Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

RGD ID: 1322255
Species: Homo sapiens
RGD Object: Gene
Symbol: DYSF
Name: dysferlin
Acc ID: DOID:0111187
Term: distal myopathy with anterior tibial onset
Definition: A distal myopathy that is characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11198284 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9731526 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
DYSF IAGP 7240710OMIM  
DYSF EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:15535137
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:17698709 PMID:20301480 PMID:25741868 PMID:25868377 PMID:26467025 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:26467025 PMID:27365461 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:18832576 PMID:24239059 PMID:24438169 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30564623
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:11053681 PMID:16010686 PMID:17698709 PMID:18276788 PMID:18832576 PMID:18853459 PMID:20301480 PMID:24488599 PMID:25493284 PMID:25741868 PMID:26467025 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:25741868
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:25741868
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:25741868
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:25741868
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:25741868
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:17698709 PMID:20301480 PMID:22297152 PMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:28492532 PMID:30564623 PMID:32528171
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:14678801 PMID:18276788 PMID:18832576 PMID:18853459 PMID:24488599 PMID:25591676 PMID:25741868 PMID:25868377 PMID:27821570 PMID:28492532 PMID:33610434
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:14678801 PMID:16934466 PMID:17070050 PMID:17994539 PMID:19528035 PMID:21522182 PMID:22194990 PMID:25741868 PMID:26806107 PMID:28492532 PMID:30028523
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:17698709 PMID:20301480 PMID:25741868 PMID:27647186 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:17698709 PMID:20301480 PMID:25741868 PMID:27647186 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:17698709 PMID:20301480 PMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:17070050 PMID:17698709 PMID:18853459 PMID:25591676 PMID:25741868 PMID:25783436 PMID:26467025 PMID:27647186 PMID:28492532 PMID:31475473 PMID:32751317 PMID:33927379
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:16010686 PMID:18853459 PMID:25741868 PMID:25868377 PMID:27666772 PMID:2766772 PMID:28492532 PMID:30919934
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:26467025 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:27647186 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:25741868 PMID:27647186 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:17576681 PMID:25741868 PMID:28492532 PMID:9536098
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:17698709 PMID:20301480 PMID:25741868 PMID:25868377 PMID:27363342 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:28492532 PMID:30564623
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:15469449 PMID:25741868 PMID:28492532 PMID:30564623 PMID:33610434
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:25741868 PMID:26467025 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:16100712 PMID:16199547 PMID:17698709 PMID:20301480 PMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:28403181 PMID:28492532 PMID:31931849 PMID:34559919
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:15469449 PMID:21522182 PMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:16100712 PMID:17994539 PMID:25591676 PMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:17698709 PMID:20301480 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:17070050 PMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:21522182 PMID:25741868 PMID:26077327 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:17698709 PMID:22174839 PMID:25591676 PMID:27066573 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:25741868
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:25741868
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:25741868
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:25741868
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:25741868
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:17698709 PMID:20301480 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:25741868
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:17576681 PMID:21522182 PMID:25741868 PMID:28492532 PMID:33715265 PMID:9536098
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:26467025 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:17698709 PMID:20301480 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:17698709 PMID:20301480 PMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:17698709 PMID:20301480 PMID:27602406 PMID:28492532 PMID:33610434 PMID:33715265
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:17698709 PMID:20301480 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:11198284 PMID:17698709 PMID:18853459 PMID:20301480 PMID:22194990 PMID:25741868 PMID:28492532 PMID:9731526
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:17576681 PMID:20535123 PMID:25741868 PMID:26467025 PMID:28492532 PMID:9536098
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:11468312 PMID:16934466 PMID:20544924 PMID:21816046 PMID:22995991 PMID:24123366 PMID:25741868 PMID:25807536 PMID:26467025 PMID:28492532 PMID:30919934 PMID:9731526
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:11468312 PMID:12796534 PMID:15835269 PMID:18853459 PMID:25591676 PMID:25741868 PMID:27647186 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:16010686 PMID:16087766 PMID:17070050 PMID:17698709 PMID:18853459 PMID:20301480 PMID:20544924 PMID:20558759 PMID:22297152 PMID:24488599 PMID:25741868 PMID:26467025 PMID:26916285 PMID:27066573 PMID:27602406 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:16199547 PMID:17698709 PMID:20301480 PMID:24488599 PMID:25741868 PMID:26467025 PMID:27602406 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:24033266 PMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:24033266 PMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:16199547 PMID:17698709 PMID:20301480 PMID:20544924 PMID:21816046 PMID:24488599 PMID:25741868 PMID:26467025 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:12796534 PMID:14678801 PMID:15469449 PMID:19493611 PMID:24033266 PMID:24838345 PMID:25741868 PMID:26467025 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:24033266 PMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:17698709 PMID:20301480 PMID:25741868 PMID:26000923 PMID:28492532 PMID:32576226 PMID:33610434 PMID:33613410
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:11532985 PMID:12796534 PMID:18276788 PMID:18832576 PMID:18853459 PMID:21816046 PMID:22246893 PMID:23243261 PMID:24488599 PMID:25312915 PMID:25525159 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 PMID:29382405 PMID:30564623 PMID:31589614
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:17698709 PMID:20301480 PMID:20544924 PMID:21484829 PMID:25741868 PMID:26467025 PMID:27602406 PMID:28492532 PMID:29382405
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:16100712 PMID:16891820 PMID:17698709 PMID:18853459 PMID:19528035 PMID:20301480 PMID:23757202 PMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:17512949 PMID:17897828 PMID:21522182 PMID:22046204 PMID:24838345 PMID:25525159 PMID:25741868 PMID:26467025 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:24033266 PMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onsetPMID:14678801 PMID:20535123 PMID:24033266 PMID:24838345 PMID:25741868 PMID:26467025 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:11053681 PMID:14678801 PMID:16010686 PMID:16100712 PMID:17070050 PMID:17698709 PMID:18853459 PMID:19528035 PMID:20301480 PMID:22194990 PMID:23757202 PMID:25741868 PMID:26404900 PMID:26467025 PMID:27447704 PMID:27602406 PMID:27858744 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:24033266 PMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:12410383 PMID:16199547 PMID:17698709 PMID:20301480 PMID:22297152 PMID:24488599 PMID:25312915 PMID:25741868 PMID:26088049 PMID:27066573 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:24033266 PMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:16100712 PMID:16199547 PMID:17698709 PMID:18853459 PMID:20301480 PMID:22297152 PMID:23243261 PMID:25591676 PMID:25741868 PMID:27363342 PMID:27647186 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:25741868 PMID:28492532
DYSF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal myopathy with anterior tibial onsetPMID:16010686 PMID:17698709 PMID:20301480 PMID:25135358 PMID:25741868 PMID:28492532
Go Back to source page   Continue to Ontology report