|
G |
Bicd2 |
BICD cargo adaptor 2 |
|
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...
|
|
NCBI chrNW_004955515:5,060,176...5,105,298
Ensembl chrNW_004955515:5,061,005...5,103,179
|
|
G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
|
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:32788638 More...
|
|
NCBI chrNW_004955538:1,388,595...1,458,166
Ensembl chrNW_004955538:1,390,137...1,458,025
|
|
G |
Fig4 |
FIG4 phosphoinositide 5-phosphatase |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant |
ClinVar |
|
|
NCBI chrNW_004955411:3,135,752...3,217,891
|
|
G |
Gars1 |
glycyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant |
ClinVar |
PMID:17101916 PMID:20301420 PMID:22462675 PMID:25168514 |
|
NCBI chrNW_004955410:31,778,654...31,819,287
Ensembl chrNW_004955410:31,779,543...31,819,113
|
|
G |
Ighmbp2 |
immunoglobulin mu DNA binding protein 2 |
|
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:26467025 PMID:26709713 PMID:27450922 PMID:28403181 PMID:28492532 PMID:29761130 PMID:30598237 PMID:31020813 PMID:31211173 More...
|
|
NCBI chrNW_004955422:17,017,855...17,047,724
Ensembl chrNW_004955422:17,017,358...17,048,650
|
|
G |
Lmna |
lamin A/C |
|
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...
|
|
NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
|
|
G |
Morc2 |
MORC family CW-type zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant |
ClinVar |
PMID:26659848 PMID:28492532 PMID:31475037 |
|
NCBI chrNW_004955455:5,124,737...5,164,495
Ensembl chrNW_004955455:5,124,737...5,164,495
|
|
G |
Nefl |
neurofilament light chain |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant |
ClinVar |
|
|
NCBI chrNW_004955403:47,946,413...47,951,734
Ensembl chrNW_004955403:47,946,353...47,952,026
|
|
G |
Setx |
senataxin |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant |
ClinVar |
PMID:19696032 PMID:22088787 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chrNW_004955513:1,718,432...1,776,133
Ensembl chrNW_004955513:1,718,377...1,777,021
|
|
G |
Trpv4 |
transient receptor potential cation channel subfamily V member 4 |
|
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...
|
|
NCBI chrNW_004955455:8,744,865...8,781,644
Ensembl chrNW_004955455:8,744,176...8,783,741
|
|
|
G |
Ighmbp2 |
immunoglobulin mu DNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 1 |
ClinVar |
PMID:14681881 PMID:25439726 PMID:25568292 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004955422:17,017,855...17,047,724
Ensembl chrNW_004955422:17,017,358...17,048,650
|
|
|
G |
Emilin1 |
elastin microfibril interfacer 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 10 |
OMIM ClinVar |
PMID:26462740 PMID:31978608 |
|
NCBI chrNW_004955469:9,049,666...9,057,692
Ensembl chrNW_004955469:9,049,662...9,057,684
|
|
|
G |
Sptan1 |
spectrin alpha, non-erythrocytic 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, 11, autosomal dominant |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31332438 PMID:33206935 PMID:33578420 |
|
NCBI chrNW_004955570:1,016,510...1,076,499
Ensembl chrNW_004955570:1,016,510...1,076,499
|
|
|
G |
Bicd2 |
BICD cargo adaptor 2 |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B |
ClinVar |
PMID:24002164 PMID:28492532 |
|
NCBI chrNW_004955515:5,060,176...5,105,298
Ensembl chrNW_004955515:5,061,005...5,103,179
|
|
G |
Reep1 |
receptor accessory protein 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B |
OMIM ClinVar |
PMID:16826527 PMID:18321925 PMID:18644145 PMID:19034539 PMID:20718791 PMID:22703882 PMID:24478229 PMID:25741868 PMID:26467025 PMID:28492532 PMID:34193129 More...
|
|
NCBI chrNW_004955424:1,369,490...1,425,611
Ensembl chrNW_004955424:1,369,490...1,425,605
|
|
|
G |
Bscl2 |
BSCL2 lipid droplet biogenesis associated, seipin |
|
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:14981520 PMID:15126564 PMID:15732094 PMID:16427281 PMID:16574104 PMID:17387721 PMID:17486577 PMID:18585921 PMID:18790819 PMID:19226263 PMID:19396477 PMID:20301391 PMID:20598714 PMID:20806400 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23142943 PMID:23292937 PMID:23553728 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:27738760 PMID:27862672 PMID:28362824 PMID:28492532 PMID:31372974 PMID:31475473 PMID:32320108 PMID:32397312 More...
|
|
NCBI chrNW_004955599:505,725...514,225
Ensembl chrNW_004955599:507,501...514,151
|
|
|
G |
Dctn1 |
dynactin subunit 1 |
|
ISO |
ClinVar Annotator: match by term: LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE | 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:19279216 PMID:19506225 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:28166811 PMID:28430856 PMID:28492532 PMID:28518168 PMID:28792508 PMID:29525180 PMID:32028661 PMID:32402491 PMID:32461654 PMID:33369814 PMID:33973882 More...
|
|
NCBI chrNW_004955424:11,362,240...11,413,140
Ensembl chrNW_004955424:11,392,812...11,413,140
|
|
G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:25635128 |
|
NCBI chrNW_004955538:1,388,595...1,458,166
Ensembl chrNW_004955538:1,390,137...1,458,025
|
|
G |
Gars1 |
glycyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:25635128 |
|
NCBI chrNW_004955410:31,778,654...31,819,287
Ensembl chrNW_004955410:31,779,543...31,819,113
|
|
G |
Mfn2 |
mitofusin 2 |
|
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...
|
|
NCBI chrNW_004955486:1,937,873...1,962,577
Ensembl chrNW_004955486:1,937,802...1,962,772
|
|
G |
Mpz |
myelin protein zero |
|
ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:7693129 PMID:20571287 PMID:25694466 PMID:28492532 |
|
NCBI chrNW_004955468:13,041,911...13,047,026
Ensembl chrNW_004955468:13,041,011...13,047,284
|
|
G |
Nefl |
neurofilament light chain |
|
ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chrNW_004955403:47,946,413...47,951,734
Ensembl chrNW_004955403:47,946,353...47,952,026
|
|
G |
Plekhg5 |
pleckstrin homology and RhoGEF domain containing G5 |
|
ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:16728649 PMID:17564964 |
|
NCBI chrNW_004955486:6,099,654...6,121,805
Ensembl chrNW_004955486:6,107,024...6,121,356
|
|
G |
Scn11a |
sodium voltage-gated channel alpha subunit 11 |
|
ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:24776970 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004955427:24,917,709...25,109,499
Ensembl chrNW_004955427:24,989,615...25,109,550
|
|
G |
Setx |
senataxin |
|
ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:24533459 |
|
NCBI chrNW_004955513:1,718,432...1,776,133
Ensembl chrNW_004955513:1,718,377...1,777,021
|
|
G |
Sh3tc2 |
SH3 domain and tetratricopeptide repeats 2 |
|
ISO |
ClinVar Annotator: match by term: Genetic motor neuron disease |
ClinVar |
PMID:26467025 PMID:28492532 |
|
NCBI chrNW_004955415:5,286,475...5,354,880
Ensembl chrNW_004955415:5,303,311...5,355,672
|
|
G |
Trpv4 |
transient receptor potential cation channel subfamily V member 4 |
|
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...
|
|
NCBI chrNW_004955455:8,744,865...8,781,644
Ensembl chrNW_004955455:8,744,176...8,783,741
|
|
|
G |
Fbxo38 |
F-box protein 38 |
|
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:28166811 PMID:28492532 PMID:31420593 PMID:32579787 More...
|
|
NCBI chrNW_004955415:5,841,269...5,888,830
Ensembl chrNW_004955415:5,841,038...5,889,110
|
|
G |
Hspb8 |
heat shock protein family B (small) member 8 |
|
ISO |
ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 | 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:28251916 PMID:28492532 PMID:32376792 More...
|
|
NCBI chrNW_004955455:12,290,884...12,304,588
Ensembl chrNW_004955455:12,290,587...12,304,656
|
|
G |
Mpz |
myelin protein zero |
|
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:25720167 PMID:25741868 PMID:26234237 PMID:26467025 PMID:28492532 PMID:29687021 PMID:31211173 PMID:31827005 More...
|
|
NCBI chrNW_004955468:13,041,911...13,047,026
Ensembl chrNW_004955468:13,041,011...13,047,284
|
|
|
G |
Hspb1 |
heat shock protein family B (small) member 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2B |
OMIM ClinVar |
PMID:9536098 PMID:11528513 PMID:15122254 PMID:16087758 PMID:16155736 PMID:16215937 PMID:16368711 PMID:17576681 PMID:17623484 PMID:17881652 PMID:18325928 PMID:18587268 PMID:18832141 PMID:20178975 PMID:20660910 PMID:21149811 PMID:21785432 PMID:21971574 PMID:22031878 PMID:22057845 PMID:22176143 PMID:22484489 PMID:22734906 PMID:23379525 PMID:23530264 PMID:23643870 PMID:23728742 PMID:23963299 PMID:24505562 PMID:24607769 PMID:24719117 PMID:25025039 PMID:25220807 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:28105056 PMID:28144995 PMID:28286897 PMID:28492532 PMID:28547731 PMID:28595321 PMID:28702508 PMID:29031079 PMID:29048431 PMID:29330367 PMID:29381233 PMID:29547183 PMID:30669930 PMID:30758704 PMID:31069529 PMID:31573509 PMID:31630804 PMID:32301006 PMID:32323160 PMID:32334137 PMID:32376792 PMID:33509756 PMID:33943041 PMID:35328016 PMID:36291591 More...
|
|
NCBI chrNW_004955844:8,094...9,565
Ensembl chrNW_004955844:7,790...10,004
|
|
|
G |
Hspb3 |
heat shock protein family B (small) member 3 |
|
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:32397312 More...
|
|
NCBI chrNW_004955446:13,113,854...13,114,599
Ensembl chrNW_004955446:13,113,984...13,114,442
|
|
|
G |
Bscl2 |
BSCL2 lipid droplet biogenesis associated, seipin |
|
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: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:31372974 PMID:31475473 PMID:32320108 More...
|
|
NCBI chrNW_004955599:505,725...514,225
Ensembl chrNW_004955599:507,501...514,151
|
|
G |
Gars1 |
glycyl-tRNA synthetase 1 |
|
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:32376792 PMID:32909314 PMID:33381078 More...
|
|
NCBI chrNW_004955410:31,778,654...31,819,287
Ensembl chrNW_004955410:31,779,543...31,819,113
|
|
G |
Pnpo |
pyridoxamine 5'-phosphate oxidase |
|
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...
|
|
NCBI chrNW_004955451:13,184,861...13,190,933
Ensembl chrNW_004955451:13,183,826...13,191,707
|
|
G |
Reep1 |
receptor accessory protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chrNW_004955424:1,369,490...1,425,611
Ensembl chrNW_004955424:1,369,490...1,425,605
|
|
|
G |
Fbxo38 |
F-box protein 38 |
|
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...
|
|
NCBI chrNW_004955415:5,841,269...5,888,830
Ensembl chrNW_004955415:5,841,038...5,889,110
|
|
|
G |
Ccdc138 |
coiled-coil domain containing 138 |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955470:12,249,279...12,305,099
Ensembl chrNW_004955470:12,251,682...12,305,973
|
|
G |
Edar |
ectodysplasin A receptor |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955470:12,310,680...12,362,555
Ensembl chrNW_004955470:12,309,048...12,362,570
|
|
G |
Gcc2 |
GRIP and coiled-coil domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955470:12,011,606...12,053,625
Ensembl chrNW_004955470:12,011,708...12,055,907
|
|
G |
Lims1 |
LIM zinc finger domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955470:12,142,997...12,158,273
|
|
G |
Ranbp2 |
RAN binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955470:12,180,426...12,247,737
Ensembl chrNW_004955470:12,180,544...12,249,555
|
|
G |
Slc5a7 |
solute carrier family 5 member 7 |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
OMIM ClinVar |
PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 PMID:23141292 PMID:25741868 PMID:27569547 PMID:28492532 More...
|
|
NCBI chrNW_004955470:11,673,491...11,694,404
Ensembl chrNW_004955470:11,673,465...11,697,163
|
|
|
G |
Trpv4 |
transient receptor potential cation channel subfamily V member 4 |
|
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:24963089 PMID:25256292 PMID:25326637 PMID:25741868 PMID:25900305 PMID:26048687 PMID:26110311 PMID:26377240 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27549087 PMID:27751652 PMID:28166811 PMID:28251916 PMID:28492532 PMID:28687525 PMID:28898540 PMID:29776788 PMID:29858556 PMID:30230566 PMID:30373780 PMID:31041394 PMID:31191204 PMID:31475037 PMID:32376792 PMID:32381727 PMID:32579787 PMID:33060286 PMID:34008892 More...
|
|
NCBI chrNW_004955455:8,744,865...8,781,644
Ensembl chrNW_004955455:8,744,176...8,783,741
|
|
|
G |
Wars1 |
tryptophanyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 9 |
OMIM ClinVar |
PMID:25741868 PMID:28369220 PMID:31069783 PMID:31321409 |
|
NCBI chrNW_004955438:21,414,878...21,445,417
Ensembl chrNW_004955438:21,414,815...21,445,042
|
|