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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:Hamartoma
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Accession:HP:0010566 term browser browse the term
Definition:A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.
Synonyms:xref: MESH:D006222;   SNOMEDCT_US:400006008;   SNOMEDCT_US:51398009;   UMLS:C0018552


show annotations for term's descendants           Sort by:
Hamartoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta IAGP HPO NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ACVR1 activin A receptor type 1 IAGP HPO NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G CDC73 cell division cycle 73 IAGP HPO NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Hamartoma ClinVar PMID:1908846 PMID:7773297 PMID:8858131 PMID:9677066 PMID:10073901 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP HPO NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533 		JBrowse link
G NEK9 NIMA related kinase 9 IAGP HPO NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,563...87,971,930 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP HPO NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP ClinVar Annotator: match by term: Hamartoma ClinVar PMID:9242607 PMID:9328481 PMID:9803264 PMID:9863590 PMID:9924605 More... 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 ClinVar Annotator: match by term: Hamartoma ClinVar PMID:25741868 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
Conjunctival hamartoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP HPO NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533 		JBrowse link
G KRT1 keratin 1 IAGP HPO NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407 		JBrowse link
G KRT10 keratin 10 IAGP HPO NCBI chr17:40,818,117...40,822,614
Ensembl chr17:40,818,117...40,822,614 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO 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 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,563...87,971,930 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,722...17,054,032 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO 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 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 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 NCBI chr 3:113,648,385...113,696,642
Ensembl chr 3:113,648,385...113,696,646 		JBrowse link
Cortical tubers term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNG interferon gamma IAGP HPO 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 ClinVar Annotator: match by term: Cortical tubers HPO
ClinVar		 PMID:9924605 PMID:10227394 PMID:10363127 PMID:11112665 PMID:12015165 More... 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 ClinVar Annotator: match by term: Cortical tubers HPO
ClinVar		 PMID:10205261 PMID:16199547 PMID:17304050 PMID:25741868 PMID:25927202 More... NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
Hamartomatous polyposis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,756,601...86,932,825 		JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP HPO NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO 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 ClinVar Annotator: match by term: Hamartomatous polyposis HPO
ClinVar		 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,563...87,971,930 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,722...17,054,032 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO 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 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 NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP HPO NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G USF3 upstream transcription factor family member 3 IAGP HPO NCBI chr 3:113,648,385...113,696,642
Ensembl chr 3:113,648,385...113,696,646 		JBrowse link
Hamartomatous stomach polyps term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTCH1 patched 1 IAGP HPO 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 NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
Hypothalamic hamartoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP HPO NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376 		JBrowse link
G FAM149B1 family with sequence similarity 149 member B1 IAGP HPO NCBI chr10:73,168,119...73,244,504
Ensembl chr10:73,168,119...73,244,504 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP ClinVar Annotator: match by term: Hypothalamic hamartoma
DNA:mutations:exon, intron:multiple		 HPO
ClinVar
RGD		 PMID:25741868 PMID:15739154 RGD:12738222 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G MAN2C1 mannosidase alpha class 2C member 1 IAGP HPO NCBI chr15:75,355,792...75,368,607
Ensembl chr15:75,355,207...75,368,612 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G PDE6D phosphodiesterase 6D IAGP HPO NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272 		JBrowse link
G SIX6 SIX homeobox 6 IAGP HPO NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP ClinVar Annotator: match by term: Hypothalamic hamartoma HPO
ClinVar		 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 PMID:30497210 More... NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP HPO NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TIAM1 TIAM Rac1 associated GEF 1 IAGP HPO NCBI chr21:31,118,418...31,559,087
Ensembl chr21:31,118,416...31,559,977 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase IAGP HPO NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586 		JBrowse link
G VPS16 VPS16 core subunit of CORVET and HOPS complexes IAGP HPO NCBI chr20:2,840,745...2,866,732
Ensembl chr20:2,840,703...2,866,732 		JBrowse link
Juvenile colonic polyposis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,756,601...86,932,825 		JBrowse link
G GREM1 gremlin 1, DAN family BMP antagonist IAGP HPO NCBI chr15:32,718,004...32,745,106
Ensembl chr15:32,718,004...32,745,106 		JBrowse link
Juvenile gastrointestinal polyposis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSH3 mutS homolog 3 IAGP HPO NCBI chr 5:80,654,652...80,876,815
Ensembl chr 5:80,654,652...80,876,815 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045 		JBrowse link
Lisch nodules term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSH6 mutS homolog 6 IAGP HPO NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Lisch nodules
ClinVar Annotator: match by term: Iris hamartomas		 HPO
ClinVar		 PMID:9150739 PMID:9475595 PMID:10712197 PMID:15146469 PMID:16835897 More... 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 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 IAGP HPO NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249 		JBrowse link
Lymphangioma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 IAGP HPO NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Lymphangioma ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain IAGP HPO NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO 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 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G PAK2 p21 (RAC1) activated kinase 2 IAGP HPO NCBI chr 3:196,739,857...196,832,647
Ensembl chr 3:196,739,857...196,832,647 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,563...87,971,930 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
Numerous nevi term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CDK4 cyclin dependent kinase 4 IAGP HPO NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP ClinVar Annotator: match by term: Numerous nevi ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G PCGF2 polycomb group ring finger 2 IAGP HPO NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP HPO NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
Odontoma 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 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239 		JBrowse link
G FGF3 fibroblast growth factor 3 IAGP HPO NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416 		JBrowse link
Renal angiomyolipoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G IFNG interferon gamma IAGP HPO NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G MVK mevalonate kinase IAGP HPO NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO 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 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
Renal hamartoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC73 cell division cycle 73 IAGP HPO NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 IAGP HPO NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350 		JBrowse link
Retinal astrocytic hamartoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNG interferon gamma IAGP HPO 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 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 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
Retinal capillary hemangioma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCND1 cyclin D1 IAGP HPO 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 NCBI chr14:74,881,916...74,903,743
Ensembl chr14:74,881,891...74,903,743 		JBrowse link
G FH fumarate hydratase IAGP HPO 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 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 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 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 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 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 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 NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,733 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,722...17,054,032 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO 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 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 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 NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,514...96,265,997 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: Retinal hemangioblastoma HPO
ClinVar		 PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667 		JBrowse link
Retinal hamartoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G IFNG interferon gamma IAGP HPO NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,563...87,971,930 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO 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 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
Subependymal nodules term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCDH glutaryl-CoA dehydrogenase IAGP HPO NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207 		JBrowse link
G IFNG interferon gamma IAGP HPO 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 DNA:nonsense mutation:exon:p.R509X (c.1525C>T) HPO
RGD		 PMID:25900779 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 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 16463
    Phenotypic abnormality 16461
      Neoplasm 4021
        Neoplasm by histology 1236
          Hamartoma 82
            Cerebral hamartoma + 20
            Chorangioma 0
            Cutaneous hamartoma 0
            Fibrous hamartoma 0
            Hamartoma of the orbital region + 30
            Hamartomatous polyposis + 17
            Liver hamartoma 0
            Lymphangioma + 11
            Numerous nevi 10
            Odontoma 2
            Renal hamartoma + 7
            Spleen hamartoma 0
            Vascular hamartoma 0
paths to the root