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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:Neoplasm of the adrenal gland
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Accession:HP:0100631 term browser browse the term
Definition:A tumor (abnormal growth of tissue) of the adrenal gland.
Synonyms:exact_synonym: Adrenal neoplasia
 xref: NCI:C3262;   SNOMEDCT_US:127021009;   UMLS:C0001624


show annotations for term's descendants           Sort by:
Neoplasm of the adrenal gland term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEN1 menin 1 IAGP HPO ORPHA:97279 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G YY1 YY1 transcription factor IAGP HPO ORPHA:97279 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788 		JBrowse link
Adrenal pheochromocytoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCND1 cyclin D1 IAGP HPO ORPHA:892 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G DLST dihydrolipoamide S-succinyltransferase IAGP HPO ORPHA:29072 NCBI chr14:74,881,916...74,903,743
Ensembl chr14:74,881,891...74,903,743 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP HPO ORPHA:276621 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 IAGP HPO ORPHA:276621 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697 		JBrowse link
G FH fumarate hydratase IAGP HPO ORPHA:29072 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799 		JBrowse link
G KIF1B kinesin family member 1B IAGP HPO ORPHA:29072 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G MAX MYC associated factor X IAGP HPO ORPHA:29072 NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695 		JBrowse link
G MDH2 malate dehydrogenase 2 IAGP HPO ORPHA:29072 NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:29072 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G RET ret proto-oncogene IAGP HPO ORPHA:276621 ORPHA:29072 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO ORPHA:29072 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 IAGP HPO ORPHA:29072 NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO MIM:115310 ORPHA:276621 ORPHA:29072 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO MIM:605373 ORPHA:29072 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO MIM:168000 ORPHA:276621 ORPHA:29072 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SLC25A11 solute carrier family 25 member 11 IAGP HPO ORPHA:29072 NCBI chr17:4,937,130...4,940,046
Ensembl chr17:4,937,130...4,940,053 		JBrowse link
G TMEM127 transmembrane protein 127 IAGP HPO ORPHA:29072 NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,500...96,266,047 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP HPO ORPHA:276621 ORPHA:29072 ORPHA:892 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676 		JBrowse link
Adrenocortical adenoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP HPO MIM:175100 ORPHA:247806 ORPHA:79665 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G CACNA1S calcium voltage-gated channel subunit alpha1 S IAGP HPO ORPHA:681 NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:276152 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 IAGP HPO ORPHA:681 NCBI chr11:74,454,841...74,467,549
Ensembl chr11:74,454,841...74,467,729 		JBrowse link
G MEN1 menin 1 IAGP ClinVar Annotator: match by term: Adrenocortical adenoma ClinVar
HPO		 PMID:10647896 MIM:131100 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO ORPHA:681 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
Adrenocortical carcinoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Adrenocortical carcinoma ClinVar NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO MIM:175100 ORPHA:247806 ORPHA:79665 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP ClinVar Annotator: match by term: Adrenocortical carcinoma ClinVar PMID:25674384 PMID:28492532 PMID:30349098 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Adrenocortical carcinoma ClinVar NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP ClinVar Annotator: match by term: Adrenocortical carcinoma ClinVar PMID:15591283 PMID:18409179 PMID:23681356 PMID:28492532 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Adrenal gland carinoma ClinVar PMID:12068308 PMID:14612909 PMID:14679157 PMID:14688025 PMID:17096326 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO ORPHA:652 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:652 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP HPO MIM:130650 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:1501 ORPHA:524 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO ORPHA:652 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305 		JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP ClinVar Annotator: match by term: Adrenocortical carcinoma ClinVar
HPO		 ORPHA:652 NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP ClinVar Annotator: match by term: Adrenocortical carcinoma HPO
ClinVar		 PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 PMID:11461078 More... ORPHA:524 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Adrenal gland carinoma
ClinVar Annotator: match by term: Adrenocortical carcinoma		 ClinVar
HPO		 PMID:9065403 PMID:9500465 PMID:9927029 PMID:10027390 PMID:10192393 More... ORPHA:1501 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G FAF1 Fas associated factor 1 IAGP ClinVar Annotator: match by term: Adrenocortical carcinoma ClinVar NCBI chr 1:50,437,028...50,960,267
Ensembl chr 1:50,437,028...50,960,267 		JBrowse link
G GNAS GNAS complex locus IAGP ClinVar Annotator: match by term: Adrenal gland carinoma
ClinVar Annotator: match by term: Adrenocortical carcinoma		 ClinVar PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 More... NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP HPO MIM:130650 NCBI chr11:1,998,202...2,003,509 JBrowse link
G H3-3A H3.3 histone A IAGP ClinVar Annotator: match by term: Adrenal gland carinoma ClinVar PMID:26619011 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO MIM:130650 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G INSL6 insulin like 6 IAGP ClinVar Annotator: match by term: Adrenocortical carcinoma ClinVar NCBI chr 9:4,991,976...5,185,639
Ensembl chr 9:5,123,880...5,185,647 		JBrowse link
G JAK2 Janus kinase 2 IAGP ClinVar Annotator: match by term: Adrenocortical carcinoma ClinVar NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP HPO MIM:130650 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP HPO MIM:130650 NCBI chr11:2,608,328...2,699,994
Ensembl chr11:2,597,308...2,700,003 		JBrowse link
G KMT2A lysine methyltransferase 2A IAGP ClinVar Annotator: match by term: Adrenocortical carcinoma ClinVar PMID:22795537 PMID:25356970 PMID:25741868 PMID:25810209 PMID:27959697 More... NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832 		JBrowse link
G LOC126806658 BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 IAGP ClinVar Annotator: match by term: Adrenocortical carcinoma ClinVar PMID:9065403 PMID:9500465 PMID:9927029 PMID:10027390 PMID:10192393 More... NCBI chr 3:41,224,408...41,225,607 JBrowse link
G MDM2 MDM2 proto-oncogene IAGP HPO ORPHA:524 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544 		JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:652 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MLH1 mutL homolog 1 IAGP ClinVar Annotator: match by term: Adrenocortical carcinoma ClinVar NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MSH6 mutS homolog 6 IAGP ClinVar Annotator: match by term: Adrenocortical carcinoma ClinVar NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Adrenal gland carinoma
ClinVar Annotator: match by term: Adrenocortical carcinoma		 ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Adrenal gland carinoma
ClinVar Annotator: match by term: Adrenocortical carcinoma		 ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:1501 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G RAD52 RAD52 homolog, DNA repair protein IAGP ClinVar Annotator: match by term: Adrenocortical carcinoma ClinVar NCBI chr12:911,736...991,122
Ensembl chr12:911,736...990,053 		JBrowse link
G SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 IAGP ClinVar Annotator: match by term: Adrenocortical carcinoma ClinVar NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:1501 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Adrenocortical carcinoma ClinVar
HPO		 PMID:253702 PMID:1349102 PMID:1565143 PMID:1565144 PMID:1631137 More... MIM:151623 MIM:202300 ORPHA:1501 ORPHA:524 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G ZNRF3 zinc and ring finger 3 IAGP HPO ORPHA:1501 NCBI chr22:28,883,572...29,057,488
Ensembl chr22:28,883,572...29,057,488 		JBrowse link
Neoplasm of the adrenal cortex term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:163634 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP HPO ORPHA:163634 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:109 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
Secretory adrenocortical adenoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN2 chloride voltage-gated channel 2 IAGP HPO ORPHA:404 NCBI chr 3:184,346,185...184,361,605
Ensembl chr 3:184,346,185...184,361,650 		JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 IAGP HPO ORPHA:403 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846 		JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 IAGP HPO ORPHA:403 NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of the endocrine system 4618
        Neoplasm of the endocrine system 1299
          Neoplasm of the adrenal gland 65
            Adrenal leiomyoma 0
            Neoplasm of the adrenal cortex + 46
            Neoplasm of the adrenal medulla + 18
Path 2
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of the endocrine system 4618
        Abnormality of the adrenal glands 265
          Abnormal adrenal morphology 182
            Neoplasm of the adrenal gland 65
              Adrenal leiomyoma 0
              Neoplasm of the adrenal cortex + 46
              Neoplasm of the adrenal medulla + 18
paths to the root