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GENE - TERM ANNOTATION REPORT

RGD ID: 732790
Species: Homo sapiens
RGD Object: Gene
Symbol: LMNA
Name: lamin A/C
Acc ID: DOID:0110640
Term: congenital muscular dystrophy due to LMNA mutation
Definition: A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15148145 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/18551513 "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)
LMNA IAGP 12791283RGDassociated with Dropped Head Syndromes;DNA:missense mutations:cds:p.N39S, p.R249W, p.E358K (human) 
LMNA IAGP 7240710OMIM  
LMNA EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:25741868 PMID:25741916 PMID:26733286 PMID:28492532 PMID:29620724
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:17377071 PMID:18414213 PMID:18549403 PMID:19638735 PMID:24001739 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:11503164 PMID:12629077 PMID:12927431 PMID:14615128 PMID:16174718 PMID:25741868 PMID:262236 PMID:27506821 PMID:27884249 PMID:28492532 PMID:31980526 PMID:32727917 PMID:34999423
LMNA IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation | ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:25741868 PMID:28492532
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:11102973 PMID:17377071 PMID:22326558 PMID:23853504 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29237675 PMID:29952368 PMID:32818388 PMID:33407844
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:25741868 PMID:28082330 PMID:28492532 PMID:28663758 PMID:29773157 PMID:31383942 PMID:35449878 PMID:35772917 PMID:36267857 PMID:36646731 PMID:37246508
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:23183350 PMID:25741868 PMID:27506821 PMID:28492532 PMID:28878402 PMID:29237675 PMID:29892087 PMID:29943882 PMID:30007954 PMID:30420677 PMID:32376792 PMID:32880476 PMID:34495297 PMID:34768595
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:22491857 PMID:26098624 PMID:27876398 PMID:28492532
LMNA IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation | ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:24033266 PMID:25741868 PMID:28492532
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:11102973 PMID:27854218 PMID:28492532 PMID:29237675 PMID:29952368 PMID:32818388 PMID:33407844
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:25741868 PMID:27813223 PMID:28492532 PMID:28531892 PMID:28790152 PMID:29255176 PMID:29693488 PMID:30326651 PMID:31744510 PMID:32880476
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:12628721 PMID:17334235 PMID:23702046 PMID:25741868 PMID:28492532 PMID:30847666
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:17576681 PMID:25741868 PMID:28492532 PMID:28679633 PMID:30402260 PMID:9536098
LMNA IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation 
LMNA IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:11102973 PMID:29237675 PMID:29952368 PMID:32818388 PMID:33407844
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:25741868 PMID:26467025 PMID:28492532 PMID:28663758 PMID:31744510 PMID:32009526
LMNA IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation | ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:25741868
LMNA IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:25741916
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:22491857 PMID:25741868 PMID:28492532
LMNA IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:28492532
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:11102973 PMID:25741868 PMID:29237675 PMID:29952368 PMID:32818388 PMID:33407844
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:10939567 PMID:20848652 PMID:23183350 PMID:25741868 PMID:28492532 PMID:31434876
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:10939567 PMID:12467752 PMID:25741868 PMID:28492532 PMID:28688748
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:25741868 PMID:28492532 PMID:30287275 PMID:35449878
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:25741868 PMID:28492532 PMID:28688748
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:11897440 PMID:25741868 PMID:28492532 PMID:31383942 PMID:34495297 PMID:35026164
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:25741868 PMID:28492532 PMID:31383942
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:25741868 PMID:27650965 PMID:28492532 PMID:31383942 PMID:32376792
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:25741868 PMID:28492532 PMID:28688748 PMID:32571898
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:25741868 PMID:28492532 PMID:30429050
LMNA IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation | ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:25741868 PMID:28492532 PMID:28663758 PMID:31383942
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:25741868 PMID:28492532 PMID:29237675
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:25617006 PMID:25741868 PMID:28492532 PMID:28679633 PMID:30402260
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:19882644 PMID:25741868 PMID:28492532 PMID:32571898 PMID:34862408
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:10739751 PMID:11231979 PMID:20130076 PMID:22700598 PMID:23783098 PMID:25741868 PMID:28492532 PMID:28641778 PMID:32012908
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:25741868 PMID:27884249 PMID:28492532 PMID:31383942
LMNA IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:25326635 PMID:25741868
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:25741868 PMID:26383259 PMID:26467025 PMID:28492532 PMID:28663758 PMID:30402260 PMID:31383942
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:11102973 PMID:25741868 PMID:26392352 PMID:26467025 PMID:28492532 PMID:29237675 PMID:29952368 PMID:32818388 PMID:33407844
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:10080180 PMID:14749366 PMID:18396274 PMID:20980393 PMID:22326558 PMID:24642510 PMID:25741868 PMID:28492532
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:18585512 PMID:19638735 PMID:25741868 PMID:26084686 PMID:28492532 PMID:28663758 PMID:28679633
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:12628721 PMID:17334235 PMID:23702046 PMID:25741868 PMID:2733290 PMID:27332903 PMID:28492532 PMID:32376792
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:23349452 PMID:25741868 PMID:28492532
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:11102973 PMID:25741868 PMID:28492532 PMID:29237675 PMID:29952368 PMID:32818388 PMID:33407844
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:25741868 PMID:28416588 PMID:28492532
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:18551513 PMID:25741868 PMID:28492532
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:25741868 PMID:26098624 PMID:28492532
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:21520333 PMID:25741868 PMID:28492532
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:10080180 PMID:10739764 PMID:10939567 PMID:11503164 PMID:11731280 PMID:14684700 PMID:14749366 PMID:15372542 PMID:17967828 PMID:18396274 PMID:18414213 PMID:18551515 PMID:18646565 PMID:19070492 PMID:20848652 PMID:20980393 PMID:21173262 PMID:22326558 PMID:23217256 PMID:23990565 PMID:24375749 PMID:24623722 PMID:24642510 PMID:25210889 PMID:25343322 PMID:25741868 PMID:25948554 PMID:25987458 PMID:26467025 PMID:26575312 PMID:27854218 PMID:28492532 PMID:29057633
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:10587585 PMID:10655060 PMID:10739751 PMID:10810087 PMID:10868844 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11136544 PMID:11792809 PMID:12524233 PMID:12647844 PMID:12927424 PMID:16181372 PMID:16364671 PMID:16415042 PMID:17893350 PMID:18728124 PMID:19011997 PMID:19201734 PMID:19418082 PMID:19859838 PMID:2007407 PMID:20130076 PMID:20625965 PMID:22700598 PMID:23313286 PMID:23427149 PMID:23853504 PMID:24033266 PMID:24375749 PMID:25637381 PMID:25741868 PMID:26662654 PMID:28492532 PMID:28641778 PMID:28679633 PMID:30165155 PMID:30287275 PMID:31194872 PMID:31447099 PMID:31836692 PMID:32041611 PMID:33803652 PMID:34340952 PMID:34865644 PMID:35291351 PMID:37679847
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:10080180 PMID:12075506 PMID:12768443 PMID:14627682 PMID:18796515 PMID:19084400 PMID:19432833 PMID:20980393 PMID:23497705 PMID:25286833 PMID:25741868 PMID:25741916 PMID:25982065 PMID:27199538 PMID:28492532 PMID:35449878
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:10587585 PMID:10655060 PMID:10739751 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11342468 PMID:11344241 PMID:12524233 PMID:12669268 PMID:14510863 PMID:14749366 PMID:15531479 PMID:16181372 PMID:16459536 PMID:17524034 PMID:18396274 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19418082 PMID:19574635 PMID:19622949 PMID:19859838 PMID:20130076 PMID:20625965 PMID:21479595 PMID:21945321 PMID:21989830 PMID:22276265 PMID:23427149 PMID:23846499 PMID:24002959 PMID:24108105 PMID:24375749 PMID:25524705 PMID:25741868 PMID:25885670 PMID:26027246 PMID:26662654 PMID:26724531 PMID:26756202 PMID:26976018 PMID:27504462 PMID:27841971 PMID:28492532 PMID:28641778 PMID:28751304 PMID:29438482 PMID:9500556
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:10655060 PMID:14597414 PMID:16440304 PMID:17274801 PMID:29040816
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:15622532 PMID:17881656
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:12628721 PMID:15475483 PMID:16278265 PMID:16809772 PMID:17250669 PMID:17377071 PMID:17536044 PMID:18926329 PMID:23062543 PMID:24024053 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26467025 PMID:27707468 PMID:28341588 PMID:28416588 PMID:28492532 PMID:28663758 PMID:28874324 PMID:29693488 PMID:30420677 PMID:31383942 PMID:31514951 PMID:31525256 PMID:32004434 PMID:32616434 PMID:32746448 PMID:33258288 PMID:33916827 PMID:35026164 PMID:35535697
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:18551513
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:18551513 PMID:20848652 PMID:20886652 PMID:21632249 PMID:24508248 PMID:24656463 PMID:24806962 PMID:25741868 PMID:26098624 PMID:26467025 PMID:28492532 PMID:29893365
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:10939567 PMID:11792809 PMID:15148145 PMID:18414213 PMID:18551513 PMID:20980393 PMID:21520333 PMID:21632249 PMID:23183350 PMID:23427149 PMID:24508248 PMID:25741868 PMID:28492532 PMID:30055862 PMID:32571898 PMID:34008892
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:10739751 PMID:11102973 PMID:11180602 PMID:15060110 PMID:15770669 PMID:16585054 PMID:18478590 PMID:18795223 PMID:18926329 PMID:19875404 PMID:20497714 PMID:20848652 PMID:21831885 PMID:21980471 PMID:22177269 PMID:22199124 PMID:22276265 PMID:22355414 PMID:22526018 PMID:22570643 PMID:23349452 PMID:23861362 PMID:24033266 PMID:24503780 PMID:24623722 PMID:25025039 PMID:2526018 PMID:25448463 PMID:25637381 PMID:25741868 PMID:25873806 PMID:26467025 PMID:26498160 PMID:27000522 PMID:27153395 PMID:27447704 PMID:27896284 PMID:28087566 PMID:28492532 PMID:28663758 PMID:28701371 PMID:28807990 PMID:30420677 PMID:30954027 PMID:31019283 PMID:31744510
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:12920062 PMID:18414213 PMID:18795223 PMID:19318026 PMID:19424285 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:11102973 PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29237675 PMID:29952368 PMID:32818388 PMID:33407844
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:10580070 PMID:11561226 PMID:18585512 PMID:18606848 PMID:18795223 PMID:20160190 PMID:20301717 PMID:22464770 PMID:23427149 PMID:23582089 PMID:24033266 PMID:25741868 PMID:27374873 PMID:28492532 PMID:31514951 PMID:31983221 PMID:32455078
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:22224630 PMID:22266370 PMID:22464770 PMID:23183350 PMID:23853504 PMID:24033266 PMID:24503780 PMID:24846508 PMID:25741868 PMID:27532257 PMID:27585670 PMID:27723096 PMID:28492532 PMID:29149195 PMID:29237675 PMID:30165862 PMID:30528549 PMID:30847666 PMID:30871747 PMID:31303467 PMID:31829210 PMID:34808346
LMNA IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation | ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:11102973 PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29237675 PMID:29952368 PMID:32818388 PMID:33407844
LMNA IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:11102973 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29237675 PMID:29952368 PMID:32818388 PMID:33407844
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:24033266 PMID:25741868 PMID:26467025 PMID:26602028 PMID:28492532
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:10999845 PMID:11078466 PMID:22700598 PMID:24033266 PMID:24623722 PMID:25741868 PMID:28492532 PMID:28679633 PMID:31194872 PMID:33502018 PMID:36397776
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:21875900 PMID:24033266 PMID:25741868 PMID:28492532
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:12920062 PMID:15140538 PMID:18414213 PMID:19318026 PMID:19424285 PMID:19680556 PMID:20848652 PMID:24033266 PMID:24055113 PMID:25214167 PMID:25637381 PMID:25741868 PMID:26467025 PMID:28492532
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:23183350 PMID:23328570 PMID:2338570 PMID:24033266 PMID:24503780 PMID:24768879 PMID:25741868 PMID:26183555 PMID:26220970 PMID:26752647 PMID:2753225 PMID:27532257 PMID:28492532 PMID:28663758 PMID:30402260 PMID:30564623 PMID:31476771 PMID:34935411
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:15475483 PMID:15998779 PMID:18414213 PMID:24033266 PMID:24721642 PMID:25741868 PMID:26467025 PMID:27896052 PMID:28492532 PMID:28785654
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:11102973 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29237675 PMID:29952368 PMID:32041611 PMID:32818388 PMID:33407844
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:18414213 PMID:19318026 PMID:24033266 PMID:24721642 PMID:25741868 PMID:28492532
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:16715312 PMID:17987279 PMID:18182166 PMID:18585512 PMID:18926329 PMID:19875404 PMID:21840938 PMID:24001739 PMID:24033266 PMID:24058181 PMID:24503780 PMID:25741868 PMID:26899768 PMID:27421120 PMID:27532257 PMID:28492532 PMID:31977013 PMID:31983221
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:10739764 PMID:14659775 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29693488 PMID:31383942 PMID:31476771
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:10814726 PMID:12032588 PMID:12649505 PMID:12920062 PMID:15678000 PMID:15832002 PMID:16386954 PMID:16407522 PMID:17136397 PMID:18035086 PMID:18646565 PMID:18926329 PMID:20576434 PMID:21632249 PMID:21840938 PMID:23183350 PMID:23349452 PMID:23360689 PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 PMID:28759816 PMID:28987496 PMID:30847666 PMID:32528171 PMID:32880476 PMID:34638534
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:19427440 PMID:25741868 PMID:28492532
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:17711925 PMID:25741868 PMID:28492532
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:19427440 PMID:23977161 PMID:24623722 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30402260
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:16199547 PMID:18035086 PMID:18585512 PMID:18926329 PMID:21846512 PMID:22326558 PMID:26688388 PMID:27813223 PMID:28492532 PMID:31383942
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:14684700 PMID:18414213 PMID:20376791 PMID:20848652 PMID:25741868 PMID:26165385 PMID:28492532
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:12057196 PMID:19589617 PMID:21535365 PMID:24033266 PMID:24375749 PMID:24623722 PMID:25741868 PMID:28492532
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:15298354 PMID:24623722 PMID:25741868 PMID:28492532 PMID:30418556 PMID:32193531 PMID:36397776
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:16671095 PMID:18585512 PMID:20160190 PMID:23582089 PMID:25525159 PMID:25741868 PMID:28492532 PMID:29693488 PMID:30012837
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:20307303 PMID:20848652 PMID:22326558 PMID:23299917 PMID:23328570 PMID:25741868 PMID:28492532 PMID:33963534 PMID:34768595
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutationPMID:12467752 PMID:15372542 PMID:15961312 PMID:17377071 PMID:18551513 PMID:20980393 PMID:21632249 PMID:21653823 PMID:22090424 PMID:23427149 PMID:24806962 PMID:26098624 PMID:27600705 PMID:28492532
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:23349452 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30847666 PMID:31383942 PMID:32880476
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:19589617 PMID:22918509 PMID:23183350 PMID:24033266 PMID:25741868 PMID:26332594 PMID:27498076 PMID:27529282 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28663758 PMID:29253866 PMID:29557732 PMID:29791652 PMID:30420677 PMID:30847666 PMID:31383942 PMID:31857427 PMID:32041611 PMID:32616434 PMID:32685188 PMID:33713793 PMID:33803191 PMID:35449878
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:18585512 PMID:19638735 PMID:24033266 PMID:25741868 PMID:26084686 PMID:28492532 PMID:28688748
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-relatedPMID:25741868 PMID:28492532 PMID:28679633 PMID:34768595 PMID:34788595
LMNA ISSLmna (Mus musculus)13592920MouseDOOMIM:613205 
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