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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:Small cell lung carcinoma
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Accession:HP:0030357 term browser browse the term
Definition:Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly.
Synonyms:exact_synonym: Oat cell carcinoma of lung;   Oat cell lung cancer;   Small cell lung cancer
 xref: EFO:0000702;   SNOMEDCT_US:254632001;   SNOMEDCT_US:254633006;   UMLS:C0149925


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Small cell lung carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G ATM ATM serine/threonine kinase susceptibility IAGP DNA:SNP:intron:(rs227060) (human) RGD PMID:28642860 RGD:150383339 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G B2M beta-2-microglobulin IAGP ClinVar Annotator: match by term: Small cell lung cancer ClinVar NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G CDC27 cell division cycle 27 IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr17:47,117,703...47,189,295
Ensembl chr17:47,117,703...47,189,422 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 susceptibility IAGP DNA:SNP:CDS: (rs6068816)
DNA:SNP:3' utr: (rs4809957) 		RGD PMID:31264381 PMID:22797725 RGD:151665340, RGD:151665791 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		JBrowse link
G DSPP dentin sialophosphoprotein IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873 		JBrowse link
G FAT1 FAT atypical cadherin 1 IAGP DNA:mutations:multiple (human) RGD PMID:31199602 RGD:150429733 NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G KDM6A lysine demethylase 6A IAGP DNA:mutations:multiple: RGD PMID:31199602 RGD:150429733 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G KMT2C lysine methyltransferase 2C IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644 		JBrowse link
G LOC123956272 Sharpr-MPRA regulatory region 15588 IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr 7:152,265,024...152,265,318 JBrowse link
G LOC126806930 BRD4-independent group 4 enhancer GRCh37_chr3:195505212-195506411 IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr 3:195,778,341...195,779,540 JBrowse link
G LRP1B LDL receptor related protein 1B IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr 2:140,231,423...142,131,016
Ensembl chr 2:140,231,423...142,131,016 		JBrowse link
G MUC16 mucin 16, cell surface associated IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr19:8,848,844...9,065,751
Ensembl chr19:8,848,844...9,010,390 		JBrowse link
G MUC19 mucin 19, oligomeric (gene/pseudogene) IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr12:40,393,394...40,570,757
Ensembl chr12:40,393,395...40,570,832 		JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr11:1,074,874...1,110,508
Ensembl chr11:1,074,875...1,110,511 		JBrowse link
G MUC3A mucin 3A, cell surface associated IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr 7:100,949,534...100,968,347
Ensembl chr 7:100,949,534...100,968,347 		JBrowse link
G MUC4 mucin 4, cell surface associated IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973 		JBrowse link
G MUC6 mucin 6, oligomeric mucus/gel-forming (gene/pseudogene) IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr11:1,012,823...1,036,718
Ensembl chr11:1,012,823...1,036,718 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Small cell lung cancer ClinVar NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G RAD52 RAD52 homolog, DNA repair protein susceptibility
treatment 		IAGP DNA:SNP:3'utr: (rs7963551) (human)
DNA:SNP: (rs10774474)(human) 		RGD PMID:26629180 PMID:27531263 RGD:151660337, RGD:151660339 NCBI chr12:911,736...991,122
Ensembl chr12:911,736...990,053 		JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP ClinVar Annotator: match by term: Small cell lung carcinoma
ClinVar Annotator: match by term: Small cell lung cancer
ClinVar Annotator: match by term: Oat cell carcinoma of lung 		ClinVar PMID:1352883 PMID:2594029 PMID:2601691 PMID:7881418 PMID:8651278 More... NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436 		JBrowse link
G SLC25A5 solute carrier family 25 member 5 IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr  X:119,468,444...119,471,396
Ensembl chr  X:119,468,422...119,471,396 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TP73 tumor protein p73 IAGP DNA:mutations:multiple: RGD PMID:26168399 RGD:151347582 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201 		JBrowse link
G UBXN11 UBX domain protein 11 IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr 1:26,282,282...26,318,355
Ensembl chr 1:26,281,328...26,318,363 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 98856
    Phenotypic abnormality 98459
      Abnormality of the respiratory system 5359
        Neoplasm of the respiratory system 908
          Neoplasm of the lung 870
            Small cell lung carcinoma 81
Path 2
Term Annotations click to browse term
  Human phenotype 98856
    Phenotypic abnormality 98459
      Abnormality of the respiratory system 5359
        Abnormal respiratory system physiology 5071
          Abnormal respiratory system morphology 2716
            Abnormal lung morphology 2434
              Neoplasm of the lung 870
                Small cell lung carcinoma 81
paths to the root