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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:Hereditary Leiomyomatosis and Renal Cell Cancer
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Accession:DOID:9005510 term browser browse the term
Synonyms:exact_synonym: Cutaneous leiomyomata with uterine leiomyomata;   HLRCC;   LRCC;   Leiomyoma, hereditary multiple, of skin;   MCL;   MCUL1;   MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA;   Multiple cutaneous and uterine leiomyomata 1;   Multiple cutaneous and uterine leiomyomatosis;   Reed's syndrome;   multiple cutaneous leiomyoma
 primary_id: MESH:C535516
 alt_id: OMIM:150800
 xref: ORDO:523
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Hereditary Leiomyomatosis and Renal Cell Cancer term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHML CHM like Rab escort protein IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:241,628,851...241,640,369
Ensembl chr 1:241,628,851...241,640,369
JBrowse link
G CHRM3 cholinergic receptor muscarinic 3 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:239,386,565...239,915,450
Ensembl chr 1:239,386,565...239,915,452
JBrowse link
G EXO1 exonuclease 1 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:241,847,967...241,889,939
Ensembl chr 1:241,847,967...241,895,148
JBrowse link
G FH fumarate hydratase IAGP
EXP
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar Annotator: match by term: Leiomyoma, multiple cutaneous
ClinVar Annotator: match by term: MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:9635293 PMID:11865300 PMID:12761039 PMID:12772087 PMID:14632190 More... RGD:1598939 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
JBrowse link
G FMN2 formin 2 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:240,091,883...240,475,187
Ensembl chr 1:240,014,348...240,475,187
JBrowse link
G GREM2 gremlin 2, DAN family BMP antagonist IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:240,489,573...240,612,372
Ensembl chr 1:240,489,573...240,612,155
JBrowse link
G KMO kynurenine 3-monooxygenase IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:241,531,883...241,595,642
Ensembl chr 1:241,532,134...241,595,642
JBrowse link
G MAP1LC3C microtubule associated protein 1 light chain 3 gamma IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:241,995,194...242,001,393
Ensembl chr 1:241,995,490...241,999,098
JBrowse link
G OPN3 opsin 3 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:241,593,124...241,640,369
Ensembl chr 1:241,590,102...241,677,376
Ensembl chr 1:241,590,102...241,677,376
JBrowse link
G PLD5 phospholipase D family member 5 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:242,082,986...242,530,546
Ensembl chr 1:242,082,986...242,524,697
JBrowse link
G RGS7 regulator of G protein signaling 7 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:240,774,742...241,357,230
Ensembl chr 1:240,775,514...241,357,230
JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
JBrowse link
G WDR64 WD repeat domain 64 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:241,652,278...241,802,777
Ensembl chr 1:241,652,278...241,802,777
JBrowse link
G ZP4 zona pellucida glycoprotein 4 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:237,882,404...237,890,922
Ensembl chr 1:237,877,864...237,890,922
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20257
    syndrome 9133
      Hereditary Neoplastic Syndromes 1039
        Hereditary Leiomyomatosis and Renal Cell Cancer 14
Path 2
Term Annotations click to browse term
  disease 20257
    disease of anatomical entity 18858
      nervous system disease 14839
        peripheral nervous system disease 2780
          neuropathy 2573
            neuromuscular disease 2047
              muscular disease 1371
                muscle tissue disease 917
                  Muscle Tissue Neoplasms 140
                    leiomyoma 66
                      leiomyomatosis 15
                        Hereditary Leiomyomatosis and Renal Cell Cancer 14
paths to the root