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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 upper limbs
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Accession:HP:0001446 term browser browse the term
Synonyms:exact_synonym: Abnormal upper limb muscles
 xref: UMLS:C4025779



show annotations for term's descendants           Sort by:
 
Abnormality of the hypothenar eminence term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAAS aladin WD repeat nucleoporin IAGP ORPHA:869 HPO NCBI chr12:53,307,456...53,321,610
Ensembl chr12:53,307,456...53,324,864
JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A IAGP ORPHA:869 HPO 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 ORPHA:869 HPO NCBI chr 4:183,659,277...183,713,592
Ensembl chr 4:183,659,267...183,713,594
JBrowse link
Abnormality of the musculature of the upper arm term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMAD6 SMAD family member 6 IAGP ORPHA:3269 HPO NCBI chr15:66,702,110...66,782,849
Ensembl chr15:66,702,236...66,782,849
JBrowse link
Abnormality of the shoulder girdle musculature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA2 patatin like phospholipase domain containing 2 IAGP ORPHA:565612 HPO NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573
JBrowse link
Abnormality of the thenar eminence term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 IAGP ORPHA:124 HPO NCBI chr22:17,178,790...17,221,854
Ensembl chr22:17,178,790...17,258,235
JBrowse link
G GATA1 GATA binding protein 1 IAGP ORPHA:124 HPO NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,562...48,794,311
JBrowse link
G RPL11 ribosomal protein L11 IAGP ORPHA:124 HPO 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 ORPHA:124 HPO 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 ORPHA:124 HPO NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184
JBrowse link
G RPL26 ribosomal protein L26 IAGP ORPHA:124 HPO NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213
JBrowse link
G RPL27 ribosomal protein L27 IAGP ORPHA:124 HPO NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959
JBrowse link
G RPL31 ribosomal protein L31 IAGP ORPHA:124 HPO 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 ORPHA:124 HPO 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 ORPHA:124 HPO 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 ORPHA:124 HPO NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924
JBrowse link
G RPS10 ribosomal protein S10 IAGP ORPHA:124 HPO 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 ORPHA:124 HPO NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383
JBrowse link
G RPS17 ribosomal protein S17 IAGP ORPHA:124 HPO NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459
JBrowse link
G RPS19 ribosomal protein S19 IAGP ORPHA:124 HPO NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925
JBrowse link
G RPS20 ribosomal protein S20 IAGP ORPHA:124 HPO 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 ORPHA:124 HPO NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813
JBrowse link
G RPS26 ribosomal protein S26 IAGP ORPHA:124 HPO NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697
JBrowse link
G RPS27 ribosomal protein S27 IAGP ORPHA:124 HPO 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 ORPHA:124 HPO NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340
JBrowse link
G RPS29 ribosomal protein S29 IAGP ORPHA:124 HPO NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164
JBrowse link
G RPS7 ribosomal protein S7 IAGP ORPHA:124 HPO 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 ORPHA:124 HPO NCBI chr  X:54,440,404...54,448,032
Ensembl chr  X:54,440,404...54,448,032
JBrowse link
Aplasia of the pectoralis major muscle term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYMK myomaker, myoblast fusion factor IAGP ORPHA:1358 HPO NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612
JBrowse link
G PLXND1 plexin D1 IAGP ORPHA:570 HPO 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 ORPHA:570 HPO 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 ORPHA:3138 HPO 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 OMIM:142900 HPO NCBI chr12:114,353,911...114,408,708
Ensembl chr12:114,353,911...114,408,442
JBrowse link
Biceps aplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMX1B LIM homeobox transcription factor 1 beta IAGP OMIM:161200 HPO NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032
JBrowse link
Distal upper limb amyotrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP126 centrosomal protein 126 IAGP ORPHA:65684 HPO 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 ORPHA:65684 HPO NCBI chr 5:37,063,928...37,249,499
Ensembl chr 5:37,106,228...37,249,376
JBrowse link
G DYSF dysferlin IAGP ORPHA:45448 HPO NCBI chr 2:71,453,154...71,686,763
Ensembl chr 2:71,453,561...71,686,763
JBrowse link
G FLNC filamin C IAGP OMIM:614065 HPO 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 ORPHA:98897 HPO NCBI chr19:14,477,761...14,496,133
Ensembl chr19:14,477,760...14,496,149
JBrowse link
G GJB1 gap junction protein beta 1 IAGP OMIM:302800 HPO NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516
JBrowse link
G INF2 inverted formin 2 IAGP OMIM:614455 HPO NCBI chr14:104,689,618...104,722,535
Ensembl chr14:104,681,146...104,722,535
JBrowse link
G MATR3 matrin 3 IAGP ORPHA:600 HPO 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
Finger flexor weakness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYSF dysferlin IAGP ORPHA:178400 HPO NCBI chr 2:71,453,154...71,686,763
Ensembl chr 2:71,453,561...71,686,763
JBrowse link
G FLNC filamin C IAGP ORPHA:63273 HPO NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274
JBrowse link
Hand muscle atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP OMIM:616852 HPO 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 OMIM:205100 HPO NCBI chr 2:201,700,267...201,781,153
Ensembl chr 2:201,700,267...201,782,112
JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP ORPHA:100998 HPO NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
JBrowse link
G DCTN1 dynactin subunit 1 IAGP OMIM:607641 HPO NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087
JBrowse link
G FUZ fuzzy planar cell polarity protein IAGP ORPHA:1136 HPO NCBI chr19:49,806,866...49,817,376
Ensembl chr19:49,806,866...49,817,376
JBrowse link
G FXN frataxin IAGP ORPHA:95 HPO 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 ORPHA:99944 HPO 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 PMID:25741868 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516
JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP ORPHA:363958 HPO NCBI chr17:46,027,335...46,225,370
Ensembl chr17:46,029,916...46,225,389
JBrowse link
G NEFL neurofilament light chain IAGP ClinVar Annotator: match by term: Hand muscle degeneration
ORPHA:101085
ClinVar
HPO
PMID:12481988 PMID:15111691 PMID:16452125 PMID:19286384 PMID:21168446 More... 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 ORPHA:90658 HPO NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292
JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP ORPHA:99949 HPO NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163
JBrowse link
G SLC25A21 solute carrier family 25 member 21 IAGP OMIM:618811 HPO NCBI chr14:36,677,318...37,172,606
Ensembl chr14:36,677,921...37,172,606
JBrowse link
G SLC52A3 solute carrier family 52 member 3 IAGP OMIM:211530 HPO NCBI chr20:760,080...775,985
Ensembl chr20:760,080...776,015
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP OMIM:606071 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
G VCP valosin containing protein IAGP ORPHA:435387 HPO 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BICD2 BICD cargo adaptor 2 IAGP ORPHA:363454 HPO NCBI chr 9:92,711,363...92,764,841
Ensembl chr 9:92,711,363...92,764,833
JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP ORPHA:100998 HPO NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
JBrowse link
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase IAGP ORPHA:98915 HPO 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 OMIM:607641 HPO NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087
JBrowse link
G GJB1 gap junction protein beta 1 IAGP OMIM:302800 HPO NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP ORPHA:488333 HPO NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
JBrowse link
G LAMB2 laminin subunit beta 2 IAGP ORPHA:98915 HPO NCBI chr 3:49,121,114...49,133,066
Ensembl chr 3:49,121,114...49,133,118
JBrowse link
G MFN2 mitofusin 2 IAGP ORPHA:99947 HPO NCBI chr 1:11,980,215...12,013,508
Ensembl chr 1:11,980,181...12,015,211
JBrowse link
G MORC2 MORC family CW-type zinc finger 2 IAGP ORPHA:466768 HPO NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774
JBrowse link
G MYH7 myosin heavy chain 7 IAGP ORPHA:437572 HPO NCBI chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G NEFL neurofilament light chain IAGP ORPHA:101085 HPO 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 OMIM:300905 HPO 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 ORPHA:90658 HPO 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 ORPHA:98908 HPO NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ORPHA:254886 HPO 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 ORPHA:101011 HPO NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083
JBrowse link
G TK2 thymidine kinase 2 IAGP ORPHA:254886 HPO NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544
JBrowse link
Hypoplasia of deltoid muscle term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SALL4 spalt like transcription factor 4 IAGP OMIM:147750 HPO 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP ORPHA:1826 HPO 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 OMIM:610443 HPO NCBI chr17:46,027,335...46,225,370
Ensembl chr17:46,029,916...46,225,389
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP ORPHA:1826 HPO NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,072
JBrowse link
G NEFL neurofilament light chain IAGP OMIM:607684 HPO NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
JBrowse link
Intrinsic hand muscle atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAV3 caveolin 3 IAGP ORPHA:488650 HPO 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 ORPHA:276435 HPO NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972
JBrowse link
G DYSF dysferlin IAGP ORPHA:178400 HPO NCBI chr 2:71,453,154...71,686,763
Ensembl chr 2:71,453,561...71,686,763
JBrowse link
G FLNC filamin C IAGP ORPHA:63273 HPO NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP ORPHA:488333 HPO 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 ORPHA:324442 HPO 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 ORPHA:399081 HPO 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 ORPHA:98912 HPO NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072
JBrowse link
G MPZ myelin protein zero IAGP ORPHA:3115 HPO NCBI chr 1:161,303,594...161,309,969
Ensembl chr 1:161,304,735...161,309,968
JBrowse link
G NGLY1 N-glycanase 1 IAGP OMIM:615273 HPO NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039
JBrowse link
G PMP22 peripheral myelin protein 22 IAGP ORPHA:3115 HPO NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292
JBrowse link
G RYR1 ryanodine receptor 1 IAGP ORPHA:178145 HPO NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
JBrowse link
G SQSTM1 sequestosome 1 IAGP ORPHA:603 HPO 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 OMIM:618569 HPO 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 ORPHA:603 HPO NCBI chr 2:70,209,444...70,248,793
Ensembl chr 2:70,209,444...70,248,660
JBrowse link
G VCP valosin containing protein IAGP ORPHA:329478 HPO NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668
JBrowse link
Pectoral muscle hypoplasia/aplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX1 ALX homeobox 1 IAGP ORPHA:306542 HPO NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784
JBrowse link
G ALX3 ALX homeobox 3 IAGP OMIM:136760 HPO 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYMK myomaker, myoblast fusion factor IAGP OMIM:254940 HPO 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 OMIM:607323 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
Proximal muscle weakness in upper limbs term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 IAGP ORPHA:206549 ORPHA:399096 HPO NCBI chr11:22,192,485...22,283,357
Ensembl chr11:21,782,659...22,283,567
JBrowse link
G BIN1 bridging integrator 1 IAGP ORPHA:169189 HPO 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 ORPHA:276435 HPO NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972
JBrowse link
G CPOX coproporphyrinogen oxidase IAGP ORPHA:79273 HPO NCBI chr 3:98,569,837...98,593,684
Ensembl chr 3:98,579,446...98,593,648
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP ORPHA:352479 HPO 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 ORPHA:169189 HPO NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488
JBrowse link
G DYSF dysferlin IAGP ORPHA:268 HPO NCBI chr 2:71,453,154...71,686,763
Ensembl chr 2:71,453,561...71,686,763
JBrowse link
G EMD emerin IAGP ORPHA:98863 HPO NCBI chr  X:154,379,236...154,381,523
Ensembl chr  X:154,379,273...154,381,574
JBrowse link
G FHL1 four and a half LIM domains 1 IAGP ORPHA:98863 HPO NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359
JBrowse link
G GIPC1 GIPC PDZ domain containing family member 1 IAGP ORPHA:98897 HPO NCBI chr19:14,477,761...14,496,133
Ensembl chr19:14,477,760...14,496,149
JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP ORPHA:363623 HPO 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 ORPHA:79276 HPO NCBI chr11:119,084,864...119,093,549
Ensembl chr11:119,084,866...119,093,834
JBrowse link
G KY kyphoscoliosis peptidase IAGP ORPHA:496689 HPO 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 OMIM:618138 HPO 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 ORPHA:98912 HPO 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 ORPHA:435660 HPO NCBI chr19:42,401,512...42,427,421
Ensembl chr19:42,401,514...42,427,388
JBrowse link
G LMNA lamin A/C IAGP ORPHA:98853 ORPHA:98855 HPO 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 ORPHA:466768 HPO 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 ORPHA:169189 HPO NCBI chr 3:9,649,465...9,702,393
Ensembl chr 3:9,649,433...9,702,393
JBrowse link
G MYF6 myogenic factor 6 IAGP ORPHA:169189 HPO NCBI chr12:80,707,634...80,709,474
Ensembl chr12:80,707,634...80,709,474
JBrowse link
G NEFL neurofilament light chain IAGP ORPHA:101085 HPO NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
JBrowse link
G PPOX protoporphyrinogen oxidase IAGP ORPHA:79473 HPO NCBI chr 1:161,165,824...161,178,277
Ensembl chr 1:161,166,056...161,178,013
JBrowse link
G RYR1 ryanodine receptor 1 IAGP ORPHA:169189 HPO NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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 SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP ORPHA:98853 HPO NCBI chr 6:152,121,687...152,637,395
Ensembl chr 6:152,121,687...152,637,801
JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP ORPHA:98853 HPO NCBI chr14:63,761,904...64,226,449
Ensembl chr14:63,761,899...64,226,433
JBrowse link
G TCAP titin-cap IAGP OMIM:601954 HPO NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554
JBrowse link
G TMEM43 transmembrane protein 43 IAGP ORPHA:98853 HPO NCBI chr 3:14,125,006...14,143,680
Ensembl chr 3:14,125,015...14,143,680
JBrowse link
G VCP valosin containing protein IAGP ORPHA:435387 HPO 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 OMIM:619216 HPO 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EMD emerin IAGP ORPHA:98863 HPO NCBI chr  X:154,379,236...154,381,523
Ensembl chr  X:154,379,273...154,381,574
JBrowse link
G FHL1 four and a half LIM domains 1 IAGP ORPHA:98863 HPO 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 OMIM:609115 HPO 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 ORPHA:98853 ORPHA:98855 HPO 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 ORPHA:466768 HPO NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774
JBrowse link
G SGCD sarcoglycan delta IAGP ORPHA:219 HPO NCBI chr 5:155,728,636...156,767,788
Ensembl chr 5:155,870,344...156,767,788
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP ORPHA:98853 HPO NCBI chr 6:152,121,687...152,637,395
Ensembl chr 6:152,121,687...152,637,801
JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP ORPHA:98853 HPO NCBI chr14:63,761,904...64,226,449
Ensembl chr14:63,761,899...64,226,433
JBrowse link
G TCAP titin-cap IAGP OMIM:601954 HPO NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554
JBrowse link
G TMEM43 transmembrane protein 43 IAGP ORPHA:98853 HPO NCBI chr 3:14,125,006...14,143,680
Ensembl chr 3:14,125,015...14,143,680
JBrowse link
Proximal upper limb muscle hypertrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C IAGP ORPHA:280365 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G PLEC plectin IAGP ORPHA:254361 HPO NCBI chr 8:143,915,153...143,976,800
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
Scapular muscle atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPN3 calpain 3 IAGP ORPHA:267 HPO NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP OMIM:181405 HPO 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP OMIM:616852 ORPHA:171439 HPO 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 ORPHA:353327 HPO NCBI chr 1:94,974,405...95,072,974
Ensembl chr 1:94,974,405...95,072,951
JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP OMIM:616228 ORPHA:353327 HPO 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 ORPHA:206549 HPO NCBI chr11:22,192,485...22,283,357
Ensembl chr11:21,782,659...22,283,567
JBrowse link
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 IAGP OMIM:278250 HPO NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755
JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP OMIM:615290 HPO NCBI chr 9:92,711,363...92,764,841
Ensembl chr 9:92,711,363...92,764,833
JBrowse link
G BIN1 bridging integrator 1 IAGP OMIM:255200 ORPHA:169186 HPO 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 ORPHA:500 HPO 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 OMIM:614298 HPO NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789
JBrowse link
G CAPN3 calpain 3 IAGP OMIM:253600 OMIM:618129 ORPHA:267 HPO 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 ORPHA:2616 HPO 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 ORPHA:610 HPO NCBI chr 6:75,084,326...75,206,262
Ensembl chr 6:75,084,326...75,206,267
JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP ORPHA:610 HPO 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 ORPHA:610 HPO 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 ORPHA:610 HPO 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 ORPHA:98915 HPO 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 OMIM:616052 ORPHA:352479 HPO 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 OMIM:618870 HPO 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 OMIM:273750 ORPHA:2616 HPO NCBI chr 6:43,037,617...43,053,945
Ensembl chr 6:43,037,617...43,053,943
JBrowse link
G DNM1L dynamin 1 like IAGP ORPHA:98673 HPO NCBI chr12:32,679,296...32,745,650
Ensembl chr12:32,679,200...32,745,650
JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP ORPHA:353327 HPO NCBI chr11:119,096,505...119,101,884
Ensembl chr11:119,096,025...119,108,331
JBrowse link
G DYSF dysferlin IAGP ORPHA:268 HPO NCBI chr 2:71,453,154...71,686,763
Ensembl chr 2:71,453,561...71,686,763
JBrowse link
G EMD emerin IAGP ORPHA:98863 HPO NCBI chr  X:154,379,236...154,381,523
Ensembl chr  X:154,379,273...154,381,574
JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 IAGP OMIM:166780 ORPHA:2792 HPO NCBI chr 8:71,197,433...71,548,104
Ensembl chr 8:71,197,433...71,592,025
JBrowse link
G FBN1 fibrillin 1 IAGP OMIM:616914 HPO 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 OMIM:300695 OMIM:300696 ORPHA:98863 HPO 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: Winged shoulder blade ClinVar PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 More... NCBI chr19:46,746,015...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G FLNA filamin A IAGP OMIM:305620 HPO 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 OMIM:272460 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G FRG1 FSHD region gene 1 IAGP OMIM:158900 HPO NCBI chr 4:189,940,846...189,963,204
Ensembl chr 4:189,940,870...189,963,202
JBrowse link
G GDF11 growth differentiation factor 11 IAGP OMIM:619122 HPO 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 ORPHA:353327 HPO 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 ORPHA:353327 HPO 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 ORPHA:602 HPO NCBI chr 9:36,214,441...36,277,056
Ensembl chr 9:36,214,441...36,277,042
JBrowse link
G KBTBD13 kelch repeat and BTB domain containing 13 IAGP ORPHA:171439 HPO 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 OMIM:170390 HPO 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 ORPHA:171439 HPO 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 ORPHA:98915 HPO NCBI chr 3:49,121,114...49,133,066
Ensembl chr 3:49,121,114...49,133,118
JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP OMIM:617468 HPO NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451
JBrowse link
G LMNA lamin A/C IAGP OMIM:181350 ORPHA:98853 ORPHA:98855 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G MYBPC1 myosin binding protein C1 IAGP OMIM:618524 HPO NCBI chr12:101,594,849...101,695,841
Ensembl chr12:101,568,353...101,686,028
JBrowse link
G MYH2 myosin heavy chain 2 IAGP OMIM:605637 HPO 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 OMIM:608358 ORPHA:437572 HPO NCBI chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G MYPN myopalladin IAGP OMIM:617336 ORPHA:171439 HPO NCBI chr10:68,087,907...68,212,017
Ensembl chr10:68,087,897...68,212,017
JBrowse link
G NEB nebulin IAGP ORPHA:171439 HPO NCBI chr 2:151,485,334...151,734,476
Ensembl chr 2:151,485,336...151,734,487
JBrowse link
G NEFL neurofilament light chain IAGP ORPHA:101085 HPO 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 OMIM:612921 ORPHA:2616 HPO NCBI chr 2:219,549,408...219,571,573
Ensembl chr 2:219,550,728...219,571,859
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP ORPHA:98673 HPO NCBI chr 3:193,593,149...193,697,811
Ensembl chr 3:193,593,144...193,697,811
JBrowse link
G PAX1 paired box 1 IAGP OMIM:615560 ORPHA:2792 HPO NCBI chr20:21,705,664...21,718,481
Ensembl chr20:21,705,659...21,718,481
JBrowse link
G PAX3 paired box 3 IAGP OMIM:148820 HPO NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998
JBrowse link
G POGLUT1 protein O-glucosyltransferase 1 IAGP OMIM:617232 HPO NCBI chr 3:119,468,955...119,494,708
Ensembl chr 3:119,468,963...119,494,708
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ORPHA:254886 HPO 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 ORPHA:206559 HPO NCBI chr14:77,274,956...77,320,885
Ensembl chr14:77,274,956...77,320,883
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP OMIM:151100 ORPHA:500 HPO NCBI chr12:112,418,915...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 IAGP OMIM:617258 HPO NCBI chr12:21,437,630...21,471,250
Ensembl chr12:21,437,615...21,471,250
JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP ORPHA:500 HPO 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 ORPHA:169186 ORPHA:424107 HPO NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
JBrowse link
G SEPTIN9 septin 9 IAGP ORPHA:2901 HPO NCBI chr17:77,281,499...77,500,596
Ensembl chr17:77,280,569...77,500,596
JBrowse link
G SGCA sarcoglycan alpha IAGP ORPHA:62 HPO NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,928
JBrowse link
G SGCB sarcoglycan beta IAGP OMIM:604286 HPO 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 OMIM:601287 ORPHA:219 HPO NCBI chr 5:155,728,636...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)
ORPHA:353
HPO
RGD
PMID:25802879 RGD:13605619 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 ORPHA:99949 HPO NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163
JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP OMIM:158901
ClinVar Annotator: match by term: Scapular winging
HPO
ClinVar
NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017
JBrowse link
G SPEG striated muscle enriched protein kinase IAGP ORPHA:169186 HPO NCBI chr 2:219,434,215...219,493,629
Ensembl chr 2:219,434,843...219,493,629
JBrowse link
G SQSTM1 sequestosome 1 IAGP OMIM:617158 HPO 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 ORPHA:98853 HPO NCBI chr 6:152,121,687...152,637,395
Ensembl chr 6:152,121,687...152,637,801
JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP ORPHA:98853 HPO NCBI chr14:63,761,904...64,226,449
Ensembl chr14:63,761,899...64,226,433
JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP OMIM:615582 HPO NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
JBrowse link
G TK2 thymidine kinase 2 IAGP OMIM:617069 ORPHA:254886 HPO NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544
JBrowse link
G TMEM43 transmembrane protein 43 IAGP ORPHA:98853 HPO NCBI chr 3:14,125,006...14,143,680
Ensembl chr 3:14,125,015...14,143,680
JBrowse link
G TNPO3 transportin 3 IAGP OMIM:608423 HPO NCBI chr 7:128,954,185...129,055,111
Ensembl chr 7:128,954,180...129,055,173
JBrowse link
G TPM2 tropomyosin 2 IAGP OMIM:609285 ORPHA:171439 HPO 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 ORPHA:171439 HPO NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,304...154,194,648
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP OMIM:190350 HPO 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 OMIM:181405 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
G TTN titin IAGP ORPHA:169186 HPO 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 OMIM:167320 ORPHA:329478 ORPHA:435387 HPO 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 OMIM:619216 HPO 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FHL1 four and a half LIM domains 1 IAGP OMIM:300695
ClinVar Annotator: match by term: Myopathy, scapuloperoneal
HPO
ClinVar
PMID:18179888 PMID:18179901 PMID:19181672 PMID:21629301 PMID:25274776 More... 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 OMIM:181430
ClinVar Annotator: match by term: Scapuloperoneal myopathy
HPO
ClinVar
PMID:9536098 PMID:17576681 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
JBrowse link
Shoulder girdle muscle weakness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase IAGP ORPHA:98907 HPO 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 ORPHA:2020 HPO NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
JBrowse link
G AGRN agrin IAGP ORPHA:98913 HPO NCBI chr 1:1,020,102...1,056,119
Ensembl chr 1:1,020,120...1,056,118
JBrowse link
G AK9 adenylate kinase 9 IAGP ORPHA:98913 HPO 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 OMIM:611307 HPO NCBI chr11:22,192,485...22,283,357
Ensembl chr11:21,782,659...22,283,567
JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP ORPHA:363454 HPO NCBI chr 9:92,711,363...92,764,841
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 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP ORPHA:98913 HPO 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 ORPHA:98913 HPO 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 ORPHA:98913 HPO NCBI chr 2:232,526,160...232,537,907
Ensembl chr 2:232,525,993...232,536,667
JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP ORPHA:98913 HPO NCBI chr17:4,897,771...4,905,019
Ensembl chr17:4,897,771...4,934,438
JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP ORPHA:98913 HPO NCBI chr10:69,801,835...69,959,144
Ensembl chr10:69,801,880...69,964,275
JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Shoulder weakness ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:31,119,219...33,339,460
Ensembl chr  X:31,097,677...33,339,609
JBrowse link
G DMPK DM1 protein kinase IAGP ORPHA:273 HPO NCBI chr19:45,769,709...45,782,490
Ensembl chr19:45,769,709...45,782,552
JBrowse link
G DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 IAGP OMIM:603511 HPO 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 ORPHA:98913 HPO NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473
JBrowse link
G DYSF dysferlin IAGP ORPHA:45448 HPO NCBI chr 2:71,453,154...71,686,763
Ensembl chr 2:71,453,561...71,686,763
JBrowse link
G FKRP fukutin related protein IAGP OMIM:606612 OMIM:607155 ORPHA:34515 HPO NCBI chr19:46,746,015...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G FRG1 FSHD region gene 1 IAGP OMIM:158900 HPO NCBI chr 4:189,940,846...189,963,204
Ensembl chr 4:189,940,870...189,963,202
JBrowse link
G GALC galactosylceramidase IAGP ORPHA:206436 HPO NCBI chr14:87,933,014...87,993,665
Ensembl chr14:87,837,820...87,993,665
JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP ORPHA:602 HPO NCBI chr 9:36,214,441...36,277,056
Ensembl chr 9:36,214,441...36,277,042
JBrowse link
G GYG1 glycogenin 1 IAGP ORPHA:263297 HPO NCBI chr 3:148,991,515...149,031,775
Ensembl chr 3:148,991,408...149,031,775
JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP ORPHA:2020 HPO 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 OMIM:609115 HPO 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 ORPHA:2020 HPO NCBI chr12:55,684,568...55,716,037
Ensembl chr12:55,684,568...55,716,404
JBrowse link
G LRP4 LDL receptor related protein 4 IAGP ORPHA:98913 HPO NCBI chr11:46,854,715...46,918,550
Ensembl chr11:46,856,717...46,918,642
JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP ORPHA:2020 HPO NCBI chr 2:173,075,435...173,268,015
Ensembl chr 2:173,075,435...173,268,015
JBrowse link
G MATR3 matrin 3 IAGP OMIM:606070 ORPHA:600 HPO 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 ORPHA:2596 HPO NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742
JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP ORPHA:98913 HPO NCBI chr 9:110,668,189...110,806,633
Ensembl chr 9:110,668,779...110,806,558
JBrowse link
G MYH7 myosin heavy chain 7 IAGP ORPHA:437572 HPO NCBI chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G MYL2 myosin light chain 2 IAGP ORPHA:2020 HPO NCBI chr12:110,910,845...110,920,579
Ensembl chr12:110,910,819...110,921,443
JBrowse link
G MYOT myotilin IAGP ORPHA:266 HPO NCBI chr 5:137,867,282...137,887,851
Ensembl chr 5:137,867,858...137,887,851
JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP ORPHA:98908 HPO NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ORPHA:254892 HPO 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 ORPHA:254892 HPO NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054
JBrowse link
G PSAP prosaposin IAGP ORPHA:206436 HPO 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 ORPHA:98913 HPO 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 ORPHA:254892 HPO 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 ORPHA:98905 HPO 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 ORPHA:98913 HPO NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
JBrowse link
G SELENON selenoprotein N IAGP ORPHA:2020 HPO 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 ORPHA:254892 HPO 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 NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017
JBrowse link
G TNPO3 transportin 3 IAGP OMIM:608423 HPO NCBI chr 7:128,954,185...129,055,111
Ensembl chr 7:128,954,180...129,055,173
JBrowse link
G TPM2 tropomyosin 2 IAGP ORPHA:2020 HPO 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 ORPHA:2020 HPO NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,304...154,194,648
JBrowse link
G TRIM32 tripartite motif containing 32 IAGP OMIM:254110 HPO NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300
JBrowse link
G TTN titin IAGP OMIM:603689 HPO 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 ORPHA:254892 HPO NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
JBrowse link
G VCP valosin containing protein IAGP OMIM:167320 HPO 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP ORPHA:1826 HPO 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 ORPHA:1826 HPO NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,072
JBrowse link
G RBM8A RNA binding motif protein 8A IAGP OMIM:274000 HPO 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGD4 FYVE, RhoGEF and PH domain containing 4 IAGP OMIM:609311 HPO NCBI chr12:32,399,523...32,646,050
Ensembl chr12:32,399,558...32,646,050
JBrowse link
G RPL11 ribosomal protein L11 IAGP OMIM:612562 HPO 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXW11 F-box and WD repeat domain containing 11 IAGP OMIM:618914 HPO 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 OMIM:609311 HPO NCBI chr12:32,399,523...32,646,050
Ensembl chr12:32,399,558...32,646,050
JBrowse link
G FGF10 fibroblast growth factor 10 IAGP OMIM:149730 HPO NCBI chr 5:44,300,247...44,389,706
Ensembl chr 5:44,300,247...44,389,706
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP OMIM:149730 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP OMIM:149730 HPO NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G HOXA13 homeobox A13 IAGP OMIM:140000 HPO NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
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 SALL4 spalt like transcription factor 4 IAGP OMIM:147750 OMIM:607323 HPO 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 OMIM:142900
ClinVar Annotator: match by term: Thenar muscle hypoplasia
HPO
ClinVar
NCBI chr12:114,353,911...114,408,708
Ensembl chr12:114,353,911...114,408,442
JBrowse link
Thenar muscle atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP OMIM:270685 OMIM:619112 ORPHA:139536 HPO 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 OMIM:619161 HPO 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 OMIM:600794 OMIM:601472 ORPHA:139536 HPO NCBI chr 7:30,594,735...30,634,033
Ensembl chr 7:30,580,533...30,634,033
JBrowse link
G NEB nebulin IAGP OMIM:256030 HPO NCBI chr 2:151,485,334...151,734,476
Ensembl chr 2:151,485,336...151,734,487
JBrowse link
G PDK3 pyruvate dehydrogenase kinase 3 IAGP ORPHA:352675 HPO 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 OMIM:612394 HPO NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,218,420
JBrowse link
G REEP1 receptor accessory protein 1 IAGP ORPHA:139536 HPO 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 OMIM:612350 ORPHA:157965 HPO NCBI chr11:47,407,132...47,416,500
Ensembl chr11:47,407,132...47,416,496
JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP OMIM:604360 HPO NCBI chr15:44,562,696...44,663,678
Ensembl chr15:44,554,818...44,663,688
JBrowse link
Thenar muscle weakness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP OMIM:270685 ORPHA:139536 HPO NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
JBrowse link
G GARS1 glycyl-tRNA synthetase 1 IAGP OMIM:600794 OMIM:601472 ORPHA:139536 HPO NCBI chr 7:30,594,735...30,634,033
Ensembl chr 7:30,580,533...30,634,033
JBrowse link
G REEP1 receptor accessory protein 1 IAGP ORPHA:139536 HPO NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083
JBrowse link
Triceps aplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMX1B LIM homeobox transcription factor 1 beta IAGP OMIM:161200 HPO 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADSS1 adenylosuccinate synthase 1 IAGP ORPHA:482601 HPO NCBI chr14:104,724,201...104,747,325
Ensembl chr14:104,724,229...104,747,325
JBrowse link
G AGRN agrin IAGP ORPHA:98913 HPO NCBI chr 1:1,020,102...1,056,119
Ensembl chr 1:1,020,120...1,056,118
JBrowse link
G AK9 adenylate kinase 9 IAGP ORPHA:98913 HPO 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 ORPHA:98913 HPO 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 ORPHA:98913 HPO 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 ORPHA:98913 HPO NCBI chr 2:232,526,160...232,537,907
Ensembl chr 2:232,525,993...232,536,667
JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP ORPHA:98913 HPO NCBI chr17:4,897,771...4,905,019
Ensembl chr17:4,897,771...4,934,438
JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP ORPHA:98913 HPO NCBI chr10:69,801,835...69,959,144
Ensembl chr10:69,801,880...69,964,275
JBrowse link
G DOK7 docking protein 7 IAGP ORPHA:98913 HPO NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473
JBrowse link
G DYSF dysferlin IAGP ORPHA:45448 HPO NCBI chr 2:71,453,154...71,686,763
Ensembl chr 2:71,453,561...71,686,763
JBrowse link
G FBXO38 F-box protein 38 IAGP OMIM:615575 HPO NCBI chr 5:148,383,957...148,442,836
Ensembl chr 5:148,383,935...148,442,836
JBrowse link
G LRP4 LDL receptor related protein 4 IAGP ORPHA:98913 HPO NCBI chr11:46,854,715...46,918,550
Ensembl chr11:46,856,717...46,918,642
JBrowse link
G MFN2 mitofusin 2 IAGP ORPHA:99947 HPO NCBI chr 1:11,980,215...12,013,508
Ensembl chr 1:11,980,181...12,015,211
JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP ORPHA:98913 HPO NCBI chr 9:110,668,189...110,806,633
Ensembl chr 9:110,668,779...110,806,558
JBrowse link
G MYH7 myosin heavy chain 7 IAGP ORPHA:437572 HPO NCBI chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP ORPHA:86812 HPO NCBI chr 9:131,502,902...131,523,803
Ensembl chr 9:131,502,789...131,523,806
JBrowse link
G RAPSN receptor associated protein of the synapse IAGP ORPHA:98913 HPO 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 ORPHA:98913 HPO 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADSS1 adenylosuccinate synthase 1 IAGP ORPHA:482601 HPO NCBI chr14:104,724,201...104,747,325
Ensembl chr14:104,724,229...104,747,325
JBrowse link
G ANO5 anoctamin 5 IAGP ORPHA:206549 HPO NCBI chr11:22,192,485...22,283,357
Ensembl chr11:21,782,659...22,283,567
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP ORPHA:100986 HPO 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 OMIM:601472 HPO 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 ORPHA:99953 HPO NCBI chr10:69,269,991...69,401,882
Ensembl chr10:69,269,984...69,401,884
JBrowse link
G HSPB1 heat shock protein family B (small) member 1 IAGP ORPHA:99940 HPO 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 OMIM:616268 HPO NCBI chr 8:41,929,479...42,051,988
Ensembl chr 8:41,929,479...42,051,994
JBrowse link
G KIF5A kinesin family member 5A IAGP ORPHA:100991 HPO NCBI chr12:57,550,039...57,586,633
Ensembl chr12:57,546,026...57,586,633
JBrowse link
G KY kyphoscoliosis peptidase IAGP ORPHA:496689 HPO NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636
JBrowse link
G MORC2 MORC family CW-type zinc finger 2 IAGP ORPHA:466768 HPO NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774
JBrowse link
G MYH7 myosin heavy chain 7 IAGP ORPHA:437572 HPO NCBI chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G NDRG1 N-myc downstream regulated 1 IAGP ORPHA:99950 HPO 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 OMIM:616924 HPO NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390
JBrowse link
Upper limb hypertonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN11 claudin 11 IAGP OMIM:619328 HPO 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...1,891,117
JBrowse link
G MTPAP mitochondrial poly(A) polymerase IAGP ORPHA:254343 HPO 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 ORPHA:2524 HPO NCBI chr 4:25,120,014...25,160,546
Ensembl chr 4:25,120,014...25,160,550
JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP OMIM:607259 HPO NCBI chr16:89,508,379...89,557,768
Ensembl chr16:89,490,719...89,557,766
JBrowse link
G TSEN15 tRNA splicing endonuclease subunit 15 IAGP ORPHA:2524 HPO 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 ORPHA:2524 HPO NCBI chr 3:12,484,456...12,539,624
Ensembl chr 3:12,484,421...12,541,549
JBrowse link
G TSEN34 tRNA splicing endonuclease subunit 34 IAGP ORPHA:2524 HPO NCBI chr19:54,189,970...54,194,532
Ensembl chr19:54,189,938...54,194,536
JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP ORPHA:2524 HPO 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 ORPHA:319199 HPO NCBI chr 8:17,246,903...17,333,455
Ensembl chr 8:17,246,931...17,302,427
JBrowse link
Upper limb muscle hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SALL4 spalt like transcription factor 4 IAGP OMIM:607323 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
Weakness of long finger extensor muscles term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGRN agrin IAGP ORPHA:98913 HPO NCBI chr 1:1,020,102...1,056,119
Ensembl chr 1:1,020,120...1,056,118
JBrowse link
G AK9 adenylate kinase 9 IAGP ORPHA:98913 HPO 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 ORPHA:98913 HPO 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 ORPHA:98913 HPO 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 ORPHA:98913 HPO NCBI chr 2:232,526,160...232,537,907
Ensembl chr 2:232,525,993...232,536,667
JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP ORPHA:98913 HPO NCBI chr17:4,897,771...4,905,019
Ensembl chr17:4,897,771...4,934,438
JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP ORPHA:98913 HPO NCBI chr10:69,801,835...69,959,144
Ensembl chr10:69,801,880...69,964,275
JBrowse link
G DOK7 docking protein 7 IAGP ORPHA:98913 HPO 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 ORPHA:602 HPO NCBI chr 9:36,214,441...36,277,056
Ensembl chr 9:36,214,441...36,277,042
JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 IAGP ORPHA:324442 HPO 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 ORPHA:98912 HPO 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 ORPHA:98913 HPO NCBI chr11:46,854,715...46,918,550
Ensembl chr11:46,856,717...46,918,642
JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP ORPHA:98913 HPO NCBI chr 9:110,668,189...110,806,633
Ensembl chr 9:110,668,779...110,806,558
JBrowse link
G MYH7 myosin heavy chain 7 IAGP OMIM:160500 HPO NCBI chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G NEB nebulin IAGP ORPHA:399103 HPO NCBI chr 2:151,485,334...151,734,476
Ensembl chr 2:151,485,336...151,734,487
JBrowse link
G RAPSN receptor associated protein of the synapse IAGP ORPHA:98913 HPO 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 ORPHA:98913 HPO NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
JBrowse link
G SQSTM1 sequestosome 1 IAGP ORPHA:603 HPO 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 ORPHA:603 HPO NCBI chr 2:70,209,444...70,248,793
Ensembl chr 2:70,209,444...70,248,660
JBrowse link
Weakness of the intrinsic hand muscles term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGRN agrin IAGP ORPHA:98913 HPO NCBI chr 1:1,020,102...1,056,119
Ensembl chr 1:1,020,120...1,056,118
JBrowse link
G AK9 adenylate kinase 9 IAGP ORPHA:98913 HPO NCBI chr 6:109,492,855...109,691,202
Ensembl chr 6:109,492,855...109,691,217
JBrowse link
G CAV3 caveolin 3 IAGP ORPHA:488650 HPO 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 ORPHA:98913 HPO 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 ORPHA:98913 HPO 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 ORPHA:98913 HPO NCBI chr 2:232,526,160...232,537,907
Ensembl chr 2:232,525,993...232,536,667
JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP ORPHA:98913 HPO NCBI chr17:4,897,771...4,905,019
Ensembl chr17:4,897,771...4,934,438
JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP ORPHA:98913 HPO NCBI chr10:69,801,835...69,959,144
Ensembl chr10:69,801,880...69,964,275
JBrowse link
G DOK7 docking protein 7 IAGP ORPHA:98913 HPO NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473
JBrowse link
G DYSF dysferlin IAGP ORPHA:178400 HPO NCBI chr 2:71,453,154...71,686,763
Ensembl chr 2:71,453,561...71,686,763
JBrowse link
G FBXO38 F-box protein 38 IAGP OMIM:615575 HPO NCBI chr 5:148,383,957...148,442,836
Ensembl chr 5:148,383,935...148,442,836
JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 IAGP ORPHA:324442 HPO 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 ORPHA:399081 HPO 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 ORPHA:98912 HPO 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 ORPHA:98913 HPO NCBI chr11:46,854,715...46,918,550
Ensembl chr11:46,856,717...46,918,642
JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP ORPHA:98913 HPO NCBI chr 9:110,668,189...110,806,633
Ensembl chr 9:110,668,779...110,806,558
JBrowse link
G NEB nebulin IAGP ORPHA:399103 HPO NCBI chr 2:151,485,334...151,734,476
Ensembl chr 2:151,485,336...151,734,487
JBrowse link
G RAPSN receptor associated protein of the synapse IAGP ORPHA:98913 HPO 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 ORPHA:98913 HPO NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
JBrowse link
G STIM1 stromal interaction molecule 1 IAGP OMIM:160565 HPO NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210
JBrowse link
G VCP valosin containing protein IAGP ORPHA:329478 HPO NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14417
    Phenotypic abnormality 14415
      Abnormality of limbs 2270
        Abnormality of the upper limb 1627
          Abnormality of the musculature of the upper limbs 228
            Abnormality of the musculature of the hand + 98
            Abnormality of the musculature of the upper arm + 12
            Abnormality of the shoulder girdle musculature + 126
            Aplasia/Hypoplasia involving the musculature of the upper limbs + 5
            Proximal muscle weakness in upper limbs + 48
            Upper limb amyotrophy + 55
            Upper limb hypertonia 10
            Upper limb muscle hypertrophy + 2
Path 2
Term Annotations click to browse term
  Human phenotype 14417
    Phenotypic abnormality 14415
      Abnormality of the musculoskeletal system 3908
        Abnormality of the musculature 2827
          Abnormal skeletal muscle morphology 1797
            Abnormality of the musculature of the limbs 514
              Abnormality of the musculature of the upper limbs 228
                Abnormality of the musculature of the hand + 98
                Abnormality of the musculature of the upper arm + 12
                Abnormality of the shoulder girdle musculature + 126
                Aplasia/Hypoplasia involving the musculature of the upper limbs + 5
                Proximal muscle weakness in upper limbs + 48
                Upper limb amyotrophy + 55
                Upper limb hypertonia 10
                Upper limb muscle hypertrophy + 2
paths to the root