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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:breast lobular carcinoma
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Accession:DOID:0050938 term browser browse the term
Definition:A breast carcinoma that derives_from breast lobules (milk glands). (DO)
Synonyms:exact_synonym: lobular carcinoma;   lobular carcinoma of breast;   lobular carcinoma of the breast;   lobular carcinomas
 primary_id: MESH:D018275
 xref: NCI:C3771
For additional species annotation, visit the Alliance of Genome Resources.


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breast lobular carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr1a angiotensin II receptor, type 1a ISO CTD Direct Evidence: marker/mechanism CTD PMID:8389152 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8389152 NCBI chr  X:119,389,480...119,393,845
Ensembl chr  X:119,390,013...119,393,842
JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8557030 PMID:17660459 NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
JBrowse link
G Myh9 myosin, heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28650484 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G Ppp1r12b protein phosphatase 1, regulatory subunit 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:28650484 NCBI chr13:51,583,603...51,784,641
Ensembl chr13:51,584,299...51,784,639
JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15609129 NCBI chr10:88,764,732...88,789,060
Ensembl chr10:88,764,732...88,789,057
JBrowse link
G Tp53bp2 tumor protein p53 binding protein, 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28650484 NCBI chr13:100,817,206...100,873,837
Ensembl chr13:100,817,359...100,873,890
JBrowse link
invasive lobular carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Invasive Lobular Breast Carcinoma ClinVar PMID:14973102 PMID:25741868 PMID:27257965 PMID:27907908 PMID:28222693 PMID:28492532 PMID:28664449 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Ccnd1 cyclin D1 ISO protein:increased expression:breast
DNA:amplification:cds (human)
RGD PMID:12203362, PMID:12448002 RGD:2289133, RGD:11353788 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Ccnd2 cyclin D2 ISO DNA:hypermethylation:promoter, breast RGD PMID:14601057 RGD:2289156 NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207
JBrowse link
G Cd44 CD44 molecule (Indian blood group) ISO mRNA, protein:splice variants, altered localization:breast RGD PMID:11245336 RGD:2289362 NCBI chr 3:92,695,083...92,783,820
Ensembl chr 3:92,696,313...92,783,658
JBrowse link
G Cdh1 cadherin 1 ISO DNA:nonsense mutation: :517insA (human) RGD PMID:17660459, PMID:18213475 RGD:2289492, RGD:2289450 NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
JBrowse link
G Ctnna1 catenin alpha 1 ISO protein:decreased expression:breast RGD PMID:12047765 RGD:2289795 NCBI chr18:27,923,229...28,055,972
Ensembl chr18:27,923,572...28,055,960
JBrowse link
G Ctnnb1 catenin beta 1 ISO protein:decreased expression:breast RGD PMID:17721269 RGD:2289814 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 severity ISO RGD PMID:16761510 RGD:2289935 NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
JBrowse link
G Faslg Fas ligand ISO protein:increased expression:breast RGD PMID:10640988 RGD:2290134 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO protein:altered localization:nucleus RGD PMID:15609129 RGD:2291932 NCBI chr10:88,764,732...88,789,060
Ensembl chr10:88,764,732...88,789,057
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    disease of cellular proliferation 6936
      Neoplasms by Histologic Type 4454
        Glandular and Epithelial Neoplasms 3112
          Ductal, Lobular, and Medullary Neoplasms 261
            breast lobular carcinoma 15
              invasive lobular carcinoma 10
Path 2
Term Annotations click to browse term
  disease 17014
    disease of anatomical entity 16363
      nervous system disease 11947
        sensory system disease 5443
          skin disease 2816
            breast disease 1297
              Breast Neoplasms 1289
                breast cancer 630
                  breast carcinoma 259
                    breast lobular carcinoma 15
                      invasive lobular carcinoma 10
paths to the root