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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:Fibrous tissue neoplasm
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Accession:HP:0012316 term browser browse the term
Definition:Any neoplasm composed of fibrous tissue.
Synonyms:xref: UMLS:C0206643


show annotations for term's descendants           Sort by:
Adenoma sebaceum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:201 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		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 HRAS HRas proto-oncogene, GTPase IAGP HPO ORPHA:2612 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G IFNG interferon gamma IAGP HPO MIM:613254 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP HPO ORPHA:201 NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:144 ORPHA:2612 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G KRT17 keratin 17 IAGP HPO ORPHA:841 NCBI chr17:41,619,442...41,624,575
Ensembl chr17:41,619,442...41,624,842 		JBrowse link
G MEN1 menin 1 IAGP HPO MIM:131100 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MLH1 mutL homolog 1 IAGP HPO MIM:158320 ORPHA:144 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		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 NRAS NRAS proto-oncogene, GTPase IAGP HPO ORPHA:2612 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 HPO ORPHA:144 ORPHA:201 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PLCD1 phospholipase C delta 1 IAGP HPO ORPHA:2387 NCBI chr 3:38,007,496...38,029,642
Ensembl chr 3:38,007,496...38,029,642 		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 PTEN phosphatase and tensin homolog IAGP HPO ORPHA:201 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:201 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 ORPHA:201 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 ORPHA:201 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component IAGP HPO ORPHA:201 NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415 		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 TSC1 TSC complex subunit 1 IAGP HPO MIM:191100 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO MIM:613254 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G USF3 upstream transcription factor family member 3 IAGP HPO ORPHA:201 NCBI chr 3:113,648,385...113,696,642
Ensembl chr 3:113,648,385...113,696,646 		JBrowse link
Angiofibromas term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:276152 ORPHA:652 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		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 HPO ORPHA:652 NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634 		JBrowse link
G IFNG interferon gamma IAGP HPO MIM:613254 ORPHA:805 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		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 SUFU SUFU negative regulator of hedgehog signaling IAGP HPO MIM:620343 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP DNA:nonsense mutation:exon:p.R509X (c.1525C>T) HPO
RGD		 PMID:25900779 MIM:191100 ORPHA:805, RGD:11073512 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO MIM:613254 ORPHA:805 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
Atypical neurofibromatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF1 neurofibromin 1 IAGP HPO ORPHA:97685 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
Cardiac fibroma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTCH1 patched 1 IAGP HPO MIM:109400 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 ORPHA:377 NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,154...44,843,253 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:377 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
Fibroadenoma of the breast term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO MIM:615109 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO MIM:175100 ORPHA:247806 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		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 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 PDE11A phosphodiesterase 11A IAGP HPO ORPHA:1359 NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:1359 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G PRLR prolactin receptor IAGP HPO MIM:615554 NCBI chr 5:35,048,756...35,230,487
Ensembl chr 5:35,048,756...35,230,487 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO MIM:158350 ORPHA:65285 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
Fibroma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:201 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO MIM:175100 ORPHA:873 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G CDC73 cell division cycle 73 IAGP HPO ORPHA:143 ORPHA:99880 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP HPO ORPHA:1018 NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545 		JBrowse link
G COL4A6 collagen type IV alpha 6 chain IAGP HPO ORPHA:1018 NCBI chr  X:108,155,614...108,439,458
Ensembl chr  X:108,155,607...108,439,497 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:873 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G FLNA filamin A IAGP HPO MIM:300244 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO MIM:619750 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP HPO ORPHA:201 NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533 		JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO ORPHA:2591 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO MIM:228550 ORPHA:2591 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:201 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:201 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:201 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 ORPHA:201 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 ORPHA:201 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component IAGP HPO ORPHA:201 NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415 		JBrowse link
G USF3 upstream transcription factor family member 3 IAGP HPO ORPHA:201 NCBI chr 3:113,648,385...113,696,642
Ensembl chr 3:113,648,385...113,696,646 		JBrowse link
Gingival fibromatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA5 ATP binding cassette subfamily A member 5 IAGP HPO MIM:135400 ORPHA:2026 NCBI chr17:69,244,311...69,327,133
Ensembl chr17:69,244,311...69,327,244 		JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 IAGP HPO MIM:228600 ORPHA:2028 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454 		JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO ORPHA:3473 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,230,399 		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 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 HPO ORPHA:652 NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP HPO MIM:602398 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195 		JBrowse link
G ELMO2 engulfment and cell motility 2 IAGP HPO ORPHA:3019 NCBI chr20:46,366,050...46,406,615
Ensembl chr20:46,366,050...46,432,985 		JBrowse link
G FAM20A FAM20A golgi associated secretory pathway pseudokinase IAGP HPO MIM:204690 NCBI chr17:68,535,116...68,601,367
Ensembl chr17:68,535,113...68,601,367 		JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase IAGP HPO ORPHA:1832 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772 		JBrowse link
G IFNG interferon gamma IAGP HPO MIM:613254 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP HPO MIM:135500 ORPHA:3473 NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165 		JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP HPO ORPHA:3473 NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281 		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 NOTCH3 notch receptor 3 IAGP HPO ORPHA:2591 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO ORPHA:2591 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G REST RE1 silencing transcription factor IAGP HPO MIM:617626 ORPHA:2024 NCBI chr 4:56,907,900...56,935,844
Ensembl chr 4:56,907,876...56,966,808 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Idiopathic gingival hyperplasia
ClinVar Annotator: match by term: Gingival fibromatosis		 ClinVar
HPO		 PMID:25741868 PMID:28492532 MIM:135300 ORPHA:2024 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO MIM:191100 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO MIM:613254 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G ZNF862 zinc finger protein 862 IAGP ClinVar Annotator: match by term: Gingival fibromatosis ClinVar PMID:25741868 PMID:35142290 NCBI chr 7:149,838,375...149,867,479
Ensembl chr 7:149,838,375...149,867,479 		JBrowse link
Histiocytoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CREB1 cAMP responsive element binding protein 1 IAGP HPO MIM:612160 NCBI chr 2:207,529,962...207,605,988
Ensembl chr 2:207,529,737...207,605,988 		JBrowse link
G MTAP methylthioadenosine phosphorylase IAGP HPO MIM:112250 NCBI chr 9:21,802,636...21,941,115
Ensembl chr 9:21,802,636...21,937,651 		JBrowse link
Inclusion body fibromatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP HPO ORPHA:88630 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
Neurofibroma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:2495 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 IAGP HPO ORPHA:2495 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO MIM:606764 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G LRP1 LDL receptor related protein 1 IAGP HPO ORPHA:79100 NCBI chr12:57,128,483...57,213,361
Ensembl chr12:57,128,483...57,213,361 		JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Neurofibroma
ClinVar Annotator: match by term: Neurofibromatosis		 ClinVar
HPO		 PMID:1568247 PMID:7581973 PMID:7981679 PMID:8264648 PMID:8499944 More... MIM:162200 MIM:162210 MIM:193520 MIM:601321 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO MIM:101000 ORPHA:2495 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598 		JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP HPO ORPHA:2495 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:2495 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Neurofibroma ClinVar PMID:17052965 PMID:21548061 PMID:24033266 PMID:24451042 PMID:24803665 More... NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO MIM:606764 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:606764 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP HPO ORPHA:2495 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMARCE1 SWI/SNF related BAF chromatin remodeling complex subunit E1 IAGP HPO ORPHA:2495 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO ORPHA:2495 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 IAGP HPO MIM:611431 ORPHA:137605 NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249 		JBrowse link
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP HPO MIM:619475 NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO MIM:620343 ORPHA:2495 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:2495 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP HPO ORPHA:2495 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		JBrowse link
Ossifying fibroma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF1 neurofibromin 1 IAGP HPO ORPHA:363700 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
Ossifying fibroma of the jaw term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC73 cell division cycle 73 IAGP ClinVar Annotator: match by term: Ossifying fibroma of the jaw ClinVar PMID:27658992 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815 		JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP HPO ORPHA:457395 NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469 		JBrowse link
Ovarian fibroma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTCH1 patched 1 IAGP HPO MIM:109400 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 ORPHA:377 NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,154...44,843,253 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:377 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
Plexiform neurofibroma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MLH1 mutL homolog 1 IAGP HPO MIM:276300 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Plexiform neurofibroma ClinVar
HPO		 PMID:25741868 PMID:28492532 MIM:162200 MIM:162210 MIM:601321 ORPHA:97685 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
Spinal neurofibroma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Spinal neurofibromas ClinVar
HPO		 MIM:162200 MIM:162210 ORPHA:363700 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
Subcutaneous neurofibroma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Subcutaneous neurofibroma ClinVar
HPO		 PMID:8837715 PMID:9180088 PMID:10543400 PMID:10678181 PMID:10712197 More... ORPHA:363700 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
Subungual fibromas term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNG interferon gamma IAGP HPO MIM:613254 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO MIM:191100 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO MIM:613254 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
Symmetric spinal nerve root neurofibromas term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF1 neurofibromin 1 IAGP HPO MIM:162210 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
Ungual fibroma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNG interferon gamma IAGP HPO ORPHA:805 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO ORPHA:538 ORPHA:805 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO ORPHA:538 ORPHA:805 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		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 histology 2037
          Fibrous tissue neoplasm 76
            Fibroma + 74
            Histiocytoma 2
            Inclusion body fibromatosis 1
paths to the root