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: hypertrophic cardiomyopathy 11
Accession: DOID:0110317
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Definition: A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14. (DO)
Synonyms: exact_synonym: CMH11; cardiomyopathy familial hypertrophic 11
primary_id: MESH:C567419
alt_id: OMIM:612098
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Actc1
actin, alpha, cardiac muscle 1
ISO
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:676951 PMID:2255271 PMID:9536098 PMID:9563954 PMID:10330430 PMID:10494087 PMID:10966831 PMID:11052860 PMID:12222827 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16199547 PMID:16267253 PMID:16611632 PMID:17576681 PMID:17611253 PMID:17623677 PMID:17916152 PMID:17947298 PMID:18379140 PMID:18400036 PMID:18403758 PMID:18458017 PMID:18506004 PMID:18519860 PMID:18801786 PMID:19184181 PMID:19467449 PMID:19562689 PMID:19799913 PMID:20497191 PMID:20600154 PMID:20965760 PMID:21297463 PMID:21524215 PMID:21551322 PMID:21622575 PMID:21839045 PMID:22464770 PMID:22555271 PMID:22563033 PMID:22590617 PMID:23054336 PMID:23283745 PMID:24033266 PMID:24461919 PMID:24503780 PMID:24691700 PMID:24736382 PMID:24793351 PMID:25163546 PMID:25239116 PMID:25524337 PMID:25611685 PMID:25741868 PMID:27125413 PMID:27532257 PMID:27561770 PMID:27600940 PMID:28138913 PMID:28356264 PMID:28408708 PMID:28416588 PMID:28492532 PMID:28771489 PMID:28790153 PMID:28798025 PMID:28973083 PMID:29121657 PMID:29440008 PMID:29719515 PMID:29764897 PMID:29907873 PMID:30297972 PMID:30371277 PMID:30471092 PMID:30600190 PMID:30665703 PMID:30685992 PMID:30762279 PMID:30847666 PMID:31246743 PMID:31430208 PMID:31434612 PMID:31481237 PMID:32815737 PMID:32880476 PMID:33019804 PMID:33049292 PMID:33309763 PMID:33500567 PMID:34011823 PMID:34088380 PMID:34495297 PMID:34930662 PMID:34935411 PMID:35026164 PMID:35457283 PMID:35626289 PMID:37477868 More...
NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523
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Gjd2
gap junction protein, delta 2
ISO
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11
ClinVar
PMID:18458017 PMID:27125413 PMID:28492532
NCBI chr 3:100,771,450...100,776,134
Ensembl chr 3:100,772,062...100,775,061
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Lpcat4
lysophosphatidylcholine acyltransferase 4
ISO
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11
ClinVar
PMID:18458017 PMID:27125413 PMID:28492532
NCBI chr 3:99,044,729...99,052,963
Ensembl chr 3:99,044,729...99,052,875
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Nop10
NOP10 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11
ClinVar
PMID:18458017 PMID:27125413 PMID:28492532
NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942
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Nutm1
NUT midline carcinoma, family member 1
ISO
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11
ClinVar
PMID:18458017 PMID:27125413 PMID:28492532
NCBI chr 3:99,053,510...99,064,311
Ensembl chr 3:99,053,510...99,064,311
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Slc12a6
solute carrier family 12, member 6
ISO
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11
ClinVar
PMID:18458017 PMID:27125413 PMID:28492532
NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258
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