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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Neoplasm of the liver
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Accession:HP:0002896 term browser browse the term
Definition:A tumor (abnormal growth of tissue) of the liver.
Synonyms:exact_synonym: Liver cancer;   Liver tumor;   Liver tumour;   liver neoplasm
 xref: EFO:1001513;   MESH:D008113;   NCI:C3262;   SNOMEDCT_US:126851005;   SNOMEDCT_US:93870000;   UMLS:C0023903;   UMLS:C0345904



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Neoplasm of the liver term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 IAGP HPO ORPHA:69663 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: Neoplasm of the liver ClinVar PMID:16569251 PMID:18199528 PMID:21859464 PMID:22703879 PMID:23159591 More... NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
JBrowse link
G AXIN1 axin 1 disease_progression IAGP associated with Hepatitis B, Chronic,DNA:SNP, haplotype:exon:(rs1805105) T>C (human) RGD PMID:26968103 RGD:14402039 NCBI chr16:287,440...352,723
Ensembl chr16:287,440...352,723
JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:1333 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:1333 ORPHA:654 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO ORPHA:1454 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:1333 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G DAXX death domain associated protein exacerbates IAGP associated with neuroendocrine tumor;DNA:mutations:CDS:multiple RGD PMID:30342802 RGD:152025199 NCBI chr 6:33,318,558...33,322,959
Ensembl chr 6:33,318,558...33,323,016
JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 IAGP HPO ORPHA:654 NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350
JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP HPO ORPHA:144 NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601
JBrowse link
G FAN1 FANCD2 and FANCI associated nuclease 1 IAGP HPO ORPHA:144 NCBI chr15:30,903,852...30,943,108
Ensembl chr15:30,890,559...30,943,108
JBrowse link
G GPC3 glypican 3 IAGP HPO ORPHA:654 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100
JBrowse link
G H19 H19 imprinted maternally expressed transcript IAGP HPO ORPHA:654 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO ORPHA:1454 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:1333 ORPHA:144 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G MLH1 mutL homolog 1 IAGP HPO ORPHA:144 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896
JBrowse link
G MLH3 mutL homolog 3 IAGP HPO ORPHA:144 NCBI chr14:75,013,775...75,051,467
Ensembl chr14:75,013,769...75,051,532
JBrowse link
G MSH2 mutS homolog 2 IAGP HPO ORPHA:144 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146
JBrowse link
G MSH6 mutS homolog 6 IAGP HPO ORPHA:144 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063
JBrowse link
G NAB2 NGFI-A binding protein 2 IAGP HPO ORPHA:2126 NCBI chr12:57,089,114...57,095,476
Ensembl chr12:57,089,043...57,095,476
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO ORPHA:1333 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
JBrowse link
G PALLD palladin, cytoskeletal associated protein IAGP HPO ORPHA:1333 NCBI chr 4:168,497,052...168,928,441
Ensembl chr 4:168,497,052...168,928,457
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:144 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component IAGP HPO ORPHA:144 NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP HPO ORPHA:144 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130
JBrowse link
G POU6F2 POU class 6 homeobox 2 IAGP HPO ORPHA:654 NCBI chr 7:38,977,909...39,468,601
Ensembl chr 7:38,977,909...39,493,095
JBrowse link
G RABL3 RAB, member of RAS oncogene family like 3 IAGP HPO ORPHA:1333 NCBI chr 3:120,684,938...120,742,680
Ensembl chr 3:120,684,938...120,742,993
JBrowse link
G RAD52 RAD52 homolog, DNA repair protein susceptibility IAGP associated with hepatitis B;DNA:SNP:3'utr: (rs7963551) (human) RGD PMID:24729511 RGD:151361199 NCBI chr12:911,736...991,122
Ensembl chr12:911,736...990,053
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit IAGP HPO ORPHA:251636 NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
JBrowse link
G REST RE1 silencing transcription factor IAGP HPO ORPHA:654 NCBI chr 4:56,907,900...56,935,844
Ensembl chr 4:56,907,876...56,966,808
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO ORPHA:1454 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO ORPHA:1333 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP HPO ORPHA:77293 NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility IAGP Hepatitis B, Chronic; DNA:SNP: intron 3: (rs7574865) (human) RGD PMID:26745093 RGD:11553302 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G STAT6 signal transducer and activator of transcription 6 IAGP HPO ORPHA:2126 NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:144 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO ORPHA:1454 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:1333 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TRIM28 tripartite motif containing 28 IAGP HPO ORPHA:654 NCBI chr19:58,544,064...58,550,715
Ensembl chr19:58,544,064...58,550,722
JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO ORPHA:654 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357
JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:654 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
JBrowse link
G ZFTA zinc finger translocation associated IAGP HPO ORPHA:251636 NCBI chr11:63,759,892...63,768,775
Ensembl chr11:63,759,892...63,768,775
JBrowse link
Hepatic hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCND1 cyclin D1 IAGP HPO OMIM:193300 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G CREBBP CREB binding protein IAGP HPO OMIM:180849 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G EP300 E1A binding protein p300 IAGP HPO OMIM:180849 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G GJA4 gap junction protein alpha 4 IAGP ClinVar Annotator: match by term: Liver hemangioma ClinVar PMID:33912852 NCBI chr 1:34,792,999...34,795,747
Ensembl chr 1:34,792,999...34,795,747
JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP HPO OMIM:193300 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667
JBrowse link
Hepatoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar
HPO
PMID:1316610 PMID:8381579 PMID:8764128 PMID:9824584 PMID:15311282 More... OMIM:175100 ORPHA:261584 ORPHA:79665 ORPHA:99818 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar
HPO
PMID:26822237 ORPHA:1465 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP HPO ORPHA:1465 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
JBrowse link
G ARID2 AT-rich interaction domain 2 IAGP HPO ORPHA:1465 NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040
JBrowse link
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:11756177 PMID:16832357 PMID:17333338 PMID:19781682 PMID:20305132 More... NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,823...108,369,102
JBrowse link
G BARD1 BRCA1 associated RING domain 1 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:26467025 PMID:26580448 PMID:28492532 PMID:35264596 More... NCBI chr 2:214,725,646...214,809,683
Ensembl chr 2:214,725,646...214,809,683
JBrowse link
G BIVM-ERCC5 BIVM-ERCC5 readthrough IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr13:102,807,146...102,875,995
Ensembl chr13:102,799,110...102,875,994
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:9971877 PMID:10717622 PMID:15937982 PMID:17826769 PMID:19941162 More... NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G C11orf65 chromosome 11 open reading frame 65 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:21665257 PMID:25186627 PMID:25741868 PMID:26787654 PMID:28492532 More... NCBI chr11:108,308,519...108,469,881
Ensembl chr11:108,308,519...108,467,531
JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP HPO OMIM:130650 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 More... NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G CUX2 cut like homeobox 2 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:20404132 PMID:25741868 NCBI chr12:111,034,165...111,350,554
Ensembl chr12:111,034,165...111,350,554
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:12270273 PMID:15670717 PMID:16207203 PMID:16392899 PMID:23042628 More... NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 PMID:35495172 NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
JBrowse link
G DOCK8 dedicator of cytokinesis 8 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259
JBrowse link
G DPF2 double PHD fingers 2 IAGP HPO ORPHA:1465 NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262
JBrowse link
G DROSHA drosha ribonuclease III IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 5:31,400,494...31,532,093
Ensembl chr 5:31,400,494...31,532,196
JBrowse link
G DZIP1L DAZ interacting zinc finger protein 1 like IAGP HPO ORPHA:731 NCBI chr 3:138,061,990...138,115,608
Ensembl chr 3:138,061,990...138,115,818
JBrowse link
G EP300 E1A binding protein p300 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:24728327 PMID:25741868 PMID:28492532 PMID:29178624 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
JBrowse link
G FAH fumarylacetoacetate hydrolase IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946
JBrowse link
G FANCA FA complementation group A IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
JBrowse link
G FANCD2 FA complementation group D2 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 PMID:28678401 PMID:30306255 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
JBrowse link
G FANCD2OS FANCD2 opposite strand IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 3:10,081,320...10,108,457
Ensembl chr 3:10,081,317...10,108,255
JBrowse link
G FANCM FA complementation group M IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28678401 PMID:28881617 More... NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
JBrowse link
G FAS Fas cell surface death receptor IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 PMID:35495172 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FH fumarate hydratase IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
JBrowse link
G FLCN folliculin IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:35495172 NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188
JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FRMPD1 FERM and PDZ domain containing 1 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 9:37,603,229...37,746,904
Ensembl chr 9:37,650,954...37,746,904
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:12204005 PMID:21228398 PMID:23430543 PMID:25741868 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G GPC3 glypican 3 IAGP HPO OMIM:312870 ORPHA:373 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100
JBrowse link
G GPC4 glypican 4 IAGP HPO OMIM:312870 ORPHA:373 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489
JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP HPO OMIM:130650 NCBI chr11:1,998,202...2,003,509 JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO OMIM:130650 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
JBrowse link
G JMJD1C jumonji domain containing 1C IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP HPO OMIM:130650 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105
JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP HPO OMIM:130650 NCBI chr11:2,608,328...2,699,994
Ensembl chr11:2,597,308...2,700,003
JBrowse link
G KDR kinase insert domain receptor IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G LOC106627981 GBA recombination region IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:12204005 PMID:21228398 PMID:23430543 PMID:25741868 NCBI chr 1:155,233,639...155,240,092 JBrowse link
G LOC107303338 3p25 FANCD2 Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 PMID:28678401 PMID:30306255 NCBI chr 3:10,030,947...10,078,653 JBrowse link
G LOC126806658 BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 More... NCBI chr 3:41,224,408...41,225,607 JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:27666373 PMID:28492532 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
JBrowse link
G MSH2 mutS homolog 2 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146
JBrowse link
G MSH6 mutS homolog 6 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 PMID:35264596 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063
JBrowse link
G MUTYH mutY DNA glycosylase IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893
JBrowse link
G NDRG4 NDRG family member 4 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr16:58,463,715...58,515,387
Ensembl chr16:58,462,846...58,513,628
JBrowse link
G NYNRIN NYN domain and retroviral integrase containing IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr14:24,399,003...24,419,283
Ensembl chr14:24,399,003...24,419,283
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP HPO ORPHA:731 NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613
JBrowse link
G RECQL RecQ like helicase IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr12:21,468,910...21,501,635
Ensembl chr12:21,468,910...21,501,669
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G REN renin IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324
JBrowse link
G RHBDF2 rhomboid 5 homolog 2 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr17:76,470,893...76,501,427
Ensembl chr17:76,470,891...76,501,790
JBrowse link
G RPS19 ribosomal protein S19 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:12586610 PMID:25741868 PMID:28492532 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925
JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO OMIM:269150 ORPHA:798 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
JBrowse link
G SH2B3 SH2B adaptor protein 3 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:20404132 PMID:25741868 NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623
JBrowse link
G SKIC2 SKI2 subunit of superkiller complex IAGP HPO ORPHA:84064 NCBI chr 6:31,959,175...31,969,751
Ensembl chr 6:31,959,116...31,969,818
JBrowse link
G SKIC3 SKI3 subunit of superkiller complex IAGP HPO ORPHA:84064 NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050
JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO OMIM:232240 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP HPO ORPHA:1465 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP HPO ORPHA:1465 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
JBrowse link
G SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 IAGP HPO ORPHA:1465 NCBI chr12:56,162,359...56,189,483
Ensembl chr12:56,162,359...56,189,567
JBrowse link
G SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 IAGP HPO ORPHA:1465 NCBI chr12:50,085,342...50,100,707
Ensembl chr12:50,085,200...50,100,707
JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP HPO ORPHA:1465 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
JBrowse link
G SOX11 SRY-box transcription factor 11 IAGP HPO ORPHA:1465 NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385
JBrowse link
G SOX4 SRY-box transcription factor 4 IAGP HPO ORPHA:1465 NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619
JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:1565143 PMID:8401536 PMID:8633021 PMID:12826609 PMID:17606709 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:7563486 PMID:8634692 PMID:8707293 PMID:8772572 PMID:8956040 More... NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667
JBrowse link
Hepatocellular adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 IAGP HPO ORPHA:552 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894
JBrowse link
G APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 IAGP HPO ORPHA:552 NCBI chr 3:57,227,729...57,273,471
Ensembl chr 3:57,227,726...57,278,105
JBrowse link
G BLK BLK proto-oncogene, Src family tyrosine kinase IAGP HPO ORPHA:552 NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599
JBrowse link
G CEL carboxyl ester lipase IAGP HPO ORPHA:552 NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861
JBrowse link
G GCK glucokinase IAGP HPO ORPHA:552 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170
JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:562 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G HNF1A HNF1 homeobox A IAGP HPO OMIM:142330 ORPHA:552 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512
JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP HPO ORPHA:552 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845
JBrowse link
G INS insulin IAGP HPO ORPHA:552 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO ORPHA:552 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331
JBrowse link
G KLF11 KLF transcription factor 11 IAGP HPO ORPHA:552 NCBI chr 2:10,043,550...10,054,836
Ensembl chr 2:10,042,849...10,054,836
JBrowse link
G NEUROD1 neuronal differentiation 1 IAGP HPO ORPHA:552 NCBI chr 2:181,668,295...181,680,517
Ensembl chr 2:181,668,295...181,680,827
JBrowse link
G PAX4 paired box 4 IAGP HPO ORPHA:552 NCBI chr 7:127,610,292...127,618,142
Ensembl chr 7:127,610,292...127,618,142
JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 IAGP HPO ORPHA:552 NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313
JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 IAGP HPO ORPHA:264580 NCBI chr  X:18,892,298...18,984,114
Ensembl chr  X:18,892,298...18,984,114
JBrowse link
G PHKB phosphorylase kinase regulatory subunit beta IAGP HPO ORPHA:79240 NCBI chr16:47,461,299...47,701,523
Ensembl chr16:47,461,123...47,701,523
JBrowse link
G PHKG2 phosphorylase kinase catalytic subunit gamma 2 IAGP HPO ORPHA:264580 NCBI chr16:30,748,425...30,761,176
Ensembl chr16:30,748,293...30,761,176
JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO ORPHA:79259 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906
JBrowse link
Hepatocellular carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 IAGP HPO OMIM:601847 NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 IAGP HPO ORPHA:69663 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435
JBrowse link
G AHCY adenosylhomocysteinase IAGP HPO ORPHA:88618 NCBI chr20:34,231,981...34,311,836
Ensembl chr20:34,280,268...34,311,802
JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G ALB albumin IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member susceptibility
no_association
IAGP associated with hepatitis C:DNA:SNP:exon 12
associated with hepatitis B;DNA;missense mutation, haplotype:cds: (rs671) (human)
DNA:missense mutation:cds: (rs671) (human)
RGD PMID:12940444 PMID:10737710 PMID:26827895 PMID:29765251 RGD:14696778, RGD:15042859, RGD:15042857, RGD:14700899 NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: Increased incidence of hepatocellular carcinoma
ClinVar Annotator: match by term: Hepatocellular carcinoma
ClinVar
HPO
PMID:1316610 PMID:1324223 PMID:1338764 PMID:1944466 PMID:2068566 More... OMIM:114550 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
JBrowse link
G APOB apolipoprotein B IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G AQP7 aquaporin 7 IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr 9:33,383,191...33,402,568
Ensembl chr 9:33,383,179...33,402,682
JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G ARID2 AT-rich interaction domain 2 IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040
JBrowse link
G ATM ATM serine/threonine kinase IAGP HPO ORPHA:440437 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,823...108,369,102
JBrowse link
G ATP7B ATPase copper transporting beta IAGP HPO OMIM:277900 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125
JBrowse link
G ATXN1 ataxin 1 IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr 6:16,299,112...16,761,460
Ensembl chr 6:16,299,112...16,761,491
JBrowse link
G AXIN1 axin 1 IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar
HPO
PMID:10700176 PMID:25741868 PMID:25741905 PMID:28492532 PMID:37582359 OMIM:114550 NCBI chr16:287,440...352,723
Ensembl chr16:287,440...352,723
JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP HPO OMIM:235200 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
JBrowse link
G BMP6 bone morphogenetic protein 6 IAGP HPO ORPHA:465508 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728
JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO ORPHA:440437 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,756,596...86,932,825
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:440437 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G BTK Bruton tyrosine kinase IAGP HPO OMIM:300755 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G CASP10 caspase 10 IAGP HPO ORPHA:3261 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428
JBrowse link
G CASP8 caspase 8 severity IAGP associated with hepatitis B;DNA:insertion/deletion:promoter: (rs3834129)
ClinVar Annotator: match by term: Hepatocellular carcinoma
HPO
ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:28643196 OMIM:114550, RGD:14695027 NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836
JBrowse link
G CCDC150 coiled-coil domain containing 150 IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr 2:196,639,715...196,732,806
Ensembl chr 2:196,639,554...196,763,490
JBrowse link
G CCND1 cyclin D1 susceptibility IAGP associated with Hepatitis B, Chronic;DNA:SNP:splice-site mutation:870G>A RGD PMID:25851350 RGD:14401586 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G CDC27 cell division cycle 27 IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr17:47,117,703...47,189,295
Ensembl chr17:47,117,703...47,189,422
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP ClinVar Annotator: match by term: Increased incidence of hepatocellular carcinoma
ClinVar Annotator: match by term: Hepatocellular carcinoma
ClinVar PMID:7780957 PMID:8521414 PMID:9185756 PMID:9324288 PMID:10491434 More... NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:440437 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G CNOT9 CCR4-NOT transcription complex subunit 9 IAGP ClinVar Annotator: match by term: Increased incidence of hepatocellular carcinoma ClinVar PMID:26619011 NCBI chr 2:218,568,839...218,597,080
Ensembl chr 2:218,568,580...218,597,080
JBrowse link
G CPOX coproporphyrinogen oxidase IAGP HPO ORPHA:79273 NCBI chr 3:98,570,488...98,593,611
Ensembl chr 3:98,579,446...98,593,648
JBrowse link
G CREBBP CREB binding protein IAGP ClinVar Annotator: match by term: Increased incidence of hepatocellular carcinoma ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CTNNB1 catenin beta 1 exacerbates IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma
DNA:missense mutations:exon 3:multiple
ClinVar Annotator: match by term: Increased incidence of hepatocellular carcinoma
ClinVar
HPO
RGD
PMID:9065402 PMID:9065403 PMID:9294210 PMID:9500465 PMID:9927029 More... OMIM:114550, RGD:150429592 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 susceptibility IAGP DNA:SNPs, haplotype:multiple RGD PMID:24381110 RGD:26884366 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G DRD4 dopamine receptor D4 IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr11:637,269...640,706
Ensembl chr11:637,269...640,706
JBrowse link
G DSPP dentin sialophosphoprotein IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873
JBrowse link
G EGF epidermal growth factor susceptibility IAGP associated with liver cirrhosis;DNA:SNP:5'UTR: (rs4444903)
associated with hepatitis B;DNA:SNP:exon: (rs11569017)
RGD PMID:18167406 PMID:23790025 RGD:14695013, RGD:14695014 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP HPO ORPHA:144 NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility
disease_progression
IAGP DNA:SNPs:exon 23: p.K751Q (human)
DNA:SNP:cd: 312A>G (human)
DNA:SNPs:exon 23: p.K751Q (rs13181) (human)
DNA:SNPs:exon 23: p.K751Q (human)
RGD PMID:19919686 PMID:28927037 PMID:28598207 PMID:25531380 RGD:25671459, RGD:150530503, RGD:25671461, RGD:25671460 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G F5 coagulation factor V IAGP HPO OMIM:600880 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G FAH fumarylacetoacetate hydrolase IAGP associated with liver disease;DNA:missense mutation:cds:p.R142G HPO
RGD
PMID:27397503 OMIM:276700 ORPHA:882, RGD:14401587 NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946
JBrowse link
G FAN1 FANCD2 and FANCI associated nuclease 1 IAGP HPO ORPHA:144 NCBI chr15:30,903,852...30,943,108
Ensembl chr15:30,890,559...30,943,108
JBrowse link
G FAS Fas cell surface death receptor IAGP HPO ORPHA:3261 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FASLG Fas ligand IAGP HPO ORPHA:3261 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G FGA fibrinogen alpha chain IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ClinVar Annotator: match by term: Increased incidence of hepatocellular carcinoma
ClinVar Annotator: match by term: Hepatocellular carcinoma
ClinVar PMID:25705862 PMID:26619011 PMID:26942290 PMID:33448156 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FH fumarate hydratase IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar PMID:10896297 PMID:15221078 PMID:16876016 PMID:17182618 PMID:18313410 More... NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 IAGP HPO OMIM:232200 NCBI chr17:42,900,799...42,914,438
Ensembl chr17:42,900,797...42,914,438
JBrowse link
G GABRE gamma-aminobutyric acid type A receptor subunit epsilon IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr  X:151,953,124...151,974,676
Ensembl chr  X:151,953,124...151,974,680
JBrowse link
G GIMAP5 GTPase, IMAP family member 5 IAGP HPO OMIM:619463 NCBI chr 7:150,737,418...150,743,646
Ensembl chr 7:150,722,253...150,750,033
JBrowse link
G GNAS GNAS complex locus IAGP ClinVar Annotator: match by term: Increased incidence of hepatocellular carcinoma
ClinVar Annotator: match by term: Hepatocellular carcinoma
ClinVar PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 More... NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GPR35 G protein-coupled receptor 35 IAGP HPO ORPHA:171 NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159
JBrowse link
G GPX1 glutathione peroxidase 1 severity IAGP
IGI
associated with hepatitis C;DNA:missense mutation:CDS:p.P198L (rs1050450) (human)
associated with alcoholic liver cirrhosis;DNA:missense mutation:CDS:p.P198L (human)
RGD PMID:26990426 PMID:16510607 RGD:11533013, RGD:151708729 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605
JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP HPO OMIM:180860 NCBI chr11:1,998,202...2,003,509 JBrowse link
G HBB hemoglobin subunit beta IAGP HPO ORPHA:231214 ORPHA:231222 ORPHA:231226 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
JBrowse link
G HFE homeostatic iron regulator IAGP HPO OMIM:235200 ORPHA:465508 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343
JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 disease_progression IAGP DNA:polymorphism: :HLA-DPB1*02:01 (human) RGD PMID:26449183 RGD:11536957 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP associated with Chronic Hepatitis B;DNA:polymorphism:enhancer:HLA-DQA1 RGD PMID:30160782 RGD:14398839 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HMBS hydroxymethylbilane synthase IAGP HPO OMIM:176000 ORPHA:79276 NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Increased incidence of hepatocellular carcinoma
ClinVar Annotator: match by term: Hepatocellular carcinoma
ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: Increased incidence of hepatocellular carcinoma
ClinVar Annotator: match by term: Hepatocellular carcinoma
ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... 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 ClinVar Annotator: match by term: Increased incidence of hepatocellular carcinoma ClinVar PMID:20946881 PMID:21250968 PMID:21596855 PMID:21997850 PMID:22160010 More... NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO OMIM:180860 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
JBrowse link
G IGF2R insulin like growth factor 2 receptor IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar
HPO
PMID:9722161 PMID:25741868 OMIM:114550 NCBI chr 6:159,969,082...160,111,504
Ensembl chr 6:159,969,082...160,113,507
JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr 7:45,888,488...45,893,660
Ensembl chr 7:45,888,360...45,893,660
JBrowse link
G IL12A interleukin 12A IAGP HPO ORPHA:186 NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019
JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 IAGP HPO ORPHA:186 NCBI chr19:18,058,995...18,098,816
Ensembl chr19:18,058,995...18,098,944
JBrowse link
G IL21 interleukin 21 IAGP associated with hepatitis B;DNA:SNPS, haplotype:(rs13143866, rs2221903, rs907715) (human) RGD PMID:25892873 RGD:127285359 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:186 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
JBrowse link
G JAG1 jagged canonical Notch ligand 1 IAGP HPO OMIM:118450 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
JBrowse link
G JAK2 Janus kinase 2 IAGP HPO OMIM:600880 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G KEAP1 kelch like ECH associated protein 1 IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558
JBrowse link
G KIR3DS1 killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1 susceptibility IAGP DNA:deletion: RGD PMID:25700262 RGD:38676455
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Increased incidence of hepatocellular carcinoma ClinVar
HPO
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... ORPHA:144 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LEP leptin susceptibility IAGP DNA:SNP:promoter:-2548G>A (rs7799039) RGD PMID:28452232 RGD:15039399 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G LOC108663993 ataxin 1 repeat instability region IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr 6:16,327,634...16,327,724 JBrowse link
G LOC108663996 TATA-box binding protein repeat instability region IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr 6:170,561,907...170,562,021 JBrowse link
G LOC110806263 TERT 5' regulatory region IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar PMID:28492532 PMID:28677271 NCBI chr 5:1,294,628...1,298,988 JBrowse link
G LOC126805670 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:27098665-27099864 IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr 1:26,772,174...26,773,373 JBrowse link
G LOC126806658 BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar PMID:9065402 PMID:9065403 PMID:9294210 PMID:9500465 PMID:9927029 More... NCBI chr 3:41,224,408...41,225,607 JBrowse link
G LOC126806659 BRD4-independent group 4 enhancer GRCh37_chr3:41274918-41276117 IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More... NCBI chr 3:41,233,427...41,234,626 JBrowse link
G LOC129994371 ATAC-STARR-seq lymphoblastoid active region 22910 IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar PMID:25741868 PMID:28492532
G LOC129997612 ATAC-STARR-seq lymphoblastoid silent region 17757 IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar PMID:25741868
G LRP1B LDL receptor related protein 1B exacerbates IAGP DNA:mutations:multiple RGD PMID:33391418 RGD:150429785 NCBI chr 2:140,231,423...142,131,016
Ensembl chr 2:140,231,423...142,131,016
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Increased incidence of hepatocellular carcinoma
ClinVar Annotator: match by term: Hepatocellular carcinoma
ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
JBrowse link
G MAP2K3 mitogen-activated protein kinase kinase 3 IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr17:21,284,711...21,315,240
Ensembl chr17:21,284,672...21,315,232
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Increased incidence of hepatocellular carcinoma
ClinVar Annotator: match by term: Hepatocellular carcinoma
ClinVar
HPO
PMID:21774103 PMID:21970370 PMID:22703879 PMID:24728327 PMID:25741868 More... OMIM:114550 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
JBrowse link
G MIR146A microRNA 146a sexual_dimorphism
susceptibility
IAGP associated with hepatitis B;miRNA:SNP:exon: (rs2910164)
associated with hepatitis B;miRNA:SNP:
RGD PMID:18711148 PMID:24615520 PMID:24816919 RGD:126925148, RGD:126925187, RGD:126925158 NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450
JBrowse link
G MLH1 mutL homolog 1 IAGP HPO ORPHA:144 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896
JBrowse link
G MLH3 mutL homolog 3 IAGP HPO ORPHA:144 NCBI chr14:75,013,775...75,051,467
Ensembl chr14:75,013,769...75,051,532
JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 IAGP HPO ORPHA:186 NCBI chr 1:2,590,639...2,633,016
Ensembl chr 1:2,590,639...2,633,016
JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 IAGP HPO OMIM:256810 NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680
JBrowse link
G MSH2 mutS homolog 2 IAGP HPO ORPHA:144 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146
JBrowse link
G MSH6 mutS homolog 6 IAGP HPO ORPHA:144 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063
JBrowse link
G MST1 macrophage stimulating 1 IAGP HPO ORPHA:171 NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501
JBrowse link
G MUC4 mucin 4, cell surface associated IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973
JBrowse link
G MUTYH mutY DNA glycosylase IAGP HPO ORPHA:440437 NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893
JBrowse link
G MZT2A mitotic spindle organizing protein 2A IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr 2:131,469,728...131,493,754
Ensembl chr 2:131,464,900...131,492,743
JBrowse link
G NBN nibrin IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More... NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 IAGP ClinVar Annotator: match by term: Increased incidence of hepatocellular carcinoma ClinVar PMID:26619011 PMID:29018201 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
JBrowse link
G NFKBIA NFKB inhibitor alpha susceptibility IAGP associated with hepatitis B;DNA:SNP:promoter:-826C>T (rs2233406) RGD PMID:25223483 RGD:40902986 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Increased incidence of hepatocellular carcinoma
ClinVar Annotator: match by term: Hepatocellular carcinoma
ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G NRG2 neuregulin 2 IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr 5:139,846,781...140,043,299
Ensembl chr 5:139,846,779...140,043,299
JBrowse link
G PDE11A phosphodiesterase 11A IAGP HPO ORPHA:1359 NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339
JBrowse link
G PDE4DIP phosphodiesterase 4D interacting protein IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr 1:148,808,434...149,033,016
Ensembl chr 1:148,808,140...149,048,286
JBrowse link
G PDGFRL platelet derived growth factor receptor like IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar
HPO
PMID:7898930 OMIM:114550 NCBI chr 8:17,576,433...17,643,144
Ensembl chr 8:17,576,433...17,644,071
JBrowse link
G PHKB phosphorylase kinase regulatory subunit beta IAGP HPO ORPHA:79240 NCBI chr16:47,461,299...47,701,523
Ensembl chr16:47,461,123...47,701,523
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Increased incidence of hepatocellular carcinoma
ClinVar Annotator: match by term: Hepatocellular carcinoma
ClinVar
HPO
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... OMIM:114550 ORPHA:144 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component IAGP HPO ORPHA:144 NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar
HPO
ORPHA:144 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130
JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP HPO ORPHA:440437 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018
JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP HPO ORPHA:440437 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit susceptibility IAGP DNA:SNPs:introns: (rs1061316, rs758130) RGD PMID:28457473 RGD:15039387 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G POU2AF1 POU class 2 homeobox associating factor 1 IAGP HPO ORPHA:186 NCBI chr11:111,352,255...111,379,275
Ensembl chr11:111,352,255...111,455,630
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha susceptibility IAGP associated with hepatitis B;DNA:missense mutation:cds:p.L162V RGD PMID:19119483 RGD:15042881 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755
JBrowse link
G PPOX protoporphyrinogen oxidase IAGP HPO ORPHA:79473 NCBI chr 1:161,165,728...161,178,013
Ensembl chr 1:161,166,056...161,178,013
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:1359 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G PRKCD protein kinase C delta IAGP HPO ORPHA:3261 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
G PYGL glycogen phosphorylase L IAGP HPO ORPHA:369 NCBI chr14:50,905,217...50,944,483
Ensembl chr14:50,857,891...50,944,483
JBrowse link
G RAD50 RAD50 double strand break repair protein IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar PMID:16385572 PMID:18281469 PMID:19409520 PMID:24894818 PMID:25452441 More... NCBI chr 5:132,556,977...132,646,349
Ensembl chr 5:132,556,019...132,646,349
JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 IAGP HPO ORPHA:3261 NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575
JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar PMID:7784092 PMID:7845675 PMID:7911697 PMID:9111992 PMID:9242375 More... NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
G RPS20 ribosomal protein S20 IAGP HPO ORPHA:440437 NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510
JBrowse link
G RXRA retinoid X receptor alpha IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar PMID:26619011 NCBI chr 9:134,326,455...134,440,585
Ensembl chr 9:134,317,098...134,440,585
JBrowse link
G SEMA4A semaphorin 4A IAGP HPO ORPHA:440437 NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752
JBrowse link
G SEMA4D semaphorin 4D IAGP HPO ORPHA:171 NCBI chr 9:89,360,787...89,498,113
Ensembl chr 9:89,360,787...89,498,130
JBrowse link
G SERPINA1 serpin family A member 1 IAGP HPO OMIM:613490 ORPHA:60 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693
JBrowse link
G SET SET nuclear proto-oncogene IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar PMID:26822237 NCBI chr 9:128,683,424...128,696,396
Ensembl chr 9:128,683,424...128,696,400
JBrowse link
G SF3B1 splicing factor 3b subunit 1 IAGP ClinVar Annotator: match by term: Increased incidence of hepatocellular carcinoma ClinVar PMID:23634996 PMID:26619011 NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079
JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP ClinVar Annotator: match by term: Increased incidence of hepatocellular carcinoma ClinVar PMID:26619011 NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308
JBrowse link
G SLC25A13 solute carrier family 25 member 13 IAGP HPO OMIM:603471 ORPHA:247585 NCBI chr 7:96,120,220...96,322,098
Ensembl chr 7:96,120,220...96,322,147
JBrowse link
G SLC27A6 solute carrier family 27 member 6 IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr 5:128,965,488...129,033,635
Ensembl chr 5:128,538,013...129,033,642
JBrowse link
G SLC2A2 solute carrier family 2 member 2 IAGP HPO ORPHA:2088 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743
JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO OMIM:232220 OMIM:232240 ORPHA:79259 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906
JBrowse link
G SLC9A5 solute carrier family 9 member A5 IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr16:67,248,979...67,272,191
Ensembl chr16:67,237,683...67,272,191
JBrowse link
G SPIB Spi-B transcription factor IAGP HPO ORPHA:186 NCBI chr19:50,418,938...50,431,314
Ensembl chr19:50,418,938...50,431,314
JBrowse link
G SPRTN SprT-like N-terminal domain IAGP HPO OMIM:616200 NCBI chr 1:231,338,293...231,355,023
Ensembl chr 1:231,337,104...231,355,023
JBrowse link
G SVIL supervillin IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr10:29,457,338...29,736,936
Ensembl chr10:29,457,338...29,736,959
JBrowse link
G TAOK2 TAO kinase 2 IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr16:29,973,868...29,992,261
Ensembl chr16:29,973,868...29,992,261
JBrowse link
G TBP TATA-box binding protein IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870
JBrowse link
G TCF4 transcription factor 4 IAGP HPO ORPHA:171 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787
JBrowse link
G TERT telomerase reverse transcriptase IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma
ClinVar Annotator: match by term: Increased incidence of hepatocellular carcinoma
ClinVar PMID:23000435 PMID:25741868 PMID:28492532 PMID:28677271 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:144 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
G TJP2 tight junction protein 2 IAGP HPO OMIM:615878 NCBI chr 9:69,121,264...69,255,208
Ensembl chr 9:69,121,264...69,274,615
JBrowse link
G TNFSF15 TNF superfamily member 15 IAGP HPO ORPHA:186 NCBI chr 9:114,784,635...114,806,039
Ensembl chr 9:114,784,652...114,806,039
JBrowse link
G TNPO3 transportin 3 IAGP HPO ORPHA:186 NCBI chr 7:128,954,185...129,056,193
Ensembl chr 7:128,954,180...129,055,173
JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Increased incidence of hepatocellular carcinoma
ClinVar Annotator: match by term: Hepatocellular carcinoma
ClinVar Annotator: match by term: Increased hepatocellular carcinoma risk
ClinVar
HPO
PMID:224644 PMID:253702 PMID:960674 PMID:1349102 PMID:1349175 More... OMIM:114550 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TRADD TNFRSF1A associated via death domain IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr16:67,154,185...67,159,909
Ensembl chr16:67,154,185...67,159,909
JBrowse link
G TUBA3D tubulin alpha 3d IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr 2:131,476,119...131,482,934
Ensembl chr 2:131,476,119...131,482,934
JBrowse link
G TULP3 TUB like protein 3 IAGP HPO OMIM:619902 NCBI chr12:2,890,891...2,941,138
Ensembl chr12:2,877,223...2,941,138
JBrowse link
G UBXN11 UBX domain protein 11 IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr 1:26,282,282...26,318,355
Ensembl chr 1:26,281,328...26,318,363
JBrowse link
G UROD uroporphyrinogen decarboxylase IAGP HPO OMIM:176100 NCBI chr 1:45,012,254...45,015,575
Ensembl chr 1:45,010,950...45,015,575
JBrowse link
G USF3 upstream transcription factor family member 3 IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar NCBI chr 3:113,648,385...113,696,642
Ensembl chr 3:113,648,385...113,696,646
JBrowse link
G VDR vitamin D receptor IAGP ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility
disease_progression
no_association
severity
IAGP DNA:missense mutation:cds:p.R399Q (rs25487)
DNA:SNP:exon 13: c.1471G>A, p.E491K (human)
DNA:SNPs:cds: 194C>T, 280A>G (human)
associated with Hepatitis C, Chronic;DNA:missense mutation:cds:p.R399Q (human)
DNA:missense mutation:cds:p.R194W (human)
associated with hepatitis B;DNA:missense mutation, haplotype:cds:p.R399Q (human)
DNA:missense mutations:cds:p.R194W, p.R280H, p.R399Q (human)
DNA:missense mutation:cds:p.R399Q (28152G>A) (rs25487) (human)
DNA:missense mutation:cds:p.R399Q (rs25487) (human)
DNA:silent mutation, missense mutation:cds:c.1161G>A, c.1779C>G (p.L387L, p.S593R)
DNA:missense mutations:cds:c.482C>T, c.1178G>A (p.P161L, p.R393H)
RGD PMID:28058700 PMID:24446299 PMID:28927037 PMID:29935355 PMID:29935355 More... RGD:14696702, RGD:150530624, RGD:150530503, RGD:15036797, RGD:15036797, RGD:15036794, RGD:15014792, RGD:14985240, RGD:14985238, RGD:14696773, RGD:14696772 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
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Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the digestive system 4660
        Abnormality of the abdominal organs 1693
          Abnormality of the liver 1242
            Neoplasm of the liver 252
              Hepatic focal nodular hyperplasia 0
              Hepatic hemangioma 5
              Hepatoblastoma 79
              Hepatocellular adenoma 18
              Hepatocellular carcinoma 154
              Liver hamartoma + 0
              Liver leiomyoma 0
Path 2
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Neoplasm 4253
        Neoplasm by anatomical site 4229
          Digestive system neoplasm 1587
            Neoplasm of the gastrointestinal tract 1518
              Neoplasm of the liver 252
                Hepatic focal nodular hyperplasia 0
                Hepatic hemangioma 5
                Hepatoblastoma 79
                Hepatocellular adenoma 18
                Hepatocellular carcinoma 154
                Liver hamartoma + 0
                Liver leiomyoma 0
paths to the root