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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Generalized muscle weakness
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Accession:HP:0003324 term browser browse the term
Definition:Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
Synonyms:exact_synonym: Generalised muscle weakness;   Generalised weakness;   Generalized weakness;   Muscle weakness, diffuse
 alt_id: HP:0003686;   HP:0003723
 xref: UMLS:C0746674


show annotations for term's descendants           Sort by:
Generalized muscle weakness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS2 alanyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Generalized muscle weakness ClinVar
HPO		 PMID:24808023 PMID:25741868 PMID:27734837 PMID:27749956 PMID:28492532 More... OMIM:614096 NCBI chr 6:44,298,731...44,313,347
Ensembl chr 6:44,298,731...44,313,347 		JBrowse link
G ABCB6 ATP binding cassette subfamily B member 6 (LAN blood group) IAGP HPO OMIM:609153 NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994 		JBrowse link
G ACAD9 acyl-CoA dehydrogenase family member 9 IAGP HPO ORPHA:99901 NCBI chr 3:128,879,620...128,913,114
Ensembl chr 3:128,879,596...128,924,003 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO OMIM:161800 OMIM:620265 OMIM:620278 ORPHA:171433 ORPHA:2020 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ACY1 aminoacylase 1 IAGP HPO ORPHA:137754 NCBI chr 3:51,983,535...51,989,197
Ensembl chr 3:51,983,340...51,989,197 		JBrowse link
G ADCY5 adenylate cyclase 5 IAGP HPO OMIM:606703 NCBI chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090 		JBrowse link
G AGK acylglycerol kinase IAGP HPO OMIM:212350 NCBI chr 7:141,551,410...141,655,244
Ensembl chr 7:141,551,278...141,655,244 		JBrowse link
G AGRN agrin IAGP HPO ORPHA:98914 NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP HPO ORPHA:238329 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G ANG angiogenin IAGP HPO ORPHA:803 NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971 		JBrowse link
G ANXA11 annexin A11 IAGP HPO ORPHA:803 NCBI chr10:80,150,889...80,205,808
Ensembl chr10:80,150,889...80,205,572 		JBrowse link
G ATP13A2 ATPase cation transporting 13A2 IAGP HPO ORPHA:306674 NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928 		JBrowse link
G ATXN2 ataxin 2 IAGP HPO ORPHA:803 NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676 		JBrowse link
G BAG3 BAG cochaperone 3 IAGP HPO OMIM:612954 NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819 		JBrowse link
G CAPN3 calpain 3 IAGP HPO ORPHA:267 NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949 		JBrowse link
G CAVIN1 caveolae associated protein 1 IAGP HPO OMIM:613327 NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256 		JBrowse link
G CCND1 cyclin D1 IAGP HPO ORPHA:29073 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G CCNF cyclin F IAGP HPO ORPHA:803 NCBI chr16:2,429,447...2,458,854
Ensembl chr16:2,429,394...2,458,854 		JBrowse link
G CFAP410 cilia and flagella associated protein 410 IAGP HPO ORPHA:803 NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402 		JBrowse link
G CHAT choline O-acetyltransferase IAGP HPO ORPHA:98914 NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942 		JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 IAGP HPO ORPHA:803 NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972 		JBrowse link
G CHMP2B charged multivesicular body protein 2B IAGP HPO ORPHA:803 NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO OMIM:601462 OMIM:608930 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP HPO OMIM:616321 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO OMIM:607364 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G COA8 cytochrome c oxidase assembly factor 8 IAGP HPO ORPHA:436271 NCBI chr14:103,562,960...103,590,899
Ensembl chr14:103,562,960...103,607,523 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:536516 ORPHA:75840 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP HPO ORPHA:98914 NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO ORPHA:75840 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP HPO ORPHA:75840 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO ORPHA:75840 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase IAGP HPO OMIM:603034 ORPHA:98915 NCBI chr 3:15,450,133...15,521,706
Ensembl chr 3:15,450,133...15,521,751 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO ORPHA:370980 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G DAO D-amino acid oxidase IAGP HPO ORPHA:803 NCBI chr12:108,880,092...108,901,043
Ensembl chr12:108,858,932...108,901,043 		JBrowse link
G DCTN1 dynactin subunit 1 IAGP HPO ORPHA:803 NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087 		JBrowse link
G DMD dystrophin IAGP HPO ORPHA:206546 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 IAGP HPO ORPHA:34516 NCBI chr 7:157,337,004...157,417,439
Ensembl chr 7:157,335,381...157,417,439 		JBrowse link
G DSE dermatan sulfate epimerase IAGP HPO OMIM:615539 NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861 		JBrowse link
G EPHA4 EPH receptor A4 IAGP HPO ORPHA:803 NCBI chr 2:221,418,027...221,574,202
Ensembl chr 2:221,418,027...221,574,202 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 IAGP HPO ORPHA:803 NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841 		JBrowse link
G EXOSC9 exosome component 9 IAGP HPO OMIM:618065 NCBI chr 4:121,801,323...121,817,021
Ensembl chr 4:121,801,318...121,817,021 		JBrowse link
G FGF23 fibroblast growth factor 23 IAGP HPO OMIM:193100 NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO ORPHA:803 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G FKRP fukutin related protein IAGP HPO OMIM:606612 ORPHA:370980 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO OMIM:613152 ORPHA:370980 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FUS FUS RNA binding protein IAGP HPO ORPHA:803 NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,191,605 		JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 IAGP HPO OMIM:154020 NCBI chr11:117,820,057...117,828,089
Ensembl chr11:117,800,844...117,828,698 		JBrowse link
G GAA alpha glucosidase IAGP HPO ORPHA:308552 NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881 		JBrowse link
G GLE1 GLE1 RNA export mediator IAGP HPO ORPHA:803 NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874 		JBrowse link
G GLT8D1 glycosyltransferase 8 domain containing 1 IAGP HPO ORPHA:803 NCBI chr 3:52,694,486...52,705,791
Ensembl chr 3:52,694,486...52,706,032 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP HPO ORPHA:2020 NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374 		JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha IAGP HPO OMIM:609015 ORPHA:746 NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672 		JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta IAGP HPO ORPHA:746 NCBI chr 2:26,244,939...26,290,465
Ensembl chr 2:26,243,170...26,290,465 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 IAGP HPO ORPHA:803 NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088 		JBrowse link
G HTT huntingtin IAGP HPO ORPHA:399 NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957 		JBrowse link
G IBA57 iron-sulfur cluster assembly factor IBA57 IAGP HPO OMIM:615330 NCBI chr 1:228,165,804...228,182,257
Ensembl chr 1:228,165,804...228,182,257 		JBrowse link
G ITGA7 integrin subunit alpha 7 IAGP HPO ORPHA:2020 NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404 		JBrowse link
G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 IAGP HPO OMIM:241200 NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373 		JBrowse link
G KLHL41 kelch like family member 41 IAGP HPO ORPHA:171433 NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP HPO ORPHA:98915 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LDB3 LIM domain binding 3 IAGP HPO ORPHA:98912 NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072 		JBrowse link
G LMOD3 leiomodin 3 IAGP HPO OMIM:616165 NCBI chr 3:69,106,065...69,122,595
Ensembl chr 3:69,106,065...69,123,032 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO ORPHA:2020 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015 		JBrowse link
G MATR3 matrin 3 IAGP HPO ORPHA:803 NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671
Ensembl chr 5:139,273,752...139,331,671 		JBrowse link
G MEGF10 multiple EGF like domains 10 IAGP HPO OMIM:620249 NCBI chr 5:127,229,300...127,461,222
Ensembl chr 5:127,290,796...127,465,737 		JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:97279 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MORC2 MORC family CW-type zinc finger 2 IAGP HPO ORPHA:466768 NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774 		JBrowse link
G MTM1 myotubularin 1 IAGP HPO OMIM:310400 NCBI chr  X:150,562,653...150,673,143
Ensembl chr  X:150,568,417...150,673,143 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO OMIM:616325 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G MYH2 myosin heavy chain 2 IAGP HPO OMIM:605637 NCBI chr17:10,521,148...10,549,658
Ensembl chr17:10,521,148...10,549,700 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO OMIM:608358 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYL1 myosin light chain 1 IAGP HPO OMIM:618414 NCBI chr 2:210,290,150...210,315,174
Ensembl chr 2:210,290,150...210,315,174 		JBrowse link
G MYL2 myosin light chain 2 IAGP HPO OMIM:619424 ORPHA:2020 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,910,819...110,921,443 		JBrowse link
G MYO9A myosin IXA IAGP HPO ORPHA:98914 NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577 		JBrowse link
G NEB nebulin IAGP HPO OMIM:256030 ORPHA:171433 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G NEFH neurofilament heavy chain IAGP HPO ORPHA:803 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO ORPHA:803 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G OPTN optineurin IAGP HPO ORPHA:803 NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308 		JBrowse link
G ORAI1 ORAI calcium release-activated calcium modulator 1 IAGP HPO OMIM:615883 NCBI chr12:121,626,530...121,643,109
Ensembl chr12:121,626,509...121,643,218 		JBrowse link
G PFN1 profilin 1 IAGP HPO ORPHA:803 NCBI chr17:4,945,652...4,948,530
Ensembl chr17:4,945,652...4,949,061 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO ORPHA:280633 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP HPO OMIM:256600 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G PLEC plectin IAGP HPO OMIM:613723 ORPHA:254361 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO ORPHA:1900 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
G PNKD PNKD metallo-beta-lactamase domain containing IAGP HPO ORPHA:98810 NCBI chr 2:218,270,519...218,346,793
Ensembl chr 2:218,269,651...218,346,793 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO OMIM:607459 OMIM:613662 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP ClinVar Annotator: match by term: Generalized muscle weakness ClinVar PMID:24808023 PMID:25741868 PMID:27734837 PMID:27749956 PMID:28492532 More... NCBI chr 6:43,517,089...44,461,400
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO OMIM:253280 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:370980 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO OMIM:613156 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PON1 paraoxonase 1 IAGP HPO ORPHA:803 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G PON2 paraoxonase 2 IAGP HPO ORPHA:803 NCBI chr 7:95,404,862...95,435,028
Ensembl chr 7:95,404,862...95,435,329 		JBrowse link
G PON3 paraoxonase 3 IAGP HPO ORPHA:803 NCBI chr 7:95,359,872...95,396,375
Ensembl chr 7:95,359,872...95,396,375 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha IAGP HPO ORPHA:803 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
G PPP1R10 protein phosphatase 1 regulatory subunit 10 IAGP ClinVar Annotator: match by term: Generalized muscle weakness ClinVar PMID:25741868 NCBI chr 6:30,600,413...30,617,243
Ensembl chr 6:30,600,413...30,618,612 		JBrowse link
G PRPH peripherin IAGP HPO ORPHA:803 NCBI chr12:49,295,147...49,298,686
Ensembl chr12:49,295,147...49,298,686 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP HPO ORPHA:98810 NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
G RANBP2 RAN binding protein 2 IAGP HPO ORPHA:88619 NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP HPO OMIM:616326 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G RNU12 RNA, U12 small nuclear IAGP HPO OMIM:620208 NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Generalized muscle weakness ClinVar
HPO		 PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 More... OMIM:117000 OMIM:255320 ORPHA:178145 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO OMIM:620351 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO ORPHA:3208 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHAF1 succinate dehydrogenase complex assembly factor 1 IAGP HPO ORPHA:3208 NCBI chr19:35,995,188...35,996,312
Ensembl chr19:35,995,188...35,996,312 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:3208 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,032 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO ORPHA:3208 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SELENON selenoprotein N IAGP HPO OMIM:602771 ORPHA:2020 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G SLC12A1 solute carrier family 12 member 1 IAGP HPO OMIM:601678 NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078 		JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP HPO OMIM:263800 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850 		JBrowse link
G SLC16A2 solute carrier family 16 member 2 IAGP HPO ORPHA:59 NCBI chr  X:74,421,493...74,533,916
Ensembl chr  X:74,421,493...74,533,917 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP HPO ORPHA:98914 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720 		JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP HPO ORPHA:98914 NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP HPO OMIM:609283 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 IAGP HPO ORPHA:399 NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...8,019,007 		JBrowse link
G SLC52A3 solute carrier family 52 member 3 IAGP HPO OMIM:211530 NCBI chr20:760,080...780,033
Ensembl chr20:760,080...776,015 		JBrowse link
G SLC5A7 solute carrier family 5 member 7 IAGP HPO ORPHA:98914 NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994 		JBrowse link
G SNAP25 synaptosome associated protein 25 IAGP HPO ORPHA:98914 NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258 		JBrowse link
G SOD1 superoxide dismutase 1 IAGP HPO ORPHA:803 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP HPO OMIM:620285 NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413 		JBrowse link
G SQSTM1 sequestosome 1 IAGP HPO ORPHA:803 NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
G SYT2 synaptotagmin 2 IAGP HPO ORPHA:98914 NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454 		JBrowse link
G TAF15 TATA-box binding protein associated factor 15 IAGP HPO ORPHA:803 NCBI chr17:35,809,484...35,847,242
Ensembl chr17:35,809,482...35,864,615 		JBrowse link
G TARDBP TAR DNA binding protein IAGP HPO ORPHA:803 NCBI chr 1:11,012,654...11,030,528
Ensembl chr 1:11,012,344...11,030,528 		JBrowse link
G TBK1 TANK binding kinase 1 IAGP HPO ORPHA:803 NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114 		JBrowse link
G TK2 thymidine kinase 2 IAGP HPO ORPHA:254875 NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:2020 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO OMIM:255310 OMIM:609284 ORPHA:171433 ORPHA:2020 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO ORPHA:803 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Muscle weakness, diffuse ClinVar
HPO		 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 OMIM:611705 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Muscle weakness, diffuse ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G TWNK twinkle mtDNA helicase IAGP HPO OMIM:607459 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO ORPHA:1145 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
G UBQLN2 ubiquilin 2 IAGP HPO ORPHA:803 NCBI chr  X:56,563,627...56,567,868
Ensembl chr  X:56,563,627...56,567,868 		JBrowse link
G UNC13A unc-13 homolog A IAGP HPO ORPHA:803 NCBI chr19:17,601,336...17,688,354
Ensembl chr19:17,601,336...17,688,365 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP HPO ORPHA:98914 NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677 		JBrowse link
G VAPB VAMP associated protein B and C IAGP HPO ORPHA:803 NCBI chr20:58,389,229...58,451,101
Ensembl chr20:58,389,229...58,451,101 		JBrowse link
G VCP valosin containing protein IAGP HPO ORPHA:329475 ORPHA:803 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G YY1 YY1 transcription factor IAGP HPO ORPHA:97279 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of the musculoskeletal system 4447
        Abnormality of the musculature 3222
          Abnormal muscle physiology 2798
            Muscle weakness 1081
              Generalized muscle weakness 138
paths to the root