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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: EFO:0000570;   EFO:0008509;   ICDO:8520/3;   NCI:C3771


show annotations for term's descendants           Sort by:
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 chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8389152 NCBI chr  X:112,119,876...112,124,060
Ensembl chr  X:112,120,228...112,124,057 		JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Breast lobular carcinoma		 CTD
ClinVar		 PMID:8557030 PMID:9744472 PMID:15235021 PMID:17660459 PMID:20373070 More... NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28650484 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
G Ppp1r12b protein phosphatase 1, regulatory subunit 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:28650484 NCBI chr13:46,199,418...46,397,108
Ensembl chr13:46,201,251...46,397,108 		JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15609129 NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866 		JBrowse link
G Tp53bp2 tumor protein p53 binding protein, 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28650484 NCBI chr13:94,088,769...94,145,436
Ensembl chr13:94,088,709...94,145,432 		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:28222693 PMID:28492532 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		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 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Ccnd2 cyclin D2 ISO DNA:hypermethylation:promoter, breast RGD PMID:14601057 RGD:2289156 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
G Cd44 CD44 molecule ISO mRNA, protein:splice variants, altered localization:breast RGD PMID:11245336 RGD:2289362 NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620 		JBrowse link
G Cdh1 cadherin 1 ISO DNA:nonsense mutation: :517insA (human) RGD PMID:17660459 PMID:18213475 RGD:2289492, RGD:2289450 NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775 		JBrowse link
G Ctnna1 catenin alpha 1 ISO protein:decreased expression:breast RGD PMID:12047765 RGD:2289795 NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910 		JBrowse link
G Ctnnb1 catenin beta 1 ISO protein:decreased expression:breast RGD PMID:17721269 RGD:2289814 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 severity ISO RGD PMID:16761510 RGD:2289935 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Faslg Fas ligand ISO protein:increased expression:breast RGD PMID:10640988 RGD:2290134 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO protein:altered localization:nucleus RGD PMID:15609129 RGD:2291932 NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of cellular proliferation 7888
      Neoplasms by Histologic Type 5345
        Glandular and Epithelial Neoplasms 3801
          Ductal, Lobular, and Medullary Neoplasms 283
            breast lobular carcinoma 15
              invasive lobular carcinoma 10
Path 2
Term Annotations click to browse term
  disease 19134
    Pathological Conditions, Signs and Symptoms 13622
      Signs and Symptoms 11210
        Neurologic Manifestations 10445
          sensory system disease 7373
            skin disease 4319
              breast disease 1556
                Breast Neoplasms 1544
                  breast cancer 906
                    breast carcinoma 300
                      breast lobular carcinoma 15
                        invasive lobular carcinoma 10
paths to the root