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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:Laminopathies
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Accession:DOID:9006138 term browser browse the term
Definition:Genetic diseases caused by mutations of the lamin A/C gene (LMNA): dystrophies of skeletal and/or cardiac muscles, and partial lipodystrophies.
Synonyms:exact_synonym: laminopathy
 primary_id: MESH:D000083083
For additional species annotation, visit the Alliance of Genome Resources.



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Laminopathies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Laminopathy ClinVar PMID:2007407 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO OMIM NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
autosomal recessive Emery-Dreifuss muscular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO OMIM NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
Charcot-Marie-Tooth disease type 2B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO OMIM NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
congenital muscular dystrophy due to LMNA mutation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO OMIM NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
Congenital Progeroid Syndrome, Petty Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A24 solute carrier family 25 member 24 ISO OMIM NCBI chr 4:111,580,186...111,632,390
Ensembl chr 4:111,579,200...111,634,271
JBrowse link
dilated cardiomyopathy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:24439875 PMID:25741868 PMID:27532257 PMID:28166811 More... NCBI chr 5:51,536,531...51,673,583
Ensembl chr 5:51,536,526...51,673,583
JBrowse link
G ACTC1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 NCBI chr 1:136,281,119...136,286,551
Ensembl chr 1:136,281,167...136,286,545
JBrowse link
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 NCBI chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,779
JBrowse link
G ANKRD1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:19608031 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 More... NCBI chr14:102,603,777...102,612,857
Ensembl chr14:102,603,777...102,612,839
JBrowse link
G BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar PMID:21353195 PMID:24033266 PMID:25741868 PMID:28436997 PMID:28492532 More... NCBI chr14:129,510,240...129,533,998
Ensembl chr14:129,510,293...129,533,996
JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,103...121,435,424
JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,223...29,181,689
JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:18957847 PMID:23863954 PMID:23911551 PMID:24033266 PMID:25741868 More... NCBI chr 6:114,982,259...115,021,332
Ensembl chr 6:114,916,763...115,021,305
JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:115,400,223...115,453,763
Ensembl chr 6:115,400,252...115,452,473
JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ClinVar PMID:20716751 PMID:23292937 PMID:23861362 PMID:24033266 PMID:24125834 More... NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 NCBI chr  X:124,883,047...124,885,429 JBrowse link
G HAND2 heart and neural crest derivatives expressed 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:26676105 NCBI chr14:16,460,089...16,462,979
Ensembl chr14:16,460,119...16,462,735
JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:14662268 PMID:17097056 PMID:17235623 PMID:17438622 PMID:19377068 More... NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251
JBrowse link
G LMNA lamin A/C ISO OMIM NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:11499718 PMID:11815426 PMID:12110947 PMID:12707239 PMID:12818575 More... NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,539...15,270,104
JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30105547 NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,650,445...75,709,232
JBrowse link
G MYPN myopalladin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:71,283,271...71,388,591
Ensembl chr14:71,298,907...71,394,600
JBrowse link
G NEXN nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:135,315,000...135,382,911
Ensembl chr 6:135,318,754...135,382,699
JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868
JBrowse link
G RBM20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar PMID:16783378 PMID:19712804 PMID:20301718 PMID:20590677 PMID:22004663 More... NCBI chr14:121,058,896...121,269,824 JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:16712702 PMID:18508782 PMID:19716085 PMID:22581653 PMID:23631430 More... NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,338,124...23,438,385
JBrowse link
G SGCD sarcoglycan delta ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25637381 PMID:25741868 NCBI chr16:66,447,982...67,481,709
Ensembl chr16:66,452,416...66,887,924
JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,947,241
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ClinVar PMID:9536098 PMID:17444505 PMID:17576681 PMID:21520333 PMID:22335739 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO OMIM NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
familial partial lipodystrophy type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO OMIM NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
Heart-Hand Syndrome, Slovenian Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO OMIM NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
lethal restrictive dermopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO OMIM NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 ISO OMIM NCBI chr 6:96,008,307...96,057,131
Ensembl chr 6:96,008,455...96,062,951
JBrowse link
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLD1 DNA polymerase delta 1, catalytic subunit ISO OMIM NCBI chr 6:55,247,799...55,272,087
Ensembl chr 6:55,247,861...55,272,166
JBrowse link
Mandibuloacral Dysplasia Progeroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTX2 metaxin 2 ISO OMIM NCBI chr15:82,061,381...82,139,073
Ensembl chr15:82,061,406...82,153,980
JBrowse link
Neonatal Progeroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR3A RNA polymerase III subunit A ISO OMIM NCBI chr14:80,410,143...80,471,740
Ensembl chr14:80,410,147...80,471,700
JBrowse link
Nestor-Guillermo Progeria Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BANF1 BAF nuclear assembly factor 1 ISO OMIM NCBI chr 2:6,333,451...6,335,326 JBrowse link
G EIF1AD eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome ClinVar NCBI chr 2:6,334,882...6,340,125
Ensembl chr 2:6,334,197...6,340,112
JBrowse link
Penttinen-Aula Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDGFRB platelet derived growth factor receptor beta ISO OMIM NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,754...151,192,647
JBrowse link
progeria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK3 ankyrin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27217151 NCBI chr14:63,416,154...63,809,220 JBrowse link
G EEF1E1 eukaryotic translation elongation factor 1 epsilon 1 ISO RGD PMID:20726853 RGD:10401221 NCBI chr 7:5,368,341...5,390,665 JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Hutchinson-Gilford syndrome ClinVar PMID:8797827 PMID:9579555 PMID:20221251 PMID:21228398 PMID:21612988 More... NCBI chr 3:29,266,234...29,306,109
Ensembl chr 3:29,266,236...29,306,116
JBrowse link
G IGF1 insulin like growth factor 1 treatment ISO RGD PMID:20805469 RGD:10003141 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G LMNA lamin A/C ISO OMIM NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
G PYCR1 pyrroline-5-carboxylate reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19648921 NCBI chr12:1,060,028...1,064,808
Ensembl chr12:1,060,568...1,064,809
JBrowse link
G SPRTN SprT-like N-terminal domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25261934 NCBI chr14:59,177,801...59,192,221
Ensembl chr14:59,171,170...59,192,270
JBrowse link
G SUN1 Sad1 and UNC84 domain containing 1 severity ISO RGD PMID:22541428 RGD:10044242 NCBI chr 3:485,980...532,974
Ensembl chr 3:486,020...532,979
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23217256 NCBI chr 6:96,008,307...96,057,131
Ensembl chr 6:96,008,455...96,062,951
JBrowse link
Progeria Syndrome, Childhood-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Hutchinson-gilford progeria syndrome, childhood-onset
ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, childhood-onset
ClinVar PMID:11015599 PMID:11503164 PMID:11792811 PMID:12629077 PMID:12927431 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
Ruijs-Aalfs syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPRTN SprT-like N-terminal domain ISO OMIM NCBI chr14:59,177,801...59,192,221
Ensembl chr14:59,171,170...59,192,270
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13633
    Developmental Disease 10231
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8840
        genetic disease 8391
          Laminopathies 39
            Autosomal Emery-Dreifuss Muscular Dystrophy + 1
            Charcot-Marie-Tooth disease type 2B1 1
            Heart-Hand Syndrome, Slovenian Type 1
            congenital muscular dystrophy due to LMNA mutation 1
            dilated cardiomyopathy 1A 24
            dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 1
            familial partial lipodystrophy type 2 1
            lethal restrictive dermopathy 2
            progeria + 16
paths to the root