar protein sorting 13D ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | ClinVar Annotator: match by term: VPS13D-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11960835 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 4:144,597,619...144,921,598
Ensembl chr 4:144,699,192...144,921,575 		JBrowse link
autosomal recessive spinocerebellar ataxia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpp1 tripeptidyl peptidase I ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 7 | ClinVar Annotator: match by term: TPP1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:10862088 More... NCBI chr 7:105,394,018...105,401,489
Ensembl chr 7:105,394,018...105,401,442 		JBrowse link
autosomal recessive spinocerebellar ataxia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 (alpha) ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:25741868 PMID:26467025 PMID:27782104 PMID:28492532 NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614 		JBrowse link
G Fbxo5 F-box protein 5 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chr10:5,749,155...5,755,465
Ensembl chr10:5,749,160...5,755,600 		JBrowse link
G Mtrf1l mitochondrial translational release factor 1-like ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chr10:5,760,151...5,775,015
Ensembl chr10:5,761,887...5,773,910 		JBrowse link
G Myct1 myc target 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chr10:5,543,728...5,556,789
Ensembl chr10:5,543,775...5,556,904 		JBrowse link
G Rgs17 regulator of G-protein signaling 17 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chr10:5,775,663...5,872,413
Ensembl chr10:5,775,663...5,872,400 		JBrowse link
G Smo smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia ClinVar PMID:24728327 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364 		JBrowse link
G Syne1 spectrin repeat containing, nuclear envelope 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:		 OMIM
ClinVar
CTD
RGD		 PMID:3169216 PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 More... RGD:13209001 NCBI chr10:4,970,192...5,501,013
Ensembl chr10:4,970,917...5,501,482 		JBrowse link
G Vip vasoactive intestinal polypeptide ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chr10:5,589,131...5,597,617
Ensembl chr10:5,589,218...5,597,617 		JBrowse link
CAPOS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide ISO DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss		 OMIM
CTD
ClinVar
RGD		 PMID:8733056 PMID:15260953 PMID:18414213 PMID:18675996 PMID:19652145 More... RGD:11576280 NCBI chr 7:24,677,592...24,705,338
Ensembl chr 7:24,677,592...24,705,383 		JBrowse link
Cayman type cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atcay ataxia, cerebellar, Cayman type ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cayman type cerebellar ataxia
OMIM:601238		 OMIM
CTD
ClinVar
MouseDO		 PMID:25741868 PMID:28492532 PMID:29449188 NCBI chr10:81,040,338...81,067,037
Ensembl chr10:81,040,342...81,066,667 		JBrowse link
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci Fanconi anemia, complementation group I ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 7:79,042,056...79,100,013
Ensembl chr 7:79,041,677...79,100,012 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chr17:88,282,478...88,298,320
Ensembl chr17:88,282,490...88,298,320 		JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110 		JBrowse link
cerebellar ataxia type 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 41 OMIM
ClinVar		 PMID:25477146 PMID:25741868 PMID:28492532 NCBI chr 3:36,674,626...36,744,276
Ensembl chr 3:36,674,631...36,744,316 		JBrowse link
cerebellar ataxia type 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1g calcium channel, voltage-dependent, T type, alpha 1G subunit ISO
IAGP		 ClinVar Annotator: match by term: Spinocerebellar ataxia type 42
OMIM:616795		 OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:26456284 PMID:26715324 PMID:28490766 PMID:28492532 More... NCBI chr11:94,299,217...94,365,226
Ensembl chr11:94,299,217...94,365,024 		JBrowse link
cerebellar ataxia type 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mme membrane metallo endopeptidase ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 43 OMIM
ClinVar		 PMID:15464186 PMID:24033266 PMID:25565308 PMID:25741868 PMID:26991897 More... NCBI chr 3:63,202,632...63,291,134
Ensembl chr 3:63,148,958...63,293,451 		JBrowse link
cerebellar ataxia type 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pum1 pumilio RNA-binding family member 1 ISO ClinVar Annotator: match by term: PUM1-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 47 OMIM
ClinVar		 PMID:25741868 PMID:29474920 PMID:30903679 PMID:31859446 PMID:35386260 NCBI chr 4:130,390,509...130,508,875
Ensembl chr 4:130,390,632...130,508,875 		JBrowse link
cerebellar ataxia type 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 48 ClinVar PMID:24719489 PMID:25741868 PMID:28492532 PMID:30381368 PMID:31126790 More... NCBI chr17:26,048,017...26,050,817
Ensembl chr17:26,047,841...26,050,817 		JBrowse link
G Rhbdl1 rhomboid like 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 48 ClinVar PMID:25741868 NCBI chr17:26,053,439...26,056,101
Ensembl chr17:26,053,439...26,056,269 		JBrowse link
G Stub1 STIP1 homology and U-Box containing protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 48 OMIM
ClinVar		 PMID:24719489 PMID:25258038 PMID:25741868 PMID:28492532 PMID:30381368 More... NCBI chr17:26,049,608...26,051,893
Ensembl chr17:26,049,479...26,052,378 		JBrowse link
G Wdr24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 48 ClinVar PMID:25741868 NCBI chr17:26,042,601...26,047,704
Ensembl chr17:26,042,601...26,047,704 		JBrowse link
CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects OMIM
ClinVar		 PMID:25741868 PMID:29302074 PMID:30950035 PMID:32504085 PMID:34089229 NCBI chr 7:25,358,578...25,367,457
Ensembl chr 7:25,358,589...25,370,793 		JBrowse link
cerebellar ataxia, mental retardation and dysequlibrium syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp8a2 ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 IAGP
ISO		 OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dysequilibrium syndrome		 MouseDO
CTD
ClinVar		 PMID:25741868 NCBI chr14:59,884,980...60,324,363
Ensembl chr14:59,875,989...60,434,628 		JBrowse link
G Car8 carbonic anhydrase 8 IAGP OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 MouseDO NCBI chr 4:8,141,491...8,239,226
Ensembl chr 4:8,143,362...8,239,041 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cerebellar disorder, nonprogressive, with mental retardation | ClinVar Annotator: match by term: Cerebellar hypoplasia, VLDLR associated | ClinVar Annotator: match by term: Dysequilibrium syndrome		 CTD
ClinVar		 PMID:11913577 PMID:16080122 PMID:16199547 PMID:18043714 PMID:18326629 More... NCBI chr19:27,190,070...27,231,631
Ensembl chr19:27,193,884...27,231,631 		JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1 | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 OMIM
ClinVar		 PMID:11913577 PMID:16080122 PMID:16199547 PMID:18043714 PMID:18326629 More... NCBI chr19:27,190,070...27,231,631
Ensembl chr19:27,193,884...27,231,631 		JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 2 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16371500 PMID:21885617 PMID:25558065 PMID:25741868 PMID:26437881 More... NCBI chr11:75,331,769...75,345,544
Ensembl chr11:75,331,770...75,345,543 		JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car8 carbonic anhydrase 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3		 OMIM
CTD
ClinVar		 PMID:19461874 PMID:21937992 PMID:25741868 NCBI chr 4:8,141,491...8,239,226
Ensembl chr 4:8,143,362...8,239,041 		JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp8a2 ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 OMIM
ClinVar		 PMID:16199547 PMID:18326629 PMID:22892528 PMID:25741868 PMID:28454995 More... NCBI chr14:59,884,980...60,324,363
Ensembl chr14:59,875,989...60,434,628 		JBrowse link
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elf2 E74-like factor 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome ClinVar PMID:29628936 NCBI chr 3:51,160,141...51,248,101
Ensembl chr 3:51,160,141...51,248,084 		JBrowse link
G Rfc1 replication factor C (activator 1) 1 ISO DNA:repeats:intron:(AAGGG)n (human)
ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
DNA:repeat:intron:
DNA:repeat:intron: 		OMIM
ClinVar
RGD		 PMID:25741868 PMID:35883251 PMID:36478048 PMID:35970061 PMID:32040566 More... RGD:401940162, RGD:41404728, RGD:41404727 NCBI chr 5:65,419,195...65,492,988
Ensembl chr 5:65,419,193...65,493,013 		JBrowse link
cerebellofaciodental syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brf1 BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome		 OMIM
CTD
ClinVar		 PMID:25561519 PMID:25741868 PMID:27748960 PMID:28492532 NCBI chr12:112,919,251...112,964,327
Ensembl chr12:112,923,705...112,964,324 		JBrowse link
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankfy1 ankyrin repeat and FYVE domain containing 1 IAGP OMIM:270550 MouseDO NCBI chr11:72,580,828...72,662,972
Ensembl chr11:72,580,832...72,662,972 		JBrowse link
G Sacs sacsin ISO
IAGP		 ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: SACS-related condition
CTD Direct Evidence: marker/mechanism
OMIM:270550		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:9892370 PMID:10053011 PMID:10610707 PMID:10655055 More... NCBI chr14:61,375,870...61,478,142
Ensembl chr14:61,375,906...61,478,144 		JBrowse link
G Sgcg sarcoglycan, gamma (dystrophin-associated glycoprotein) ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr14:61,456,555...61,495,939
Ensembl chr14:61,456,564...61,495,939 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor I ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia ClinVar PMID:25326637 PMID:28492532 NCBI chr 4:47,353,258...47,414,926
Ensembl chr 4:47,353,222...47,414,931 		JBrowse link
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		 OMIM
CTD
ClinVar		 PMID:25466870 PMID:25741868 PMID:28940199 PMID:32738013 PMID:33486469 NCBI chr14:119,175,371...119,219,114
Ensembl chr14:119,175,388...119,219,109 		JBrowse link
G Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar PMID:2256350 PMID:22563501 PMID:24220513 PMID:32214227 PMID:33983693 NCBI chr 4:101,353,751...101,499,996
Ensembl chr 4:101,353,828...101,499,996 		JBrowse link
G Mafa MAF bZIP transcription factor A ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar PMID:25741868 NCBI chr15:75,617,350...75,620,170
Ensembl chr15:75,617,339...75,620,077 		JBrowse link
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frmd4a FERM domain containing 4A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		 OMIM
CTD
ClinVar		 PMID:25388005 PMID:25741868 PMID:28492532 NCBI chr 2:4,022,461...4,618,854
Ensembl chr 2:4,022,528...4,618,854 		JBrowse link
dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Dentatorubral-pallidoluysian atrophy OMIM
ClinVar		 PMID:25741868 NCBI chr 6:124,719,507...124,733,450
Ensembl chr 6:124,719,507...124,733,487
Ensembl chr 6:124,719,507...124,733,487 		JBrowse link
episodic ataxia type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacnb4 calcium channel, voltage-dependent, beta 4 subunit ISO ClinVar Annotator: match by term: Episodic ataxia type 5
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:10762541 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 NCBI chr 2:52,318,332...52,566,816
Ensembl chr 2:52,318,337...52,566,843 		JBrowse link
episodic ataxia type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc1a3 solute carrier family 1 (glial high affinity glutamate transporter), member 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16116111 PMID:19139306 PMID:23107647 PMID:24214974 PMID:25497598 More... NCBI chr15:8,663,608...8,742,648
Ensembl chr15:8,663,608...8,740,248 		JBrowse link
familial hemiplegic migraine 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ISO ClinVar Annotator: match by term: Migraine, familial hemiplegic 1, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1 | ClinVar Annotator: match by term: Migraine, sporadic hemiplegic, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Sporadic hemiplegic migraine
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7537420 PMID:8734765 PMID:8898206 PMID:9329229 PMID:9488686 More... NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875 		JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1 ClinVar PMID:25741868 NCBI chr  X:7,588,212...7,594,439
Ensembl chr  X:7,580,572...7,594,445 		JBrowse link
Friedreich ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr1a angiotensin II receptor, type 1a ISO DNA:SNP: :rs5186(human) RGD PMID:21771600 RGD:401717567 NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850 		JBrowse link
G Fxn frataxin treatment
onset		 ISO
IAGP		 DNA:point mutation:exon:p.G130V
ClinVar Annotator: match by term: Friedreich ataxia
DNA:repeat,deletion:intron,exon:GAA(human)
CTD Direct Evidence: marker/mechanism
OMIM:229300 | OMIM:601992
DNA:repeat:intron:GAA (human)		 ClinVar
CTD
MouseDO
RGD		 PMID:8596916 PMID:9090376 PMID:9150176 PMID:9700204 PMID:9737785 More... RGD:1598961, RGD:401793713, RGD:401793711, RGD:401793708, RGD:401793707, RGD:401717566, RGD:1582636 NCBI chr19:24,236,909...24,257,954
Ensembl chr19:24,238,817...24,257,969 		JBrowse link
G mt-Nd1 NADH dehydrogenase 1, mitochondrial ISO DNA:missense mutation:cds:m.3696C>T (human) RGD PMID:18807169 RGD:5490251 NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707 		JBrowse link
Friedreich ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxn frataxin ISO ClinVar Annotator: match by term: Friedreich ataxia 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9090376 PMID:9737785 PMID:10913738 PMID:19775837 PMID:25566998 More... NCBI chr19:24,236,909...24,257,954
Ensembl chr19:24,238,817...24,257,969 		JBrowse link
Gillespie syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itpr1 inositol 1,4,5-trisphosphate receptor 1 ISO ClinVar Annotator: match by term: Aniridia-cerebellar ataxia-intellectual disability syndrome | ClinVar Annotator: match by term: Gillespie syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7952360 PMID:9536098 PMID:10664581 PMID:17558851 PMID:17576681 More... NCBI chr 6:108,190,044...108,528,077
Ensembl chr 6:108,190,057...108,528,070 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Gillespie syndrome ClinVar PMID:25741868 PMID:26899008 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
Gordon Holmes syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome ClinVar PMID:25741868 NCBI chr 8:3,565,341...3,594,267
Ensembl chr 8:3,565,384...3,594,267 		JBrowse link
G Rnf216 ring finger protein 216 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar ataxia and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome		 OMIM
CTD
ClinVar		 PMID:11932290 PMID:23656588 PMID:25741868 PMID:25841028 PMID:28492532 More... NCBI chr 5:142,976,648...143,098,793
Ensembl chr 5:142,976,648...143,098,749 		JBrowse link
hypomyelinating leukodystrophy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 4:116,664,846...116,676,641
Ensembl chr 4:116,664,920...116,676,637 		JBrowse link
G Polr3a polymerase (RNA) III (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome ClinVar PMID:21855841 PMID:22855961 PMID:25741868 PMID:27029625 PMID:28447407 More... NCBI chr14:24,498,762...24,537,126
Ensembl chr14:24,498,764...24,537,126 		JBrowse link
G Polr3b polymerase (RNA) III (DNA directed) polypeptide B ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18851904 PMID:22036171 More... NCBI chr10:84,458,156...84,563,042
Ensembl chr10:84,458,156...84,563,042 		JBrowse link
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica		 OMIM
CTD
ClinVar		 PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr14:73,599,666...73,622,729
Ensembl chr14:73,599,666...73,622,729 		JBrowse link
Machado-Joseph disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn3 ataxin 3 susceptibility
treatment		 ISO ClinVar Annotator: match by term: Azorean disease
CTD Direct Evidence: marker/mechanism
protein:increased degradation, altered localization:neuron, nucleus		 OMIM
ClinVar
CTD
RGD		 PMID:25741868 PMID:31378764 PMID:7874163 PMID:18841197 PMID:18385100 More... RGD:1599419, RGD:11558010, RGD:5131159, RGD:11557998, RGD:11557997 NCBI chr12:101,885,160...101,928,139
Ensembl chr12:101,885,160...101,924,505 		JBrowse link
G Becn1 beclin 1, autophagy related IEP
ISO		 protein:decreased expression:brain
protein:decreased expression:fibroblast		 RGD PMID:21478185 PMID:21478185 RGD:6483072, RGD:6483072 NCBI chr11:101,179,084...101,193,112
Ensembl chr11:101,176,778...101,193,112 		JBrowse link
G S100b S100 protein, beta polypeptide, neural ISO protein:increased expression:serum RGD PMID:21743141 RGD:5508762 NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993 		JBrowse link
G Slc18a2 solute carrier family 18 (vesicular monoamine), member 2 ISO protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr19:59,249,310...59,284,444
Ensembl chr19:59,249,328...59,284,444 		JBrowse link
G Th tyrosine hydroxylase ISO protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr 7:142,446,516...142,453,732
Ensembl chr 7:142,446,489...142,484,865 		JBrowse link
Marinesco-Sjogren syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2a eukaryotic translation initiation factor 2A ISO ClinVar Annotator: match by term: Marinesco-Sjögren syndrome ClinVar PMID:25741868 NCBI chr 3:58,433,252...58,464,922
Ensembl chr 3:58,433,242...58,464,922 		JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Marinesco-Sjogren Syndrome | ClinVar Annotator: match by term: Marinesco-Sjogren-Garland Syndrome | ClinVar Annotator: match by term: Marinesco-Sjögren syndrome ClinVar PMID:9536098 PMID:10665502 PMID:12692552 PMID:16199547 PMID:16282977 More... NCBI chr18:35,399,449...35,632,443
Ensembl chr18:35,399,449...35,632,833 		JBrowse link
mitochondrial DNA depletion syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitrm1 pitrilysin metallepetidase 1 ISO ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia ClinVar PMID:29764912 NCBI chr13:6,598,158...6,630,194
Ensembl chr13:6,598,185...6,630,551 		JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: mitochondrial hepatopathy ClinVar PMID:25741868 NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | ClinVar Annotator: match by term: mitochondrial hepatopathy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11431692 PMID:12707443 PMID:12872260 PMID:16135556 PMID:17614277 More... NCBI chr19:44,994,102...45,001,203
Ensembl chr19:44,994,102...45,001,201 		JBrowse link
Myelocerebellar Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd9l sterile alpha motif domain containing 9-like ISO ClinVar Annotator: match by term: Ataxia-pancytopenia syndrome | ClinVar Annotator: match by term: Myelocerebellar disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:283689 PMID:2569483 PMID:25741868 PMID:27259050 PMID:28202457 More... NCBI chr 6:3,372,257...3,399,458
Ensembl chr 6:3,372,257...3,399,572 		JBrowse link
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Caprin1 cell cycle associated protein 1 ISO ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline OMIM
ClinVar		 PMID:25741868 PMID:36136249 NCBI chr 2:103,593,292...103,627,946
Ensembl chr 2:103,593,286...103,627,994 		JBrowse link
nonprogressive cerebellar ataxia with mental retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aadacl3 arylacetamide deacetylase like 3 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 4:144,180,341...144,190,326
Ensembl chr 4:144,180,341...144,190,326 		JBrowse link
G Aadacl4 arylacetamide deacetylase like 4 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 4:144,340,277...144,349,968
Ensembl chr 4:144,340,277...144,349,968 		JBrowse link
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: CAMTA1-related condition | ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:22693284 PMID:24738973 PMID:25326637 PMID:25741868 PMID:28492532 More... NCBI chr 4:151,143,980...151,946,225
Ensembl chr 4:151,143,982...151,946,333 		JBrowse link
G Cfap107 cilia and flagella associated protein 107 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 4:144,144,759...144,165,363
Ensembl chr 4:144,144,759...144,165,342 		JBrowse link
G Dhrs3 dehydrogenase/reductase 3 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 4:144,618,712...144,654,214
Ensembl chr 4:144,619,397...144,654,779 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161 		JBrowse link
G Miip migration and invasion inhibitory protein ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 4:147,945,235...147,953,176
Ensembl chr 4:147,945,235...147,953,273 		JBrowse link
G Nid1 nidogen 1 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr13:13,612,252...13,686,849
Ensembl chr13:13,612,136...13,686,854 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 4:147,994,210...148,021,233
Ensembl chr 4:147,994,210...148,021,224 		JBrowse link
G Pou4f1 POU domain, class 4, transcription factor 1 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr14:104,699,111...104,705,554
Ensembl chr14:104,699,112...104,705,435 		JBrowse link
G Pramel13 PRAME like 13 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 4:144,118,244...144,135,037
Ensembl chr 4:144,118,244...144,135,034 		JBrowse link
G Prdm16 PR domain containing 16 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 4:154,400,579...154,721,851
Ensembl chr 4:154,400,582...154,721,330 		JBrowse link
G Slc9a1 solute carrier family 9 (sodium/hydrogen exchanger), member 1 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 4:133,097,022...133,151,013
Ensembl chr 4:133,097,017...133,151,013 		JBrowse link
G Smyd3 SET and MYND domain containing 3 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 1:178,779,525...179,345,618
Ensembl chr 1:178,779,525...179,345,606 		JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440 		JBrowse link
G Tnfrsf8 tumor necrosis factor receptor superfamily, member 8 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 4:144,993,702...145,041,734
Ensembl chr 4:144,993,707...145,041,734 		JBrowse link
G Vps13d vacuolar protein sorting 13D ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 4:144,597,619...144,921,598
Ensembl chr 4:144,699,192...144,921,575 		JBrowse link
primary coenzyme Q10 deficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42bpa CDC42 binding protein kinase alpha ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 ClinVar PMID:24164873 NCBI chr 1:179,787,058...179,993,171
Ensembl chr 1:179,788,037...179,993,168 		JBrowse link
G Coq8a coenzyme Q8A ISO
IAGP		 ClinVar Annotator: match by term: COQ8A-related condition | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9
CTD Direct Evidence: marker/mechanism
OMIM:612016		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:12682339 PMID:15326254 PMID:16199547 PMID:17576681 More... NCBI chr 1:179,992,803...180,023,585
Ensembl chr 1:179,992,803...180,027,167 		JBrowse link
short-rib thoracic dysplasia 9 with or without polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700037C18Rik RIKEN cDNA 1700037C18 gene ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,723,662...3,726,553
Ensembl chr16:3,713,043...3,726,553 		JBrowse link
G 4930562C15Rik RIKEN cDNA 4930562C15 gene ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,653,280...4,685,555
Ensembl chr16:4,653,280...4,685,550 		JBrowse link
G Abca3 ATP-binding cassette, sub-family A member 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,570,997...24,629,178
Ensembl chr17:24,570,924...24,629,175 		JBrowse link
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,102,750...4,255,094
Ensembl chr16:4,105,393...4,238,362 		JBrowse link
G Amdhd2 amidohydrolase domain containing 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,374,807...24,382,752
Ensembl chr17:24,374,807...24,382,740 		JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,759,290...4,783,362
Ensembl chr16:4,759,300...4,782,069 		JBrowse link
G Antkmt adenine nucleotide translocase lysine methyltransferase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,009,474...26,011,761
Ensembl chr17:26,009,054...26,011,875 		JBrowse link
G Arhgdig Rho GDP dissociation inhibitor gamma ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,418,157...26,420,324
Ensembl chr17:26,418,157...26,426,760 		JBrowse link
G Art2b ADP-ribosyltransferase 2b ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 7:101,224,936...101,234,790
Ensembl chr 7:101,226,177...101,234,807 		JBrowse link
G Atp6v0c ATPase, H+ transporting, lysosomal V0 subunit C ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,382,839...24,388,652
Ensembl chr17:24,382,840...24,388,676 		JBrowse link
G Axin1 axin 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,350,294...26,414,784
Ensembl chr17:26,357,662...26,414,785 		JBrowse link
G Baiap3 BAI1-associated protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,461,633...25,475,255
Ensembl chr17:25,461,633...25,475,338 		JBrowse link
G Bicdl2 BICD family like cargo adaptor 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,863,663...23,887,595
Ensembl chr17:23,879,480...23,887,595 		JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,692,858...24,694,443
Ensembl chr17:24,692,858...24,694,443 		JBrowse link
G Cacna1h calcium channel, voltage-dependent, T type, alpha 1H subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,593,259...25,655,308
Ensembl chr17:25,593,259...25,652,759 		JBrowse link
G Capn15 calpain 15 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,177,338...26,204,753
Ensembl chr17:26,177,338...26,204,770 		JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,706,871...24,727,883
Ensembl chr17:24,707,575...24,727,645 		JBrowse link
G Ccdc154 coiled-coil domain containing 154 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,381,142...25,390,887
Ensembl chr17:25,381,435...25,390,887 		JBrowse link
G Ccdc78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,005,554...26,009,487
Ensembl chr17:26,005,554...26,009,487 		JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,441,518...24,470,333
Ensembl chr17:24,441,172...24,470,458 		JBrowse link
G Cdip1 cell death inducing Trp53 target 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,583,325...4,608,156
Ensembl chr16:4,568,212...4,608,156 		JBrowse link
G Chtf18 CTF18, chromosome transmission fidelity factor 18 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,938,004...25,946,409
Ensembl chr17:25,937,900...25,946,393 		JBrowse link
G Ciao3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,992,750...26,002,306
Ensembl chr17:25,992,750...26,002,306 		JBrowse link
G Clcn7 chloride channel, voltage-sensitive 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,352,353...25,381,077
Ensembl chr17:25,352,365...25,381,078 		JBrowse link
G Cldn6 claudin 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,898,345...23,901,417
Ensembl chr17:23,898,223...23,901,420 		JBrowse link
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,901,558...23,903,000
Ensembl chr17:23,901,558...23,903,000 		JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,725,058...3,760,163
Ensembl chr16:3,726,665...3,759,011 		JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,444,748...4,497,584
Ensembl chr16:4,443,997...4,497,641 		JBrowse link
G Cramp1 cramped chromatin regulator 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:25,180,200...25,234,819
Ensembl chr17:25,180,200...25,234,762 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861 		JBrowse link
G Decr2 2-4-dienoyl-Coenzyme A reductase 2, peroxisomal ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,300,182...26,309,096
Ensembl chr17:26,300,182...26,309,311 		JBrowse link
G Dnaaf8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,782,152...4,796,827
Ensembl chr16:4,782,090...4,796,826
Ensembl chr16:4,782,090...4,796,826 		JBrowse link
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,501,934...4,525,559
Ensembl chr16:4,457,853...4,525,559 		JBrowse link
G Dnase1 deoxyribonuclease I ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,855,007...3,857,888
Ensembl chr16:3,854,806...3,857,888 		JBrowse link
G Dnase1l2 deoxyribonuclease 1-like 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,659,054...24,662,075
Ensembl chr17:24,659,055...24,662,079 		JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,662,752...24,674,366
Ensembl chr17:24,662,752...24,689,287 		JBrowse link
G Eci1 enoyl-Coenzyme A delta isomerase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,645,657...24,658,290
Ensembl chr17:24,645,615...24,658,322 		JBrowse link
G Elob elongin B ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,043,714...24,048,083
Ensembl chr17:24,043,712...24,048,110 		JBrowse link
G Eme2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:25,111,126...25,114,061
Ensembl chr17:25,107,460...25,114,061 		JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:25,067,866...25,069,276
Ensembl chr17:25,067,866...25,069,338 		JBrowse link
G Fam234a family with sequence similarity 234, member A ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,431,673...26,463,216
Ensembl chr17:26,430,796...26,463,216 		JBrowse link
G Fbxl16 F-box and leucine-rich repeat protein 16 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,027,435...26,040,236
Ensembl chr17:26,028,059...26,040,229 		JBrowse link
G Flywch1 FLYWCH-type zinc finger 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,971,767...23,993,504
Ensembl chr17:23,971,767...23,990,576 		JBrowse link
G Flywch2 FLYWCH family member 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,995,888...24,005,190
Ensembl chr17:23,995,890...24,005,055 		JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,912,164...24,915,065
Ensembl chr17:24,912,161...24,915,503 		JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,412,217...4,443,076
Ensembl chr16:4,412,577...4,442,788 		JBrowse link
G Gm41409 predicted gene, 41409 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,593,606...3,596,221
Ensembl chr16:3,588,318...3,603,593 		JBrowse link
G Gng13 guanine nucleotide binding protein (G protein), gamma 13 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,936,146...25,938,076
Ensembl chr17:25,936,145...25,938,380 		JBrowse link
G Gnptg N-acetylglucosamine-1-phosphotransferase, gamma subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,451,324...25,459,302
Ensembl chr17:25,452,305...25,459,098 		JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:25,056,863...25,083,424
Ensembl chr17:25,059,117...25,083,424 		JBrowse link
G Haghl hydroxyacylglutathione hydrolase-like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,998,817...26,004,560
Ensembl chr17:25,998,817...26,004,647 		JBrowse link
G Hcfc1r1 host cell factor C1 regulator 1 (XPO1-dependent) ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,892,570...23,894,499
Ensembl chr17:23,892,570...23,894,201 		JBrowse link
G Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,544,225...4,584,606
Ensembl chr16:4,544,225...4,584,606 		JBrowse link
G Hs3st6 heparan sulfate (glucosamine) 3-O-sulfotransferase 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,971,565...24,977,664
Ensembl chr17:24,971,962...24,977,658 		JBrowse link
G Ift140 intraflagellar transport 140 ISO
IAGP		 ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly
OMIM:266920		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19370764 PMID:20301784 More... NCBI chr17:25,235,056...25,318,461
Ensembl chr17:25,235,059...25,318,469 		JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:25,096,818...25,100,985
Ensembl chr17:25,084,971...25,100,984 		JBrowse link
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,048,017...26,050,817
Ensembl chr17:26,047,841...26,050,817 		JBrowse link
G Jpt2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:25,161,444...25,179,597
Ensembl chr17:25,156,393...25,179,663 		JBrowse link
G Kctd5 potassium channel tetramerisation domain containing 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,266,694...24,292,459
Ensembl chr17:24,266,708...24,292,459 		JBrowse link
G Kremen2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,960,173...23,965,305
Ensembl chr17:23,960,171...23,964,807 		JBrowse link
G Lmf1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,798,143...25,886,381
Ensembl chr17:25,798,059...25,881,800 		JBrowse link
G Luc7l Luc7-like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,471,874...26,504,484
Ensembl chr17:26,471,870...26,504,478 		JBrowse link
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:25,116,480...25,155,951
Ensembl chr17:25,111,127...25,155,942 		JBrowse link
G Mcrip2 MAPK regulated corepressor interacting protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,082,672...26,087,738
Ensembl chr17:26,082,672...26,087,738 		JBrowse link
G Mefv Mediterranean fever ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961 		JBrowse link
G Meiob meiosis specific with OB domains ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:25,023,275...25,058,762
Ensembl chr17:25,023,263...25,058,762 		JBrowse link
G Metrn meteorin, glial cell differentiation regulator ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,013,545...26,016,019
Ensembl chr17:26,012,195...26,016,057 		JBrowse link
G Mettl26 methyltransferase like 26 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,094,474...26,096,137
Ensembl chr17:26,094,048...26,096,143 		JBrowse link
G Mgrn1 mahogunin, ring finger 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,703,964...4,756,160
Ensembl chr16:4,704,113...4,756,160 		JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,692,524...24,698,722
Ensembl chr17:24,692,525...24,698,052 		JBrowse link
G Mmp25 matrix metallopeptidase 25 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,847,289...23,864,006
Ensembl chr17:23,847,285...23,864,251 		JBrowse link
G Mrpl28 mitochondrial ribosomal protein L28 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,342,477...26,345,587
Ensembl chr17:26,342,474...26,345,587 		JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:25,114,094...25,115,263
Ensembl chr17:25,114,090...25,116,476 		JBrowse link
G Msln mesothelin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,967,587...25,973,352
Ensembl chr17:25,967,587...25,973,352 		JBrowse link
G Msrb1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,955,567...24,961,752
Ensembl chr17:24,955,616...24,961,752 		JBrowse link
G Naa60 N(alpha)-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,690,365...3,722,645
Ensembl chr16:3,690,239...3,722,634 		JBrowse link
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,941,034...24,943,397
Ensembl chr17:24,941,034...24,943,452 		JBrowse link
G Nherf2 NHERF family PDZ scaffold protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,858,255...24,869,279
Ensembl chr17:24,858,260...24,869,301 		JBrowse link
G Nhlrc4 NHL repeat containing 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,161,207...26,163,905
Ensembl chr17:26,161,207...26,163,935 		JBrowse link
G Nlrc3 NLR family, CARD domain containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,762,871...3,796,881
Ensembl chr16:3,762,871...3,794,496 		JBrowse link
G Nme3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:25,115,474...25,116,505
Ensembl chr17:25,115,474...25,116,496 		JBrowse link
G Nme4 NME/NM23 nucleoside diphosphate kinase 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,310,708...26,314,650
Ensembl chr17:26,310,708...26,314,576 		JBrowse link
G Nmral1 NmrA-like family domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,529,181...4,537,220
Ensembl chr16:4,527,923...4,537,220 		JBrowse link
G Noxo1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,915,208...24,919,504
Ensembl chr17:24,915,208...24,919,503 		JBrowse link
G Npw neuropeptide W ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,876,303...24,877,526
Ensembl chr17:24,876,304...24,877,431 		JBrowse link
G Nthl1 nth (endonuclease III)-like 1 (E.coli) ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,851,656...24,857,812
Ensembl chr17:24,851,654...24,857,811 		JBrowse link
G Ntn3 netrin 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,422,805...24,428,361
Ensembl chr17:24,422,822...24,428,505 		JBrowse link
G Nubp2 nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:25,101,585...25,105,423
Ensembl chr17:25,101,585...25,105,323 		JBrowse link
G Nudt16l1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,756,975...4,758,892
Ensembl chr16:4,756,625...4,758,896 		JBrowse link
G Or1f19 olfactory receptor family 1 subfamily F member 19 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,410,262...3,411,203
Ensembl chr16:3,408,906...3,417,187 		JBrowse link
G Or2c1 olfactory receptor family 2 subfamily C member 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,656,839...3,657,777
Ensembl chr16:3,648,742...3,662,611 		JBrowse link
G Pam16 presequence translocase-asssociated motor 16 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,434,330...4,442,810
Ensembl chr16:4,434,328...4,442,852 		JBrowse link
G Paqr4 progestin and adipoQ receptor family member IV ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,955,160...23,959,873
Ensembl chr17:23,955,160...23,959,841 		JBrowse link
G Pdia2 protein disulfide isomerase associated 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,414,973...26,418,108
Ensembl chr17:26,414,973...26,418,061 		JBrowse link
G Pdpk1 3-phosphoinositide dependent protein kinase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,292,654...24,370,957
Ensembl chr17:24,292,654...24,369,898 		JBrowse link
G Pgap6 post-glycosylphosphatidylinositol attachment to proteins 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,332,290...26,342,228
Ensembl chr17:26,332,273...26,342,228 		JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,689,400...24,692,084
Ensembl chr17:24,689,366...24,692,084 		JBrowse link
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,145,398...26,161,855
Ensembl chr17:26,145,395...26,163,910 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,767,657...24,815,457
Ensembl chr17:24,768,808...24,815,482 		JBrowse link
G Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,945,385...23,955,709
Ensembl chr17:23,945,310...23,955,709 		JBrowse link
G Prr35 proline rich 35 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,165,353...26,171,539
Ensembl chr17:26,165,361...26,171,539 		JBrowse link
G Prss21 serine protease 21 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,087,046...24,092,087
Ensembl chr17:24,087,030...24,092,088 		JBrowse link
G Prss22 serine protease 22 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,212,508...24,219,696
Ensembl chr17:24,212,508...24,217,074 		JBrowse link
G Prss27 serine protease 27 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,257,217...24,264,923
Ensembl chr17:24,257,118...24,264,928 		JBrowse link
G Prss33 serine protease 33 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,052,312...24,055,667
Ensembl chr17:24,052,321...24,055,030 		JBrowse link
G Prss41 serine protease 41 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,055,759...24,063,190
Ensembl chr17:24,055,759...24,063,146 		JBrowse link
G Ptx4 pentraxin 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,339,328...25,344,256
Ensembl chr17:25,339,734...25,344,266 		JBrowse link
G Rab11fip3 RAB11 family interacting protein 3 (class II) ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,208,010...26,289,010
Ensembl chr17:26,208,010...26,288,529 		JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,748,038...24,752,696
Ensembl chr17:24,746,215...24,753,184 		JBrowse link
G Rab40c Rab40C, member RAS oncogene family ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,101,088...26,138,688
Ensembl chr17:26,101,088...26,138,701 		JBrowse link
G Rgs11 regulator of G-protein signaling 11 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,421,500...26,430,295
Ensembl chr17:26,421,925...26,430,298 		JBrowse link
G Rhbdl1 rhomboid like 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,053,439...26,056,101
Ensembl chr17:26,053,439...26,056,269 		JBrowse link
G Rhot2 ras homolog family member T2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,057,431...26,063,499
Ensembl chr17:26,057,431...26,063,825 		JBrowse link
G Rnf151 ring finger protein 151 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,934,813...24,937,031
Ensembl chr17:24,934,813...24,937,037 		JBrowse link
G Rnps1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,633,620...24,644,872
Ensembl chr17:24,633,539...24,644,875 		JBrowse link
G Rogdi rogdi homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,826,593...4,831,438
Ensembl chr16:4,826,594...4,831,417 		JBrowse link
G Rpl3l ribosomal protein L3-like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,946,800...24,955,117
Ensembl chr17:24,946,794...24,955,117 		JBrowse link
G Rps2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,939,037...24,940,901
Ensembl chr17:24,937,090...24,940,903 		JBrowse link
G Rpusd1 RNA pseudouridylate synthase domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,943,758...25,950,438
Ensembl chr17:25,946,644...25,950,438 		JBrowse link
G Sbpl spermine binding protein-like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,172,059...24,174,247
Ensembl chr17:24,172,058...24,174,248 		JBrowse link
G Septin12 septin 12 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,804,722...4,815,716
Ensembl chr16:4,804,722...4,815,716 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,796,969...3,821,708
Ensembl chr16:3,796,969...3,821,634 		JBrowse link
G Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,825,152...4,826,173
Ensembl chr16:4,825,152...4,826,173 		JBrowse link
G Snhg9 small nucleolar RNA host gene 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,938,505...24,938,939
Ensembl chr17:24,938,496...24,938,961 		JBrowse link
G Sox8 SRY (sex determining region Y)-box 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,784,865...25,789,666
Ensembl chr17:25,784,634...25,789,726 		JBrowse link
G Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:25,104,956...25,111,124
Ensembl chr17:25,105,617...25,111,126 		JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,294,843...4,359,772
Ensembl chr16:4,298,080...4,359,680 		JBrowse link
G Srrm2 serine/arginine repetitive matrix 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,009,501...24,043,715
Ensembl chr17:24,009,506...24,043,715 		JBrowse link
G Sstr5 somatostatin receptor 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,708,849...25,716,262
Ensembl chr17:25,708,847...25,733,577 		JBrowse link
G Stub1 STIP1 homology and U-Box containing protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,049,608...26,051,893
Ensembl chr17:26,049,479...26,052,378 		JBrowse link
G Syngr3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,904,066...24,908,923
Ensembl chr17:24,904,066...24,908,929 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536 		JBrowse link
G Tbl3 transducin (beta)-like 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,919,627...24,926,627
Ensembl chr17:24,916,923...24,926,634 		JBrowse link
G Tedc2 tubulin epsilon and delta complex 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,434,028...24,439,825
Ensembl chr17:24,434,028...24,439,825 		JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,318,543...25,334,951
Ensembl chr17:25,318,544...25,334,941 		JBrowse link
G Tfap4 transcription factor AP4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,362,525...4,378,625
Ensembl chr16:4,362,525...4,377,718 		JBrowse link
G Thoc6 THO complex 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,887,592...23,892,891
Ensembl chr17:23,887,588...23,892,856 		JBrowse link
G Tmem204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,276,676...25,300,088
Ensembl chr17:25,276,676...25,302,565 		JBrowse link
G Tnfrsf12a tumor necrosis factor receptor superfamily, member 12a ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,894,419...23,896,423
Ensembl chr17:23,894,419...23,896,442 		JBrowse link
G Tpsab1 tryptase alpha/beta 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,562,219...25,564,536
Ensembl chr17:25,562,212...25,564,541 		JBrowse link
G Tpsb2 tryptase beta 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,585,282...25,587,070
Ensembl chr17:25,585,170...25,588,079 		JBrowse link
G Tpsg1 tryptase gamma 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,588,169...25,593,416
Ensembl chr17:25,588,235...25,593,417 		JBrowse link
G Traf7 TNF receptor-associated factor 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,727,824...24,746,912
Ensembl chr17:24,727,536...24,746,912 		JBrowse link
G Trap1 TNF receptor-associated protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,857,835...3,895,704
Ensembl chr16:3,857,835...3,895,691 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604 		JBrowse link
G Tsr3 TSR3 20S rRNA accumulation ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,459,120...25,461,773
Ensembl chr17:25,459,141...25,461,773 		JBrowse link
G Ubald1 UBA-like domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,692,641...4,698,190
Ensembl chr16:4,692,642...4,698,179 		JBrowse link
G Ube2i ubiquitin-conjugating enzyme E2I ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,479,484...25,494,965
Ensembl chr17:25,479,482...25,493,856 		JBrowse link
G Unkl unkempt family like zinc finger ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,407,336...25,453,417
Ensembl chr17:25,407,371...25,453,417 		JBrowse link
G Uqcc4 ubiquinol-cytochrome c reductase complex assembly factor 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,403,535...25,406,636
Ensembl chr17:25,403,528...25,406,636 		JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,457,809...4,469,030
Ensembl chr16:4,457,805...4,468,666 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:25741868 PMID:33002628 PMID:33532864 NCBI chr 5:65,357,039...65,417,758
Ensembl chr 5:65,357,039...65,417,758 		JBrowse link
G Wdr24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,042,601...26,047,704
Ensembl chr17:26,042,601...26,047,704 		JBrowse link
G Wdr90 WD repeat domain 90 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,063,708...26,080,489
Ensembl chr17:26,063,745...26,080,475 		JBrowse link
G Wfikkn1 WAP, FS, Ig, KU, and NTR-containing protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,096,602...26,099,832
Ensembl chr17:26,096,602...26,099,832 		JBrowse link
G Zfp13 zinc finger protein 13 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,788,820...23,818,729
Ensembl chr17:23,794,818...23,818,461 		JBrowse link
G Zfp174 zinc finger protein 174 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,665,105...3,691,751
Ensembl chr16:3,665,132...3,676,744 		JBrowse link
G Zfp213 zinc finger protein 213 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,775,741...23,783,200
Ensembl chr17:23,775,741...23,783,212 		JBrowse link
G Zfp263 zinc finger protein 263 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,561,883...3,568,654
Ensembl chr16:3,561,957...3,568,654 		JBrowse link
G Zfp597 zinc finger protein 597 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,679,408...3,702,241
Ensembl chr16:3,676,185...3,702,425 		JBrowse link
G Zfp598 zinc finger protein 598 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,888,661...24,900,997
Ensembl chr17:24,888,661...24,900,990 		JBrowse link
G Zscan10 zinc finger and SCAN domain containing 10 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,819,800...23,829,993
Ensembl chr17:23,819,830...23,829,993 		JBrowse link
Spinocerebellar Ataxia 27A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 27A
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12489043 PMID:15470364 PMID:17978045 PMID:25566820 PMID:25741868 More... NCBI chr14:124,211,257...124,915,098
Ensembl chr14:124,215,319...124,914,539 		JBrowse link
Spinocerebellar Ataxia 27B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf14 fibroblast growth factor 14 ISO OMIM NCBI chr14:124,211,257...124,915,098
Ensembl chr14:124,215,319...124,914,539 		JBrowse link
Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1g calcium channel, voltage-dependent, T type, alpha 1G subunit ISO ClinVar Annotator: match by term: CACNA1G-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29878067 PMID:30792901 PMID:31217264 More... NCBI chr11:94,299,217...94,365,226
Ensembl chr11:94,299,217...94,365,024 		JBrowse link
spinocerebellar ataxia 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grm1 glutamate receptor, metabotropic 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 44 OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28886343 NCBI chr10:10,561,803...10,958,126
Ensembl chr10:10,561,803...10,958,100 		JBrowse link
spinocerebellar ataxia 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 45 ClinVar PMID:25741868 NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878 		JBrowse link
G Fat2 FAT atypical cadherin 2 ISO ClinVar Annotator: match by term: FAT2-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 45 OMIM
ClinVar		 PMID:20301317 PMID:25741868 PMID:28492532 PMID:29053796 PMID:29847346 NCBI chr11:55,141,435...55,228,331
Ensembl chr11:55,141,435...55,227,390 		JBrowse link
G Slc36a1 solute carrier family 36 (proton/amino acid symporter), member 1 ISO ClinVar Annotator: match by term: FAT2-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 45 ClinVar PMID:20301317 PMID:25741868 PMID:28492532 PMID:29053796 PMID:29847346 NCBI chr11:55,095,148...55,127,156
Ensembl chr11:55,095,176...55,127,156 		JBrowse link
spinocerebellar ataxia 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pld3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 46 OMIM
ClinVar		 PMID:8595484 PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 More... NCBI chr 7:27,231,090...27,252,511
Ensembl chr 7:27,231,425...27,252,643 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 46 ClinVar PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:24011642 More... NCBI chr 7:27,198,730...27,219,466
Ensembl chr 7:27,196,813...27,219,639 		JBrowse link
Spinocerebellar Ataxia 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd9l sterile alpha motif domain containing 9-like ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 49 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29146900 PMID:35310830 NCBI chr 6:3,372,257...3,399,458
Ensembl chr 6:3,372,257...3,399,572 		JBrowse link
Spinocerebellar Ataxia 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nptx1 neuronal pentraxin 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 50 OMIM
ClinVar		 PMID:25741868 PMID:34788392 PMID:35285082 PMID:35288776 PMID:35560436 NCBI chr11:119,429,545...119,438,646
Ensembl chr11:119,429,545...119,438,579 		JBrowse link
spinocerebellar ataxia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn1 ataxin 1 ISO
IAGP		 OMIM:164400
ClinVar Annotator: match by term: SPINOCEREBELLAR ATROPHY I | ClinVar Annotator: match by term: Spinocerebellar ataxia type 1		 OMIM
MouseDO
ClinVar		 PMID:25741868 NCBI chr13:45,703,231...46,118,467
Ensembl chr13:45,703,231...46,118,484 		JBrowse link
spinocerebellar ataxia type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn10 ataxin 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar ataxia type 10		 OMIM
CTD
ClinVar		 PMID:25741868 NCBI chr15:85,220,456...85,348,038
Ensembl chr15:85,220,446...85,347,413 		JBrowse link
spinocerebellar ataxia type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttbk2 tau tubulin kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar ataxia type 11 | ClinVar Annotator: match by term: TTBK2-related condition		 OMIM
CTD
ClinVar		 PMID:18037885 PMID:19533200 PMID:20301723 PMID:22073189 PMID:24808823 More... NCBI chr 2:120,563,297...120,681,111
Ensembl chr 2:120,563,297...120,681,085 		JBrowse link
spinocerebellar ataxia type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp2r2b protein phosphatase 2, regulatory subunit B, beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PPP2R2B-Related Disorder | ClinVar Annotator: match by term: Spinocerebellar ataxia type 12		 OMIM
CTD
ClinVar		 PMID:25741868 NCBI chr18:42,777,811...43,192,827
Ensembl chr18:42,770,497...43,216,192 		JBrowse link
spinocerebellar ataxia type 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnc3 potassium voltage gated channel, Shaw-related subfamily, member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar ataxia type 13		 OMIM
CTD
ClinVar		 PMID:10820125 PMID:16135769 PMID:16501573 PMID:18592334 PMID:19953606 More... NCBI chr 7:44,236,405...44,254,175
Ensembl chr 7:44,240,088...44,254,178 		JBrowse link
spinocerebellar ataxia type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkcg protein kinase C, gamma ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar ataxia type 14
OMIM:605361		 OMIM
CTD
ClinVar
MouseDO		 PMID:9545390 PMID:12164726 PMID:12644968 PMID:14676051 PMID:14694043 More... NCBI chr 7:3,352,038...3,379,615
Ensembl chr 7:3,337,704...3,379,615 		JBrowse link
spinocerebellar ataxia type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itpr1 inositol 1,4,5-trisphosphate receptor 1 ISO DNA:deletions:multiple (human)
ClinVar Annotator: match by term: Spinocerebellar Ataxia Type 15 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16
CTD Direct Evidence: marker/mechanism
DNA:deletions:exons, introns:g.4498593_4736400del, 4409618_4851975del (human)		 ClinVar
CTD
OMIM
RGD		 PMID:10664581 PMID:12824425 PMID:14981189 PMID:17932120 PMID:18579805 More... RGD:6480683, RGD:6480871 NCBI chr 6:108,190,044...108,528,077
Ensembl chr 6:108,190,057...108,528,070 		JBrowse link
G Rubcn RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16 ClinVar PMID:25741868 NCBI chr16:32,642,072...32,698,121
Ensembl chr16:32,642,073...32,698,136 		JBrowse link
G Setmar SET domain without mariner transposase fusion ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16 ClinVar PMID:17932120 PMID:20669319 PMID:21681106 NCBI chr 6:108,042,006...108,054,088
Ensembl chr 6:108,042,006...108,054,083 		JBrowse link
spinocerebellar ataxia type 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5f1b ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr10:127,919,176...127,926,257
Ensembl chr10:127,919,142...127,926,260 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
G Hspa5 heat shock protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 2:34,662,102...34,666,541
Ensembl chr 2:34,661,982...34,667,559 		JBrowse link
G Hspa8 heat shock protein 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 9:40,712,572...40,716,498
Ensembl chr 9:40,712,280...40,721,383 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 9:44,290,840...44,303,662
Ensembl chr 9:44,290,787...44,303,666 		JBrowse link
G Nqo1 NAD(P)H dehydrogenase, quinone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838 		JBrowse link
G P4hb prolyl 4-hydroxylase, beta polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr11:120,451,124...120,464,079
Ensembl chr11:120,451,124...120,464,079 		JBrowse link
G Pdia3 protein disulfide isomerase associated 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 2:121,244,383...121,269,168
Ensembl chr 2:121,244,256...121,269,168 		JBrowse link
G Tbp TATA box binding protein ISO
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:607136
ClinVar Annotator: match by term: Spinocerebellar ataxia type 17		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:25741868 PMID:23699518 RGD:9681730 NCBI chr17:15,720,150...15,737,689
Ensembl chr17:15,720,150...15,748,641 		JBrowse link
spinocerebellar ataxia type 19/22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eef2 eukaryotic translation elongation factor 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 ClinVar PMID:25741868 NCBI chr10:81,012,465...81,018,343
Ensembl chr10:81,012,465...81,018,332 		JBrowse link
G Kcnd3 potassium voltage-gated channel, Shal-related family, member 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11284128 PMID:17576681 PMID:17581856 PMID:21349352 More... NCBI chr 3:105,359,206...105,581,318
Ensembl chr 3:105,359,646...105,581,318 		JBrowse link
G Lama4 laminin, alpha 4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:38,841,511...38,986,184
Ensembl chr10:38,841,511...38,986,184 		JBrowse link
spinocerebellar ataxia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn2 ataxin 2 susceptibility IAGP
ISO		 OMIM:183090
ClinVar Annotator: match by term: Spinocerebellar ataxia type 2		 MouseDO
OMIM
ClinVar		 PMID:25741868 NCBI chr 5:121,849,794...121,954,372
Ensembl chr 5:121,849,400...121,954,556 		JBrowse link
spinocerebellar ataxia type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem240 transmembrane protein 240 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar ataxia type 21		 OMIM
CTD
ClinVar		 PMID:11160961 PMID:25070513 PMID:25741868 PMID:28492532 PMID:30522958 More... NCBI chr 4:155,818,336...155,825,025
Ensembl chr 4:155,819,261...155,825,021 		JBrowse link
spinocerebellar ataxia type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdyn prodynorphin ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 23
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21035104 PMID:22243190 PMID:22287014 PMID:23108490 PMID:23355175 More... NCBI chr 2:129,528,469...129,541,858
Ensembl chr 2:129,528,485...129,541,764 		JBrowse link
spinocerebellar ataxia type 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 25
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11080643 PMID:14705117 PMID:24088041 PMID:25326635 PMID:25457163 More... NCBI chr11:29,080,236...29,112,010
Ensembl chr11:29,080,744...29,111,828 		JBrowse link
spinocerebellar ataxia type 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eef2 eukaryotic translation elongation factor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar ataxia type 26		 OMIM
CTD
ClinVar		 PMID:15732118 PMID:23001565 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr10:81,012,465...81,018,343
Ensembl chr10:81,012,465...81,018,332 		JBrowse link
spinocerebellar ataxia type 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf14 fibroblast growth factor 14 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar ataxia type 27
OMIM:609307		 CTD
ClinVar
MouseDO		 PMID:5470364 PMID:12489043 PMID:15470364 PMID:21681106 PMID:25741868 More... NCBI chr14:124,211,257...124,915,098
Ensembl chr14:124,215,319...124,914,539 		JBrowse link
G Itgbl1 integrin, beta-like 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 ClinVar PMID:25741868 NCBI chr14:123,897,331...124,215,173
Ensembl chr14:123,897,383...124,213,030 		JBrowse link
spinocerebellar ataxia type 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3-like AAA ATPase 2 ISO
IAGP
IMP		 ClinVar Annotator: match by term: Spinocerebellar ataxia type 28
CTD Direct Evidence: marker/mechanism
OMIM:610246
DNA:deletion
DNA:missense mutation:exon:p.P688T (c.2062C>A) (human)
DNA:missense mutation:exon:p.E700K (c.2098G>A) (human)
DNA:missense mutations: :multiple
DNA:missense mutations:exon:p.M666V (c.1996A>G), p.G671R (c.2011G>A) (human)		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:16251216 PMID:20208537 PMID:20354562 PMID:20725928 PMID:23777634 More... RGD:11534993, RGD:11532678, RGD:11532675, RGD:11532674, RGD:11532673, RGD:11532671 NCBI chr18:67,537,830...67,582,277
Ensembl chr18:67,537,834...67,582,242 		JBrowse link
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 28 ClinVar PMID:25741868 PMID:26467025 PMID:27165006 PMID:28492532 NCBI chr18:67,523,801...67,535,819
Ensembl chr18:67,523,787...67,535,819 		JBrowse link
spinocerebellar ataxia type 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itpr1 inositol 1,4,5-trisphosphate receptor 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 29
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10664581 PMID:12824425 PMID:15623688 PMID:22986007 PMID:23315928 More... NCBI chr 6:108,190,044...108,528,077
Ensembl chr 6:108,190,057...108,528,070 		JBrowse link
spinocerebellar ataxia type 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bean1 brain expressed, associated with Nedd4, 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 31
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:19878914 NCBI chr 8:104,897,110...104,945,730
Ensembl chr 8:104,897,074...104,945,754 		JBrowse link
G Plekhg4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 31 ClinVar PMID:16001362 PMID:16614795 PMID:16780885 NCBI chr 8:106,096,272...106,109,492
Ensembl chr 8:106,099,906...106,109,494 		JBrowse link
spinocerebellar ataxia type 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 34 OMIM
ClinVar		 PMID:5048218 PMID:24566826 PMID:25741868 PMID:26010696 PMID:28492532 More... NCBI chr 9:83,660,745...83,688,358
Ensembl chr 9:83,660,745...83,688,330 		JBrowse link
spinocerebellar ataxia type 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 35 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21106500 PMID:21907015 PMID:22287014 More... NCBI chr 2:129,954,336...129,996,153
Ensembl chr 2:129,954,336...129,996,152 		JBrowse link
spinocerebellar ataxia type 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nop56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 36 OMIM
ClinVar		 PMID:25741868 NCBI chr 2:130,112,904...130,121,233
Ensembl chr 2:130,116,350...130,121,233 		JBrowse link
spinocerebellar ataxia type 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dab1 disabled 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 37 OMIM
ClinVar		 PMID:23700170 PMID:25741868 PMID:28686858 PMID:29939198 NCBI chr 4:103,476,425...104,602,041
Ensembl chr 4:103,476,556...104,602,041 		JBrowse link
spinocerebellar ataxia type 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elovl5 ELOVL fatty acid elongase 5 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 38 OMIM
ClinVar		 PMID:25065913 PMID:25741868 PMID:28492532 PMID:31294938 NCBI chr 9:77,824,647...77,891,801
Ensembl chr 9:77,824,646...77,891,801 		JBrowse link
spinocerebellar ataxia type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfhx3 zinc finger homeobox 3 ISO OMIM NCBI chr 8:109,005,975...109,688,272
Ensembl chr 8:108,669,276...109,688,262 		JBrowse link
spinocerebellar ataxia type 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 40 OMIM
ClinVar		 PMID:18414213 PMID:25062847 PMID:25741868 PMID:28492532 NCBI chr12:100,877,778...100,995,610
Ensembl chr12:100,877,782...100,995,315 		JBrowse link
spinocerebellar ataxia type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO
IAGP		 ClinVar Annotator: match by term: Spinocerebellar ataxia type 5
OMIM:600224		 OMIM
ClinVar
MouseDO		 PMID:16429157 PMID:20368622 PMID:20603325 PMID:22843192 PMID:22914369 More... NCBI chr19:4,761,236...4,804,006
Ensembl chr19:4,761,195...4,802,388 		JBrowse link
spinocerebellar ataxia type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ISO
IAGP		 ClinVar Annotator: match by term: Spinocerebellar ataxia type 6
OMIM:183086		 OMIM
ClinVar
MouseDO		 PMID:8898206 PMID:9329229 PMID:9345107 PMID:10371528 PMID:10408534 More... NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875 		JBrowse link
spinocerebellar ataxia type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn7 ataxin 7 ISO
IAGP		 ClinVar Annotator: match by term: Spinocerebellar ataxia 7
OMIM:164500		 OMIM
ClinVar
MouseDO		 PMID:25741868 NCBI chr14:8,358,358...8,508,324
Ensembl chr14:8,362,461...8,508,323 		JBrowse link
spinocerebellar ataxia with axonal neuropathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
OMIM:607250		 OMIM
CTD
ClinVar
MouseDO		 PMID:12244316 PMID:12470949 PMID:15111055 PMID:15920477 PMID:17948061 More... NCBI chr12:99,850,767...99,921,482
Ensembl chr12:99,850,776...99,921,478 		JBrowse link
spinocerebellar ataxia with axonal neuropathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ClinVar PMID:24033266 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chr 4:40,682,078...40,703,206
Ensembl chr 4:40,682,382...40,703,194 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: SETX-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9467005 PMID:9497266 PMID:9536098 PMID:14770181 PMID:15106121 More... NCBI chr 2:29,013,600...29,072,483
Ensembl chr 2:29,014,193...29,072,483 		JBrowse link
spinocerebellar ataxia with axonal neuropathy type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa7 cytochrome c oxidase assembly factor 7 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM
ClinVar		 PMID:25741868 PMID:27683825 PMID:28492532 PMID:29718187 PMID:30885959 NCBI chr 4:108,185,349...108,197,915
Ensembl chr 4:108,185,337...108,198,741 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    disease of anatomical entity 15680
      nervous system disease 13560
        neurodegenerative disease 4821
          hereditary ataxia 660
            cerebellar ataxia 494
              3-methylglutaconic aciduria type 5 3
              Benign Cerebellar Ataxia with Thermoanalgesia 0
              Brachydactyly-Nystagmus-Cerebellar Ataxia 0
              Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia 0
              CAPOS Syndrome 1
              CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 3
              CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS 1
              CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA 1
              Cerebellar Ataxia and Ectodermal Dysplasia 0
              Cerebellar Ataxia and Hypergonadotropic Hypogonadism 0
              Cerebellar Ataxia and Neurosensory Deafness 0
              Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 2
              Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus 3
              Furukawa Takagi Nakao Syndrome 0
              Gillespie syndrome 2
              Gordon Holmes syndrome 2
              Harding Ataxia 0
              Herrmann Syndrome 0
              ITM2B-related cerebral amyloid angiopathy 2 1
              Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy 0
              Myelocerebellar Disorder 1
              Myoclonus, Cerebellar Ataxia, and Deafness 0
              NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE 1
              Neuhauser Eichner Opitz Syndrome 0
              Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA 0
              autosomal dominant cerebellar ataxia + 88
              autosomal recessive cerebellar ataxia + 164
              cerebellofaciodental syndrome 1
              episodic ataxia type 5 1
              episodic ataxia type 6 1
              familial hemiplegic migraine 1 2
              hypomyelinating leukodystrophy 8 3
              short-rib thoracic dysplasia 9 with or without polydactyly 162
Path 2
Term Annotations click to browse term
  disease 16121
    disease of anatomical entity 15680
      nervous system disease 13560
        central nervous system disease 12117
          brain disease 11377
            movement disease 2565
              Dyskinesias 2183
                Ataxia 963
                  hereditary ataxia 660
                    cerebellar ataxia 494
                      3-methylglutaconic aciduria type 5 3
                      Benign Cerebellar Ataxia with Thermoanalgesia 0
                      Brachydactyly-Nystagmus-Cerebellar Ataxia 0
                      Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia 0
                      CAPOS Syndrome 1
                      CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 3
                      CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS 1
                      CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA 1
                      Cerebellar Ataxia and Ectodermal Dysplasia 0
                      Cerebellar Ataxia and Hypergonadotropic Hypogonadism 0
                      Cerebellar Ataxia and Neurosensory Deafness 0
                      Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 2
                      Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus 3
                      Furukawa Takagi Nakao Syndrome 0
                      Gillespie syndrome 2
                      Gordon Holmes syndrome 2
                      Harding Ataxia 0
                      Herrmann Syndrome 0
                      ITM2B-related cerebral amyloid angiopathy 2 1
                      Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy 0
                      Myelocerebellar Disorder 1
                      Myoclonus, Cerebellar Ataxia, and Deafness 0
                      NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE 1
                      Neuhauser Eichner Opitz Syndrome 0
                      Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA 0
                      autosomal dominant cerebellar ataxia + 88
                      autosomal recessive cerebellar ataxia + 164
                      cerebellofaciodental syndrome 1
                      episodic ataxia type 5 1
                      episodic ataxia type 6 1
                      familial hemiplegic migraine 1 2
                      hypomyelinating leukodystrophy 8 3
                      short-rib thoracic dysplasia 9 with or without polydactyly 162
paths to the root