Lipid accumulation in hepatocytes - Ontology Report

OMIM:608836

NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197

HMGCL

3-hydroxy-3-methylglutaryl-CoA lyase

ORPHA:20

NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620

Acute hepatic steatosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CYP7A1

cytochrome P450 family 7 subfamily A member 1

ORPHA:209902

NCBI chr 8:58,490,178...58,500,163
Ensembl chr 8:58,490,178...58,500,163

MCCC1

methylcrotonyl-CoA carboxylase subunit 1

OMIM:210200

NCBI chr 3:183,015,218...183,116,196
Ensembl chr 3:183,015,218...183,116,075

Diffuse hepatic steatosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ACOX1

acyl-CoA oxidase 1

OMIM:264470

NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177

COA8

cytochrome c oxidase assembly factor 8

ORPHA:436271

NCBI chr14:103,562,960...103,590,899
Ensembl chr14:103,562,960...103,607,523

HADHA

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha

ORPHA:746

NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672

HADHB

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta

ORPHA:746

NCBI chr 2:26,244,939...26,290,465
Ensembl chr 2:26,243,170...26,290,465

Hepatic steatosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ABCG5

ATP binding cassette subfamily G member 5

ORPHA:391665

NCBI chr 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865

ABCG8

ATP binding cassette subfamily G member 8

ORPHA:391665

NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988

ABHD5

abhydrolase domain containing 5, lysophosphatidic acid acyltransferase

OMIM:275630 ORPHA:98907

NCBI chr 3:43,690,870...43,734,371
Ensembl chr 3:43,690,108...43,734,371

ACAD9

acyl-CoA dehydrogenase family member 9

ORPHA:99901

NCBI chr 3:128,879,620...128,913,114
Ensembl chr 3:128,879,596...128,924,003

ACADM

acyl-CoA dehydrogenase medium chain

OMIM:201450 ORPHA:42

NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575

ACADS

acyl-CoA dehydrogenase short chain

ORPHA:26792

NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008

ACADVL

acyl-CoA dehydrogenase very long chain

OMIM:201475

NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266

ADIPOR2

adiponectin receptor 2

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

ADK

adenosine kinase

OMIM:614300

NCBI chr10:74,151,221...74,709,290
Ensembl chr10:74,151,202...74,709,963

AGPAT2

1-acylglycerol-3-phosphate O-acyltransferase 2

OMIM:608594 ORPHA:528

NCBI chr 9:136,673,143...136,687,457
Ensembl chr 9:136,673,143...136,687,457

AKR1D1

aldo-keto reductase family 1 member D1

ORPHA:79303

NCBI chr 7:138,076,459...138,118,305
Ensembl chr 7:138,002,324...138,118,305

AKT2

AKT serine/threonine kinase 2

ORPHA:79085

NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536

ALDOB

aldolase, fructose-bisphosphate B

OMIM:229600

NCBI chr 9:101,420,560...101,435,774
Ensembl chr 9:101,420,560...101,449,664

ALMS1

ALMS1 centrosome and basal body associated protein

OMIM:203800 ORPHA:64

NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166

APOB

apolipoprotein B

ORPHA:391665

NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073

APOE

apolipoprotein E

ORPHA:412

NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393

ARMC5

armadillo repeat containing 5

ORPHA:189427

NCBI chr16:31,458,304...31,467,167
Ensembl chr16:31,458,080...31,467,166

ATP6AP1

ATPase H+ transporting accessory protein 1

OMIM:300972

NCBI chr X:154,428,677...154,436,516
Ensembl chr X:154,428,633...154,436,516

ATP6AP2

ATPase H+ transporting accessory protein 2

OMIM:301045

NCBI chr X:40,580,970...40,606,848
Ensembl chr X:40,579,372...40,606,848

ATP7B

ATPase copper transporting beta

OMIM:277900

NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125

BCS1L

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

ORPHA:53693

NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443

BLM

BLM RecQ like helicase

OMIM:210900

NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166

BSCL2

BSCL2 lipid droplet biogenesis associated, seipin

OMIM:269700 ORPHA:363400 ORPHA:528

NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845

CASZ1

castor zinc finger 1

ORPHA:1606

NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650

CAV1

caveolin 1

OMIM:612526 ORPHA:528

NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179

CAVIN1

caveolae associated protein 1

OMIM:613327 ORPHA:528

NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256

CBS

cystathionine beta-synthase

OMIM:236200

NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943

CEP19

centrosomal protein 19

OMIM:615703

NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250

CIDEC

cell death inducing DFFA like effector c

OMIM:615238 ORPHA:435651

NCBI chr 3:9,866,710...9,880,253
Ensembl chr 3:9,866,711...9,880,255

CLPB

caseinolytic mitochondrial matrix peptidase chaperone subunit B

OMIM:616271

NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680

COX15

cytochrome c oxidase assembly homolog COX15

OMIM:615119

NCBI chr10:99,694,293...99,732,127
Ensembl chr10:99,710,868...99,732,127

CPT1A

carnitine palmitoyltransferase 1A

OMIM:255120

NCBI chr11:68,754,620...68,844,277
Ensembl chr11:68,754,620...68,844,410

CPT2

carnitine palmitoyltransferase 2

ORPHA:228308

NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197

CYP19A1

cytochrome P450 family 19 subfamily A member 1

ORPHA:91

NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601

DDOST

dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit

ORPHA:300536

NCBI chr 1:20,651,777...20,661,369
Ensembl chr 1:20,651,767...20,661,544

DEF6

DEF6 guanine nucleotide exchange factor

OMIM:619573

NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771

DGUOK

deoxyguanosine kinase

OMIM:251880

NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961

DHCR7

7-dehydrocholesterol reductase

OMIM:270400

NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868

DPM1

dolichyl-phosphate mannosyltransferase subunit 1, catalytic

ORPHA:79322

NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140

ETFA

electron transfer flavoprotein subunit alpha

OMIM:231680

NCBI chr15:76,215,353...76,311,469
Ensembl chr15:76,188,555...76,311,730

ETFB

electron transfer flavoprotein subunit beta

OMIM:231680

NCBI chr19:51,345,155...51,366,388
Ensembl chr19:51,345,169...51,366,388

ETFDH

electron transfer flavoprotein dehydrogenase

OMIM:231680

NCBI chr 4:158,672,296...158,709,623
Ensembl chr 4:158,671,968...158,710,742

FARSA

phenylalanyl-tRNA synthetase subunit alpha

OMIM:619013

NCBI chr19:12,922,479...12,933,711
Ensembl chr19:12,922,479...12,934,037

FARSB

phenylalanyl-tRNA synthetase subunit beta

OMIM:613658

NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092

FBP1

fructose-bisphosphatase 1

ORPHA:348

NCBI chr 9:94,603,133...94,640,263
Ensembl chr 9:94,603,133...94,640,249

FOCAD

focadhesin

OMIM:619991

NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955

FOS

Fos proto-oncogene, AP-1 transcription factor subunit

ORPHA:528

NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230

GABRD

gamma-aminobutyric acid type A receptor subunit delta

ORPHA:1606

NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758

GNAS

GNAS complex locus

ORPHA:189427

NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192

GNB2

G protein subunit beta 2

OMIM:619503

NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174

GPD1

glycerol-3-phosphate dehydrogenase 1

OMIM:614480

NCBI chr12:50,104,008...50,111,313
Ensembl chr12:50,103,982...50,111,313

HADH

hydroxyacyl-CoA dehydrogenase

OMIM:231530 ORPHA:71212

NCBI chr 4:107,989,889...108,035,171
Ensembl chr 4:107,989,714...108,035,241

HNF1B

HNF1 homeobox B

ORPHA:93111

NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059

HNRNPA1

heterogeneous nuclear ribonucleoprotein A1

ORPHA:52430

NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088

HNRNPA2B1

heterogeneous nuclear ribonucleoprotein A2/B1

ORPHA:52430

NCBI chr 7:26,189,927...26,200,746
Ensembl chr 7:26,171,151...26,201,529

HSD17B4

hydroxysteroid 17-beta dehydrogenase 4

OMIM:261515

NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199

HSPG2

heparan sulfate proteoglycan 2

ORPHA:1606

NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310

IARS1

isoleucyl-tRNA synthetase 1

OMIM:617093

NCBI chr 9:92,210,207...92,293,697
Ensembl chr 9:92,210,207...92,293,854

IFIH1

interferon induced with helicase C domain 1

OMIM:615846

NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684

KCNAB2

potassium voltage-gated channel subfamily A regulatory beta subunit 2

ORPHA:1606

NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193

KMT2B

lysine methyltransferase 2B

OMIM:619934

NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880

LARS1

leucyl-tRNA synthetase 1

OMIM:615438

NCBI chr 5:146,113,034...146,182,650
Ensembl chr 5:146,110,566...146,182,696

LDLR

low density lipoprotein receptor

ORPHA:391665

NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,462...11,133,820

LDLRAP1

low density lipoprotein receptor adaptor protein 1

ORPHA:391665

NCBI chr 1:25,543,606...25,590,400
Ensembl chr 1:25,543,606...25,568,886

LEPR

leptin receptor

severity

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

LIPA

lipase A, lysosomal acid type

OMIM:278000

NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557

LIPE

lipase E, hormone sensitive type

OMIM:615980 ORPHA:435660

NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,514...42,427,388

LMNA

lamin A/C

OMIM:151660 ORPHA:2348 ORPHA:280365 ORPHA:79084 ORPHA:79474

NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081

LMNB2

lamin B2

ORPHA:79087

NCBI chr19:2,428,166...2,456,959
Ensembl chr19:2,427,638...2,456,959

LRPPRC

leucine rich pentatricopeptide repeat containing

ORPHA:70472

NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226

LUZP1

leucine zipper protein 1

ORPHA:1606

NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,177,808

MARS1

methionyl-tRNA synthetase 1

OMIM:615486

NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569

MMP23B

matrix metallopeptidase 23B

ORPHA:1606

NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263

MPV17

mitochondrial inner membrane protein MPV17

OMIM:618400

NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680

MRPL3

mitochondrial ribosomal protein L3

OMIM:614582

NCBI chr 3:131,462,212...131,502,971
Ensembl chr 3:131,462,212...131,502,983

MRPS7

mitochondrial ribosomal protein S7

OMIM:617872

NCBI chr17:75,261,879...75,266,376
Ensembl chr17:75,261,674...75,266,376

MT-TL1

mitochondrially encoded tRNA-Leu (UUA/G) 1

ClinVar Annotator: match by term: Steatosis

PMID:28027978 PMID:31965079

NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304

MTTP

microsomal triglyceride transfer protein

ORPHA:14

NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997

NFS1

NFS1 cysteine desulfurase

OMIM:619386

NCBI chr20:35,668,052...35,699,352
Ensembl chr20:35,668,052...35,699,355

NSMCE2

NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase

OMIM:617253 ORPHA:436182

NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,679...125,367,120

OPA1

OPA1 mitochondrial dynamin like GTPase

ClinVar Annotator: match by term: Steatosis

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

PCK1

phosphoenolpyruvate carboxykinase 1

OMIM:261680

NCBI chr20:57,561,110...57,568,121
Ensembl chr20:57,561,080...57,568,121

PCK2

phosphoenolpyruvate carboxykinase 2, mitochondrial

OMIM:261650

NCBI chr14:24,094,171...24,104,125
Ensembl chr14:24,094,053...24,110,598

PCSK9

proprotein convertase subtilisin/kexin type 9

ORPHA:391665

NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,447...55,064,852

PDE11A

phosphodiesterase 11A

ORPHA:189439

NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339

PDE8B

phosphodiesterase 8B

ORPHA:189439

NCBI chr 5:77,180,304...77,428,256
Ensembl chr 5:77,210,449...77,428,256

PDPN

podoplanin

ORPHA:1606

NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957

PGM1

phosphoglucomutase 1

OMIM:614921

NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245

PHKA2

phosphorylase kinase regulatory subunit alpha 2

ORPHA:264580

NCBI chr X:18,892,298...18,984,114
Ensembl chr X:18,892,298...18,984,114

PHKG2

phosphorylase kinase catalytic subunit gamma 2

ORPHA:264580

NCBI chr16:30,748,425...30,761,176
Ensembl chr16:30,748,293...30,761,176

PLIN1

perilipin 1

OMIM:613877 ORPHA:280356

NCBI chr15:89,664,367...89,679,367
Ensembl chr15:89,664,367...89,679,427

PMM2

phosphomannomutase 2

OMIM:212065

NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534

PNPLA2

patatin like phospholipase domain containing 2

OMIM:610717 ORPHA:98908

NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573

POLD1

DNA polymerase delta 1, catalytic subunit

OMIM:615381

NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018

POLR3A

RNA polymerase III subunit A

ORPHA:3455

NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522

PPARG

peroxisome proliferator activated receptor gamma

OMIM:604367 ORPHA:528 ORPHA:79083

NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356

PRDM16

PR/SET domain 16

ORPHA:1606

NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621

PRKACA

protein kinase cAMP-activated catalytic subunit alpha

ORPHA:189439

NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084

PRKAR1A

protein kinase cAMP-dependent type I regulatory subunit alpha

ORPHA:189439

NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319

PRKCZ

protein kinase C zeta

ORPHA:1606

NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395

PRMT7

protein arginine methyltransferase 7

ClinVar Annotator: match by term: Hepatic steatosis
ClinVar Annotator: match by term: Steatosis

PMID:25741868 PMID:28492532

NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852

PTRH2

peptidyl-tRNA hydrolase 2

OMIM:616263

NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626

RERE

arginine-glutamic acid dipeptide repeats

ORPHA:1606

NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921

RINT1

RAD50 interactor 1

OMIM:618641

NCBI chr 7:105,532,201...105,567,677
Ensembl chr 7:105,532,169...105,567,677

RMND1

required for meiotic nuclear division 1 homolog

OMIM:614922

NCBI chr 6:151,404,762...151,452,126
Ensembl chr 6:151,398,898...151,452,158

RNU7-1

RNA, U7 small nuclear 1

OMIM:619487

NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878

SAR1B

secretion associated Ras related GTPase 1B

ORPHA:71

NCBI chr 5:134,601,149...134,632,828
Ensembl chr 5:134,601,149...134,649,271

SCO1

synthesis of cytochrome C oxidase 1

OMIM:619048

NCBI chr17:10,672,474...10,697,533
Ensembl chr17:10,672,474...10,698,375

SKI

SKI proto-oncogene

ORPHA:1606

NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213

SLC25A13

solute carrier family 25 member 13

OMIM:603471 ORPHA:247585 ORPHA:247598

NCBI chr 7:96,120,220...96,322,098
Ensembl chr 7:96,120,220...96,322,147

SLC25A20

solute carrier family 25 member 20

OMIM:212138

NCBI chr 3:48,856,926...48,898,882
Ensembl chr 3:48,856,926...48,898,904

SLC37A4

solute carrier family 37 member 4

OMIM:619525

NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906

SLC40A1

solute carrier family 40 member 1

ORPHA:139491

NCBI chr 2:189,560,590...189,580,786
Ensembl chr 2:189,560,590...189,583,758

SPEN

spen family transcriptional repressor

ORPHA:1606

NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456

SPTBN1

spectrin beta, non-erythrocytic 1

OMIM:619475

NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,317...54,671,446

SUCLG1

succinate-CoA ligase GDP/ADP-forming subunit alpha

ORPHA:17

NCBI chr 2:84,423,528...84,459,280
Ensembl chr 2:84,423,528...84,460,045

TARS2

threonyl-tRNA synthetase 2, mitochondrial

OMIM:615918

NCBI chr 1:150,487,419...150,507,602
Ensembl chr 1:150,487,414...150,507,602

TBX1

T-box transcription factor 1

OMIM:188400

NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593

TKFC

triokinase and FMN cyclase

OMIM:618805

NCBI chr11:61,333,228...61,353,426
Ensembl chr11:61,333,220...61,353,295

TMEM199

transmembrane protein 199

OMIM:616829

NCBI chr17:28,357,647...28,363,683
Ensembl chr17:28,357,642...28,363,683

TRAPPC11

trafficking protein particle complex subunit 11

OMIM:615356 ORPHA:369840

NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594

UBE4B

ubiquitination factor E4B

ORPHA:1606

NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239

VCP

valosin containing protein

ORPHA:52430

NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668

XRCC4

X-ray repair cross complementing 4

ORPHA:436182

NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787

YARS1

tyrosyl-tRNA synthetase 1

ClinVar Annotator: match by term: Steatosis

PMID:29232904

NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031

ZPR1

ZPR1 zinc finger

OMIM:619321

NCBI chr11:116,773,799...116,788,023
Ensembl chr11:116,773,799...116,788,039

Increased hepatocellular lipid droplets

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

LRPPRC

leucine rich pentatricopeptide repeat containing

OMIM:220111

NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226

MT-TN

mitochondrially encoded tRNA-Asn (AAU/C)

OMIM:220110

NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729

MT-TS1

mitochondrially encoded tRNA-Ser (UCN) 1

OMIM:220110

NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514

SAR1B

secretion associated Ras related GTPase 1B

ORPHA:71

NCBI chr 5:134,601,149...134,632,828
Ensembl chr 5:134,601,149...134,649,271

SURF1

SURF1 cytochrome c oxidase assembly factor

OMIM:220110

NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676

Macrovesicular hepatic steatosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ADRB3

adrenoceptor beta 3

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

CPT2

carnitine palmitoyltransferase 2

OMIM:600649 OMIM:608836

NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197

CYP7A1

cytochrome P450 family 7 subfamily A member 1

ORPHA:209902

NCBI chr 8:58,490,178...58,500,163
Ensembl chr 8:58,490,178...58,500,163

DOCK2

dedicator of cytokinesis 2

OMIM:616433

NCBI chr 5:169,637,275...170,083,382
Ensembl chr 5:169,637,268...170,083,382

EARS2

glutamyl-tRNA synthetase 2, mitochondrial

OMIM:614924

NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,520,754...23,557,731

HFE

homeostatic iron regulator

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

LIG3

DNA ligase 3

ORPHA:298

NCBI chr17:34,980,512...35,010,872
Ensembl chr17:34,980,512...35,009,743

LYRM4

LYR motif containing 4

OMIM:615595

NCBI chr 6:5,031,753...5,260,950
Ensembl chr 6:5,103,629...5,260,950

MICOS13

mitochondrial contact site and cristae organizing system subunit 13

OMIM:618329

NCBI chr19:5,678,422...5,680,516
Ensembl chr19:5,678,421...5,680,516

MPV17

mitochondrial inner membrane protein MPV17

OMIM:256810

NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680

MTX2

metaxin 2

OMIM:619127

NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025

NAA10

N-alpha-acetyltransferase 10, NatA catalytic subunit

OMIM:300855

NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080

NDUFAF1

NADH:ubiquinone oxidoreductase complex assembly factor 1

OMIM:618234

NCBI chr15:41,387,353...41,403,026
Ensembl chr15:41,387,218...41,409,403

POLG

DNA polymerase gamma, catalytic subunit

ORPHA:298

NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861

RRM2B

ribonucleotide reductase regulatory TP53 inducible subunit M2B

ORPHA:298

NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961

TRMU

tRNA mitochondrial 2-thiouridylase

OMIM:613070

NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340

TYMP

thymidine phosphorylase

ORPHA:298

NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032

VPS33A

VPS33A core subunit of CORVET and HOPS complexes

OMIM:617303

NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,494

Microvesicular hepatic steatosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ACAD9

acyl-CoA dehydrogenase family member 9

OMIM:611126

NCBI chr 3:128,879,620...128,913,114
Ensembl chr 3:128,879,596...128,924,003

BCS1L

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

OMIM:124000

NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443

CARS2

cysteinyl-tRNA synthetase 2, mitochondrial

OMIM:616672

NCBI chr13:110,641,410...110,713,522
Ensembl chr13:110,641,412...110,713,603

DNAJC19

DnaJ heat shock protein family (Hsp40) member C19

OMIM:610198 ORPHA:66634

NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774

LRPPRC

leucine rich pentatricopeptide repeat containing

OMIM:220111

NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226

LYRM4

LYR motif containing 4

OMIM:615595

NCBI chr 6:5,031,753...5,260,950
Ensembl chr 6:5,103,629...5,260,950

MPV17

mitochondrial inner membrane protein MPV17

OMIM:256810

NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680

MRPL44

mitochondrial ribosomal protein L44

OMIM:615395

NCBI chr 2:223,950,854...223,967,714
Ensembl chr 2:223,957,463...223,967,714

NAA10

N-alpha-acetyltransferase 10, NatA catalytic subunit

OMIM:300855

NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080

NGLY1

N-glycanase 1

ORPHA:404454

NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039

NHLRC2

NHL repeat containing 2

OMIM:618278

NCBI chr10:113,854,661...113,917,194
Ensembl chr10:113,854,661...113,917,194

PIGA

phosphatidylinositol glycan anchor biosynthesis class A

OMIM:300868

NCBI chr X:15,319,451...15,335,554
Ensembl chr X:15,319,452...15,335,554

POLG

DNA polymerase gamma, catalytic subunit

OMIM:203700

NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861

SLC22A5

solute carrier family 22 member 5

OMIM:212140

NCBI chr 5:132,369,710...132,395,612
Ensembl chr 5:132,369,710...132,395,613

TFAM

transcription factor A, mitochondrial

OMIM:617156

NCBI chr10:58,385,410...58,399,220
Ensembl chr10:58,385,345...58,399,220

TRMU

tRNA mitochondrial 2-thiouridylase

OMIM:613070

NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340

UNC45A

unc-45 myosin chaperone A

OMIM:619377

NCBI chr15:90,930,180...90,954,093
Ensembl chr15:90,930,180...90,954,093

VPS4A

vacuolar protein sorting 4 homolog A

OMIM:619273

NCBI chr16:69,311,350...69,326,939
Ensembl chr16:69,311,350...69,326,939

YARS1

tyrosyl-tRNA synthetase 1

OMIM:619418