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: Fibroepithelial Neoplasms
Accession: DOID:9007017
browse the term
Definition: Neoplasms composed of fibrous and epithelial tissue. The concept does not refer to neoplasms located in fibrous tissue or epithelium.
Synonyms: exact_synonym: Fibroepithelial Neoplasm
primary_id: MESH:D018225
xref: EFO:0007271
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WNT7B
Wnt family member 7B
ISO
mRNA:increased expression:tumor:increased in 10% of malignant neoplasms vs normal tissue and fibroadenomas
RGD
PMID:8168088
RGD:2291878
Ensembl chr22:44,988,647...45,044,841
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FOSL1
FOS like 1, AP-1 transcription factor subunit
ISO
mRNA, protein:increased expression:breast
RGD
PMID:17254320
RGD:2293756
NCBI chr11:61,252,513...61,261,032
Ensembl chr11:64,581,841...64,589,304
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MED12
mediator complex subunit 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25038752 PMID:26437033
NCBI chr X:60,386,820...60,410,730
Ensembl chr X:70,443,667...70,466,942
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RARA
retinoic acid receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437033
NCBI chr17:16,932,485...16,980,958
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WNT2
Wnt family member 2
ISO
mRNA:increased expression:breast
RGD
PMID:8168088
RGD:2291878
NCBI chr 7:109,244,772...109,291,472
Ensembl chr 7:121,936,031...121,985,862
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WNT4
Wnt family member 4
ISO
breast fibroadenoma; mRNA:increased expression:tumor:increased vs normal and malignant breast tissue (p=0.001)
RGD
PMID:8168088
RGD:2291878
NCBI chr 1:21,310,228...21,335,985
Ensembl chr 1:22,255,056...22,268,801
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PRLR
prolactin receptor
ISO
ClinVar Annotator: match by term: Multiple fibroadenomas of the breast
OMIM ClinVar
PMID:18779591 PMID:25741868
NCBI chr 5:75,139,852...75,321,695
Ensembl chr 5:80,532,058...80,600,403
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