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G |
BICD2 |
BICD cargo adaptor 2 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant |
ClinVar |
PMID:8114789 PMID:22628388 PMID:23664116 PMID:23664119 PMID:23664120 PMID:24336790 PMID:25497877 PMID:25741868 PMID:26467025 PMID:27549087 PMID:27784775 PMID:28251916 PMID:28492532 PMID:28832565 PMID:28883039 PMID:32581362 More...
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NCBI chr 3:42,393,270...42,456,821
Ensembl chr 3:42,393,277...42,456,782
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G |
DYNC1H1 |
dynein cytoplasmic 1 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant |
ClinVar |
PMID:12730604 PMID:20697106 PMID:21102439 PMID:22459677 PMID:23664120 PMID:25326635 PMID:25484024 PMID:25497877 PMID:25512093 PMID:25609763 PMID:25741868 PMID:26100331 PMID:27066557 PMID:27549087 PMID:28492532 PMID:28554554 PMID:29671837 PMID:31127727 PMID:32788638 More...
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G |
FIG4 |
FIG4 phosphoinositide 5-phosphatase |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant |
ClinVar |
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NCBI chr 1:75,694,151...75,847,021
Ensembl chr 1:75,694,151...75,847,528
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G |
GARS1 |
glycyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant |
ClinVar |
PMID:17101916 PMID:20301420 PMID:22462675 PMID:25168514 |
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NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162
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G |
IGHMBP2 |
immunoglobulin mu DNA binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant |
ClinVar |
PMID:2545169 PMID:11528396 PMID:14681881 PMID:15108294 PMID:15797190 PMID:16199547 PMID:16964485 PMID:17431882 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20859832 PMID:22157136 PMID:22965130 PMID:23449687 PMID:23566544 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24342282 PMID:24388491 PMID:25280635 PMID:25439726 PMID:25454169 PMID:25568292 PMID:25741868 PMID:26136520 PMID:26467025 PMID:26709713 PMID:27450922 PMID:28403181 PMID:28492532 PMID:29761130 PMID:30598237 PMID:31020813 PMID:31211173 PMID:36077311 PMID:38772550 More...
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NCBI chr 2:4,169,510...4,194,699
Ensembl chr 2:4,171,344...4,194,525
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G |
LMNA |
lamin A/C |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant |
ClinVar |
PMID:18585512 PMID:18926329 PMID:25741868 PMID:25886484 PMID:28152038 PMID:28492532 More...
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NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320
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G |
MORC2 |
MORC family CW-type zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant |
ClinVar |
PMID:26659848 PMID:28492532 PMID:31475037 |
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NCBI chr14:47,755,264...47,800,432
Ensembl chr14:47,755,267...47,799,628
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G |
NEFL |
neurofilament light chain |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant |
ClinVar |
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NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
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G |
SETX |
senataxin |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant |
ClinVar |
PMID:19696032 PMID:22088787 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747
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G |
TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant |
ClinVar |
PMID:1520078 PMID:8179305 PMID:10463355 PMID:15668982 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21115951 PMID:21288981 PMID:21454511 PMID:22065612 PMID:22291064 PMID:22526352 PMID:22702953 PMID:24319099 PMID:24789864 PMID:25741868 PMID:26048687 PMID:26467025 PMID:26948711 PMID:28492532 PMID:31041394 PMID:31191204 PMID:31468327 PMID:32579787 More...
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NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578
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G |
IGHMBP2 |
immunoglobulin mu DNA binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 1 |
ClinVar |
PMID:14681881 PMID:25439726 PMID:25568292 PMID:25741868 PMID:28492532 |
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NCBI chr 2:4,169,510...4,194,699
Ensembl chr 2:4,171,344...4,194,525
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G |
EMILIN1 |
elastin microfibril interfacer 1 |
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ISO |
ClinVar Annotator: match by term: EMILIN1-related condition | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 10 |
OMIM ClinVar |
PMID:25741868 PMID:26462740 PMID:28492532 PMID:31978608 PMID:36351433 |
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NCBI chr 3:112,031,910...112,039,928
Ensembl chr 3:112,031,917...112,046,429
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G |
SPTAN1 |
spectrin alpha, non-erythrocytic 1 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 11 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31332438 PMID:33206935 PMID:33578420 PMID:34590414 More...
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NCBI chr 1:268,936,120...269,002,261
Ensembl chr 1:268,936,025...269,002,256
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G |
BICD2 |
BICD cargo adaptor 2 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B |
ClinVar |
PMID:24002164 PMID:28492532 |
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NCBI chr 3:42,393,270...42,456,821
Ensembl chr 3:42,393,277...42,456,782
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G |
REEP1 |
receptor accessory protein 1 |
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ISO |
ClinVar Annotator: match by term: DHMN VB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B |
OMIM ClinVar |
PMID:16826527 PMID:18321925 PMID:18644145 PMID:19034539 PMID:20718791 PMID:21618648 PMID:22703882 PMID:24478229 PMID:25741868 PMID:26467025 PMID:28492532 PMID:34193129 More...
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NCBI chr 3:58,436,319...58,558,943
Ensembl chr 3:58,436,324...58,558,934
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G |
BSCL2 |
BSCL2 lipid droplet biogenesis associated, seipin |
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ISO |
ClinVar Annotator: match by term: DHMN VC | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5C | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, HARDING TYPE VC |
OMIM ClinVar |
PMID:1674639 PMID:5964029 PMID:11479539 PMID:12362029 PMID:14557463 PMID:14981520 PMID:15126564 PMID:15732094 PMID:16427281 PMID:16574104 PMID:17387721 PMID:17486577 PMID:18585921 PMID:18612770 PMID:18690553 PMID:18790819 PMID:19226263 PMID:19396477 PMID:19762912 PMID:20301391 PMID:20598714 PMID:20806400 PMID:21126715 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23142943 PMID:23292937 PMID:23553728 PMID:23564749 PMID:23989774 PMID:24345054 PMID:24451228 PMID:24604904 PMID:25219579 PMID:25454168 PMID:25487175 PMID:25741868 PMID:25832430 PMID:26072926 PMID:26467025 PMID:26815532 PMID:26989944 PMID:27027447 PMID:27549087 PMID:27612026 PMID:27632409 PMID:27738760 PMID:27862672 PMID:28362824 PMID:28492532 PMID:28916377 PMID:29269637 PMID:29478747 PMID:30903322 PMID:31369919 PMID:31372974 PMID:31475473 PMID:31770241 PMID:31824185 PMID:32320108 PMID:32397312 PMID:32792356 PMID:34085946 PMID:34232518 PMID:34942918 PMID:35351089 More...
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NCBI chr 2:9,052,676...9,064,890
Ensembl chr 2:9,052,070...9,064,886
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G |
DCTN1 |
dynactin subunit 1 |
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ISO |
ClinVar Annotator: match by term: LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, HARDING TYPE VIIB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7B |
ClinVar OMIM |
PMID:9536098 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 PMID:16505168 PMID:17576681 PMID:17824900 PMID:18094236 PMID:18364389 PMID:18812314 PMID:19136952 PMID:19279216 PMID:19506225 PMID:20437543 PMID:20945553 PMID:22777741 PMID:23143281 PMID:24627108 PMID:25025039 PMID:25299611 PMID:25382069 PMID:25590979 PMID:25635128 PMID:25741868 PMID:26392352 PMID:26429889 PMID:26467025 PMID:26662454 PMID:26742954 PMID:27132499 PMID:27573046 PMID:28130640 PMID:28430856 PMID:28492532 PMID:28518168 PMID:28625595 PMID:28717666 PMID:28792508 PMID:29525178 PMID:29525180 PMID:30373780 PMID:32028661 PMID:32402491 PMID:32461654 PMID:32843152 PMID:33006056 PMID:33369814 PMID:33408239 PMID:33414559 PMID:33973882 PMID:35873773 PMID:37301908 PMID:37668947 PMID:37952009 PMID:39825153 More...
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NCBI chr 3:68,642,562...68,673,605
Ensembl chr 3:68,643,247...68,673,604
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G |
DYNC1H1 |
dynein cytoplasmic 1 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:25635128 |
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G |
GARS1 |
glycyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:25635128 |
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NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162
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G |
MFN2 |
mitofusin 2 |
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ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:16199547 PMID:16714318 PMID:18425620 PMID:21715711 PMID:22206013 PMID:26955893 PMID:28492532 More...
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NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438
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G |
MPZ |
myelin protein zero |
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ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:7693129 PMID:20571287 PMID:25694466 PMID:28492532 |
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NCBI chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925
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G |
NEFL |
neurofilament light chain |
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ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
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G |
PLEKHG5 |
pleckstrin homology and RhoGEF domain containing G5 |
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ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:16728649 PMID:17564964 |
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NCBI chr 6:67,316,818...67,373,787
Ensembl chr 6:67,321,534...67,362,838
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G |
SCN11A |
sodium voltage-gated channel alpha subunit 11 |
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ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:24776970 PMID:25741868 PMID:28492532 |
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NCBI chr13:23,602,378...23,692,281
Ensembl chr13:23,602,977...23,692,220
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G |
SETX |
senataxin |
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ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:24533459 |
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NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747
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G |
SH3TC2 |
SH3 domain and tetratricopeptide repeats 2 |
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ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:26467025 PMID:28492532 |
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NCBI chr 2:150,183,480...150,247,747
Ensembl chr 2:150,183,485...150,247,637
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G |
TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:20037586 PMID:20037587 PMID:20037588 PMID:20460441 PMID:21336783 PMID:22702953 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28492532 More...
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NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578
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G |
BAG3 |
BAG cochaperone 3 |
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ISO |
ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 15 |
OMIM ClinVar |
PMID:37907725 |
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NCBI chr14:129,510,240...129,533,998
Ensembl chr14:129,466,905...129,533,993
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G |
FBXO38 |
F-box protein 38 |
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ISO |
ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 |
ClinVar |
PMID:7723957 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24207122 PMID:25741868 PMID:28106320 PMID:28166811 PMID:28492532 PMID:31420593 PMID:32579787 More...
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NCBI chr 2:149,674,300...149,722,875
Ensembl chr 2:149,674,448...149,722,865
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G |
HSPB1 |
heat shock protein family B (small) member 1 |
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ISO |
ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 |
ClinVar |
PMID:18344398 PMID:18832141 PMID:21892769 PMID:23948568 PMID:25220807 PMID:25429913 PMID:25741868 PMID:26467025 PMID:27816334 PMID:28000086 PMID:28379183 PMID:28492532 PMID:28797631 More...
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NCBI chr 3:10,038,074...10,039,441
Ensembl chr 3:10,037,949...10,039,704
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G |
HSPB8 |
heat shock protein family B (small) member 8 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2A |
OMIM ClinVar |
PMID:1517763 PMID:15122253 PMID:17344846 PMID:20538880 PMID:21985219 PMID:25741868 PMID:26467025 PMID:26718575 PMID:26986878 PMID:28144995 PMID:28251916 PMID:28492532 PMID:29029362 PMID:32376792 More...
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NCBI chr14:33,626,125...33,639,824
Ensembl chr14:33,626,120...33,640,792
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G |
MPZ |
myelin protein zero |
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ISO |
ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 |
ClinVar |
PMID:9452091 PMID:10071056 PMID:10329755 PMID:10764043 PMID:10835936 PMID:10923043 PMID:11080237 PMID:12207153 PMID:12911457 PMID:12948789 PMID:15159512 PMID:15377707 PMID:16279991 PMID:16775239 PMID:18337304 PMID:19629567 PMID:19928689 PMID:20461396 PMID:24819634 PMID:25720167 PMID:25741868 PMID:26234237 PMID:26467025 PMID:28492532 PMID:29687021 PMID:31211173 PMID:31827005 PMID:32298515 PMID:33179255 PMID:33825325 PMID:34060689 PMID:34210210 PMID:36350884 PMID:37581289 More...
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NCBI chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925
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G |
FKRP |
fukutin related protein |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2B |
ClinVar |
PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16344347 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:20961759 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28112097 PMID:28479227 PMID:28492532 PMID:30232282 PMID:30564623 PMID:30919934 PMID:31268217 PMID:32914449 PMID:34008892 PMID:34653404 More...
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NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,471...52,639,253
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G |
HSPB1 |
heat shock protein family B (small) member 1 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2B |
OMIM ClinVar |
PMID:2814495 PMID:9536098 PMID:11528513 PMID:15122254 PMID:16087758 PMID:16155736 PMID:16215937 PMID:16368711 PMID:17576681 PMID:17623484 PMID:17881652 PMID:18325928 PMID:18344398 PMID:18587268 PMID:18832141 PMID:20178975 PMID:20660910 PMID:21149811 PMID:21785432 PMID:21892769 PMID:21971574 PMID:22031878 PMID:22057845 PMID:22176143 PMID:22484489 PMID:22734906 PMID:23379525 PMID:23530264 PMID:23643870 PMID:23728742 PMID:23948568 PMID:23963299 PMID:24505562 PMID:24607769 PMID:24719117 PMID:25025039 PMID:25220807 PMID:25429913 PMID:25614874 PMID:25741868 PMID:25965061 PMID:25999205 PMID:26077850 PMID:26141737 PMID:26467025 PMID:26675522 PMID:26752306 PMID:26986878 PMID:26989944 PMID:27816334 PMID:27830184 PMID:28000086 PMID:28105056 PMID:28144995 PMID:28286897 PMID:28379183 PMID:28492532 PMID:28547731 PMID:28595321 PMID:28702508 PMID:28797631 PMID:28828227 PMID:29031079 PMID:29048431 PMID:29330367 PMID:29381233 PMID:29547183 PMID:29858556 PMID:30669930 PMID:30758704 PMID:31069529 PMID:31573509 PMID:31630804 PMID:32301006 PMID:32323160 PMID:32334137 PMID:32376792 PMID:33509756 PMID:33644875 PMID:33686258 PMID:33943041 PMID:35328016 PMID:36291591 More...
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NCBI chr 3:10,038,074...10,039,441
Ensembl chr 3:10,037,949...10,039,704
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G |
HSPB3 |
heat shock protein family B (small) member 3 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2C |
OMIM ClinVar |
PMID:8972725 PMID:20142617 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28771244 PMID:31785789 PMID:32397312 More...
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NCBI chr16:33,716,458...33,717,402
Ensembl chr16:33,716,626...33,719,018
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G |
BSCL2 |
BSCL2 lipid droplet biogenesis associated, seipin |
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ISO |
ClinVar Annotator: match by term: DHMN VA | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A |
ClinVar |
PMID:1674639 PMID:5964029 PMID:11479539 PMID:14557463 PMID:14981520 PMID:15126564 PMID:15732094 PMID:16427281 PMID:16574104 PMID:17387721 PMID:17486577 PMID:18585921 PMID:18612770 PMID:18690553 PMID:18790819 PMID:19226263 PMID:19396477 PMID:20598714 PMID:20806400 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23553728 PMID:23963299 PMID:23989774 PMID:24345054 PMID:24604904 PMID:25219579 PMID:25454168 PMID:25487175 PMID:25588603 PMID:25741868 PMID:25832430 PMID:26467025 PMID:26815532 PMID:26989944 PMID:27027447 PMID:27144933 PMID:27738760 PMID:27862672 PMID:28362824 PMID:28492532 PMID:29269637 PMID:29525178 PMID:31372974 PMID:31475473 PMID:31824185 PMID:32320108 PMID:32397312 PMID:34085946 PMID:34232518 PMID:34942918 PMID:35351089 More...
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NCBI chr 2:9,052,676...9,064,890
Ensembl chr 2:9,052,070...9,064,886
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G |
GARS1 |
glycyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: DHMN VA | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A |
OMIM ClinVar |
PMID:8541851 PMID:9879677 PMID:12690580 PMID:16014653 PMID:16534118 PMID:16769947 PMID:17035524 PMID:17101916 PMID:17545306 PMID:17595294 PMID:17663003 PMID:19329989 PMID:20301420 PMID:23279345 PMID:24354524 PMID:24604904 PMID:24627108 PMID:25058219 PMID:25168514 PMID:25476837 PMID:25614874 PMID:25635128 PMID:25741868 PMID:26244500 PMID:26392352 PMID:26467025 PMID:26503042 PMID:27008886 PMID:27582484 PMID:27790088 PMID:27862672 PMID:28160950 PMID:28251916 PMID:28492532 PMID:28594869 PMID:29520015 PMID:29648643 PMID:29858556 PMID:30643024 PMID:31591847 PMID:31628756 PMID:31827005 PMID:31832804 PMID:31985473 PMID:32028661 PMID:32376792 PMID:32909314 PMID:33381078 PMID:34813128 PMID:37091313 PMID:37273706 PMID:39825153 More...
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NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162
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PNPO |
pyridoxamine 5'-phosphate oxidase |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A |
ClinVar |
PMID:24266778 PMID:24645144 PMID:24658933 PMID:24781210 PMID:25741868 PMID:25762494 PMID:28492532 More...
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NCBI chr12:24,192,848...24,201,419
Ensembl chr12:24,192,897...24,201,411
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REEP1 |
receptor accessory protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 3:58,436,319...58,558,943
Ensembl chr 3:58,436,324...58,558,934
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FBXO38 |
F-box protein 38 |
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ISO |
ClinVar Annotator: match by term: FBXO38-related condition | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2D |
OMIM ClinVar |
PMID:7723957 PMID:24207122 PMID:25741868 PMID:28492532 PMID:31420593 PMID:32579787 More...
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NCBI chr 2:149,674,300...149,722,875
Ensembl chr 2:149,674,448...149,722,865
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CCDC138 |
coiled-coil domain containing 138 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr 3:47,470,649...47,525,606
Ensembl chr 3:47,470,709...47,523,529
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EDAR |
ectodysplasin A receptor |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784
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GCC2 |
GRIP and coiled-coil domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr 3:47,718,251...47,759,060
Ensembl chr 3:47,718,254...47,758,999
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LIMS1 |
LIM zinc finger domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr 3:47,607,737...47,704,921
Ensembl chr 3:47,606,230...47,672,884
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LOC100511376 |
E3 SUMO-protein ligase RanBP2 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495
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LOC100623441 |
sulfotransferase 1C4 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr 3:47,765,022...47,777,178
Ensembl chr 3:47,766,407...47,776,867
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SLC5A7 |
solute carrier family 5 member 7 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia |
OMIM ClinVar |
PMID:7420092 PMID:9536098 PMID:11294660 PMID:15173594 PMID:16199547 PMID:17576681 PMID:23141292 PMID:25741868 PMID:27569547 PMID:28492532 PMID:33250374 PMID:36703223 PMID:36840359 PMID:39135055 More...
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NCBI chr 3:47,994,116...48,020,744
Ensembl chr 3:47,996,335...48,022,379
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SULT1C2 |
sulfotransferase family 1C member 2 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr 3:47,807,830...47,824,199
Ensembl chr 3:47,807,832...47,824,187
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SULT1C3 |
sulfotransferase family 1C member 3 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr 3:47,838,671...47,864,646
Ensembl chr 3:47,838,558...47,856,943
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TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant congenital benign spinal muscular atrophy | ClinVar Annotator: match by term: Distal spinal muscular atrophy, congenital nonprogressive | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 8 |
OMIM ClinVar |
PMID:4056805 PMID:8179305 PMID:10463355 PMID:15668982 PMID:17879966 PMID:19232556 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21115951 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21658220 PMID:21964574 PMID:22065612 PMID:22291064 PMID:22419508 PMID:22526352 PMID:22675077 PMID:22689196 PMID:22702953 PMID:22851605 PMID:24575025 PMID:24789864 PMID:24793135 PMID:24963089 PMID:25256292 PMID:25741868 PMID:25900305 PMID:26048687 PMID:26110311 PMID:26377240 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27549087 PMID:27751652 PMID:28251916 PMID:28492532 PMID:28687525 PMID:28898540 PMID:29212899 PMID:29776788 PMID:29858556 PMID:30230566 PMID:30373780 PMID:31041394 PMID:31191204 PMID:31475037 PMID:32376792 PMID:32381727 PMID:32579787 PMID:33060286 PMID:33303739 PMID:34008892 PMID:37091313 PMID:39033378 PMID:39825153 More...
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NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578
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WARS1 |
tryptophanyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IX | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 9 |
OMIM ClinVar |
PMID:25741868 PMID:28369220 PMID:31069783 PMID:31321409 |
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NCBI chr 7:121,212,981...121,238,144
Ensembl chr 7:121,212,981...121,238,113
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