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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Basal cell carcinoma
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Accession:HP:0002671 term browser browse the term
Definition:The presence of a basal cell carcinoma of the skin.
Comment:A basal cell carcinoma is the most common type of skin cancer which rarely metastasizes, but is still considered malignant because it can cause significant destruction and disfigurement by invading surrounding tissues. In 80 percent of all cases, basal cell cancers are found on the head and neck or on other sun-exposed areas of the body. Apart from sporadic basal cell carcinoma, there are hereditary conditions such as the basal cell nevus syndrome where patients develop multiple basal cell carcinomas throughout life.
Synonyms:exact_synonym: Basal cell carcinomas;   Basal cell epithelioma;   Basal cell nevus;   Basalioma
 xref: EFO:0004193;   NCI:C2921;   SNOMEDCT_US:1338007;   SNOMEDCT_US:254701007;   SNOMEDCT_US:275265005;   UMLS:C0007117;   UMLS:C1862314


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Basal cell carcinoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAGAB alpha and gamma adaptin binding protein IAGP HPO ORPHA:79501 NCBI chr15:67,200,667...67,255,198
Ensembl chr15:67,200,667...67,255,195 		JBrowse link
G ANAPC1 anaphase promoting complex subunit 1 IAGP HPO ORPHA:221008 NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:99818 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G ATM ATM serine/threonine kinase IAGP HPO ORPHA:440437 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO ORPHA:440437 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:440437 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G CASP10 caspase 10 IAGP HPO ORPHA:3261 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:440437 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G CIB1 calcium and integrin binding 1 IAGP HPO MIM:618267 NCBI chr15:90,229,975...90,265,759
Ensembl chr15:90,229,975...90,234,047 		JBrowse link
G COL14A1 collagen type XIV alpha 1 chain IAGP HPO ORPHA:79501 NCBI chr 8:120,124,454...120,373,573
Ensembl chr 8:120,059,780...120,373,573 		JBrowse link
G COL17A1 collagen type XVII alpha 1 chain IAGP HPO ORPHA:79406 NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP HPO ORPHA:79408 ORPHA:79409 ORPHA:79410 ORPHA:79411 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329 		JBrowse link
G CYLD CYLD lysine 63 deubiquitinase IAGP HPO MIM:601606 ORPHA:867 NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935 		JBrowse link
G DDB2 damage specific DNA binding protein 2 IAGP HPO MIM:278740 NCBI chr11:47,214,454...47,239,217
Ensembl chr11:47,214,465...47,239,217 		JBrowse link
G DICER1 dicer 1, ribonuclease III IAGP HPO ORPHA:276399 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP HPO ORPHA:144 NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO MIM:601675 ORPHA:220295 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO MIM:610651 ORPHA:220295 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO MIM:278760 ORPHA:220295 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP HPO ORPHA:220295 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G FAS Fas cell surface death receptor IAGP HPO ORPHA:3261 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand IAGP HPO ORPHA:3261 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FOXE1 forkhead box E1 IAGP HPO MIM:616534 NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO MIM:163200 ORPHA:2874 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 IAGP HPO ORPHA:276399 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO MIM:163200 ORPHA:144 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:363618 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G MC1R melanocortin 1 receptor IAGP HPO ORPHA:79432 NCBI chr16:89,918,862...89,920,972
Ensembl chr16:89,912,119...89,920,973 		JBrowse link
G MLH1 mutL homolog 1 IAGP HPO MIM:158320 MIM:276300 ORPHA:144 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MMP1 matrix metallopeptidase 1 IAGP HPO ORPHA:79408 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MSH2 mutS homolog 2 IAGP HPO MIM:158320 ORPHA:144 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G MSH6 mutS homolog 6 IAGP HPO ORPHA:144 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G MUTYH mutY DNA glycosylase IAGP HPO ORPHA:440437 NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO MIM:163200 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NTHL1 nth like DNA glycosylase 1 IAGP HPO MIM:616415 ORPHA:454840 NCBI chr16:2,039,820...2,047,834
Ensembl chr16:2,039,815...2,047,866 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:79432 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ClinVar Annotator: match by term: Basal cell carcinoma ClinVar PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:25099575 More... NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:144 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component IAGP HPO ORPHA:144 NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP HPO ORPHA:144 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP HPO ORPHA:440437 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP HPO ORPHA:440437 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G POLH DNA polymerase eta IAGP HPO MIM:278750 ORPHA:90342 NCBI chr 6:43,576,185...43,620,523
Ensembl chr 6:43,576,185...43,620,523 		JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Basal cell carcinoma ClinVar
HPO		 MIM:109400 MIM:605462 ORPHA:377 ORPHA:77301 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTCH2 patched 2 IAGP HPO MIM:605462 ORPHA:377 NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,154...44,843,253 		JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP HPO MIM:605462 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO MIM:268400 ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO MIM:250250 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G RPS19 ribosomal protein S19 IAGP HPO MIM:105650 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925 		JBrowse link
G RPS20 ribosomal protein S20 IAGP HPO ORPHA:440437 NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510 		JBrowse link
G SEMA4A semaphorin 4A IAGP HPO ORPHA:440437 NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP ClinVar Annotator: match by term: Basal cell carcinoma ClinVar
HPO		 PMID:19726788 PMID:22679179 PMID:25759020 MIM:605462 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO MIM:620343 ORPHA:377 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:144 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G TMC6 transmembrane channel like 6 IAGP HPO MIM:226400 NCBI chr17:78,107,397...78,132,427
Ensembl chr17:78,107,397...78,132,407 		JBrowse link
G TYMS thymidylate synthetase IAGP HPO MIM:620040 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578 		JBrowse link
G TYR tyrosinase IAGP HPO ORPHA:79431 ORPHA:79434 NCBI chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759 		JBrowse link
G WNT10A Wnt family member 10A IAGP HPO MIM:224750 ORPHA:50944 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581 		JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor IAGP HPO MIM:278720 NCBI chr 3:14,145,147...14,178,601
Ensembl chr 3:14,145,145...14,178,621 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Neoplasm 15251
        Neoplasm by anatomical site 15044
          Neoplasm of the skin 1658
            Basal cell carcinoma 640
              Basalioma of the outer ear 0
paths to the root