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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:skin squamous cell carcinoma
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Accession:DOID:3151 term browser browse the term
Definition:A skin carcinoma that has_material_basis_in squamous cells. (DO)
Synonyms:exact_synonym: cutaneous squamous cell carcinoma;   epidermoid skin carcinoma;   spinous cell carcinoma;   squamous cell carcinoma of skin
 xref: EFO:1001927;   NCI:C4819
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
skin squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctcf CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123 		JBrowse link
G Ddx5 DEAD-box helicase 5 ISO protein:increased expression:foreskin (human) RGD PMID:22548649 RGD:9850272 NCBI chr10:91,723,508...91,732,210
Ensembl chr10:91,723,508...91,732,283 		JBrowse link
G Fat1 FAT atypical cadherin 1 disease_progression ISO associated with Neoplasm Metastasis RGD PMID:33328637 RGD:151347447 NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107 		JBrowse link
G Fgf10 fibroblast growth factor 10 ISO Pten conditional KO mouse RGD PMID:24582960 RGD:126928134 NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866 		JBrowse link
G Knstrn kinetochore-localized astrin/SPAG5 binding protein ISO DNA:mutation:cds: p.Ala40Glu (human)
DNA:mutation:cds: p.Ser24Phe(human)		 RGD PMID:30972880 PMID:25194279 RGD:28867225, RGD:28867226 NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715 		JBrowse link
G Pten phosphatase and tensin homolog ameliorates ISO RGD PMID:24582960 RGD:126928134 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
Ferguson-Smith tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbr1 transforming growth factor, beta receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ferguson-Smith type epithelioma | ClinVar Annotator: match by term: Multiple self-healing squamous epithelioma		 CTD
ClinVar
OMIM		 PMID:2511639 PMID:2647812 PMID:5173258 PMID:8499949 PMID:16596670 More... NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
keratoacanthoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:27283355 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:27283355 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:22949682 PMID:23246288 PMID:25741868 PMID:26619011 PMID:27283355 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
Multiple Self-healing Palmoplantar Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp1a NLR family, pyrin domain containing 1A susceptibility ISO ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:17377159 PMID:23349227 PMID:24033266 PMID:25050600 PMID:25741868 More... NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6939
      skin disease 3960
        Skin Neoplasms 399
          skin cancer 157
            skin carcinoma 63
              skin squamous cell carcinoma 11
                acantholytic squamous cell skin carcinoma 0
                basaloid squamous cell skin carcinoma 0
                clear cell squamous cell skin carcinoma 0
                keratoacanthoma + 5
                plantar verrucous skin carcinoma 0
                pseudovascular skin squamous cell carcinoma 0
                sarcomatoid squamous cell skin carcinoma 0
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13332
      Signs and Symptoms 10808
        Neurologic Manifestations 10040
          sensory system disease 6939
            skin disease 3960
              Skin Neoplasms 399
                skin cancer 157
                  skin carcinoma 63
                    skin squamous cell carcinoma 11
                      acantholytic squamous cell skin carcinoma 0
                      basaloid squamous cell skin carcinoma 0
                      clear cell squamous cell skin carcinoma 0
                      keratoacanthoma + 5
                      plantar verrucous skin carcinoma 0
                      pseudovascular skin squamous cell carcinoma 0
                      sarcomatoid squamous cell skin carcinoma 0
paths to the root