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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:dilated cardiomyopathy 1B
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Accession:DOID:0110443 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13. (DO)
Synonyms:exact_synonym: CMD1B;   CMPD1;   FDC1;   familial dilated cardiomyopathy 1;   familial hypokinetic dilated cardiomyopathy
 primary_id: MESH:C536231
 alt_id: OMIM:600884


show annotations for term's descendants           Sort by:
dilated cardiomyopathy 1B term browser
Symbol Object Name 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: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28074886 PMID:28492532 NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356 		JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28492532 NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:14732481 PMID:20981092 PMID:21408211 PMID:24033266 PMID:25741868 More... NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:9536098 PMID:17576681 PMID:21459883 PMID:24033266 PMID:24558114 More... NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:10717012 PMID:11073539 PMID:12620971 PMID:14724127 PMID:19587455 More... NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:7599634 PMID:7849724 PMID:11710958 PMID:19760747 PMID:24033266 More... NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28492532 NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:18639457 PMID:20031616 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:15941723 PMID:20152563 PMID:20716751 PMID:21606396 PMID:21636032 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G Fktn fukutin ISO DNA:insertion, missense mutations:exon:p.R179T (c.536G>C), p.Q358P (c.1073A>C) (human)
ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:32969603 PMID:33048919 PMID:34120883 More... RGD:11576324 NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:27908349 PMID:28492532 PMID:32112656 PMID:33874732 NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844 		JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28492532 NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057 		JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:15668942 PMID:20474083 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:11897440 PMID:12376891 PMID:12467752 PMID:14597414 PMID:15372542 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:2073894 PMID:9048664 PMID:9536098 PMID:9631872 PMID:10521296 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:15998695 PMID:20215591 PMID:21483645 PMID:23299917 PMID:23861362 More... NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:12951062 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:22286171 PMID:23299917 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443 		JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28492532 PMID:32058062 PMID:32814711 PMID:32870709 More... NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:22558107 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:19712804 PMID:20590677 PMID:21483645 PMID:22004663 PMID:23861363 More... NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:26132555 PMID:28492532 PMID:36082968 PMID:36138163 NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL DILATED, 1 | ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:9521325 PMID:11901046 PMID:12106943 PMID:14523039 PMID:15671429 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Sgcd sarcoglycan, delta ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 PMID:28492532 NCBI chr10:31,346,480...32,328,364
Ensembl chr10:31,280,511...31,724,840 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25741868 NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001 		JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:25645515 PMID:25741868 PMID:32576985 NCBI chr10:57,795,845...57,800,363
Ensembl chr10:57,795,382...57,800,363 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:9241277 PMID:11735257 PMID:18006163 PMID:18467357 PMID:18533079 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:15542288 PMID:16199547 PMID:19412328 PMID:20031601 PMID:20215591 More... NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		JBrowse link
G Ttn titin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial		 CTD
ClinVar		 PMID:11788824 PMID:12145747 PMID:17444505 PMID:18948003 PMID:21520333 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial ClinVar PMID:15769782 PMID:16236538 PMID:16712796 PMID:17785437 PMID:23299917 More... NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      cardiovascular system disease 5413
        heart disease 3329
          Cardiomegaly 869
            dilated cardiomyopathy 463
              dilated cardiomyopathy 1B 32
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal dominant disease 6310
                dilated cardiomyopathy 1B 32
paths to the root