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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:distal myopathy
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Accession:DOID:11720 term browser browse the term
Definition:A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands. (DO)
Synonyms:exact_synonym: distal muscle weakness;   distal muscular dystrophies;   distal muscular dystrophy;   distal myopathy, Markesbery Griggs type;   distal myopathy, early-onset, autosomal dominant;   distal myopathy, late hereditary
 primary_id: MESH:D049310
 xref: ICD10CM:G71.09;   MIM:PS160500;   NCI:C84675;   ORDO:399086;   ORDO:399096;   ORDO:5448;   ORDO:63273
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
distal myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 ISO ClinVar Annotator: match by term: Distal muscle weakness ClinVar PMID:22499103 PMID:25741868 PMID:25891276 PMID:26886200 PMID:27447704 More... NCBI chr 2:37,171,402...37,256,204
Ensembl chr 2:37,171,412...37,255,489 		JBrowse link
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Distal myopathy ClinVar PMID:8114789 PMID:22628388 PMID:23664116 PMID:23664119 PMID:23664120 More... NCBI chr 3:42,393,270...42,456,821
Ensembl chr 3:42,393,277...42,456,782 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Distal muscle weakness ClinVar PMID:12787275 PMID:22266148 PMID:25741868 PMID:28492532 PMID:28830826 More... NCBI chr13:31,262,750...31,295,112 JBrowse link
G DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 ISO MouseDO NCBI chr 6:135,243,927...135,281,376
Ensembl chr 6:135,243,937...135,281,370 		JBrowse link
G DYSF dysferlin ISO OMIM:160300 | OMIM:160500 | OMIM:254130 | OMIM:606768 | OMIM:607569 | OMIM:610099 | OMIM:613318 | OMIM:613319 | OMIM:614065 | OMIM:614321 MouseDO NCBI chr 3:71,020,143...71,237,658
Ensembl chr 3:71,020,144...71,246,967 		JBrowse link
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: Distal muscle weakness ClinVar PMID:12325071 PMID:15241803 PMID:25741868 PMID:28492532 NCBI chr  X:57,241,990...57,249,496
Ensembl chr  X:57,242,045...57,249,885 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Distal muscle weakness ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr 2:142,387,563...142,401,232
Ensembl chr 2:142,385,872...142,401,208 		JBrowse link
G HSPB8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Distal myopathy ClinVar PMID:25741868 PMID:26976520 PMID:28501893 PMID:29029362 NCBI chr14:33,626,125...33,639,824
Ensembl chr14:33,626,120...33,640,792 		JBrowse link
G LDB3 LIM domain binding 3 ISO DNA:missense mutation:exon:p.A165V (human) RGD PMID:17337483 RGD:11068981 NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251 		JBrowse link
G LOC100736765 myosin-6 ISO ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY ClinVar PMID:25741868 NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644 		JBrowse link
G MATR3 matrin 3 ISO ClinVar Annotator: match by term: Distal myopathy ClinVar NCBI chr 2:141,179,515...141,230,259
Ensembl chr 2:141,179,566...141,231,015 		JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Distal muscle weakness ClinVar PMID:15064763 PMID:15549395 PMID:16437557 PMID:16714318 PMID:16835246 More... NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438 		JBrowse link
G MIR208B microRNA mir-208b ISO ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY ClinVar PMID:25741868 PMID:27247418 PMID:28492532 PMID:29121657 PMID:31638223 NCBI chr 7:75,667,786...75,667,865
Ensembl chr 7:75,667,786...75,667,865 		JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY ClinVar PMID:7688964 PMID:8644725 PMID:10545037 PMID:10581375 PMID:11437164 More... NCBI chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY
ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY
ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY
ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY		 ClinVar PMID:177788 PMID:564455 PMID:737223 PMID:901918 PMID:1052196 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		JBrowse link
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Distal muscle weakness ClinVar PMID:2288874 PMID:12481988 PMID:15111691 PMID:16452125 PMID:18023247 More... NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY
ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY
ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY		 ClinVar PMID:1745277 PMID:9536098 PMID:10053013 PMID:10462489 PMID:11717165 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
amyotrophic lateral sclerosis type 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MATR3 matrin 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Myopathy, distal, 2 OMIM
ClinVar		 PMID:9536098 PMID:9837826 PMID:17576681 PMID:19344878 PMID:24686783 More... NCBI chr 2:141,179,515...141,230,259
Ensembl chr 2:141,179,566...141,231,015 		JBrowse link
distal myopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100736765 myosin-6 ISO ClinVar Annotator: match by term: Laing early-onset distal myopathy | ClinVar Annotator: match by term: Myopathy, distal, 1 ClinVar PMID:25741868 NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644 		JBrowse link
G MIR208B microRNA mir-208b ISO ClinVar Annotator: match by term: Laing early-onset distal myopathy ClinVar PMID:25741868 PMID:27247418 PMID:28492532 PMID:29121657 PMID:31638223 NCBI chr 7:75,667,786...75,667,865
Ensembl chr 7:75,667,786...75,667,865 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP
ISO		 Tremor, high-frequency
ClinVar Annotator: match by term: Laing early-onset distal myopathy | ClinVar Annotator: match by term: Myopathy, distal, 1		 OMIA
ClinVar
OMIM		 PMID:177788 PMID:564455 PMID:737223 PMID:901918 PMID:1052196 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		JBrowse link
distal myopathy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Myopathy, distal, 3 OMIM
ClinVar		 PMID:12847162 PMID:34722876 NCBI chr 5:19,485,033...19,491,418
Ensembl chr 5:19,485,096...19,491,417 		JBrowse link
distal myopathy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement ClinVar PMID:25741868 NCBI chr13:136,965,746...137,133,795
Ensembl chr13:136,972,801...137,135,347 		JBrowse link
G FLNC filamin C ISO ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement | ClinVar Annotator: match by term: Myopathy, distal, 4 | ClinVar Annotator: match by term: WILLIAMS DISTAL MYOPATHY OMIM
ClinVar		 PMID:2781633 PMID:9536098 PMID:15824355 PMID:15929027 PMID:16199547 More... NCBI chr18:19,759,734...19,787,616
Ensembl chr18:19,759,740...19,787,618 		JBrowse link
G FRMD1 FERM domain containing 1 ISO ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement ClinVar PMID:25741868 NCBI chr 1:1,507,123...1,521,669
Ensembl chr 1:1,507,627...1,521,666 		JBrowse link
Distal Myopathy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADSS1 adenylosuccinate synthase 1 ISO ClinVar Annotator: match by term: ADSS1-related condition | ClinVar Annotator: match by term: Myopathy, distal, 5 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:26506222 PMID:27868399 PMID:28268051 More...
Distal Myopathy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:14567970 PMID:17576681 PMID:20022194 PMID:20474083 More... NCBI chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,778 		JBrowse link
Distal Myopathy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMPX small muscle protein X-linked ISO ClinVar Annotator: match by term: Myopathy, distal, 7, adult-onset, X-linked OMIM
ClinVar		 PMID:28492532 PMID:33974137 NCBI chr  X:17,889,030...17,938,206
Ensembl chr  X:17,889,030...17,938,293 		JBrowse link
distal myopathy Tateyama type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Distal myopathy, Tateyama type OMIM
ClinVar		 PMID:09536092 PMID:9536098 PMID:10227634 PMID:10746614 PMID:11251997 More... NCBI chr13:65,117,868...65,130,886
Ensembl chr13:65,117,795...65,131,273 		JBrowse link
G OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Distal myopathy, Tateyama type ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:12666119 PMID:15580566 More... NCBI chr13:65,134,055...65,155,543
Ensembl chr13:65,134,057...65,153,487 		JBrowse link
G SSUH2 ssu-2 homolog ISO ClinVar Annotator: match by term: Distal myopathy, Tateyama type ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chr13:65,041,193...65,066,367
Ensembl chr13:65,039,719...65,066,369 		JBrowse link
distal myopathy with anterior tibial onset term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYSF dysferlin ISO ClinVar Annotator: match by term: Distal myopathy with anterior tibial onset OMIM
ClinVar		 PMID:2764718 PMID:2766772 PMID:9536098 PMID:9731526 PMID:11053681 More... NCBI chr 3:71,020,143...71,237,658
Ensembl chr 3:71,020,144...71,246,967 		JBrowse link
distal myopathy with rimmed vacuoles term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH OR WITHOUT RIMMED VACUOLES ClinVar PMID:9536098 PMID:11528398 PMID:12473753 PMID:12473780 PMID:12497639 More... NCBI chr 1:236,998,754...237,065,819
Ensembl chr 1:236,998,757...237,065,767 		JBrowse link
G SQSTM1 sequestosome 1 ISO ClinVar Annotator: match by term: Myopathy, distal, with rimmed vacuoles OMIM
ClinVar		 PMID:12374763 PMID:15176995 PMID:16199547 PMID:17129171 PMID:17181397 More... NCBI chr 2:78,752,768...78,763,998
Ensembl chr 2:78,752,771...78,763,938 		JBrowse link
GNE myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:114,982,259...115,021,332
Ensembl chr 6:114,980,601...115,021,305 		JBrowse link
G ENG endoglin ISO ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing ClinVar PMID:15266205 PMID:17786384 PMID:22022569 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: GNE myopathy | ClinVar Annotator: match by term: Inclusion body myopathy 2 | ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing OMIM
ClinVar		 PMID:2402797 PMID:2473753 PMID:2808337 PMID:5182749 PMID:9536098 More... NCBI chr 1:236,998,754...237,065,819
Ensembl chr 1:236,998,757...237,065,767 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		JBrowse link
G SQSTM1 sequestosome 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:78,752,768...78,763,998
Ensembl chr 2:78,752,771...78,763,938 		JBrowse link
Miyoshi muscular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 ISO ClinVar Annotator: match by term: Miyoshi myopathy ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:24033266 PMID:25741868 More... NCBI chr 2:37,171,402...37,256,204
Ensembl chr 2:37,171,412...37,255,489 		JBrowse link
G DYSF dysferlin ISO ClinVar Annotator: match by term: Miyoshi muscular dystrophy | ClinVar Annotator: match by term: Miyoshi myopathy | ClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessive ClinVar PMID:12796534 PMID:14678801 PMID:15469449 PMID:17512949 PMID:17897828 More... NCBI chr 3:71,020,143...71,237,658
Ensembl chr 3:71,020,144...71,246,967 		JBrowse link
Miyoshi muscular dystrophy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYSF dysferlin ISO ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 OMIM
ClinVar		 PMID:2606004 PMID:2764718 PMID:2766772 PMID:8808603 PMID:9536098 More... NCBI chr 3:71,020,143...71,237,658
Ensembl chr 3:71,020,144...71,246,967 		JBrowse link
Miyoshi muscular dystrophy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 ISO ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3 | ClinVar Annotator: match by term: Miyoshi myopathy 3 OMIM
ClinVar		 PMID:9673985 PMID:17008331 PMID:17132147 PMID:18414213 PMID:20096397 More... NCBI chr 2:37,171,402...37,256,204
Ensembl chr 2:37,171,412...37,255,489 		JBrowse link
G TNNI3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3 ClinVar PMID:3144325 PMID:9241277 PMID:11735257 PMID:15607392 PMID:20641121 More... NCBI chr 6:59,366,828...59,377,490
Ensembl chr 6:59,371,080...59,377,734
Ensembl chr 6:59,371,080...59,377,734 		JBrowse link
myofibrillar myopathy 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTN titin ISO ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure		 OMIM
ClinVar		 PMID:1745277 PMID:9536098 PMID:10053013 PMID:10462489 PMID:11310621 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
spinal muscular atrophy with progressive myoclonic epilepsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASAH1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar Annotator: match by term: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY | ClinVar Annotator: match by term: Spinal muscular atrophy with progressive myoclonic epilepsy OMIM
ClinVar		 PMID:16199547 PMID:22703880 PMID:24033266 PMID:24164096 PMID:24355074 More... NCBI chr17:5,712,048...5,749,811
Ensembl chr17:5,712,058...5,758,821 		JBrowse link
tibial muscular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTN titin ISO ClinVar Annotator: match by term: Tibial muscular dystrophy | ClinVar Annotator: match by term: Tibial muscular dystrophy, tardive | ClinVar Annotator: match by term: UDD Myopathy | ClinVar Annotator: match by term: Udd Distal Myopathy
ClinVar Annotator: match by term: Tibial muscular dystrophy | ClinVar Annotator: match by term: UDD Myopathy | ClinVar Annotator: match by term: Udd Distal Myopathy		 OMIM
ClinVar		 PMID:1745277 PMID:9536098 PMID:10053013 PMID:10462489 PMID:11717165 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
Welander Distal Myopathy, Swedish Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TIA1 TIA1 cytotoxic granule associated RNA binding protein ISO ClinVar Annotator: match by term: Welander distal myopathy OMIM
ClinVar		 PMID:9536098 PMID:10482271 PMID:16199547 PMID:17576681 PMID:23348830 More... NCBI chr 3:72,240,535...72,281,811
Ensembl chr 3:72,240,600...72,277,296 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15436
    disease of anatomical entity 15105
      musculoskeletal system disease 7847
        muscular disease 2180
          muscle tissue disease 1330
            myopathy 1024
              muscular dystrophy 643
                distal myopathy 35
                  Distal Myopathy 5 1
                  Distal Myopathy 6 1
                  Distal Myopathy 7 1
                  GNE myopathy 5
                  Miyoshi muscular dystrophy + 3
                  Welander Distal Myopathy, Swedish Type 1
                  amyotrophic lateral sclerosis type 21 1
                  distal myopathy 1 3
                  distal myopathy 3 1
                  distal myopathy 4 3
                  distal myopathy Tateyama type 3
                  distal myopathy with anterior tibial onset 1
                  distal myopathy with rimmed vacuoles 2
                  infantile-onset distal myopathy 0
                  myofibrillar myopathy 9 1
                  spinal muscular atrophy with progressive myoclonic epilepsy 1
                  tibial muscular dystrophy 1
Path 2
Term Annotations click to browse term
  disease 15436
    disease of anatomical entity 15105
      nervous system disease 13259
        peripheral nervous system disease 4272
          neuropathy 4084
            neuromuscular disease 3148
              muscular disease 2180
                muscle tissue disease 1330
                  myopathy 1024
                    muscular dystrophy 643
                      distal myopathy 35
                        Distal Myopathy 5 1
                        Distal Myopathy 6 1
                        Distal Myopathy 7 1
                        GNE myopathy 5
                        Miyoshi muscular dystrophy + 3
                        Welander Distal Myopathy, Swedish Type 1
                        amyotrophic lateral sclerosis type 21 1
                        distal myopathy 1 3
                        distal myopathy 3 1
                        distal myopathy 4 3
                        distal myopathy Tateyama type 3
                        distal myopathy with anterior tibial onset 1
                        distal myopathy with rimmed vacuoles 2
                        infantile-onset distal myopathy 0
                        myofibrillar myopathy 9 1
                        spinal muscular atrophy with progressive myoclonic epilepsy 1
                        tibial muscular dystrophy 1
paths to the root