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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:hypertrophic cardiomyopathy 12
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Accession:DOID:0110318 term browser browse the term
Definition:A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the CSRP3 gene on chromosome 11p15. (DO)
Synonyms:exact_synonym: CMH12;   cardiomyopathy familial hypertrophic 12
 primary_id: OMIM:612124;   RDO:0009599
For additional species annotation, visit the Alliance of Genome Resources.



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hypertrophic cardiomyopathy 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 OMIM
ClinVar
PMID:9039266 PMID:12507422 PMID:12642359 PMID:14567970 PMID:15781201 More... NCBI chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653
JBrowse link
G Igsf22 immunoglobulin superfamily member 22 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr 1:97,601,938...97,618,144 JBrowse link
G Ldha lactate dehydrogenase A ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr 1:97,371,823...97,381,247
Ensembl chr 1:97,366,021...97,433,472
JBrowse link
G Ldhc lactate dehydrogenase C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr 1:97,385,984...97,403,382
Ensembl chr 1:97,382,379...97,403,378
JBrowse link
G Mrgprx1 MAS related GPR family member X1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr 1:98,401,140...98,403,148
Ensembl chr 1:98,401,538...98,415,284
JBrowse link
G Mrgprx2 MAS related GPR family member X2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr 1:98,116,192...98,135,534 JBrowse link
G Ptpn5 protein tyrosine phosphatase, non-receptor type 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr 1:97,620,638...97,681,186
Ensembl chr 1:97,620,642...97,679,882
JBrowse link
G Spty2d1 SPT2 chromatin protein domain containing 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr 1:97,531,495...97,549,633
Ensembl chr 1:97,531,508...97,549,581
JBrowse link
G Tmem86a transmembrane protein 86A ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr 1:97,595,910...97,600,260
Ensembl chr 1:97,595,842...97,600,260
JBrowse link
G Tsg101 tumor susceptibility 101 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr 1:97,412,689...97,442,589
Ensembl chr 1:97,410,848...97,442,554
JBrowse link
G Uevld UEV and lactate/malate dehyrogenase domains ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr 1:97,454,188...97,486,004
Ensembl chr 1:97,453,946...97,486,000
JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:28492532 NCBI chr 1:98,487,309...98,525,906
Ensembl chr 1:98,487,358...98,525,905
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          familial hypertrophic cardiomyopathy 104
            hypertrophic cardiomyopathy 12 12
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      cardiovascular system disease 4755
        vascular disease 3602
          artery disease 2516
            aortic disease 647
              aortic valve disease 310
                aortic valve stenosis 285
                  subvalvular aortic stenosis 234
                    hypertrophic cardiomyopathy 233
                      familial hypertrophic cardiomyopathy 104
                        hypertrophic cardiomyopathy 12 12
paths to the root