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G |
App |
amyloid beta precursor protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16122394 PMID:18762355 PMID:21706413 PMID:22952840 PMID:28915354 PMID:33290254 PMID:34902447 More...
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NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
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G |
Atp7a |
ATPase copper transporting alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22815746 |
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NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
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G |
Bche |
butyrylcholinesterase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:122883 PMID:910611 PMID:1218179 PMID:1734774 PMID:4319258 PMID:4347326 PMID:4362560 PMID:4728581 PMID:5021954 PMID:21228368 More...
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NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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G |
Chrnd |
cholinergic receptor nicotinic delta subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18694773 |
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NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
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G |
Ins2 |
insulin 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:7433326 |
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NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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G |
Mog |
myelin oligodendrocyte glycoprotein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23547115 |
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NCBI chr20:1,513,137...1,523,473
Ensembl chr20:1,513,239...1,523,474
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G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15696051 |
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NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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G |
Pygm |
glycogen phosphorylase, muscle associated |
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IEP |
mRNA, protein:decreased expression:skeletal muscle |
RGD |
PMID:8769807 |
RGD:1599993 |
NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368
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G |
Sirt1 |
sirtuin 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:23547115 |
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NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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G |
Sod1 |
superoxide dismutase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29434186 |
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NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Trpm7 |
transient receptor potential cation channel, subfamily M, member 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24291744 |
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NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190
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G |
Unc45b |
unc-45 myosin chaperone B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17189627 |
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NCBI chr10:67,845,464...67,873,143
Ensembl chr10:67,845,462...67,873,389
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G |
Dnajc19 |
DnaJ heat shock protein family (Hsp40) member C19 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 |
ClinVar |
PMID:16055927 PMID:27928778 PMID:28492532 |
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NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
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G |
Opa3 |
outer mitochondrial membrane lipid metabolism regulator OPA3 |
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ISO ISS |
OMIM:258501 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 |
OMIM MouseDO CTD ClinVar |
PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 PMID:17576681 PMID:18985435 PMID:20301646 PMID:20350831 PMID:23700088 PMID:24136862 PMID:24749080 PMID:25159689 PMID:25201222 PMID:25205859 PMID:25741868 PMID:26190011 PMID:27528516 PMID:27629047 PMID:28081242 PMID:28492532 More...
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NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469 Ensembl chr 1:78,880,114...78,901,469
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G |
Atp1a2 |
ATPase Na+/K+ transporting subunit alpha 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alternating hemiplegia of childhood |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
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G |
Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:104290 | OMIM:614820 ClinVar Annotator: match by term: Alternating hemiplegia of childhood DNA:missense mutations:exon:multiple |
CTD MouseDO ClinVar RGD |
PMID:22842232 PMID:24033266 PMID:24631656 PMID:25741868 PMID:24431296 |
RGD:11576279 |
NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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G |
Atp1a2 |
ATPase Na+/K+ transporting subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1 |
OMIM ClinVar |
PMID:9536098 PMID:11439943 PMID:12023326 PMID:14667076 PMID:15159495 PMID:15174025 PMID:15286158 PMID:16437583 PMID:17473835 PMID:17576681 PMID:17877748 PMID:18056581 PMID:18414213 PMID:18957371 PMID:19372756 PMID:19874388 PMID:20301562 PMID:20837964 PMID:21533730 PMID:23821026 PMID:24921013 PMID:25741868 PMID:26467025 PMID:27790126 PMID:28492532 PMID:28717674 PMID:30423015 PMID:31737037 PMID:34384358 More...
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NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
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G |
Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Alternating hemiplegia of childhood 2 |
OMIM ClinVar |
PMID:8733056 PMID:9536098 PMID:11061257 PMID:12112218 PMID:15260953 PMID:15390049 PMID:16199547 PMID:16632466 PMID:17282997 PMID:17516473 PMID:17576681 PMID:17595045 PMID:18414213 PMID:19652145 PMID:20301294 PMID:20576601 PMID:21911500 PMID:22534615 PMID:22842232 PMID:22850527 PMID:22924536 PMID:23409136 PMID:23483595 PMID:24100174 PMID:24123283 PMID:24431296 PMID:24468074 PMID:24523486 PMID:24631656 PMID:24793181 PMID:24842602 PMID:24983657 PMID:24996492 PMID:25056583 PMID:25447930 PMID:25523819 PMID:25656163 PMID:25681536 PMID:25741868 PMID:25895915 PMID:25996915 PMID:26297560 PMID:26400718 PMID:26410222 PMID:26417536 PMID:26453127 PMID:26467025 PMID:26633545 PMID:26993267 PMID:27146299 PMID:27268479 PMID:27626066 PMID:27634470 PMID:27726050 PMID:28293679 PMID:28441826 PMID:28492532 PMID:28500446 PMID:28637637 PMID:28647130 PMID:28849312 PMID:28901192 PMID:29066118 PMID:29302074 PMID:29305691 PMID:29397530 PMID:29915382 PMID:30071271 PMID:30657467 PMID:31425744 PMID:31616254 PMID:31942761 PMID:32454213 PMID:32581362 PMID:34008892 PMID:34342181 PMID:35047275 More...
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NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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G |
Nek9 |
NIMA-related kinase 9 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy |
OMIM CTD ClinVar |
PMID:25741868 PMID:26633546 PMID:28492532 |
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NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538
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G |
Fanci |
FA complementation group I |
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ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 |
ClinVar |
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
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NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:632821 PMID:1858914 PMID:2067633 PMID:2725645 PMID:11431686 PMID:11571332 PMID:11897778 PMID:12073019 PMID:12210792 PMID:12565911 PMID:12872260 PMID:14467368 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15258572 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16595552 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16896309 PMID:16929381 PMID:16940310 PMID:16943369 PMID:17088268 PMID:17310215 PMID:17420318 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17725985 PMID:17846414 PMID:17894835 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18446447 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20185557 PMID:20220442 PMID:20227526 PMID:20301791 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20843780 PMID:20883824 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21357833 PMID:21455106 PMID:21484424 PMID:21515089 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21696159 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22166854 PMID:22189570 PMID:22237560 PMID:22342071 PMID:22470557 PMID:22494076 PMID:22537151 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23783014 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24272679 PMID:24331360 PMID:24398692 PMID:24508722 PMID:24642831 PMID:24725338 PMID:25025039 PMID:25118206 PMID:25193669 PMID:25281868 PMID:25286830 PMID:25340760 PMID:25356970 PMID:25462018 PMID:25488682 PMID:25497598 PMID:25585994 PMID:25713120 PMID:25741868 PMID:25850945 PMID:25914719 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26169155 PMID:26357557 PMID:26467025 PMID:26554610 PMID:26557169 PMID:26607151 PMID:26735972 PMID:26755490 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27422324 PMID:27450679 PMID:27822509 PMID:27838477 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28206745 PMID:28337550 PMID:28430993 PMID:28444220 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28837072 PMID:28865037 PMID:28901595 PMID:29029963 PMID:29190809 PMID:29272804 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29655203 PMID:29712893 PMID:29913018 PMID:29920680 PMID:29992832 PMID:29997391 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30306720 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30637288 PMID:30818899 PMID:30843307 PMID:30860128 PMID:31085725 PMID:31147703 PMID:31164858 PMID:31475037 PMID:31521625 PMID:31571979 PMID:31589614 PMID:31658717 PMID:31669236 PMID:31980526 PMID:32042919 PMID:32161153 PMID:32234506 PMID:32445240 PMID:33233646 PMID:33469851 PMID:33473333 PMID:33486010 PMID:33600046 PMID:33726816 PMID:34782754 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Twnk |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 |
ClinVar |
PMID:11431692 PMID:18575922 PMID:18971204 PMID:20659899 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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G |
Slc25a4 |
solute carrier family 25 member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 |
OMIM CTD ClinVar |
PMID:8644740 PMID:10364542 PMID:10926541 PMID:11756613 PMID:12112115 PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:26467025 PMID:27693233 PMID:28492532 PMID:28823815 PMID:29654543 PMID:33923309 More...
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NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
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G |
Twnk |
twinkle mtDNA helicase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 |
OMIM CTD ClinVar |
PMID:1634620 PMID:10522883 PMID:11431692 PMID:12163192 PMID:12707443 PMID:12872260 PMID:15668446 PMID:17614277 PMID:18575922 PMID:18973250 PMID:19084593 PMID:19353676 PMID:19428252 PMID:19513767 PMID:20301746 PMID:20479361 PMID:20659899 PMID:21689831 PMID:24014582 PMID:24018892 PMID:24076137 PMID:24086434 PMID:25133958 PMID:25355836 PMID:25741868 PMID:25989649 PMID:26206283 PMID:26467025 PMID:26970254 PMID:27551684 PMID:28178980 PMID:28454995 PMID:28492532 PMID:28812649 PMID:29458409 PMID:30496414 PMID:30799093 PMID:31271879 PMID:31852434 PMID:32619254 PMID:33095980 PMID:34409151 More...
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NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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G |
Milr1 |
mast cell immunoglobulin-like receptor 1 |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 |
ClinVar |
PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 PMID:27592148 PMID:28078310 PMID:28492532 PMID:29625556 PMID:30157269 More...
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NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282
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G |
Polg2 |
DNA polymerase gamma 2, accessory subunit |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 |
OMIM CTD ClinVar |
PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 PMID:27592148 PMID:28078310 PMID:28492532 PMID:29625556 PMID:30157269 More...
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NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
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G |
Rrm2b |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 |
OMIM CTD ClinVar |
PMID:17486094 PMID:19664747 PMID:21378381 PMID:21646632 PMID:23107649 PMID:24741716 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28812649 More...
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NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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G |
Fanci |
FA complementation group I |
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ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 |
ClinVar |
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
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NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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G |
Kcnq3 |
potassium voltage-gated channel subfamily Q member 3 |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 |
ClinVar |
PMID:23020937 PMID:23934111 PMID:25326637 PMID:25740509 PMID:25741868 PMID:26350515 PMID:26582918 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879 PMID:34356170 More...
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NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
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G |
Pms2 |
PMS1 homolog 2, mismatch repair system component |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 |
ClinVar |
PMID:10199405 PMID:11574484 PMID:25326637 PMID:25741868 PMID:25980754 PMID:26249686 PMID:28492532 PMID:30653781 More...
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NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 |
OMIM ClinVar |
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 PMID:11555352 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16896309 PMID:16919951 PMID:16940310 PMID:17088268 PMID:17418573 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195149 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20843780 PMID:20883824 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21357833 PMID:21484424 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22189570 PMID:22334187 PMID:22342071 PMID:22494076 PMID:22537151 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:25118206 PMID:25193669 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25742477 PMID:25914719 PMID:25940035 PMID:26095671 PMID:26104464 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26735972 PMID:26742794 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:29029963 PMID:29341116 PMID:29358615 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29588995 PMID:29655203 PMID:29997391 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30487145 PMID:30637288 PMID:30818899 PMID:30843307 PMID:30860128 PMID:30936349 PMID:31085725 PMID:31571979 PMID:31589614 PMID:31645654 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31762033 PMID:31980526 PMID:32042919 PMID:32234506 PMID:32445240 PMID:32567010 PMID:33046616 PMID:33233646 PMID:33396418 PMID:33473333 PMID:33486010 PMID:33726816 PMID:34008892 PMID:34782754 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Rnaseh1 |
ribonuclease H1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 |
OMIM CTD ClinVar |
PMID:25741868 PMID:26094573 PMID:28492532 PMID:28508084 |
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NCBI chr 6:45,282,849...45,292,258
Ensembl chr 6:45,282,854...45,292,236
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G |
Tk2 |
thymidine kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 |
OMIM CTD ClinVar |
PMID:12655576 PMID:12682338 PMID:15907288 PMID:18819985 PMID:19265691 PMID:21937588 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29602790 More...
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NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924
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G |
Dguok |
deoxyguanosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 |
OMIM CTD ClinVar |
PMID:11983456 PMID:16908739 PMID:17073823 PMID:17452231 PMID:18205204 PMID:19125351 PMID:23043144 PMID:24423689 PMID:25741868 PMID:26874653 PMID:28492532 PMID:28493820 PMID:28902392 PMID:29137425 PMID:29228108 PMID:30283818 PMID:30393377 PMID:30589726 PMID:30956829 PMID:31664448 More...
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NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733
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Top3a |
DNA topoisomerase III alpha |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29290614 |
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NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559
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G |
Ppia |
peptidylprolyl isomerase A |
exacerbates |
ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:32149981 |
RGD:150429625 |
NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
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G |
Eya1 |
EYA transcriptional coactivator and phosphatase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15493068 |
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NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
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G |
Fanci |
FA complementation group I |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia |
ClinVar |
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
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NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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Kcnq3 |
potassium voltage-gated channel subfamily Q member 3 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia |
ClinVar |
PMID:23020937 PMID:23934111 PMID:25326637 PMID:25740509 PMID:25741868 PMID:26350515 PMID:26582918 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879 PMID:34356170 More...
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NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
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Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia |
ClinVar |
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 PMID:11555352 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16896309 PMID:16940310 PMID:17088268 PMID:17418573 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20843780 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21357833 PMID:21484424 PMID:21515089 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22006280 PMID:22189570 PMID:22334187 PMID:22342071 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:25118206 PMID:25193669 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25742477 PMID:25940035 PMID:26095671 PMID:26104464 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26735972 PMID:26742794 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:29029963 PMID:29341116 PMID:29358615 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29588995 PMID:29655203 PMID:29997391 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30487145 PMID:30637288 PMID:30818899 PMID:30843307 PMID:30936349 PMID:31085725 PMID:31571979 PMID:31589614 PMID:31645654 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31762033 PMID:31980526 PMID:32042919 PMID:32234506 PMID:32445240 PMID:33046616 PMID:33233646 PMID:33396418 PMID:33473333 PMID:33486010 PMID:33726816 PMID:34008892 PMID:34782754 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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Gdap1 |
ganglioside-induced differentiation-associated-protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis | ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive |
OMIM CTD ClinVar |
PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 PMID:12707075 PMID:14561495 PMID:15019704 PMID:15805163 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:20301641 PMID:20301711 PMID:20849849 PMID:21365284 PMID:21519004 PMID:21840889 PMID:25231362 PMID:25741868 PMID:26467025 PMID:26848201 PMID:27549087 PMID:28492532 PMID:32376792 PMID:33187793 PMID:33477664 More...
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NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
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G |
Lrsam1 |
leucine rich repeat and sterile alpha motif containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22781092 PMID:27686364 |
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NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
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G |
Il1a |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Milr1 |
mast cell immunoglobulin-like receptor 1 |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions |
ClinVar |
PMID:21555342 PMID:25741868 PMID:28492532 |
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NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human) CTD Direct Evidence: marker/mechanism DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human) DNA:mutations:cds: DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human) |
CTD RGD |
PMID:17923349 PMID:11431686 PMID:17420318 PMID:16401742 PMID:12565911 PMID:12975295 More...
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RGD:737726, RGD:8694204, RGD:8694183, RGD:8694170, RGD:8694163 |
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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Polg2 |
DNA polymerase gamma 2, accessory subunit |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions |
ClinVar |
PMID:21555342 PMID:25741868 PMID:28492532 |
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NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
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G |
Rrm2b |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions |
ClinVar |
PMID:21646632 PMID:21951382 PMID:23107649 PMID:24741716 PMID:25741868 PMID:28492532 PMID:32161153 More...
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NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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G |
Slc25a4 |
solute carrier family 25 member 4 |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions |
ClinVar RGD |
PMID:12565915 PMID:15792871 |
RGD:1580622, RGD:1580620 |
NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
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G |
Sod1 |
superoxide dismutase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11907800 |
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NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11907800 PMID:14680979 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Twnk |
twinkle mtDNA helicase |
susceptibility |
ISO |
DNA:mutations ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions |
ClinVar RGD |
PMID:11431692 PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 PMID:18971204 PMID:19513767 PMID:20479361 PMID:20659899 PMID:20880070 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28812649 PMID:32161153 PMID:11431692 More...
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RGD:1600544 |
NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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G |
Tubb6 |
tubulin, beta 6 class V |
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ISO |
ClinVar Annotator: match by term: Facial palsy, congenital, with ptosis and velopharyngeal dysfunction |
OMIM ClinVar |
PMID:25741868 PMID:29016863 |
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NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418
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G |
Kif21a |
kinesin family member 21A |
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ISS ISO |
OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219 ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles | ClinVar Annotator: match by term: OPHTHALMOPLEGIA, CONGENITAL |
MouseDO ClinVar |
PMID:14595441 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 PMID:19551685 PMID:24656932 PMID:25741868 PMID:28492532 More...
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NCBI chr 7:122,062,523...122,179,051
Ensembl chr 7:122,062,537...122,178,999
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G |
Tuba1a |
tubulin, alpha 1A |
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ISO |
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles |
ClinVar |
PMID:25741868 |
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NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
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G |
Tubb3 |
tubulin, beta 3 class III |
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ISS ISO |
OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219 ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles |
MouseDO ClinVar |
PMID:25741868 |
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NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
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G |
Kif21a |
kinesin family member 21A |
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ISO |
DNA:missense mutation:CDS:2860C>T (p.R954W) (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b | ClinVar Annotator: match by term: KIF21A-related condition |
CTD ClinVar OMIM RGD |
PMID:10922204 PMID:14595441 PMID:15223798 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 PMID:19551685 PMID:24656932 PMID:25741868 PMID:28492532 PMID:14595441 More...
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RGD:1600402 |
NCBI chr 7:122,062,523...122,179,051
Ensembl chr 7:122,062,537...122,178,999
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G |
Phox2a |
paired-like homeobox 2a |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 2 |
OMIM CTD ClinVar |
PMID:11600883 PMID:25741868 |
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NCBI chr 1:156,178,754...156,183,118
Ensembl chr 1:156,178,754...156,183,118
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G |
Tubb3 |
tubulin, beta 3 class III |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: FEOM3 LOCUS | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | ClinVar Annotator: match by term: TUBB3-Related Disorder | ClinVar Annotator: match by term: TUBB3-related tubulinopathy |
OMIM CTD ClinVar |
PMID:2133536 PMID:7724178 PMID:10393037 PMID:12073023 PMID:15223798 PMID:18414213 PMID:20074521 PMID:20301522 PMID:20829227 PMID:23378218 PMID:24257358 PMID:24612975 PMID:25131622 PMID:25482575 PMID:25741868 PMID:26639658 PMID:26775887 PMID:27046833 PMID:28492532 PMID:28677066 PMID:29269699 PMID:29382549 PMID:29453417 PMID:29706646 PMID:31219644 PMID:31226147 PMID:32573066 PMID:34652576 PMID:34863918 More...
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NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
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G |
Col25a1 |
collagen type XXV alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 5 |
OMIM CTD ClinVar |
PMID:25500261 PMID:25741868 PMID:31875546 |
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NCBI chr 2:218,755,152...219,154,348
Ensembl chr 2:218,755,691...219,153,501
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G |
Fxr1 |
FMR1 autosomal homolog 1 |
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ISO |
ClinVar Annotator: match by term: Multiminicore myopathy |
ClinVar |
PMID:25741868 PMID:30770808 |
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NCBI chr 2:116,884,167...116,937,590
Ensembl chr 2:116,884,248...116,937,590
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G |
Ryr1 |
ryanodine receptor 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:16940 PMID:18253 PMID:1329581 PMID:1510267 PMID:1639409 PMID:1743490 PMID:1774073 PMID:1774074 PMID:1862346 PMID:3356401 PMID:7299413 PMID:7511586 PMID:7547049 PMID:7586638 PMID:7633940 PMID:7751854 PMID:7762556 PMID:7889656 PMID:8401544 PMID:8602662 PMID:8828983 PMID:9334205 PMID:9389851 PMID:9450902 PMID:9497245 PMID:9520251 PMID:9536098 PMID:9873004 PMID:10051009 PMID:10097181 PMID:10352931 PMID:10484775 PMID:10756965 PMID:10823104 PMID:10888602 PMID:11274444 PMID:11448278 PMID:11493496 PMID:11553045 PMID:11575529 PMID:11668625 PMID:11709545 PMID:11741831 PMID:12059893 PMID:12123492 PMID:12124989 PMID:12136074 PMID:12151923 PMID:12208234 PMID:12237752 PMID:12411786 PMID:12411788 PMID:12434264 PMID:12642598 PMID:12700608 PMID:12709367 PMID:12719381 PMID:12732639 PMID:12937085 PMID:14500992 PMID:14670767 PMID:14732627 PMID:14985404 PMID:15175001 PMID:15210166 PMID:15221887 PMID:15299003 PMID:15448513 PMID:15731587 PMID:16163667 PMID:16199547 PMID:16244001 PMID:16272262 PMID:16372898 PMID:16380615 PMID:16621918 PMID:16732084 PMID:16732090 PMID:16835904 PMID:16917943 PMID:16940308 PMID:16958617 PMID:17033962 PMID:17081152 PMID:17226826 PMID:17365175 PMID:17483490 PMID:17538032 PMID:17576681 PMID:17667581 PMID:17710899 PMID:17968765 PMID:18171678 PMID:18193641 PMID:18253926 PMID:18414213 PMID:18502356 PMID:18564801 PMID:18719443 PMID:18813041 PMID:19191329 PMID:19191333 PMID:19223216 PMID:19346234 PMID:19513315 PMID:19645060 PMID:19648156 PMID:19807743 PMID:19825159 PMID:19931341 PMID:20080402 PMID:20142353 PMID:20301325 PMID:20566647 PMID:20583297 PMID:20681998 PMID:20839240 PMID:20888934 PMID:20952238 PMID:20981092 PMID:21062345 PMID:21157159 PMID:21455645 PMID:21503806 PMID:21514828 PMID:21674524 PMID:21795085 PMID:21825032 PMID:21878807 PMID:21911697 PMID:21918424 PMID:21965348 PMID:22030266 PMID:22203976 PMID:22415532 PMID:22418739 PMID:22473935 PMID:22705209 PMID:22734812 PMID:22851008 PMID:22913516 PMID:22992668 PMID:22995991 PMID:23035052 PMID:23069638 PMID:23183335 PMID:23204524 PMID:23308296 PMID:23329375 PMID:23394784 PMID:23459219 PMID:23460944 PMID:23476141 PMID:23478172 PMID:23553484 PMID:23553787 PMID:23558838 PMID:23628358 PMID:23826317 PMID:23842196 PMID:23919265 PMID:24033266 PMID:24055113 PMID:24088041 PMID:24091937 PMID:24195946 PMID:24215330 PMID:24361844 PMID:24433488 PMID:24561095 PMID:24627108 PMID:24950660 PMID:24951453 PMID:24961629 PMID:25084811 PMID:25086907 PMID:25214167 PMID:25256590 PMID:25268394 PMID:25326635 PMID:25428687 PMID:25461839 PMID:25466363 PMID:25476234 PMID:25517095 PMID:25525159 PMID:25614869 PMID:25635128 PMID:25637381 PMID:25658027 PMID:25683120 PMID:25735680 PMID:25741868 PMID:25747005 PMID:25957634 PMID:25958340 PMID:25960145 PMID:25985138 PMID:25987458 PMID:25989378 PMID:26019235 PMID:26332594 PMID:26467025 PMID:26565425 PMID:26633545 PMID:26841830 PMID:26951757 PMID:26994242 PMID:27005958 PMID:27058611 PMID:27066551 PMID:27147545 PMID:27153395 PMID:27159402 PMID:27353517 PMID:27363342 PMID:27382027 PMID:27431030 PMID:27447704 PMID:27558158 PMID:27586648 PMID:27646467 PMID:27663056 PMID:27854218 PMID:28003660 PMID:28007021 PMID:28224104 PMID:28259615 PMID:28269792 PMID:28326467 PMID:28357410 PMID:28403410 PMID:28492532 PMID:28496993 PMID:28527222 PMID:28687594 PMID:28818389 PMID:29169929 PMID:29172004 PMID:29178655 PMID:29298851 PMID:29344738 PMID:29382405 PMID:29417091 PMID:29556213 PMID:29629541 PMID:29635721 PMID:29792937 PMID:30122538 PMID:30155738 PMID:30236257 PMID:30325262 PMID:30406384 PMID:30499100 PMID:30609409 PMID:30611313 PMID:30724636 PMID:30788618 PMID:30827497 PMID:30842289 PMID:30864471 PMID:31016048 PMID:31055738 PMID:31127727 PMID:31135626 PMID:31165076 PMID:31206373 PMID:31304636 PMID:31447099 PMID:31517061 PMID:31559918 PMID:31680349 PMID:31742715 PMID:31903994 PMID:31994743 PMID:32054689 PMID:32098966 PMID:32236737 PMID:32403337 PMID:32528171 PMID:32665702 PMID:33146414 PMID:33333461 PMID:33458582 PMID:33490280 PMID:33564012 PMID:33646171 PMID:33767344 PMID:34000440 PMID:34008892 PMID:34463354 PMID:34528764 PMID:34535181 PMID:34809703 PMID:35285867 PMID:35428369 PMID:35535697 PMID:35599849 PMID:36208971 More...
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NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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G |
Ttn |
titin |
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ISO |
ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Multiminicore myopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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G |
Fancg |
FA complementation group G |
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ISO |
ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant |
ClinVar |
PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 PMID:28492532 More...
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NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
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G |
Gas7 |
growth arrest specific 7 |
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ISO |
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia |
ClinVar |
PMID:28492532 |
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NCBI chr10:52,152,718...52,383,283
Ensembl chr10:52,152,493...52,383,276
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G |
Glp2r |
glucagon-like peptide 2 receptor |
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ISO |
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia |
ClinVar |
PMID:28492532 |
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NCBI chr10:52,402,748...52,466,012
Ensembl chr10:52,402,748...52,466,012
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G |
Myh1 |
myosin heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia |
ClinVar |
PMID:28492532 |
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NCBI chr10:51,885,913...51,909,699
Ensembl chr10:51,885,913...51,946,295
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G |
Myh13 |
myosin heavy chain 13 |
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ISO |
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia |
ClinVar |
PMID:28492532 |
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NCBI chr10:52,012,779...52,068,960
Ensembl chr10:52,009,425...52,068,951
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G |
Myh2 |
myosin heavy chain 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia |
OMIM CTD ClinVar |
PMID:9536098 PMID:11114175 PMID:11889243 PMID:15548556 PMID:15741996 PMID:16130113 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 PMID:20418530 PMID:22349865 PMID:22406018 PMID:23388406 PMID:23489661 PMID:24033266 PMID:24193343 PMID:25617006 PMID:25640679 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29934118 PMID:31127727 PMID:31321302 PMID:31407473 PMID:32578970 PMID:33250842 More...
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NCBI chr10:51,856,738...51,883,236
Ensembl chr10:51,856,738...51,883,236
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G |
Myh3 |
myosin heavy chain 3 |
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ISO |
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia |
ClinVar |
PMID:28492532 |
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NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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G |
Myh4 |
myosin heavy chain 4 |
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ISO |
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia |
ClinVar |
PMID:28492532 |
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NCBI chr10:51,923,149...51,946,297
Ensembl chr10:51,885,913...51,946,295
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G |
Myh8 |
myosin heavy chain 8 |
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ISO |
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia |
ClinVar |
PMID:28492532 |
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NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
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G |
Rcvrn |
recoverin |
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ISO |
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia |
ClinVar |
PMID:28492532 |
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NCBI chr10:52,388,706...52,396,454
Ensembl chr10:52,388,706...52,396,453
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G |
Sco1 |
synthesis of cytochrome C oxidase 1 |
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ISO |
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia |
ClinVar |
PMID:28492532 |
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NCBI chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237
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G |
Vcp |
valosin-containing protein |
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ISO |
ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant |
ClinVar |
PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 PMID:28492532 More...
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NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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G |
Nos3 |
nitric oxide synthase 3 |
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IEP |
mRNA:decreased expression:pyloric antrum (rat) |
RGD |
PMID:29071981 |
RGD:13446417 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome |
OMIM CTD ClinVar |
PMID:1941966 PMID:8423615 PMID:8533802 PMID:11152147 PMID:15103714 PMID:23487782 PMID:24726473 PMID:25741868 PMID:27714920 PMID:28492532 PMID:31680123 PMID:32860008 PMID:32901917 More...
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NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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G |
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 chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
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G |
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 chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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G |
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 chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613
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G |
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 chr20:26,309,833...26,418,511
Ensembl chr20:26,309,895...26,418,500
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G |
Ranbp2 |
RAN binding protein 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 chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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G |
Slc5a7 |
solute carrier family 5 member 7 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
OMIM CTD ClinVar |
PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 PMID:23141292 PMID:25741868 PMID:27569547 PMID:28492532 More...
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NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258
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G |
Sult1c2a |
sulfotransferase family 1C member 2A |
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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 9:6,873,697...6,904,736
Ensembl chr 9:6,874,249...6,904,734
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G |
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 9:7,221,580...7,266,991
Ensembl chr 9:7,221,578...7,267,030
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G |
Dctn1 |
dynactin subunit 1 |
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ISO |
ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7B CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
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...
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NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
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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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NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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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 chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
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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 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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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 chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
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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 chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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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 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513
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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 chr 8:119,495,550...119,567,044
Ensembl chr 8:119,496,769...119,567,044
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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 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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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:28492532 |
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NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
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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 chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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G |
Atp5mc3 |
ATP synthase membrane subunit c locus 3 |
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ISO |
ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia |
OMIM ClinVar |
PMID:19006192 PMID:34636445 PMID:34954817 |
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NCBI chr 3:58,810,535...58,813,185
Ensembl chr 3:58,810,535...58,814,279
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G |
Mmp9 |
matrix metallopeptidase 9 |
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ISO |
associated with Herpes Simplex;mRNA, protein:increased expression:facial VII nucleus |
RGD |
PMID:23817985 |
RGD:8547852 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Pomc |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:4327920 |
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NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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G |
Dcc |
DCC netrin 1 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28250456 |
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NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740
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G |
Robo3 |
roundabout guidance receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
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G |
Robo3 |
roundabout guidance receptor 3 |
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ISO |
ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 |
OMIM ClinVar |
PMID:15105459 PMID:16525029 PMID:16772357 PMID:18829051 PMID:19041479 PMID:19633821 PMID:21850172 PMID:24969490 PMID:25326635 PMID:25741868 PMID:27318526 PMID:28024310 PMID:28492532 PMID:29215389 PMID:32373565 PMID:32580277 PMID:32860008 PMID:34374989 More...
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NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
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G |
Dcc |
DCC netrin 1 receptor |
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ISO |
ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2 |
OMIM ClinVar |
PMID:25741868 PMID:28250456 PMID:28492532 |
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NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740
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G |
Hmox1 |
heme oxygenase 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20378827 |
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NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Atp1a2 |
ATPase Na+/K+ transporting subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Hemiplegia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
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Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Hemiplegia |
ClinVar |
PMID:20301294 PMID:21911500 PMID:22842232 PMID:22850527 PMID:23409136 PMID:24100174 PMID:24523486 PMID:24631656 PMID:24842602 PMID:24996492 PMID:25447930 PMID:25681536 PMID:25741868 PMID:25996915 PMID:26410222 PMID:26993267 PMID:28293679 PMID:28492532 PMID:28637637 PMID:30071271 PMID:30657467 More...
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NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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Cga |
glycoprotein hormones, alpha polypeptide |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10566621 |
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NCBI chr 5:49,486,915...49,499,192
Ensembl chr 5:49,487,068...49,499,191
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Dsp |
desmoplakin |
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ISO |
ClinVar Annotator: match by term: Hemiplegia |
ClinVar |
PMID:21606396 PMID:23292937 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26230511 PMID:26656175 PMID:27153395 PMID:28492532 More...
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NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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Myh6 |
myosin heavy chain 6 |
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ISO |
ClinVar Annotator: match by term: Hemiplegia |
ClinVar |
PMID:15998695 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Hemiplegia/hemiparesis |
ClinVar |
PMID:25741868 |
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NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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Scn5a |
sodium voltage-gated channel alpha subunit 5 |
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ISO |
ClinVar Annotator: match by term: Hemiplegia |
ClinVar |
PMID:11804990 PMID:19056759 PMID:22581653 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31983221 More...
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NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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Hoxb1 |
homeo box B1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24239177 |
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NCBI chr10:81,331,507...81,332,928
Ensembl chr10:81,331,507...81,332,836
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Hoxb1 |
homeo box B1 |
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ISO |
ClinVar Annotator: match by term: Facial paresis, hereditary congenital, 3 |
OMIM ClinVar |
PMID:22770981 PMID:25741868 PMID:26007620 PMID:26467025 PMID:27144914 PMID:28492532 More...
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NCBI chr10:81,331,507...81,332,928
Ensembl chr10:81,331,507...81,332,836
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Als2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis | ClinVar Annotator: match by term: Spastic paralysis, infantile onset ascending |
OMIM CTD ClinVar |
PMID:9536098 PMID:11586297 PMID:11586298 PMID:12145748 PMID:12509863 PMID:12919135 PMID:14676054 PMID:16199547 PMID:16718699 PMID:17576681 PMID:18523452 PMID:18852346 PMID:20077034 PMID:22152675 PMID:23881933 PMID:24315819 PMID:24562058 PMID:25174650 PMID:25302125 PMID:25363768 PMID:25558820 PMID:25588603 PMID:25741868 PMID:26257771 PMID:26467025 PMID:26742954 PMID:27159321 PMID:27601211 PMID:27790088 PMID:28160950 PMID:28407358 PMID:28430856 PMID:28492532 PMID:28600779 PMID:28709720 PMID:28714951 PMID:28832565 PMID:29605155 PMID:30054184 PMID:30128655 PMID:30224357 PMID:30581417 PMID:31182772 PMID:31405128 PMID:32214227 PMID:33409823 PMID:33589474 PMID:34011629 More...
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NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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Mpp4 |
MAGUK p55 scaffold protein 4 |
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ISO |
ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis |
ClinVar |
PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 |
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NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797
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Tmem237 |
transmembrane protein 237 |
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ISO |
ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis |
ClinVar |
PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 |
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NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
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Abhd16a |
abhydrolase domain containing 16A, phospholipase |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Complex hereditary spastic paraplegia |
ClinVar |
PMID:25741868 |
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NCBI chr20:3,719,089...3,733,952
Ensembl chr20:3,719,091...3,733,927
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Adam28 |
ADAM metallopeptidase domain 28 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
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NCBI chr15:43,774,463...43,840,726
Ensembl chr15:42,944,467...43,840,672
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Aldh18a1 |
aldehyde dehydrogenase 18 family, member A1 |
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ISO |
DNA:mutations:cds: ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:26026163 |
RGD:13434921 |
NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890
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Als2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:9536098 PMID:14676054 PMID:17576681 PMID:18852346 PMID:20077034 PMID:23881933 PMID:25174650 PMID:25363768 PMID:25558820 PMID:25741868 PMID:26257771 PMID:26467025 PMID:27790088 PMID:28407358 PMID:28492532 PMID:28714951 PMID:28832565 PMID:31182772 PMID:34011629 More...
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NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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Ampd2 |
adenosine monophosphate deaminase 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28492532 PMID:28832565 |
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NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271
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Ap4b1 |
adaptor related protein complex 4 subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:18414213 PMID:22290197 PMID:24700674 PMID:24781758 PMID:25167861 PMID:25741868 PMID:26544806 PMID:28492532 PMID:28832565 PMID:29193663 PMID:32979048 PMID:33594065 More...
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NCBI chr 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531
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Ap4e1 |
adaptor related protein complex 4 subunit epsilon 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:18414213 PMID:25741868 PMID:26350204 PMID:26544806 PMID:28492532 |
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NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752
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Ap4m1 |
adaptor related protein complex 4 subunit mu 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:24700674 PMID:25326635 PMID:25496299 PMID:25558065 PMID:25741868 PMID:28492532 PMID:28832565 PMID:32979048 More...
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NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
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Ap4s1 |
adaptor related protein complex 4 subunit sigma 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:18414213 PMID:25741868 PMID:26350204 PMID:28492532 |
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NCBI chr 6:69,133,403...69,174,488
Ensembl chr 6:69,133,373...69,175,496
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Ap5b1 |
adaptor related protein complex 5 subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28832565 |
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NCBI chr 1:202,876,272...202,880,303
Ensembl chr 1:202,876,272...202,880,289
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Ap5z1 |
adaptor related protein complex 5 subunit zeta 1 |
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ISO |
DNA:mutations: : ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
ClinVar RGD |
PMID:9536098 PMID:17576681 PMID:20613862 PMID:24033266 PMID:24833714 PMID:24926664 PMID:25333062 PMID:25741868 PMID:26467025 PMID:27606357 PMID:28492532 PMID:28832565 PMID:20613862 More...
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RGD:9684952 |
NCBI chr12:12,093,834...12,109,043
Ensembl chr12:12,093,834...12,108,511
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Arhgap9 |
Rho GTPase activating protein 9 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28832565 |
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NCBI chr 7:63,148,573...63,157,025
Ensembl chr 7:63,148,900...63,157,524
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Arsi |
arylsulfatase family, member I |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28492532 PMID:28832565 |
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NCBI chr18:54,364,160...54,371,772
Ensembl chr18:54,364,088...54,371,767
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Atl1 |
atlastin GTPase 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
ClinVar |
PMID:8252041 PMID:11685207 PMID:14607301 PMID:15517445 PMID:15596607 PMID:15742100 PMID:16401858 PMID:16537571 PMID:16612642 PMID:17285536 PMID:17321752 PMID:17427918 PMID:17502470 PMID:19423133 PMID:19652243 PMID:20718791 PMID:20816793 PMID:20862796 PMID:20932283 PMID:20947813 PMID:21336785 PMID:21494555 PMID:22581552 PMID:23079343 PMID:23233086 PMID:23334294 PMID:23400676 PMID:24473461 PMID:24482476 PMID:24604904 PMID:25341883 PMID:25637064 PMID:25741868 PMID:25761634 PMID:26208798 PMID:26374131 PMID:26467025 PMID:27751653 PMID:28492532 PMID:29934652 PMID:29980238 PMID:30780198 PMID:31227335 PMID:31630374 PMID:31920481 PMID:32322428 PMID:32581362 PMID:34546351 PMID:34808209 More...
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NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204
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Bicd2 |
BICD cargo adaptor 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:23664116 PMID:25741868 PMID:26467025 PMID:27549087 PMID:28492532 PMID:28832565 More...
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NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
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Borcs7 |
BLOC-1 related complex subunit 7 |
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ISS |
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MouseDO |
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NCBI chr 1:245,564,347...245,578,182
Ensembl chr 1:245,564,369...245,579,343
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Bscl2 |
BSCL2 lipid droplet biogenesis associated, seipin |
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ISO |
SPG17, OMIM:270685, DNA:point mutation:exon:N88S ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia |
ClinVar RGD |
PMID:1674639 PMID:5964029 PMID:11479539 PMID:14981520 PMID:15126564 PMID:15732094 PMID:16427281 PMID:16574104 PMID:17387721 PMID:18585921 PMID:18790819 PMID:19396477 PMID:20598714 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23553728 PMID:23963299 PMID:24345054 PMID:25219579 PMID:25454168 PMID:25588603 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 PMID:28832565 PMID:30004997 PMID:13680364 More...
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RGD:1600602 |
NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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C1h19orf12 |
similar to human chromosome 19 open reading frame 12 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:21981780 PMID:23269600 PMID:24361204 PMID:25558065 PMID:25741868 PMID:27112773 PMID:28492532 PMID:28832565 PMID:31087512 PMID:31105013 More...
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NCBI chr 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208
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Cct5 |
chaperonin containing TCP1 subunit 5 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28492532 PMID:28832565 |
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NCBI chr 2:82,591,750...82,602,903
Ensembl chr 2:82,590,630...82,602,930
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Cep63 |
centrosomal protein 63 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28488683 |
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NCBI chr 8:103,162,639...103,214,177
Ensembl chr 8:103,162,700...103,214,177
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Cnnm2 |
cyclin and CBS domain divalent metal cation transport mediator 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286
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Cyp2u1 |
cytochrome P450, family 2, subfamily u, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:14660610 PMID:23176821 PMID:25741868 PMID:28492532 PMID:29034544 PMID:33107650 More...
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NCBI chr 2:219,849,403...219,866,959
Ensembl chr 2:219,849,407...219,866,882
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Cyp7b1 |
cytochrome P450 family 7 subfamily B member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
CTD ClinVar |
PMID:1943942 PMID:2411763 PMID:7987300 PMID:9536098 PMID:9802883 PMID:12874406 PMID:15007371 PMID:17576681 PMID:18252231 PMID:18367963 PMID:18855023 PMID:19187859 PMID:19363635 PMID:19439420 PMID:19812052 PMID:21214876 PMID:21541746 PMID:21567895 PMID:21623769 PMID:21966169 PMID:22384504 PMID:23812641 PMID:24033266 PMID:24117163 PMID:24340040 PMID:24641183 PMID:24658845 PMID:24927729 PMID:25326635 PMID:25525159 PMID:25741868 PMID:26370385 PMID:26467025 PMID:26714052 PMID:27077743 PMID:27217339 PMID:27879216 PMID:27879220 PMID:27957547 PMID:28039895 PMID:28492532 PMID:28832565 PMID:29126212 PMID:29228183 PMID:29246610 PMID:29980238 PMID:32202070 More...
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NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
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Dclre1b |
DNA cross-link repair 1B |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423
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Ddhd1 |
DDHD domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:23176821 PMID:24989667 PMID:25741868 PMID:26944165 PMID:27216551 PMID:28492532 More...
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NCBI chr15:18,824,389...18,891,036
Ensembl chr15:18,824,394...18,890,952
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Ddhd2 |
DDHD domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23176823 PMID:24337409 PMID:24517879 PMID:25417924 PMID:25558065 PMID:25741868 PMID:28492532 PMID:32488064 More...
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NCBI chr16:66,319,469...66,349,025
Ensembl chr16:66,319,466...66,349,023
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Dnajc16 |
DnaJ heat shock protein family (Hsp40) member C16 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
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NCBI chr 5:154,073,372...154,106,246
Ensembl chr 5:154,075,261...154,106,136
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Eif3j |
eukaryotic translation initiation factor 3, subunit J |
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ISO |
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
ClinVar |
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NCBI chr 3:108,985,103...109,007,341
Ensembl chr 3:108,985,118...109,007,953
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Entpd1 |
ectonucleoside triphosphate diphosphohydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
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Erlin1 |
ER lipid raft associated 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr 1:242,921,147...242,956,472
Ensembl chr 1:242,921,152...242,956,394
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Erlin2 |
ER lipid raft associated 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 PMID:28832565 PMID:32147972 |
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NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671
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Fa2h |
fatty acid 2-hydroxylase |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:18414213 PMID:24033266 PMID:24299421 PMID:24833714 PMID:25741868 PMID:26467025 PMID:27217339 PMID:27957547 PMID:28017243 PMID:28492532 PMID:30713878 PMID:31135052 PMID:31429931 PMID:32624042 PMID:33144682 PMID:35578252 More...
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NCBI chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153
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Fanci |
FA complementation group I |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:21880868 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:28492532 More...
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NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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Flrt1 |
fibronectin leucine rich transmembrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28832565 |
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NCBI chr 1:204,275,785...204,292,844
Ensembl chr 1:204,275,367...204,353,750
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Gad1 |
glutamate decarboxylase 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28492532 PMID:28832565 |
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NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333
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Gba2 |
glucosylceramidase beta 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:20593214 PMID:23332916 PMID:23332917 PMID:25741868 PMID:26220345 PMID:28492532 PMID:28832565 More...
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NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
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G |
Gjc2 |
gap junction protein, gamma 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:22351697 PMID:22833003 PMID:25741868 PMID:26467025 PMID:27860360 PMID:28492532 PMID:29906362 PMID:35807022 More...
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NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
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Hspd1 |
heat shock protein family D (Hsp60) member 1 |
susceptibility |
ISO |
DNA:missense mutation: :p.V72I ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
ClinVar RGD |
PMID:11898127 PMID:18414213 PMID:22552817 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27630992 PMID:28166811 PMID:28492532 PMID:28832565 PMID:11898127 More...
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RGD:1624200, RGD:1624200 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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Jak3 |
Janus kinase 3 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
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NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Kif1a |
kinesin family member 1A |
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ISO |
DNA:missense mutations: :p.V8M, p.I27T (human) ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
ClinVar RGD |
PMID:21376300 PMID:25265257 PMID:25585697 PMID:25741868 PMID:26077850 PMID:26125038 PMID:26354034 PMID:26410750 PMID:26467025 PMID:27034427 PMID:27681307 PMID:28492532 PMID:28554332 PMID:28832565 PMID:28970574 PMID:29159194 PMID:29590070 PMID:29691679 PMID:31488895 PMID:31796088 PMID:32096284 PMID:32860008 PMID:33880452 PMID:28362824 More...
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RGD:12911231 |
NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
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Kif1c |
kinesin family member 1C |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:26633545 PMID:28492532 PMID:28832565 PMID:29482223 More...
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NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545
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Kif5a |
kinesin family member 5A |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:15452312 PMID:18203753 PMID:18500496 PMID:18853458 PMID:21623771 PMID:25008398 PMID:25695920 PMID:25741868 PMID:26467025 PMID:26543653 PMID:28492532 PMID:28708278 PMID:28832565 PMID:29892902 PMID:31211173 PMID:31403080 PMID:31475037 More...
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NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
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Ky |
kyphoscoliosis peptidase |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28488683 |
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NCBI chr 8:103,086,959...103,126,305
Ensembl chr 8:103,086,630...103,126,024
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L1cam |
L1 cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:9195224 PMID:9268105 PMID:10797421 PMID:11438988 PMID:11772994 PMID:16760466 PMID:18414213 PMID:19846429 PMID:22222883 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30487145 More...
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NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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L2hgdh |
L-2-hydroxyglutarate dehydrogenase |
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ISO |
DNA:mutation:cds:c.241A4G(p.K81E)(human) |
RGD |
PMID:24573090 |
RGD:13506824 |
NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578
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Macrod1 |
mono-ADP ribosylhydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28832565 |
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NCBI chr 1:204,246,238...204,387,027
Ensembl chr 1:204,246,166...204,389,716
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Mag |
myelin-associated glycoprotein |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28492532 PMID:28832565 PMID:31402626 |
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NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656
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Mars1 |
methionyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28832565 |
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NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495
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Mcoln1 |
mucolipin TRP cation channel 1 |
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ISO |
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
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Milr1 |
mast cell immunoglobulin-like receptor 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 PMID:28492532 PMID:31286721 More...
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NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282
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Mtrfr |
mitochondrial translation release factor in rescue |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:32,261,569...32,275,258
Ensembl chr12:32,258,435...32,275,258
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Myt1 |
myelin transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
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NCBI chr 3:168,890,466...168,950,341
Ensembl chr 3:168,886,089...168,950,341
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Nipa1 |
NIPA magnesium transporter 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:15643603 PMID:15711826 PMID:16267846 PMID:17092466 PMID:17166836 PMID:18191948 PMID:19091982 PMID:19620182 PMID:20816793 PMID:21599812 PMID:22302102 PMID:24075313 PMID:24128679 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28832565 PMID:29934652 PMID:31104286 PMID:31630374 PMID:32500351 PMID:32581362 More...
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NCBI chr 1:106,834,000...106,875,148
Ensembl chr 1:106,834,000...106,874,790
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Nrg1 |
neuregulin 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
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NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
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Nt5c2 |
5'-nucleotidase, cytosolic II |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
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Pgap1 |
post-GPI attachment to proteins inositol deacylase 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:55,975,574...56,044,325
Ensembl chr 9:55,975,667...56,044,464
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Plekhg5 |
pleckstrin homology and RhoGEF domain containing G5 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
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NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513
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Plp1 |
proteolipid protein 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:10319897 PMID:15712223 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr X:100,184,039...100,201,035
Ensembl chr X:100,185,767...100,201,032
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Pnpla6 |
patatin-like phospholipase domain containing 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
CTD ClinVar |
PMID:3963113 PMID:8053762 PMID:18313024 PMID:20382209 PMID:20603202 PMID:23733235 PMID:24355708 PMID:25033069 PMID:25133958 PMID:25299038 PMID:25359264 PMID:25480986 PMID:25574898 PMID:25741868 PMID:26467025 PMID:26995604 PMID:27866050 PMID:28492532 PMID:29221171 PMID:29248984 PMID:30555943 PMID:30564185 PMID:31048186 PMID:31135245 PMID:33141049 More...
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NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia |
ClinVar |
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 PMID:11555352 PMID:11571332 PMID:12073019 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14557557 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15824347 PMID:15913923 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16715201 PMID:16857757 PMID:16896309 PMID:16929381 PMID:16940310 PMID:16943369 PMID:17088268 PMID:17418573 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19364868 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20176107 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21301859 PMID:21357833 PMID:21484424 PMID:21515089 PMID:21647632 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22114710 PMID:22189570 PMID:22237560 PMID:22342071 PMID:22357363 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22931735 PMID:22933815 PMID:22987704 PMID:22995991 PMID:23066759 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23448099 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24091540 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:25118206 PMID:25193669 PMID:25203713 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25488682 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25742477 PMID:25850945 PMID:25940035 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26735972 PMID:26742794 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27422324 PMID:27538604 PMID:27987238 PMID:28074849 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28901595 PMID:28958595 PMID:29029963 PMID:29190809 PMID:29341116 PMID:29358615 PMID:29431110 PMID:29474836 PMID:29588995 PMID:29655203 PMID:29992832 PMID:29997391 PMID:30167885 PMID:30255931 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30487145 PMID:30609409 PMID:30637288 PMID:30843307 PMID:30936349 PMID:30951992 PMID:31085725 PMID:31571979 PMID:31589614 PMID:31645654 PMID:31655921 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31980526 PMID:32234506 PMID:32348839 PMID:32445240 PMID:32502631 PMID:32964447 PMID:33233646 PMID:33396418 PMID:33473333 PMID:33486010 PMID:33671400 PMID:33726816 PMID:33791913 PMID:34008892 PMID:34690748 PMID:34782754 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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Polg2 |
DNA polymerase gamma 2, accessory subunit |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 PMID:28492532 PMID:31286721 More...
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NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
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Pqbp1 |
polyglutamine binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14634649 |
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NCBI chr X:14,603,516...14,608,091
Ensembl chr X:14,603,539...14,608,087
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Rab9b |
RAB9B, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:10319897 PMID:15712223 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr X:100,220,897...100,231,591
Ensembl chr X:100,220,894...100,231,701
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Reep1 |
receptor accessory protein 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:16199547 PMID:16826527 PMID:18321925 PMID:18644145 PMID:19034539 PMID:19072839 PMID:20718791 PMID:22703882 PMID:23400676 PMID:23812641 PMID:24478229 PMID:25525159 PMID:25741868 PMID:26201691 PMID:26467025 PMID:28492532 PMID:28832565 PMID:29629531 PMID:30637453 PMID:32581362 More...
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NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338
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Retreg1 |
reticulophagy regulator 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 |
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NCBI chr 2:76,335,609...76,474,817
Ensembl chr 2:76,335,609...76,493,898
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Rtn2 |
reticulon 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:78,935,056...78,948,069
Ensembl chr 1:78,935,104...78,948,069
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Sacs |
sacsin molecular chaperone |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
ClinVar |
PMID:10610707 PMID:10655055 PMID:11788093 PMID:14718706 PMID:15156359 PMID:18414213 PMID:18465152 PMID:19779133 PMID:19892370 PMID:20301432 PMID:20852969 PMID:20876471 PMID:21507954 PMID:21745802 PMID:22287014 PMID:22307627 PMID:23123642 PMID:23250129 PMID:23280630 PMID:23497566 PMID:24108619 PMID:24457356 PMID:25401298 PMID:25405613 PMID:25497598 PMID:25741868 PMID:25887915 PMID:26302956 PMID:26410750 PMID:26467025 PMID:26539891 PMID:27288452 PMID:27433545 PMID:27871429 PMID:27980752 PMID:28251916 PMID:28454995 PMID:28492532 PMID:28535259 PMID:28641335 PMID:28658401 PMID:28832565 PMID:29220673 PMID:29379980 PMID:29449188 PMID:29482223 PMID:29538656 PMID:29915382 PMID:30271475 PMID:30460542 PMID:30638817 PMID:30680480 PMID:30901567 PMID:31637422 PMID:31673878 PMID:33624863 PMID:34600502 PMID:36233161 More...
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NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
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Setx |
senataxin |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
ClinVar |
PMID:9536098 PMID:17096168 PMID:17159128 PMID:17576681 PMID:18058631 PMID:19569000 PMID:19696032 PMID:20981092 PMID:21190393 PMID:22088787 PMID:22995991 PMID:23129421 PMID:23881933 PMID:23941260 PMID:25174650 PMID:25382069 PMID:25741868 PMID:26467025 PMID:27013921 PMID:27790088 PMID:28130640 PMID:28492532 PMID:28642336 PMID:28832565 PMID:29411640 PMID:29650794 PMID:31957062 PMID:32253937 More...
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NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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Slc16a2 |
solute carrier family 16 member 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:18414213 PMID:20301789 PMID:23568789 PMID:24265446 PMID:24721225 PMID:25527620 PMID:25741868 PMID:27212794 PMID:28492532 PMID:28832565 More...
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NCBI chr X:68,725,365...68,848,572
Ensembl chr X:68,723,261...68,848,771
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Slc1a5 |
solute carrier family 1 member 5 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
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NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952
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Slc33a1 |
solute carrier family 33 member 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:24583203 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758
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Spart |
spartin |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:23699601 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 2:139,292,630...139,319,248
Ensembl chr 2:139,292,355...139,319,248
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Spast |
spastin |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia |
ClinVar |
PMID:9536098 PMID:10610178 PMID:10699187 PMID:11015453 PMID:11039577 PMID:11087788 PMID:11309678 PMID:11809724 PMID:11843700 PMID:12124993 PMID:12161613 PMID:12552568 PMID:15095758 PMID:15159500 PMID:15210521 PMID:15248095 PMID:15326248 PMID:15482961 PMID:15716377 PMID:15841487 PMID:16009769 PMID:16055926 PMID:16199547 PMID:16240363 PMID:16476945 PMID:16682546 PMID:16832076 PMID:17576681 PMID:17594340 PMID:17597328 PMID:17598600 PMID:17690846 PMID:17895902 PMID:17916079 PMID:17957230 PMID:17971434 PMID:18202664 PMID:18608088 PMID:18613979 PMID:18701882 PMID:19289482 PMID:19423133 PMID:19438933 PMID:19875132 PMID:20214791 PMID:20301339 PMID:20430936 PMID:20559269 PMID:20562464 PMID:20665701 PMID:20718791 PMID:20932283 PMID:21834905 PMID:21888932 PMID:22552817 PMID:22817815 PMID:22960362 PMID:23252998 PMID:23264559 PMID:23400676 PMID:24033003 PMID:24033266 PMID:24381312 PMID:24451228 PMID:24857849 PMID:25045380 PMID:25326637 PMID:25341883 PMID:25421405 PMID:25454648 PMID:25525159 PMID:25658484 PMID:25741868 PMID:25741869 PMID:26208798 PMID:26374131 PMID:26467025 PMID:26600529 PMID:26671083 PMID:27084228 PMID:27108959 PMID:27229699 PMID:27260292 PMID:27276562 PMID:27334366 PMID:27688599 PMID:27871443 PMID:27957547 PMID:28492532 PMID:28572275 PMID:28832565 PMID:29112992 PMID:29246610 PMID:29421991 PMID:29691679 PMID:29761117 PMID:29934652 PMID:29980238 PMID:30006150 PMID:30476002 PMID:30528841 PMID:30564185 PMID:30778698 PMID:31157359 PMID:31227335 PMID:31594988 PMID:31630374 PMID:31751864 PMID:31851166 PMID:32092540 PMID:33624935 PMID:34008892 PMID:34753439 More...
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NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
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Spg11 |
SPG11 vesicle trafficking associated, spatacsin |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17322883 PMID:17576681 PMID:17717710 PMID:18067136 PMID:18079167 PMID:18332254 PMID:18337587 PMID:18408091 PMID:18414213 PMID:18439221 PMID:18717728 PMID:18835492 PMID:19087158 PMID:19105190 PMID:19196735 PMID:19438933 PMID:19466474 PMID:20110243 PMID:20301389 PMID:22154821 PMID:22175763 PMID:22237444 PMID:22246010 PMID:22696581 PMID:23121729 PMID:23221952 PMID:23443022 PMID:23733235 PMID:24033266 PMID:24090761 PMID:24451228 PMID:24731568 PMID:24833714 PMID:25059394 PMID:25174650 PMID:25299611 PMID:25525159 PMID:25588603 PMID:25741868 PMID:26046366 PMID:26183056 PMID:26374131 PMID:26467025 PMID:26556829 PMID:26601740 PMID:26755014 PMID:27066562 PMID:27071356 PMID:27180005 PMID:27217339 PMID:27457812 PMID:27790088 PMID:27884173 PMID:27900367 PMID:27904835 PMID:27957547 PMID:28130640 PMID:28492532 PMID:28832565 PMID:29525178 PMID:29691679 PMID:29732542 PMID:29908077 PMID:29980238 PMID:30081747 PMID:30212743 PMID:30609409 PMID:30778698 PMID:31289639 PMID:31407473 PMID:32005694 PMID:32166880 PMID:32397312 PMID:32409511 PMID:32579787 PMID:32671691 PMID:33098801 PMID:33589474 PMID:33624863 PMID:35066644 PMID:35254204 PMID:35464835 PMID:36028943 PMID:36139378 More...
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NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
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Spg21 |
SPG21 abhydrolase domain containing, maspardin |
susceptibility |
ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar RGD |
PMID:14564668 PMID:16199547 PMID:25741868 PMID:26467025 PMID:28492532 PMID:14564668 More...
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RGD:1556574 |
NCBI chr 8:65,980,992...66,008,537
Ensembl chr 8:65,980,962...66,008,536
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Tecpr2 |
tectonin beta-propeller repeat containing 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia |
CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:23176824 PMID:25590979 PMID:25741868 PMID:27406698 PMID:28492532 PMID:29908077 PMID:30681437 PMID:32209221 PMID:32657593 PMID:33847017 More...
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NCBI chr 6:129,899,541...130,001,975
Ensembl chr 6:129,899,636...130,001,974
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Twnk |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:21689831 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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Usp50 |
ubiquitin specific peptidase 50 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 3:114,012,104...114,035,468
Ensembl chr 3:114,011,702...114,035,476
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Usp8 |
ubiquitin specific peptidase 8 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666
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Vps37a |
VPS37A subunit of ESCRT-I |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:51,736,170...51,775,384
Ensembl chr16:51,737,481...51,775,390
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Washc5 |
WASH complex subunit 5 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia |
ClinVar |
PMID:17160902 PMID:20301727 PMID:20833645 PMID:23085491 PMID:25741868 PMID:26467025 PMID:27957547 PMID:28492532 PMID:30896870 PMID:31227335 PMID:31911435 More...
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NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103
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Wdr48 |
WD repeat domain 48 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28832565 |
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NCBI chr 8:119,622,053...119,655,264
Ensembl chr 8:119,622,048...119,655,264
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Zfr |
zinc finger RNA binding protein |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr 2:61,137,611...61,200,322
Ensembl chr 2:61,137,611...61,200,322
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Zfyve26 |
zinc finger FYVE-type containing 26 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
ClinVar |
PMID:6944241 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18394578 PMID:19805727 PMID:19917823 PMID:24088041 PMID:24833714 PMID:25133958 PMID:25741868 PMID:26467025 PMID:26633545 PMID:28492532 PMID:28832565 PMID:29246610 PMID:31108397 More...
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NCBI chr 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480
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Atl1 |
atlastin GTPase 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204
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Erlin2 |
ER lipid raft associated 2 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
PMID:25741868 |
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NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671
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Hspd1 |
heat shock protein family D (Hsp60) member 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
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NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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Kif5a |
kinesin family member 5A |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant DNA:missense mutation:cds:p.R280C (human) DNA:missense mutation:cds:p.L259Q (human) DNA:missense mutation, nonsense mutation:cds:p.L249V, p.R864* (human) DNA:missense mutation:cds:p.R162W (human) DNA:missense mutation:cds:p.N256S (human) DNA:missense mutation, deletion, snp:cds:p.K253N, p.N256del c.217G>A (human) |
OMIM CTD ClinVar RGD |
PMID:9536098 PMID:12355402 PMID:15452312 PMID:16476820 PMID:16489470 PMID:17576681 PMID:18203753 PMID:18500496 PMID:18853458 PMID:21623771 PMID:22552817 PMID:22714410 PMID:24123792 PMID:24731568 PMID:25008398 PMID:25695920 PMID:25741868 PMID:26374131 PMID:26467025 PMID:26543653 PMID:28362824 PMID:28492532 PMID:28678816 PMID:28708278 PMID:28832565 PMID:29566793 PMID:29892902 PMID:29908077 PMID:29954873 PMID:31211173 PMID:31403080 PMID:31422367 PMID:31475037 PMID:22466687 PMID:15452312 PMID:24939576 PMID:26374131 PMID:25352184 PMID:12355402 PMID:18245137 More...
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RGD:12793060, RGD:12859091, RGD:12859090, RGD:12793069, RGD:12793068, RGD:12793065, RGD:12793061 |
NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
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Nipa1 |
NIPA magnesium transporter 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 | ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 1:106,834,000...106,875,148
Ensembl chr 1:106,834,000...106,874,790
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Reep1 |
receptor accessory protein 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
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NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338
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Rtn2 |
reticulon 2 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:78,935,056...78,948,069
Ensembl chr 1:78,935,104...78,948,069
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Slc33a1 |
solute carrier family 33 member 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
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NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758
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Spast |
spastin |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
PMID:26467025 PMID:28492532 |
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NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
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Washc5 |
WASH complex subunit 5 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
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NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103
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Zfyve27 |
zinc finger FYVE-type containing 27 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
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NCBI chr 1:240,979,831...241,003,193
Ensembl chr 1:240,979,842...241,003,193
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B2m |
beta-2 microglobulin |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Eif3j |
eukaryotic translation initiation factor 3, subunit J |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 |
ClinVar |
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NCBI chr 3:108,985,103...109,007,341
Ensembl chr 3:108,985,118...109,007,953
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Patl2 |
PAT1 homolog 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 |
ClinVar |
PMID:19105190 PMID:20110243 PMID:22154821 PMID:26556829 PMID:28492532 |
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NCBI chr 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253
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Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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Slc25a13 |
solute carrier family 25 member 13 |
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ISO |
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM |
ClinVar |
PMID:21507300 PMID:23053473 PMID:24069319 PMID:25741868 PMID:28492532 |
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NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902
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Spg11 |
SPG11 vesicle trafficking associated, spatacsin |
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ISO ISS |
OMIM:604360 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum |
OMIM MouseDO CTD ClinVar |
PMID:2223744 PMID:2795747 PMID:9536098 PMID:16199547 PMID:16773502 PMID:17322883 PMID:17576681 PMID:17717710 PMID:18067136 PMID:18079167 PMID:18332254 PMID:18337587 PMID:18361476 PMID:18408091 PMID:18414213 PMID:18439221 PMID:18586399 PMID:18663179 PMID:18717728 PMID:18835492 PMID:19087158 PMID:19105190 PMID:19194956 PMID:19196735 PMID:19438933 PMID:19466474 PMID:19513778 PMID:19763152 PMID:19917823 PMID:20110243 PMID:20301389 PMID:20307669 PMID:20390432 PMID:20571989 PMID:21035867 PMID:21381113 PMID:21625935 PMID:21896784 PMID:22154821 PMID:22175763 PMID:22237444 PMID:22246010 PMID:22406018 PMID:22696581 PMID:23043354 PMID:23121729 PMID:23221952 PMID:23438842 PMID:23443022 PMID:23733235 PMID:23812641 PMID:23881933 PMID:24033266 PMID:24090761 PMID:24451228 PMID:24482476 PMID:24731568 PMID:24833714 PMID:25059394 PMID:25174650 PMID:25299611 PMID:25326635 PMID:25525159 PMID:25588603 PMID:25640679 PMID:25741868 PMID:25769290 PMID:26046366 PMID:26064709 PMID:26183056 PMID:26374131 PMID:26467025 PMID:26539891 PMID:26556829 PMID:26601740 PMID:26633542 PMID:26671123 PMID:26742954 PMID:26755014 PMID:27016404 PMID:27066562 PMID:27071356 PMID:27077743 PMID:27084228 PMID:27180005 PMID:27217339 PMID:27256065 PMID:27318863 PMID:27457812 PMID:27544499 PMID:27790088 PMID:27884173 PMID:27900367 PMID:27904835 PMID:27957547 PMID:28119845 PMID:28130640 PMID:28160950 PMID:28492532 PMID:28554332 PMID:28832565 PMID:28991695 PMID:29246610 PMID:29342275 PMID:29389947 PMID:29525178 PMID:29691679 PMID:29732542 PMID:29908077 PMID:29946510 PMID:29949766 PMID:29980238 PMID:30212743 PMID:30363882 PMID:30373780 PMID:30564185 PMID:30609409 PMID:30778698 PMID:31227335 PMID:31289639 PMID:31407473 PMID:31475037 PMID:31589614 PMID:31692161 PMID:31900114 PMID:32005694 PMID:32007754 PMID:32166880 PMID:32214227 PMID:32397312 PMID:32409511 PMID:32579787 PMID:32638105 PMID:32671691 PMID:32729724 PMID:32860008 PMID:32989326 PMID:33059505 PMID:33084218 PMID:33098801 PMID:33144682 PMID:33414559 PMID:33430805 PMID:33589474 PMID:33624863 PMID:33669240 PMID:34153142 PMID:34906502 PMID:35047667 PMID:35254204 PMID:36028943 PMID:36139378 More...
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NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
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Tbr1 |
T-box brain transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Gait disturbance |
ClinVar |
PMID:25741868 |
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NCBI chr 3:46,350,237...46,368,397
Ensembl chr 3:46,351,213...46,361,041
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Trim69 |
tripartite motif-containing 69 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,111,468...109,135,255
Ensembl chr 3:109,111,468...109,132,037
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Rtn2 |
reticulon 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia 12 |
OMIM CTD ClinVar |
PMID:10677333 PMID:12427890 PMID:22232211 PMID:25741868 PMID:26467025 PMID:27165006 PMID:28492532 More...
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NCBI chr 1:78,935,056...78,948,069
Ensembl chr 1:78,935,104...78,948,069
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Hspd1 |
heat shock protein family D (Hsp60) member 1 |
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ISO ISS |
OMIM:605280 ClinVar Annotator: match by term: Hereditary spastic paraplegia 13 CTD Direct Evidence: marker/mechanism |
OMIM MouseDO ClinVar CTD RGD |
PMID:10677329 PMID:12483302 PMID:17420924 PMID:18414213 PMID:18571143 PMID:21520333 PMID:22552817 PMID:24033266 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:23466696 More...
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RGD:10402832 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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Zfyve26 |
zinc finger FYVE-type containing 26 |
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ISO ISS |
OMIM:270700 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 | ClinVar Annotator: match by term: Recessive spastic paraplegia with retinal degeneration |
OMIM MouseDO CTD ClinVar |
PMID:6944241 PMID:9536098 PMID:11342696 PMID:16199547 PMID:17576681 PMID:17661097 PMID:18098276 PMID:18394578 PMID:19805727 PMID:19917823 PMID:23733235 PMID:24088041 PMID:24833714 PMID:25133958 PMID:25497598 PMID:25525159 PMID:25741868 PMID:26467025 PMID:26492578 PMID:26633545 PMID:27217339 PMID:27544497 PMID:28492532 PMID:28832565 PMID:29246610 PMID:29858556 PMID:30555096 PMID:31108397 More...
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NCBI chr 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480
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Bscl2 |
BSCL2 lipid droplet biogenesis associated, seipin |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant spastic paraplegia type 17 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1674639 PMID:5964029 PMID:11479539 PMID:14981520 PMID:15126564 PMID:15732094 PMID:16427281 PMID:16574104 PMID:17387721 PMID:17486577 PMID:18585921 PMID:18790819 PMID:19396477 PMID:20598714 PMID:20806400 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23142943 PMID:23553728 PMID:24345054 PMID:24451228 PMID:24604904 PMID:25219579 PMID:25454168 PMID:25487175 PMID:25741868 PMID:25832430 PMID:26467025 PMID:26815532 PMID:26989944 PMID:27027447 PMID:27549087 PMID:27738760 PMID:27862672 PMID:28362824 PMID:28492532 PMID:31372974 PMID:31475473 More...
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NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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Son |
SON DNA and RNA binding protein |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 |
ClinVar |
PMID:25590979 PMID:25741868 PMID:25741875 PMID:27256762 PMID:27545676 PMID:27545680 PMID:28492532 PMID:34521999 More...
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NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167
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G |
Erlin2 |
ER lipid raft associated 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia 18 |
OMIM CTD ClinVar |
PMID:21330303 PMID:23109145 PMID:25741868 |
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NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671
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G |
Morf4l2 |
mortality factor 4 like 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 |
ClinVar |
PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 PMID:28492532 More...
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NCBI chr X:100,082,562...100,093,658
Ensembl chr X:100,082,404...100,093,728
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G |
Plp1 |
proteolipid protein 1 |
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ISO ISS |
OMIM:312920 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 |
OMIM MouseDO CTD ClinVar |
PMID:1384324 PMID:1720927 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 PMID:7488049 PMID:7522741 PMID:7531827 PMID:7539213 PMID:8012387 PMID:8320699 PMID:8659540 PMID:8723686 PMID:8786077 PMID:8956049 PMID:9056547 PMID:9106132 PMID:9247276 PMID:9427151 PMID:9489796 PMID:9536098 PMID:9633722 PMID:9634530 PMID:9934976 PMID:10319885 PMID:10319897 PMID:10417279 PMID:11093273 PMID:12601703 PMID:12910435 PMID:14452137 PMID:14745569 PMID:15450775 PMID:15712223 PMID:16199547 PMID:16287154 PMID:16380909 PMID:16844304 PMID:17438221 PMID:17576681 PMID:18160035 PMID:18414213 PMID:18470932 PMID:19328639 PMID:19825935 PMID:19955111 PMID:20022439 PMID:21679407 PMID:22016529 PMID:22343157 PMID:22695888 PMID:23344956 PMID:23347225 PMID:24088041 PMID:24139698 PMID:24519770 PMID:24890387 PMID:24936452 PMID:25741868 PMID:26125040 PMID:26467025 PMID:26633545 PMID:26786043 PMID:26795593 PMID:27535533 PMID:28366443 PMID:28492532 PMID:29451896 PMID:30314286 PMID:30337681 PMID:31448840 PMID:33504798 PMID:34782662 More...
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NCBI chr X:100,184,039...100,201,035
Ensembl chr X:100,185,767...100,201,032
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G |
Rab9b |
RAB9B, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 |
ClinVar |
PMID:1384324 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 PMID:7488049 PMID:7522741 PMID:7531827 PMID:8012387 PMID:8320699 PMID:8723686 PMID:8786077 PMID:8956049 PMID:9056547 PMID:9106132 PMID:9247276 PMID:9427151 PMID:9489796 PMID:9536098 PMID:9634530 PMID:9934976 PMID:10319897 PMID:10417279 PMID:11093273 PMID:12601703 PMID:12910435 PMID:14452137 PMID:14745569 PMID:15450775 PMID:15712223 PMID:16199547 PMID:16287154 PMID:16380909 PMID:16844304 PMID:17438221 PMID:17576681 PMID:18160035 PMID:18414213 PMID:18470932 PMID:19328639 PMID:19825935 PMID:19955111 PMID:20022439 PMID:21679407 PMID:22016529 PMID:22343157 PMID:22695888 PMID:23344956 PMID:23347225 PMID:24088041 PMID:24139698 PMID:24519770 PMID:24890387 PMID:24936452 PMID:25741868 PMID:26125040 PMID:26467025 PMID:26633545 PMID:26786043 PMID:26795593 PMID:27535533 PMID:28366443 PMID:28492532 PMID:29451896 PMID:30314286 PMID:30337681 PMID:33504798 PMID:34782662 More...
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NCBI chr X:100,220,897...100,231,591
Ensembl chr X:100,220,894...100,231,701
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G |
Spast |
spastin |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 |
ClinVar |
PMID:25741868 |
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NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
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G |
Tceal1 |
transcription elongation factor A like 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 |
ClinVar |
PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 PMID:28492532 More...
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NCBI chr X:100,058,485...100,060,439
Ensembl chr X:100,058,132...100,060,551
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G |
Tceal3 |
transcription elongation factor A like 3 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 |
ClinVar |
PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 PMID:28492532 More...
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NCBI chr X:100,010,677...100,012,637
Ensembl chr X:100,010,690...100,012,654
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G |
Dstyk |
dual serine/threonine and tyrosine protein kinase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia 23 |
OMIM CTD ClinVar |
PMID:25741868 PMID:28492532 PMID:33624863 |
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NCBI chr13:43,857,266...43,905,280
Ensembl chr13:43,857,266...43,905,269
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G |
B4galnt1 |
beta-1,4-N-acetyl-galactosaminyl transferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia 26 |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23746551 PMID:25741868 PMID:28492532 PMID:32214227 More...
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NCBI chr 7:62,988,429...62,996,190
Ensembl chr 7:62,988,930...62,996,190
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G |
Bmp4 |
bone morphogenetic protein 4 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 |
ClinVar |
PMID:28492532 |
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NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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G |
Ddhd1 |
DDHD domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 |
OMIM CTD ClinVar |
PMID:9536098 PMID:15786464 PMID:17576681 PMID:23176821 PMID:24989667 PMID:25741868 PMID:26944165 PMID:27216551 PMID:27999540 PMID:28492532 PMID:28818478 More...
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NCBI chr15:18,824,389...18,891,036
Ensembl chr15:18,824,394...18,890,952
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G |
Agxt |
alanine--glyoxylate aminotransferase |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336
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G |
Ankmy1 |
ankyrin repeat and MYND domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,423,664...93,476,651
Ensembl chr 9:93,423,963...93,477,236
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G |
Ano7 |
anoctamin 7 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,917,524...93,945,323
Ensembl chr 9:93,917,524...93,945,323
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G |
Aqp12a |
aquaporin 12A |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,554,527...93,560,011
Ensembl chr 9:93,554,527...93,560,011
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G |
Asb1 |
ankyrin repeat and SOCS box-containing 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:92,120,332...92,140,790
Ensembl chr 9:92,120,306...92,136,376
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G |
Atg4b |
autophagy related 4B, cysteine peptidase |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:94,282,417...94,314,109
Ensembl chr 9:94,282,509...94,314,103
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G |
Bok |
BCL2 family apoptosis regulator BOK |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:94,223,493...94,234,476
Ensembl chr 9:94,223,389...94,234,476
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G |
Capn10 |
calpain 10 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494
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G |
Col6a3 |
collagen type VI alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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G |
Cops9 |
COP9 signalosome subunit 9 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,209,843...93,214,774
Ensembl chr 9:93,209,843...93,213,317
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G |
D2hgdh |
D-2-hydroxyglutarate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382
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G |
Dtymk |
deoxythymidylate kinase |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:94,315,552...94,324,386
Ensembl chr 9:94,315,552...94,324,870
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G |
Dusp28 |
dual specificity phosphatase 28 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,472,832...93,474,207
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G |
Erfe |
erythroferrone |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:91,956,971...91,964,846
Ensembl chr 9:91,956,977...91,964,846
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G |
Espnl |
espin-like |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:91,912,038...91,936,803
Ensembl chr 9:91,912,049...91,935,292
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G |
Farp2 |
FERM, ARH/RhoGEF and pleckstrin domain protein 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:94,053,650...94,161,982
Ensembl chr 9:94,053,726...94,162,212
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G |
Gal3st2 |
galactose-3-O-sulfotransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:94,382,456...94,387,990
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G |
Gpc1 |
glypican 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,396,234...93,424,047
Ensembl chr 9:93,396,234...93,424,047
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G |
Gpr35 |
G protein-coupled receptor 35 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,527,165...93,539,573
Ensembl chr 9:93,527,127...93,539,299
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G |
Hdac4 |
histone deacetylase 4 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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G |
Hdlbp |
high density lipoprotein binding protein |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,948,099...94,018,040
Ensembl chr 9:93,949,913...94,018,048
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G |
Hes6 |
hes family bHLH transcription factor 6 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:92,001,849...92,003,562
Ensembl chr 9:92,001,841...92,003,559
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G |
Ilkap |
ILK associated serine/threonine phosphatase |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:91,966,440...91,988,791
Ensembl chr 9:91,966,441...91,988,892
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G |
Ing5 |
inhibitor of growth family, member 5 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:94,326,549...94,343,392
Ensembl chr 9:94,326,548...94,344,220
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G |
Kif1a |
kinesin family member 1A |
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ISO ISS |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive OMIM:610357 CTD Direct Evidence: marker/mechanism DNA:missense mutation: :p.A255V (human) DNA:missense mutations: :p.A255V, p.R350G (human) |
OMIM ClinVar MouseDO CTD RGD |
PMID:9536098 PMID:16081310 PMID:16199547 PMID:16434418 PMID:17576681 PMID:18414213 PMID:20020533 PMID:20691407 PMID:21376300 PMID:21384162 PMID:21487076 PMID:21820098 PMID:22258533 PMID:24088041 PMID:24715439 PMID:25140959 PMID:25253658 PMID:25265257 PMID:25326635 PMID:25533962 PMID:25585697 PMID:25640679 PMID:25741868 PMID:26077850 PMID:26125038 PMID:26350204 PMID:26354034 PMID:26410750 PMID:26467025 PMID:26486474 PMID:26633545 PMID:26752160 PMID:26994895 PMID:27034427 PMID:27124789 PMID:27146152 PMID:27681307 PMID:28106320 PMID:28333917 PMID:28362824 PMID:28492532 PMID:28554332 PMID:28708303 PMID:28832565 PMID:28834584 PMID:28970574 PMID:29159194 PMID:29590070 PMID:29691679 PMID:29915382 PMID:29934652 PMID:30144970 PMID:30385166 PMID:30564185 PMID:30848064 PMID:31227335 PMID:31455732 PMID:31488895 PMID:31616253 PMID:31628766 PMID:31785789 PMID:31796088 PMID:31805580 PMID:31813911 PMID:32096284 PMID:32746806 PMID:32860008 PMID:32935419 PMID:33753861 PMID:33880452 PMID:34354735 PMID:34356170 PMID:34487232 PMID:34782662 PMID:21487076 PMID:22258533 More...
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RGD:12911228, RGD:12911224 |
NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
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G |
Klhl30 |
kelch-like family member 30 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:91,942,475...91,952,756
Ensembl chr 9:91,942,504...91,952,730
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G |
Lrrfip1 |
LRR binding FLII interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:91,592,032...91,720,250
Ensembl chr 9:91,643,197...91,720,250
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G |
Mab21l4 |
mab-21 like 4 |
|
ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,690,455...93,701,267
Ensembl chr 9:93,690,999...93,700,506
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G |
Mlph |
melanophilin |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:91,507,410...91,542,984
Ensembl chr 9:91,507,591...91,542,983
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G |
Mterf4 |
mitochondrial transcription termination factor 4 |
|
ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,834,162...93,838,838
Ensembl chr 9:93,834,144...93,838,864
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G |
Ndufa10 |
NADH:ubiquinone oxidoreductase subunit A10 |
|
ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,007,034...93,041,825
Ensembl chr 9:93,007,042...93,042,560
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G |
Neu4 |
neuraminidase 4 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:94,396,920...94,402,576
Ensembl chr 9:94,396,920...94,402,576
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G |
Or6b2 |
olfactory receptor family 6 subfamily B member 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,048,475...93,049,413
Ensembl chr 9:93,045,014...93,053,641
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G |
Otos |
otospiralin |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,216,948...93,220,614
Ensembl chr 9:93,216,948...93,218,466
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G |
Pask |
PAS domain containing serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,844,275...93,886,036
Ensembl chr 9:93,844,278...93,885,111
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G |
Pdcd1 |
programmed cell death 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Per2 |
period circadian regulator 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459
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G |
Ppp1r7 |
protein phosphatase 1, regulatory subunit 7 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,886,068...93,911,198
Ensembl chr 9:93,886,143...93,914,850
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Prlh |
prolactin releasing hormone |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:91,543,128...91,549,022
Ensembl chr 9:91,547,901...91,548,818
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G |
Prr21 |
proline rich 21 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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G |
Rab17 |
RAB17, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:91,552,924...91,566,759
Ensembl chr 9:91,553,464...91,566,451
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G |
Ramp1 |
receptor activity modifying protein 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:91,765,481...91,816,152
Ensembl chr 9:91,781,285...91,816,151
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G |
Rbm44 |
RNA binding motif protein 44 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:91,731,153...91,756,783
Ensembl chr 9:91,731,115...91,756,772
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G |
Rnpepl1 |
arginyl aminopeptidase like 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,476,600...93,486,331
Ensembl chr 9:93,472,390...93,486,331
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G |
Scly |
selenocysteine lyase |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:91,890,269...91,910,947
Ensembl chr 9:91,890,306...91,910,941
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G |
Septin2 |
septin 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:94,018,141...94,051,386
Ensembl chr 9:94,018,208...94,051,386
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G |
Sned1 |
sushi, nidogen and EGF-like domains 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,774,087...93,834,003
Ensembl chr 9:93,774,119...93,830,694
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G |
Stk25 |
serine/threonine kinase 25 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:94,161,834...94,174,095
Ensembl chr 9:94,161,836...94,174,244
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G |
Thap4 |
THAP domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:94,242,581...94,282,312
Ensembl chr 9:94,242,581...94,282,306
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G |
Traf3ip1 |
TRAF3 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977
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G |
Twist2 |
twist family bHLH transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222
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G |
Ube2f |
ubiquitin-conjugating enzyme E2F (putative) |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:91,845,975...91,881,145
Ensembl chr 9:91,845,987...91,880,594
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G |
Atoh8 |
atonal bHLH transcription factor 8 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 4:104,259,992...104,292,168
Ensembl chr 4:104,259,992...104,292,168
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G |
C4h2orf68 |
similar to human chromosome 2 open reading frame 68 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 4:104,402,553...104,408,317
Ensembl chr 4:104,402,588...104,408,320
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G |
Ggcx |
gamma-glutamyl carboxylase |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 4:104,469,737...104,485,631
Ensembl chr 4:104,469,765...104,487,063
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G |
Immt |
inner membrane mitochondrial protein |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 4:103,880,482...103,919,116
Ensembl chr 4:103,880,459...103,919,109
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G |
Mat2a |
methionine adenosyltransferase 2A |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493
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G |
Mrpl35 |
mitochondrial ribosomal protein L35 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 4:103,865,812...103,876,687
Ensembl chr 4:103,865,812...103,880,887
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G |
Polr1a |
RNA polymerase I subunit A |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 4:103,950,051...104,014,022
Ensembl chr 4:103,950,051...104,014,020
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G |
Ptcd3 |
Pentatricopeptide repeat domain 3 |
|
ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 4:103,922,440...103,957,445
Ensembl chr 4:103,920,566...103,957,538
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G |
Reep1 |
receptor accessory protein 1 |
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ISO ISS |
OMIM:610250 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
OMIM MouseDO CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:16826527 PMID:17576681 PMID:18321925 PMID:18644145 PMID:19034539 PMID:19072839 PMID:20718791 PMID:21618648 PMID:22062632 PMID:22703882 PMID:23108492 PMID:23400676 PMID:23812641 PMID:24098485 PMID:24451228 PMID:24478229 PMID:24604904 PMID:24986827 PMID:25025039 PMID:25525159 PMID:25640679 PMID:25741868 PMID:26201691 PMID:26374131 PMID:26467025 PMID:26671083 PMID:27066569 PMID:27260292 PMID:28362824 PMID:28492532 PMID:29124833 PMID:29629531 PMID:30373780 PMID:30564185 PMID:30637453 PMID:31872057 PMID:32581362 More...
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NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338
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G |
Rnf181 |
ring finger protein 181 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 4:104,414,586...104,421,433
Ensembl chr 4:104,414,605...104,421,309
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G |
Sftpb |
surfactant protein B |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
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G |
St3gal5 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 5 |
|
ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 4:104,134,613...104,192,558
Ensembl chr 4:104,134,613...104,192,558
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G |
Tmem150a |
transmembrane protein 150A |
|
ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 4:104,410,271...104,414,630
Ensembl chr 4:104,410,516...104,429,349
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G |
Usp39 |
ubiquitin specific peptidase 39 |
|
ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 4:104,373,948...104,406,359
Ensembl chr 4:104,373,955...104,406,359
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G |
Vamp5 |
vesicle-associated membrane protein 5 |
|
ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 4:104,423,813...104,435,059
Ensembl chr 4:104,423,820...104,426,212
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G |
Vamp8 |
vesicle-associated membrane protein 8 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 4:104,442,383...104,452,884
Ensembl chr 4:104,442,393...104,452,897
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G |
Ap4m1 |
adaptor related protein complex 4 subunit mu 1 |
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ISO |
ClinVar Annotator: match by term: Spastic tetraparesis |
ClinVar |
PMID:28492532 |
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NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
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G |
Atp13a2 |
ATPase cation transporting 13A2 |
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ISO |
ClinVar Annotator: match by term: Spastic tetraparesis |
ClinVar |
PMID:25741868 |
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NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139
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G |
Zfyve27 |
zinc finger FYVE-type containing 27 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia 33 | ClinVar Annotator: match by term: Spastic tetraparesis |
OMIM CTD ClinVar |
PMID:16826525 PMID:18606302 PMID:24668814 PMID:25741868 PMID:28492532 PMID:30564185 More...
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NCBI chr 1:240,979,831...241,003,193
Ensembl chr 1:240,979,842...241,003,193
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G |
Cep85l |
centrosomal protein 85-like |
|
ISO |
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, WITH OR WITHOUT NEURODEGENERATION |
ClinVar |
PMID:12610310 PMID:16829191 PMID:21735565 PMID:28492532 |
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NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516
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G |
Fa2h |
fatty acid 2-hydroxylase |
|
ISO ISS |
OMIM:612319 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia 35 |
OMIM MouseDO CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19068277 PMID:20104589 PMID:20853438 PMID:22146942 PMID:23745665 PMID:24033266 PMID:24299421 PMID:24833714 PMID:25326637 PMID:25496456 PMID:25732363 PMID:25741868 PMID:26344562 PMID:26467025 PMID:27217339 PMID:27957547 PMID:28017243 PMID:28492532 PMID:29423566 PMID:30446360 PMID:30532373 PMID:30713878 PMID:31130284 PMID:31135052 PMID:31407473 PMID:31429931 PMID:31690835 PMID:32624042 PMID:32907636 PMID:33083013 PMID:33144682 PMID:33246395 PMID:34445196 PMID:34852264 PMID:35578252 More...
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NCBI chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153
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G |
Pln |
phospholamban |
|
ISO |
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, WITH OR WITHOUT NEURODEGENERATION |
ClinVar |
PMID:12610310 PMID:16829191 PMID:21735565 PMID:28492532 |
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NCBI chr20:32,629,537...32,639,559
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G |
Arhgef18 |
Rho/Rac guanine nucleotide exchange factor 18 |
|
ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 |
ClinVar |
PMID:28492532 |
|
NCBI chr12:1,395,035...1,503,082
Ensembl chr12:1,395,088...1,503,081
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G |
Mcoln1 |
mucolipin TRP cation channel 1 |
|
ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
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G |
Pex11g |
peroxisomal biogenesis factor 11 gamma |
|
ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 |
ClinVar |
PMID:28492532 |
|
NCBI chr12:1,502,606...1,532,347
Ensembl chr12:1,503,646...1,512,585
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G |
Pnpla6 |
patatin-like phospholipase domain containing 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 | ClinVar Annotator: match by term: NTE related motor neuron disorder | ClinVar Annotator: match by term: Spastic paraplegia 39 |
OMIM CTD ClinVar |
PMID:3963113 PMID:8053762 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18313024 PMID:20603202 PMID:23733235 PMID:24355708 PMID:25033069 PMID:25133958 PMID:25267340 PMID:25299038 PMID:25359264 PMID:25480986 PMID:25574898 PMID:25741868 PMID:26467025 PMID:26995604 PMID:27866050 PMID:28492532 PMID:28559085 PMID:29221171 PMID:29248984 PMID:30097146 PMID:30555943 PMID:30564185 PMID:31048186 PMID:31135245 PMID:31712030 PMID:31780887 PMID:32579787 PMID:32586184 PMID:32623594 PMID:32758583 PMID:32870266 PMID:33141049 PMID:33210227 PMID:34103343 PMID:34234304 PMID:34445196 PMID:35069422 PMID:35872528 More...
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NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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G |
Saxo5 |
stabilizer of axonemal microtubules 5 |
|
ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 |
ClinVar |
PMID:28492532 |
|
NCBI chr12:1,520,983...1,538,127
Ensembl chr12:1,521,014...1,538,118
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G |
Zfp358 |
zinc finger protein 358 |
|
ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 |
ClinVar |
PMID:28492532 |
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NCBI chr12:1,552,367...1,556,460
Ensembl chr12:1,552,366...1,556,460
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Atl1 |
atlastin GTPase 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2255281 PMID:4684346 PMID:8252041 PMID:8981948 PMID:9246006 PMID:9341882 PMID:9536098 PMID:10739752 PMID:11685207 PMID:12112092 PMID:12499504 PMID:12939451 PMID:14506257 PMID:14607301 PMID:14695538 PMID:15184642 PMID:15477516 PMID:15517445 PMID:15596607 PMID:15742100 PMID:15981243 PMID:16401858 PMID:16533974 PMID:16537571 PMID:16612642 PMID:17285536 PMID:17321752 PMID:17427918 PMID:17502470 PMID:17531128 PMID:17576681 PMID:17992088 PMID:18256395 PMID:19423133 PMID:19459885 PMID:19652243 PMID:19735987 PMID:19768483 PMID:20718791 PMID:20816793 PMID:20862796 PMID:20932283 PMID:20947813 PMID:21194679 PMID:21208200 PMID:21220294 PMID:21321493 PMID:21336785 PMID:21368113 PMID:21494555 PMID:22552817 PMID:22581552 PMID:23079343 PMID:23108492 PMID:23233086 PMID:23334294 PMID:23400676 PMID:23483706 PMID:23664116 PMID:23664119 PMID:23664120 PMID:23684613 PMID:23999326 PMID:24002164 PMID:24100245 PMID:24417445 PMID:24451228 PMID:24473461 PMID:24482476 PMID:24604904 PMID:24969372 PMID:25193411 PMID:25326635 PMID:25341883 PMID:25637064 PMID:25640679 PMID:25741868 PMID:25741869 PMID:25761634 PMID:26208798 PMID:26374131 PMID:26467025 PMID:26633542 PMID:26671083 PMID:26888483 PMID:27751653 PMID:27993330 PMID:28240257 PMID:28396731 PMID:28492532 PMID:28736820 PMID:29180453 PMID:29691679 PMID:29907907 PMID:29934652 PMID:29980238 PMID:30008475 PMID:30666337 PMID:30773365 PMID:30780198 PMID:31227335 PMID:31236401 PMID:31594988 PMID:31630374 PMID:31920481 PMID:32322428 PMID:32488064 PMID:32581362 PMID:32860008 PMID:32989326 PMID:34546351 PMID:34808209 More...
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NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204
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Bicd2 |
BICD cargo adaptor 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A |
ClinVar |
PMID:11241493 PMID:21208200 PMID:23664120 PMID:28492532 |
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NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
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G |
Map4k5 |
mitogen-activated protein kinase kinase kinase kinase 5 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 6:88,284,087...88,377,118
Ensembl chr 6:88,284,094...88,376,799
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Birc6 |
baculoviral IAP repeat-containing 6 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25065914 PMID:25741868 |
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NCBI chr 6:20,722,922...20,916,396
Ensembl chr 6:20,722,922...20,916,434
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Col3a1 |
collagen type III alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25741868 |
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NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Dpy30 |
dpy-30 histone methyltransferase complex regulatory subunit |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25065914 PMID:28492532 |
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NCBI chr 6:21,120,947...21,141,720
Ensembl chr 6:21,120,947...21,141,432
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G |
Fgg |
fibrinogen gamma chain |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
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Gnas |
GNAS complex locus |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant |
ClinVar |
PMID:8388883 PMID:23281139 PMID:25741868 PMID:25802881 PMID:28492532 PMID:29072892 PMID:34008892 More...
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NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Ltbp1 |
latent transforming growth factor beta binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25065914 |
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NCBI chr 6:20,029,629...20,425,339
Ensembl chr 6:20,029,629...20,425,349
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Memo1 |
mediator of cell motility 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:21,144,525...21,234,363
Ensembl chr 6:21,125,639...21,234,561
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Nlrc4 |
NLR family, CARD domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25065914 PMID:25741868 PMID:28492532 |
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NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248
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Ofd1 |
Ofd1 centriole and centriolar satellite protein |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:9990351 PMID:10999831 PMID:25741868 |
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NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110
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Phf6 |
PHD finger protein 6 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:12415272 PMID:15994862 PMID:25741868 PMID:25741869 PMID:28492532 |
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NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127
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G |
Slc30a6 |
solute carrier family 30 member 6 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25065914 PMID:25741868 PMID:28492532 |
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NCBI chr 6:21,020,931...21,050,785
Ensembl chr 6:21,020,931...21,050,785
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Spast |
spastin |
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ISO ISS |
ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of OMIM:182601 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:9695811 PMID:10493830 PMID:10610178 PMID:10699187 PMID:10980739 PMID:11015453 PMID:11039577 PMID:11087788 PMID:11134375 PMID:11309678 PMID:11359470 PMID:11704932 PMID:11809724 PMID:11843700 PMID:11985387 PMID:12023066 PMID:12124993 PMID:12161613 PMID:12163196 PMID:12202986 PMID:12471215 PMID:12552568 PMID:12736085 PMID:12939659 PMID:14732620 PMID:15095758 PMID:15159500 PMID:15210521 PMID:15248095 PMID:15326248 PMID:15482961 PMID:15637712 PMID:15667412 PMID:15716377 PMID:15841487 PMID:16009377 PMID:16009769 PMID:16055926 PMID:16199547 PMID:16240363 PMID:16476945 PMID:16682546 PMID:16684598 PMID:16788734 PMID:16832076 PMID:17035675 PMID:17098887 PMID:17100993 PMID:17345589 PMID:17560499 PMID:17576681 PMID:17594340 PMID:17597328 PMID:17598599 PMID:17598600 PMID:17690846 PMID:17895902 PMID:17916079 PMID:17957230 PMID:17971434 PMID:18202664 PMID:18410514 PMID:18608088 PMID:18613979 PMID:18664244 PMID:18701882 PMID:18975132 PMID:19289482 PMID:19423133 PMID:19438933 PMID:19494379 PMID:19763152 PMID:19875132 PMID:20214791 PMID:20301339 PMID:20307669 PMID:20430936 PMID:20491894 PMID:20550563 PMID:20559269 PMID:20562464 PMID:20665701 PMID:20718791 PMID:20843780 PMID:20932283 PMID:21546041 PMID:21659953 PMID:21834905 PMID:21888932 PMID:21896784 PMID:22203332 PMID:22406018 PMID:22552817 PMID:22817815 PMID:22960362 PMID:23238845 PMID:23252998 PMID:23264559 PMID:23279441 PMID:23400676 PMID:23833562 PMID:24033003 PMID:24033266 PMID:24215330 PMID:24381312 PMID:24417445 PMID:24451228 PMID:24478365 PMID:24648003 PMID:24690193 PMID:24731568 PMID:24824479 PMID:25045380 PMID:25065914 PMID:25326635 PMID:25326637 PMID:25341883 PMID:25421405 PMID:25454648 PMID:25525159 PMID:25640679 PMID:25658484 PMID:25741868 PMID:25741869 PMID:26086985 PMID:26094131 PMID:26165777 PMID:26208798 PMID:26297558 PMID:26374131 PMID:26467025 PMID:26600529 PMID:26671083 PMID:27077743 PMID:27084228 PMID:27108959 PMID:27260292 PMID:27276562 PMID:27334366 PMID:27688599 PMID:27871443 PMID:27942873 PMID:27957547 PMID:28160950 PMID:28492532 PMID:28495799 PMID:28572275 PMID:29112992 PMID:29246610 PMID:29389947 PMID:29421991 PMID:29691679 PMID:29761117 PMID:29907907 PMID:29908077 PMID:29934652 PMID:29980238 PMID:30006150 PMID:30375765 PMID:30476002 PMID:30489674 PMID:30520996 PMID:30528841 PMID:30564185 PMID:30747022 PMID:30778698 PMID:30780198 PMID:31134136 PMID:31157359 PMID:31227335 PMID:31407473 PMID:31594988 PMID:31630374 PMID:31692161 PMID:31751864 PMID:31851166 PMID:32092540 PMID:32522921 PMID:32650125 PMID:32655478 PMID:32908740 PMID:32989326 PMID:33098801 PMID:33446253 PMID:33624935 PMID:33638609 PMID:33770234 PMID:34008892 PMID:34114234 PMID:34507445 PMID:34531397 PMID:34715294 PMID:34753439 PMID:35303589 PMID:35896380 More...
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NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
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Srd5a2 |
steroid 5 alpha-reductase 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112
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Tcf4 |
transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25741868 |
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NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425
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Trappc2 |
trafficking protein particle complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:9990351 PMID:10999831 PMID:25741868 |
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NCBI chr X:28,004,051...28,015,336
Ensembl chr X:27,994,054...28,015,346
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Ttc27 |
tetratricopeptide repeat domain 27 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25065914 PMID:25741868 |
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NCBI chr 6:20,558,756...20,702,126
Ensembl chr 6:20,558,756...20,702,115
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Xdh |
xanthine dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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G |
Yipf4 |
Yip1 domain family, member 4 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25065914 PMID:25741868 |
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NCBI chr 6:20,950,774...20,962,195
Ensembl chr 6:20,950,501...20,962,229
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G |
Slc33a1 |
solute carrier family 33 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia 42 |
OMIM CTD ClinVar |
PMID:19061983 PMID:24583203 PMID:25402622 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758
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C1h19orf12 |
similar to human chromosome 19 open reading frame 12 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 | ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive |
OMIM CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:20039086 PMID:21981780 PMID:22584950 PMID:23166001 PMID:23269600 PMID:23436634 PMID:23494994 PMID:23857908 PMID:24033266 PMID:24361204 PMID:25558065 PMID:25592411 PMID:25741868 PMID:26187298 PMID:27112773 PMID:28492532 PMID:28641177 PMID:28832565 PMID:29915382 PMID:30088953 PMID:30369941 PMID:30392167 PMID:31087512 PMID:31105013 PMID:31804703 PMID:33607528 PMID:34284285 More...
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NCBI chr 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208
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Gjc2 |
gap junction protein, gamma 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia 44 DNA:missense mutation:cds:p.I33M (human) |
OMIM CTD ClinVar RGD |
PMID:19056803 PMID:25741868 PMID:27057822 PMID:28492532 PMID:19056803 |
RGD:13208577 |
NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
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Cnnm2 |
cyclin and CBS domain divalent metal cation transport mediator 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 |
ClinVar |
PMID:24482476 PMID:25741868 PMID:28492532 |
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NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286
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G |
Nt5c2 |
5'-nucleotidase, cytosolic II |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19415352 PMID:24482476 PMID:25741868 PMID:28492532 PMID:29123918 PMID:32214227 More...
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NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
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G |
Eef1a2 |
eukaryotic translation elongation factor 1 alpha 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 46 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071
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Gba2 |
glucosylceramidase beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia 46 |
OMIM CTD ClinVar |
PMID:16199547 PMID:20593214 PMID:23332916 PMID:23332917 PMID:24252062 PMID:25741868 PMID:26220345 PMID:28492532 PMID:28832565 PMID:30308956 More...
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NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
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G |
Ampd1 |
adenosine monophosphate deaminase 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
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G |
Ap4b1 |
adaptor related protein complex 4 subunit beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: AP4-related intellectual disability and spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21440262 PMID:21620353 PMID:22290197 PMID:24700674 PMID:24781758 PMID:25167861 PMID:25693842 PMID:25741868 PMID:26544806 PMID:27625858 PMID:28492532 PMID:29193663 PMID:31915823 PMID:32964447 PMID:32979048 PMID:33594065 More...
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NCBI chr 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531
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G |
Bcas2 |
BCAS2, pre-mRNA processing factor |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:190,692,503...190,700,386
Ensembl chr 2:190,692,461...190,700,389
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G |
Bcl2l15 |
Bcl2-like 15 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:191,338,959...191,344,078
Ensembl chr 2:191,338,959...191,344,078
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G |
Capza1 |
capping actin protein of muscle Z-line subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:192,319,696...192,364,755
Ensembl chr 2:192,319,702...192,364,480
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G |
Csde1 |
cold shock domain containing E1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:190,546,015...190,582,787
Ensembl chr 2:190,554,980...190,582,784
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G |
Cttnbp2nl |
CTTNBP2 N-terminal like |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:192,507,963...192,554,548
Ensembl chr 2:192,507,963...192,541,101
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G |
Dclre1b |
DNA cross-link repair 1B |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:25741868 PMID:28492532 |
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NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423
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G |
Dennd2c |
DENN domain containing 2C |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:190,622,357...190,690,489
Ensembl chr 2:190,622,940...190,690,488
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G |
Hipk1 |
homeodomain interacting protein kinase 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:191,248,817...191,299,787
Ensembl chr 2:191,248,817...191,298,902
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G |
Kcnd3 |
potassium voltage-gated channel subfamily D member 3 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:192,937,950...193,155,345
Ensembl chr 2:192,937,950...193,155,345
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G |
Lrig2 |
leucine-rich repeats and immunoglobulin-like domains 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:191,947,322...192,012,996
Ensembl chr 2:191,949,819...192,012,579
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G |
Magi3 |
membrane associated guanylate kinase, WW and PDZ domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:191,514,726...191,717,048
Ensembl chr 2:191,518,506...191,716,735
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G |
Mov10 |
Mov10 RNA helicase |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:192,292,041...192,315,142
Ensembl chr 2:192,293,470...192,315,083
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G |
Nras |
NRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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G |
Olfml3 |
olfactomedin-like 3 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
|
NCBI chr 2:191,244,221...191,247,050
Ensembl chr 2:191,244,221...191,247,050
|
|
G |
Phtf1 |
putative homeodomain transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
|
NCBI chr 2:191,470,849...191,537,399
Ensembl chr 2:191,473,130...191,512,078
|
|
G |
Ppm1j |
protein phosphatase, Mg2+/Mn2+ dependent, 1J |
|
ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 |