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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:Lipid accumulation in hepatocytes
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Accession:HP:0006561 term browser browse the term
Synonyms:xref: UMLS:C1837257



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Lipid accumulation in hepatocytes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPT2 carnitine palmitoyltransferase 2 IAGP OMIM:608836 HPO NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase IAGP ORPHA:20 HPO NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620
JBrowse link
Acute hepatic steatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 IAGP ORPHA:209902 HPO NCBI chr 8:58,490,178...58,500,163
Ensembl chr 8:58,490,178...58,500,163
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 IAGP OMIM:210200 HPO NCBI chr 3:183,015,218...183,116,196
Ensembl chr 3:183,015,218...183,116,075
JBrowse link
Diffuse hepatic steatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOX1 acyl-CoA oxidase 1 IAGP OMIM:264470 HPO NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177
JBrowse link
G COA8 cytochrome c oxidase assembly factor 8 IAGP ORPHA:436271 HPO NCBI chr14:103,562,960...103,590,899
Ensembl chr14:103,562,960...103,607,523
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha IAGP ORPHA:746 HPO NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta IAGP ORPHA:746 HPO NCBI chr 2:26,244,939...26,290,465
Ensembl chr 2:26,243,170...26,290,465
JBrowse link
Hepatic steatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG5 ATP binding cassette subfamily G member 5 IAGP ORPHA:391665 HPO NCBI chr 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865
JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 IAGP ORPHA:391665 HPO NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988
JBrowse link
G ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase IAGP OMIM:275630 ORPHA:98907 HPO NCBI chr 3:43,690,870...43,734,371
Ensembl chr 3:43,690,108...43,734,371
JBrowse link
G ACAD9 acyl-CoA dehydrogenase family member 9 IAGP ORPHA:99901 HPO NCBI chr 3:128,879,620...128,913,114
Ensembl chr 3:128,879,596...128,924,003
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain IAGP OMIM:201450 ORPHA:42 HPO NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain IAGP ORPHA:26792 HPO NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain IAGP OMIM:201475 HPO NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266
JBrowse link
G ADIPOR2 adiponectin receptor 2 IAGP DNA:SNP:intron 5: (rs767870) (human) RGD PMID:19208777 RGD:25824938 NCBI chr12:1,691,070...1,788,674
Ensembl chr12:1,688,574...1,788,674
JBrowse link
G ADK adenosine kinase IAGP OMIM:614300 HPO NCBI chr10:74,151,221...74,709,290
Ensembl chr10:74,151,202...74,709,963
JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 IAGP OMIM:608594 ORPHA:528 HPO NCBI chr 9:136,673,143...136,687,457
Ensembl chr 9:136,673,143...136,687,457
JBrowse link
G AKR1D1 aldo-keto reductase family 1 member D1 IAGP ORPHA:79303 HPO NCBI chr 7:138,076,459...138,118,305
Ensembl chr 7:138,002,324...138,118,305
JBrowse link
G AKT2 AKT serine/threonine kinase 2 IAGP ORPHA:79085 HPO NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536
JBrowse link
G ALDOB aldolase, fructose-bisphosphate B IAGP OMIM:229600 HPO NCBI chr 9:101,420,560...101,435,774
Ensembl chr 9:101,420,560...101,449,664
JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP OMIM:203800 ORPHA:64 HPO NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
JBrowse link
G APOB apolipoprotein B IAGP ORPHA:391665 HPO NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G APOE apolipoprotein E IAGP ORPHA:412 HPO NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G ARMC5 armadillo repeat containing 5 IAGP ORPHA:189427 HPO NCBI chr16:31,458,304...31,467,167
Ensembl chr16:31,458,080...31,467,166
JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 IAGP OMIM:300972 HPO NCBI chr  X:154,428,677...154,436,516
Ensembl chr  X:154,428,633...154,436,516
JBrowse link
G ATP6AP2 ATPase H+ transporting accessory protein 2 IAGP OMIM:301045 HPO NCBI chr  X:40,580,970...40,606,848
Ensembl chr  X:40,579,372...40,606,848
JBrowse link
G ATP7B ATPase copper transporting beta IAGP OMIM:277900 HPO NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125
JBrowse link
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone IAGP ORPHA:53693 HPO NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443
JBrowse link
G BLM BLM RecQ like helicase IAGP OMIM:210900 HPO NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP OMIM:269700 ORPHA:363400 ORPHA:528 HPO NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
JBrowse link
G CASZ1 castor zinc finger 1 IAGP ORPHA:1606 HPO NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650
JBrowse link
G CAV1 caveolin 1 IAGP OMIM:612526 ORPHA:528 HPO NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
JBrowse link
G CAVIN1 caveolae associated protein 1 IAGP OMIM:613327 ORPHA:528 HPO NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256
JBrowse link
G CBS cystathionine beta-synthase IAGP OMIM:236200 HPO NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G CEP19 centrosomal protein 19 IAGP OMIM:615703 HPO NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250
JBrowse link
G CIDEC cell death inducing DFFA like effector c IAGP OMIM:615238 ORPHA:435651 HPO NCBI chr 3:9,866,710...9,880,253
Ensembl chr 3:9,866,711...9,880,255
JBrowse link
G CLPB caseinolytic mitochondrial matrix peptidase chaperone subunit B IAGP OMIM:616271 HPO NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680
JBrowse link
G COX15 cytochrome c oxidase assembly homolog COX15 IAGP OMIM:615119 HPO NCBI chr10:99,694,293...99,732,127
Ensembl chr10:99,710,868...99,732,127
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A IAGP OMIM:255120 HPO NCBI chr11:68,754,620...68,844,277
Ensembl chr11:68,754,620...68,844,410
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP ORPHA:228308 HPO NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 IAGP ORPHA:91 HPO NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601
JBrowse link
G DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit IAGP ORPHA:300536 HPO NCBI chr 1:20,651,777...20,661,369
Ensembl chr 1:20,651,767...20,661,544
JBrowse link
G DEF6 DEF6 guanine nucleotide exchange factor IAGP OMIM:619573 HPO NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771
JBrowse link
G DGUOK deoxyguanosine kinase IAGP OMIM:251880 HPO NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP OMIM:270400 HPO NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
JBrowse link
G DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic IAGP ORPHA:79322 HPO NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140
JBrowse link
G ETFA electron transfer flavoprotein subunit alpha IAGP OMIM:231680 HPO NCBI chr15:76,215,353...76,311,469
Ensembl chr15:76,188,555...76,311,730
JBrowse link
G ETFB electron transfer flavoprotein subunit beta IAGP OMIM:231680 HPO NCBI chr19:51,345,155...51,366,388
Ensembl chr19:51,345,169...51,366,388
JBrowse link
G ETFDH electron transfer flavoprotein dehydrogenase IAGP OMIM:231680 HPO NCBI chr 4:158,672,296...158,709,623
Ensembl chr 4:158,671,968...158,710,742
JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha IAGP OMIM:619013 HPO NCBI chr19:12,922,479...12,933,711
Ensembl chr19:12,922,479...12,934,037
JBrowse link
G FARSB phenylalanyl-tRNA synthetase subunit beta IAGP OMIM:613658 HPO NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092
JBrowse link
G FBP1 fructose-bisphosphatase 1 IAGP ORPHA:348 HPO NCBI chr 9:94,603,133...94,640,263
Ensembl chr 9:94,603,133...94,640,249
JBrowse link
G FOCAD focadhesin IAGP OMIM:619991 HPO NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit IAGP ORPHA:528 HPO NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230
JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP ORPHA:1606 HPO NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758
JBrowse link
G GNAS GNAS complex locus IAGP ORPHA:189427 HPO NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GNB2 G protein subunit beta 2 IAGP OMIM:619503 HPO NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
JBrowse link
G GPD1 glycerol-3-phosphate dehydrogenase 1 IAGP OMIM:614480 HPO NCBI chr12:50,104,008...50,111,313
Ensembl chr12:50,103,982...50,111,313
JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase IAGP OMIM:231530 ORPHA:71212 HPO NCBI chr 4:107,989,889...108,035,171
Ensembl chr 4:107,989,714...108,035,241
JBrowse link
G HNF1B HNF1 homeobox B IAGP ORPHA:93111 HPO NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059
JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 IAGP ORPHA:52430 HPO NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088
JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 IAGP ORPHA:52430 HPO NCBI chr 7:26,189,927...26,200,746
Ensembl chr 7:26,171,151...26,201,529
JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 IAGP OMIM:261515 HPO NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP ORPHA:1606 HPO NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
G IARS1 isoleucyl-tRNA synthetase 1 IAGP OMIM:617093 HPO NCBI chr 9:92,210,207...92,293,697
Ensembl chr 9:92,210,207...92,293,854
JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP OMIM:615846 HPO NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
JBrowse link
G KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 IAGP ORPHA:1606 HPO NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193
JBrowse link
G KMT2B lysine methyltransferase 2B IAGP OMIM:619934 HPO NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880
JBrowse link
G LARS1 leucyl-tRNA synthetase 1 IAGP OMIM:615438 HPO NCBI chr 5:146,113,034...146,182,650
Ensembl chr 5:146,110,566...146,182,696
JBrowse link
G LDLR low density lipoprotein receptor IAGP ORPHA:391665 HPO NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,462...11,133,820
JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 IAGP ORPHA:391665 HPO NCBI chr 1:25,543,606...25,590,400
Ensembl chr 1:25,543,606...25,568,886
JBrowse link
G LEPR leptin receptor severity IAGP DNA:SNP:intron:c.2673+1118C>T (rs6700896) (human) RGD PMID:22215535 RGD:14696694 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
JBrowse link
G LIPA lipase A, lysosomal acid type IAGP OMIM:278000 HPO NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557
JBrowse link
G LIPE lipase E, hormone sensitive type IAGP OMIM:615980 ORPHA:435660 HPO NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,514...42,427,388
JBrowse link
G LMNA lamin A/C IAGP OMIM:151660 ORPHA:2348 ORPHA:280365 ORPHA:79084 ORPHA:79474 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G LMNB2 lamin B2 IAGP ORPHA:79087 HPO NCBI chr19:2,428,166...2,456,959
Ensembl chr19:2,427,638...2,456,959
JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing IAGP ORPHA:70472 HPO NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226
JBrowse link
G LUZP1 leucine zipper protein 1 IAGP ORPHA:1606 HPO NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,177,808
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 IAGP OMIM:615486 HPO NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569
JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP ORPHA:1606 HPO NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263
JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 IAGP OMIM:618400 HPO NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680
JBrowse link
G MRPL3 mitochondrial ribosomal protein L3 IAGP OMIM:614582 HPO NCBI chr 3:131,462,212...131,502,971
Ensembl chr 3:131,462,212...131,502,983
JBrowse link
G MRPS7 mitochondrial ribosomal protein S7 IAGP OMIM:617872 HPO NCBI chr17:75,261,879...75,266,376
Ensembl chr17:75,261,674...75,266,376
JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP ClinVar Annotator: match by term: Steatosis ClinVar PMID:28027978 PMID:31965079 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
JBrowse link
G MTTP microsomal triglyceride transfer protein IAGP ORPHA:14 HPO NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997
JBrowse link
G NFS1 NFS1 cysteine desulfurase IAGP OMIM:619386 HPO NCBI chr20:35,668,052...35,699,352
Ensembl chr20:35,668,052...35,699,355
JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase IAGP OMIM:617253 ORPHA:436182 HPO NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,679...125,367,120
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP ClinVar Annotator: match by term: Steatosis ClinVar PMID:19303950 PMID:20157015 PMID:22857269 PMID:25741868 PMID:26467025 More... NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811
JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 IAGP OMIM:261680 HPO NCBI chr20:57,561,110...57,568,121
Ensembl chr20:57,561,080...57,568,121
JBrowse link
G PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial IAGP OMIM:261650 HPO NCBI chr14:24,094,171...24,104,125
Ensembl chr14:24,094,053...24,110,598
JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 IAGP ORPHA:391665 HPO NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,447...55,064,852
JBrowse link
G PDE11A phosphodiesterase 11A IAGP ORPHA:189439 HPO NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339
JBrowse link
G PDE8B phosphodiesterase 8B IAGP ORPHA:189439 HPO NCBI chr 5:77,180,304...77,428,256
Ensembl chr 5:77,210,449...77,428,256
JBrowse link
G PDPN podoplanin IAGP ORPHA:1606 HPO NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
JBrowse link
G PGM1 phosphoglucomutase 1 IAGP OMIM:614921 HPO NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245
JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 IAGP ORPHA:264580 HPO NCBI chr  X:18,892,298...18,984,114
Ensembl chr  X:18,892,298...18,984,114
JBrowse link
G PHKG2 phosphorylase kinase catalytic subunit gamma 2 IAGP ORPHA:264580 HPO NCBI chr16:30,748,425...30,761,176
Ensembl chr16:30,748,293...30,761,176
JBrowse link
G PLIN1 perilipin 1 IAGP OMIM:613877 ORPHA:280356 HPO NCBI chr15:89,664,367...89,679,367
Ensembl chr15:89,664,367...89,679,427
JBrowse link
G PMM2 phosphomannomutase 2 IAGP OMIM:212065 HPO NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP OMIM:610717 ORPHA:98908 HPO NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573
JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP OMIM:615381 HPO NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018
JBrowse link
G POLR3A RNA polymerase III subunit A IAGP ORPHA:3455 HPO NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP OMIM:604367 ORPHA:528 ORPHA:79083 HPO NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G PRDM16 PR/SET domain 16 IAGP ORPHA:1606 HPO NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621
JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP ORPHA:189439 HPO NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ORPHA:189439 HPO NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G PRKCZ protein kinase C zeta IAGP ORPHA:1606 HPO NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395
JBrowse link
G PRMT7 protein arginine methyltransferase 7 IAGP ClinVar Annotator: match by term: Hepatic steatosis
ClinVar Annotator: match by term: Steatosis
ClinVar PMID:25741868 PMID:28492532 NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852
JBrowse link
G PTRH2 peptidyl-tRNA hydrolase 2 IAGP OMIM:616263 HPO NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626
JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP ORPHA:1606 HPO NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
JBrowse link
G RINT1 RAD50 interactor 1 IAGP OMIM:618641 HPO NCBI chr 7:105,532,201...105,567,677
Ensembl chr 7:105,532,169...105,567,677
JBrowse link
G RMND1 required for meiotic nuclear division 1 homolog IAGP OMIM:614922 HPO NCBI chr 6:151,404,762...151,452,126
Ensembl chr 6:151,398,898...151,452,158
JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP OMIM:619487 HPO NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878
JBrowse link
G SAR1B secretion associated Ras related GTPase 1B IAGP ORPHA:71 HPO NCBI chr 5:134,601,149...134,632,828
Ensembl chr 5:134,601,149...134,649,271
JBrowse link
G SCO1 synthesis of cytochrome C oxidase 1 IAGP OMIM:619048 HPO NCBI chr17:10,672,474...10,697,533
Ensembl chr17:10,672,474...10,698,375
JBrowse link
G SKI SKI proto-oncogene IAGP ORPHA:1606 HPO NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213
JBrowse link
G SLC25A13 solute carrier family 25 member 13 IAGP OMIM:603471 ORPHA:247585 ORPHA:247598 HPO NCBI chr 7:96,120,220...96,322,098
Ensembl chr 7:96,120,220...96,322,147
JBrowse link
G SLC25A20 solute carrier family 25 member 20 IAGP OMIM:212138 HPO NCBI chr 3:48,856,926...48,898,882
Ensembl chr 3:48,856,926...48,898,904
JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP OMIM:619525 HPO NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906
JBrowse link
G SLC40A1 solute carrier family 40 member 1 IAGP ORPHA:139491 HPO NCBI chr 2:189,560,590...189,580,786
Ensembl chr 2:189,560,590...189,583,758
JBrowse link
G SPEN spen family transcriptional repressor IAGP ORPHA:1606 HPO NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
JBrowse link
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP OMIM:619475 HPO NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,317...54,671,446
JBrowse link
G SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha IAGP ORPHA:17 HPO NCBI chr 2:84,423,528...84,459,280
Ensembl chr 2:84,423,528...84,460,045
JBrowse link
G TARS2 threonyl-tRNA synthetase 2, mitochondrial IAGP OMIM:615918 HPO NCBI chr 1:150,487,419...150,507,602
Ensembl chr 1:150,487,414...150,507,602
JBrowse link
G TBX1 T-box transcription factor 1 IAGP OMIM:188400 HPO NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
JBrowse link
G TKFC triokinase and FMN cyclase IAGP OMIM:618805 HPO NCBI chr11:61,333,228...61,353,426
Ensembl chr11:61,333,220...61,353,295
JBrowse link
G TMEM199 transmembrane protein 199 IAGP OMIM:616829 HPO NCBI chr17:28,357,647...28,363,683
Ensembl chr17:28,357,642...28,363,683
JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 IAGP OMIM:615356 ORPHA:369840 HPO NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594
JBrowse link
G UBE4B ubiquitination factor E4B IAGP ORPHA:1606 HPO NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239
JBrowse link
G VCP valosin containing protein IAGP ORPHA:52430 HPO NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668
JBrowse link
G XRCC4 X-ray repair cross complementing 4 IAGP ORPHA:436182 HPO NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787
JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Steatosis ClinVar PMID:29232904 NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031
JBrowse link
G ZPR1 ZPR1 zinc finger IAGP OMIM:619321 HPO NCBI chr11:116,773,799...116,788,023
Ensembl chr11:116,773,799...116,788,039
JBrowse link
Increased hepatocellular lipid droplets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRPPRC leucine rich pentatricopeptide repeat containing IAGP OMIM:220111 HPO NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226
JBrowse link
G MT-TN mitochondrially encoded tRNA-Asn (AAU/C) IAGP OMIM:220110 HPO NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729
JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP OMIM:220110 HPO NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514
JBrowse link
G SAR1B secretion associated Ras related GTPase 1B IAGP ORPHA:71 HPO NCBI chr 5:134,601,149...134,632,828
Ensembl chr 5:134,601,149...134,649,271
JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor IAGP OMIM:220110 HPO NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676
JBrowse link
Macrovesicular hepatic steatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADRB3 adrenoceptor beta 3 IAGP DNA:missense mutation:cds:p.W64R (rs4994) RGD PMID:15318095 RGD:5684892 NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP OMIM:600649 OMIM:608836 HPO NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 IAGP ORPHA:209902 HPO NCBI chr 8:58,490,178...58,500,163
Ensembl chr 8:58,490,178...58,500,163
JBrowse link
G DOCK2 dedicator of cytokinesis 2 IAGP OMIM:616433 HPO NCBI chr 5:169,637,275...170,083,382
Ensembl chr 5:169,637,268...170,083,382
JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial IAGP OMIM:614924 HPO NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,520,754...23,557,731
JBrowse link
G HFE homeostatic iron regulator IAGP DNA:missense mutation:cds:p.C282Y RGD PMID:9453491 RGD:8694420 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343
JBrowse link
G LIG3 DNA ligase 3 IAGP ORPHA:298 HPO NCBI chr17:34,980,512...35,010,872
Ensembl chr17:34,980,512...35,009,743
JBrowse link
G LYRM4 LYR motif containing 4 IAGP OMIM:615595 HPO NCBI chr 6:5,031,753...5,260,950
Ensembl chr 6:5,103,629...5,260,950
JBrowse link
G MICOS13 mitochondrial contact site and cristae organizing system subunit 13 IAGP OMIM:618329 HPO NCBI chr19:5,678,422...5,680,516
Ensembl chr19:5,678,421...5,680,516
JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 IAGP OMIM:256810 HPO NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680
JBrowse link
G MTX2 metaxin 2 IAGP OMIM:619127 HPO NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025
JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP OMIM:300855 HPO NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080
JBrowse link
G NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 IAGP OMIM:618234 HPO NCBI chr15:41,387,353...41,403,026
Ensembl chr15:41,387,218...41,409,403
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ORPHA:298 HPO NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP ORPHA:298 HPO NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase IAGP OMIM:613070 HPO NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340
JBrowse link
G TYMP thymidine phosphorylase IAGP ORPHA:298 HPO NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP OMIM:617303 HPO NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,494
JBrowse link
Microvesicular hepatic steatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAD9 acyl-CoA dehydrogenase family member 9 IAGP OMIM:611126 HPO NCBI chr 3:128,879,620...128,913,114
Ensembl chr 3:128,879,596...128,924,003
JBrowse link
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone IAGP OMIM:124000 HPO NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443
JBrowse link
G CARS2 cysteinyl-tRNA synthetase 2, mitochondrial IAGP OMIM:616672 HPO NCBI chr13:110,641,410...110,713,522
Ensembl chr13:110,641,412...110,713,603
JBrowse link
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 IAGP OMIM:610198 ORPHA:66634 HPO NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774
JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing IAGP OMIM:220111 HPO NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226
JBrowse link
G LYRM4 LYR motif containing 4 IAGP OMIM:615595 HPO NCBI chr 6:5,031,753...5,260,950
Ensembl chr 6:5,103,629...5,260,950
JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 IAGP OMIM:256810 HPO NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680
JBrowse link
G MRPL44 mitochondrial ribosomal protein L44 IAGP OMIM:615395 HPO NCBI chr 2:223,950,854...223,967,714
Ensembl chr 2:223,957,463...223,967,714
JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP OMIM:300855 HPO NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080
JBrowse link
G NGLY1 N-glycanase 1 IAGP ORPHA:404454 HPO NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039
JBrowse link
G NHLRC2 NHL repeat containing 2 IAGP OMIM:618278 HPO NCBI chr10:113,854,661...113,917,194
Ensembl chr10:113,854,661...113,917,194
JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP OMIM:300868 HPO NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP OMIM:203700 HPO NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G SLC22A5 solute carrier family 22 member 5 IAGP OMIM:212140 HPO NCBI chr 5:132,369,710...132,395,612
Ensembl chr 5:132,369,710...132,395,613
JBrowse link
G TFAM transcription factor A, mitochondrial IAGP OMIM:617156 HPO NCBI chr10:58,385,410...58,399,220
Ensembl chr10:58,385,345...58,399,220
JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase IAGP OMIM:613070 HPO NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340
JBrowse link
G UNC45A unc-45 myosin chaperone A IAGP OMIM:619377 HPO NCBI chr15:90,930,180...90,954,093
Ensembl chr15:90,930,180...90,954,093
JBrowse link
G VPS4A vacuolar protein sorting 4 homolog A IAGP OMIM:619273 HPO NCBI chr16:69,311,350...69,326,939
Ensembl chr16:69,311,350...69,326,939
JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 IAGP OMIM:619418 HPO NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14923
    Phenotypic abnormality 14921
      Abnormality of the digestive system 4375
        Abnormality of the abdominal organs 1536
          Abnormality of the liver 1178
            Abnormal liver morphology 880
              Storage in hepatocytes 161
                Lipid accumulation in hepatocytes 161
                  Hepatic steatosis + 157
                  Increased hepatocellular lipid droplets 5
paths to the root