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bone benign neoplasm - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:bone benign neoplasm
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Accession:DOID:0060094 term browser browse the term
Definition:A connective tissue benign neoplasm that is located_in bone. (DO)

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bone giant cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P H3-3A H3.3 histone A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr10:13,939,938...13,947,976
Ensembl chr10:13,923,077...13,948,484 		JBrowse link
G D H3-3A H3.3 histone A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr 7:38,797,168...38,805,417
Ensembl chr 7:38,797,448...38,805,416 		JBrowse link
G H H3-3A H3.3 histone A EXP CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019 		JBrowse link
G C H3f3a H3 histone, family 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chrNW_004955489:269,900...278,398
Ensembl chrNW_004955489:269,900...278,398 		JBrowse link
G R H3f3a H3.3 histone A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr13:95,065,085...95,076,695
Ensembl chr13:92,533,298...92,544,908 		JBrowse link
G M H3f3a H3.3 histone A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr 1:180,630,125...180,641,127
Ensembl chr 1:180,628,397...180,641,508 		JBrowse link
G B LOC100970414 histone H3.3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr 1:201,523,670...201,533,005
Ensembl chr 1:206,520,109...206,529,447 		JBrowse link
G N LOC101699418 histone H3.3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chrNW_004624807:194,372...203,205 JBrowse link
G S LOC101963041 histone H3.3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chrNW_004936526:2,835,002...2,842,328 JBrowse link
G G LOC103231004 histone H3.3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr25:3,696,153...3,704,886 JBrowse link
capillary hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624771:15,639,018...15,896,590
Ensembl chrNW_004624771:15,648,638...15,896,590 		JBrowse link
G G AKT3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr25:80,509,701...80,878,792
Ensembl chr25:80,515,168...80,816,018 		JBrowse link
G P AKT3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr10:16,441,465...16,741,745
Ensembl chr10:16,441,447...16,741,337 		JBrowse link
G S Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936526:6,944,056...7,201,226
Ensembl chrNW_004936526:6,944,005...7,200,583 		JBrowse link
G D AKT3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr 7:34,633,064...34,931,112
Ensembl chr 7:34,636,124...34,931,112 		JBrowse link
G B AKT3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838 		JBrowse link
G C Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955406:6,907,876...7,163,672 JBrowse link
G R Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr13:91,475,839...91,758,060
Ensembl chr13:88,946,091...89,225,708 		JBrowse link
G M Akt3 thymoma viral proto-oncogene 3 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr 1:176,847,642...177,091,688
Ensembl chr 1:176,847,639...177,085,769 		JBrowse link
G H AKT3 AKT serine/threonine kinase 3 IAGP ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079 		JBrowse link
G N Ccn1 cellular communication network factor 1 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:33587560 RGD:329845523 NCBI chrNW_004624742:11,882,815...11,885,686
Ensembl chrNW_004624742:11,882,907...11,885,667 		JBrowse link
G G CCN1 cellular communication network factor 1 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:33587560 RGD:329845523 NCBI chr20:47,783,270...47,786,216
Ensembl chr20:47,783,935...47,785,997 		JBrowse link
G P CCN1 cellular communication network factor 1 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:33587560 RGD:329845523 NCBI chr 4:130,392,404...130,395,179
Ensembl chr 4:130,392,407...130,395,150 		JBrowse link
G S Ccn1 cellular communication network factor 1 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:33587560 RGD:329845523 NCBI chrNW_004936608:152,174...155,123
Ensembl chrNW_004936608:151,838...155,358 		JBrowse link
G D CCN1 cellular communication network factor 1 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:33587560 RGD:329845523 NCBI chr 6:62,443,285...62,446,246
Ensembl chr 6:62,443,675...62,445,994 		JBrowse link
G B CCN1 cellular communication network factor 1 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:33587560 RGD:329845523 NCBI chr 1:118,138,739...118,141,681
Ensembl chr 1:86,994,296...86,997,147 		JBrowse link
G C Ccn1 cellular communication network factor 1 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:33587560 RGD:329845523 NCBI chrNW_004955423:8,416,498...8,419,029
Ensembl chrNW_004955423:8,413,725...8,419,166 		JBrowse link
G R Ccn1 cellular communication network factor 1 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:33587560 RGD:329845523 NCBI chr 2:237,222,730...237,225,689
Ensembl chr 2:234,562,408...234,565,484 		JBrowse link
G M Ccn1 cellular communication network factor 1 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:33587560 RGD:329845523 NCBI chr 3:145,352,726...145,355,740
Ensembl chr 3:145,352,731...145,355,736 		JBrowse link
G H CCN1 cellular communication network factor 1 disease_progression IEP mRNA:increased expression:skin (human) RGD PMID:33587560 RGD:329845523 NCBI chr 1:85,580,761...85,583,950
Ensembl chr 1:85,580,761...85,584,589 		JBrowse link
G N Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chrNW_004624770:8,592,473...8,642,063
Ensembl chrNW_004624770:8,592,457...8,641,843 		JBrowse link
G G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chr18:56,956,557...57,007,951
Ensembl chr18:56,956,174...57,007,474 		JBrowse link
G P NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chr 6:108,403,126...108,450,486
Ensembl chr 6:108,402,879...108,450,990 		JBrowse link
G S Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chrNW_004936550:2,983,172...3,032,222
Ensembl chrNW_004936550:2,980,442...3,032,229 		JBrowse link
G D NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chr 7:64,764,941...64,802,507
Ensembl chr 7:64,760,121...64,802,902 		JBrowse link
G B NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623 		JBrowse link
G C Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chrNW_004955402:11,699,434...11,742,899
Ensembl chrNW_004955402:11,699,434...11,742,899 		JBrowse link
G R Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chr18:3,654,237...3,699,853
Ensembl chr18:3,379,482...3,425,049 		JBrowse link
G M Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457 		JBrowse link
G H NPC1 NPC intracellular cholesterol transporter 1 IAGP ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506 		JBrowse link
cerebellar angioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... NCBI chrNW_004624731:5,350,912...5,359,286 JBrowse link
G G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... NCBI chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428 		JBrowse link
G P VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654 		JBrowse link
G S Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... NCBI chrNW_004936602:3,135,790...3,140,622 JBrowse link
G D VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323 		JBrowse link
G B VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234 		JBrowse link
G C Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... NCBI chrNW_004955561:1,573,525...1,578,295
Ensembl chrNW_004955561:1,573,525...1,580,511 		JBrowse link
G R Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377 		JBrowse link
G M Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594 		JBrowse link
G H VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: Cerebellar hemangioblastoma 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...10,153,676 		JBrowse link
chondroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P H3-3B H3.3 histone B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr12:5,632,326...5,634,977
Ensembl chr12:5,632,365...5,634,726 		JBrowse link
G H H3-3B H3.3 histone B EXP CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr17:75,776,434...75,779,779
Ensembl chr17:75,776,434...75,785,893 		JBrowse link
G C H3f3b H3 histone, family 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chrNW_004955506:6,475,336...6,478,781
Ensembl chrNW_004955506:6,474,727...6,482,244 		JBrowse link
G R H3f3b H3.3 histone B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr10:101,755,404...101,764,616
Ensembl chr10:101,256,480...101,258,709
Ensembl chr13:101,256,480...101,258,709 		JBrowse link
G M H3f3b H3.3 histone B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr11:115,912,787...115,921,313
Ensembl chr11:115,912,738...115,918,788 		JBrowse link
G B LOC100988671 histone H3.3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr17:69,728,165...69,730,519
Ensembl chr17:75,277,614...75,281,106 		JBrowse link
G N LOC101698172 histone H3.3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chrNW_004624801:5,668,661...5,672,164 JBrowse link
G S LOC101963257 histone H3.3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chrNW_004936594:959,493...961,703
Ensembl chrNW_004936594:958,049...961,708 		JBrowse link
G G LOC103243033 histone H3.3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr16:45,903,252...45,905,605
Ensembl chr16:45,902,980...45,904,929 		JBrowse link
hemangioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Cxcr4 C-X-C motif chemokine receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chrNW_004624732:35,473,740...35,477,482
Ensembl chrNW_004624732:35,472,760...35,477,528 		JBrowse link
G G CXCR4 C-X-C motif chemokine receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr10:20,336,470...20,340,308
Ensembl chr10:20,336,247...20,340,309 		JBrowse link
G P CXCR4 C-X-C motif chemokine receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,232 		JBrowse link
G S Cxcr4 C-X-C motif chemokine receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chrNW_004936469:39,794,613...39,798,448
Ensembl chrNW_004936469:39,794,584...39,798,459 		JBrowse link
G D CXCR4 C-X-C motif chemokine receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740 		JBrowse link
G B CXCR4 C-X-C motif chemokine receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647 		JBrowse link
G C Cxcr4 C-X-C motif chemokine receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chrNW_004955440:3,456,165...3,460,024
Ensembl chrNW_004955440:3,455,153...3,460,109 		JBrowse link
G R Cxcr4 C-X-C motif chemokine receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr13:42,630,383...42,634,288
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G M Cxcr4 C-X-C motif chemokine receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030 		JBrowse link
G H CXCR4 C-X-C motif chemokine receptor 4 IEP mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177 		JBrowse link
G N Dll4 delta like canonical Notch ligand 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chrNW_004624804:8,179,729...8,189,001
Ensembl chrNW_004624804:8,179,731...8,191,284 		JBrowse link
G G DLL4 delta like canonical Notch ligand 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr26:42,056,473...42,066,283
Ensembl chr26:42,056,331...42,065,828 		JBrowse link
G P DLL4 delta like canonical Notch ligand 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411 		JBrowse link
G S Dll4 delta like canonical Notch ligand 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chrNW_004936471:4,320,235...4,330,251
Ensembl chrNW_004936471:4,320,933...4,330,253 		JBrowse link
G D DLL4 delta like canonical Notch ligand 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr30:8,059,463...8,068,742
Ensembl chr30:8,059,512...8,067,940 		JBrowse link
G B DLL4 delta like canonical Notch ligand 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471 		JBrowse link
G C Dll4 delta like canonical Notch ligand 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chrNW_004955416:7,807,049...7,816,346
Ensembl chrNW_004955416:7,807,049...7,817,420 		JBrowse link
G R Dll4 delta like canonical Notch ligand 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 3:126,770,945...126,780,769
Ensembl chr 3:106,316,986...106,326,931 		JBrowse link
G M Dll4 delta like canonical Notch ligand 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443 		JBrowse link
G H DLL4 delta like canonical Notch ligand 4 IEP mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073 		JBrowse link
G N Hey1 hes related family bHLH transcription factor with YRPW motif 1 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chrNW_004624744:11,462,865...11,466,559
Ensembl chrNW_004624744:11,462,847...11,467,870 		JBrowse link
G G HEY1 hes related family bHLH transcription factor with YRPW motif 1 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 8:75,225,081...75,228,941
Ensembl chr 8:75,224,769...75,228,896 		JBrowse link
G P HEY1 hes related family bHLH transcription factor with YRPW motif 1 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 4:56,859,640...56,863,807
Ensembl chr 4:56,859,663...56,863,788 		JBrowse link
G S Hey1 hes related family bHLH transcription factor with YRPW motif 1 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chrNW_004936871:666,961...670,910
Ensembl chrNW_004936871:666,938...670,916 		JBrowse link
G D HEY1 hes related family bHLH transcription factor with YRPW motif 1 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr29:27,185,191...27,188,121
Ensembl chr29:27,185,191...27,188,121 		JBrowse link
G B HEY1 hes related family bHLH transcription factor with YRPW motif 1 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 8:76,286,433...76,290,507
Ensembl chr 8:77,913,761...77,921,201 		JBrowse link
G C Hey1 hes related family bHLH transcription factor with YRPW motif 1 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chrNW_004955444:1,498,444...1,502,099
Ensembl chrNW_004955444:1,498,675...1,500,945 		JBrowse link
G R Hey1 hes-related family bHLH transcription factor with YRPW motif 1 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 2:95,003,935...95,006,457
Ensembl chr 2:93,095,498...93,100,312 		JBrowse link
G M Hey1 hairy/enhancer-of-split related with YRPW motif 1 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 3:8,728,419...8,732,098
Ensembl chr 3:8,728,419...8,732,316 		JBrowse link
G H HEY1 hes related family bHLH transcription factor with YRPW motif 1 IEP mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 8:79,764,010...79,767,767
Ensembl chr 8:79,762,371...79,767,857 		JBrowse link
G N Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chrNW_004624734:39,414,458...39,471,705
Ensembl chrNW_004624734:39,411,824...39,471,705 		JBrowse link
G G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288 		JBrowse link
G P HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845 		JBrowse link
G S Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chrNW_004936495:5,770,988...5,816,157
Ensembl chrNW_004936495:5,770,669...5,816,157 		JBrowse link
G D HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692 		JBrowse link
G B HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885 		JBrowse link
G C Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chrNW_004955466:8,000,311...8,022,497
Ensembl chrNW_004955466:8,000,044...8,022,497 		JBrowse link
G R Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G M Hif1a hypoxia inducible factor 1, alpha subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304 		JBrowse link
G H HIF1A hypoxia inducible factor 1 subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259 		JBrowse link
G N Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chrNW_004624735:22,734,365...22,782,247
Ensembl chrNW_004624735:22,734,228...22,782,347 		JBrowse link
G G NDRG1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 8:127,668,012...127,727,918
Ensembl chr 8:127,667,981...127,719,011 		JBrowse link
G P NDRG1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 4:8,014,445...8,069,335
Ensembl chr 4:8,014,446...8,069,335 		JBrowse link
G S Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chrNW_004936470:16,051,291...16,102,563
Ensembl chrNW_004936470:16,051,015...16,102,585 		JBrowse link
G D NDRG1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr13:29,689,294...29,745,964
Ensembl chr13:29,650,444...29,746,382 		JBrowse link
G B NDRG1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514 		JBrowse link
G C Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chrNW_004955461:7,787,068...7,836,380
Ensembl chrNW_004955461:7,786,850...7,836,922 		JBrowse link
G R Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 7:100,573,526...100,614,902
Ensembl chr 7:98,684,487...98,725,880 		JBrowse link
G M Ndrg1 N-myc downstream regulated gene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr15:66,801,167...66,841,490
Ensembl chr15:66,801,167...66,841,489 		JBrowse link
G H NDRG1 N-myc downstream regulated 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022 		JBrowse link
G N Notch4 notch receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chrNW_004624754:24,108,661...24,128,053 JBrowse link
G G NOTCH4 notch receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr17:39,806,864...39,837,101
Ensembl chr17:39,808,035...39,837,365 		JBrowse link
G P NOTCH4 notch receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281 		JBrowse link
G S Notch4 notch receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chrNW_004936727:1,386,842...1,409,823 JBrowse link
G D NOTCH4 notch receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr12:1,585,249...1,608,721
Ensembl chr12:1,587,918...1,607,760 		JBrowse link
G B NOTCH4 notch receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978 		JBrowse link
G C Notch4 notch receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chrNW_004955437:658,076...679,338 JBrowse link
G R Notch4 notch receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr20:4,164,969...4,189,072
Ensembl chr20:4,160,445...4,184,465 		JBrowse link
G M Notch4 notch 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr17:34,783,257...34,807,517
Ensembl chr17:34,783,242...34,807,477 		JBrowse link
G H NOTCH4 notch receptor 4 IEP mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067 		JBrowse link
Infantile Capillary Hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Antxr1 ANTXR cell adhesion molecule 1 susceptibility ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar
OMIM		 PMID:18931684 PMID:25741868 PMID:28492532 NCBI chrNW_004624762:4,051,479...4,377,237
Ensembl chrNW_004624762:4,128,127...4,377,278 		JBrowse link
G G ANTXR1 ANTXR cell adhesion molecule 1 susceptibility ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar
OMIM		 PMID:18931684 PMID:25741868 PMID:28492532 NCBI chr14:37,849,911...38,116,339
Ensembl chr14:37,877,436...38,115,938 		JBrowse link
G P ANTXR1 ANTXR cell adhesion molecule 1 susceptibility ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar
OMIM		 PMID:18931684 PMID:25741868 PMID:28492532 NCBI chr 3:73,157,744...73,398,379
Ensembl chr 3:73,157,747...73,398,379 		JBrowse link
G S Antxr1 ANTXR cell adhesion molecule 1 susceptibility ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar
OMIM		 PMID:18931684 PMID:25741868 PMID:28492532 NCBI chrNW_004936491:13,288,986...13,516,878
Ensembl chrNW_004936491:13,288,717...13,516,984 		JBrowse link
G D ANTXR1 ANTXR cell adhesion molecule 1 susceptibility ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar
OMIM		 PMID:18931684 PMID:25741868 PMID:28492532 NCBI chr10:67,829,573...68,021,368
Ensembl chr10:67,829,225...68,019,127 		JBrowse link
G B ANTXR1 ANTXR cell adhesion molecule 1 susceptibility ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar
OMIM		 PMID:18931684 PMID:25741868 PMID:28492532 NCBI chr2A:69,054,253...69,290,554
Ensembl chr2A:70,175,982...70,412,454 		JBrowse link
G C Antxr1 ANTXR cell adhesion molecule 1 susceptibility ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar
OMIM		 PMID:18931684 PMID:25741868 PMID:28492532 NCBI chrNW_004955424:15,820,734...16,034,278
Ensembl chrNW_004955424:15,824,435...16,033,946 		JBrowse link
G R Antxr1 ANTXR cell adhesion molecule 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Capillary infantile hemangioma		 CTD
OMIM
ClinVar		 PMID:18931684 PMID:25741868 PMID:28492532 NCBI chr 4:121,148,102...121,335,549
Ensembl chr 4:119,590,771...119,778,232 		JBrowse link
G M Antxr1 anthrax toxin receptor 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Capillary infantile hemangioma		 CTD
OMIM
ClinVar		 PMID:18931684 PMID:25741868 PMID:28492532 NCBI chr 6:87,110,835...87,312,757
Ensembl chr 6:87,110,835...87,312,803 		JBrowse link
G H ANTXR1 ANTXR cell adhesion molecule 1 susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Capillary infantile hemangioma
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:18931684 PMID:25741868 PMID:28492532 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327 		JBrowse link
G N Ccnh cyclin H ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chrNW_004624743:6,883,124...6,902,518
Ensembl chrNW_004624743:6,883,114...6,902,745 		JBrowse link
G G CCNH cyclin H ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 4:81,373,812...81,392,454
Ensembl chr 4:81,373,994...81,392,326 		JBrowse link
G P CCNH cyclin H ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 2:94,980,938...95,019,053
Ensembl chr 2:94,980,941...95,018,634 		JBrowse link
G S Ccnh cyclin H ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chrNW_004936469:5,933,163...5,952,190
Ensembl chrNW_004936469:5,935,131...5,952,460 		JBrowse link
G D CCNH cyclin H ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 3:21,046,477...21,067,305
Ensembl chr 3:21,046,472...21,178,315 		JBrowse link
G B CCNH cyclin H ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149 		JBrowse link
G C Ccnh cyclin H ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chrNW_004955418:23,790,398...23,807,509
Ensembl chrNW_004955418:23,790,001...23,807,702 		JBrowse link
G R Ccnh cyclin H ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 2:17,570,449...17,591,078
Ensembl chr 2:15,834,833...15,855,819 		JBrowse link
G M Ccnh cyclin H ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr13:85,337,504...85,361,850
Ensembl chr13:85,337,527...85,371,588 		JBrowse link
G H CCNH cyclin H IAGP ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 5:87,311,471...87,412,930
Ensembl chr 5:87,318,416...87,413,029 		JBrowse link
G N Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624777:6,095,166...6,293,142
Ensembl chrNW_004624777:6,095,643...6,292,980 		JBrowse link
G G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:72,498,182...72,686,607
Ensembl chr 7:72,500,264...72,685,546 		JBrowse link
G P FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:99,141,967...99,312,131
Ensembl chr 8:99,148,496...99,310,519 		JBrowse link
G S Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936662:3,537,917...3,704,012
Ensembl chrNW_004936662:3,537,925...3,690,877 		JBrowse link
G D FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY ClinVar PMID:25741868 PMID:28492532 NCBI chr19:15,157,595...15,332,821
Ensembl chr19:15,158,922...15,332,045 		JBrowse link
G B FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407 		JBrowse link
G C Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955428:15,621,333...15,812,167
Ensembl chrNW_004955428:15,622,498...15,810,896 		JBrowse link
G R Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:123,855,289...123,984,716
Ensembl chr 2:121,927,942...122,056,707 		JBrowse link
G M Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:38,939,867...39,066,134
Ensembl chr 3:38,941,089...39,066,134 		JBrowse link
G H FAT4 FAT atypical cadherin 4 IAGP ClinVar Annotator: match by term: Capillary infantile hemangioma
ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G N Flt4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY OMIM
ClinVar		 PMID:11807987 PMID:25741868 PMID:28492532 NCBI chrNW_004624733:43,203,311...43,238,664
Ensembl chrNW_004624733:43,204,651...43,238,674 		JBrowse link
G G FLT4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY OMIM
ClinVar		 PMID:11807987 PMID:25741868 PMID:28492532 NCBI chr23:82,328,257...82,373,785
Ensembl chr23:82,328,258...82,357,044 		JBrowse link
G P FLT4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY OMIM
ClinVar		 PMID:11807987 PMID:25741868 PMID:28492532 NCBI chr 2:78,076,008...78,115,137
Ensembl chr 2:78,076,080...78,115,126 		JBrowse link
G S Flt4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY OMIM
ClinVar		 PMID:11807987 PMID:25741868 PMID:28492532 NCBI chrNW_004936739:240,572...281,925
Ensembl chrNW_004936739:236,510...281,729 		JBrowse link
G D FLT4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY OMIM
ClinVar		 PMID:11807987 PMID:25741868 PMID:28492532 NCBI chr11:1,145,643...1,184,097
Ensembl chr11:1,145,585...1,185,165 		JBrowse link
G B FLT4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY OMIM
ClinVar		 PMID:11807987 PMID:25741868 PMID:28492532 NCBI chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006 		JBrowse link
G C Flt4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY OMIM
ClinVar		 PMID:11807987 PMID:25741868 PMID:28492532 NCBI chrNW_004955408:98,995...137,922
Ensembl chrNW_004955408:107,056...140,056 		JBrowse link
G R Flt4 Fms related receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY		 OMIM
CTD
ClinVar		 PMID:11807987 PMID:25741868 PMID:28492532 NCBI chr10:34,414,834...34,455,878
Ensembl chr10:33,913,608...33,954,770 		JBrowse link
G M Flt4 FMS-like tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY		 OMIM
CTD
ClinVar		 PMID:11807987 PMID:25741868 PMID:28492532 NCBI chr11:49,500,506...49,543,566
Ensembl chr11:49,500,090...49,543,566 		JBrowse link
G H FLT4 fms related receptor tyrosine kinase 4 IAGP
EXP		 ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11807987 PMID:25741868 PMID:28492532 NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624 		JBrowse link
G N Kdr kinase insert domain receptor susceptibility ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: KDR-related condition ClinVar
OMIM		 PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 More... NCBI chrNW_004624761:14,330,224...14,380,680
Ensembl chrNW_004624761:14,330,489...14,379,051 		JBrowse link
G G KDR kinase insert domain receptor susceptibility ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: KDR-related condition ClinVar
OMIM		 PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 More... NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771 		JBrowse link
G P KDR kinase insert domain receptor susceptibility ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: KDR-related condition ClinVar
OMIM		 PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 More... NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336 		JBrowse link
G S Kdr kinase insert domain receptor susceptibility ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: KDR-related condition ClinVar
OMIM		 PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 More... NCBI chrNW_004936482:17,537,697...17,581,320
Ensembl chrNW_004936482:17,538,864...17,581,002 		JBrowse link
G D KDR kinase insert domain receptor susceptibility ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: KDR-related condition ClinVar
OMIM		 PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 More... NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042 		JBrowse link
G B KDR kinase insert domain receptor susceptibility ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: KDR-related condition ClinVar
OMIM		 PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 More... NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109 		JBrowse link
G C Kdr kinase insert domain receptor susceptibility ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: KDR-related condition ClinVar
OMIM		 PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 More... NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583 		JBrowse link
G R Kdr kinase insert domain receptor susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: KDR-related condition		 CTD
OMIM
ClinVar		 PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 More... NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G M Kdr kinase insert domain protein receptor susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: KDR-related condition		 CTD
OMIM
ClinVar		 PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 More... NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
G H KDR kinase insert domain receptor susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Capillary infantile hemangioma
ClinVar Annotator: match by term: KDR-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 More... NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595 		JBrowse link
G N Myh9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:28492532 NCBI chrNW_004624752:11,327,881...11,414,037
Ensembl chrNW_004624752:11,327,877...11,413,669 		JBrowse link
G G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:28492532 NCBI chr19:18,985,709...19,093,304
Ensembl chr19:18,986,598...19,052,671 		JBrowse link
G P MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:28492532 NCBI chr 5:11,365,603...11,456,475
Ensembl chr 5:11,360,660...11,456,472 		JBrowse link
G S Myh9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:28492532 NCBI chrNW_004936492:4,384,215...4,466,229
Ensembl chrNW_004936492:4,384,215...4,466,262 		JBrowse link
G D MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:28492532 NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953 		JBrowse link
G B MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:28492532 NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618 		JBrowse link
G C Myh9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:28492532 NCBI chrNW_004955413:22,881,759...22,972,182
Ensembl chrNW_004955413:22,881,045...22,972,450 		JBrowse link
G R Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:28492532 NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
G M Myh9 myosin, heavy polypeptide 9, non-muscle ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:28492532 NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375 		JBrowse link
G H MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:28492532 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G N Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chrNW_004624743:6,750,476...6,882,556
Ensembl chrNW_004624743:6,788,108...6,882,223 		JBrowse link
G G RASA1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 4:81,249,851...81,371,486
Ensembl chr 4:81,249,805...81,370,453 		JBrowse link
G P RASA1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 2:94,879,615...94,992,725
Ensembl chr 2:94,878,911...94,993,450 		JBrowse link
G S Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chrNW_004936469:5,839,560...5,933,049
Ensembl chrNW_004936469:5,839,743...5,932,021 		JBrowse link
G D RASA1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 3:21,068,182...21,177,288
Ensembl chr 3:21,054,930...21,176,757 		JBrowse link
G B RASA1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321 		JBrowse link
G C Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chrNW_004955418:23,807,740...23,897,699
Ensembl chrNW_004955418:23,807,740...23,897,707 		JBrowse link
G R Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 2:17,593,136...17,676,707
Ensembl chr 2:15,857,980...15,940,854 		JBrowse link
G M Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr13:85,362,893...85,437,487
Ensembl chr13:85,362,899...85,437,249 		JBrowse link
G H RASA1 RAS p21 protein activator 1 IAGP ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931 		JBrowse link
G N Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chrNW_004624892:2,110,310...2,148,023
Ensembl chrNW_004624892:2,117,561...2,148,037 		JBrowse link
G G SLC2A1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chr20:89,974,567...90,007,977
Ensembl chr20:90,002,030...90,008,033 		JBrowse link
G P SLC2A1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,535,440...168,560,867 		JBrowse link
G S Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chrNW_004936474:24,205,878...24,236,611
Ensembl chrNW_004936474:24,206,644...24,236,713 		JBrowse link
G D SLC2A1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140 		JBrowse link
G B SLC2A1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143 		JBrowse link
G C Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chrNW_004955537:2,408,042...2,438,788
Ensembl chrNW_004955537:2,408,042...2,439,511 		JBrowse link
G R Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G M Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chr 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180 		JBrowse link
G H SLC2A1 solute carrier family 2 member 1 IEP RGD PMID:17554865 RGD:12879502 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G N Vegfa vascular endothelial growth factor A disease_progression ISO RGD PMID:26957058 RGD:155663370 NCBI chrNW_004624754:15,929,414...15,943,637 JBrowse link
G G VEGFA vascular endothelial growth factor A disease_progression ISO RGD PMID:26957058 RGD:155663370 NCBI chr17:28,377,959...28,394,508 JBrowse link
G P VEGFA vascular endothelial growth factor A disease_progression ISO RGD PMID:26957058 RGD:155663370 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
G S Vegfa vascular endothelial growth factor A disease_progression ISO RGD PMID:26957058 RGD:155663370 NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673 		JBrowse link
G D VEGFA vascular endothelial growth factor A disease_progression ISO RGD PMID:26957058 RGD:155663370 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
G B VEGFA vascular endothelial growth factor A disease_progression ISO RGD PMID:26957058 RGD:155663370 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		JBrowse link
G C Vegfa vascular endothelial growth factor A disease_progression ISO RGD PMID:26957058 RGD:155663370 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G R Vegfa vascular endothelial growth factor A disease_progression ISO RGD PMID:26957058 RGD:155663370 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G M Vegfa vascular endothelial growth factor A disease_progression ISO RGD PMID:26957058 RGD:155663370 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G H VEGFA vascular endothelial growth factor A disease_progression IEP RGD PMID:26957058 RGD:155663370 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
ossifying fibroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Ossifying fibroma of the jaw ClinVar PMID:27658992 NCBI chrNW_004624814:298,015...460,314
Ensembl chrNW_004624814:299,444...460,391 		JBrowse link
G G CDC73 cell division cycle 73 ISO ClinVar Annotator: match by term: Ossifying fibroma of the jaw ClinVar PMID:27658992 NCBI chr25:36,167,482...36,302,918
Ensembl chr25:36,170,134...36,302,812 		JBrowse link
G P CDC73 cell division cycle 73 ISO ClinVar Annotator: match by term: Ossifying fibroma of the jaw ClinVar PMID:27658992 NCBI chr10:575,075...667,618
Ensembl chr10:575,075...667,432 		JBrowse link
G S Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Ossifying fibroma of the jaw ClinVar PMID:27658992 NCBI chrNW_004936638:1,365,457...1,482,497
Ensembl chrNW_004936638:1,365,648...1,483,277 		JBrowse link
G D CDC73 cell division cycle 73 ISO ClinVar Annotator: match by term: Ossifying fibroma of the jaw ClinVar PMID:27658992 NCBI chr38:5,826,209...5,937,930
Ensembl chr38:5,805,916...5,938,111 		JBrowse link
G B CDC73 cell division cycle 73 ISO ClinVar Annotator: match by term: Ossifying fibroma of the jaw ClinVar PMID:27658992 NCBI chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934 		JBrowse link
G C Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Ossifying fibroma of the jaw ClinVar PMID:27658992 NCBI chrNW_004955406:30,533,919...30,665,812
Ensembl chrNW_004955406:30,533,060...30,665,812 		JBrowse link
G R Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Ossifying fibroma of the jaw ClinVar PMID:27658992 NCBI chr13:57,897,924...58,000,031
Ensembl chr13:55,357,226...55,449,656 		JBrowse link
G M Cdc73 cell division cycle 73, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Ossifying fibroma of the jaw ClinVar PMID:27658992 NCBI chr 1:143,479,014...143,578,631
Ensembl chr 1:143,474,538...143,578,631 		JBrowse link
G H 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
pulmonary venoocclusive disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis ClinVar PMID:18626305 PMID:24292273 NCBI chrNW_004624765:13,849,689...13,950,839
Ensembl chrNW_004624765:13,857,062...13,947,683 		JBrowse link
G G BMPR2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis ClinVar PMID:18626305 PMID:24292273 NCBI chr10:88,103,442...88,302,578
Ensembl chr10:88,106,072...88,303,734 		JBrowse link
G P BMPR2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis ClinVar PMID:18626305 PMID:24292273 NCBI chr15:105,971,577...106,132,496
Ensembl chr15:105,970,428...106,135,730 		JBrowse link
G S Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis ClinVar PMID:18626305 PMID:24292273 NCBI chrNW_004936726:1,543,263...1,711,422
Ensembl chrNW_004936726:1,543,245...1,704,541 		JBrowse link
G D BMPR2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis ClinVar PMID:18626305 PMID:24292273 NCBI chr37:11,342,292...11,540,199
Ensembl chr37:11,342,384...11,533,024 		JBrowse link
G B BMPR2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis ClinVar PMID:18626305 PMID:24292273 NCBI chr2B:89,631,622...89,823,438
Ensembl chr2B:207,780,741...207,961,072 		JBrowse link
G C Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis ClinVar PMID:18626305 PMID:24292273 NCBI chrNW_004955457:12,235,780...12,315,680
Ensembl chrNW_004955457:12,235,780...12,316,727 		JBrowse link
G R Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis ClinVar PMID:18626305 PMID:24292273 NCBI chr 9:68,685,942...68,801,353
Ensembl chr 9:61,190,566...61,301,809 		JBrowse link
G M Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis ClinVar PMID:18626305 PMID:24292273 NCBI chr 1:59,802,721...59,917,240
Ensembl chr 1:59,802,559...59,918,173 		JBrowse link
G H BMPR2 bone morphogenetic protein receptor type 2 IAGP ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis ClinVar PMID:18626305 PMID:24292273 NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751 		JBrowse link
G N Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis OMIM
ClinVar		 PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 More... NCBI chrNW_004624804:7,262,195...7,371,506
Ensembl chrNW_004624804:7,262,163...7,376,267 		JBrowse link
G G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis OMIM
ClinVar		 PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 More... NCBI chr26:42,966,095...43,072,083
Ensembl chr26:42,962,447...43,072,001 		JBrowse link
G P EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis OMIM
ClinVar		 PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 More... NCBI chr 1:131,244,818...131,355,240
Ensembl chr 1:131,245,466...131,355,226 		JBrowse link
G S Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis OMIM
ClinVar		 PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 More... NCBI chrNW_004936471:3,423,792...3,527,089
Ensembl chrNW_004936471:3,423,813...3,526,913 		JBrowse link
G D EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis OMIM
ClinVar		 PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 More... NCBI chr30:7,144,727...7,248,014
Ensembl chr30:7,144,570...7,248,000 		JBrowse link
G B EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis OMIM
ClinVar		 PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 More... NCBI chr15:18,871,867...18,973,380
Ensembl chr15:37,120,044...37,229,211 		JBrowse link
G C Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis OMIM
ClinVar		 PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 More... NCBI chrNW_004955416:6,897,897...7,005,602
Ensembl chrNW_004955416:6,897,848...7,009,965 		JBrowse link
G R Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis OMIM
ClinVar		 PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 More... NCBI chr 3:125,810,207...125,895,574
Ensembl chr 3:105,356,261...105,441,630 		JBrowse link
G M Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis OMIM
ClinVar		 PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 More... NCBI chr 2:118,219,065...118,305,715
Ensembl chr 2:118,219,099...118,305,715 		JBrowse link
G H EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 IAGP ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis OMIM
ClinVar		 PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 More... NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591 		JBrowse link
G H LOC130056813 ATAC-STARR-seq lymphoblastoid silent region 6314 IAGP ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis
ClinVar Annotator: match by term: EIF2AK4-related condition		 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:39,933,988...39,934,397 JBrowse link
von Hippel-Lindau disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:4,679,060...4,685,892
Ensembl chrNW_004624731:4,678,731...4,687,617 		JBrowse link
G G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr22:46,157,063...46,169,833
Ensembl chr22:46,156,652...46,170,546 		JBrowse link
G P BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr13:66,315,438...66,324,641
Ensembl chr13:66,315,315...66,324,641 		JBrowse link
G S Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chrNW_004936602:3,147,773...3,155,739
Ensembl chrNW_004936602:3,148,567...3,155,736 		JBrowse link
G D BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr20:8,220,109...8,231,337
Ensembl chr20:8,221,575...8,231,258 		JBrowse link
G B BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 3:10,051,054...10,062,364
Ensembl chr 3:10,403,896...10,415,545 		JBrowse link
G C Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chrNW_004955561:1,545,921...1,554,423
Ensembl chrNW_004955561:1,545,576...1,554,618 		JBrowse link
G R Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 4:148,306,436...148,321,668
Ensembl chr 4:146,750,821...146,768,856 		JBrowse link
G M Brk1 BRICK1, SCAR/WAVE actin-nucleating complex subunit ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 6:113,581,733...113,593,912
Ensembl chr 6:113,581,733...113,593,912 		JBrowse link
G H BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 3:10,115,675...10,127,190
Ensembl chr 3:10,115,675...10,127,190 		JBrowse link
G N Ccnd1 cyclin D1 susceptibility ISO ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF ClinVar
OMIM		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191 		JBrowse link
G G CCND1 cyclin D1 susceptibility ISO ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF ClinVar
OMIM		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357 		JBrowse link
G P CCND1 cyclin D1 susceptibility ISO ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF ClinVar
OMIM		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296 		JBrowse link
G S Ccnd1 cyclin D1 susceptibility ISO ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF ClinVar
OMIM		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... Ensembl chrNW_004936599:973,838...983,316 JBrowse link
G D CCND1 cyclin D1 susceptibility ISO ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF ClinVar
OMIM		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005 		JBrowse link
G B CCND1 cyclin D1 susceptibility ISO ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF ClinVar
OMIM		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI chr11:64,737,006...64,750,353 JBrowse link
G C Ccnd1 cyclin D1 susceptibility ISO ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF ClinVar
OMIM		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300 		JBrowse link
G R Ccnd1 cyclin D1 susceptibility ISO ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G M Ccnd1 cyclin D1 susceptibility ISO ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662 		JBrowse link
G H CCND1 cyclin D1 susceptibility IAGP
EXP		 ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G N Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chrNW_004624738:27,747,770...27,831,213
Ensembl chrNW_004624738:27,747,696...27,834,054 		JBrowse link
G G EPAS1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr14:60,823,110...60,912,804
Ensembl chr14:60,822,815...60,912,785 		JBrowse link
G P EPAS1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr 3:94,167,759...94,253,662
Ensembl chr 3:94,165,816...94,254,079 		JBrowse link
G S Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chrNW_004936508:5,855,748...5,938,879
Ensembl chrNW_004936508:5,855,732...5,938,856 		JBrowse link
G D EPAS1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr10:48,550,836...48,636,776
Ensembl chr10:48,551,410...48,634,844 		JBrowse link
G B EPAS1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560 		JBrowse link
G C Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chrNW_004955441:13,244,626...13,328,220
Ensembl chrNW_004955441:13,244,626...13,328,369 		JBrowse link
G R Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr 6:13,543,252...13,626,147
Ensembl chr 6:7,790,647...7,871,228 		JBrowse link
G M Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr17:87,061,292...87,140,838
Ensembl chr17:87,061,128...87,140,838 		JBrowse link
G H EPAS1 endothelial PAS domain protein 1 IEP protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697 		JBrowse link
G N Irak2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:5,294,464...5,348,426
Ensembl chrNW_004624731:5,294,431...5,348,481 		JBrowse link
G G IRAK2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr22:46,204,600...46,279,863
Ensembl chr22:46,204,893...46,278,260 		JBrowse link
G P IRAK2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr13:66,350,606...66,416,834
Ensembl chr13:66,350,606...66,416,827 		JBrowse link
G S Irak2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chrNW_004936602:3,073,910...3,129,344
Ensembl chrNW_004936602:3,073,889...3,129,408 		JBrowse link
G D IRAK2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr20:8,133,987...8,197,009
Ensembl chr20:8,134,970...8,196,910 		JBrowse link
G B IRAK2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 3:10,100,279...10,179,487
Ensembl chr 3:10,453,329...10,532,629 		JBrowse link
G C Irak2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chrNW_004955561:1,585,842...1,650,268
Ensembl chrNW_004955561:1,585,827...1,653,197 		JBrowse link
G R Irak2 interleukin-1 receptor-associated kinase 2 ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 4:148,341,704...148,398,211
Ensembl chr 4:146,786,100...146,842,602 		JBrowse link
G M Irak2 interleukin-1 receptor-associated kinase 2 ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 6:113,615,428...113,671,987
Ensembl chr 6:113,615,428...113,671,987 		JBrowse link
G H IRAK2 interleukin 1 receptor associated kinase 2 IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 3:10,164,919...10,243,745
Ensembl chr 3:10,164,919...10,243,745 		JBrowse link
G H LOC107303339 3p25 BRK1 Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 3:10,120,032...10,138,833 JBrowse link
G H LOC107303340 3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome		 ClinVar PMID:982991 PMID:1056348 PMID:2844285 PMID:4843792 PMID:7553625 More... NCBI chr 3:10,142,339...10,160,352 JBrowse link
G N Mmp3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chrNW_004624878:39,282...47,386
Ensembl chrNW_004624878:39,358...47,075 		JBrowse link
G G MMP3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr 1:94,216,156...94,224,437
Ensembl chr 1:94,216,173...94,224,264 		JBrowse link
G P MMP3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,446,836...33,454,000 		JBrowse link
G D MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222 		JBrowse link
G B MMP3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354 		JBrowse link
G R Mmp3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G M Mmp3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975 		JBrowse link
G H MMP3 matrix metallopeptidase 3 onset IAGP RGD PMID:19551141 RGD:7241233 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609 		JBrowse link
G N Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More... NCBI chrNW_004624764:2,655,138...2,679,138
Ensembl chrNW_004624764:2,650,604...2,679,005 		JBrowse link
G G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More... NCBI chr20:115,537,880...115,571,150
Ensembl chr20:115,538,026...115,571,142 		JBrowse link
G P SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More... NCBI chr 6:75,648,362...75,678,111
Ensembl chr 6:75,648,215...75,678,378 		JBrowse link
G S Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More... NCBI chrNW_004936474:3,993,224...4,021,359
Ensembl chrNW_004936474:3,990,778...4,021,423 		JBrowse link
G D SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More... NCBI chr 2:81,158,291...81,190,110
Ensembl chr 2:81,158,291...81,190,109 		JBrowse link
G B SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More... NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509 		JBrowse link
G C Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More... NCBI chrNW_004955527:1,769,280...1,792,496
Ensembl chrNW_004955527:1,768,940...1,792,361 		JBrowse link
G R Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More... NCBI chr 5:158,547,775...158,568,589
Ensembl chr 5:153,264,899...153,314,293 		JBrowse link
G M Sdhb succinate dehydrogenase complex, subunit B, iron sulfur (Ip) ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More... NCBI chr 4:140,688,582...140,706,509
Ensembl chr 4:140,688,514...140,706,504 		JBrowse link
G H SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More... NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G N Slc18a1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chrNW_004624758:15,863,410...15,894,958
Ensembl chrNW_004624758:15,864,204...15,894,529 		JBrowse link
G G SLC18A1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr 8:18,214,703...18,250,025
Ensembl chr 8:18,214,701...18,249,731 		JBrowse link
G P SLC18A1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr14:4,243,553...4,279,341
Ensembl chr14:4,243,557...4,275,243 		JBrowse link
G S Slc18a1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chrNW_004936555:4,249,821...4,271,379
Ensembl chrNW_004936555:4,249,821...4,271,379 		JBrowse link
G D SLC18A1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr25:36,859,047...36,904,057
Ensembl chr25:36,872,636...36,904,056 		JBrowse link
G B SLC18A1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr 8:19,369,843...19,408,412
Ensembl chr 8:16,318,744...16,353,708 		JBrowse link
G C Slc18a1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chrNW_004955403:43,821,978...43,848,403
Ensembl chrNW_004955403:43,821,296...43,848,399 		JBrowse link
G R Slc18a1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr16:25,408,485...25,453,786
Ensembl chr16:20,653,508...20,687,051 		JBrowse link
G M Slc18a1 solute carrier family 18 (vesicular monoamine), member 1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr 8:69,490,360...69,547,951
Ensembl chr 8:69,490,363...69,541,887 		JBrowse link
G H SLC18A1 solute carrier family 18 member A1 IEP mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr 8:20,144,855...20,183,136
Ensembl chr 8:20,144,855...20,183,206 		JBrowse link
G N Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome OMIM
ClinVar		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 More... NCBI chrNW_004624731:5,350,912...5,359,286 JBrowse link
G G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome OMIM
ClinVar		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 More... NCBI chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428 		JBrowse link
G P VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome OMIM
ClinVar		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 More... NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654 		JBrowse link
G S Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome OMIM
ClinVar		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 More... NCBI chrNW_004936602:3,135,790...3,140,622 JBrowse link
G D VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome OMIM
ClinVar		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 More... NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323 		JBrowse link
G B VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome OMIM
ClinVar		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 More... NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234 		JBrowse link
G C Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome OMIM
ClinVar		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 More... NCBI chrNW_004955561:1,573,525...1,578,295
Ensembl chrNW_004955561:1,573,525...1,580,511 		JBrowse link
G R Vhl von Hippel-Lindau tumor suppressor ISO
ISS		 ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
OMIM:193300
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 More... NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377 		JBrowse link
G M Vhl von Hippel-Lindau tumor suppressor ISO
IAGP		 ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
OMIM:193300
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 More... NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594 		JBrowse link
G H VHL von Hippel-Lindau tumor suppressor IAGP
ISS
EXP		 ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
OMIM:193300
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 More... NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      musculoskeletal system disease 96321
        bone disease 49930
          bone benign neoplasm 310
            benign giant cell tumor + 10
            bone ameloblastoma 0
            bone epithelioid hemangioma 0
            capillary hemangioma + 281
            chondroblastoma 9
            chondromyxoid fibroma 0
            fibroosseous pseudotumor of digits 0
            granular cell tumor of the sellar region 0
            lumbosacral lipoma 0
            melanotic neuroectodermal tumor 0
            ossifying fibroma 10
            osteoblastoma 0
            phalanx chondroma 0
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        peripheral nervous system disease 45985
          neuropathy 43737
            neuromuscular disease 33680
              muscular disease 23373
                muscle tissue disease 14455
                  Muscle Tissue Neoplasms 2411
                    musculoskeletal system benign neoplasm 1837
                      connective tissue benign neoplasm 1336
                        bone benign neoplasm 310
                          benign giant cell tumor + 10
                          bone ameloblastoma 0
                          bone epithelioid hemangioma 0
                          capillary hemangioma + 281
                          chondroblastoma 9
                          chondromyxoid fibroma 0
                          fibroosseous pseudotumor of digits 0
                          granular cell tumor of the sellar region 0
                          lumbosacral lipoma 0
                          melanotic neuroectodermal tumor 0
                          ossifying fibroma 10
                          osteoblastoma 0
                          phalanx chondroma 0
paths to the root