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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.


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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