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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:Abnormality of the musculature of the limbs
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Accession:HP:0009127 term browser browse the term
Synonyms:exact_synonym: Abnormal limb muscles;   Muscle issues in the arms and/or legs
 xref: UMLS:C4024582


show annotations for term's descendants           Sort by:
Abnormality of the musculature of the limbs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPHB4 EPH receptor B4 IAGP HPO ORPHA:137667 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523 		JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP HPO ORPHA:137667 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931 		JBrowse link
Abnormal calf musculature morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAAS aladin WD repeat nucleoporin IAGP HPO ORPHA:869 NCBI chr12:53,307,460...53,321,610
Ensembl chr12:53,307,456...53,324,864 		JBrowse link
G ANO5 anoctamin 5 IAGP HPO ORPHA:206549 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G FLNC filamin C IAGP HPO OMIM:614065 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A IAGP HPO ORPHA:869 NCBI chr 2:219,498,891...219,506,989
Ensembl chr 2:219,498,865...219,513,898 		JBrowse link
G KLHL9 kelch like family member 9 IAGP HPO ORPHA:399081 NCBI chr 9:21,329,665...21,335,404
Ensembl chr 9:21,329,665...21,335,404 		JBrowse link
G MATR3 matrin 3 IAGP HPO ORPHA:600 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 MYH7 myosin heavy chain 7 IAGP HPO ORPHA:59135 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP HPO ORPHA:565612 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 IAGP HPO ORPHA:869 NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594 		JBrowse link
Abnormality of the foot musculature term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIN1 bridging integrator 1 IAGP HPO ORPHA:169189 NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO ORPHA:100998 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G DNM2 dynamin 2 IAGP HPO ORPHA:169189 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO ORPHA:602 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G MTMR14 myotubularin related protein 14 IAGP HPO ORPHA:169189 NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393 		JBrowse link
G MYF6 myogenic factor 6 IAGP HPO ORPHA:169189 NCBI chr12:80,707,634...80,709,474
Ensembl chr12:80,707,634...80,709,474 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:169189 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
Abnormality of the hypothenar eminence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAAS aladin WD repeat nucleoporin IAGP HPO ORPHA:869 NCBI chr12:53,307,460...53,321,610
Ensembl chr12:53,307,456...53,324,864 		JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A IAGP HPO ORPHA:869 NCBI chr 2:219,498,891...219,506,989
Ensembl chr 2:219,498,865...219,513,898 		JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 IAGP HPO ORPHA:869 NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594 		JBrowse link
Abnormality of the musculature of the lower limbs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DKK1 dickkopf WNT signaling pathway inhibitor 1 IAGP HPO ORPHA:268882 NCBI chr10:52,314,281...52,317,657
Ensembl chr10:52,314,281...52,318,042 		JBrowse link
G HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 IAGP HPO ORPHA:464282 NCBI chr 6:104,728,094...104,859,919
Ensembl chr 6:104,728,094...104,859,919 		JBrowse link
G VCP valosin containing protein IAGP HPO ORPHA:329478 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
Abnormality of the musculature of the upper limbs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGRN agrin IAGP HPO ORPHA:98913 NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118 		JBrowse link
G AK9 adenylate kinase 9 IAGP HPO ORPHA:98913 NCBI chr 6:109,492,855...109,691,202
Ensembl chr 6:109,492,855...109,691,217 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO ORPHA:98913 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit IAGP HPO ORPHA:98913 NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP HPO ORPHA:98913 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP HPO ORPHA:98913 NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438 		JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP HPO ORPHA:98913 NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275 		JBrowse link
G DOK7 docking protein 7 IAGP HPO ORPHA:98913 NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO ORPHA:98913 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO ORPHA:98913 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP HPO ORPHA:98913 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO ORPHA:98913 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
Abnormality of the shoulder girdle musculature term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 PNPLA2 patatin like phospholipase domain containing 2 IAGP HPO ORPHA:565612 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
Abnormality of the thenar eminence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 IAGP HPO ORPHA:124 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO ORPHA:124 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G HEATR3 HEAT repeat containing 3 IAGP HPO ORPHA:124 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272 		JBrowse link
G RPL11 ribosomal protein L11 IAGP HPO ORPHA:124 NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835 		JBrowse link
G RPL15 ribosomal protein L15 IAGP HPO ORPHA:124 NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374 		JBrowse link
G RPL18 ribosomal protein L18 IAGP HPO ORPHA:124 NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184 		JBrowse link
G RPL26 ribosomal protein L26 IAGP HPO ORPHA:124 NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213 		JBrowse link
G RPL27 ribosomal protein L27 IAGP HPO ORPHA:124 NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959 		JBrowse link
G RPL31 ribosomal protein L31 IAGP HPO ORPHA:124 NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032 		JBrowse link
G RPL35 ribosomal protein L35 IAGP HPO ORPHA:124 NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981 		JBrowse link
G RPL35A ribosomal protein L35a IAGP HPO ORPHA:124 NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610 		JBrowse link
G RPL5 ribosomal protein L5 IAGP HPO ORPHA:124 NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924 		JBrowse link
G RPL8 ribosomal protein L8 IAGP HPO ORPHA:124 NCBI chr 8:144,789,769...144,792,390
Ensembl chr 8:144,789,765...144,792,587 		JBrowse link
G RPL9 ribosomal protein L9 IAGP HPO ORPHA:124 NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931 		JBrowse link
G RPS10 ribosomal protein S10 IAGP HPO ORPHA:124 NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069 		JBrowse link
G RPS15A ribosomal protein S15a IAGP HPO ORPHA:124 NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383 		JBrowse link
G RPS17 ribosomal protein S17 IAGP HPO ORPHA:124 NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459 		JBrowse link
G RPS19 ribosomal protein S19 IAGP HPO ORPHA:124 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925 		JBrowse link
G RPS20 ribosomal protein S20 IAGP HPO ORPHA:124 NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510 		JBrowse link
G RPS24 ribosomal protein S24 IAGP HPO ORPHA:124 NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813 		JBrowse link
G RPS26 ribosomal protein S26 IAGP HPO ORPHA:124 NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697 		JBrowse link
G RPS27 ribosomal protein S27 IAGP HPO ORPHA:124 NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155 		JBrowse link
G RPS28 ribosomal protein S28 IAGP HPO ORPHA:124 NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340 		JBrowse link
G RPS29 ribosomal protein S29 IAGP HPO ORPHA:124 NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164 		JBrowse link
G RPS7 ribosomal protein S7 IAGP HPO ORPHA:124 NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920 		JBrowse link
G TSR2 TSR2 ribosome maturation factor IAGP HPO ORPHA:124 NCBI chr  X:54,440,404...54,448,032
Ensembl chr  X:54,440,404...54,448,032 		JBrowse link
Amyotrophy of ankle musculature term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLHL9 kelch like family member 9 IAGP HPO ORPHA:399081 NCBI chr 9:21,329,665...21,335,404
Ensembl chr 9:21,329,665...21,335,404 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO OMIM:160500 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
Aplasia of the pectoralis major muscle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYMK myomaker, myoblast fusion factor IAGP HPO ORPHA:1358 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612 		JBrowse link
G MYMX myomixer, myoblast fusion factor IAGP HPO ORPHA:1358 NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,234 		JBrowse link
G PLXND1 plexin D1 IAGP HPO ORPHA:570 NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676 		JBrowse link
G REV3L REV3 like, DNA directed polymerase zeta catalytic subunit IAGP HPO ORPHA:570 NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715 		JBrowse link
G TBX3 T-box transcription factor 3 IAGP HPO ORPHA:3138 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO OMIM:142900 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442 		JBrowse link
Biceps aplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO OMIM:161200 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
Calf muscle hypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 IAGP HPO OMIM:611307 OMIM:613319 ORPHA:206549 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G AR androgen receptor IAGP HPO OMIM:313200 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G BIN1 bridging integrator 1 IAGP HPO ORPHA:169189 NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288 		JBrowse link
G CAPN3 calpain 3 IAGP ClinVar Annotator: match by term: Calf muscle hypertrophy HPO
ClinVar		 PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... ORPHA:267 NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949 		JBrowse link
G CAV3 caveolin 3 IAGP HPO OMIM:606072 OMIM:614321 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808 		JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 IAGP HPO OMIM:615048 NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972 		JBrowse link
G CIDEC cell death inducing DFFA like effector c IAGP HPO ORPHA:435651 NCBI chr 3:9,866,710...9,880,253
Ensembl chr 3:9,866,711...9,880,255 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO OMIM:616052 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G DAG1 dystroglycan 1 IAGP HPO ORPHA:280333 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G DHX16 DEAH-box helicase 16 IAGP HPO OMIM:618733 NCBI chr 6:30,653,127...30,673,006
Ensembl chr 6:30,653,119...30,673,006 		JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Calf muscle hypertrophy ClinVar
HPO		 PMID:7581396 PMID:16770791 PMID:17041906 PMID:17253928 PMID:21969337 More... OMIM:310200 ORPHA:206546 ORPHA:98896 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DNM2 dynamin 2 IAGP HPO ORPHA:169189 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488 		JBrowse link
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory IAGP HPO ORPHA:263494 NCBI chr 1:155,139,891...155,140,531
Ensembl chr 1:155,139,891...155,140,595 		JBrowse link
G DYSF dysferlin IAGP HPO ORPHA:268 ORPHA:45448 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G FKRP fukutin related protein IAGP HPO OMIM:606612 OMIM:607155 ORPHA:34515 ORPHA:370968 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO OMIM:253800 OMIM:611588 OMIM:611615 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FRG1 FSHD region gene 1 IAGP HPO OMIM:158900 NCBI chr 4:189,940,872...189,963,192
Ensembl chr 4:189,940,855...189,963,202 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:370968 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 IAGP HPO ORPHA:37612 NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP HPO OMIM:618138 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO OMIM:608840 ORPHA:370968 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LIMS2 LIM zinc finger domain containing 2 IAGP HPO OMIM:616827 NCBI chr 2:127,638,426...127,681,786
Ensembl chr 2:127,638,381...127,681,786 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 IAGP HPO ORPHA:98896 NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO OMIM:617760 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015 		JBrowse link
G MICU1 mitochondrial calcium uptake 1 IAGP HPO OMIM:615673 NCBI chr10:72,367,340...72,626,079
Ensembl chr10:72,367,340...72,626,131 		JBrowse link
G MTMR14 myotubularin related protein 14 IAGP HPO ORPHA:169189 NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393 		JBrowse link
G MYF6 myogenic factor 6 IAGP HPO ORPHA:169189 NCBI chr12:80,707,634...80,709,474
Ensembl chr12:80,707,634...80,709,474 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO OMIM:255160 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G PLEC plectin IAGP HPO ORPHA:254361 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
G PLIN1 perilipin 1 IAGP HPO ORPHA:280356 NCBI chr15:89,664,367...89,679,367
Ensembl chr15:89,664,367...89,679,427 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO ORPHA:101081 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO OMIM:613157 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) IAGP HPO OMIM:618135 NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP DNA:mutations: :multiple HPO
RGD		 PMID:16575835 OMIM:609308 OMIM:613155 ORPHA:370968 ORPHA:86812, RGD:11532686 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 ORPHA:206559 ORPHA:370968 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G POPDC3 popeye domain containing 3 IAGP HPO OMIM:618848 NCBI chr 6:105,157,900...105,180,014
Ensembl chr 6:105,157,900...105,180,014 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:169189 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SGCA sarcoglycan alpha IAGP HPO OMIM:608099 NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,928 		JBrowse link
G SGCB sarcoglycan beta IAGP HPO ORPHA:119 NCBI chr 4:52,020,706...52,038,299
Ensembl chr 4:52,020,706...52,038,299 		JBrowse link
G SGCD sarcoglycan delta IAGP HPO OMIM:601287 NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788 		JBrowse link
G SGCG sarcoglycan gamma IAGP DNA:mutation:cds: c.787G>A (p.Glu263Lys) HPO
RGD		 PMID:25802879 ORPHA:353, RGD:13605619 NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162 		JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP HPO OMIM:618197 NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739 		JBrowse link
G SMN1 survival of motor neuron 1, telomeric IAGP HPO OMIM:271150 NCBI chr 5:70,924,941...70,966,375
Ensembl chr 5:70,925,030...70,953,942
Ensembl chr 5:70,925,030...70,953,942 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO OMIM:616668 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G TCAP titin-cap IAGP HPO OMIM:601954 NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554 		JBrowse link
G TTN titin IAGP HPO OMIM:603689 OMIM:611705 ORPHA:178464 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G UNC45B unc-45 myosin chaperone B IAGP HPO OMIM:619178 NCBI chr17:35,147,817...35,189,345
Ensembl chr17:35,147,817...35,189,345 		JBrowse link
G VAPB VAMP associated protein B and C IAGP HPO ORPHA:209335 NCBI chr20:58,389,229...58,451,101
Ensembl chr20:58,389,229...58,451,101 		JBrowse link
Calf muscle hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAV3 caveolin 3 IAGP HPO ORPHA:488650 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO OMIM:121050 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO ORPHA:90658 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
Calf muscle pseudohypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 IAGP HPO ORPHA:399096 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G CAV3 caveolin 3 IAGP HPO ORPHA:488650 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO ORPHA:352479 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G DAG1 dystroglycan 1 IAGP HPO ORPHA:280333 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G DMD dystrophin IAGP HPO OMIM:300376 OMIM:310200 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G FKRP fukutin related protein IAGP HPO ORPHA:370959 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:370959 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		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 NEB nebulin IAGP HPO OMIM:256030 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO ORPHA:370959 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POMK protein O-mannose kinase IAGP HPO ORPHA:370959 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:370959 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 ORPHA:370959 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP HPO ORPHA:79083 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G SGCA sarcoglycan alpha IAGP HPO ORPHA:62 NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,928 		JBrowse link
G SGCB sarcoglycan beta IAGP HPO OMIM:604286 NCBI chr 4:52,020,706...52,038,299
Ensembl chr 4:52,020,706...52,038,299 		JBrowse link
G SGCG sarcoglycan gamma IAGP HPO OMIM:253700 ORPHA:353 NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162 		JBrowse link
G TRIM32 tripartite motif containing 32 IAGP HPO OMIM:254110 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300 		JBrowse link
Distal lower limb muscle weakness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO ORPHA:139399 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G ADSS1 adenylosuccinate synthase 1 IAGP HPO OMIM:617030 ORPHA:482601 NCBI chr14:104,724,229...104,747,325
Ensembl chr14:104,724,174...104,747,325 		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 OMIM:310490 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G ANO5 anoctamin 5 IAGP HPO OMIM:613319 ORPHA:206549 ORPHA:399096 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G ATL1 atlastin GTPase 1 IAGP ClinVar Annotator: match by term: Distal muscle weakness in lower limbs ClinVar
HPO		 PMID:21194679 PMID:25741868 ORPHA:100984 NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017 		JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP HPO OMIM:615290 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO OMIM:619112 ORPHA:139536 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G CCND1 cyclin D1 IAGP HPO ORPHA:892 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		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:276435 ORPHA:457050 NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972 		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 CPT1C carnitine palmitoyltransferase 1C IAGP HPO ORPHA:444099 NCBI chr19:49,690,662...49,713,731
Ensembl chr19:49,690,898...49,713,731 		JBrowse link
G DDHD2 DDHD domain containing 2 IAGP HPO OMIM:615033 NCBI chr 8:38,231,585...38,273,647
Ensembl chr 8:38,225,218...38,275,558 		JBrowse link
G DES desmin IAGP HPO ORPHA:98909 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 IAGP HPO OMIM:615025 NCBI chr10:12,068,954...12,123,221
Ensembl chr10:12,068,954...12,123,221 		JBrowse link
G DNM2 dynamin 2 IAGP HPO OMIM:160150 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP ClinVar Annotator: match by term: Distal muscle weakness in lower limbs ClinVar PMID:25741868 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443 		JBrowse link
G DYSF dysferlin IAGP ClinVar Annotator: match by term: Distal lower limb muscle weakness HPO
ClinVar		 PMID:25741868 ORPHA:45448 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G EGR2 early growth response 2 IAGP HPO OMIM:145900 NCBI chr10:62,811,996...62,819,167
Ensembl chr10:62,811,996...62,819,167 		JBrowse link
G EMILIN1 elastin microfibril interfacer 1 IAGP HPO OMIM:620080 NCBI chr 2:27,078,615...27,086,403
Ensembl chr 2:27,078,615...27,086,403 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO ORPHA:508533 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G FBLN5 fibulin 5 IAGP HPO OMIM:619764 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987 		JBrowse link
G FGD4 FYVE, RhoGEF and PH domain containing 4 IAGP HPO OMIM:609311 NCBI chr12:32,399,558...32,646,050
Ensembl chr12:32,399,558...32,646,050 		JBrowse link
G FLNC filamin C IAGP HPO ORPHA:63273 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 IAGP HPO ORPHA:139536 NCBI chr 7:30,594,735...30,634,033
Ensembl chr 7:30,580,533...30,634,033 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO ORPHA:101097 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G GIPC1 GIPC PDZ domain containing family member 1 IAGP HPO ORPHA:98897 NCBI chr19:14,477,762...14,496,127
Ensembl chr19:14,477,760...14,496,149 		JBrowse link
G GJB1 gap junction protein beta 1 IAGP ClinVar Annotator: match by term: Distal muscle weakness in lower limbs ClinVar
HPO		 PMID:25741868 OMIM:302800 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:363623 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G GNB4 G protein subunit beta 4 IAGP HPO OMIM:615185 NCBI chr 3:179,396,088...179,527,798
Ensembl chr 3:179,396,088...179,451,476 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO OMIM:605820 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP HPO ORPHA:488333 NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537 		JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 IAGP HPO ORPHA:324442 NCBI chr 5:131,159,027...131,165,256
Ensembl chr 5:131,155,383...131,224,468 		JBrowse link
G HK1 hexokinase 1 IAGP HPO OMIM:605285 ORPHA:99953 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 IAGP HPO OMIM:608634 NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,304,295 		JBrowse link
G HSPB3 heat shock protein family B (small) member 3 IAGP HPO OMIM:613376 NCBI chr 5:54,455,699...54,456,377
Ensembl chr 5:54,455,699...54,456,377 		JBrowse link
G HSPB8 heat shock protein family B (small) member 8 IAGP HPO OMIM:158590 NCBI chr12:119,178,931...119,194,746
Ensembl chr12:119,171,555...119,224,855 		JBrowse link
G IBA57 iron-sulfur cluster assembly factor IBA57 IAGP HPO ORPHA:468661 NCBI chr 1:228,165,804...228,182,257
Ensembl chr 1:228,165,804...228,182,257 		JBrowse link
G JAG2 jagged canonical Notch ligand 2 IAGP HPO OMIM:619566 NCBI chr14:105,140,995...105,168,776
Ensembl chr14:105,140,982...105,168,824 		JBrowse link
G KIF1A kinesin family member 1A IAGP HPO OMIM:614213 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293 		JBrowse link
G LMNA lamin A/C IAGP HPO OMIM:181350 ORPHA:98856 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LRP12 LDL receptor related protein 12 IAGP HPO ORPHA:98897 NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258 		JBrowse link
G MAPT microtubule associated protein tau IAGP HPO ORPHA:240094 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G MATR3 matrin 3 IAGP HPO OMIM:606070 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 MFN2 mitofusin 2 IAGP HPO ORPHA:99947 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MME membrane metalloendopeptidase IAGP HPO OMIM:617017 ORPHA:497764 NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704 		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 MPZ myelin protein zero IAGP HPO OMIM:145900 NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:320360 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MTMR14 myotubularin related protein 14 IAGP HPO OMIM:160150 NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393 		JBrowse link
G MTTP microsomal triglyceride transfer protein IAGP HPO ORPHA:14 NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO OMIM:160500 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		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 MYOT myotilin IAGP ClinVar Annotator: match by term: Distal lower limb muscle weakness ClinVar PMID:9027924 PMID:12428213 PMID:15111675 PMID:15947064 PMID:16684602 More... NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851 		JBrowse link
G NDRG1 N-myc downstream regulated 1 IAGP HPO ORPHA:99950 NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022 		JBrowse link
G NEFL neurofilament light chain IAGP ClinVar Annotator: match by term: Distal lower limb muscle weakness HPO
ClinVar		 PMID:2288874 PMID:12481988 PMID:15111691 PMID:16452125 PMID:18023247 More... OMIM:607684 ORPHA:101085 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G NOTCH2NLC notch 2 N-terminal like C IAGP HPO ORPHA:98897 NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833 		JBrowse link
G PKD2L2-DT PKD2L2 divergent transcript IAGP ClinVar Annotator: match by term: Distal lower limb muscle weakness ClinVar PMID:9027924 PMID:12428213 PMID:15111675 PMID:15947064 PMID:16684602 More... NCBI chr 5:137,853,811...137,889,319 JBrowse link
G PLEC plectin IAGP HPO ORPHA:254361 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
G PMP2 peripheral myelin protein 2 IAGP HPO OMIM:618279 NCBI chr 8:81,440,326...81,447,439
Ensembl chr 8:81,440,326...81,447,439 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO OMIM:145900 ORPHA:90658 ORPHA:98916 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP HPO ORPHA:459033 NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP HPO OMIM:612020 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		JBrowse link
G PRX periaxin IAGP HPO OMIM:145900 NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793 		JBrowse link
G RAB7A RAB7A, member RAS oncogene family IAGP HPO OMIM:600882 NCBI chr 3:128,726,183...128,814,798
Ensembl chr 3:128,693,669...128,825,942 		JBrowse link
G REEP1 receptor accessory protein 1 IAGP HPO ORPHA:139536 NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083 		JBrowse link
G RILPL1 Rab interacting lysosomal protein like 1 IAGP HPO ORPHA:98897 NCBI chr12:123,470,054...123,533,719
Ensembl chr12:123,470,054...123,533,719 		JBrowse link
G SBF1 SET binding factor 1 IAGP HPO OMIM:615284 NCBI chr22:50,445,000...50,475,035
Ensembl chr22:50,443,219...50,483,923 		JBrowse link
G SBF2 SET binding factor 2 IAGP HPO ORPHA:99956 NCBI chr11:9,778,668...10,303,837
Ensembl chr11:9,776,776...10,304,877 		JBrowse link
G SCYL1 SCY1 like pseudokinase 1 IAGP HPO ORPHA:466794 NCBI chr11:65,525,083...65,538,704
Ensembl chr11:65,525,077...65,538,704 		JBrowse link
G SECISBP2 SECIS binding protein 2 IAGP HPO ORPHA:171706 NCBI chr 9:89,318,500...89,367,117
Ensembl chr 9:89,318,500...89,359,663 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 IAGP HPO OMIM:620068 NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060 		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 SLC5A6 solute carrier family 5 member 6 IAGP HPO OMIM:619903 NCBI chr 2:27,199,587...27,212,787
Ensembl chr 2:27,199,587...27,212,958 		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 SMPX small muscle protein X-linked IAGP HPO OMIM:301075 NCBI chr  X:21,705,978...21,758,116
Ensembl chr  X:21,705,978...21,758,116 		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 SORD sorbitol dehydrogenase IAGP HPO OMIM:618912 NCBI chr15:45,023,195...45,077,185
Ensembl chr15:45,023,147...45,077,185 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO OMIM:616668 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 IAGP HPO OMIM:613640 NCBI chr14:77,505,997...77,616,637
Ensembl chr14:77,505,997...77,616,637 		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 TCAP titin-cap IAGP HPO OMIM:601954 NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554 		JBrowse link
G TDP1 tyrosyl-DNA phosphodiesterase 1 IAGP HPO ORPHA:94124 NCBI chr14:89,954,968...90,044,764
Ensembl chr14:89,954,939...90,044,764 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO OMIM:609284 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:600175 OMIM:606071 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		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 VCP valosin containing protein IAGP HPO OMIM:616687 ORPHA:435387 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP HPO ORPHA:892 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667 		JBrowse link
G VWA1 von Willebrand factor A domain containing 1 IAGP HPO OMIM:619216 NCBI chr 1:1,435,690...1,442,882
Ensembl chr 1:1,434,861...1,442,882 		JBrowse link
G WARS1 tryptophanyl-tRNA synthetase 1 IAGP HPO OMIM:617721 NCBI chr14:100,333,790...100,376,327
Ensembl chr14:100,333,790...100,376,805 		JBrowse link
Distal upper limb amyotrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CADM3 cell adhesion molecule 3 IAGP HPO OMIM:619519 NCBI chr 1:159,171,615...159,203,313
Ensembl chr 1:159,171,609...159,203,313 		JBrowse link
G CEP126 centrosomal protein 126 IAGP HPO ORPHA:65684 NCBI chr11:101,915,010...102,001,062
Ensembl chr11:101,915,010...102,001,062 		JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP HPO ORPHA:65684 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376 		JBrowse link
G DYSF dysferlin IAGP HPO ORPHA:45448 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G FBLN5 fibulin 5 IAGP HPO OMIM:619764 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987 		JBrowse link
G FLNC filamin C IAGP HPO OMIM:614065 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G GIPC1 GIPC PDZ domain containing family member 1 IAGP HPO ORPHA:98897 NCBI chr19:14,477,762...14,496,127
Ensembl chr19:14,477,760...14,496,149 		JBrowse link
G GJB1 gap junction protein beta 1 IAGP HPO OMIM:302800 ORPHA:101075 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516 		JBrowse link
G GNB4 G protein subunit beta 4 IAGP HPO OMIM:615185 NCBI chr 3:179,396,088...179,527,798
Ensembl chr 3:179,396,088...179,451,476 		JBrowse link
G HSPB3 heat shock protein family B (small) member 3 IAGP HPO OMIM:613376 NCBI chr 5:54,455,699...54,456,377
Ensembl chr 5:54,455,699...54,456,377 		JBrowse link
G INF2 inverted formin 2 IAGP HPO OMIM:614455 NCBI chr14:104,689,618...104,722,535
Ensembl chr14:104,681,146...104,722,535 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:98856 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LRP12 LDL receptor related protein 12 IAGP HPO ORPHA:98897 NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258 		JBrowse link
G MATR3 matrin 3 IAGP HPO ORPHA:600 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 NEFL neurofilament light chain IAGP HPO ORPHA:101085 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G NOTCH2NLC notch 2 N-terminal like C IAGP HPO ORPHA:98897 NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833 		JBrowse link
G RILPL1 Rab interacting lysosomal protein like 1 IAGP HPO ORPHA:98897 NCBI chr12:123,470,054...123,533,719
Ensembl chr12:123,470,054...123,533,719 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 IAGP HPO OMIM:620068 NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060 		JBrowse link
G SQSTM1 sequestosome 1 IAGP HPO ORPHA:603 NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
G TIA1 TIA1 cytotoxic granule associated RNA binding protein IAGP HPO ORPHA:603 NCBI chr 2:70,209,444...70,248,793
Ensembl chr 2:70,209,444...70,248,660 		JBrowse link
G TNR tenascin R IAGP HPO OMIM:619653 NCBI chr 1:175,315,194...175,743,595
Ensembl chr 1:175,315,194...175,743,595 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:606071 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G WARS1 tryptophanyl-tRNA synthetase 1 IAGP HPO OMIM:617721 NCBI chr14:100,333,790...100,376,327
Ensembl chr14:100,333,790...100,376,805 		JBrowse link
Finger flexor weakness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYSF dysferlin IAGP HPO ORPHA:178400 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G FLNC filamin C IAGP HPO ORPHA:63273 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
Flexion limitation of toes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNRNPDL heterogeneous nuclear ribonucleoprotein D like IAGP HPO OMIM:609115 NCBI chr 4:82,422,564...82,430,462
Ensembl chr 4:82,422,565...82,430,462 		JBrowse link
Foot dorsiflexor weakness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO OMIM:613287 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO OMIM:616852 ORPHA:171436 ORPHA:2020 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ACTN2 actinin alpha 2 IAGP HPO OMIM:618655 NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631 		JBrowse link
G ADSS1 adenylosuccinate synthase 1 IAGP HPO ORPHA:482601 NCBI chr14:104,724,229...104,747,325
Ensembl chr14:104,724,174...104,747,325 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP ClinVar Annotator: match by term: Footdrop ClinVar PMID:25590979 PMID:25741868 PMID:28492532 PMID:28967629 PMID:31523922 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO OMIM:616586 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		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 ATL1 atlastin GTPase 1 IAGP HPO ORPHA:36386 NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017 		JBrowse link
G ATL3 atlastin GTPase 3 IAGP HPO ORPHA:36386 NCBI chr11:63,624,087...63,671,974
Ensembl chr11:63,624,087...63,671,921 		JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 IAGP HPO OMIM:618036 NCBI chr 1:116,373,244...116,404,774
Ensembl chr 1:116,372,668...116,410,261 		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 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO ORPHA:100998 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G CADM3 cell adhesion molecule 3 IAGP HPO OMIM:619519 NCBI chr 1:159,171,615...159,203,313
Ensembl chr 1:159,171,609...159,203,313 		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 CFL2 cofilin 2 IAGP HPO ORPHA:171436 NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823 		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 COA7 cytochrome c oxidase assembly factor 7 IAGP HPO OMIM:618387 NCBI chr 1:52,684,449...52,698,347
Ensembl chr 1:52,684,449...52,698,347 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:610 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO ORPHA:610 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:610 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:610 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G COX20 cytochrome c oxidase assembly factor COX20 IAGP HPO OMIM:619054 NCBI chr 1:244,835,306...244,845,063
Ensembl chr 1:244,835,616...244,845,057 		JBrowse link
G COX6A1 cytochrome c oxidase subunit 6A1 IAGP HPO OMIM:616039 NCBI chr12:120,438,113...120,440,730
Ensembl chr12:120,438,090...120,440,737 		JBrowse link
G CRYAB crystallin alpha B IAGP HPO OMIM:608810 ORPHA:399058 NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722 		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 DES desmin IAGP HPO OMIM:181400 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 IAGP HPO OMIM:614881 NCBI chr 2:219,279,366...219,286,895
Ensembl chr 2:219,279,342...219,286,898 		JBrowse link
G DYSF dysferlin IAGP ClinVar Annotator: match by term: Foot dorsiflexor weakness ClinVar
HPO		 PMID:25741868 ORPHA:45448 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G EGR2 early growth response 2 IAGP HPO OMIM:145900 OMIM:607678 NCBI chr10:62,811,996...62,819,167
Ensembl chr10:62,811,996...62,819,167 		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 FA2H fatty acid 2-hydroxylase IAGP HPO ORPHA:171629 NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO OMIM:300695 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		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 FLNC filamin C IAGP HPO ORPHA:63273 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		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 GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 IAGP HPO OMIM:606483 NCBI chr10:102,230,643...102,382,896
Ensembl chr10:102,245,371...102,382,899 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO OMIM:608340 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G GIPC1 GIPC PDZ domain containing family member 1 IAGP HPO ORPHA:98897 NCBI chr19:14,477,762...14,496,127
Ensembl chr19:14,477,760...14,496,149 		JBrowse link
G GJB1 gap junction protein beta 1 IAGP HPO ORPHA:1175 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516 		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 GNB2 G protein subunit beta 2 IAGP HPO OMIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO ORPHA:602 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G GYG1 glycogenin 1 IAGP HPO ORPHA:263297 NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775 		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 HINT1 histidine triad nucleotide binding protein 1 IAGP HPO OMIM:137200 ORPHA:324442 NCBI chr 5:131,159,027...131,165,256
Ensembl chr 5:131,155,383...131,224,468 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 IAGP HPO OMIM:615424 ORPHA:803 NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 IAGP HPO OMIM:606595 NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,304,295 		JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 IAGP HPO OMIM:616155 NCBI chr11:68,903,891...68,940,601
Ensembl chr11:68,903,863...68,940,602 		JBrowse link
G INF2 inverted formin 2 IAGP HPO OMIM:614455 NCBI chr14:104,689,618...104,722,535
Ensembl chr14:104,681,146...104,722,535 		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 JAG1 jagged canonical Notch ligand 1 IAGP HPO OMIM:619574 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 IAGP HPO OMIM:613641 NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		JBrowse link
G KIF1A kinesin family member 1A IAGP HPO OMIM:614213 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293 		JBrowse link
G KIF1B kinesin family member 1B IAGP HPO OMIM:118210 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G KLHL41 kelch like family member 41 IAGP HPO ORPHA:171436 NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258 		JBrowse link
G KY kyphoscoliosis peptidase IAGP HPO OMIM:617114 NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636 		JBrowse link
G LBR lamin B receptor IAGP HPO OMIM:169400 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		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 LIG3 DNA ligase 3 IAGP HPO ORPHA:298 NCBI chr17:34,980,512...35,010,872
Ensembl chr17:34,980,512...35,009,743 		JBrowse link
G LMNA lamin A/C IAGP HPO OMIM:181350 OMIM:605588 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LMOD3 leiomodin 3 IAGP HPO ORPHA:171436 NCBI chr 3:69,106,065...69,122,595
Ensembl chr 3:69,106,065...69,123,032 		JBrowse link
G LRP12 LDL receptor related protein 12 IAGP HPO OMIM:164310 ORPHA:98897 NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258 		JBrowse link
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 IAGP HPO OMIM:614436 NCBI chr 9:127,451,486...127,503,501
Ensembl chr 9:127,451,489...127,503,499 		JBrowse link
G LYST lysosomal trafficking regulator IAGP HPO OMIM:214500 NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724 		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 MARS1 methionyl-tRNA synthetase 1 IAGP HPO OMIM:616280 NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569 		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 MCM3AP minichromosome maintenance complex component 3 associated protein IAGP HPO OMIM:618124 NCBI chr21:46,235,133...46,286,265
Ensembl chr21:46,235,133...46,286,297 		JBrowse link
G MFN2 mitofusin 2 IAGP HPO OMIM:609260 OMIM:617087 ORPHA:99947 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MME membrane metalloendopeptidase IAGP HPO OMIM:617017 ORPHA:497764 NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704 		JBrowse link
G MORC2 MORC family CW-type zinc finger 2 IAGP HPO OMIM:616688 ORPHA:466768 NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 IAGP HPO OMIM:618400 NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680 		JBrowse link
G MPZ myelin protein zero IAGP HPO OMIM:118200 OMIM:145900 OMIM:607736 NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue IAGP HPO OMIM:615035 ORPHA:320375 NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO ORPHA:59135 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYL2 myosin light chain 2 IAGP HPO ORPHA:2020 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,910,819...110,921,443 		JBrowse link
G MYOT myotilin IAGP ClinVar Annotator: match by term: Foot dorsiflexor weakness ClinVar
HPO		 PMID:9027924 PMID:12428213 PMID:15111675 PMID:15947064 PMID:16684602 More... ORPHA:266 NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851 		JBrowse link
G NEB nebulin IAGP HPO OMIM:256030 ORPHA:171436 ORPHA:399103 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 NEFL neurofilament light chain IAGP HPO OMIM:607684 ORPHA:101085 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		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 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:637 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598 		JBrowse link
G NOTCH2NLC notch 2 N-terminal like C IAGP HPO ORPHA:98897 NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833 		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 PKD2L2-DT PKD2L2 divergent transcript IAGP ClinVar Annotator: match by term: Foot dorsiflexor weakness ClinVar PMID:9027924 PMID:12428213 PMID:15111675 PMID:15947064 PMID:16684602 More... NCBI chr 5:137,853,811...137,889,319 JBrowse link
G PLIN4 perilipin 4 IAGP HPO OMIM:601846 NCBI chr19:4,502,192...4,518,486
Ensembl chr19:4,502,192...4,518,486 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO OMIM:118220 OMIM:118300 OMIM:145900 ORPHA:90658 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP HPO ORPHA:98908 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO ORPHA:298 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		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 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 PRX periaxin IAGP HPO OMIM:145900 NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family IAGP ClinVar Annotator: match by term: Footdrop ClinVar PMID:25590979 PMID:25741868 PMID:28492532 PMID:28967629 PMID:31523922 NCBI chr  X:130,110,623...130,184,870
Ensembl chr  X:130,171,962...130,184,870 		JBrowse link
G RAB7A RAB7A, member RAS oncogene family IAGP HPO OMIM:600882 NCBI chr 3:128,726,183...128,814,798
Ensembl chr 3:128,693,669...128,825,942 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO ORPHA:477817 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G REEP1 receptor accessory protein 1 IAGP HPO OMIM:620011 NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083 		JBrowse link
G RILPL1 Rab interacting lysosomal protein like 1 IAGP HPO ORPHA:98897 NCBI chr12:123,470,054...123,533,719
Ensembl chr12:123,470,054...123,533,719 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO ORPHA:298 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G SACS sacsin molecular chaperone IAGP HPO ORPHA:98 NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763 		JBrowse link
G SBF2 SET binding factor 2 IAGP HPO OMIM:604563 NCBI chr11:9,778,668...10,303,837
Ensembl chr11:9,776,776...10,304,877 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP HPO ORPHA:521411 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461 		JBrowse link
G SELENON selenoprotein N IAGP HPO ORPHA:2020 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP HPO ORPHA:99949 NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 IAGP HPO OMIM:605726 NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 IAGP HPO OMIM:620068 NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060 		JBrowse link
G SLC25A21 solute carrier family 25 member 21 IAGP HPO OMIM:618811 NCBI chr14:36,677,921...37,172,606
Ensembl chr14:36,677,921...37,172,606 		JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP HPO OMIM:158901 NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017 		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 SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO OMIM:616668 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP HPO ORPHA:36386 NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413 		JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 IAGP HPO ORPHA:36386 NCBI chr14:77,505,997...77,616,637
Ensembl chr14:77,505,997...77,616,637 		JBrowse link
G SQSTM1 sequestosome 1 IAGP HPO OMIM:617158 ORPHA:603 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 OMIM:616040 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 TBCE tubulin folding cofactor E IAGP HPO OMIM:617207 ORPHA:496756 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		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 TCAP titin-cap IAGP HPO OMIM:601954 NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554 		JBrowse link
G TIA1 TIA1 cytotoxic granule associated RNA binding protein IAGP HPO ORPHA:603 NCBI chr 2:70,209,444...70,248,793
Ensembl chr 2:70,209,444...70,248,660 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP HPO OMIM:620389 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:171436 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 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 TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:606071 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TTN titin IAGP HPO OMIM:603689 ORPHA:178464 ORPHA:609 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TYMP thymidine phosphorylase IAGP HPO ORPHA:298 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032 		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 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:329478 ORPHA:435387 ORPHA:803 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G VWA1 von Willebrand factor A domain containing 1 IAGP HPO OMIM:619216 NCBI chr 1:1,435,690...1,442,882
Ensembl chr 1:1,434,861...1,442,882 		JBrowse link
Generalized weakness of limb muscles term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG1 adhesion G protein-coupled receptor G1 IAGP ClinVar Annotator: match by term: Generalized weakness of limb muscles ClinVar NCBI chr16:57,619,738...57,665,567
Ensembl chr16:57,610,652...57,665,580 		JBrowse link
G ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit IAGP HPO ORPHA:353327 NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951 		JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP HPO ORPHA:353327 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP HPO ORPHA:353327 NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331 		JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 IAGP HPO ORPHA:353327 NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:353327 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
Hand muscle atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO OMIM:616852 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP HPO OMIM:205100 NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO ORPHA:100998 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO OMIM:601462 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G DCTN1 dynactin subunit 1 IAGP HPO OMIM:607641 NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087 		JBrowse link
G FXN frataxin IAGP HPO ORPHA:95 NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO ORPHA:99944 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G GJB1 gap junction protein beta 1 IAGP ClinVar Annotator: match by term: Hand muscle degeneration
ClinVar Annotator: match by term: Hand muscle atrophy		 ClinVar PMID:25741868 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516 		JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 IAGP HPO ORPHA:324442 NCBI chr 5:131,159,027...131,165,256
Ensembl chr 5:131,155,383...131,224,468 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO ORPHA:363958 ORPHA:363965 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:98856 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G MARS1 methionyl-tRNA synthetase 1 IAGP HPO OMIM:616280 NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569 		JBrowse link
G NEFL neurofilament light chain IAGP ClinVar Annotator: match by term: Hand muscle atrophy HPO
ClinVar		 PMID:2288874 PMID:12481988 PMID:15111691 PMID:16452125 PMID:18023247 More... OMIM:607684 ORPHA:101085 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO ORPHA:90658 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G SLC25A21 solute carrier family 25 member 21 IAGP HPO OMIM:618811 NCBI chr14:36,677,921...37,172,606
Ensembl chr14:36,677,921...37,172,606 		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 TFG trafficking from ER to golgi regulator IAGP HPO OMIM:615658 NCBI chr 3:100,709,290...100,748,967
Ensembl chr 3:100,709,295...100,748,964 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:606071 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G VCP valosin containing protein IAGP HPO ORPHA:435387 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
Hand muscle weakness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BICD2 BICD cargo adaptor 2 IAGP HPO ORPHA:363454 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO ORPHA:100998 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G CAV3 caveolin 3 IAGP HPO OMIM:614321 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808 		JBrowse link
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase IAGP HPO ORPHA:98915 NCBI chr 3:15,450,133...15,521,706
Ensembl chr 3:15,450,133...15,521,751 		JBrowse link
G DCTN1 dynactin subunit 1 IAGP HPO OMIM:607641 NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO ORPHA:101097 ORPHA:99948 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G GJB1 gap junction protein beta 1 IAGP HPO OMIM:302800 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516 		JBrowse link
G GYG1 glycogenin 1 IAGP HPO OMIM:616199 NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP HPO ORPHA:488333 NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537 		JBrowse link
G HSPB3 heat shock protein family B (small) member 3 IAGP HPO OMIM:613376 NCBI chr 5:54,455,699...54,456,377
Ensembl chr 5:54,455,699...54,456,377 		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 LMNA lamin A/C IAGP HPO ORPHA:98856 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G MARS1 methionyl-tRNA synthetase 1 IAGP HPO OMIM:616280 NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569 		JBrowse link
G MATR3 matrin 3 IAGP HPO OMIM:606070 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 MFN2 mitofusin 2 IAGP HPO ORPHA:99947 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		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 NEFL neurofilament light chain IAGP HPO ORPHA:101085 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G PDK3 pyruvate dehydrogenase kinase 3 IAGP HPO OMIM:300905 NCBI chr  X:24,465,286...24,550,466
Ensembl chr  X:24,465,244...24,550,466 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO OMIM:162500 ORPHA:90658 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP HPO ORPHA:98908 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO ORPHA:254886 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G REEP1 receptor accessory protein 1 IAGP HPO ORPHA:101011 NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083 		JBrowse link
G SBF2 SET binding factor 2 IAGP HPO ORPHA:99956 NCBI chr11:9,778,668...10,303,837
Ensembl chr11:9,776,776...10,304,877 		JBrowse link
G TK2 thymidine kinase 2 IAGP HPO ORPHA:254886 NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544 		JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 IAGP HPO OMIM:608323 NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031 		JBrowse link
Hip flexor weakness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGRN agrin IAGP HPO ORPHA:98913 NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118 		JBrowse link
G AK9 adenylate kinase 9 IAGP HPO ORPHA:98913 NCBI chr 6:109,492,855...109,691,202
Ensembl chr 6:109,492,855...109,691,217 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO ORPHA:98913 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit IAGP HPO ORPHA:98913 NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP HPO ORPHA:98913 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP HPO ORPHA:98913 NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438 		JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP HPO ORPHA:98913 NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP ClinVar Annotator: match by term: Hip flexor weakness ClinVar PMID:19309692 PMID:20576434 PMID:21280092 PMID:24033266 PMID:24314752 More... NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G DOK7 docking protein 7 IAGP HPO ORPHA:98913 NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G FLNC filamin C IAGP HPO ORPHA:63273 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO ORPHA:602 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO ORPHA:98913 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO ORPHA:98913 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G MYOT myotilin IAGP HPO ORPHA:266 NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP HPO ORPHA:98913 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO ORPHA:98913 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
Hypoplasia of deltoid muscle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SALL4 spalt like transcription factor 4 IAGP HPO OMIM:147750 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
Hypotrophy of the small hand muscles term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP HPO ORPHA:1826 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO OMIM:610443 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
Intrinsic hand muscle atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAV3 caveolin 3 IAGP HPO OMIM:614321 ORPHA:488650 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808 		JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 IAGP HPO ORPHA:276435 NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO OMIM:601462 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G DYSF dysferlin IAGP HPO ORPHA:178400 ORPHA:45448 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G FLNC filamin C IAGP HPO ORPHA:63273 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO ORPHA:101097 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP HPO ORPHA:488333 NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537 		JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 IAGP HPO ORPHA:324442 NCBI chr 5:131,159,027...131,165,256
Ensembl chr 5:131,155,383...131,224,468 		JBrowse link
G HSPB3 heat shock protein family B (small) member 3 IAGP HPO OMIM:613376 NCBI chr 5:54,455,699...54,456,377
Ensembl chr 5:54,455,699...54,456,377 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 IAGP HPO OMIM:619574 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G KIF1A kinesin family member 1A IAGP HPO OMIM:614213 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293 		JBrowse link
G KLHL9 kelch like family member 9 IAGP HPO ORPHA:399081 NCBI chr 9:21,329,665...21,335,404
Ensembl chr 9:21,329,665...21,335,404 		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 MORC2 MORC family CW-type zinc finger 2 IAGP HPO OMIM:616688 NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774 		JBrowse link
G MPZ myelin protein zero IAGP HPO ORPHA:3115 NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968 		JBrowse link
G NGLY1 N-glycanase 1 IAGP HPO OMIM:615273 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039 		JBrowse link
G PDK3 pyruvate dehydrogenase kinase 3 IAGP HPO OMIM:300905 NCBI chr  X:24,465,286...24,550,466
Ensembl chr  X:24,465,244...24,550,466 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO ORPHA:3115 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G PRX periaxin IAGP HPO OMIM:614895 NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:178145 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 IAGP HPO OMIM:620068 NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060 		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:603 NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
G SVBP small vasohibin binding protein IAGP HPO OMIM:618569 NCBI chr 1:42,807,052...42,817,397
Ensembl chr 1:42,807,052...42,817,397 		JBrowse link
G TIA1 TIA1 cytotoxic granule associated RNA binding protein IAGP HPO ORPHA:603 NCBI chr 2:70,209,444...70,248,793
Ensembl chr 2:70,209,444...70,248,660 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP HPO OMIM:304700 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742 		JBrowse link
G TRIM2 tripartite motif containing 2 IAGP HPO OMIM:615490 NCBI chr 4:153,152,163...153,339,317
Ensembl chr 4:153,152,163...153,339,319 		JBrowse link
G VCP valosin containing protein IAGP HPO ORPHA:329478 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
Leg muscle stiffness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO ORPHA:139399 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G ANO10 anoctamin 10 IAGP HPO ORPHA:284289 NCBI chr 3:43,365,848...43,691,594
Ensembl chr 3:43,354,859...43,691,594 		JBrowse link
G ATP13A2 ATPase cation transporting 13A2 IAGP HPO OMIM:606693 ORPHA:306674 NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928 		JBrowse link
G CRYAB crystallin alpha B IAGP HPO OMIM:608810 NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722 		JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial IAGP HPO ORPHA:137898 NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808 		JBrowse link
G DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 IAGP HPO ORPHA:391411 NCBI chr 1:65,264,749...65,415,871
Ensembl chr 1:65,248,219...65,415,871 		JBrowse link
G KIF1A kinesin family member 1A IAGP HPO ORPHA:101010 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293 		JBrowse link
G KIF5A kinesin family member 5A IAGP HPO ORPHA:100991 NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		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 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:320360 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO OMIM:619621 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PODXL podocalyxin like IAGP HPO ORPHA:391411 NCBI chr 7:131,500,271...131,556,628
Ensembl chr 7:131,500,262...131,558,217 		JBrowse link
G SPAST spastin IAGP HPO ORPHA:100985 NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637 		JBrowse link
G SYNJ1 synaptojanin 1 IAGP HPO OMIM:615530 ORPHA:391411 NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP HPO OMIM:108600 ORPHA:251282 NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677 		JBrowse link
G ZFYVE26 zinc finger FYVE-type containing 26 IAGP HPO ORPHA:100996 NCBI chr14:67,728,892...67,816,590
Ensembl chr14:67,727,374...67,816,590 		JBrowse link
Limb hypertonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO ORPHA:442835 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G ACTL6B actin like 6B IAGP HPO ORPHA:442835 NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448 		JBrowse link
G ADCY5 adenylate cyclase 5 IAGP HPO OMIM:606703 ORPHA:324588 NCBI chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090 		JBrowse link
G ADGRG1 adhesion G protein-coupled receptor G1 IAGP HPO ORPHA:98889 NCBI chr16:57,619,738...57,665,567
Ensembl chr16:57,610,652...57,665,580 		JBrowse link
G AFG2A AFG2 AAA ATPase homolog A IAGP HPO ORPHA:457351 NCBI chr 4:122,923,078...123,319,433
Ensembl chr 4:122,923,070...123,319,433 		JBrowse link
G ALG11 ALG11 alpha-1,2-mannosyltransferase IAGP HPO ORPHA:280071 NCBI chr13:52,012,398...52,033,600
Ensembl chr13:52,012,391...52,079,232 		JBrowse link
G AP3B2 adaptor related protein complex 3 subunit beta 2 IAGP HPO OMIM:617276 ORPHA:442835 NCBI chr15:82,659,281...82,709,875
Ensembl chr15:82,659,281...82,710,112 		JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 IAGP HPO OMIM:612936 NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,898...100,110,345 		JBrowse link
G ARSI arylsulfatase family member I IAGP HPO ORPHA:401815 NCBI chr 5:150,296,343...150,302,905
Ensembl chr 5:150,296,343...150,339,307 		JBrowse link
G ARV1 ARV1 homolog, fatty acid homeostasis modulator IAGP HPO OMIM:617020 ORPHA:442835 NCBI chr 1:230,979,094...231,000,733
Ensembl chr 1:230,978,981...231,000,733 		JBrowse link
G ASNS asparagine synthetase (glutamine-hydrolyzing) IAGP HPO OMIM:615574 NCBI chr 7:97,851,677...97,928,441
Ensembl chr 7:97,851,677...97,872,542 		JBrowse link
G ASXL2 ASXL transcriptional regulator 2 IAGP HPO OMIM:617190 NCBI chr 2:25,733,753...25,878,487
Ensembl chr 2:25,733,753...25,878,487 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP HPO ORPHA:442835 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP HPO ORPHA:442835 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A IAGP HPO ORPHA:442835 NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056 		JBrowse link
G BRAT1 BRCA1 associated ATM activator 1 IAGP HPO OMIM:614498 OMIM:618056 NCBI chr 7:2,537,810...2,555,524
Ensembl chr 7:2,537,810...2,555,694 		JBrowse link
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit IAGP HPO ORPHA:444072 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP HPO ORPHA:442835 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025 		JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B IAGP HPO ORPHA:442835 NCBI chr 9:137,877,782...138,124,619
Ensembl chr 9:137,877,782...138,124,624 		JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G IAGP HPO OMIM:618087 NCBI chr17:50,560,715...50,627,474
Ensembl chr17:50,560,715...50,627,474 		JBrowse link
G CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 IAGP HPO ORPHA:442835 NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956 		JBrowse link
G CAMSAP1 calmodulin regulated spectrin associated protein 1 IAGP HPO OMIM:620316 NCBI chr 9:135,808,487...135,907,546
Ensembl chr 9:135,808,487...135,907,546 		JBrowse link
G CDC42BPB CDC42 binding protein kinase beta IAGP HPO OMIM:619841 NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549 		JBrowse link
G CDK19 cyclin dependent kinase 19 IAGP HPO ORPHA:442835 NCBI chr 6:110,609,978...110,815,855
Ensembl chr 6:110,609,978...110,815,958 		JBrowse link
G CELF2 CUGBP Elav-like family member 2 IAGP HPO ORPHA:442835 NCBI chr10:10,462,550...11,336,675
Ensembl chr10:10,798,397...11,336,675 		JBrowse link
G CLP1 cleavage factor polyribonucleotide kinase subunit 1 IAGP HPO OMIM:615803 NCBI chr11:57,657,762...57,661,865
Ensembl chr11:57,648,188...57,661,865 		JBrowse link
G CLTC clathrin heavy chain IAGP HPO ORPHA:442835 NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,684...59,696,956 		JBrowse link
G CNKSR2 connector enhancer of kinase suppressor of Ras 2 IAGP HPO ORPHA:442835 NCBI chr  X:21,374,418...21,654,689
Ensembl chr  X:21,372,801...21,654,695 		JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP HPO OMIM:613489 ORPHA:263501 NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560 		JBrowse link
G CYFIP2 cytoplasmic FMR1 interacting protein 2 IAGP HPO ORPHA:442835 NCBI chr 5:157,266,123...157,395,594
Ensembl chr 5:157,266,079...157,395,595 		JBrowse link
G DALRD3 DALR anticodon binding domain containing 3 IAGP HPO ORPHA:442835 NCBI chr 3:49,015,488...49,021,505
Ensembl chr 3:49,015,488...49,022,293 		JBrowse link
G DDC dopa decarboxylase IAGP HPO OMIM:608643 ORPHA:35708 NCBI chr 7:50,458,442...50,565,405
Ensembl chr 7:50,458,436...50,565,405 		JBrowse link
G DHDDS dehydrodolichyl diphosphate synthase subunit IAGP HPO ORPHA:442835 NCBI chr 1:26,432,321...26,471,306
Ensembl chr 1:26,432,282...26,471,306 		JBrowse link
G DHPS deoxyhypusine synthase IAGP HPO OMIM:618480 NCBI chr19:12,672,470...12,681,880
Ensembl chr19:12,675,717...12,681,880 		JBrowse link
G DNAJC12 DnaJ heat shock protein family (Hsp40) member C12 IAGP HPO OMIM:617384 NCBI chr10:67,796,669...67,838,188
Ensembl chr10:67,796,669...67,838,188 		JBrowse link
G DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 IAGP HPO OMIM:615528 NCBI chr 1:65,264,749...65,415,871
Ensembl chr 1:65,248,219...65,415,871 		JBrowse link
G DNM1 dynamin 1 IAGP HPO ORPHA:442835 NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP HPO OMIM:614219 NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524 		JBrowse link
G DPH5 diphthamide biosynthesis 5 IAGP HPO OMIM:620070 NCBI chr 1:100,989,623...101,025,784
Ensembl chr 1:100,989,623...101,026,088 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO ORPHA:401973 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 IAGP HPO ORPHA:442835 NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239 		JBrowse link
G ELOVL4 ELOVL fatty acid elongase 4 IAGP HPO OMIM:614457 NCBI chr 6:79,914,814...79,947,553
Ensembl chr 6:79,914,814...79,947,553 		JBrowse link
G EMC1 ER membrane protein complex subunit 1 IAGP HPO OMIM:616875 ORPHA:480898 NCBI chr 1:19,215,660...19,251,524
Ensembl chr 1:19,215,660...19,251,552 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO ORPHA:90322 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO ORPHA:90322 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO ORPHA:90322 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G FBXO28 F-box protein 28 IAGP HPO ORPHA:442835 NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047 		JBrowse link
G FGF12 fibroblast growth factor 12 IAGP HPO ORPHA:442835 NCBI chr 3:192,139,390...192,727,541
Ensembl chr 3:192,139,390...192,767,764 		JBrowse link
G FGF13 fibroblast growth factor 13 IAGP HPO OMIM:301058 ORPHA:442835 NCBI chr  X:138,614,727...139,205,023
Ensembl chr  X:138,614,727...139,222,777 		JBrowse link
G FOXG1 forkhead box G1 IAGP HPO ORPHA:442835 NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277 		JBrowse link
G FRMD4A FERM domain containing 4A IAGP HPO ORPHA:466688 NCBI chr10:13,643,706...14,330,924
Ensembl chr10:13,643,706...14,462,142 		JBrowse link
G FZR1 fizzy and cell division cycle 20 related 1 IAGP HPO ORPHA:442835 NCBI chr19:3,506,311...3,538,334
Ensembl chr19:3,506,311...3,538,334 		JBrowse link
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 IAGP HPO ORPHA:442835 NCBI chr 9:98,288,109...98,708,935
Ensembl chr 9:98,288,109...98,708,935 		JBrowse link
G GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 IAGP HPO ORPHA:442835 NCBI chr 4:46,243,548...46,390,300
Ensembl chr 4:46,243,548...46,475,230 		JBrowse link
G GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 IAGP HPO ORPHA:442835 NCBI chr15:26,866,719...26,949,208
Ensembl chr15:26,866,911...26,949,208 		JBrowse link
G GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 IAGP HPO ORPHA:442835 NCBI chr 5:161,288,436...161,548,404
Ensembl chr 5:161,288,429...161,549,044 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP HPO ORPHA:442835 NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977 		JBrowse link
G GCH1 GTP cyclohydrolase 1 IAGP HPO OMIM:233910 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826 		JBrowse link
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 IAGP HPO ORPHA:565624 NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147 		JBrowse link
G GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by term: Limb hypertonia ClinVar
HPO		 PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... OMIM:616973 ORPHA:488613 NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292 		JBrowse link
G GPHN gephyrin IAGP HPO OMIM:615501 NCBI chr14:66,508,147...67,735,355
Ensembl chr14:66,507,407...67,181,803 		JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 IAGP HPO OMIM:619580 NCBI chr 6:101,393,708...102,070,083
Ensembl chr 6:100,962,701...102,081,622 		JBrowse link
G GRIN2D glutamate ionotropic receptor NMDA type subunit 2D IAGP HPO OMIM:617162 ORPHA:442835 NCBI chr19:48,393,668...48,444,931
Ensembl chr19:48,393,668...48,444,931 		JBrowse link
G GRM7 glutamate metabotropic receptor 7 IAGP HPO OMIM:618922 NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533 		JBrowse link
G H4C5 H4 clustered histone 5 IAGP HPO OMIM:619950 NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021 		JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 IAGP HPO ORPHA:442835 NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498 		JBrowse link
G HK1 hexokinase 1 IAGP HPO OMIM:618547 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO OMIM:615846 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G KATNB1 katanin regulatory subunit B1 IAGP HPO OMIM:616212 NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244 		JBrowse link
G KCNA2 potassium voltage-gated channel subfamily A member 2 IAGP HPO ORPHA:442835 NCBI chr 1:110,593,580...110,631,440
Ensembl chr 1:110,519,837...110,631,474 		JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 IAGP HPO ORPHA:442835 NCBI chr20:49,363,877...49,483,362
Ensembl chr20:49,293,394...49,484,297 		JBrowse link
G KIDINS220 kinase D interacting substrate 220 IAGP HPO OMIM:617296 NCBI chr 2:8,721,081...8,837,613
Ensembl chr 2:8,721,081...8,837,630 		JBrowse link
G KIFBP kinesin family binding protein IAGP HPO OMIM:609460 NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544 		JBrowse link
G MED11 mediator complex subunit 11 IAGP HPO OMIM:620327 NCBI chr17:4,731,428...4,733,607
Ensembl chr17:4,731,428...4,733,608 		JBrowse link
G MINPP1 multiple inositol-polyphosphate phosphatase 1 IAGP HPO OMIM:619527 NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461 		JBrowse link
G NCAPD3 non-SMC condensin II complex subunit D3 IAGP HPO OMIM:617984 NCBI chr11:134,150,113...134,225,461
Ensembl chr11:134,150,113...134,225,504 		JBrowse link
G NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 IAGP HPO OMIM:618247 NCBI chr12:4,649,114...4,694,317
Ensembl chr12:4,649,095...4,694,317 		JBrowse link
G NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 IAGP HPO OMIM:619170 NCBI chr11:78,068,297...78,079,862
Ensembl chr11:78,068,297...78,079,862 		JBrowse link
G NECAP1 NECAP endocytosis associated 1 IAGP HPO OMIM:615833 ORPHA:442835 NCBI chr12:8,082,274...8,097,881
Ensembl chr12:8,076,939...8,097,881 		JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 IAGP HPO ORPHA:442835 NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751 		JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit IAGP HPO ORPHA:442835 NCBI chr 6:117,675,469...117,710,727
Ensembl chr 6:117,675,469...117,710,727 		JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 IAGP HPO OMIM:259720 NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854 		JBrowse link
G PACS2 phosphofurin acidic cluster sorting protein 2 IAGP HPO ORPHA:442835 NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147 		JBrowse link
G PARS2 prolyl-tRNA synthetase 2, mitochondrial IAGP HPO ORPHA:442835 NCBI chr 1:54,756,898...54,764,523
Ensembl chr 1:54,756,898...54,764,523 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha IAGP HPO OMIM:606054 NCBI chr13:100,089,093...100,530,435
Ensembl chr13:100,089,015...100,530,437 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta IAGP HPO OMIM:606054 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO ORPHA:98889 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PIGP phosphatidylinositol glycan anchor biosynthesis class P IAGP HPO OMIM:617599 NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170 		JBrowse link
G PLAA phospholipase A2 activating protein IAGP HPO ORPHA:521426 NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO ORPHA:3455 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha IAGP HPO ORPHA:442835 NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278 		JBrowse link
G PRDM13 PR/SET domain 13 IAGP HPO OMIM:619909 NCBI chr 6:99,606,833...99,615,562
Ensembl chr 6:99,606,774...99,615,578 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP HPO ORPHA:423479 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		JBrowse link
G PTS 6-pyruvoyltetrahydropterin synthase IAGP HPO OMIM:261640 NCBI chr11:112,226,428...112,233,973
Ensembl chr11:112,226,367...112,269,955 		JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 IAGP HPO ORPHA:481152 NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340 		JBrowse link
G RHOBTB2 Rho related BTB domain containing 2 IAGP HPO OMIM:618004 NCBI chr 8:22,950,813...23,020,199
Ensembl chr 8:22,987,417...23,020,509 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP HPO ORPHA:442835 NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP HPO ORPHA:442835 NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864 		JBrowse link
G SLC13A5 solute carrier family 13 member 5 IAGP HPO OMIM:615905 ORPHA:442835 NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377 		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 SLC1A2 solute carrier family 1 member 2 IAGP HPO ORPHA:442835 NCBI chr11:35,251,205...35,420,507
Ensembl chr11:35,251,205...35,420,063 		JBrowse link
G SLC25A19 solute carrier family 25 member 19 IAGP HPO OMIM:607196 ORPHA:99742 NCBI chr17:75,272,992...75,289,433
Ensembl chr17:75,272,981...75,289,510 		JBrowse link
G SLC30A9 solute carrier family 30 member 9 IAGP HPO OMIM:617595 NCBI chr 4:41,990,530...42,090,461
Ensembl chr 4:41,990,502...42,090,461 		JBrowse link
G SLC31A1 solute carrier family 31 member 1 IAGP HPO OMIM:620306 NCBI chr 9:113,221,544...113,264,492
Ensembl chr 9:113,221,544...113,264,492 		JBrowse link
G SLC38A3 solute carrier family 38 member 3 IAGP HPO ORPHA:442835 NCBI chr 3:50,205,271...50,221,486
Ensembl chr 3:50,205,246...50,221,486 		JBrowse link
G SLC6A3 solute carrier family 6 member 3 IAGP HPO ORPHA:238455 NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440 		JBrowse link
G SMG9 SMG9 nonsense mediated mRNA decay factor IAGP HPO OMIM:616920 NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962 		JBrowse link
G SPR sepiapterin reductase IAGP HPO ORPHA:70594 NCBI chr 2:72,887,408...72,892,158
Ensembl chr 2:72,887,382...72,892,158 		JBrowse link
G SRPX2 sushi repeat containing protein X-linked 2 IAGP HPO ORPHA:98889 NCBI chr  X:100,644,199...100,675,788
Ensembl chr  X:100,644,195...100,675,788 		JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 IAGP HPO ORPHA:442835 NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689 		JBrowse link
G SYNJ1 synaptojanin 1 IAGP HPO ORPHA:442835 NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040 		JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex IAGP HPO ORPHA:442835 NCBI chr 1:43,389,899...43,454,247
Ensembl chr 1:43,389,882...43,454,247 		JBrowse link
G TARS2 threonyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:615918 NCBI chr 1:150,487,419...150,507,602
Ensembl chr 1:150,487,414...150,507,602 		JBrowse link
G TRAK1 trafficking kinesin protein 1 IAGP HPO ORPHA:442835 NCBI chr 3:42,013,093...42,225,890
Ensembl chr 3:42,013,802...42,225,890 		JBrowse link
G TSEN2 tRNA splicing endonuclease subunit 2 IAGP HPO OMIM:612389 NCBI chr 3:12,480,231...12,539,624
Ensembl chr 3:12,484,421...12,541,549 		JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 IAGP HPO ORPHA:442835 NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,679,794 		JBrowse link
G UBTF upstream binding transcription factor IAGP HPO ORPHA:500180 NCBI chr17:44,205,040...44,221,304
Ensembl chr17:44,205,033...44,221,626 		JBrowse link
G UFC1 ubiquitin-fold modifier conjugating enzyme 1 IAGP HPO OMIM:618076 NCBI chr 1:161,153,978...161,158,856
Ensembl chr 1:161,152,776...161,158,856 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP HPO OMIM:620028 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979 		JBrowse link
G USP8 ubiquitin specific peptidase 8 IAGP HPO ORPHA:401795 NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421 		JBrowse link
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial IAGP HPO OMIM:617710 ORPHA:572798 NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,031,216...119,140,654 		JBrowse link
G WDR48 WD repeat domain 48 IAGP HPO ORPHA:401800 NCBI chr 3:39,052,016...39,096,664
Ensembl chr 3:39,052,013...39,096,671 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO ORPHA:442835 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma IAGP HPO ORPHA:442835 NCBI chr 7:76,326,799...76,358,991
Ensembl chr 7:76,326,799...76,358,991 		JBrowse link
Limb muscle weakness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOX1 acyl-CoA oxidase 1 IAGP HPO OMIM:618960 NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO OMIM:161800 ORPHA:171439 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ALAD aminolevulinate dehydratase IAGP HPO ORPHA:100924 NCBI chr 9:113,386,312...113,401,284
Ensembl chr 9:113,386,312...113,401,290 		JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 IAGP HPO ORPHA:45 NCBI chr 1:114,673,098...114,695,546
Ensembl chr 1:114,673,090...114,695,618 		JBrowse link
G AMPD3 adenosine monophosphate deaminase 3 IAGP HPO ORPHA:45 NCBI chr11:10,450,388...10,507,579
Ensembl chr11:10,308,313...10,507,579 		JBrowse link
G AR androgen receptor IAGP HPO OMIM:313200 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G ATP7B ATPase copper transporting beta IAGP HPO OMIM:277900 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		JBrowse link
G BTD biotinidase IAGP HPO ORPHA:79241 NCBI chr 3:15,601,361...15,722,516
Ensembl chr 3:15,601,341...15,722,311 		JBrowse link
G BVES blood vessel epicardial substance IAGP HPO OMIM:616812 NCBI chr 6:105,096,822...105,137,157
Ensembl chr 6:105,096,822...105,137,157 		JBrowse link
G CCNF cyclin F IAGP HPO OMIM:619141 NCBI chr16:2,429,447...2,458,854
Ensembl chr16:2,429,394...2,458,854 		JBrowse link
G CD59 CD59 molecule (CD59 blood group) IAGP HPO OMIM:612300 NCBI chr11:33,703,010...33,736,479
Ensembl chr11:33,703,010...33,736,479 		JBrowse link
G CFL2 cofilin 2 IAGP HPO OMIM:610687 NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO OMIM:608930 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit IAGP HPO OMIM:616313 NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710 		JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP HPO OMIM:605809 NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438 		JBrowse link
G COA7 cytochrome c oxidase assembly factor 7 IAGP HPO OMIM:618387 NCBI chr 1:52,684,449...52,698,347
Ensembl chr 1:52,684,449...52,698,347 		JBrowse link
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase IAGP HPO OMIM:603034 NCBI chr 3:15,450,133...15,521,706
Ensembl chr 3:15,450,133...15,521,751 		JBrowse link
G DYM dymeclin IAGP HPO ORPHA:239 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP HPO OMIM:614228 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443 		JBrowse link
G GAA alpha glucosidase IAGP HPO OMIM:232300 NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881 		JBrowse link
G GAN gigaxonin IAGP HPO ORPHA:643 NCBI chr16:81,314,962...81,390,809
Ensembl chr16:81,314,944...81,390,809 		JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP HPO OMIM:614409 NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO OMIM:608340 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G GFAP glial fibrillary acidic protein IAGP HPO ORPHA:363722 NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937 		JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 IAGP HPO OMIM:604320 NCBI chr11:68,903,891...68,940,601
Ensembl chr11:68,903,863...68,940,602 		JBrowse link
G KBTBD13 kelch repeat and BTB domain containing 13 IAGP HPO OMIM:609273 ORPHA:171439 NCBI chr15:65,076,746...65,079,948
Ensembl chr15:65,076,746...65,079,948 		JBrowse link
G KIF1B kinesin family member 1B IAGP HPO OMIM:118210 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G KLHL41 kelch like family member 41 IAGP HPO ORPHA:171439 NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258 		JBrowse link
G LAMP2 lysosomal associated membrane protein 2 IAGP HPO OMIM:300257 NCBI chr  X:120,426,148...120,469,349
Ensembl chr  X:120,426,148...120,469,365 		JBrowse link
G LMNA lamin A/C IAGP DNA:deletion, missense mutation, snp:cds, intron:p.K208del, p.R377H, g.IVS9+5G>C HPO
RGD		 PMID:10814726 OMIM:181350, RGD:11062274 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		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 MFN2 mitofusin 2 IAGP HPO OMIM:601152 OMIM:609260 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MPZ myelin protein zero IAGP ClinVar Annotator: match by term: Limb weakness ClinVar
HPO		 PMID:25741868 OMIM:118200 NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968 		JBrowse link
G MTAP methylthioadenosine phosphorylase IAGP HPO OMIM:112250 NCBI chr 9:21,802,636...21,941,115
Ensembl chr 9:21,802,636...21,937,651 		JBrowse link
G MYPN myopalladin IAGP HPO ORPHA:171439 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G NEB nebulin IAGP HPO OMIM:256030 ORPHA:171439 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G NOTCH2NLC notch 2 N-terminal like C IAGP HPO OMIM:619473 NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833 		JBrowse link
G PABPN1 poly(A) binding protein nuclear 1 IAGP HPO OMIM:164300 NCBI chr14:23,321,457...23,326,163
Ensembl chr14:23,321,457...23,326,163 		JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP HPO OMIM:266500 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934 		JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase IAGP HPO OMIM:266500 NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412 		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 PMP22 peripheral myelin protein 22 IAGP HPO OMIM:118220 OMIM:118300 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO OMIM:157640 ORPHA:254892 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP HPO OMIM:610131 ORPHA:254892 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054 		JBrowse link
G PRX periaxin IAGP HPO OMIM:614895 NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793 		JBrowse link
G PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 IAGP HPO OMIM:617258 NCBI chr12:21,437,655...21,471,250
Ensembl chr12:21,437,615...21,471,250 		JBrowse link
G RNASEH1 ribonuclease H1 IAGP HPO ORPHA:329336 NCBI chr 2:3,531,813...3,558,333
Ensembl chr 2:3,541,430...3,558,333 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO ORPHA:254892 ORPHA:329336 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO OMIM:620351 OMIM:620369 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 OMIM:619259 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 IAGP HPO OMIM:218000 NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP HPO ORPHA:254892 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G SLC52A2 solute carrier family 52 member 2 IAGP HPO OMIM:614707 NCBI chr 8:144,358,552...144,361,272
Ensembl chr 8:144,333,957...144,361,286 		JBrowse link
G TIA1 TIA1 cytotoxic granule associated RNA binding protein IAGP HPO OMIM:619133 NCBI chr 2:70,209,444...70,248,793
Ensembl chr 2:70,209,444...70,248,660 		JBrowse link
G TK2 thymidine kinase 2 IAGP HPO OMIM:609560 NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO OMIM:609285 ORPHA:171439 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 ORPHA:171439 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TRIP4 thyroid hormone receptor interactor 4 IAGP HPO ORPHA:486815 NCBI chr15:64,387,836...64,455,303
Ensembl chr15:64,387,748...64,455,303 		JBrowse link
G TWNK twinkle mtDNA helicase IAGP HPO OMIM:609286 ORPHA:254892 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
G VAPB VAMP associated protein B and C onset IAGP DNA:missense mutation:cds:p.P56S RGD PMID:15372378 RGD:5688230 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 OMIM:167320 OMIM:613954 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO OMIM:200150 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
Limb-girdle muscle atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 DGUOK deoxyguanosine kinase IAGP HPO ORPHA:329314 NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961 		JBrowse link
G FKRP fukutin related protein IAGP HPO 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 ORPHA:370980 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		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 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 SGCA sarcoglycan alpha IAGP HPO OMIM:608099 NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,928 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Limb-girdle muscle atrophy ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:25741868 More... 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: Limb-girdle muscle atrophy ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:25741868 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
Limb-girdle muscle weakness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:171436 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		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 ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit IAGP HPO ORPHA:353327 NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951 		JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP HPO OMIM:616228 ORPHA:353327 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G BVES blood vessel epicardial substance IAGP HPO OMIM:616812 NCBI chr 6:105,096,822...105,137,157
Ensembl chr 6:105,096,822...105,137,157 		JBrowse link
G CAPN3 calpain 3 IAGP ClinVar Annotator: match by term: Limb-girdle muscle weakness ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949 		JBrowse link
G CFL2 cofilin 2 IAGP HPO ORPHA:171436 NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823 		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 COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:610 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 OMIM:158810 ORPHA:610 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 ClinVar Annotator: match by term: Limb-girdle muscle weakness HPO
ClinVar		 PMID:16199547 PMID:18366090 PMID:20976770 PMID:21280092 PMID:24801232 More... ORPHA:610 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:610 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO ORPHA:352479 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G CRYAB crystallin alpha B IAGP HPO OMIM:608810 ORPHA:399058 NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722 		JBrowse link
G DAG1 dystroglycan 1 IAGP HPO OMIM:613818 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G DGUOK deoxyguanosine kinase IAGP HPO ORPHA:329314 NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP HPO ORPHA:352470 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121 		JBrowse link
G DNM2 dynamin 2 IAGP ClinVar Annotator: match by term: Limb-girdle muscle weakness ClinVar PMID:25741868 PMID:28492532 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP HPO ORPHA:353327 NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331 		JBrowse link
G DYSF dysferlin IAGP HPO ORPHA:178400 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G FDX2 ferredoxin 2 IAGP HPO OMIM:251900 NCBI chr19:10,310,045...10,316,015
Ensembl chr19:10,309,916...10,316,015 		JBrowse link
G FKRP fukutin related protein IAGP HPO ORPHA:370968 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 IAGP HPO ORPHA:353327 NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO OMIM:615352 ORPHA:353327 ORPHA:370968 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G GYG1 glycogenin 1 IAGP HPO OMIM:616199 NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775 		JBrowse link
G KLHL41 kelch like family member 41 IAGP HPO ORPHA:171436 NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO ORPHA:370968 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		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 LMNA lamin A/C IAGP HPO OMIM:181350 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LMOD3 leiomodin 3 IAGP HPO ORPHA:171436 NCBI chr 3:69,106,065...69,122,595
Ensembl chr 3:69,106,065...69,123,032 		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 MTAP methylthioadenosine phosphorylase IAGP HPO OMIM:112250 NCBI chr 9:21,802,636...21,941,115
Ensembl chr 9:21,802,636...21,937,651 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO OMIM:255160 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		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 ORPHA:171436 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP HPO ORPHA:1215 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G PHKB phosphorylase kinase regulatory subunit beta IAGP HPO ORPHA:79240 NCBI chr16:47,461,299...47,701,523
Ensembl chr16:47,461,123...47,701,523 		JBrowse link
G PLEC plectin IAGP HPO ORPHA:254361 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
G POMK protein O-mannose kinase IAGP HPO OMIM:616094 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO OMIM:609308 ORPHA:370968 ORPHA:86812 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 ORPHA:370968 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Muscular weakness, limb-girdle ClinVar PMID:25741868 PMID:28492532 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SGCA sarcoglycan alpha IAGP HPO OMIM:608099 NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,928 		JBrowse link
G SGCB sarcoglycan beta IAGP HPO OMIM:604286 NCBI chr 4:52,020,706...52,038,299
Ensembl chr 4:52,020,706...52,038,299 		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 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 SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP ClinVar Annotator: match by term: Limb-girdle muscle weakness ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433 		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 TNNT1 troponin T1, slow skeletal type IAGP HPO OMIM:620386 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:171436 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Limb-girdle muscle weakness ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:25741868 More... 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: Limb-girdle muscle weakness ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:25741868 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		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
Limb-girdle muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:97240 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ANO5 anoctamin 5 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar
HPO		 PMID:23606453 PMID:24022920 PMID:25741868 PMID:26467025 PMID:28492532 More... ORPHA:206549 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G ASTN2 astrotactin 2 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:24033266 PMID:28492532 PMID:30823891 PMID:35055178 NCBI chr 9:116,423,112...117,415,057
Ensembl chr 9:116,423,112...117,415,070 		JBrowse link
G ATL1 atlastin GTPase 1 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:25741868 NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017 		JBrowse link
G BVES blood vessel epicardial substance IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:25741868 PMID:31119192 NCBI chr 6:105,096,822...105,137,157
Ensembl chr 6:105,096,822...105,137,157 		JBrowse link
G CAPN3 calpain 3 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:11371436 PMID:15221789 PMID:16141003 PMID:18854869 PMID:19226146 More... NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949 		JBrowse link
G CAV3 caveolin 3 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:9536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 More... NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO OMIM:616052 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G DAG1 dystroglycan 1 IAGP HPO ORPHA:280333 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory IAGP HPO OMIM:612937 NCBI chr 1:155,139,891...155,140,531
Ensembl chr 1:155,139,891...155,140,595 		JBrowse link
G EMD emerin IAGP HPO ORPHA:98863 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO ORPHA:98863 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FKRP fukutin related protein IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 More... NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:25741868 PMID:36745799 NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 IAGP HPO OMIM:615424 NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088 		JBrowse link
G HNRNPDL heterogeneous nuclear ribonucleoprotein D like IAGP HPO OMIM:609115 NCBI chr 4:82,422,564...82,430,462
Ensembl chr 4:82,422,565...82,430,462 		JBrowse link
G LMNA lamin A/C IAGP HPO OMIM:181350 ORPHA:98853 ORPHA:98855 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G OXTR oxytocin receptor IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 More... NCBI chr 3:8,741,269...8,769,613
Ensembl chr 3:8,750,381...8,769,628 		JBrowse link
G POGLUT1 protein O-glucosyltransferase 1 IAGP HPO OMIM:617232 NCBI chr 3:119,468,963...119,494,708
Ensembl chr 3:119,468,963...119,494,708 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO ORPHA:206559 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G SGCA sarcoglycan alpha IAGP HPO OMIM:608099 NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,928 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO ORPHA:98853 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP HPO ORPHA:98853 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433 		JBrowse link
G TMEM43 transmembrane protein 43 IAGP HPO ORPHA:98853 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680 		JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar
HPO		 PMID:23830518 PMID:24033266 PMID:26322222 PMID:27707803 PMID:28492532 More... OMIM:615356 ORPHA:369840 ORPHA:369847 NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594 		JBrowse link
G TRIM32 tripartite motif containing 32 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:24033266 PMID:28492532 PMID:30823891 PMID:35055178 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300 		JBrowse link
G TSPAN1 tetraspanin 1 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar NCBI chr 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:18948003 PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 More... 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: Limb-girdle muscular dystrophy ClinVar PMID:18948003 PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
Lower limb hypertonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 IAGP HPO OMIM:610246 NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227 		JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO ORPHA:447753 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ATL1 atlastin GTPase 1 IAGP HPO ORPHA:100984 NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO OMIM:309580 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G CLDN11 claudin 11 IAGP HPO OMIM:619328 NCBI chr 3:170,418,868...170,434,691
Ensembl chr 3:170,418,868...170,454,733 		JBrowse link
G FA2H fatty acid 2-hydroxylase IAGP HPO ORPHA:171629 NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831 		JBrowse link
G FAR1 fatty acyl-CoA reductase 1 IAGP HPO ORPHA:447753 NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,668,668...13,732,346 		JBrowse link
G GDAP2 ganglioside induced differentiation associated protein 2 IAGP HPO OMIM:618369 NCBI chr 1:117,863,485...117,929,621
Ensembl chr 1:117,863,485...117,929,621 		JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP HPO OMIM:616268 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		JBrowse link
G KDM1A lysine demethylase 1A IAGP HPO OMIM:616728 ORPHA:477993 NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689 		JBrowse link
G KDM5C lysine demethylase 5C IAGP HPO OMIM:300534 NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,176,283...53,225,422 		JBrowse link
G KIDINS220 kinase D interacting substrate 220 IAGP HPO OMIM:617296 NCBI chr 2:8,721,081...8,837,613
Ensembl chr 2:8,721,081...8,837,630 		JBrowse link
G KIF5A kinesin family member 5A IAGP HPO OMIM:604187 NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		JBrowse link
G LBR lamin B receptor IAGP HPO OMIM:169400 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G MTPAP mitochondrial poly(A) polymerase IAGP HPO OMIM:613672 ORPHA:254343 NCBI chr10:30,309,801...30,349,278
Ensembl chr10:30,309,801...30,374,448 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase IAGP HPO ORPHA:2169 NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO OMIM:301072 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP HPO ORPHA:319514 NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863 		JBrowse link
G RARS1 arginyl-tRNA synthetase 1 IAGP HPO ORPHA:438114 NCBI chr 5:168,486,471...168,519,301
Ensembl chr 5:168,486,451...168,519,301 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO OMIM:619487 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		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 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase IAGP HPO ORPHA:2524 NCBI chr 4:25,120,014...25,160,582
Ensembl chr 4:25,120,014...25,160,550 		JBrowse link
G SLC33A1 solute carrier family 33 member 1 IAGP HPO ORPHA:171863 NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456 		JBrowse link
G SLC35C1 solute carrier family 35 member C1 IAGP HPO ORPHA:99843 NCBI chr11:45,804,072...45,813,016
Ensembl chr11:45,804,072...45,813,016 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 IAGP HPO OMIM:617013 NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129 		JBrowse link
G SMG9 SMG9 nonsense mediated mRNA decay factor IAGP HPO OMIM:619995 NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962 		JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP HPO OMIM:607259 ORPHA:99013 NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766 		JBrowse link
G TSEN15 tRNA splicing endonuclease subunit 15 IAGP HPO ORPHA:2524 NCBI chr 1:184,051,730...184,097,485
Ensembl chr 1:184,051,651...184,123,978 		JBrowse link
G TSEN2 tRNA splicing endonuclease subunit 2 IAGP HPO ORPHA:2524 NCBI chr 3:12,480,231...12,539,624
Ensembl chr 3:12,484,421...12,541,549 		JBrowse link
G TSEN34 tRNA splicing endonuclease subunit 34 IAGP HPO ORPHA:2524 NCBI chr19:54,189,441...54,194,532
Ensembl chr19:54,189,938...54,194,536 		JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP HPO ORPHA:2524 NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735 		JBrowse link
G VPS37A VPS37A subunit of ESCRT-I IAGP HPO OMIM:614898 NCBI chr 8:17,246,958...17,333,455
Ensembl chr 8:17,246,931...17,302,427 		JBrowse link
Lower limb muscle weakness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO OMIM:613287 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO OMIM:300100 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:225154 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 IAGP HPO OMIM:614487 ORPHA:313772 NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:2495 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		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 ANO5 anoctamin 5 IAGP ClinVar Annotator: match by term: Lower limb muscle weakness ClinVar PMID:9673985 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 More... NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		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 AP5Z1 adaptor related protein complex 5 subunit zeta 1 IAGP HPO OMIM:613647 ORPHA:306511 NCBI chr 7:4,775,623...4,794,397
Ensembl chr 7:4,775,615...4,794,397 		JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO ORPHA:2590 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G ATL1 atlastin GTPase 1 IAGP HPO OMIM:182600 NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017 		JBrowse link
G ATP5MC3 ATP synthase membrane subunit c locus 3 IAGP HPO OMIM:619681 NCBI chr 2:175,176,258...175,181,710
Ensembl chr 2:175,176,258...175,181,710 		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 B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 IAGP HPO OMIM:609195 NCBI chr12:57,623,409...57,633,201
Ensembl chr12:57,623,409...57,633,239 		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 BAP1 BRCA1 associated protein 1 IAGP HPO ORPHA:2495 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP HPO OMIM:615290 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO OMIM:270685 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G CACNA1S calcium voltage-gated channel subunit alpha1 S IAGP HPO ORPHA:79102 NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451 		JBrowse link
G CAPN1 calpain 1 IAGP HPO OMIM:616907 ORPHA:488594 NCBI chr11:65,181,373...65,212,006
Ensembl chr11:65,180,566...65,212,006 		JBrowse link
G CAPN3 calpain 3 IAGP HPO OMIM:253600 ORPHA:267 NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949 		JBrowse link
G CAV1 caveolin 1 IAGP HPO OMIM:606721 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		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 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 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CLDN10 claudin 10 IAGP ClinVar Annotator: match by term: Lower limb muscle weakness ClinVar PMID:25741868 NCBI chr13:95,433,755...95,579,759
Ensembl chr13:95,433,604...95,579,759 		JBrowse link
G COL25A1 collagen type XXV alpha 1 chain IAGP HPO ORPHA:1143 NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO OMIM:616052 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G CRYAB crystallin alpha B IAGP HPO OMIM:608810 NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO OMIM:213700 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP HPO OMIM:270800 ORPHA:100986 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737 		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 OMIM:607641 ORPHA:803 NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087 		JBrowse link
G DDHD1 DDHD domain containing 1 IAGP HPO OMIM:609340 ORPHA:101008 NCBI chr14:53,036,755...53,153,323
Ensembl chr14:53,036,745...53,153,323 		JBrowse link
G DDHD2 DDHD domain containing 2 IAGP HPO OMIM:615033 NCBI chr 8:38,231,585...38,273,647
Ensembl chr 8:38,225,218...38,275,558 		JBrowse link
G DGUOK deoxyguanosine kinase IAGP HPO ORPHA:329314 NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961 		JBrowse link
G DSTYK dual serine/threonine and tyrosine protein kinase IAGP HPO OMIM:270750 NCBI chr 1:205,142,505...205,211,702
Ensembl chr 1:205,142,505...205,211,702 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP ClinVar Annotator: match by term: Lower limb muscle weakness ClinVar PMID:25741868 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443 		JBrowse link
G DYSF dysferlin IAGP HPO OMIM:254130 ORPHA:268 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G EIF2B2 eukaryotic translation initiation factor 2B subunit beta IAGP HPO OMIM:620312 NCBI chr14:75,002,921...75,012,366
Ensembl chr14:75,002,921...75,012,366 		JBrowse link
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma IAGP HPO OMIM:620313 NCBI chr 1:44,850,522...44,986,595
Ensembl chr 1:44,850,522...44,986,722 		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 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP HPO ORPHA:1143 NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP HPO OMIM:611225 OMIM:620512 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		JBrowse link
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:617046 NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192 		JBrowse link
G FBXO38 F-box protein 38 IAGP HPO OMIM:615575 NCBI chr 5:148,383,958...148,442,836
Ensembl chr 5:148,383,935...148,442,836 		JBrowse link
G FDX2 ferredoxin 2 IAGP HPO OMIM:251900 NCBI chr19:10,310,045...10,316,015
Ensembl chr19:10,309,916...10,316,015 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO OMIM:300695 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		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 FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP HPO ORPHA:370348 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267 		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 GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 IAGP HPO ORPHA:79102 NCBI chr  X:152,166,234...152,451,315
Ensembl chr  X:152,166,234...152,451,315 		JBrowse link
G GALC galactosylceramidase IAGP HPO ORPHA:206448 NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 IAGP HPO OMIM:619042 NCBI chr 7:30,594,735...30,634,033
Ensembl chr 7:30,580,533...30,634,033 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP ClinVar Annotator: match by term: Lower limb muscle weakness ClinVar PMID:1864608 PMID:10079102 PMID:11903352 PMID:12595585 PMID:12791040 More... NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP HPO OMIM:614409 NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO OMIM:608340 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		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 GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:363623 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G GNB1 G protein subunit beta 1 IAGP HPO OMIM:616973 NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO ORPHA:602 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha IAGP HPO 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 HSPB1 heat shock protein family B (small) member 1 IAGP HPO ORPHA:99940 NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,304,295 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 IAGP HPO OMIM:605280 ORPHA:100994 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737 		JBrowse link
G HYCC1 hyccin PI4KA lipid kinase complex subunit 1 IAGP HPO OMIM:610532 NCBI chr 7:22,895,843...23,014,130
Ensembl chr 7:22,889,371...23,014,130 		JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 IAGP ClinVar Annotator: match by term: Muscle weakness in lower limbs
ClinVar Annotator: match by term: Lower limb muscle weakness		 ClinVar
HPO		 PMID:14506069 PMID:14681881 PMID:25439726 PMID:25568292 PMID:25741868 More... OMIM:616155 NCBI chr11:68,903,891...68,940,601
Ensembl chr11:68,903,863...68,940,602 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP HPO ORPHA:199343 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,160 		JBrowse link
G KCNJ18 potassium inwardly rectifying channel subfamily J member 18 IAGP HPO ORPHA:79102 NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612 		JBrowse link
G KIF1A kinesin family member 1A IAGP HPO OMIM:610357 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293 		JBrowse link
G KIF5A kinesin family member 5A IAGP HPO OMIM:604187 ORPHA:100991 NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		JBrowse link
G KPNA3 karyopherin subunit alpha 3 IAGP HPO OMIM:620106 ORPHA:171612 NCBI chr13:49,699,320...49,792,682
Ensembl chr13:49,699,320...49,792,682 		JBrowse link
G L1CAM L1 cell adhesion molecule IAGP HPO ORPHA:306617 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173 		JBrowse link
G LIPE lipase E, hormone sensitive type IAGP HPO OMIM:615980 NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,514...42,427,388 		JBrowse link
G LOC106627981 GBA recombination region IAGP ClinVar Annotator: match by term: Lower limb muscle weakness ClinVar PMID:1864608 PMID:10079102 PMID:11903352 PMID:12595585 PMID:12791040 More... NCBI chr 1:155,233,639...155,240,092 JBrowse link
G LPIN1 lipin 1 IAGP HPO ORPHA:99845 NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409 		JBrowse link
G LRP12 LDL receptor related protein 12 IAGP HPO OMIM:620452 NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258 		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 MPZ myelin protein zero IAGP HPO ORPHA:3115 NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968 		JBrowse link
G MRPS2 mitochondrial ribosomal protein S2 IAGP HPO OMIM:617950 NCBI chr 9:135,499,965...135,504,673
Ensembl chr 9:135,499,984...135,504,673 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:225154 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO ORPHA:99845 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:99845 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP DNA:missense mutation:cds:m.3696C>T RGD PMID:18807169 RGD:5490251 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP HPO ORPHA:395 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue IAGP HPO OMIM:615035 ORPHA:254930 ORPHA:320375 NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079 		JBrowse link
G MYH14 myosin heavy chain 14 IAGP HPO ORPHA:397744 NCBI chr19:50,203,622...50,310,540
Ensembl chr19:50,188,186...50,310,542 		JBrowse link
G MYPN myopalladin IAGP HPO ORPHA:171881 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G NEFH neurofilament heavy chain IAGP HPO OMIM:616924 ORPHA:803 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390 		JBrowse link
G NEFL neurofilament light chain IAGP HPO OMIM:607684 OMIM:617882 ORPHA:99939 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		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 NF1 neurofibromin 1 IAGP HPO OMIM:162210 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:2495 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598 		JBrowse link
G NIPA1 NIPA magnesium transporter 1 IAGP HPO OMIM:600363 NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789 		JBrowse link
G NUP54 nucleoporin 54 IAGP HPO ORPHA:225154 NCBI chr 4:76,114,664...76,148,397
Ensembl chr 4:76,107,562...76,148,485 		JBrowse link
G NUP62 nucleoporin 62 IAGP HPO ORPHA:225154 NCBI chr19:49,906,825...49,929,504
Ensembl chr19:49,906,825...49,929,764 		JBrowse link
G OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF IAGP HPO ORPHA:99845 NCBI chr 1:228,208,044...228,378,876
Ensembl chr 1:228,208,044...228,378,876 		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 PDGFB platelet derived growth factor subunit B IAGP HPO ORPHA:2495 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PDK3 pyruvate dehydrogenase kinase 3 IAGP HPO ORPHA:352675 NCBI chr  X:24,465,286...24,550,466
Ensembl chr  X:24,465,244...24,550,466 		JBrowse link
G PDXK pyridoxal kinase IAGP HPO OMIM:618511 NCBI chr21:43,719,129...43,762,299
Ensembl chr21:43,719,094...43,762,307 		JBrowse link
G PFN1 profilin 1 IAGP ClinVar Annotator: match by term: Lower limb muscle weakness ClinVar
HPO		 ORPHA:803 NCBI chr17:4,945,652...4,948,530
Ensembl chr17:4,945,652...4,949,061 		JBrowse link
G PHKA1 phosphorylase kinase regulatory subunit alpha 1 IAGP HPO OMIM:300559 NCBI chr  X:72,578,814...72,714,306
Ensembl chr  X:72,578,814...72,714,319 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO OMIM:619621 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO OMIM:617146 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:2495 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PLP1 proteolipid protein 1 IAGP HPO OMIM:312920 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO ORPHA:3115 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		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 PRNP prion protein (Kanno blood group) IAGP HPO OMIM:137440 ORPHA:356 NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590 		JBrowse link
G PRORP protein only RNase P catalytic subunit IAGP HPO OMIM:619737 NCBI chr14:35,121,839...35,277,622
Ensembl chr14:35,121,846...35,277,622 		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 RASA1 RAS p21 protein activator 1 IAGP HPO ORPHA:90307 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931 		JBrowse link
G REEP1 receptor accessory protein 1 IAGP HPO OMIM:610250 NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083 		JBrowse link
G RNASEH1 ribonuclease H1 IAGP HPO OMIM:616479 NCBI chr 2:3,531,813...3,558,333
Ensembl chr 2:3,541,430...3,558,333 		JBrowse link
G RNF170 ring finger protein 170 IAGP HPO OMIM:619686 NCBI chr 8:42,849,637...42,897,299
Ensembl chr 8:42,849,637...42,897,290 		JBrowse link
G RTN2 reticulon 2 IAGP HPO OMIM:604805 ORPHA:100993 NCBI chr19:45,485,294...45,497,047
Ensembl chr19:45,485,294...45,497,055 		JBrowse link
G SBF1 SET binding factor 1 IAGP HPO OMIM:615284 NCBI chr22:50,445,000...50,475,035
Ensembl chr22:50,443,219...50,483,923 		JBrowse link
G SBF2 SET binding factor 2 IAGP HPO ORPHA:99956 NCBI chr11:9,778,668...10,303,837
Ensembl chr11:9,776,776...10,304,877 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP HPO ORPHA:521411 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461 		JBrowse link
G SCYL2 SCY1 like pseudokinase 2 IAGP HPO ORPHA:1143 NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 IAGP HPO OMIM:614373 NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 IAGP HPO OMIM:620068 NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060 		JBrowse link
G SLC33A1 solute carrier family 33 member 1 IAGP HPO ORPHA:171863 NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP HPO ORPHA:2495 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP HPO ORPHA:2495 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G SMN1 survival of motor neuron 1, telomeric IAGP HPO OMIM:253400 NCBI chr 5:70,924,941...70,966,375
Ensembl chr 5:70,925,030...70,953,942
Ensembl chr 5:70,925,030...70,953,942 		JBrowse link
G SMN2 survival of motor neuron 2, centromeric IAGP HPO OMIM:253400 NCBI chr 5:70,049,523...70,090,528
Ensembl chr 5:70,049,638...70,078,522
Ensembl chr 5:70,049,638...70,078,522 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO ORPHA:2495 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		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 SPART spartin IAGP HPO OMIM:275900 NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180 		JBrowse link
G SPAST spastin IAGP HPO OMIM:182601 ORPHA:100985 NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO OMIM:604360 ORPHA:2822 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SPG21 SPG21 abhydrolase domain containing, maspardin IAGP HPO OMIM:248900 ORPHA:101001 NCBI chr15:64,963,022...64,989,914
Ensembl chr15:64,963,022...64,990,310 		JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP HPO OMIM:607259 ORPHA:99013 NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP HPO OMIM:620538 NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662 		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 SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:2495 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO ORPHA:88644 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		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 TERT telomerase reverse transcriptase IAGP HPO ORPHA:2495 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TFG trafficking from ER to golgi regulator IAGP HPO ORPHA:90117 NCBI chr 3:100,709,290...100,748,967
Ensembl chr 3:100,709,295...100,748,964 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP HPO OMIM:620389 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:171881 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 ORPHA:171881 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP HPO ORPHA:2495 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		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: Lower limb muscle weakness ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:25741868 More... 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: Lower limb muscle weakness ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:25741868 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G UBAP1 ubiquitin associated protein 1 IAGP HPO ORPHA:100993 NCBI chr 9:34,179,005...34,252,523
Ensembl chr 9:34,179,005...34,252,523 		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 VAPB VAMP associated protein B and C IAGP HPO ORPHA:209335 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 OMIM:613954 ORPHA:803 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D IAGP HPO OMIM:607317 NCBI chr 1:12,230,030...12,512,047
Ensembl chr 1:12,230,030...12,512,047 		JBrowse link
G WASHC5 WASH complex subunit 5 IAGP HPO OMIM:603563 ORPHA:100989 NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819 		JBrowse link
G ZFYVE26 zinc finger FYVE-type containing 26 IAGP HPO OMIM:270700 NCBI chr14:67,728,892...67,816,590
Ensembl chr14:67,727,374...67,816,590 		JBrowse link
G ZFYVE27 zinc finger FYVE-type containing 27 IAGP HPO OMIM:610244 NCBI chr10:97,737,128...97,760,895
Ensembl chr10:97,737,121...97,760,907 		JBrowse link
Muscle hypertrophy of the lower extremities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN1 chloride voltage-gated channel 1 IAGP HPO OMIM:255700 NCBI chr 7:143,316,111...143,352,083
Ensembl chr 7:143,316,111...143,352,083 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:280365 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP HPO ORPHA:90307 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931 		JBrowse link
G SRY sex determining region Y IAGP HPO ORPHA:1772 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
Pectoral muscle hypoplasia/aplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX1 ALX homeobox 1 IAGP HPO ORPHA:306542 NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784 		JBrowse link
G ALX3 ALX homeobox 3 IAGP HPO OMIM:136760 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672 		JBrowse link
Pectoralis hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYMK myomaker, myoblast fusion factor IAGP HPO OMIM:254940 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO OMIM:607323 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
Pelvic girdle amyotrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 GYG1 glycogenin 1 IAGP HPO OMIM:616199 NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775 		JBrowse link
G SMN1 survival of motor neuron 1, telomeric IAGP HPO OMIM:253400 NCBI chr 5:70,924,941...70,966,375
Ensembl chr 5:70,925,030...70,953,942
Ensembl chr 5:70,925,030...70,953,942 		JBrowse link
G SMN2 survival of motor neuron 2, centromeric IAGP HPO OMIM:253400 NCBI chr 5:70,049,523...70,090,528
Ensembl chr 5:70,049,638...70,078,522
Ensembl chr 5:70,049,638...70,078,522 		JBrowse link
G VCP valosin containing protein IAGP HPO OMIM:167320 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
Pelvic girdle muscle weakness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:2020 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ANO5 anoctamin 5 IAGP HPO OMIM:611307 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP ClinVar Annotator: match by term: Pelvic girdle weakness ClinVar PMID:24336790 PMID:25741868 PMID:28492532 PMID:32581362 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G CRYAB crystallin alpha B IAGP HPO OMIM:608810 NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722 		JBrowse link
G DGUOK deoxyguanosine kinase IAGP HPO ORPHA:329314 NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP HPO OMIM:615156 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121 		JBrowse link
G DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 IAGP HPO OMIM:603511 NCBI chr 7:157,337,004...157,417,439
Ensembl chr 7:157,335,381...157,417,439 		JBrowse link
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory IAGP HPO ORPHA:263494 NCBI chr 1:155,139,891...155,140,531
Ensembl chr 1:155,139,891...155,140,595 		JBrowse link
G DYSF dysferlin IAGP HPO ORPHA:45448 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G FKRP fukutin related protein IAGP HPO OMIM:607155 ORPHA:34515 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G GYG1 glycogenin 1 IAGP HPO OMIM:616199 NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775 		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 HNRNPDL heterogeneous nuclear ribonucleoprotein D like IAGP HPO OMIM:609115 NCBI chr 4:82,422,564...82,430,462
Ensembl chr 4:82,422,565...82,430,462 		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 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 MT-TE mitochondrially encoded tRNA-Glu (GAA/G) IAGP HPO ORPHA:2596 NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742 		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 MYL2 myosin light chain 2 IAGP HPO ORPHA:2020 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,910,819...110,921,443 		JBrowse link
G MYOT myotilin IAGP HPO ORPHA:266 NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851 		JBrowse link
G PHKA1 phosphorylase kinase regulatory subunit alpha 1 IAGP HPO OMIM:300559 NCBI chr  X:72,578,814...72,714,306
Ensembl chr  X:72,578,814...72,714,319 		JBrowse link
G PHKB phosphorylase kinase regulatory subunit beta IAGP HPO ORPHA:79240 NCBI chr16:47,461,299...47,701,523
Ensembl chr16:47,461,123...47,701,523 		JBrowse link
G PLEC plectin IAGP HPO ORPHA:254361 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP HPO ORPHA:98908 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Pelvic girdle muscle weakness ClinVar
HPO		 PMID:17483490 PMID:18253926 PMID:19191329 PMID:19645060 PMID:21062345 More... ORPHA:597 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SELENON selenoprotein N IAGP HPO ORPHA:2020 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G SGCB sarcoglycan beta IAGP HPO ORPHA:119 NCBI chr 4:52,020,706...52,038,299
Ensembl chr 4:52,020,706...52,038,299 		JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP HPO OMIM:158901 NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017 		JBrowse link
G SMN1 survival of motor neuron 1, telomeric IAGP HPO OMIM:253400 NCBI chr 5:70,924,941...70,966,375
Ensembl chr 5:70,925,030...70,953,942
Ensembl chr 5:70,925,030...70,953,942 		JBrowse link
G SMN2 survival of motor neuron 2, centromeric IAGP HPO OMIM:253400 NCBI chr 5:70,049,523...70,090,528
Ensembl chr 5:70,049,638...70,078,522
Ensembl chr 5:70,049,638...70,078,522 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP HPO OMIM:620389 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
G TNPO3 transportin 3 IAGP HPO OMIM:608423 NCBI chr 7:128,954,185...129,056,193
Ensembl chr 7:128,954,180...129,055,173 		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 ORPHA:2020 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TRIM32 tripartite motif containing 32 IAGP HPO OMIM:254110 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300 		JBrowse link
G TTN titin IAGP HPO OMIM:603689 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G VCP valosin containing protein IAGP HPO OMIM:167320 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
Peroneal muscle atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 IAGP HPO ORPHA:399096 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G DES desmin IAGP HPO OMIM:181400 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G GJB1 gap junction protein beta 1 IAGP ClinVar Annotator: match by term: Peroneal atrophy ClinVar PMID:25741868 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516 		JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 IAGP HPO ORPHA:324442 NCBI chr 5:131,159,027...131,165,256
Ensembl chr 5:131,155,383...131,224,468 		JBrowse link
G LMNA lamin A/C IAGP HPO OMIM:181350 ORPHA:98856 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO ORPHA:90658 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G REEP1 receptor accessory protein 1 IAGP HPO OMIM:614751 NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083 		JBrowse link
G SACS sacsin molecular chaperone IAGP HPO OMIM:270550 NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:181405 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TTN titin IAGP HPO ORPHA:609 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO ORPHA:2388 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
G WASHC5 WASH complex subunit 5 IAGP HPO ORPHA:100989 NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819 		JBrowse link
Peroneal muscle weakness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKTN fukutin IAGP HPO OMIM:611588 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO ORPHA:101097 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G GYG1 glycogenin 1 IAGP HPO OMIM:616199 NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775 		JBrowse link
G LMNA lamin A/C IAGP HPO OMIM:181350 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO ORPHA:90658 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G REEP1 receptor accessory protein 1 IAGP HPO OMIM:614751 NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083 		JBrowse link
G SARDH sarcosine dehydrogenase IAGP HPO ORPHA:3129 NCBI chr 9:133,659,418...133,739,955
Ensembl chr 9:133,663,560...133,739,955 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:181405 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
Proximal lower limb amyotrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP HPO OMIM:158600 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443 		JBrowse link
G EMD emerin IAGP HPO ORPHA:98863 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO ORPHA:98863 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G HNRNPDL heterogeneous nuclear ribonucleoprotein D like IAGP HPO OMIM:609115 NCBI chr 4:82,422,564...82,430,462
Ensembl chr 4:82,422,565...82,430,462 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:98853 ORPHA:98855 ORPHA:98856 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G NEFL neurofilament light chain IAGP HPO ORPHA:101085 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G REEP1 receptor accessory protein 1 IAGP HPO ORPHA:101011 NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083 		JBrowse link
G SGCD sarcoglycan delta IAGP HPO ORPHA:219 NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788 		JBrowse link
G SMN1 survival of motor neuron 1, telomeric IAGP HPO OMIM:253400 NCBI chr 5:70,924,941...70,966,375
Ensembl chr 5:70,925,030...70,953,942
Ensembl chr 5:70,925,030...70,953,942 		JBrowse link
G SMN2 survival of motor neuron 2, centromeric IAGP HPO OMIM:253400 NCBI chr 5:70,049,523...70,090,528
Ensembl chr 5:70,049,638...70,078,522
Ensembl chr 5:70,049,638...70,078,522 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO OMIM:616668 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO ORPHA:98853 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP HPO ORPHA:98853 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433 		JBrowse link
G TMEM43 transmembrane protein 43 IAGP HPO ORPHA:98853 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:600175 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Proximal lower limb amyotrophy ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:25741868 More... 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: Proximal lower limb amyotrophy ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:25741868 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G VMA21 vacuolar ATPase assembly factor VMA21 IAGP HPO OMIM:310440 NCBI chr  X:151,396,595...151,409,364
Ensembl chr  X:151,396,515...151,409,364 		JBrowse link
Proximal muscle weakness in lower limbs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADSS1 adenylosuccinate synthase 1 IAGP HPO ORPHA:482601 NCBI chr14:104,724,229...104,747,325
Ensembl chr14:104,724,174...104,747,325 		JBrowse link
G ANO5 anoctamin 5 IAGP HPO ORPHA:206549 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G ANXA11 annexin A11 IAGP HPO OMIM:619733 NCBI chr10:80,150,889...80,205,808
Ensembl chr10:80,150,889...80,205,572 		JBrowse link
G ATP7B ATPase copper transporting beta IAGP HPO ORPHA:905 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP HPO OMIM:615290 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G BIN1 bridging integrator 1 IAGP HPO ORPHA:169189 NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288 		JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 IAGP HPO OMIM:616209 ORPHA:276435 ORPHA:457050 NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972 		JBrowse link
G CPOX coproporphyrinogen oxidase IAGP HPO ORPHA:79273 NCBI chr 3:98,570,488...98,593,611
Ensembl chr 3:98,579,446...98,593,648 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO ORPHA:352479 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Proximal muscle weakness in lower limbs ClinVar PMID:7581396 PMID:16770791 PMID:17041906 PMID:21969337 PMID:25007885 More... NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DMXL2 Dmx like 2 IAGP HPO ORPHA:453533 NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833 		JBrowse link
G DNM2 dynamin 2 IAGP HPO ORPHA:169189 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP HPO OMIM:158600 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443 		JBrowse link
G DYSF dysferlin IAGP HPO ORPHA:268 ORPHA:45448 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G EMD emerin IAGP HPO ORPHA:98863 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO ORPHA:98863 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FLNC filamin C IAGP HPO ORPHA:171445 ORPHA:63273 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO OMIM:607706 ORPHA:101097 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G HEXB hexosaminidase subunit beta IAGP HPO ORPHA:309169 NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647 		JBrowse link
G HMBS hydroxymethylbilane synthase IAGP HPO ORPHA:79276 NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 IAGP HPO OMIM:615424 NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088 		JBrowse link
G JAG2 jagged canonical Notch ligand 2 IAGP HPO OMIM:619566 NCBI chr14:105,140,995...105,168,776
Ensembl chr14:105,140,982...105,168,824 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP HPO OMIM:618138 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G LIPE lipase E, hormone sensitive type IAGP HPO ORPHA:435660 NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,514...42,427,388 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:98853 ORPHA:98855 ORPHA:98856 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G MB myoglobin IAGP HPO OMIM:620286 NCBI chr22:35,606,764...35,623,354
Ensembl chr22:35,606,764...35,637,951 		JBrowse link
G MLIP muscular LMNA interacting protein IAGP HPO OMIM:620138 NCBI chr 6:54,018,970...54,266,280
Ensembl chr 6:53,929,982...54,266,280 		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 MTMR14 myotubularin related protein 14 IAGP HPO ORPHA:169189 NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393 		JBrowse link
G MYF6 myogenic factor 6 IAGP HPO ORPHA:169189 NCBI chr12:80,707,634...80,709,474
Ensembl chr12:80,707,634...80,709,474 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO ORPHA:59135 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G NEFL neurofilament light chain IAGP HPO ORPHA:101085 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		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 POGLUT1 protein O-glucosyltransferase 1 IAGP HPO OMIM:617232 NCBI chr 3:119,468,963...119,494,708
Ensembl chr 3:119,468,963...119,494,708 		JBrowse link
G POPDC3 popeye domain containing 3 IAGP HPO OMIM:618848 NCBI chr 6:105,157,900...105,180,014
Ensembl chr 6:105,157,900...105,180,014 		JBrowse link
G REEP1 receptor accessory protein 1 IAGP HPO ORPHA:101011 NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:169189 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SBF2 SET binding factor 2 IAGP HPO ORPHA:99956 NCBI chr11:9,778,668...10,303,837
Ensembl chr11:9,776,776...10,304,877 		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 SECISBP2 SECIS binding protein 2 IAGP HPO ORPHA:171706 NCBI chr 9:89,318,500...89,367,117
Ensembl chr 9:89,318,500...89,359,663 		JBrowse link
G SMN1 survival of motor neuron 1, telomeric IAGP HPO OMIM:253300 NCBI chr 5:70,924,941...70,966,375
Ensembl chr 5:70,925,030...70,953,942
Ensembl chr 5:70,925,030...70,953,942 		JBrowse link
G SMPX small muscle protein X-linked IAGP HPO OMIM:301075 NCBI chr  X:21,705,978...21,758,116
Ensembl chr  X:21,705,978...21,758,116 		JBrowse link
G SORD sorbitol dehydrogenase IAGP HPO OMIM:618912 NCBI chr15:45,023,195...45,077,185
Ensembl chr15:45,023,147...45,077,185 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO OMIM:616668 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO ORPHA:98853 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP HPO ORPHA:98853 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433 		JBrowse link
G TCAP titin-cap IAGP HPO OMIM:601954 NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554 		JBrowse link
G TMEM43 transmembrane protein 43 IAGP HPO ORPHA:98853 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680 		JBrowse link
G TRIM32 tripartite motif containing 32 IAGP HPO ORPHA:1878 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300 		JBrowse link
G TTN titin IAGP HPO ORPHA:609 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G VCP valosin containing protein IAGP HPO OMIM:613954 OMIM:616687 ORPHA:435387 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G VMA21 vacuolar ATPase assembly factor VMA21 IAGP HPO OMIM:310440 NCBI chr  X:151,396,595...151,409,364
Ensembl chr  X:151,396,515...151,409,364 		JBrowse link
G VWA1 von Willebrand factor A domain containing 1 IAGP HPO OMIM:619216 NCBI chr 1:1,435,690...1,442,882
Ensembl chr 1:1,434,861...1,442,882 		JBrowse link
Proximal muscle weakness in upper limbs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 IAGP HPO ORPHA:206549 ORPHA:399096 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G ANXA11 annexin A11 IAGP HPO OMIM:619733 NCBI chr10:80,150,889...80,205,808
Ensembl chr10:80,150,889...80,205,572 		JBrowse link
G BIN1 bridging integrator 1 IAGP HPO ORPHA:169189 NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288 		JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 IAGP HPO ORPHA:276435 ORPHA:457050 NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972 		JBrowse link
G CPOX coproporphyrinogen oxidase IAGP HPO ORPHA:79273 NCBI chr 3:98,570,488...98,593,611
Ensembl chr 3:98,579,446...98,593,648 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO ORPHA:352479 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G DES desmin IAGP ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 More... NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G DNM2 dynamin 2 IAGP HPO OMIM:160150 ORPHA:169189 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488 		JBrowse link
G DYSF dysferlin IAGP HPO ORPHA:268 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G EMD emerin IAGP HPO ORPHA:98863 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO ORPHA:98863 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO OMIM:607706 ORPHA:101097 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G GIPC1 GIPC PDZ domain containing family member 1 IAGP HPO ORPHA:98897 NCBI chr19:14,477,762...14,496,127
Ensembl chr19:14,477,760...14,496,149 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:363623 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G HMBS hydroxymethylbilane synthase IAGP HPO ORPHA:79276 NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834 		JBrowse link
G JAG2 jagged canonical Notch ligand 2 IAGP HPO OMIM:619566 NCBI chr14:105,140,995...105,168,776
Ensembl chr14:105,140,982...105,168,824 		JBrowse link
G KY kyphoscoliosis peptidase IAGP HPO ORPHA:496689 NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP HPO OMIM:618138 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		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 LIPE lipase E, hormone sensitive type IAGP HPO ORPHA:435660 NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,514...42,427,388 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:98853 ORPHA:98855 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LPIN1 lipin 1 IAGP HPO ORPHA:99845 NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409 		JBrowse link
G LRP12 LDL receptor related protein 12 IAGP HPO ORPHA:98897 NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258 		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 MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO ORPHA:99845 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:99845 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MTMR14 myotubularin related protein 14 IAGP HPO OMIM:160150 ORPHA:169189 NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393 		JBrowse link
G MYF6 myogenic factor 6 IAGP HPO ORPHA:169189 NCBI chr12:80,707,634...80,709,474
Ensembl chr12:80,707,634...80,709,474 		JBrowse link
G NEFL neurofilament light chain IAGP HPO ORPHA:101085 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G NOTCH2NLC notch 2 N-terminal like C IAGP HPO ORPHA:98897 NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833 		JBrowse link
G OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF IAGP HPO ORPHA:99845 NCBI chr 1:228,208,044...228,378,876
Ensembl chr 1:228,208,044...228,378,876 		JBrowse link
G PPOX protoporphyrinogen oxidase IAGP HPO ORPHA:79473 NCBI chr 1:161,165,728...161,178,013
Ensembl chr 1:161,166,056...161,178,013 		JBrowse link
G RILPL1 Rab interacting lysosomal protein like 1 IAGP HPO ORPHA:98897 NCBI chr12:123,470,054...123,533,719
Ensembl chr12:123,470,054...123,533,719 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:169189 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SBF2 SET binding factor 2 IAGP HPO ORPHA:99956 NCBI chr11:9,778,668...10,303,837
Ensembl chr11:9,776,776...10,304,877 		JBrowse link
G SFTPC surfactant protein C IAGP ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs ClinVar PMID:25741868 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 IAGP HPO OMIM:620068 NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060 		JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs ClinVar NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017 		JBrowse link
G SMPX small muscle protein X-linked IAGP HPO OMIM:301075 NCBI chr  X:21,705,978...21,758,116
Ensembl chr  X:21,705,978...21,758,116 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO OMIM:616668 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO ORPHA:98853 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP HPO ORPHA:98853 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433 		JBrowse link
G TCAP titin-cap IAGP HPO OMIM:601954 NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554 		JBrowse link
G TMEM43 transmembrane protein 43 IAGP HPO ORPHA:98853 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:606071 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G VCP valosin containing protein IAGP HPO OMIM:613954 OMIM:616687 ORPHA:435387 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G VWA1 von Willebrand factor A domain containing 1 IAGP HPO OMIM:619216 NCBI chr 1:1,435,690...1,442,882
Ensembl chr 1:1,434,861...1,442,882 		JBrowse link
Proximal upper limb amyotrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM2 dynamin 2 IAGP HPO OMIM:160150 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488 		JBrowse link
G EMD emerin IAGP HPO ORPHA:98863 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO ORPHA:98863 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G HNRNPDL heterogeneous nuclear ribonucleoprotein D like IAGP HPO OMIM:609115 NCBI chr 4:82,422,564...82,430,462
Ensembl chr 4:82,422,565...82,430,462 		JBrowse link
G LMNA lamin A/C IAGP HPO OMIM:613205 ORPHA:98853 ORPHA:98855 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		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 MTMR14 myotubularin related protein 14 IAGP HPO OMIM:160150 NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393 		JBrowse link
G SGCD sarcoglycan delta IAGP HPO ORPHA:219 NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO ORPHA:98853 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP HPO ORPHA:98853 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433 		JBrowse link
G TCAP titin-cap IAGP HPO OMIM:601954 NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554 		JBrowse link
G TMEM43 transmembrane protein 43 IAGP HPO ORPHA:98853 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:606071 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
Proximal upper limb muscle hypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C IAGP HPO ORPHA:280365 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G PLEC plectin IAGP HPO ORPHA:254361 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
Quadriceps aplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO OMIM:161200 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
Quadriceps muscle atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADSS1 adenylosuccinate synthase 1 IAGP HPO ORPHA:482601 NCBI chr14:104,724,229...104,747,325
Ensembl chr14:104,724,174...104,747,325 		JBrowse link
G ANO5 anoctamin 5 IAGP DNA:duplications, nonsense mutation, missense mutation:exon:multiple HPO
RGD		 PMID:22742934 OMIM:611307 OMIM:613319 ORPHA:206549, RGD:11570561 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G SMN1 survival of motor neuron 1, telomeric IAGP HPO OMIM:271150 NCBI chr 5:70,924,941...70,966,375
Ensembl chr 5:70,925,030...70,953,942
Ensembl chr 5:70,925,030...70,953,942 		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
Quadriceps muscle weakness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADSS1 adenylosuccinate synthase 1 IAGP HPO ORPHA:482601 NCBI chr14:104,724,229...104,747,325
Ensembl chr14:104,724,174...104,747,325 		JBrowse link
G ANO5 anoctamin 5 IAGP DNA:duplications, nonsense mutation, missense mutation:exon:multiple HPO
RGD		 PMID:22742934 OMIM:613319, RGD:11570561 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:610 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO ORPHA:610 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:610 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:610 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G CRYAB crystallin alpha B IAGP HPO OMIM:608810 NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722 		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 DYSF dysferlin IAGP HPO ORPHA:45448 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO ORPHA:101097 ORPHA:99948 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO ORPHA:602 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO OMIM:255800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G MFN2 mitofusin 2 IAGP HPO ORPHA:99947 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G PHKA1 phosphorylase kinase regulatory subunit alpha 1 IAGP HPO OMIM:300559 NCBI chr  X:72,578,814...72,714,306
Ensembl chr  X:72,578,814...72,714,319 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO ORPHA:254892 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP HPO ORPHA:254892 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO ORPHA:254892 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP HPO ORPHA:254892 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP HPO OMIM:620389 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
G TRIM32 tripartite motif containing 32 IAGP HPO OMIM:254110 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300 		JBrowse link
G TTN titin IAGP HPO OMIM:603689 ORPHA:609 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TWNK twinkle mtDNA helicase IAGP HPO ORPHA:254892 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
G VCP valosin containing protein IAGP HPO ORPHA:435387 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
Rectus femoris muscle atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:424107 ORPHA:597 ORPHA:98905 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
Scapular muscle atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 FKTN fukutin IAGP HPO OMIM:611588 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:181405 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
Scapular winging term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO OMIM:616852 ORPHA:171439 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit IAGP HPO ORPHA:353327 NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951 		JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP HPO OMIM:616228 ORPHA:353327 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G ANO5 anoctamin 5 IAGP HPO ORPHA:206549 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G ANXA11 annexin A11 IAGP HPO OMIM:619733 NCBI chr10:80,150,889...80,205,808
Ensembl chr10:80,150,889...80,205,572 		JBrowse link
G ASH1L ASH1 like histone lysine methyltransferase IAGP HPO OMIM:617796 NCBI chr 1:155,335,268...155,563,202
Ensembl chr 1:155,335,268...155,563,162 		JBrowse link
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 IAGP HPO OMIM:278250 NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755 		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 BICD2 BICD cargo adaptor 2 IAGP HPO OMIM:615290 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G BIN1 bridging integrator 1 IAGP HPO OMIM:255200 ORPHA:169186 NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:500 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G C19orf12 chromosome 19 open reading frame 12 IAGP HPO OMIM:614298 NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789 		JBrowse link
G CAPN3 calpain 3 IAGP HPO OMIM:253600 OMIM:618129 ORPHA:267 NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949 		JBrowse link
G CCDC8 coiled-coil domain containing 8 IAGP HPO ORPHA:2616 NCBI chr19:46,410,329...46,413,564
Ensembl chr19:46,410,329...46,413,564 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO OMIM:616471 ORPHA:610 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO ORPHA:610 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:610 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:610 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 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 OMIM:616052 ORPHA:352479 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO OMIM:618870 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029 		JBrowse link
G CUL7 cullin 7 IAGP HPO OMIM:273750 ORPHA:2616 NCBI chr 6:43,037,617...43,053,851
Ensembl chr 6:43,037,617...43,053,943 		JBrowse link
G DNM1L dynamin 1 like IAGP HPO ORPHA:98673 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP HPO ORPHA:353327 NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331 		JBrowse link
G DSTYK dual serine/threonine and tyrosine protein kinase IAGP HPO OMIM:270750 NCBI chr 1:205,142,505...205,211,702
Ensembl chr 1:205,142,505...205,211,702 		JBrowse link
G DYSF dysferlin IAGP HPO ORPHA:268 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G EMD emerin IAGP HPO ORPHA:98863 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G EMILIN1 elastin microfibril interfacer 1 IAGP HPO OMIM:620080 NCBI chr 2:27,078,615...27,086,403
Ensembl chr 2:27,078,615...27,086,403 		JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 IAGP HPO OMIM:166780 ORPHA:2792 NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO OMIM:616914 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO OMIM:300695 OMIM:300696 ORPHA:98863 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FKRP fukutin related protein IAGP ClinVar Annotator: match by term: Scapular winging ClinVar PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 More... NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FLNA filamin A IAGP HPO OMIM:305620 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FLNB filamin B IAGP HPO OMIM:272460 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FLNC filamin C IAGP HPO ORPHA:171445 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G FRG1 FSHD region gene 1 IAGP HPO OMIM:158900 NCBI chr 4:189,940,872...189,963,192
Ensembl chr 4:189,940,855...189,963,202 		JBrowse link
G GDF11 growth differentiation factor 11 IAGP HPO OMIM:619122 NCBI chr12:55,743,122...55,757,264
Ensembl chr12:55,743,122...55,757,264 		JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 IAGP HPO ORPHA:353327 NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:353327 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO ORPHA:602 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G GYG1 glycogenin 1 IAGP HPO OMIM:613507 NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775 		JBrowse link
G KBTBD13 kelch repeat and BTB domain containing 13 IAGP HPO ORPHA:171439 NCBI chr15:65,076,746...65,079,948
Ensembl chr15:65,076,746...65,079,948 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO OMIM:170390 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044 		JBrowse link
G KLHL41 kelch like family member 41 IAGP HPO ORPHA:171439 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 LGI4 leucine rich repeat LGI family member 4 IAGP HPO OMIM:617468 NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451 		JBrowse link
G LMNA lamin A/C IAGP HPO OMIM:181350 ORPHA:98853 ORPHA:98855 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LRIF1 ligand dependent nuclear receptor interacting factor 1 IAGP HPO OMIM:619477 NCBI chr 1:110,874,957...110,963,922
Ensembl chr 1:110,947,190...110,963,965 		JBrowse link
G MYBPC1 myosin binding protein C1 IAGP HPO OMIM:618524 NCBI chr12:101,594,971...101,695,841
Ensembl chr12:101,568,353...101,686,028 		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 MYPN myopalladin IAGP HPO OMIM:617336 ORPHA:171439 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G NEB nebulin IAGP HPO ORPHA:171439 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G NEFL neurofilament light chain IAGP HPO ORPHA:101085 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 IAGP HPO OMIM:612921 ORPHA:2616 NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,728...219,571,859 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP HPO ORPHA:98673 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G PAX1 paired box 1 IAGP HPO OMIM:615560 ORPHA:2792 NCBI chr20:21,705,664...21,718,481
Ensembl chr20:21,705,659...21,718,481 		JBrowse link
G PAX3 paired box 3 IAGP HPO OMIM:148820 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G PLIN4 perilipin 4 IAGP HPO OMIM:601846 NCBI chr19:4,502,192...4,518,486
Ensembl chr19:4,502,192...4,518,486 		JBrowse link
G POGLUT1 protein O-glucosyltransferase 1 IAGP HPO OMIM:617232 NCBI chr 3:119,468,963...119,494,708
Ensembl chr 3:119,468,963...119,494,708 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO OMIM:607459 ORPHA:254886 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO ORPHA:206559 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PRR12 proline rich 12 IAGP HPO OMIM:619539 NCBI chr19:49,591,182...49,626,439
Ensembl chr19:49,591,182...49,626,439 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO OMIM:151100 ORPHA:500 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G PUS1 pseudouridine synthase 1 IAGP HPO OMIM:600462 NCBI chr12:131,929,276...131,945,896
Ensembl chr12:131,929,200...131,945,896 		JBrowse link
G PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 IAGP HPO OMIM:617258 NCBI chr12:21,437,655...21,471,250
Ensembl chr12:21,437,615...21,471,250 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:500 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:169186 ORPHA:424107 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G RYR3 ryanodine receptor 3 IAGP HPO OMIM:620310 NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO OMIM:620351 OMIM:620369 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SEPTIN9 septin 9 IAGP HPO ORPHA:2901 NCBI chr17:77,281,499...77,500,596
Ensembl chr17:77,280,569...77,500,596 		JBrowse link
G SGCA sarcoglycan alpha IAGP HPO OMIM:608099 ORPHA:62 NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,928 		JBrowse link
G SGCB sarcoglycan beta IAGP HPO OMIM:604286 NCBI chr 4:52,020,706...52,038,299
Ensembl chr 4:52,020,706...52,038,299 		JBrowse link
G SGCD sarcoglycan delta IAGP HPO OMIM:601287 ORPHA:219 NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788 		JBrowse link
G SGCG sarcoglycan gamma IAGP DNA:mutation:cds: c.787G>A (p.Glu263Lys) HPO
RGD		 PMID:25802879 ORPHA:353, RGD:13605619 NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162 		JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP ClinVar Annotator: match by term: Scapular winging ClinVar
HPO		 PMID:28492532 OMIM:158901 NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017 		JBrowse link
G SMPX small muscle protein X-linked IAGP HPO OMIM:301075 NCBI chr  X:21,705,978...21,758,116
Ensembl chr  X:21,705,978...21,758,116 		JBrowse link
G SPEG striated muscle enriched protein kinase IAGP HPO ORPHA:169186 NCBI chr 2:219,434,843...219,493,629
Ensembl chr 2:219,434,843...219,493,629 		JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 IAGP HPO OMIM:619745 NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637 		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 OMIM:617158 NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO ORPHA:98853 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP HPO OMIM:612999 ORPHA:98853 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO OMIM:615582 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TK2 thymidine kinase 2 IAGP HPO OMIM:617069 ORPHA:254886 NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544 		JBrowse link
G TMEM43 transmembrane protein 43 IAGP HPO ORPHA:98853 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP HPO OMIM:620389 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
G TNPO3 transportin 3 IAGP ClinVar Annotator: match by term: Scapular winging ClinVar
HPO		 OMIM:608423 NCBI chr 7:128,954,185...129,056,193
Ensembl chr 7:128,954,180...129,055,173 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO OMIM:609285 ORPHA:171439 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 ORPHA:171439 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor IAGP HPO OMIM:617061 NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO OMIM:190350 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:181405 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TTN titin IAGP HPO OMIM:603689 ORPHA:169186 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		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 VCP valosin containing protein IAGP HPO OMIM:167320 ORPHA:329478 ORPHA:435387 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G VWA1 von Willebrand factor A domain containing 1 IAGP HPO OMIM:619216 NCBI chr 1:1,435,690...1,442,882
Ensembl chr 1:1,434,861...1,442,882 		JBrowse link
Scapuloperoneal myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FHL1 four and a half LIM domains 1 IAGP HPO OMIM:300695 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G LOC114827851 VISTA enhancer hs2155 IAGP ClinVar Annotator: match by term: Scapuloperoneal myopathy ClinVar NCBI chr14:23,404,568...23,409,443 JBrowse link
G MHRT myosin heavy chain associated RNA transcript IAGP ClinVar Annotator: match by term: Scapuloperoneal myopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr14:23,415,450...23,417,595 JBrowse link
G MYH6 myosin heavy chain 6 IAGP ClinVar Annotator: match by term: Scapuloperoneal myopathy ClinVar NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Scapuloperoneal myopathy ClinVar PMID:9536098 PMID:17576681 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
Shoulder girdle muscle atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta IAGP HPO ORPHA:64755 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G DES desmin IAGP HPO OMIM:181400 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G FKRP fukutin related protein IAGP HPO OMIM:606612 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FRG1 FSHD region gene 1 IAGP HPO OMIM:158900 NCBI chr 4:189,940,872...189,963,192
Ensembl chr 4:189,940,855...189,963,202 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO ORPHA:602 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:98856 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		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 SGCB sarcoglycan beta IAGP HPO OMIM:604286 NCBI chr 4:52,020,706...52,038,299
Ensembl chr 4:52,020,706...52,038,299 		JBrowse link
G SMN1 survival of motor neuron 1, telomeric IAGP HPO OMIM:253400 NCBI chr 5:70,924,941...70,966,375
Ensembl chr 5:70,925,030...70,953,942
Ensembl chr 5:70,925,030...70,953,942 		JBrowse link
G SMN2 survival of motor neuron 2, centromeric IAGP HPO OMIM:253400 NCBI chr 5:70,049,523...70,090,528
Ensembl chr 5:70,049,638...70,078,522
Ensembl chr 5:70,049,638...70,078,522 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO OMIM:609284 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TRIM32 tripartite motif containing 32 IAGP HPO OMIM:254110 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:606071 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G UNC45B unc-45 myosin chaperone B IAGP HPO OMIM:619178 NCBI chr17:35,147,817...35,189,345
Ensembl chr17:35,147,817...35,189,345 		JBrowse link
G VCP valosin containing protein IAGP HPO OMIM:167320 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
Shoulder girdle muscle weakness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase IAGP HPO ORPHA:98907 NCBI chr 3:43,690,870...43,734,371
Ensembl chr 3:43,690,108...43,734,371 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:2020 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G AGRN agrin IAGP HPO ORPHA:98913 NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118 		JBrowse link
G AK9 adenylate kinase 9 IAGP HPO ORPHA:98913 NCBI chr 6:109,492,855...109,691,202
Ensembl chr 6:109,492,855...109,691,217 		JBrowse link
G ANO5 anoctamin 5 IAGP HPO OMIM:611307 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP HPO ORPHA:363454 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G CAPN3 calpain 3 IAGP ClinVar Annotator: match by term: Shoulder girdle muscle weakness ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949 		JBrowse link
G CFL2 cofilin 2 IAGP HPO OMIM:610687 NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO ORPHA:98913 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit IAGP HPO ORPHA:98913 NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP HPO ORPHA:98913 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP HPO ORPHA:98913 NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438 		JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP HPO ORPHA:98913 NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275 		JBrowse link
G CRYAB crystallin alpha B IAGP HPO OMIM:608810 NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722 		JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Shoulder weakness ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP HPO OMIM:615156 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121 		JBrowse link
G DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 IAGP HPO OMIM:603511 NCBI chr 7:157,337,004...157,417,439
Ensembl chr 7:157,335,381...157,417,439 		JBrowse link
G DOK7 docking protein 7 IAGP HPO ORPHA:98913 NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G DYSF dysferlin IAGP HPO ORPHA:45448 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G FKRP fukutin related protein IAGP HPO OMIM:606612 OMIM:607155 ORPHA:34515 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FRG1 FSHD region gene 1 IAGP HPO OMIM:158900 NCBI chr 4:189,940,872...189,963,192
Ensembl chr 4:189,940,855...189,963,202 		JBrowse link
G GALC galactosylceramidase IAGP HPO ORPHA:206436 NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO ORPHA:99948 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO ORPHA:602 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G GYG1 glycogenin 1 IAGP HPO OMIM:616199 ORPHA:263297 NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775 		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 HNRNPDL heterogeneous nuclear ribonucleoprotein D like IAGP HPO OMIM:609115 NCBI chr 4:82,422,564...82,430,462
Ensembl chr 4:82,422,565...82,430,462 		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 LRIF1 ligand dependent nuclear receptor interacting factor 1 IAGP HPO OMIM:619477 NCBI chr 1:110,874,957...110,963,922
Ensembl chr 1:110,947,190...110,963,965 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO ORPHA:98913 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		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 OMIM:606070 ORPHA:600 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 MT-TE mitochondrially encoded tRNA-Glu (GAA/G) IAGP HPO ORPHA:2596 NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO ORPHA:98913 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		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 MYL2 myosin light chain 2 IAGP HPO ORPHA:2020 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,910,819...110,921,443 		JBrowse link
G MYOT myotilin IAGP HPO ORPHA:266 NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851 		JBrowse link
G PLIN4 perilipin 4 IAGP HPO OMIM:601846 NCBI chr19:4,502,192...4,518,486
Ensembl chr19:4,502,192...4,518,486 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP HPO ORPHA:98908 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO ORPHA:254892 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP HPO ORPHA:254892 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054 		JBrowse link
G PSAP prosaposin IAGP HPO ORPHA:206436 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP HPO ORPHA:98913 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO ORPHA:254892 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:98905 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 ORPHA:98913 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SELENON selenoprotein N IAGP HPO ORPHA:2020 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP HPO ORPHA:254892 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP ClinVar Annotator: match by term: Shoulder girdle muscle weakness ClinVar PMID:25741868 NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017 		JBrowse link
G SMN1 survival of motor neuron 1, telomeric IAGP HPO OMIM:253400 NCBI chr 5:70,924,941...70,966,375
Ensembl chr 5:70,925,030...70,953,942
Ensembl chr 5:70,925,030...70,953,942 		JBrowse link
G SMN2 survival of motor neuron 2, centromeric IAGP HPO OMIM:253400 NCBI chr 5:70,049,523...70,090,528
Ensembl chr 5:70,049,638...70,078,522
Ensembl chr 5:70,049,638...70,078,522 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP HPO OMIM:620389 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
G TNPO3 transportin 3 IAGP HPO OMIM:608423 NCBI chr 7:128,954,185...129,056,193
Ensembl chr 7:128,954,180...129,055,173 		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 ORPHA:2020 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TRIM32 tripartite motif containing 32 IAGP HPO OMIM:254110 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300 		JBrowse link
G TTN titin IAGP HPO OMIM:603689 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TWNK twinkle mtDNA helicase IAGP HPO ORPHA:254892 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
G VCP valosin containing protein IAGP HPO OMIM:167320 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
Shoulder muscle hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP HPO ORPHA:1826 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO OMIM:274000 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678 		JBrowse link
Small hypothenar eminence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP HPO OMIM:268305 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151 		JBrowse link
G FGD4 FYVE, RhoGEF and PH domain containing 4 IAGP HPO OMIM:609311 NCBI chr12:32,399,558...32,646,050
Ensembl chr12:32,399,558...32,646,050 		JBrowse link
G RPL11 ribosomal protein L11 IAGP HPO OMIM:612562 NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835 		JBrowse link
Small thenar eminence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP HPO OMIM:268305 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151 		JBrowse link
G EMILIN1 elastin microfibril interfacer 1 IAGP HPO OMIM:620080 NCBI chr 2:27,078,615...27,086,403
Ensembl chr 2:27,078,615...27,086,403 		JBrowse link
G FBXW11 F-box and WD repeat domain containing 11 IAGP HPO OMIM:618914 NCBI chr 5:171,861,549...172,006,638
Ensembl chr 5:171,861,549...172,006,873 		JBrowse link
G FGD4 FYVE, RhoGEF and PH domain containing 4 IAGP HPO OMIM:609311 NCBI chr12:32,399,558...32,646,050
Ensembl chr12:32,399,558...32,646,050 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO OMIM:149730 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G HOXA13 homeobox A13 IAGP HPO OMIM:140000 NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091 		JBrowse link
G RAD51C RAD51 paralog C IAGP HPO OMIM:613390 NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611 		JBrowse link
G RPL11 ribosomal protein L11 IAGP DNA:missense mutation, nonsense mutation:cds:p.L20H, p.Y119X RGD PMID:19191325 RGD:11535122 NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835 		JBrowse link
G RPL5 ribosomal protein L5 IAGP DNA:snps, duplication, deletions:exons:multiple RGD PMID:19191325 RGD:11535122 NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924 		JBrowse link
G RPS19 ribosomal protein S19 IAGP HPO OMIM:105650 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO OMIM:147750 OMIM:607323 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO OMIM:142900 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442 		JBrowse link
Thenar muscle atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO OMIM:270685 OMIM:619112 ORPHA:139536 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO OMIM:619161 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 IAGP HPO OMIM:600794 OMIM:601472 ORPHA:139536 NCBI chr 7:30,594,735...30,634,033
Ensembl chr 7:30,580,533...30,634,033 		JBrowse link
G GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 IAGP HPO OMIM:606483 NCBI chr10:102,230,643...102,382,896
Ensembl chr10:102,245,371...102,382,899 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO OMIM:607015 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G ITPR3 inositol 1,4,5-trisphosphate receptor type 3 IAGP HPO OMIM:620111 NCBI chr 6:33,621,322...33,696,562
Ensembl chr 6:33,620,365...33,696,574 		JBrowse link
G NEB nebulin IAGP HPO OMIM:256030 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G PDK3 pyruvate dehydrogenase kinase 3 IAGP HPO ORPHA:352675 NCBI chr  X:24,465,286...24,550,466
Ensembl chr  X:24,465,244...24,550,466 		JBrowse link
G PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 IAGP HPO OMIM:612394 NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,218,420 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO OMIM:118300 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G REEP1 receptor accessory protein 1 IAGP HPO OMIM:614751 ORPHA:139536 NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP HPO OMIM:612350 ORPHA:157965 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496 		JBrowse link
G SLC5A6 solute carrier family 5 member 6 IAGP HPO OMIM:619903 NCBI chr 2:27,199,587...27,212,787
Ensembl chr 2:27,199,587...27,212,958 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO OMIM:604360 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
Thenar muscle weakness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO OMIM:270685 ORPHA:139536 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G FLNC filamin C IAGP HPO OMIM:614065 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 IAGP HPO OMIM:600794 OMIM:601472 ORPHA:139536 NCBI chr 7:30,594,735...30,634,033
Ensembl chr 7:30,580,533...30,634,033 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO OMIM:118300 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G REEP1 receptor accessory protein 1 IAGP HPO ORPHA:139536 NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083 		JBrowse link
Thigh hypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein IAGP HPO OMIM:606612 OMIM:607155 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:86812 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
Tibialis muscle weakness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYSF dysferlin IAGP HPO ORPHA:178400 ORPHA:45448 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G GIPC1 GIPC PDZ domain containing family member 1 IAGP HPO ORPHA:98897 NCBI chr19:14,477,762...14,496,127
Ensembl chr19:14,477,760...14,496,149 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO ORPHA:602 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G LRP12 LDL receptor related protein 12 IAGP HPO ORPHA:98897 NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue IAGP HPO ORPHA:320375 NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079 		JBrowse link
G NOTCH2NLC notch 2 N-terminal like C IAGP HPO ORPHA:98897 NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833 		JBrowse link
G RILPL1 Rab interacting lysosomal protein like 1 IAGP HPO ORPHA:98897 NCBI chr12:123,470,054...123,533,719
Ensembl chr12:123,470,054...123,533,719 		JBrowse link
G TTN titin IAGP HPO OMIM:600334 ORPHA:178464 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
Toe extensor amyotrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C IAGP HPO ORPHA:98856 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO OMIM:160500 ORPHA:59135 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
Triceps aplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO OMIM:161200 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
Triceps weakness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADSS1 adenylosuccinate synthase 1 IAGP HPO ORPHA:482601 NCBI chr14:104,724,229...104,747,325
Ensembl chr14:104,724,174...104,747,325 		JBrowse link
G AGRN agrin IAGP HPO ORPHA:98913 NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118 		JBrowse link
G AK9 adenylate kinase 9 IAGP HPO ORPHA:98913 NCBI chr 6:109,492,855...109,691,202
Ensembl chr 6:109,492,855...109,691,217 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO ORPHA:98913 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit IAGP HPO ORPHA:98913 NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP HPO ORPHA:98913 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP HPO ORPHA:98913 NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438 		JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP HPO ORPHA:98913 NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275 		JBrowse link
G DOK7 docking protein 7 IAGP HPO ORPHA:98913 NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G DYSF dysferlin IAGP HPO ORPHA:45448 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G FBXO38 F-box protein 38 IAGP HPO OMIM:615575 NCBI chr 5:148,383,958...148,442,836
Ensembl chr 5:148,383,935...148,442,836 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 IAGP HPO OMIM:619574 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO ORPHA:98913 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G MFN2 mitofusin 2 IAGP HPO ORPHA:99947 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO ORPHA:98913 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:86812 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP HPO ORPHA:98913 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO ORPHA:98913 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
Upper limb amyotrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADSS1 adenylosuccinate synthase 1 IAGP HPO ORPHA:482601 NCBI chr14:104,724,229...104,747,325
Ensembl chr14:104,724,174...104,747,325 		JBrowse link
G ANO5 anoctamin 5 IAGP HPO ORPHA:206549 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP HPO OMIM:270800 ORPHA:100986 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 IAGP HPO OMIM:600794 OMIM:601472 NCBI chr 7:30,594,735...30,634,033
Ensembl chr 7:30,580,533...30,634,033 		JBrowse link
G HK1 hexokinase 1 IAGP HPO ORPHA:99953 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 IAGP HPO OMIM:606595 ORPHA:99940 NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,304,295 		JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP HPO OMIM:616268 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		JBrowse link
G KIF5A kinesin family member 5A IAGP HPO ORPHA:100991 NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		JBrowse link
G KY kyphoscoliosis peptidase IAGP HPO ORPHA:496689 NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636 		JBrowse link
G MFN2 mitofusin 2 IAGP HPO OMIM:617087 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		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 NDRG1 N-myc downstream regulated 1 IAGP HPO ORPHA:99950 NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022 		JBrowse link
G NEFH neurofilament heavy chain IAGP HPO OMIM:616924 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390 		JBrowse link
G SEPTIN9 septin 9 IAGP HPO ORPHA:2901 NCBI chr17:77,281,499...77,500,596
Ensembl chr17:77,280,569...77,500,596 		JBrowse link
Upper limb hypertonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN11 claudin 11 IAGP HPO OMIM:619328 NCBI chr 3:170,418,868...170,434,691
Ensembl chr 3:170,418,868...170,454,733 		JBrowse link
G GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by term: Upper limb hypertonia ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292 		JBrowse link
G MTPAP mitochondrial poly(A) polymerase IAGP HPO OMIM:613672 ORPHA:254343 NCBI chr10:30,309,801...30,349,278
Ensembl chr10:30,309,801...30,374,448 		JBrowse link
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase IAGP HPO ORPHA:2524 NCBI chr 4:25,120,014...25,160,582
Ensembl chr 4:25,120,014...25,160,550 		JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP HPO OMIM:607259 NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766 		JBrowse link
G TSEN15 tRNA splicing endonuclease subunit 15 IAGP HPO ORPHA:2524 NCBI chr 1:184,051,730...184,097,485
Ensembl chr 1:184,051,651...184,123,978 		JBrowse link
G TSEN2 tRNA splicing endonuclease subunit 2 IAGP HPO ORPHA:2524 NCBI chr 3:12,480,231...12,539,624
Ensembl chr 3:12,484,421...12,541,549 		JBrowse link
G TSEN34 tRNA splicing endonuclease subunit 34 IAGP HPO ORPHA:2524 NCBI chr19:54,189,441...54,194,532
Ensembl chr19:54,189,938...54,194,536 		JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP HPO ORPHA:2524 NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735 		JBrowse link
G VPS37A VPS37A subunit of ESCRT-I IAGP HPO OMIM:614898 ORPHA:319199 NCBI chr 8:17,246,958...17,333,455
Ensembl chr 8:17,246,931...17,302,427 		JBrowse link
Upper limb muscle hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SALL4 spalt like transcription factor 4 IAGP HPO OMIM:607323 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
Upper limb muscle weakness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:225154 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G AGRN agrin IAGP HPO ORPHA:98913 NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118 		JBrowse link
G AK9 adenylate kinase 9 IAGP HPO ORPHA:98913 NCBI chr 6:109,492,855...109,691,202
Ensembl chr 6:109,492,855...109,691,217 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:2495 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		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 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 B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 IAGP HPO OMIM:609195 NCBI chr12:57,623,409...57,633,201
Ensembl chr12:57,623,409...57,633,239 		JBrowse link
G BAP1 BRCA1 associated protein 1 IAGP HPO ORPHA:2495 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO ORPHA:139536 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G CCND1 cyclin D1 IAGP HPO ORPHA:892 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 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 ORPHA:98913 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit IAGP HPO ORPHA:98913 NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP HPO ORPHA:98913 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP HPO ORPHA:98913 NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438 		JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP HPO ORPHA:98913 NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275 		JBrowse link
G COL25A1 collagen type XXV alpha 1 chain IAGP HPO ORPHA:1143 NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP HPO OMIM:270800 ORPHA:100986 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737 		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 DNMT3B DNA methyltransferase 3 beta IAGP HPO OMIM:619478 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359 		JBrowse link
G DOK7 docking protein 7 IAGP HPO ORPHA:98913 NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G EGR2 early growth response 2 IAGP HPO OMIM:605253 OMIM:607678 NCBI chr10:62,811,996...62,819,167
Ensembl chr10:62,811,996...62,819,167 		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 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP HPO ORPHA:1143 NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP HPO OMIM:620512 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		JBrowse link
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:617046 NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192 		JBrowse link
G FGD4 FYVE, RhoGEF and PH domain containing 4 IAGP HPO OMIM:609311 NCBI chr12:32,399,558...32,646,050
Ensembl chr12:32,399,558...32,646,050 		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 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 GALC galactosylceramidase IAGP HPO ORPHA:206443 ORPHA:206448 NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 IAGP HPO OMIM:600794 OMIM:601472 ORPHA:139536 NCBI chr 7:30,594,735...30,634,033
Ensembl chr 7:30,580,533...30,634,033 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO OMIM:608340 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		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 GYG1 glycogenin 1 IAGP HPO ORPHA:263297 NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775 		JBrowse link
G HEXB hexosaminidase subunit beta IAGP HPO ORPHA:309169 NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647 		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 IGHMBP2 immunoglobulin mu DNA binding protein 2 IAGP HPO OMIM:616155 NCBI chr11:68,903,891...68,940,601
Ensembl chr11:68,903,863...68,940,602 		JBrowse link
G KIF5A kinesin family member 5A IAGP HPO OMIM:604187 NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		JBrowse link
G LMNA lamin A/C IAGP HPO OMIM:605588 OMIM:613205 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LRP12 LDL receptor related protein 12 IAGP HPO OMIM:620452 NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO ORPHA:98913 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		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 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 MPZ myelin protein zero IAGP HPO OMIM:607677 OMIM:607791 NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:225154 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue IAGP HPO ORPHA:254930 ORPHA:320375 NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO ORPHA:98913 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G NEFH neurofilament heavy chain IAGP HPO OMIM:616924 ORPHA:803 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390 		JBrowse link
G NEFL neurofilament light chain IAGP HPO ORPHA:99939 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		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 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:2495 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598 		JBrowse link
G NUP54 nucleoporin 54 IAGP HPO ORPHA:225154 NCBI chr 4:76,114,664...76,148,397
Ensembl chr 4:76,107,562...76,148,485 		JBrowse link
G NUP62 nucleoporin 62 IAGP HPO ORPHA:225154 NCBI chr19:49,906,825...49,929,504
Ensembl chr19:49,906,825...49,929,764 		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 PDGFB platelet derived growth factor subunit B IAGP HPO ORPHA:2495 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PDXK pyridoxal kinase IAGP HPO OMIM:618511 NCBI chr21:43,719,129...43,762,299
Ensembl chr21:43,719,094...43,762,307 		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 PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO OMIM:617146 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:2495 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		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 POU3F4 POU class 3 homeobox 4 IAGP HPO ORPHA:1435 NCBI chr  X:83,508,290...83,512,127
Ensembl chr  X:83,508,290...83,512,127 		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 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 RAPSN receptor associated protein of the synapse IAGP HPO ORPHA:98913 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G REEP1 receptor accessory protein 1 IAGP HPO ORPHA:139536 NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083 		JBrowse link
G SBF1 SET binding factor 1 IAGP HPO OMIM:615284 NCBI chr22:50,445,000...50,475,035
Ensembl chr22:50,443,219...50,483,923 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO ORPHA:98913 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SCYL2 SCY1 like pseudokinase 2 IAGP HPO ORPHA:1143 NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715 		JBrowse link
G SEPTIN9 septin 9 IAGP HPO ORPHA:2901 NCBI chr17:77,281,499...77,500,596
Ensembl chr17:77,280,569...77,500,596 		JBrowse link
G SGCG sarcoglycan gamma IAGP HPO ORPHA:353 NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP HPO OMIM:601596 NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP HPO ORPHA:2495 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP HPO ORPHA:2495 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO ORPHA:2495 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		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 SPART spartin IAGP HPO ORPHA:101000 NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180 		JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP HPO OMIM:607259 ORPHA:99013 NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766 		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 SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:2495 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		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 TERT telomerase reverse transcriptase IAGP HPO ORPHA:2495 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TFG trafficking from ER to golgi regulator IAGP HPO ORPHA:90117 NCBI chr 3:100,709,290...100,748,967
Ensembl chr 3:100,709,295...100,748,964 		JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP HPO ORPHA:2495 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		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 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 VAPB VAMP associated protein B and C IAGP HPO ORPHA:209335 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:803 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP HPO ORPHA:892 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667 		JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 IAGP HPO OMIM:608323 NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031 		JBrowse link
G ZFYVE26 zinc finger FYVE-type containing 26 IAGP HPO ORPHA:100996 NCBI chr14:67,728,892...67,816,590
Ensembl chr14:67,727,374...67,816,590 		JBrowse link
Weak grip term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CADM3 cell adhesion molecule 3 IAGP HPO OMIM:619519 NCBI chr 1:159,171,615...159,203,313
Ensembl chr 1:159,171,609...159,203,313 		JBrowse link
Weakness of long finger extensor muscles term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGRN agrin IAGP HPO ORPHA:98913 NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118 		JBrowse link
G AK9 adenylate kinase 9 IAGP HPO ORPHA:98913 NCBI chr 6:109,492,855...109,691,202
Ensembl chr 6:109,492,855...109,691,217 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO ORPHA:98913 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit IAGP HPO ORPHA:98913 NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP HPO ORPHA:98913 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP HPO ORPHA:98913 NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438 		JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP HPO ORPHA:98913 NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275 		JBrowse link
G DOK7 docking protein 7 IAGP HPO ORPHA:98913 NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO ORPHA:602 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 IAGP HPO ORPHA:324442 NCBI chr 5:131,159,027...131,165,256
Ensembl chr 5:131,155,383...131,224,468 		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 LRP4 LDL receptor related protein 4 IAGP HPO ORPHA:98913 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO ORPHA:98913 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO OMIM:160500 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G NEB nebulin IAGP HPO ORPHA:399103 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP HPO ORPHA:98913 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO ORPHA:98913 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SQSTM1 sequestosome 1 IAGP HPO ORPHA:603 NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
G TIA1 TIA1 cytotoxic granule associated RNA binding protein IAGP HPO ORPHA:603 NCBI chr 2:70,209,444...70,248,793
Ensembl chr 2:70,209,444...70,248,660 		JBrowse link
G TTN titin IAGP HPO ORPHA:609 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
Weakness of the intrinsic hand muscles term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGRN agrin IAGP HPO ORPHA:98913 NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118 		JBrowse link
G AK9 adenylate kinase 9 IAGP HPO ORPHA:98913 NCBI chr 6:109,492,855...109,691,202
Ensembl chr 6:109,492,855...109,691,217 		JBrowse link
G CADM3 cell adhesion molecule 3 IAGP HPO OMIM:619519 NCBI chr 1:159,171,615...159,203,313
Ensembl chr 1:159,171,609...159,203,313 		JBrowse link
G CAV3 caveolin 3 IAGP HPO ORPHA:488650 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO ORPHA:98913 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit IAGP HPO ORPHA:98913 NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP HPO ORPHA:98913 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP HPO ORPHA:98913 NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438 		JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP HPO ORPHA:98913 NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275 		JBrowse link
G DOK7 docking protein 7 IAGP HPO ORPHA:98913 NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G DYSF dysferlin IAGP HPO ORPHA:178400 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G FBXO38 F-box protein 38 IAGP HPO OMIM:615575 NCBI chr 5:148,383,958...148,442,836
Ensembl chr 5:148,383,935...148,442,836 		JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 IAGP HPO ORPHA:324442 NCBI chr 5:131,159,027...131,165,256
Ensembl chr 5:131,155,383...131,224,468 		JBrowse link
G KLHL9 kelch like family member 9 IAGP HPO ORPHA:399081 NCBI chr 9:21,329,665...21,335,404
Ensembl chr 9:21,329,665...21,335,404 		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 LRP4 LDL receptor related protein 4 IAGP HPO ORPHA:98913 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G MB myoglobin IAGP HPO OMIM:620286 NCBI chr22:35,606,764...35,623,354
Ensembl chr22:35,606,764...35,637,951 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO ORPHA:98913 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G NEB nebulin IAGP HPO ORPHA:399103 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP HPO ORPHA:98913 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO ORPHA:98913 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 IAGP HPO OMIM:614373 NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844 		JBrowse link
G STIM1 stromal interaction molecule 1 IAGP HPO OMIM:160565 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		JBrowse link
G VCP valosin containing protein IAGP HPO OMIM:616687 ORPHA:329478 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
Wrist drop term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO OMIM:616852 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G CADM3 cell adhesion molecule 3 IAGP HPO OMIM:619519 NCBI chr 1:159,171,615...159,203,313
Ensembl chr 1:159,171,609...159,203,313 		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 MORC2 MORC family CW-type zinc finger 2 IAGP HPO OMIM:616688 NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:637 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598 		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 REEP1 receptor accessory protein 1 IAGP HPO OMIM:620011 NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of limbs 2585
        Abnormality of the musculature of the limbs 650
          Abnormality of the musculature of the lower limbs + 110
          Abnormality of the musculature of the upper limbs + 280
          Aplasia/Hypoplasia involving the musculature of the extremities + 5
          Asymmetric limb muscle stiffness 0
          Generalized weakness of limb muscles 6
          Limb hypertonia + 157
          Limb muscle weakness + 357
          Limb-girdle muscle atrophy + 47
          Limb-girdle muscle weakness + 103
          Proximal limb muscle stiffness 0
Path 2
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the musculoskeletal system 4416
        Abnormality of the musculature 3200
          Abnormal skeletal muscle morphology 2012
            Abnormality of the musculature of the limbs 650
              Abnormality of the musculature of the lower limbs + 110
              Abnormality of the musculature of the upper limbs + 280
              Aplasia/Hypoplasia involving the musculature of the extremities + 5
              Asymmetric limb muscle stiffness 0
              Generalized weakness of limb muscles 6
              Limb hypertonia + 157
              Limb muscle weakness + 357
              Limb-girdle muscle atrophy + 47
              Limb-girdle muscle weakness + 103
              Proximal limb muscle stiffness 0
paths to the root