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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:Proximal muscle weakness in upper limbs
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Accession:HP:0008997 term browser browse the term
Definition:A lack of strength of the proximal muscles of the arms.
Synonyms:xref: UMLS:C1866012



show annotations for term's descendants           Sort by:
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 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
Triceps weakness term browser
Symbol Object Name 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

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21529
    Phenotypic abnormality 21519
      Abnormality of limbs 2577
        Abnormality of the musculature of the limbs 649
          Abnormality of the musculature of the upper limbs 280
            Proximal muscle weakness in upper limbs 64
              Triceps weakness 18
Path 2
Term Annotations click to browse term
  Human phenotype 21529
    Phenotypic abnormality 21519
      Abnormality of the musculoskeletal system 4402
        Abnormality of the musculature 3191
          Abnormal muscle physiology 2771
            Muscle weakness 1074
              Limb muscle weakness 356
                Upper limb muscle weakness 148
                  Proximal muscle weakness in upper limbs 64
                    Triceps weakness 18
paths to the root