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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:axonal neuropathy
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Accession:DOID:7319 term browser browse the term
Synonyms:narrow_synonym: MOTOR AXONAL NEUROPATHY;   SENSORY AXONAL NEUROPATHY
 related_synonym: PERIPHERAL AXONAL NEUROPATHY
 primary_id: RDO:9002728
 xref: NCI:C27301
For additional species annotation, visit the Alliance of Genome Resources.

Please select species to view GViewer data.
show annotations for term's descendants           Sort by:
 
axonal neuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004624899:74,080...170,565 JBrowse link
G V ALS2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:87,389,130...87,473,134 JBrowse link
G P ALS2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:105,328,717...105,401,152
Ensembl chr15:105,328,718...105,401,108 		JBrowse link
G S Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936726:940,696...1,015,771 JBrowse link
G D ALS2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr37:10,755,595...10,825,073
Ensembl chr37:10,756,515...10,812,292 		JBrowse link
G B ALS2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr2B:88,954,167...89,034,764
Ensembl chr2B:207,108,952...207,189,623 		JBrowse link
G C Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955403:22,449...104,577
Ensembl chrNW_004955403:22,449...104,948 		JBrowse link
G R Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871 		JBrowse link
G M Als2 alsin Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:59,162,756...59,237,231
Ensembl chr 1:59,162,926...59,237,231 		JBrowse link
G H ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:201,700,267...201,781,153
Ensembl chr 2:201,700,267...201,780,956
Ensembl chr 2:201,700,267...201,780,956 		JBrowse link
G M Arhgef10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chrNW_004624861:992,824...1,083,048 JBrowse link
G V ARHGEF10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr 8:1,487,076...1,620,387
Ensembl chr 8:1,502,226...1,620,389 		JBrowse link
G P ARHGEF10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr15:33,370,093...33,465,852 JBrowse link
G S Arhgef10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chrNW_004936615:1,012,009...1,103,468 JBrowse link
G D ARHGEF10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr16:54,293,534...54,378,706
Ensembl chr16:54,293,435...54,347,555 		JBrowse link
G B ARHGEF10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr 8:5,381,357...5,541,094
Ensembl chr 8:1,724,413...1,862,917 		JBrowse link
G C Arhgef10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chrNW_004955403:57,820,003...57,907,324
Ensembl chrNW_004955403:57,818,837...57,907,324 		JBrowse link
G R Arhgef10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr16:79,725,629...79,817,065
Ensembl chr16:79,725,643...79,793,619 		JBrowse link
G M Arhgef10 Rho guanine nucleotide exchange factor (GEF) 10 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr 8:14,906,412...15,001,085
Ensembl chr 8:14,911,663...15,001,085 		JBrowse link
G H ARHGEF10 Rho guanine nucleotide exchange factor 10 IAGP ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr 8:1,823,926...1,958,641
Ensembl chr 8:1,823,926...1,958,641 		JBrowse link
G M Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:19085932 PMID:20605452 PMID:21361913 PMID:22734908 PMID:25208129 PMID:25728519 PMID:25741868 PMID:26545904 PMID:27164712 PMID:27443559 PMID:28492532 PMID:28754666 PMID:30559338 NCBI chrNW_004624737:27,171,402...27,195,008 JBrowse link
G V BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:19085932 PMID:20605452 PMID:21361913 PMID:22734908 PMID:25208129 PMID:25728519 PMID:25741868 PMID:26545904 PMID:27164712 PMID:27443559 PMID:28492532 PMID:28754666 PMID:30559338 NCBI chr 9:112,439,954...112,465,875
Ensembl chr 9:112,439,782...112,466,086 		JBrowse link
G P BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:19085932 PMID:20605452 PMID:21361913 PMID:22734908 PMID:25208129 PMID:25728519 PMID:25741868 PMID:26545904 PMID:27164712 PMID:27443559 PMID:28492532 PMID:28754666 PMID:30559338 NCBI chr14:129,510,240...129,533,998
Ensembl chr14:129,510,293...129,533,996 		JBrowse link
G S Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:19085932 PMID:20605452 PMID:21361913 PMID:22734908 PMID:25208129 PMID:25728519 PMID:25741868 PMID:26545904 PMID:27164712 PMID:27443559 PMID:28492532 PMID:28754666 PMID:30559338 NCBI chrNW_004936486:8,985,871...9,007,461 JBrowse link
G D BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:19085932 PMID:20605452 PMID:21361913 PMID:22734908 PMID:25208129 PMID:25728519 PMID:25741868 PMID:26545904 PMID:27164712 PMID:27443559 PMID:28492532 PMID:28754666 PMID:30559338 NCBI chr28:29,792,612...29,815,466
Ensembl chr28:29,792,777...29,815,138 		JBrowse link
G B BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:19085932 PMID:20605452 PMID:21361913 PMID:22734908 PMID:25208129 PMID:25728519 PMID:25741868 PMID:26545904 PMID:27164712 PMID:27443559 PMID:28492532 PMID:28754666 PMID:30559338 NCBI chr10:116,221,747...116,248,692
Ensembl chr10:119,643,963...119,665,964 		JBrowse link
G C Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:19085932 PMID:20605452 PMID:21361913 PMID:22734908 PMID:25208129 PMID:25728519 PMID:25741868 PMID:26545904 PMID:27164712 PMID:27443559 PMID:28492532 PMID:28754666 PMID:30559338 NCBI chrNW_004955551:446,322...468,329
Ensembl chrNW_004955551:446,605...469,207 		JBrowse link
G R Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:19085932 PMID:20605452 PMID:21361913 PMID:22734908 PMID:25208129 PMID:25728519 PMID:25741868 PMID:26545904 PMID:27164712 PMID:27443559 PMID:28492532 PMID:28754666 PMID:30559338 NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191 		JBrowse link
G M Bag3 BCL2-associated athanogene 3 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:19085932 PMID:20605452 PMID:21361913 PMID:22734908 PMID:25208129 PMID:25728519 PMID:25741868 PMID:26545904 PMID:27164712 PMID:27443559 PMID:28492532 PMID:28754666 PMID:30559338 NCBI chr 7:128,523,583...128,546,981
Ensembl chr 7:128,523,616...128,546,981 		JBrowse link
G H BAG3 BAG cochaperone 3 IAGP ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:19085932 PMID:20605452 PMID:21361913 PMID:22734908 PMID:25208129 PMID:25728519 PMID:25741868 PMID:26545904 PMID:27164712 PMID:27443559 PMID:28492532 PMID:28754666 PMID:30559338 NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,370...119,677,819
Ensembl chr10:119,651,370...119,677,819 		JBrowse link
G M Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chrNW_004624734:10,768,920...10,840,740 JBrowse link
G V FBLN5 fibulin 5 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr24:69,626,498...69,703,146
Ensembl chr24:69,626,339...69,703,108 		JBrowse link
G P FBLN5 fibulin 5 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr 7:113,423,629...113,526,412
Ensembl chr 7:113,423,629...113,522,069 		JBrowse link
G S Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chrNW_004936733:136,374...200,106 JBrowse link
G D FBLN5 fibulin 5 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr 8:1,162,203...1,231,809
Ensembl chr 8:1,162,923...1,231,719 		JBrowse link
G B FBLN5 fibulin 5 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr14:72,504,240...72,583,160
Ensembl chr14:91,848,430...91,927,304 		JBrowse link
G C Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chrNW_004955438:14,073,927...14,144,644
Ensembl chrNW_004955438:14,071,410...14,145,070 		JBrowse link
G R Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944 		JBrowse link
G M Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr12:101,746,565...101,819,119
Ensembl chr12:101,746,565...101,819,055 		JBrowse link
G H FBLN5 fibulin 5 IAGP ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,412...91,947,987
Ensembl chr14:91,869,412...91,947,987 		JBrowse link
G R Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044 		JBrowse link
G M Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr 6:55,038,001...55,079,504
Ensembl chr 6:55,038,007...55,079,500 		JBrowse link
G M Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chrNW_004624739:172,111...211,229 JBrowse link
G V GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr21:27,750,532...27,791,143
Ensembl chr21:27,749,514...27,790,881 		JBrowse link
G P GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162 		JBrowse link
G S Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chrNW_004936478:6,848,448...6,889,103 JBrowse link
G D GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr14:43,308,274...43,351,999
Ensembl chr14:43,308,152...43,396,487 		JBrowse link
G B GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr 7:31,208,351...31,247,841
Ensembl chr 7:31,329,456...31,368,582 		JBrowse link
G C Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chrNW_004955410:31,778,654...31,819,287
Ensembl chrNW_004955410:31,779,543...31,819,113 		JBrowse link
G H GARS1 glycyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr 7:30,594,735...30,634,033
Ensembl chr 7:30,580,533...30,634,033
Ensembl chr 7:30,580,533...30,634,033 		JBrowse link
G M Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Motor axonal neuropathy ClinVar NCBI chrNW_004624831:1,665,507...1,801,409 JBrowse link
G V GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Motor axonal neuropathy ClinVar NCBI chr 9:95,281,953...95,416,050
Ensembl chr 9:95,281,954...95,416,086 		JBrowse link
G P GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Motor axonal neuropathy ClinVar NCBI chr14:113,245,486...113,379,472
Ensembl chr14:113,245,499...113,379,474 		JBrowse link
G S Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Motor axonal neuropathy ClinVar NCBI chrNW_004936600:3,479,045...3,604,241 JBrowse link
G D GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Motor axonal neuropathy ClinVar NCBI chr28:14,775,431...14,896,121
Ensembl chr28:14,788,369...14,895,978 		JBrowse link
G B GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Motor axonal neuropathy ClinVar NCBI chr10:98,849,000...98,986,443
Ensembl chr10:102,316,329...102,452,439 		JBrowse link
G C Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Motor axonal neuropathy ClinVar NCBI chrNW_004955485:8,006,161...8,126,074
Ensembl chrNW_004955485:8,006,706...8,115,561 		JBrowse link
G R Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Motor axonal neuropathy ClinVar NCBI chr 1:265,904,616...266,033,107
Ensembl chr 1:265,904,566...266,033,156 		JBrowse link
G M Gbf1 golgi-specific brefeldin A-resistance factor 1 ISO ClinVar Annotator: match by term: Motor axonal neuropathy ClinVar NCBI chr19:46,152,509...46,286,510
Ensembl chr19:46,152,509...46,286,510 		JBrowse link
G H GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Motor axonal neuropathy ClinVar NCBI chr10:102,245,531...102,382,899
Ensembl chr10:102,245,532...102,382,899
Ensembl chr10:102,245,532...102,382,899 		JBrowse link
G M Gdap1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Axonal neuropathy ClinVar PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:25231362 PMID:25741868 PMID:28492532 NCBI chrNW_004624744:16,859,946...16,878,723 JBrowse link
G V GDAP1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Axonal neuropathy ClinVar PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:25231362 PMID:25741868 PMID:28492532 NCBI chr 8:69,948,800...69,965,168
Ensembl chr 8:69,949,052...69,966,421 		JBrowse link
G P GDAP1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Axonal neuropathy ClinVar PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:25231362 PMID:25741868 PMID:28492532 NCBI chr 4:61,577,413...61,596,106
Ensembl chr 4:61,577,416...61,596,303 		JBrowse link
G S Gdap1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Axonal neuropathy ClinVar PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:25231362 PMID:25741868 PMID:28492532 NCBI chrNW_004936648:2,981,802...2,999,161 JBrowse link
G D GDAP1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Axonal neuropathy ClinVar PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:25231362 PMID:25741868 PMID:28492532 NCBI chr29:22,805,468...22,835,909
Ensembl chr29:22,804,965...22,833,069 		JBrowse link
G B GDAP1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Axonal neuropathy ClinVar PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:25231362 PMID:25741868 PMID:28492532 NCBI chr 8:70,854,665...70,900,532
Ensembl chr 8:72,528,869...72,545,346 		JBrowse link
G C Gdap1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Axonal neuropathy ClinVar PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:25231362 PMID:25741868 PMID:28492532 NCBI chrNW_004955444:6,053,422...6,069,741
Ensembl chrNW_004955444:6,051,301...6,069,765 		JBrowse link
G R Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Axonal neuropathy ClinVar PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:25231362 PMID:25741868 PMID:28492532 NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921 		JBrowse link
G M Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Axonal neuropathy ClinVar PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:25231362 PMID:25741868 PMID:28492532 NCBI chr 1:17,145,373...17,164,271
Ensembl chr 1:17,145,362...17,164,271 		JBrowse link
G H GDAP1 ganglioside induced differentiation associated protein 1 IAGP ClinVar Annotator: match by term: Axonal neuropathy ClinVar PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:25231362 PMID:25741868 PMID:28492532 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G M Hint1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Sensory axonal neuropathy ClinVar NCBI chrNW_004624733:40,896,566...40,902,835 JBrowse link
G V HINT1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Sensory axonal neuropathy ClinVar NCBI chr23:34,019,009...34,025,006
Ensembl chr23:34,014,501...34,025,323 		JBrowse link
G P HINT1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Sensory axonal neuropathy ClinVar NCBI chr 2:133,469,765...133,475,813
Ensembl chr 2:133,467,137...133,475,734 		JBrowse link
G S Hint1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Sensory axonal neuropathy ClinVar NCBI chrNW_004936647:3,843,544...3,849,428 JBrowse link
G D HINT1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Sensory axonal neuropathy ClinVar NCBI chr11:19,551,057...19,555,390 JBrowse link
G B HINT1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Sensory axonal neuropathy ClinVar NCBI chr 5:126,587,934...126,594,032
Ensembl chr 5:132,755,766...132,761,823 		JBrowse link
G C Hint1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Sensory axonal neuropathy ClinVar NCBI chrNW_004955408:2,673,950...2,678,528
Ensembl chrNW_004955408:2,674,109...2,678,528 		JBrowse link
G R Hint1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Sensory axonal neuropathy ClinVar NCBI chr10:40,208,236...40,211,981
Ensembl chr10:40,208,223...40,211,975 		JBrowse link
G M Hint1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Sensory axonal neuropathy ClinVar NCBI chr11:54,866,383...54,870,506
Ensembl chr11:54,866,383...54,870,501 		JBrowse link
G H HINT1 histidine triad nucleotide binding protein 1 IAGP ClinVar Annotator: match by term: Sensory axonal neuropathy ClinVar NCBI chr 5:131,159,027...131,165,256
Ensembl chr 5:131,155,383...131,224,468
Ensembl chr 5:131,155,383...131,224,468 		JBrowse link
G M Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chrNW_004624807:8,103,665...8,201,567 JBrowse link
G V SYT2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr25:26,702,627...26,821,108
Ensembl chr25:26,808,007...26,817,314 		JBrowse link
G P SYT2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr10:24,638,645...24,727,198
Ensembl chr10:24,638,704...24,669,846 		JBrowse link
G S Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chrNW_004936567:1,941,651...1,984,422 JBrowse link
G D SYT2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr 7:497,387...509,338
Ensembl chr 7:497,394...502,952 		JBrowse link
G B SYT2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr 1:178,187,872...178,308,522
Ensembl chr 1:182,490,401...182,538,123 		JBrowse link
G C Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chrNW_004955406:38,638,192...38,743,077
Ensembl chrNW_004955406:38,643,911...38,743,222 		JBrowse link
G R Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr13:51,569,248...51,577,824
Ensembl chr13:51,534,025...51,578,052 		JBrowse link
G M Syt2 synaptotagmin II ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr 1:134,646,534...134,753,149
Ensembl chr 1:134,646,677...134,762,593 		JBrowse link
G H SYT2 synaptotagmin 2 IAGP ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454 		JBrowse link
G M Trim2 tripartite motif containing 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chrNW_004624858:4,509,893...4,683,241 JBrowse link
G V TRIM2 tripartite motif containing 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr 7:99,702,874...99,888,024
Ensembl chr 7:99,807,646...99,888,340 		JBrowse link
G P TRIM2 tripartite motif containing 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr 8:75,770,344...75,939,812
Ensembl chr 8:75,770,345...75,890,235 		JBrowse link
G S Trim2 tripartite motif containing 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chrNW_004936576:88,163...202,944 JBrowse link
G D TRIM2 tripartite motif containing 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr15:50,973,758...51,104,422 JBrowse link
G B TRIM2 tripartite motif containing 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr 4:145,494,088...145,681,287
Ensembl chr 4:157,194,729...157,500,723 		JBrowse link
G C Trim2 tripartite motif containing 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chrNW_004955471:7,523,895...7,698,436
Ensembl chrNW_004955471:7,594,966...7,698,436 		JBrowse link
G R Trim2 tripartite motif-containing 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr 2:183,145,096...183,223,819
Ensembl chr 2:183,145,089...183,213,228 		JBrowse link
G M Trim2 tripartite motif-containing 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr 3:84,160,439...84,308,352
Ensembl chr 3:84,160,439...84,306,877 		JBrowse link
G H TRIM2 tripartite motif containing 2 IAGP ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr 4:153,152,163...153,339,317
Ensembl chr 4:153,152,163...153,339,319
Ensembl chr 4:153,152,163...153,339,319 		JBrowse link
ataxia with oculomotor apraxia type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M Aptx aprataxin ISO ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia ClinVar PMID:24033266 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chrNW_004624736:37,729,624...37,757,780 JBrowse link
G V APTX aprataxin ISO ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia ClinVar PMID:24033266 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chr12:47,239,094...47,346,528
Ensembl chr12:47,258,798...47,287,102 		JBrowse link
G P APTX aprataxin ISO ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia ClinVar PMID:24033266 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chr10:33,470,089...33,495,584
Ensembl chr10:33,445,168...33,771,582 		JBrowse link
G S Aptx aprataxin ISO ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia ClinVar PMID:24033266 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chrNW_004936524:1,569,610...1,582,103 JBrowse link
G D APTX aprataxin ISO ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia ClinVar PMID:24033266 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chr11:50,111,003...50,155,937
Ensembl chr11:50,113,073...50,132,284 		JBrowse link
G B APTX aprataxin ISO ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia ClinVar PMID:24033266 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chr 9:32,747,409...32,819,270
Ensembl chr 9:33,556,419...33,585,060 		JBrowse link
G C Aptx aprataxin ISO ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia ClinVar PMID:24033266 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chrNW_004955472:2,645,716...2,664,394
Ensembl chrNW_004955472:2,652,869...2,664,272 		JBrowse link
G R Aptx aprataxin ISO ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia ClinVar PMID:24033266 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chr 5:56,987,714...57,009,481
Ensembl chr 5:56,987,909...57,008,859 		JBrowse link
G M Aptx aprataxin ISO ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia ClinVar PMID:24033266 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chr 4:40,682,078...40,721,667
Ensembl chr 4:40,682,382...40,703,194 		JBrowse link
G H APTX aprataxin IAGP ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia ClinVar PMID:24033266 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chr 9:32,883,872...33,025,120
Ensembl chr 9:32,886,601...33,025,130 		JBrowse link
G M Setx senataxin ISO OMIM NCBI chrNW_004624760:3,932,213...4,007,290 JBrowse link
G V SETX senataxin ISO OMIM NCBI chr12:5,773,122...5,872,372
Ensembl chr12:5,773,165...5,875,481 		JBrowse link
G P SETX senataxin ISO OMIM NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,750 		JBrowse link
G S Setx senataxin ISO OMIM NCBI chrNW_004936487:18,858,384...18,945,253 JBrowse link
G D SETX senataxin ISO OMIM NCBI chr 9:51,900,004...51,980,694
Ensembl chr 9:51,901,233...51,978,833 		JBrowse link
G B SETX senataxin ISO OMIM NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665 		JBrowse link
G C Setx senataxin ISO OMIM NCBI chrNW_004955513:1,718,432...1,776,133
Ensembl chrNW_004955513:1,718,377...1,777,021 		JBrowse link
G R Setx senataxin ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia
ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 1
ClinVar Annotator: match by term: Ataxia-ocular apraxia-2
ClinVar Annotator: match by OMIM:606002		 OMIM
ClinVar		 PMID:14770181 PMID:15732101 PMID:17159128 PMID:18058631 PMID:18414213 PMID:18625865 PMID:19569000 PMID:19696032 PMID:20540686 PMID:20981092 PMID:21190393 PMID:22088787 PMID:23129421 PMID:23757202 PMID:23806086 PMID:23881933 PMID:23941260 PMID:24033266 PMID:24088041 PMID:24760770 PMID:25025039 PMID:25116135 PMID:25174650 PMID:25299611 PMID:25326635 PMID:25382069 PMID:25741868 PMID:25802885 PMID:26257172 PMID:26467025 PMID:26601740 PMID:26633545 PMID:27013921 PMID:27790088 PMID:28130640 PMID:28492532 PMID:28642336 PMID:28832565 PMID:29411640 PMID:29650794 PMID:32253937 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539 		JBrowse link
G M Setx senataxin ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia
ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 1
ClinVar Annotator: match by term: Ataxia-ocular apraxia-2
ClinVar Annotator: match by OMIM:606002		 OMIM
ClinVar		 PMID:14770181 PMID:15732101 PMID:17159128 PMID:18058631 PMID:18414213 PMID:18625865 PMID:19569000 PMID:19696032 PMID:20540686 PMID:20981092 PMID:21190393 PMID:22088787 PMID:23129421 PMID:23757202 PMID:23806086 PMID:23881933 PMID:23941260 PMID:24033266 PMID:24088041 PMID:24760770 PMID:25025039 PMID:25116135 PMID:25174650 PMID:25299611 PMID:25326635 PMID:25382069 PMID:25741868 PMID:25802885 PMID:26257172 PMID:26467025 PMID:26601740 PMID:26633545 PMID:27013921 PMID:27790088 PMID:28130640 PMID:28492532 PMID:28642336 PMID:28832565 PMID:29411640 PMID:29650794 PMID:32253937 NCBI chr 2:29,123,588...29,182,471
Ensembl chr 2:29,124,181...29,182,471 		JBrowse link
G H SETX senataxin IAGP ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 1		 ClinVar
OMIM		 PMID:14770181 PMID:15732101 PMID:17159128 PMID:18058631 PMID:18414213 PMID:18625865 PMID:19569000 PMID:19696032 PMID:20540686 PMID:20981092 PMID:21190393 PMID:22088787 PMID:23129421 PMID:23757202 PMID:23806086 PMID:23881933 PMID:23941260 PMID:24033266 PMID:24088041 PMID:24760770 PMID:25025039 PMID:25116135 PMID:25174650 PMID:25299611 PMID:25326635 PMID:25382069 PMID:25741868 PMID:25802885 PMID:26257172 PMID:26467025 PMID:26601740 PMID:26633545 PMID:27013921 PMID:27790088 PMID:28130640 PMID:28492532 PMID:28642336 PMID:28832565 PMID:29411640 PMID:29650794 PMID:32253937 NCBI chr 9:132,261,356...132,356,726
Ensembl chr 9:132,261,356...132,354,986 		JBrowse link
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G V COA7 cytochrome c oxidase assembly factor 7 ISO OMIM NCBI chr20:80,244,277...80,256,969
Ensembl chr20:80,244,267...80,259,348 		JBrowse link
G P COA7 cytochrome c oxidase assembly factor 7 ISO OMIM NCBI chr 6:159,511,862...159,528,982
Ensembl chr 6:159,511,853...159,528,049 		JBrowse link
G D COA7 cytochrome c oxidase assembly factor 7 ISO OMIM NCBI chr15:8,706,047...8,718,184
Ensembl chr15:8,706,070...8,717,425 		JBrowse link
G R Coa7 cytochrome c oxidase assembly factor 7 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 OMIM
ClinVar		 PMID:27683825 PMID:29718187 PMID:30885959 NCBI chr 5:127,925,726...127,936,516
Ensembl chr 5:127,925,726...127,936,509 		JBrowse link
G M Coa7 cytochrome c oxidase assembly factor 7 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 OMIM
ClinVar		 PMID:27683825 PMID:29718187 PMID:30885959 NCBI chr 4:108,328,152...108,340,718
Ensembl chr 4:108,328,140...108,341,544 		JBrowse link
G H COA7 cytochrome c oxidase assembly factor 7 IAGP ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 OMIM
ClinVar		 PMID:27683825 PMID:29718187 PMID:30885959 NCBI chr 1:52,684,449...52,698,347
Ensembl chr 1:52,684,449...52,698,347 		JBrowse link
G B LOC100990610 cytochrome c oxidase assembly factor 7 ISO OMIM NCBI chr 1:51,946,060...51,960,364
Ensembl chr 1:53,554,945...53,566,489 		JBrowse link
G M LOC101708769 cytochrome c oxidase assembly factor 7 ISO OMIM NCBI chrNW_004624859:514,350...531,213 JBrowse link
G S LOC101967386 cytochrome c oxidase assembly factor 7 ISO OMIM NCBI chrNW_004936522:8,291,293...8,309,949 JBrowse link
G C LOC102016246 cytochrome c oxidase assembly factor 7 ISO OMIM NCBI chrNW_004955464:6,472,158...6,490,618
Ensembl chrNW_004955464:6,472,053...6,497,526 		JBrowse link
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M Morc2 MORC family CW-type zinc finger 2 ISO OMIM NCBI chrNW_004624747:7,386,052...7,426,257 JBrowse link
G V MORC2 MORC family CW-type zinc finger 2 ISO OMIM NCBI chr19:13,817,597...13,859,986
Ensembl chr19:13,815,467...13,858,633 		JBrowse link
G P MORC2 MORC family CW-type zinc finger 2 ISO OMIM NCBI chr14:47,755,264...47,800,432
Ensembl chr14:47,754,282...47,799,643 		JBrowse link
G S Morc2 MORC family CW-type zinc finger 2 ISO OMIM NCBI chrNW_004936755:133,315...171,507 JBrowse link
G D MORC2 MORC family CW-type zinc finger 2 ISO OMIM NCBI chr26:23,951,704...23,993,620
Ensembl chr26:23,953,130...23,992,431 		JBrowse link
G B MORC2 MORC family CW-type zinc finger 2 ISO OMIM NCBI chr22:11,912,043...11,995,497
Ensembl chr22:29,753,241...29,795,632 		JBrowse link
G C Morc2 MORC family CW-type zinc finger 2 ISO OMIM NCBI chrNW_004955455:5,124,737...5,164,495
Ensembl chrNW_004955455:5,124,737...5,164,495 		JBrowse link
G R Morc2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:28771897 PMID:32693025 NCBI chr14:83,889,138...83,930,263
Ensembl chr14:83,889,089...83,930,522 		JBrowse link
G H MORC2 MORC family CW-type zinc finger 2 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:28771897 PMID:32693025 NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774 		JBrowse link
G M Morc2a microrchidia 2A ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:28771897 PMID:32693025 NCBI chr11:3,649,189...3,690,477
Ensembl chr11:3,649,191...3,690,477 		JBrowse link
Giant Axonal Neuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M Gan gigaxonin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624746:6,070,680...6,126,949 JBrowse link
G V GAN gigaxonin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:66,754,752...66,820,933
Ensembl chr 5:66,754,893...66,816,761 		JBrowse link
G P GAN gigaxonin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:6,921,446...6,989,670
Ensembl chr 6:6,933,485...6,989,653 		JBrowse link
G S Gan gigaxonin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936475:28,913,132...28,979,656 JBrowse link
G D GAN gigaxonin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:70,518,667...70,579,398
Ensembl chr 5:70,530,396...70,579,567 		JBrowse link
G B GAN gigaxonin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:61,919,004...61,994,811
Ensembl chr16:81,347,215...81,410,363 		JBrowse link
G C Gan gigaxonin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955522:4,035,672...4,096,845
Ensembl chrNW_004955522:4,035,672...4,090,630 		JBrowse link
G R Gan gigaxonin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:49,692,790...49,746,178
Ensembl chr19:49,695,579...49,741,965 		JBrowse link
G M Gan giant axonal neuropathy ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:117,157,981...117,205,834
Ensembl chr 8:117,158,135...117,215,997 		JBrowse link
G H GAN gigaxonin EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr16:81,314,962...81,390,809
Ensembl chr16:81,314,944...81,390,809
Ensembl chr16:81,314,944...81,390,809 		JBrowse link
giant axonal neuropathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M 1700030J22Rik RIKEN cDNA 1700030J22 gene ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 8:116,969,594...116,978,959
Ensembl chr 8:116,969,594...116,978,959 		JBrowse link
G M Atmin ATM interactor ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004624746:6,290,715...6,305,780 JBrowse link
G V ATMIN ATM interactor ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 5:66,492,443...66,503,813
Ensembl chr 5:66,492,599...66,503,908 		JBrowse link
G P ATMIN ATM interactor ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 6:7,209,512...7,223,195
Ensembl chr 6:7,208,158...7,223,155 		JBrowse link
G S Atmin ATM interactor ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004936547:3,192,904...3,339,985 JBrowse link
G D ATMIN ATM interactor ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 5:70,779,676...70,795,829
Ensembl chr 5:70,782,853...70,795,888 		JBrowse link
G B ATMIN ATM interactor ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr16:61,642,394...61,653,921 JBrowse link
G C Atmin ATM interactor ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004955522:3,829,875...3,835,449
Ensembl chrNW_004955522:3,829,865...3,835,449 		JBrowse link
G R Atmin ATM interactor ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:49,482,482...49,499,682 JBrowse link
G M Atmin ATM interactor ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 8:116,943,383...116,960,445
Ensembl chr 8:116,943,393...116,960,445 		JBrowse link
G H ATMIN ATM interactor IAGP ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr16:81,035,842...81,047,350
Ensembl chr16:81,035,842...81,047,350 		JBrowse link
G M Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004624746:6,146,338...6,181,020 JBrowse link
G V BCO1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 5:66,681,756...66,730,832
Ensembl chr 5:66,681,513...66,733,604 		JBrowse link
G P BCO1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 6:7,008,330...7,054,089
Ensembl chr 6:7,012,613...7,105,271 		JBrowse link
G S Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004936475:28,859,222...28,890,407 JBrowse link
G D BCO1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 5:70,598,743...70,637,273
Ensembl chr 5:70,599,284...70,637,017 		JBrowse link
G B BCO1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr16:61,843,567...61,897,012
Ensembl chr16:81,270,577...81,323,088 		JBrowse link
G C Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004955522:3,985,515...4,018,116
Ensembl chrNW_004955522:3,985,266...4,018,886 		JBrowse link
G R Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:49,637,059...49,673,577
Ensembl chr19:49,637,016...49,673,808 		JBrowse link
G M Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 8:117,095,851...117,133,720
Ensembl chr 8:117,095,854...117,133,720 		JBrowse link
G H BCO1 beta-carotene oxygenase 1 IAGP ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr16:81,238,448...81,291,142
Ensembl chr16:81,238,689...81,291,142 		JBrowse link
G B C16H16orf46 chromosome 16 C16orf46 homolog ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr16:61,659,749...61,684,534
Ensembl chr16:81,088,460...81,098,032 		JBrowse link
G H C16orf46 chromosome 16 open reading frame 46 IAGP ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr16:81,053,497...81,077,254
Ensembl chr16:81,053,497...81,077,267 		JBrowse link
G D C5H16orf46 chromosome 5 C16orf46 homolog ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 5:70,762,353...70,775,341
Ensembl chr 5:70,765,736...70,774,052 		JBrowse link
G P C6H16orf46 chromosome 6 C16orf46 homolog ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 6:7,189,026...7,208,669
Ensembl chr 6:7,189,523...7,207,357 		JBrowse link
G M Cdyl2 chromodomain Y like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004624746:6,593,962...6,765,340 JBrowse link
G V CDYL2 chromodomain Y like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 5:66,055,202...66,207,508
Ensembl chr 5:66,061,656...66,262,904 		JBrowse link
G P CDYL2 chromodomain Y like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 6:7,420,477...7,707,446
Ensembl chr 6:7,420,763...7,604,985 		JBrowse link
G S Cdyl2 chromodomain Y like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004936475:28,333,471...28,386,643 JBrowse link
G D CDYL2 chromodomain Y like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 5:71,080,757...71,133,585
Ensembl chr 5:71,045,643...71,127,112 		JBrowse link
G B CDYL2 chromodomain Y like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr16:61,196,716...61,409,662
Ensembl chr16:80,627,731...80,837,797 		JBrowse link
G C Cdyl2 chromodomain Y like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004955522:3,403,542...3,458,029
Ensembl chrNW_004955522:3,409,054...3,571,178 		JBrowse link
G R Cdyl2 chromodomain Y-like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:49,087,131...49,222,528
Ensembl chr19:49,093,355...49,198,073 		JBrowse link
G M Cdyl2 chromodomain protein, Y chromosome-like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 8:116,568,723...116,732,991
Ensembl chr 8:116,574,400...116,732,991 		JBrowse link
G H CDYL2 chromodomain Y like 2 IAGP ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr16:80,597,899...80,805,043
Ensembl chr16:80,597,907...80,804,598 		JBrowse link
G M Cenpn centromere protein N ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004624746:6,309,194...6,331,152 JBrowse link
G V CENPN centromere protein N ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 5:66,459,008...66,483,945
Ensembl chr 5:66,464,569...66,483,932 		JBrowse link
G P CENPN centromere protein N ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 6:7,227,981...7,254,927
Ensembl chr 6:7,227,982...7,254,866 		JBrowse link
G S Cenpn centromere protein N ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004936475:28,683,233...28,702,466 JBrowse link
G D CENPN centromere protein N ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 5:70,798,322...70,820,927
Ensembl chr 5:70,798,886...70,820,960 		JBrowse link
G B CENPN centromere protein N ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr16:61,611,724...61,639,253
Ensembl chr16:81,039,744...81,067,919 		JBrowse link
G C Cenpn centromere protein N ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004955522:3,801,856...3,818,675
Ensembl chrNW_004955522:3,804,578...3,818,885 		JBrowse link
G R Cenpn centromere protein N ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:49,457,461...49,479,989
Ensembl chr19:49,340,184...49,479,996 		JBrowse link
G M Cenpn centromere protein N ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 8:116,921,716...116,941,504
Ensembl chr 8:116,921,730...116,941,507 		JBrowse link
G H CENPN centromere protein N IAGP ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr16:81,007,214...81,033,107
Ensembl chr16:81,006,498...81,033,114
Ensembl chr16:81,006,498...81,033,114 		JBrowse link
G M Cmc2 C-X9-C motif containing 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004624746:6,330,932...6,369,245 JBrowse link
G V CMC2 C-X9-C motif containing 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 5:66,426,682...66,459,610
Ensembl chr 5:66,426,557...66,460,003 		JBrowse link
G P CMC2 C-X9-C motif containing 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 6:7,254,937...7,278,714 JBrowse link
G S Cmc2 C-X9-C motif containing 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004936475:28,657,623...28,682,947 JBrowse link
G B CMC2 C-X9-C motif containing 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr16:61,582,018...61,612,597
Ensembl chr16:81,009,625...81,040,355 		JBrowse link
G C Cmc2 C-X9-C motif containing 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004955522:3,774,136...3,801,892
Ensembl chrNW_004955522:3,773,997...3,802,336 		JBrowse link
G R Cmc2 C-x(9)-C motif containing 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:49,433,332...49,457,641
Ensembl chr19:49,433,590...49,448,072 		JBrowse link
G M Cmc2 COX assembly mitochondrial protein 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 8:116,888,685...116,944,322
Ensembl chr 8:116,888,685...116,921,455 		JBrowse link
G H CMC2 C-X9-C motif containing 2 IAGP ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr16:80,966,448...81,007,036
Ensembl chr16:80,966,448...81,020,270 		JBrowse link
G M CUNH16orf46 chromosome unknown C16orf46 homolog ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004624746:6,281,954...6,289,142 JBrowse link
G V CUNH16orf46 chromosome unknown C16orf46 homolog ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 5:66,509,242...66,531,699
Ensembl chr 5:66,509,298...66,519,426 		JBrowse link
G S CUNH16orf46 chromosome unknown C16orf46 homolog ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004936475:28,712,249...28,744,784 JBrowse link
G M Gan gigaxonin ISO OMIM NCBI chrNW_004624746:6,070,680...6,126,949 JBrowse link
G V GAN gigaxonin ISO OMIM NCBI chr 5:66,754,752...66,820,933
Ensembl chr 5:66,754,893...66,816,761 		JBrowse link
G P GAN gigaxonin ISO OMIM NCBI chr 6:6,921,446...6,989,670
Ensembl chr 6:6,933,485...6,989,653 		JBrowse link
G S Gan gigaxonin ISO OMIM NCBI chrNW_004936475:28,913,132...28,979,656 JBrowse link
G D GAN gigaxonin ISO OMIM NCBI chr 5:70,518,667...70,579,398
Ensembl chr 5:70,530,396...70,579,567 		JBrowse link
G B GAN gigaxonin ISO OMIM NCBI chr16:61,919,004...61,994,811
Ensembl chr16:81,347,215...81,410,363 		JBrowse link
G C Gan gigaxonin ISO OMIM NCBI chrNW_004955522:4,035,672...4,096,845
Ensembl chrNW_004955522:4,035,672...4,090,630 		JBrowse link
G R Gan gigaxonin ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 OMIM
ClinVar		 PMID:2153943 PMID:11053687 PMID:11062483 PMID:11971098 PMID:12655563 PMID:12668605 PMID:14718689 PMID:15897506 PMID:17331252 PMID:17578852 PMID:17587580 PMID:19231187 PMID:19295179 PMID:20949505 PMID:21356581 PMID:23248352 PMID:23316953 PMID:23332420 PMID:23890932 PMID:24464710 PMID:24758703 PMID:25025039 PMID:25040701 PMID:25326635 PMID:25741868 PMID:28492532 PMID:30373780 NCBI chr19:49,692,790...49,746,178
Ensembl chr19:49,695,579...49,741,965 		JBrowse link
G M Gan giant axonal neuropathy ISO
IEA		 ClinVar Annotator: match by term: Giant axonal neuropathy 1
OMIM:256850		 OMIM
ClinVar
MouseDO		 PMID:2153943 PMID:11053687 PMID:11062483 PMID:11971098 PMID:12655563 PMID:12668605 PMID:14718689 PMID:15897506 PMID:17331252 PMID:17578852 PMID:17587580 PMID:19231187 PMID:19295179 PMID:20949505 PMID:21356581 PMID:23248352 PMID:23316953 PMID:23332420 PMID:23890932 PMID:24464710 PMID:24758703 PMID:25025039 PMID:25040701 PMID:25326635 PMID:25741868 PMID:28492532 PMID:30373780 NCBI chr 8:117,157,981...117,205,834
Ensembl chr 8:117,158,135...117,215,997 		JBrowse link
G H GAN gigaxonin IAGP ClinVar Annotator: match by term: Giant axonal neuropathy 1 OMIM
ClinVar		 PMID:2153943 PMID:11053687 PMID:11062483 PMID:11971098 PMID:12655563 PMID:12668605 PMID:14718689 PMID:15897506 PMID:17331252 PMID:17578852 PMID:17587580 PMID:19231187 PMID:19295179 PMID:20949505 PMID:21356581 PMID:23248352 PMID:23316953 PMID:23332420 PMID:23890932 PMID:24464710 PMID:24758703 PMID:25025039 PMID:25040701 PMID:25326635 PMID:25741868 PMID:28492532 PMID:30373780 NCBI chr16:81,314,962...81,390,809
Ensembl chr16:81,314,944...81,390,809
Ensembl chr16:81,314,944...81,390,809 		JBrowse link
G M Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004624746:6,264,447...6,278,085 JBrowse link
G V GCSH glycine cleavage system protein H ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 5:66,538,377...66,551,068
Ensembl chr 5:66,538,871...66,550,817 		JBrowse link
G P GCSH glycine cleavage system protein H ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 6:7,171,186...7,184,732 JBrowse link
G S Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004936475:28,749,545...28,760,242 JBrowse link
G D GCSH glycine cleavage system protein H ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 5:70,745,591...70,757,292
Ensembl chr 5:70,745,258...70,756,830 		JBrowse link
G B GCSH glycine cleavage system protein H ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr16:61,688,959...61,702,364 JBrowse link
G C Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004955522:3,858,156...3,869,730 JBrowse link
G R Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:49,522,054...49,532,811
Ensembl chr19:49,522,054...49,532,811 		JBrowse link
G M Gcsh glycine cleavage system protein H (aminomethyl carrier) ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 8:116,981,967...116,993,498
Ensembl chr 8:116,981,810...116,993,537 		JBrowse link
G H GCSH glycine cleavage system protein H IAGP ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr16:81,081,945...81,096,395
Ensembl chr16:81,081,945...81,096,395
Ensembl chr16:81,081,945...81,096,395 		JBrowse link
G B LOC100988147 polycystic kidney disease protein 1-like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr16:61,736,153...61,770,746 JBrowse link
G C LOC102030116 chromosome unknown open reading frame, human C16orf46 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004955522:3,845,029...3,853,167 JBrowse link
G D LOC102155476 COX assembly mitochondrial protein 2 homolog ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr10:6,581,983...6,582,314
Ensembl chr 5:70,821,294...70,836,763 		JBrowse link
G R LOC687399 hypothetical protein LOC687399 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:49,508,321...49,518,721
Ensembl chr19:49,508,288...49,518,721 		JBrowse link
G M Pkd1l2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004624746:6,187,851...6,259,586 JBrowse link
G V PKD1L2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 5:66,555,686...66,662,670 JBrowse link
G P PKD1L2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 6:7,065,143...7,166,620
Ensembl chr 6:7,066,912...7,110,944 		JBrowse link
G S Pkd1l2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004936475:28,765,416...28,846,310 JBrowse link
G D PKD1L2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 5:70,653,179...70,741,134
Ensembl chr 5:70,653,179...70,693,510 		JBrowse link
G C Pkd1l2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004955522:3,877,806...3,963,197 JBrowse link
G R Pkd1l2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:49,535,122...49,624,291
Ensembl chr19:49,535,792...49,623,758 		JBrowse link
G M Pkd1l2 polycystic kidney disease 1 like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 8:116,995,679...117,082,449
Ensembl chr 8:116,995,679...117,082,449 		JBrowse link
G H PKD1L2 polycystin 1 like 2 (gene/pseudogene) IAGP ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr16:81,100,875...81,220,394
Ensembl chr16:81,100,875...81,220,370 		JBrowse link
giant axonal neuropathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M Dcaf8 DDB1 and CUL4 associated factor 8 ISO OMIM NCBI chrNW_004624794:996,012...1,041,301 JBrowse link
G V DCAF8 DDB1 and CUL4 associated factor 8 ISO OMIM NCBI chr20:3,685,340...3,731,323
Ensembl chr20:3,703,641...3,729,479 		JBrowse link
G P DCAF8 DDB1 and CUL4 associated factor 8 ISO OMIM NCBI chr 4:90,214,916...90,263,259
Ensembl chr 4:90,197,088...90,261,551 		JBrowse link
G S Dcaf8 DDB1 and CUL4 associated factor 8 ISO OMIM NCBI chrNW_004936740:368,795...415,997 JBrowse link
G D DCAF8 DDB1 and CUL4 associated factor 8 ISO OMIM NCBI chr38:21,959,228...22,001,388
Ensembl chr38:21,959,254...21,999,677 		JBrowse link
G B DCAF8 DDB1 and CUL4 associated factor 8 ISO OMIM NCBI chr 1:135,569,736...135,616,614
Ensembl chr 1:139,490,069...139,537,572 		JBrowse link
G C Dcaf8 DDB1 and CUL4 associated factor 8 ISO OMIM NCBI chrNW_004955468:11,991,779...12,037,541
Ensembl chrNW_004955468:11,991,779...12,036,835 		JBrowse link
G R Dcaf8 DDB1 and CUL4 associated factor 8 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 2, autosomal dominant
ClinVar Annotator: match by OMIM:610100		 OMIM
ClinVar		 PMID:3859241 PMID:24500646 PMID:25741868 NCBI chr13:90,532,153...90,587,542
Ensembl chr13:90,532,326...90,591,796 		JBrowse link
G M Dcaf8 DDB1 and CUL4 associated factor 8 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 2, autosomal dominant
ClinVar Annotator: match by OMIM:610100		 OMIM
ClinVar		 PMID:3859241 PMID:24500646 PMID:25741868 NCBI chr 1:172,148,015...172,196,393
Ensembl chr 1:172,148,084...172,197,005 		JBrowse link
G H DCAF8 DDB1 and CUL4 associated factor 8 IAGP ClinVar Annotator: match by term: Giant axonal neuropathy, autosomal dominant
ClinVar Annotator: match by term: Giant axonal neuropathy 2, autosomal dominant		 ClinVar
OMIM		 PMID:3859241 PMID:24500646 PMID:25741868 NCBI chr 1:160,215,720...160,262,549
Ensembl chr 1:160,215,715...160,262,549
Ensembl chr 1:160,215,715...160,262,549 		JBrowse link
spinocerebellar ataxia type 1 with axonal neuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO OMIM NCBI chrNW_004624734:12,319,499...12,414,815 JBrowse link
G V TDP1 tyrosyl-DNA phosphodiesterase 1 ISO OMIM NCBI chr24:67,672,178...67,762,340 JBrowse link
G P TDP1 tyrosyl-DNA phosphodiesterase 1 ISO OMIM NCBI chr 7:111,767,094...111,853,262
Ensembl chr 7:111,767,089...111,853,257 		JBrowse link
G S Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO OMIM NCBI chrNW_004936488:17,237,002...17,311,325 JBrowse link
G D TDP1 tyrosyl-DNA phosphodiesterase 1 ISO OMIM NCBI chr 8:61,023,564...61,107,599
Ensembl chr 8:61,024,084...61,107,506 		JBrowse link
G B TDP1 tyrosyl-DNA phosphodiesterase 1 ISO OMIM NCBI chr14:70,574,066...70,662,562
Ensembl chr14:89,926,462...90,014,802 		JBrowse link
G C Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO OMIM NCBI chrNW_004955438:12,421,790...12,510,243
Ensembl chrNW_004955438:12,421,005...12,511,493 		JBrowse link
G R Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 OMIM
ClinVar		 PMID:12244316 PMID:24355542 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:123,895,860...123,963,688
Ensembl chr 6:123,897,956...123,963,675 		JBrowse link
G M Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO
IEA		 ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
OMIM:607250		 OMIM
ClinVar
MouseDO		 PMID:12244316 PMID:24355542 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:99,884,515...99,955,223
Ensembl chr12:99,884,517...99,955,219 		JBrowse link
G H TDP1 tyrosyl-DNA phosphodiesterase 1 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 OMIM
ClinVar		 PMID:12244316 PMID:24355542 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr14:89,954,923...90,044,768
Ensembl chr14:89,954,939...90,044,764 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 110781
    disease of anatomical entity 105719
      nervous system disease 83959
        peripheral nervous system disease 18906
          neuropathy 17569
            axonal neuropathy 200
              Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy + 32
              DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY 8
              Giant Axonal Neuropathy + 80
paths to the root