lipid storage disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	lipid storage disease	go back to main search page
Accession:	DOID:9455	browse the term
Definition:	A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues. (DO)
Synonyms:	exact_synonym:	Lipidoses; Lipidosis; Lipoidosis; inborn lipid storage disorder; lipoid storage diseas; steatosis
	primary_id:	MESH:D008064
	xref:	EFO:0008527; ICD10CM:E75.6; ICD9CM:272.7; ICD9CM:272.8

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Rat (852) Mouse (838) Human (23908) Chinchilla (750) Bonobo (795) Dog (825) Squirrel (754) Pig (812) Green Monkey (794) Naked Mole-rat (748) All
Genes (839) QTL (1) Strains (12)

lipid storage disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adaptor related protein complex 1 subunit sigma 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:19,625,267...19,635,792
Ensembl chr12:19,625,332...19,756,713

G

N-acylsphingosine amidohydrolase 1

CTD Direct Evidence: marker/mechanism

PMID:15342952 PMID:16919414

NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233

G

asparagine synthetase (glutamine-hydrolyzing)

CTD Direct Evidence: marker/mechanism

NCBI chr 4:35,784,995...35,803,474
Ensembl chr 4:35,785,237...35,803,423

G

DEPP autophagy regulator 1

CTD Direct Evidence: marker/mechanism

PMID:15342952 PMID:16919414 PMID:17175557

NCBI chr 4:149,910,794...149,913,013
Ensembl chr 4:149,910,779...149,914,542

G

fatty acid binding protein 1

CTD Direct Evidence: marker/mechanism

PMID:15342952 PMID:16919414

NCBI chr 4:103,191,015...103,194,791
Ensembl chr 4:103,191,006...103,194,788

G

fatty acid desaturase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:206,707,384...206,747,333
Ensembl chr 1:206,708,783...206,748,789

G

fibronectin type III domain containing 4

CTD Direct Evidence: marker/mechanism

PMID:15342952 PMID:16919414 PMID:17175557

NCBI chr 6:25,077,155...25,080,812
Ensembl chr 6:25,077,349...25,080,675

G

glycerophosphodiester phosphodiesterase domain containing 3

CTD Direct Evidence: marker/mechanism

PMID:15342952 PMID:16919414 PMID:17175557

NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063

G

hepsin

CTD Direct Evidence: marker/mechanism

PMID:15342952 PMID:16919414

NCBI chr 1:86,337,085...86,352,785
Ensembl chr 1:86,337,087...86,352,811

G

inhibin subunit beta E

CTD Direct Evidence: marker/mechanism

NCBI chr 7:63,176,221...63,179,209
Ensembl chr 7:63,176,219...63,179,172

G

lanosterol synthase

CTD Direct Evidence: marker/mechanism

PMID:15342952 PMID:16919414

NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762

G

nuclear receptor subfamily 0, group B, member 2

CTD Direct Evidence: marker/mechanism

PMID:15342952 PMID:16919414 PMID:17175557

NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609

G

nuclear protein 1, transcriptional regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 1:181,213,292...181,215,327
Ensembl chr 1:181,213,368...181,215,281

G

peroxisome proliferator-activated receptor gamma

CTD Direct Evidence: marker/mechanism

NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468

G

stearoyl-CoA desaturase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562

G

serpin family A member 3N

CTD Direct Evidence: marker/mechanism

PMID:15342952 PMID:16919414 PMID:17175557

NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433

G

solute carrier family 2 member 3

CTD Direct Evidence: marker/mechanism

PMID:15342952 PMID:16919414

NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472

G

sterol regulatory element binding transcription factor 1

RGD

NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650

G

sterol regulatory element binding transcription factor 2

RGD

NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848

G

transgelin

CTD Direct Evidence: marker/mechanism

PMID:15342952 PMID:16919414 PMID:17175557

NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668

G

WD repeat domain, phosphoinositide interacting 1

CTD Direct Evidence: marker/mechanism

PMID:15342952 PMID:16919414 PMID:17175557

NCBI chr10:94,542,946...94,580,174
Ensembl chr10:94,542,946...94,579,846

Alcoholic Fatty Liver

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adiponectin, C1Q and collagen domain containing

protein:increased expression:plasma

RGD

NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564

G

adiponectin receptor 2

treatment

RGD

PMID:26115886 PMID:18755807 PMID:27220557 PMID:22013387

RGD:25330099, RGD:25824943, RGD:25824939, RGD:25440493

NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355

G

adrenoceptor alpha 2A

protein:increased expression:liver (human)

RGD

NCBI chr 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365

G

AKT serine/threonine kinase 1

treatment

RGD

NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

G

aldehyde dehydrogenase 2 family member

severity
treatment
susceptibility

human transgene in mouse model
protein:altered processing:liver (mouse)
DNA:missense mutation:cds:p.E504K (human)

RGD

PMID:17058263 PMID:25457208 PMID:29156373 PMID:29063269

RGD:1599041, RGD:15036811, RGD:15036805, RGD:14696776

NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521

G

androgen receptor

severity

RGD

NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925

G

arrestin, beta 2

ameliorates

protein:increased expression:hepatocyte

RGD

PMID:33871024 PMID:33871024

RGD:401938594, RGD:401938594

NCBI chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850

G

autophagy related 7

exacerbates
ameliorates

RGD

PMID:31235522 PMID:34303881

RGD:407445921, RGD:407445922

NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593

G

baculoviral IAP repeat-containing 3

protein:increased expression:liver (human)

RGD

NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802

G

complement C1q C chain

CTD Direct Evidence: marker/mechanism

NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017

G

C-C motif chemokine ligand 2

treatment

RGD

PMID:25557254 PMID:30611703

RGD:14995489, RGD:407424594

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine receptor 2

treatment

RGD

NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100

G

C-C motif chemokine receptor 5

disease_progression

RGD

NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260

G

CD14 molecule

treatment

RGD

NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261

G

CD36 molecule

RGD

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

Cd68 molecule

treatment

RGD

PMID:23277536 PMID:29399060

RGD:407424596, RGD:407424599

NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697

G

C-reactive protein

protein:increased expression:serum:

RGD

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

cathepsin B

protein:increased activity:liver, cytosol (rat)

RGD

NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500

G

C-X-C motif chemokine ligand 1

ameliorates

RGD

NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215

G

cytochrome P450, family 2, subfamily e, polypeptide 1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:26428356 PMID:25583360 PMID:24064383

RGD:14700884, RGD:14700870

NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023

G

DNA methyltransferase 1

RGD

NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659

G

FKBP prolyl isomerase 5

ameliorates

mRNA,protein:incrased expression:liver (human)

NCBI chr20:6,457,207...6,575,404
Ensembl chr20:6,457,216...6,541,674

G

forkhead box O1

protein:increased expression:liver (human)

RGD

NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790

G

hepcidin antimicrobial peptide

mRNA:decreased expression:liver

RGD

NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891

G

lipopolysaccharide binding protein

treatment

RGD

NCBI chr 3:146,953,889...146,981,032
Ensembl chr 3:146,954,015...146,981,586

G

low density lipoprotein receptor

protein:decreased expression: liver (rat)

RGD

NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580

G

microRNA 155

RGD

NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718

G

NLR family, CARD domain containing 5

CTD Direct Evidence: marker/mechanism

NCBI chr19:10,477,638...10,581,023
Ensembl chr19:10,477,628...10,562,121

G

nuclear receptor subfamily 1, group H, member 3

treatment

RGD

NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722

G

occludin

treatment

RGD

NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150

G

phosphatidylethanolamine N-methyltransferase

RGD

NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013

G

peroxisome proliferator activated receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346

G

RELA proto-oncogene, NF-kB subunit

treatment

RGD

PMID:29399060 PMID:31116255

RGD:407424599, RGD:407424600

NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484

G

serpin family E member 1

mRNA:increased expression:liver (rat)

RGD

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

serpin family F member 1

protein:decreased expression:liver

RGD

NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646

G

superoxide dismutase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

superoxide dismutase 2

RGD

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

signal transducer and activator of transcription 4

RGD

NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540

G

TEA domain transcription factor 1

ameliorates

RGD

NCBI chr 1:166,791,900...167,010,591
Ensembl chr 1:166,792,628...167,003,369

G

transforming growth factor, beta 1

treatment

RGD

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

tight junction protein 1

treatment

RGD

NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432

G

toll-like receptor 2

treatment

RGD

NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630

G

toll-like receptor 4

severity
treatment

RGD

PMID:29884546 PMID:23277536 PMID:21463341

RGD:14697697, RGD:407424596, RGD:14700554

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

G

tumor necrosis factor

susceptibility
treatment

DNA:SNP:promoter:-238G>A (human)

RGD

PMID:9214463 PMID:29399060 PMID:20143470

RGD:14995434, RGD:407424599, RGD:38508901

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

ubiquitin D

protein:increased expression:liver (human)

RGD

NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,385,864...1,408,639
Ensembl chr20:1,385,864...1,408,639

Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat and IBR domain containing 1

ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas

NCBI chr 4:30,333,678...30,457,781
Ensembl chr 4:30,333,677...30,457,781

G

KRIT1, ankyrin repeat containing

ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas

PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359

atypical Gaucher's disease due to saposin C deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cadherin-related 23

ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency

PMID:25741868 PMID:28492532

NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419

G

prosaposin

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency

CTD
OMIM
ClinVar

PMID:1371116 PMID:2615292 PMID:6256275 PMID:8460394 PMID:8554069 More...

NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498

Atypical Krabbe Disease due to Saposin A Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cadherin-related 23

ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency

PMID:25741868 PMID:28492532

NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419

G

prosaposin

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency | ClinVar Annotator: match by term: Saposin A Deficiency

CTD
OMIM
ClinVar

PMID:9536098 PMID:15773042 PMID:17576681 PMID:25741868 PMID:26822237 More...

NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498

cerebrotendinous xanthomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angio-associated, migratory cell protein

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:75,863,382...75,869,188
Ensembl chr 9:75,863,389...75,868,547

G

ATP binding cassette subfamily B member 6

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924

G

ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,688,194...76,695,162
Ensembl chr 9:76,688,194...76,696,469

G

actin related protein 2/3 complex, subunit 2

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471

G

acid sensing ion channel subunit family member 4

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,941,532...76,962,900
Ensembl chr 9:76,941,532...76,962,900

G

autophagy related 9A

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,677,403...76,688,050
Ensembl chr 9:76,677,404...76,687,986

G

ciliogenesis associated TTC17 interacting protein

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:75,945,960...75,953,618
Ensembl chr 9:75,945,961...75,953,607

G

cyclin-dependent kinase 5 regulatory subunit 2

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,416,251...76,417,719
Ensembl chr 9:76,416,062...76,418,344

G

cilia and flagella associated protein 65

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128

G

chondroitin polymerizing factor

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,963,178...76,967,878
Ensembl chr 9:76,963,184...76,967,878

G

CCR4-NOT transcription complex subunit 9

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100

G

cyclin Pas1/PHO80 domain containing 1

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188

G

crystallin, beta A2

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460

G

CTD small phosphatase 1

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:75,973,694...75,979,298
Ensembl chr 9:75,973,962...75,979,297

G

C-X-C motif chemokine receptor 1

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:75,766,770...75,771,084

G

C-X-C motif chemokine receptor 2

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425

G

cytochrome P450, family 27, subfamily a, polypeptide 1

OMIM:213700, R446C, R362C
ClinVar Annotator: match by term: Cholestanol storage disease
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

PMID:2019602 PMID:7697869 PMID:7860076 PMID:7915755 PMID:8006521 More...

NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551

G

desmin

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699

G

DnaJ heat shock protein family (Hsp40) member B2

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277

G

aspartyl aminopeptidase

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716

G

FEV transcription factor, ETS family member

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065

G

galactosidase, beta 1-like

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,693,325...76,705,548
Ensembl chr 9:76,695,173...76,705,510

G

GDP-mannose pyrophosphorylase A

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269

G

G protein-coupled bile acid receptor 1

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:75,860,758...75,863,260
Ensembl chr 9:75,860,677...75,863,168

G

Indian hedgehog signaling molecule

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532

G

microRNA 26b

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680

G

microRNA 375

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985

G

nonhomologous end-joining factor 1

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444

G

obscurin like cytoskeletal adaptor 1

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,967,802...76,993,771
Ensembl chr 9:76,974,253...76,993,560

G

phospholipase C, delta 4

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,115,523...76,158,602
Ensembl chr 9:76,117,168...76,142,453

G

PNKD metallo-beta-lactamase domain containing

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124

G

protein kinase AMP-activated non-catalytic subunit gamma 3

ClinVar Annotator: match by term: Cholestanol storage disease

PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532

NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959

G

proline-rich transmembrane protein 2

ClinVar Annotator: match by term: Cholestanol storage disease

PMID:25741868 PMID:28492532 PMID:28590052

NCBI chr 1:181,625,243...181,628,833
Ensembl chr 1:181,604,545...181,628,850

G

protein tyrosine phosphatase, receptor type, N

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190

G

regulated endocrine-specific protein 18

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722

G

reticulophagy regulator family member 2

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395

G

ring finger protein 25

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,170,037...76,176,924
Ensembl chr 9:76,170,037...76,176,849

G

solute carrier family 11 member 1

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101

G

solute carrier family 23, member 3

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,622,621...76,633,188
Ensembl chr 9:76,622,800...76,631,366

G

striated muscle enriched protein kinase

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144

G

serine/threonine kinase 16

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855

G

serine/threonine kinase 36

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422

G

transmembrane BAX inhibitor motif containing 1

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:75,871,835...75,889,366
Ensembl chr 9:75,871,835...75,889,069

G

transmembrane protein 198

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,968,079...76,974,131
Ensembl chr 9:76,968,107...77,033,011

G

tubulin tyrosine ligase like 4

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,221,659...76,258,219
Ensembl chr 9:76,221,796...76,251,301

G

tubulin, alpha 4A

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918

G

ubiquitin specific peptidase 37

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,018,863...76,118,732
Ensembl chr 9:76,018,991...76,084,044

G

villin 1

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858

G

Wnt family member 10A

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400

G

Wnt family member 6

ClinVar Annotator: match by term: Cholestanol storage disease

PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532

NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523

G

zinc finger AN1-type containing 2B

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445

G

zinc finger protein 142

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856

Chanarin-Dorfman syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

abhydrolase domain containing 5, lysophosphatidic acid acyltransferase

ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis
ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis
OMIM:275630
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:545139 PMID:3354610 PMID:6181472 PMID:7362208 PMID:11590543 More...

NCBI chr 8:122,000,241...122,026,447
Ensembl chr 8:122,000,389...122,026,447

G

anoctamin 10

ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis

PMID:11590543 PMID:25741868 PMID:28492532

NCBI chr 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670

G

cadherin-related family member 5

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,373,110...196,381,609
Ensembl chr 1:196,373,112...196,381,543

G

cell cycle exit and neuronal differentiation 1

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,525,153...196,528,152
Ensembl chr 1:196,523,920...196,528,302

G

DEAF1 transcription factor

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541

G

dopamine receptor D4

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553

G

EPS8-like 2

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,446,260...196,471,544
Ensembl chr 1:196,446,287...196,471,541

G

glutamine amidotransferase class 1 domain containing 1

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,504,533...196,512,561
Ensembl chr 1:196,504,833...196,512,551

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

G

interferon regulatory factor 7

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,367,380...196,370,943
Ensembl chr 1:196,367,361...196,370,832

G

lamin tail domain containing 2

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,315,112...196,320,880
Ensembl chr 1:196,315,115...196,319,156

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172

G

microRNA 210

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454

G

PHD and ring finger domains 1

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892

G

p53-induced death domain protein 1

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699

G

patatin-like phospholipase domain containing 2

ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis

PMID:9536098 PMID:16199547 PMID:16644682 PMID:17187067 PMID:17576681 More...

NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805

G

Ras association domain family member 7

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,319,600...196,323,787
Ensembl chr 1:196,320,902...196,323,770

G

ribosomal protein lateral stalk subunit P2

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,546,086...196,548,636
Ensembl chr 1:196,546,352...196,548,645

G

secretin

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,382,857...196,383,668
Ensembl chr 1:196,382,856...196,383,658

G

solute carrier family 25 member 22

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331

G

transaldolase 1

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974

G

transmembrane protein 80

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,435,999...196,444,368
Ensembl chr 1:196,436,003...196,444,367
Ensembl chr 1:196,436,003...196,444,367

Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chloride voltage-gated channel 6

ClinVar Annotator: match by term: CLCN6-related condition | ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities

PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33217309 More...

NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059

cholesterol ester storage disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lipase A, lysosomal acid type

ClinVar Annotator: match by term: Cholesteryl ester storage disease
CTD Direct Evidence: marker/mechanism

ClinVar
OMIM
CTD
RGD

PMID:2129132 PMID:7499245 PMID:7751811 PMID:7759067 PMID:8146180 More...

NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633

G

translocator protein

RGD

NCBI chr 7:114,720,188...114,730,450
Ensembl chr 7:114,720,188...114,730,450

G

translocator protein; ZFN induced mutant1, Vpl

RGD

G

translocator protein; ZFN induced mutant2, Vpl

RGD

combined saposin deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activating signal cointegrator 1 complex subunit 1

ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency

NCBI chr20:27,941,053...28,031,272
Ensembl chr20:27,941,283...28,031,272

G

cadherin-related 23

ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency

PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More...

NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419

G

carbohydrate sulfotransferase 3

ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency

NCBI chr20:28,114,386...28,152,046
Ensembl chr20:28,114,404...28,121,807

G

prosaposin

ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
OMIM:611721
CTD Direct Evidence: marker/mechanism

ClinVar
OMIM
MouseDO
CTD

PMID:1350885 PMID:1371116 PMID:2019586 PMID:2302219 PMID:2320574 More...

NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498

G

SPARC/osteonectin, cwcv and kazal like domains proteoglycan 2

ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency

NCBI chr20:28,037,334...28,064,272
Ensembl chr20:28,033,475...28,064,272

G

V-set immunoregulatory receptor

ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency

NCBI chr20:28,281,582...28,307,262
Ensembl chr20:28,281,596...28,303,878

Congenital Visceral Steatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine kinase

RGD

NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510

Fabry disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

treatment

RGD

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

angiotensinogen

severity

DNA:polymorphism:promoter:

RGD

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

androgen receptor

treatment

RGD

NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925

G

Bruton tyrosine kinase

ClinVar Annotator: match by term: Fabry disease

PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More...

NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853

G

dystrophin related protein 2

ClinVar Annotator: match by term: Fabry disease

PMID:10666480 PMID:12175777 PMID:28492532

NCBI chr X:97,607,577...97,658,117
Ensembl chr X:97,607,719...97,655,684

G

galactosylceramidase

ClinVar Annotator: match by term: Fabry disease

PMID:25741868 PMID:33547378 PMID:37597066

NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830

G

galactosidase, alpha

DNA:point mutation:exon:R356W
ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease
compared to wild type
OMIM:301500
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:105759 PMID:1315304 PMID:1315715 PMID:1650161 PMID:1668641 More...

RGD:1601350, RGD:401976416, RGD:401976418, RGD:401976419, RGD:150429980

NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664

G

galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin

compared to wild type

RGD

PMID:29563343 PMID:29979634 PMID:34320241 PMID:34541380

RGD:150429980, RGD:401976416, RGD:401976418, RGD:401976419

G

heterogeneous nuclear ribonucleoprotein H2

ClinVar Annotator: match by term: Fabry disease

PMID:7531540 PMID:10666480 PMID:11889412 PMID:12175777 PMID:15661032 More...

NCBI chr X:97,780,890...97,786,846
Ensembl chr X:97,780,785...97,787,041

G

interleukin 1 alpha

DNA:SNP:promoter:-889C>T (human)

RGD

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

myosin light chain kinase 2

ClinVar Annotator: match by term: Fabry disease

NCBI chr 3:141,376,450...141,388,357
Ensembl chr 3:141,376,691...141,387,728

G

ribosomal protein L36A

ClinVar Annotator: match by term: Fabry disease

PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More...

NCBI chr X:97,766,179...97,768,892
Ensembl chr X:97,766,179...97,768,892

G

TATA-box binding protein associated factor 7-like

ClinVar Annotator: match by term: Fabry disease

PMID:10666480 PMID:12175777 PMID:28492532

NCBI chr X:97,660,222...97,675,241
Ensembl chr X:97,660,222...97,675,023

G

translocase of inner mitochondrial membrane 8A1

ClinVar Annotator: match by term: Fabry disease

PMID:10666480 PMID:12175777 PMID:28492532

NCBI chr X:97,717,932...97,722,170
Ensembl chr X:97,717,920...97,721,960

G

vitamin D receptor

susceptibility

DNA:SNPs,haplotype: :

RGD

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

Fabry Disease, Cardiac Variant

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

galactosidase, alpha

ClinVar Annotator: match by term: Fabry disease, cardiac variant

PMID:105759 PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 More...

NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664

Farber lipogranulomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N-acylsphingosine amidohydrolase 1

ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar Annotator: match by term: Farber's lipogranulomatosis | ClinVar Annotator: match by term: N-Laurylsphingosine deacylase deficiency
OMIM:228000
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:3037247 PMID:8955159 PMID:9128814 PMID:9536098 PMID:10610716 More...

NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

Gaucher's disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

CTD Direct Evidence: marker/mechanism

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

Bardet-Biedl syndrome 4

ClinVar Annotator: match by term: Acid beta-glucosidase deficiency

PMID:11381270 PMID:12016587 PMID:16199547 PMID:20177705 PMID:25741868 More...

NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607

G

chitinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:45,565,841...45,613,593
Ensembl chr13:45,593,845...45,613,592

G

elongator acetyltransferase complex subunit 1

ClinVar Annotator: match by term: Gaucher disease

NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762

G

glucosylceramidase beta 1

ClinVar Annotator: match by term: Acid beta-glucosidase deficiency | ClinVar Annotator: match by term: Gaucher disease | ClinVar Annotator: match by term: Kerasin thesaurismosis
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds, intron:multiple (human)
DNA:missense mutations, deletion:cds:multiple (human)

ClinVar
MouseDO
CTD
RGD

PMID:1301953 PMID:1333717 PMID:1348297 PMID:1415223 PMID:1487244 More...

RGD:5508423, RGD:12791018, RGD:12791017, RGD:5508431

NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263

G

interleukin 4

protein:increased expression:lung

RGD

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

G

mutS homolog 6

ClinVar Annotator: match by term: Acid beta-glucosidase deficiency

NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956

G

pyruvate kinase L/R

DNA:repeats:intron:IVS11+?(ATT)5 (human)

RGD

NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870

G

periaxin

ClinVar Annotator: match by term: Kerasin thesaurismosis

PMID:11133365 PMID:25614874 PMID:28492532 PMID:36833258

NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407

G

sphingomyelin phosphodiesterase 1

ClinVar Annotator: match by term: Gaucher disease

PMID:25741868 PMID:28492532

NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794

G

synuclein alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262

G

tumor necrosis factor

severity

DNA:SNP:promoter:-308G>A (human)

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

titin

ClinVar Annotator: match by term: GBA DEFICIENCY

NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741

Gaucher's disease perinatal lethal

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glucosylceramidase beta 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gaucher disease collodion type | ClinVar Annotator: match by term: Gaucher disease perinatal lethal

CTD
ClinVar
OMIM

PMID:1333717 PMID:1348297 PMID:1864608 PMID:1897529 PMID:1899336 More...

NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263

Gaucher's disease type I

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Bardet-Biedl syndrome 4

ClinVar Annotator: match by term: Gaucher disease, noncerebral juvenile

PMID:11381270 PMID:12016587 PMID:16199547 PMID:20177705 PMID:25741868 More...

NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607

G

glucosylceramidase beta 1

OMIM:230800
ClinVar Annotator: match by term: Gaucher disease type I

MouseDO
OMIM
ClinVar

PMID:1301953 PMID:1333717 PMID:1348297 PMID:1415223 PMID:1487244 More...

NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263

G

mutS homolog 6

ClinVar Annotator: match by term: Gaucher disease, noncerebral juvenile

NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956

G

thrombospondin 3

ClinVar Annotator: match by term: Gaucher disease type I

NCBI chr 2:174,621,788...174,633,594
Ensembl chr 2:174,621,812...174,633,594

G

titin

ClinVar Annotator: match by term: GD I

NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741

Gaucher's disease type II

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glucosylceramidase beta 1

OMIM:230900
ClinVar Annotator: match by term: Acute cerebral Gaucher disease | ClinVar Annotator: match by term: Gaucher disease type II | ClinVar Annotator: match by term: Gaucher disease, acute neuronopathic type

MouseDO
ClinVar
OMIM

PMID:1301953 PMID:1333717 PMID:1348297 PMID:1415223 PMID:1558964 More...

NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263

G

periaxin

ClinVar Annotator: match by term: Acute cerebral Gaucher disease

PMID:11133365 PMID:25614874 PMID:28492532 PMID:36833258

NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407

Gaucher's disease type III

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glucosylceramidase beta 1

ClinVar Annotator: match by term: Gaucher disease type III | ClinVar Annotator: match by term: Gaucher disease, subacute neuronopathic type

PMID:1301953 PMID:1333717 PMID:1348297 PMID:1704891 PMID:1840477 More...

NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263

Gaucher's disease type IIIC

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glucosylceramidase beta 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE IIIC | ClinVar Annotator: match by term: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

CTD
ClinVar
OMIM

PMID:1333717 PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 More...

NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263

glycoproteinosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

choline phosphotransferase 1

ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy

PMID:16200072 PMID:16465621 PMID:16630736 PMID:19634183 PMID:25741868 More...

NCBI chr 7:22,866,455...22,915,111
Ensembl chr 7:22,863,027...22,915,103

G

N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy
ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Type III Mucolipidosis

PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16199547 More...

NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933

G

N-acetylglucosamine-1-phosphate transferase subunit gamma

mucolipidosis IIIC

RGD

NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096

G

mucolipin TRP cation channel 1

RGD

NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252

G

neuraminidase 1

OMIM:256550
ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Sialidosis
ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Sialidosis

MouseDO
ClinVar

PMID:9054950 PMID:9536098 PMID:10767332 PMID:10944856 PMID:11063730 More...

NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745

G

sarcoglycan, beta

ClinVar Annotator: match by term: Sialidosis

PMID:9032047 PMID:28492532 PMID:33250842

NCBI chr14:34,563,614...34,578,614
Ensembl chr14:34,563,608...34,578,583

GM1 gangliosidosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

galactosidase, beta 1

treatment

ClinVar Annotator: match by term: Beta galactosidase 1 deficiency | ClinVar Annotator: match by term: GLB1 DEFICIENCY | ClinVar Annotator: match by term: GLB1 deficiency | ClinVar Annotator: match by term: GM1 gangliosidosis
ClinVar Annotator: match by term: Beta galactosidase 1 deficiency | ClinVar Annotator: match by term: GLB1 DEFICIENCY | ClinVar Annotator: match by term: GM1 gangliosidosis
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:

ClinVar
MouseDO
CTD
RGD

PMID:1353343 PMID:1487238 PMID:1907800 PMID:1909089 PMID:1928092 More...

RGD:1598983, RGD:11086251, RGD:12910453

NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: GLB1 deficiency

PMID:10961955 PMID:15840476 PMID:16712702 PMID:19716085 PMID:21193062 More...

NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769

G

transmembrane protein with metallophosphoesterase domain

ClinVar Annotator: match by term: GLB1 DEFICIENCY | ClinVar Annotator: match by term: GM1 gangliosidosis

PMID:16941474 PMID:25741868 PMID:28492532

NCBI chr 8:114,085,497...114,093,388
Ensembl chr 8:114,084,831...114,094,286

GM1 gangliosidosis type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cadherin 1

ClinVar Annotator: match by term: Gangliosidosis, generalized GM1, infantile form

PMID:25741868 PMID:28492532

NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775

G

galactosidase, beta 1

ClinVar Annotator: match by term: GM1 gangliosidosis type 1 | ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1 | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis
ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis

PMID:1353343 PMID:1487238 PMID:1606711 PMID:1907800 PMID:1909089 More...

NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: Gangliosidosis, generalized GM1, infantile form

PMID:10961955 PMID:15840476 PMID:16712702 PMID:19716085 PMID:21193062 More...

NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769

G

transmembrane protein with metallophosphoesterase domain

ClinVar Annotator: match by term: Infantile GM1 gangliosidosis

PMID:8198123 PMID:8199591 PMID:9536098 PMID:16199547 PMID:16941474 More...

NCBI chr 8:114,085,497...114,093,388
Ensembl chr 8:114,084,831...114,094,286

GM1 gangliosidosis type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

galactosidase, beta 1

ClinVar Annotator: match by term: GM1 gangliosidosis type 2

PMID:1353343 PMID:1487238 PMID:1606711 PMID:1907800 PMID:1909089 More...

NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127

G

transmembrane protein with metallophosphoesterase domain

ClinVar Annotator: match by term: GM1 gangliosidosis type 2

PMID:8198123 PMID:8199591 PMID:9536098 PMID:16199547 PMID:16941474 More...

NCBI chr 8:114,085,497...114,093,388
Ensembl chr 8:114,084,831...114,094,286

GM1 gangliosidosis type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

galactosidase, beta 1

ClinVar Annotator: match by term: GM1 gangliosidosis type 3 | ClinVar Annotator: match by term: Type 3 (adult) GM1 gangliosidosis

PMID:1353343 PMID:1907800 PMID:1909089 PMID:6791574 PMID:8068159 More...

NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127

G

transmembrane protein with metallophosphoesterase domain

ClinVar Annotator: match by term: GM1 gangliosidosis type 3

PMID:8198123 PMID:8199591 PMID:9536098 PMID:16941474 PMID:17576681 More...

NCBI chr 8:114,085,497...114,093,388
Ensembl chr 8:114,084,831...114,094,286

GM2 gangliosidosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ganglioside GM2 activator

Tay-Sachs Disease, AB Variant

RGD

NCBI chr10:39,219,221...39,231,756
Ensembl chr10:39,219,243...39,231,757

G

hexosaminidase subunit alpha

ClinVar Annotator: match by term: Gm2-gangliosidosis, late onset

PMID:1483696 PMID:2145759 PMID:2278539 PMID:2522660 PMID:2522679 More...

NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013

G

synuclein alpha

protein:increased expression:brain

RGD

NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262

G

synuclein, beta

protein:increased expression:brain

RGD

NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012

GM2 Gangliosidosis, AB variant

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ganglioside GM2 activator

ClinVar Annotator: match by term: Tay-Sachs disease, variant AB
OMIM:272750
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:174379 PMID:1570834 PMID:1915858 PMID:8244332 PMID:8900233 More...

NCBI chr10:39,219,221...39,231,756
Ensembl chr10:39,219,243...39,231,757

G

hexosaminidase subunit alpha

ClinVar Annotator: match by term: Tay-Sachs disease, variant AB

PMID:1301938 PMID:1307230 PMID:1830584 PMID:1833974 PMID:2294750 More...

NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013

G

solute carrier family 36 member 2

ClinVar Annotator: match by term: Tay-Sachs disease, variant AB

NCBI chr10:39,278,002...39,306,082
Ensembl chr10:39,278,046...39,306,082

G

solute carrier family 36, member 3

ClinVar Annotator: match by term: Tay-Sachs disease, variant AB

NCBI chr10:39,243,531...39,273,433
Ensembl chr10:39,243,595...39,270,567

Gm2-Gangliosidosis, Adult Chronic Type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hexosaminidase subunit alpha

ClinVar Annotator: match by term: GM2-gangliosidosis, adult-onset | ClinVar Annotator: match by term: Gm2-gangliosidosis, adult

PMID:1483696 PMID:1532289 PMID:2145759 PMID:2278539 PMID:2522660 More...

NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013

Gm2-Gangliosidosis, Variant B1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hexosaminidase subunit alpha

ClinVar Annotator: match by term: Gm2-gangliosidosis, variant b1

NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013

Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apolipoprotein E

ClinVar Annotator: match by term: Hyperlipemia with familial hypercholesterolemic xanthomatosis

PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 More...

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

Krabbe disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cadherin-related 23

ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency

PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More...

NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419

G

galactosylceramidase

ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Globoid cell leukoencephalopathy
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell
OMIM:245200
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD
RGD

PMID:3362311 PMID:7437911 PMID:7581365 PMID:8281145 PMID:8297359 More...

NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830

G

prosaposin

OMIM:245200
ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell

MouseDO
ClinVar

PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More...

NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498

G

spermatogenesis associated 7

ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency

NCBI chr 6:117,879,828...117,925,284
Ensembl chr 6:117,879,823...117,925,284

lysosomal acid lipase deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lipase A, lysosomal acid type

OMIM:278000
ClinVar Annotator: match by term: Acid lipase disease | ClinVar Annotator: match by term: Lysosomal acid lipase deficiency

MouseDO
ClinVar

PMID:2129132 PMID:3118057 PMID:7499245 PMID:7751811 PMID:7759067 More...

NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633

metabolic dysfunction-associated steatohepatitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 1

treatment

RGD

NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170

G

acetyl-CoA carboxylase alpha

treatment

RGD

NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457

G

alkaline ceramidase 3

treatment
disease_progression

mRNA:increased expression:liver

RGD

PMID:31949129 PMID:31949129 PMID:31949129

RGD:35673324, RGD:35673324, RGD:35673324

NCBI chr 1:152,504,180...152,606,596
Ensembl chr 1:152,504,186...152,606,591

G

actin alpha 2, smooth muscle

mRNA:increased expression:liver (mouse)

RGD

NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554

G

adiponectin receptor 2

susceptibility
treatment

mRNA:decreased expression:liver (rat)
associated with obesity
associated with obesity;protein:decreased expression:liver (mouse)

RGD

PMID:20606728 PMID:30131158 PMID:20965162 PMID:18666257 PMID:19763702

RGD:21076282, RGD:25824942, RGD:25440494, RGD:25330095, RGD:25330094

NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355

G

adrenoceptor alpha 2A

protein:increased expression:liver (human)

RGD

NCBI chr 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365

G

apolipoprotein A1

treatment

human gene in mouse model
mRNA, protein: increased expression:liver, serum (rat)

RGD

PMID:24793484 PMID:30187493

RGD:21408551, RGD:25671434

NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035

G

autophagy related 12

treatment

RGD

NCBI chr18:39,452,247...39,462,424
Ensembl chr18:39,452,191...39,462,418

G

autophagy related 5

treatment

RGD

NCBI chr20:47,798,217...47,889,216
Ensembl chr20:47,798,290...47,889,209

G

autophagy related 7

treatment

RGD

NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593

G

alpha-2-glycoprotein 1, zinc-binding

treatment

associated with type 2 diabetes mellitus;

RGD

NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091

G

baculoviral IAP repeat-containing 3

protein:increased expression:liver (human)

RGD

NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802

G

BCL2 interacting protein 3 like

treatment

RGD

NCBI chr15:41,174,594...41,197,730
Ensembl chr15:41,174,594...41,197,803

G

C-C motif chemokine ligand 2

susceptibility

RNA:increased expression:liver:
mRNA:altered expression:liver (mouse)
mRNA:increased expression:liver (rat)

RGD

PMID:24429361 PMID:24294355 PMID:20606728 PMID:30369082

RGD:14975280, RGD:407446378, RGD:21076282, RGD:14995462

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 5

protein:increased expression:serum:

RGD

NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377

G

Cd68 molecule

disease_progression
severity

protein:increased expression:liver (rat)
protein:increased expression:liver (mouse)
protein:decreased expression:liver (human)
protein:increased expression:blood serum (human)

RGD

PMID:28951310 PMID:24294355 PMID:31337151 PMID:21635548

RGD:407420265, RGD:407446378, RGD:407446377, RGD:407420270

NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697

G

claudin 1

mRNA:increased expression:distal colon (rat)

RGD

NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724

G

collagen type I alpha 1 chain

ameliorates
treatment

RGD

PMID:28100771 PMID:33315911

RGD:127285675, RGD:407420266

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

carnitine palmitoyltransferase 1A

treatment

RGD

NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055

G

C-X-C motif chemokine ligand 10

severity

mRNA,protein:increased expression:liver,serum

RGD

PMID:25048951 PMID:25048951

RGD:27095890, RGD:27095890

NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975

G

cytochrome P450, family 27, subfamily a, polypeptide 1

mRNA:increased expression:liver (human)

RGD

NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551

G

cytochrome P450 family 7 subfamily A member 1

treatment

mRNA:increased expression:liver (human)
mRNA, protein:altered expression:liver (rat) treatment with INT-767

RGD

PMID:28774887 PMID:30038487

RGD:15045601, RGD:15092090

NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688

G

G protein-coupled bile acid receptor 1

treatment

mRNA, protein:altered expression:liver (rat) treatment with INT-767

RGD

NCBI chr 9:75,860,758...75,863,260
Ensembl chr 9:75,860,677...75,863,168

G

heat shock protein family A (Hsp70) member 5

disease_progression

mRNA,protein:increased expression:liver (rat)

RGD

NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891

G

5-hydroxytryptamine receptor 2B

associated with morbid obesity;mRNA:decreased expression:liver

RGD

NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108

G

intercellular adhesion molecule 1

protein:increased expression:blood serum (human)

RGD

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

isocitrate dehydrogenase (NADP(+)) 2

ameliorates

RGD

NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025

G

interferon gamma

ameliorates

RGD

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

interleukin 10

DNA:SNP:promoter:-1082A>G (rs1800896) (human)

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 1 beta

ameliorates

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 6

ameliorates

DNA:SNP:promoter:-174��G/C (human)

RGD

PMID:28852433 PMID:28100771

RGD:14975143, RGD:127285675

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

interferon regulatory factor 5

mRNA:increased expression:liver

RGD

NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267

G

Janus kinase 2

ameliorates

RGD

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

keratin 18

severity

protein:increased degradation:plasma (human)
protein:altered degradation:liver, serum (rat)
protein:increased expression:serum (human)
associated with morbid obesity;protein:increased degradation: plasma(human)
protein:increased degradation:serum (human)

PMID:19585618 PMID:24071521 PMID:21993925 PMID:18995215 PMID:19333204 More...

RGD:18337489, RGD:27226810, RGD:18337499, RGD:18337495, RGD:18337493, RGD:18337490

NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166

G

leptin receptor

susceptibility

DNA:SNPs: :rs1137100,rs1137101(human)

RGD

NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908

G

melanocortin 4 receptor

NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719

G

MCL1 apoptosis regulator, BCL2 family member

RGD

NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303

G

microRNA 21

ameliorates

RNA:increased expression:liver

RGD

PMID:26338827 PMID:26338827

RGD:41404659, RGD:41404659

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

G

microRNA 221

treatment
disease_progression

RGD

PMID:30316865 PMID:22267590

RGD:18337274, RGD:151709001

NCBI chr X:3,429,465...3,429,573
Ensembl chr X:3,429,465...3,429,573

G

microRNA 222

disease_progression

RGD

NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006

G

microRNA 223

treatment

RNA:increased expression:liver:

RGD

PMID:31585800 PMID:30964207 PMID:30964207

RGD:21408547, RGD:21408549, RGD:21408549

NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996

G

MLX interacting protein-like

treatment

RGD

NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112

G

matrix metallopeptidase 13

mRNA:altered expression:liver (mouse)

RGD

NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239

G

matrix metallopeptidase 9

mRNA:altered expression:liver (mouse)

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

MYD88, innate immune signal transduction adaptor

treatment

RGD

NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415

G

NFE2 like bZIP transcription factor 2

treatment

RGD

NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737

G

nuclear factor kappa B subunit 1

treatment

mRNA, protein:altered expression:liver (rat) treatment with INT-767

RGD

NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404

G

NADPH oxidase 4

susceptibility

mRNA:increased expression:liver (rat)

RGD

NCBI chr 1:140,900,886...141,078,844
Ensembl chr 1:140,901,097...141,077,406

G

nuclear receptor subfamily 1, group H, member 4

treatment

mRNA:increased expression:liver (human)
mRNA, protein:altered expression:liver (rat) treatment with INT-767

RGD

PMID:28774887 PMID:30038487

RGD:15045601, RGD:15092090

NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047

G

phosphoenolpyruvate carboxykinase 1

treatment

mRNA, protein:altered expression:liver (rat) treatment with INT-767

RGD

NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191

G

platelet derived growth factor receptor beta

treatment

RGD

NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843

G

PTEN induced kinase 1

treatment

RGD

NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635

G

parkin RBR E3 ubiquitin protein ligase

treatment

RGD

NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555

G

receptor-interacting serine-threonine kinase 3

mRNA:increased expression:liver (human)

RGD

NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121

G

stearoyl-CoA desaturase

treatment

RGD

NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562

G

serpin family F member 1

treatment

human gene in a mouse model
protein:increased expression:serum (human)

RGD

PMID:28365916 PMID:26121037

RGD:27226700, RGD:27226705

NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646

G

SMAD family member 4

protein:increased expression:liver:

RGD

PMID:29696816 PMID:29696816

RGD:18937002, RGD:18937002

NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438

G

superoxide dismutase 1

susceptibility

mRNA:decreased expression:liver (rat)

RGD

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

superoxide dismutase 2

susceptibility

mRNA:decreased expression:liver (rat)

RGD

PMID:20606728 PMID:24649902

RGD:21076282, RGD:26923960

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

sterol regulatory element binding transcription factor 1

treatment

mRNA, protein:altered expression:liver (rat) treatment with INT-767

RGD

PMID:30038487 PMID:28458350

RGD:15092090, RGD:401799674

NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650

G

TIMP metallopeptidase inhibitor 1

treatment

RGD

NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664

G

toll-like receptor 2

RGD

NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630

G

toll-like receptor 9

disease_progression

mRNA, protein:increased expression:serum, liver (mouse)

RGD

NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796

G

tumor necrosis factor

susceptibility

mRNA:increased expression:liver (rat)
mRNA:increased expression:liver (mouse)

RGD

PMID:20606728 PMID:28100771

RGD:21076282, RGD:127285675

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

thioredoxin interacting protein

RGD

NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886

G

ubiquitin D

protein:increased expression:liver (human)

RGD

NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,385,864...1,408,639
Ensembl chr20:1,385,864...1,408,639

G

unc-51 like autophagy activating kinase 1

treatment

RGD

NCBI chr12:45,851,710...45,877,966
Ensembl chr12:45,851,710...45,877,966

metabolic dysfunction-associated steatotic liver disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1A

mRNA:increased expression:liver (rat)

RGD

NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709

G

ATP-binding cassette, sub-family B member 1B

mRNA:increased expression:liver (rat)

RGD

NCBI chr 4:25,242,761...25,325,194
Ensembl chr 4:25,242,798...25,325,199

G

ATP binding cassette subfamily B member 4

CTD Direct Evidence: marker/mechanism

NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202

G

ATP binding cassette subfamily C member 2

severity

CTD Direct Evidence: marker/mechanism
DNA:SNPs:exon:p.Glu1188Val(rs17222723),p.Tyr1515Cys(rs8187710)(human)

CTD
RGD

PMID:29341352 PMID:18926681

NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238

G

ATP binding cassette subfamily C member 3

protein:increased expression:liver

RGD

NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595

G

ATP binding cassette subfamily G member 5

disease_progression

mRNA:increased expression:liver (rat)

RGD

NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563

G

ATP binding cassette subfamily G member 8

disease_progression

mRNA:decreased expression:liver (rat)

RGD

NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912

G

acetyl-CoA carboxylase alpha

treatment

RGD

NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457

G

acetyl-CoA carboxylase beta

treatment

RGD

NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655

G

acyl-CoA dehydrogenase medium chain

treatment

RGD

NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147

G

acyl-CoA dehydrogenase, very long chain

treatment

RGD

PMID:22569299 PMID:23076603

RGD:10047121, RGD:10047124

NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075

G

angiotensin I converting enzyme

CTD Direct Evidence: marker/mechanism

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

aconitase 1

protein:increased activity:liver

RGD

NCBI chr 5:55,259,841...55,315,872
Ensembl chr 5:55,259,827...55,316,391

G

actin, beta

protein:increased carbonylation:liver

RGD

NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877

G

ADAM metallopeptidase with thrombospondin type 1 motif, 13

mRNA, protein:increased expression, increased activity:liver, plasma (rat)

RGD

NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687

G

alcohol dehydrogenase 4 (class II), pi polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr 2:226,948,717...226,966,747
Ensembl chr 2:226,947,466...226,987,591

G

adiponectin, C1Q and collagen domain containing

susceptibility
treatment
disease_progression

protein:decreased expression:serum
DNA:SNPs:5'utr, :-11377C>G, +45T>G (rs266729, rs2241766) (human)
associated with type 2 diabetes mellitus;DNA:SNP:5' utr:-11377C>G (rs266729) (human)
DNA:hypermethylation
CTD Direct Evidence: marker/mechanism
mRNA, protein:decreased expression:liver
associated with Obesity, Morbid;
associated with obesity;protein:decreased expression:serum:

CTD
RGD

PMID:20415685 PMID:22152320 PMID:22269154 PMID:26042596 PMID:27860427 More...

RGD:5685373, RGD:14401719, RGD:11076260, RGD:14401717, RGD:5686841, RGD:5686810, RGD:5686660, RGD:5686355

NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564

G

adiponectin receptor 2

susceptibility
treatment
severity

DNA:missense mutation:cds: (human)
mRNA:increased expression:liver (human)
mRNA:increased expression:liver (rat)
mRNA, protein:decreased expression:serum, liver (mouse)

RGD

PMID:25345946 PMID:25536648 PMID:19422483 PMID:26770322 PMID:17006986 More...

RGD:24922200, RGD:25824941, RGD:25440492, RGD:25330097, RGD:1599139, RGD:24922201

NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355

G

adrenoceptor beta 3

DNA:missense mutation:cds:p.W64R (rs4994) (human)

RGD

NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552

G

adenosylhomocysteinase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568

G

AKT serine/threonine kinase 1

susceptibility
treatment

DNA:SNPs:intron, enhancer: (rs2494732, rs2494752)
associated with Experimental Diabetes Mellitus

RGD

PMID:37525829 PMID:30186875

RGD:407419881, RGD:14401598

NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

G

aldehyde dehydrogenase 1 family, member A1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:218,000,470...218,152,962
Ensembl chr 1:218,042,127...218,152,961

G

aldehyde dehydrogenase 1 family, member B1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:60,063,370...60,068,378
Ensembl chr 5:60,063,225...60,068,378

G

aldehyde dehydrogenase 1 family, member L2

OMIM:613282 | OMIM:613387

NCBI chr 7:20,254,246...20,305,793
Ensembl chr 7:20,254,233...20,305,776

G

aldehyde dehydrogenase 2 family member

treatment
susceptibility

CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds: (rs671) (human)

CTD
RGD

PMID:29718361 PMID:25392542 PMID:27214654 PMID:31026768

RGD:15042863, RGD:11536476, RGD:15036808

NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521

G

aldehyde dehydrogenase 4 family, member A1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345

G

arachidonate 15-lipoxygenase

RGD

NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874

G

apolipoprotein A1

treatment

RGD

NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035

G

apolipoprotein E

RGD

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

apolipoprotein H

CTD Direct Evidence: marker/mechanism

NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329

G

autophagy related 7

ClinVar Annotator: match by term: NAFLD1

PMID:25741868 PMID:35405176

NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593

G

ATP synthase F1 subunit alpha

RGD

NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794

G

ATP synthase F1 subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273

G

alpha-2-glycoprotein 1, zinc-binding

treatment

RGD

NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091

G

beta-1,3-glucuronyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:25,087,123...25,114,692
Ensembl chr 8:25,087,547...25,113,395

G

complement C1q C chain

CTD Direct Evidence: marker/mechanism

NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017

G

catalase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

C-C motif chemokine ligand 2

severity

protein:increased expression:plasma

RGD

PMID:25813056 PMID:24927058

RGD:14995922, RGD:14995928

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 5

disease_progression
treatment

RGD

PMID:27639593 PMID:27639593

RGD:14995335, RGD:14995335

NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377

G

C-C motif chemokine receptor 2

susceptibility

DNA:polymorphism: :190A>G(human)

RGD

NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100

G

CD14 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261

G

CD163 molecule

exacerbates

protein:increased expression:blood serum (human)

RGD

NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878

G

CD36 molecule

mRNA:increased expression:liver

RGD

PMID:21216282 PMID:24280415

RGD:6893543, RGD:11041117

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

cordon-bleu WH2 repeat protein-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:49,753,260...49,915,168
Ensembl chr 3:49,753,262...49,915,194

G

collagen type I alpha 1 chain

treatment

RGD

PMID:23703580 PMID:17241878

RGD:8552713, RGD:2308807

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

carnitine palmitoyltransferase 1A

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:29289645 PMID:31211621

NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055

G

colony stimulating factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199

G

C-X-C motif chemokine ligand 10

treatment

RGD

NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975

G

cytochrome P450, family 17, subfamily a, polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573

G

cytochrome P450, family 1, subfamily a, polypeptide 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312

G

cytochrome P450, family 27, subfamily b, polypeptide 1

protein:decreased expression:liver (mouse)

RGD

NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241

G

cytochrome P450, family 2, subfamily e, polypeptide 1

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:26428356 PMID:26703967 PMID:28458161 PMID:25317811

RGD:11573192, RGD:14700881, RGD:14700871

NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023

G

diacylglycerol O-acyltransferase 2

treatment

RGD

PMID:24166662 PMID:26394137 PMID:17618857

RGD:10400900, RGD:329955565, RGD:10401056

NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428

G

enoyl-CoA hydratase 1

treatment

RGD

NCBI chr 1:84,114,494...84,120,788
Ensembl chr 1:84,112,751...84,120,795

G

eukaryotic translation initiation factor 2 alpha kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:10,710,771...10,744,597
Ensembl chr12:10,705,874...10,744,573

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

RGD

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

coagulation factor II, thrombin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486

G

Fas cell surface death receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

fatty acid synthase

treatment

RGD

NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261

G

fibroblast growth factor 21

severity

CTD Direct Evidence: therapeutic

CTD
RGD

PMID:26797127 PMID:29289645 PMID:32195457

NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454

G

Fibroblast growth factor receptor 1

severity

RGD

NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350

G

folate receptor beta

CTD Direct Evidence: marker/mechanism

NCBI chr 1:156,200,044...156,218,380
Ensembl chr 1:156,200,060...156,205,724

G

forkhead box O1

treatment

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790

G

FTO, alpha-ketoglutarate dependent dioxygenase

CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:liver

CTD
RGD

PMID:35654975 PMID:23329013

NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083

G

glucose-6-phosphatase catalytic subunit 1

treatment

associated with type 2 diabetes mellitus

RGD

PMID:30100243 PMID:27840945

RGD:14695535, RGD:14695545

NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804

G

glucose-6-phosphate dehydrogenase

treatment

RGD

NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801

G

glycine N-methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434

G

glycerol-3-phosphate acyltransferase, mitochondrial

treatment

RGD

NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639

G

glutamic--pyruvic transaminase

severity

CTD Direct Evidence: marker/mechanism
protein:increased activity:plasma

CTD
RGD

PMID:35654975 PMID:24768200 PMID:22922605

RGD:14975160, RGD:14975251

NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494

G

glutamic--pyruvic transaminase 2

protein:increased activity:plasma

RGD

NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610

G

glutathione peroxidase 1

treatment

RGD

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

glutathione-disulfide reductase

treatment

RGD

NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661

G

glutathione S-transferase alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:23,703,476...23,720,121
Ensembl chr 9:23,703,477...23,720,121

G

glutathione S-transferase mu 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase pi 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

glutathione S-transferase theta 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha

protein:decreased expression:liver

RGD

NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869

G

hepcidin antimicrobial peptide

associated with iron overload;protein:increased expression:serum (human)
mRNA:increased expression:liver (human)

RGD

PMID:29871592 PMID:28051796

RGD:15042878, RGD:15042880

NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891

G

homeostatic iron regulator

DNA:missense mutation:cds:p.C282Y (human)

RGD

NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502

G

3-hydroxy-3-methylglutaryl-CoA reductase

disease_progression

mRNA:decreased expression:liver
mRNA:decreased expression:liver (rat)

RGD

PMID:19913842 PMID:23117815

RGD:5508690, RGD:15045604

NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703

G

haptoglobin

protein:increased expression:serum
protein:decreased expression:serum

RGD

PMID:21806828 PMID:21806828

RGD:9491781, RGD:9491781

NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523

G

5-hydroxytryptamine receptor 2A

treatment

RGD

NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928

G

insulin degrading enzyme

RGD

NCBI chr 1:235,002,984...235,102,448
Ensembl chr 1:234,995,351...235,102,440

G

IFI30, lysosomal thiol reductase

CTD Direct Evidence: marker/mechanism

NCBI chr16:18,675,590...18,679,655
Ensembl chr16:18,675,613...18,681,175

G

insulin-like growth factor 1

susceptibility

associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat)

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

insulin-like growth factor 1 receptor

susceptibility

associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat)

RGD

NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777

G

insulin-like growth factor binding protein 7

treatment
disease_progression

mRNA:increased expression:liver (human)
mRNA:increased expression:liver (rat)

RGD

PMID:31397492 PMID:35312185 PMID:36034446 PMID:31805951

RGD:401960873, RGD:401960879, RGD:401960878, RGD:401960876

NCBI chr14:30,737,414...30,797,317
Ensembl chr14:30,737,164...30,797,314

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

CTD Direct Evidence: marker/mechanism

NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499

G

interleukin 10

severity

associated with morbid obesity

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 13

protein:increased expression:serum

RGD

NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737

G

interleukin 18

treatment
severity

protein:increased expression:plasma

RGD

PMID:24006666 PMID:28660148 PMID:20422882

RGD:8655964, RGD:14696674, RGD:14696664

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 beta

no_association

DNA:SNPs:CDS:rs1143634 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:CDS:rs16944 (human)

CTD
RGD

PMID:32613381 PMID:27730688 PMID:27730688

RGD:14975293, RGD:14975293

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

severity

associated with morbid obesity, protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:35654975 PMID:22027586

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066

G

interleukin 4

CTD Direct Evidence: marker/mechanism

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

G

interleukin 6

mRNA,protein:increased expression:liver,plasma
DNA:SNPs:promoter:rs10499563, rs1800795 (human)

RGD

PMID:18510618 PMID:27730688

RGD:7829808, RGD:14975293

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

insulin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775

G

insulin receptor

susceptibility
treatment

DNA:deletion:cds:codon 306 in exon 4 (mouse)
DNA:deletion:cds: (codon 306, exon 4) (mouse)

RGD

PMID:28468951 PMID:28468951 PMID:29325294

RGD:14700929, RGD:14700929, RGD:14700932

NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883

G

insulin receptor substrate 1

RGD

NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122

G

insulin receptor substrate 2

RGD

NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482

G

Janus kinase 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:28100771 PMID:18782535

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

klotho beta

CTD Direct Evidence: marker/mechanism

NCBI chr14:42,899,050...42,950,788
Ensembl chr14:42,899,510...42,950,799

G

keratin 18

disease_progression

protein:increased expression:serum (human)
associated with Metabolic Syndrome; protein:increased expression:liver, serum (rat)
protein:increased degradation:serum (rat)

RGD

PMID:30839434 PMID:29989845 PMID:30149902 PMID:30089409

RGD:18337481, RGD:26884460, RGD:18337497, RGD:18337482

NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166

G

laminin subunit alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:107,692,770...107,816,847
Ensembl chr 9:107,692,770...107,817,478

G

low density lipoprotein receptor

CTD Direct Evidence: marker/mechanism

PMID:20938947 PMID:23127599 PMID:23285030

NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580

G

leptin

associated with Type 2 Diabetes Mellitus;protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
OMIM:613282 | OMIM:613387
associated with type 2 diabetes mellitus;protein:increased expression:serum (human)
associated with Hepatitis C, Chronic;proteinLincreased expression:serum (human)

CTD
MouseDO
RGD

PMID:24211274 PMID:36105184 PMID:18713300 PMID:30052309 PMID:20476641

RGD:2311137, RGD:25330349, RGD:25330346

NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262

G

leptin receptor

susceptibility

DNA:intron:c.2673+1118C>T (rs6700896) (human)
DNA:SNP:cds:p.Q223R(human)
OMIM:613282 | OMIM:613387

PMID:22215535 PMID:27257426

RGD:14696694, RGD:21079462

NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908

G

LIF, interleukin 6 family cytokine

CTD Direct Evidence: marker/mechanism

NCBI chr14:79,131,049...79,140,486
Ensembl chr14:79,134,574...79,140,482

G

lipoprotein lipase

treatment

RGD

PMID:30214514 PMID:27978932

RGD:13793398, RGD:13794377

NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249

G

mitogen-activated protein kinase 8

treatment

associated with Diabetes Mellitus, Type 2;
protein:increased phosphorylation:adipose tissue, liver (rat)

RGD

PMID:24404139 PMID:27909723

RGD:13506784, RGD:150340686

NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981

G

MET proto-oncogene, receptor tyrosine kinase

disease_progression

RGD

NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876

G

mitofusin 2

treatment

RGD

NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342

G

microRNA 155

miRNA:decreased expression:blood, liver

RGD

PMID:27856635 PMID:27832630

RGD:21079446, RGD:25671479

NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718

G

microRNA 200b

severity

induced by nutritional deficiency.

RGD

PMID:22561871 PMID:20548288

RGD:14928332, RGD:14974031

NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366

G

microRNA 20a

associated with type 2 diabetes mellitus

RGD

NCBI chr15:92,181,084...92,181,168
Ensembl chr15:92,181,084...92,181,168

G

microRNA 22

severity
treatment

RGD

PMID:32195457 PMID:32195457

RGD:25330354, RGD:25330354

NCBI chr10:60,307,039...60,307,133
Ensembl chr10:60,307,039...60,307,133

G

microRNA 34a

miRNA:increased expression:plasma

RGD

NCBI chr 5:160,533,002...160,533,103
Ensembl chr 5:160,533,002...160,533,103

G

MLX interacting protein-like

treatment

RGD

NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112

G

malonyl-CoA decarboxylase

treatment

RGD

NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793

G

matrix metallopeptidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

G

myocardin related transcription factor A

CTD Direct Evidence: therapeutic

NCBI chr 7:112,544,305...112,714,418
Ensembl chr 7:112,544,312...112,714,418

G

methylenetetrahydrofolate reductase

severity
susceptibility

DNA:SNP: :1298A > C (human)
DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)

RGD

PMID:24488901 PMID:17563923

RGD:14696706, RGD:14696748

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

microsomal triglyceride transfer protein

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:35654975 PMID:15094225

NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239

G

nicotinamide phosphoribosyltransferase

treatment

RGD

NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100

G

NFE2 like bZIP transcription factor 2

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:25294219 PMID:23592516

NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737

G

NLR family, pyrin domain containing 3

OMIM:613282 | OMIM:613387

NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811

G

nitric oxide synthase 2

mRNA, protein:increased expression:liver (mouse)

RGD

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

NAD(P)H quinone dehydrogenase 1

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:29289645 PMID:28932253

NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557

G

nuclear receptor subfamily 1, group H, member 4

treatment
disease_progression
susceptibility

CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver (rat)
mRNA:decreased expression:liver (rat)
DNA:deletion:cds:exon 9 (mouse)

CTD
RGD

PMID:29142166 PMID:32062620 PMID:29743187 PMID:30257410 PMID:23117815 More...

RGD:14696797, RGD:15090799, RGD:15045604, RGD:14701033

NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047

G

nuclear receptor subfamily 5, group A, member 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:48,313,634...48,433,494
Ensembl chr13:48,316,301...48,433,326

G

pyruvate dehydrogenase kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 4:33,591,796...33,601,798
Ensembl chr 4:33,589,799...33,601,850

G

phosphatidylethanolamine N-methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013

G

progesterone receptor membrane component 1

OMIM:613282 | OMIM:613387

NCBI chr X:115,832,865...115,841,060
Ensembl chr X:115,832,884...115,888,682

G

phytanoyl-CoA 2-hydroxylase

treatment

RGD

NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409

G

pyruvate kinase L/R

treatment

RGD

NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870

G

phospholipase A2 group VII

protein:increased expression:serum

RGD

NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476

G

patatin-like phospholipase domain containing 3

susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: NAFLD1 | ClinVar Annotator: match by term: Susceptibility to Nonalcoholic Fatty Liver Disease
OMIM:613282 | OMIM:613387
DNA:SNPs: :rs738407, rs738409, and rs2896019 (human)
associated with obesity;DNA:SNP: :rs738409 (p.I148M) (human)

CTD
ClinVar
MouseDO
RGD

PMID:18820647 PMID:21381068 PMID:24033266 PMID:24531328 PMID:24917523 More...

RGD:14981596, RGD:14981593, RGD:13463463

NCBI chr 7:115,293,538...115,314,077
Ensembl chr 7:115,293,538...115,314,077

G

paraoxonase 2

treatment

RGD

NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248

G

peroxisome proliferator activated receptor alpha

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:23603006 PMID:31211621

NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346

G

peroxisome proliferator-activated receptor delta

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:16574099 PMID:29289645

NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968

G

peroxisome proliferator-activated receptor gamma

CTD Direct Evidence: marker/mechanism

NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468

G

PPARG coactivator 1 alpha

treatment
susceptibility

associated with Obesity; DNA:missense mutation:cds:p.G482S rs8192678 (human)

RGD

PMID:21373642 PMID:26394137 PMID:23269818

RGD:6484527, RGD:329955565, RGD:7241847

NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656

G

PPARG coactivator 1 beta

treatment

RGD

NCBI chr18:54,758,891...54,861,103
Ensembl chr18:54,758,902...54,861,194

G

pancreatic progenitor cell differentiation and proliferation factor

OMIM:613282 | OMIM:613387

NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036

G

peroxiredoxin 3

CTD Direct Evidence: therapeutic

NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111

G

perforin 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701

G

protein kinase cAMP-activated catalytic subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430

G

protein kinase C, alpha

CTD Direct Evidence: marker/mechanism

NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012

G

protein kinase C, delta

CTD Direct Evidence: marker/mechanism

NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352

G

protein kinase C, epsilon

CTD Direct Evidence: marker/mechanism

NCBI chr 6:7,965,048...8,451,966
Ensembl chr 6:7,965,048...8,451,719

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

prostaglandin-endoperoxide synthase 2

treatment

RGD

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

recombination activating 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066

G

retinoic acid receptor responder 2

disease_progression

mRNA:decreased expression:liver
mRNA, protein:decreased expression:liver,serum

RGD

PMID:23507574 PMID:23507574 PMID:23507574

RGD:15036822, RGD:15036822, RGD:15036822

NCBI chr 4:77,522,549...77,525,733
Ensembl chr 4:77,522,535...77,525,556

G

radixin

CTD Direct Evidence: marker/mechanism

NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678

G

resistin

protein:increased expression:serum

RGD

NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620

G

SAMM50 sorting and assembly machinery component

DNA:SNPs: :

RGD

NCBI chr 7:115,317,472...115,341,682
Ensembl chr 7:115,317,404...115,341,682

G

scavenger receptor class B, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:31,296,143...31,362,649
Ensembl chr12:31,296,156...31,362,647

G

stearoyl-CoA desaturase

treatment

RGD

NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562

G

serpin family A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339

G

serpin family B member 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:23,537,312...23,551,823
Ensembl chr13:23,541,400...23,550,408

G

serpin family E member 1

protein:increased expression:blood:

RGD

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

SID1 transmembrane family, member 2

OMIM:613282 | OMIM:613387

NCBI chr 8:46,232,379...46,248,913
Ensembl chr 8:46,232,383...46,248,700

G

sirtuin 1

treatment
severity

CTD Direct Evidence: therapeutic
associated with Obesity, Morbid;mRNA:decreased expression:visceral abdominal adipose tissue
protein:decreased expression:liver

CTD
RGD

PMID:26026874 PMID:17498258 PMID:20033348 PMID:22902550

RGD:9585663, RGD:9586021, RGD:9585746

NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260

G

sirtuin 2

treatment

associated with Obesity

RGD

NCBI chr 1:84,053,883...84,076,975
Ensembl chr 1:84,052,903...84,076,975

G

sirtuin 3

treatment

associated with Obesity

RGD

NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808

G

sirtuin 4

RGD

NCBI chr12:41,125,533...41,139,440
Ensembl chr12:41,131,262...41,139,439

G

sirtuin 6

treatment

RGD

NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914

G

superoxide dismutase 2

treatment

RGD

PMID:15094225 PMID:24597775

RGD:1581245, RGD:11352823

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

sterol regulatory element binding transcription factor 1

disease_progression
treatment

CTD Direct Evidence: marker/mechanism
protein:increased expression:liver (mouse)

CTD
RGD

PMID:23603006 PMID:24633463 PMID:29173234 PMID:26394137

RGD:401827867, RGD:329955565

NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650

G

signal transducer and activator of transcription 3

RGD

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

stanniocalcin 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:16,251,046...16,260,815
Ensembl chr10:16,250,853...16,262,973

G

trefoil factor 3

treatment

mRNA,protein:decreased expression:liver:

RGD

PMID:31211621 PMID:31211621

RGD:14747028, RGD:14747028

NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054

G

transferrin receptor

protein:increased expression:liver

RGD

NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257

G

thyroglobulin

sexual_dimorphism

RGD

NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210

G

transforming growth factor, beta 1

CTD Direct Evidence: marker/mechanism

PMID:21664615 PMID:32613381

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

toll-like receptor 4

treatment
severity

mRNA:increased expression:liver:

RGD

PMID:23301938 PMID:25413054 PMID:22253482

RGD:7777122, RGD:14700658, RGD:14700656

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

G

toll-like receptor 9

mRNA:increased expression:liver (human, mouse)

RGD

NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796

G

transmembrane 6 superfamily member 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:19,344,218...19,351,431
Ensembl chr16:19,344,222...19,351,431

G

tumor necrosis factor

treatment
severity

CTD Direct Evidence: marker/mechanism
protein:increased expression:serum, liver (rat)
associated with morbid obesity

CTD
RGD

PMID:32613381 PMID:25219124 PMID:19034968 PMID:25894568

RGD:10450574, RGD:14995482, RGD:14975151

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF alpha induced protein 3

severity

RGD

NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282

G

TNF receptor superfamily member 1B

CTD Direct Evidence: marker/mechanism

NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206

G

tribbles pseudokinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:91,206,579...91,213,126
Ensembl chr 7:91,206,579...91,214,731

G

tribbles pseudokinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:140,809,634...140,815,230
Ensembl chr 3:140,809,043...140,814,497

G

uncoupling protein 2

treatment

mRNA:increased expression:liver
mRNA, protein:increased expression:liver

RGD

PMID:21359922 PMID:18308829 PMID:18543254

RGD:7175312, RGD:7204435, RGD:7204434

NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611

G

vitamin D receptor

treatment

mRNA,protein:increased expression:hepatocyte:

RGD

PMID:27245430 PMID:27245430 PMID:27245430

RGD:14401753, RGD:14401753, RGD:14401753

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

G

very low density lipoprotein receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920

G

X-box binding protein 1

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:24097666 PMID:26394137

NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693

metachromatic leukodystrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenomedullin 2

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:120,393,179...120,394,965
Ensembl chr 7:120,393,179...120,396,331

G

apoptosis inducing factor, mitochondria associated 1

ClinVar Annotator: match by term: Metachromatic leukodystrophy variant

PMID:25741868 PMID:28842795

NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256

G

ALG12, alpha-1,6-mannosyltransferase

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:119,895,112...119,909,488
Ensembl chr 7:119,895,120...119,909,458

G

ALMS1, centrosome and basal body associated protein

ClinVar Annotator: match by term: Metachromatic leukodystrophy variant

PMID:17594715 PMID:24462884 PMID:25296579 PMID:25741868 PMID:26066530 More...

NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005

G

arylsulfatase A

ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe
ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe
ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy variant | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe
ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe
OMIM:249900 | OMIM:250100
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:1284530 PMID:1353340 PMID:1357970 PMID:1670590 PMID:1671769 More...

RGD:1358435, RGD:1358434

NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783

G

arylsulfatase B

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:1550123 PMID:8116615 PMID:8651289 PMID:10923267 PMID:11939792 More...

NCBI chr 2:25,002,210...25,162,675
Ensembl chr 2:25,002,346...25,162,671

G

bromodomain containing 1

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:119,774,187...119,822,032
Ensembl chr 7:119,774,188...119,822,031

G

cadherin-related 23

ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More...

NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419

G

choline kinase beta

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15026521 PMID:15211666 PMID:25344692 More...

NCBI chr 7:120,500,960...120,504,359
Ensembl chr 7:120,500,984...120,504,461

G

ciliary microtubule associated protein 1B

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:120,444,232...120,447,294
Ensembl chr 7:120,444,232...120,446,749

G

chloride voltage-gated channel 1

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:28492532 PMID:34529042

NCBI chr 4:71,171,949...71,201,483
Ensembl chr 4:71,172,547...71,199,984

G

carnitine palmitoyltransferase 1B

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:120,491,354...120,500,833
Ensembl chr 7:120,491,354...120,500,404

G

cysteine-rich with EGF-like domains 2

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:119,909,626...119,916,556
Ensembl chr 7:119,909,633...119,916,543

G

DENN domain containing 6B

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:120,261,679...120,273,667
Ensembl chr 7:120,261,679...120,273,494

G

eukaryotic translation initiation factor 2B subunit epsilon

ClinVar Annotator: match by term: Metachromatic leukodystrophy variant

PMID:11704758 PMID:15136673 PMID:17646634 PMID:21307862 PMID:25089094 More...

NCBI chr11:80,394,433...80,404,468
Ensembl chr11:80,394,433...80,404,419

G

ERCC excision repair 2, TFIIH core complex helicase subunit

ClinVar Annotator: match by term: Metachromatic leukodystrophy variant

PMID:9238033 PMID:11335038 PMID:11709541 PMID:19085937 PMID:19934020 More...

NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

G

glucose-6-phosphate dehydrogenase

ClinVar Annotator: match by term: Arylsulfatase A Deficiency

PMID:8364584 PMID:8471773 PMID:10502785 PMID:11793482 PMID:16329560 More...

NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801

G

host cell factor C1

ClinVar Annotator: match by term: Arylsulfatase A Deficiency

NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638

G

histone deacetylase 10

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:120,199,126...120,205,850
Ensembl chr 7:120,199,129...120,204,228

G

lysyl-tRNA synthetase 1

ClinVar Annotator: match by term: Metachromatic leukodystrophy variant

PMID:25741868 PMID:28492532 PMID:28496994 PMID:33260297 PMID:34172899

NCBI chr19:39,957,846...39,976,837
Ensembl chr19:39,957,846...39,977,632

G

kelch domain containing 7B

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:120,452,081...120,455,737
Ensembl chr 7:120,453,932...120,455,737

G

lipase maturation factor 2

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:120,418,343...120,422,825
Ensembl chr 7:120,418,345...120,422,823

G

mal, T-cell differentiation protein

RGD

NCBI chr 3:114,864,378...114,888,136
Ensembl chr 3:114,864,378...114,888,136

G

mitogen-activated protein kinase 11

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:120,218,471...120,225,488
Ensembl chr 7:120,218,478...120,225,395

G

mitogen-activated protein kinase 12

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:120,206,005...120,216,711
Ensembl chr 7:120,206,271...120,216,664

G

mitogen-activated protein kinase 8 interacting protein 2

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15026521 PMID:15211666 PMID:25344692 More...

NCBI chr 7:120,526,732...120,536,982
Ensembl chr 7:120,526,732...120,536,982

G

myo-inositol oxygenase

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:120,405,031...120,407,529
Ensembl chr 7:120,405,031...120,407,537

G

modulator of VRAC current 1

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049

G

Mov10 like RNA helicase 1

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:120,070,171...120,135,406
Ensembl chr 7:120,070,135...120,134,765

G

non-SMC condensin II complex, subunit H2

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938

G

pannexin 2

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:120,139,259...120,153,056
Ensembl chr 7:120,139,294...120,152,361

G

Pim-3 proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:119,953,377...119,956,587
Ensembl chr 7:119,953,175...119,956,587

G

plexin B2

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:120,232,276...120,258,385
Ensembl chr 7:120,232,331...120,258,330

G

RNA polymerase III subunit A

ClinVar Annotator: match by term: Metachromatic leukodystrophy variant

PMID:21855841 PMID:25339210 PMID:25741868 PMID:27612211 PMID:28459997 More...

NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172

G

protein phosphatase 6, regulatory subunit 2

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:120,285,378...120,356,995
Ensembl chr 7:120,285,406...120,356,395

G

prosaposin

OMIM:249900 | OMIM:250100
ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild

MouseDO
ClinVar

PMID:1371116 PMID:9536098 PMID:10196694 PMID:17576681 PMID:17616409 More...

NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498

G

RAB33A, member RAS oncogene family

ClinVar Annotator: match by term: Metachromatic leukodystrophy variant

PMID:25741868 PMID:28842795

NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378

G

SET binding factor 1

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902

G

selenoprotein O

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:120,167,913...120,178,806
Ensembl chr 7:120,167,913...120,178,805

G

synaptonemal complex central element protein 3

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:120,456,800...120,482,882
Ensembl chr 7:120,456,800...120,482,973

G

TraB domain containing

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:120,155,042...120,166,015
Ensembl chr 7:120,155,042...120,166,015

G

tubulin tyrosine ligase like 8

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:120,000,638...120,046,556
Ensembl chr 7:120,001,794...120,045,075

G

tubulin gamma complex component 6

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011

G

thymidine phosphorylase

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874

G

zinc finger, BED-type containing 4

ClinVar Annotator: match by term: Metachromatic leukodystrophy

PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More...

NCBI chr 7:119,846,374...119,883,495
Ensembl chr 7:119,843,169...119,883,899

Metachromatic Leukodystrophy due to Saposin B Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cadherin-related 23

ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency

PMID:25741868 PMID:28492532

NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419

G

prosaposin

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency

CTD
OMIM
ClinVar

PMID:1371116 PMID:2019586 PMID:8554069 PMID:9536098 PMID:10196694 More...

NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498

microvillus inclusion disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell division cycle 42

OMIM:251850

NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111

G

myosin Vb

ClinVar Annotator: match by term: Congenital familial protracted diarrhea with enterocyte brush-border abnormalities | ClinVar Annotator: match by term: Congenital microvillous atrophy | ClinVar Annotator: match by term: Diarrhea with Microvillus Atrophy | ClinVar Annotator: match by term: MYO5B-related condition
OMIM:251850
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18724368 PMID:19006234 More...

NCBI chr18:68,038,759...68,341,568
Ensembl chr18:68,038,759...68,338,745

mucolipidosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

ClinVar Annotator: match by term: Mucolipidosis

PMID:9536098 PMID:15633164 PMID:16116615 PMID:16199547 PMID:16200072 More...

NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933

G

N-acetylglucosamine-1-phosphate transferase subunit gamma

ClinVar Annotator: match by term: Mucolipidosis

PMID:24033266 PMID:25741868

NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096

G

mucolipin TRP cation channel 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mucolipidosis

PMID:9450896 PMID:10441585 PMID:10973263 PMID:11013137 PMID:11030752 More...

NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252

mucolipidosis II alpha/beta

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

ClinVar Annotator: match by term: Mucolipidosis type II
OMIM:252500

OMIM
ClinVar
MouseDO

PMID:9536098 PMID:15633164 PMID:16116615 PMID:16199547 PMID:16200072 More...

NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933

Mucolipidosis III Alpha Beta, Atypical

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

ClinVar Annotator: match by term: Mucolipidosis III alpha/beta, atypical

PMID:9536098 PMID:15633164 PMID:17576681 PMID:28492532

NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933

mucolipidosis III alpha/beta

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

ClinVar Annotator: match by term: Mucolipidosis, Type III Alpha/Beta | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy

PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16199547 More...

NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933

mucolipidosis III gamma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N-acetylglucosamine-1-phosphate transferase subunit gamma

ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM | ClinVar Annotator: match by term: Mucolipidosis type III gamma
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:10712439 PMID:15060128 PMID:15532026 PMID:16199547 More...

NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096

G

unk like zinc finger

ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM

NCBI chr10:14,206,125...14,252,226
Ensembl chr10:14,206,189...14,252,225

mucolipidosis type IV

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif, 10

ClinVar Annotator: match by term: Mucolipidosis type IV

NCBI chr 7:14,331,659...14,361,620
Ensembl chr 7:14,331,745...14,361,620

G

adhesion G protein-coupled receptor E1

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr 9:2,242,476...2,398,000
Ensembl chr 9:2,242,474...2,398,000

G

alkB homolog 7

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr 9:1,838,886...1,841,044
Ensembl chr 9:1,838,811...1,841,044

G

angiopoietin-like 4

ClinVar Annotator: match by term: Mucolipidosis type IV

NCBI chr 7:14,550,288...14,557,797
Ensembl chr 7:14,550,311...14,556,519

G

Rho/Rac guanine nucleotide exchange factor 18

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:1,395,035...1,503,082
Ensembl chr12:1,395,088...1,503,081

G

complement C3

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

calmodulin regulated spectrin-associated protein family, member 3

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:1,643,062...1,666,685
Ensembl chr12:1,643,251...1,666,685

G

C-C motif chemokine ligand 25

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:2,707,398...2,716,571
Ensembl chr12:2,707,398...2,716,554

G

CD209d molecule

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171

G

CD320 molecule

ClinVar Annotator: match by term: Mucolipidosis type IV

NCBI chr 7:14,626,171...14,631,976
Ensembl chr 7:14,609,146...14,631,976

G

Cd70 molecule

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr 9:2,006,563...2,009,715
Ensembl chr 9:2,006,563...2,009,715

G

ceramide synthase 4

ClinVar Annotator: match by term: Mucolipidosis type IV

NCBI chr12:2,851,784...2,890,244
Ensembl chr12:2,851,784...2,886,828

G

C-type lectin domain family 4, member G

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:1,780,370...1,785,027
Ensembl chr12:1,780,371...1,784,985

G

C-type lectin domain family 4 member M

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:1,915,902...1,924,529
Ensembl chr12:1,915,919...1,924,539

G

caseinolytic mitochondrial matrix peptidase proteolytic subunit

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr 9:1,831,680...1,837,700
Ensembl chr 9:1,830,311...1,837,693

G

crumbs cell polarity complex component 3

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr 9:1,898,531...1,903,860
Ensembl chr 9:1,896,623...1,903,859

G

cortexin 1

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:2,610,465...2,612,076

G

DENN domain containing 1C

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr 9:1,904,040...1,916,329
Ensembl chr 9:1,904,045...1,916,187

G

ELAV like RNA binding protein 1

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:2,640,936...2,684,787
Ensembl chr12:2,645,061...2,684,784

G

ecotropic viral integration site 5-like

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:2,519,648...2,558,766
Ensembl chr12:2,519,671...2,559,950

G

Fc epsilon receptor II

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:1,742,809...1,754,476
Ensembl chr12:1,742,815...1,754,476

G

G protein-coupled receptor 108

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr 9:2,120,740...2,131,771
Ensembl chr 9:2,120,744...2,132,572

G

general transcription factor IIF subunit 1

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr 9:1,844,027...1,853,455
Ensembl chr 9:1,843,901...1,853,423

G

heterogeneous nuclear ribonucleoprotein M

ClinVar Annotator: match by term: Mucolipidosis type IV

NCBI chr 7:14,438,703...14,476,781
Ensembl chr 7:14,438,688...14,476,762

G

insulin receptor

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883

G

KN motif and ankyrin repeat domains 3

ClinVar Annotator: match by term: Mucolipidosis type IV

NCBI chr 7:14,594,358...14,607,675
Ensembl chr 7:14,594,422...14,607,675

G

KH-type splicing regulatory protein

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr 9:1,862,555...1,872,403
Ensembl chr 9:1,862,899...1,872,451

G

leucine rich repeat containing 8 VRAC subunit E

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:2,578,240...2,589,407
Ensembl chr12:2,578,315...2,589,412

G

mitogen activated protein kinase kinase 7

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:2,591,312...2,600,534
Ensembl chr12:2,591,219...2,604,222

G

membrane associated ring-CH-type finger 2

ClinVar Annotator: match by term: Mucolipidosis type IV

NCBI chr 7:14,480,605...14,507,821
Ensembl chr 7:14,481,761...14,507,794

G

methyl-CpG binding domain protein 3-like 2

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr 8:15,607,477...15,614,046
Ensembl chr 8:15,611,214...15,612,563

G

mast cell-expressed membrane protein 1

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:1,721,781...1,727,350
Ensembl chr12:1,718,730...1,725,986

G

mucolipin TRP cation channel 1

ClinVar Annotator: match by term: Mucolipidosis type IV
OMIM:252650

OMIM
ClinVar
MouseDO

PMID:9450896 PMID:9536098 PMID:10441585 PMID:10973263 PMID:11013137 More...

NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252

G

myosin IF

ClinVar Annotator: match by term: Mucolipidosis type IV

NCBI chr 7:14,363,340...14,413,911
Ensembl chr 7:14,363,350...14,413,911

G

NADH:ubiquinone oxidoreductase subunit A7

ClinVar Annotator: match by term: Mucolipidosis type IV

NCBI chr 7:14,609,283...14,622,064
Ensembl chr 7:14,609,146...14,631,976

G

Purkinje cell protein 2

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:1,681,659...1,683,899
Ensembl chr12:1,681,659...1,683,899

G

PET100 cytochrome c oxidase chaperone

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:1,679,805...1,682,540
Ensembl chr12:1,679,859...1,682,540

G

peroxisomal biogenesis factor 11 gamma

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:1,502,606...1,532,347
Ensembl chr12:1,503,646...1,512,585

G

patatin-like phospholipase domain containing 6

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734

G

PML-RARA regulated adaptor molecule 1

ClinVar Annotator: match by term: Mucolipidosis type IV

NCBI chr 7:14,428,548...14,438,081
Ensembl chr 7:14,420,165...14,438,166

G

persephin

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr 9:1,840,906...1,841,748
Ensembl chr 9:1,840,896...1,854,327

G

RAB11B, member RAS oncogene family

ClinVar Annotator: match by term: Mucolipidosis type IV

NCBI chr 7:14,521,448...14,534,589
Ensembl chr 7:14,521,368...14,534,593

G

resistin

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620

G

ribosomal protein S28

ClinVar Annotator: match by term: Mucolipidosis type IV

NCBI chr 7:14,607,801...14,609,170
Ensembl chr 7:14,607,801...14,609,170
Ensembl chr16:14,607,801...14,609,170

G

stabilizer of axonemal microtubules 5

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:1,520,983...1,538,127
Ensembl chr12:1,521,014...1,538,118

G

SH2 domain containing 3A

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr 9:2,148,803...2,158,150

G

solute carrier family 25 member 23

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr 9:1,882,636...1,898,369
Ensembl chr 9:1,882,621...1,898,561

G

solute carrier family 25, member 41

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr 9:1,873,692...1,881,405
Ensembl chr 9:1,873,692...1,881,424

G

small nuclear RNA activating complex, polypeptide 2

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:2,605,794...2,608,997
Ensembl chr12:2,605,810...2,608,999

G

syntaxin binding protein 2

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458

G

transforming growth factor beta receptor 3 like

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:2,600,874...2,604,211
Ensembl chr12:2,600,934...2,604,222

G

translocase of inner mitochondrial membrane 44

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:2,612,581...2,629,374
Ensembl chr12:2,612,581...2,629,351

G

TNF superfamily member 14

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr 9:2,068,295...2,073,128
Ensembl chr 9:2,069,104...2,073,216

G

TNF superfamily member 9

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr 9:1,944,017...1,946,351
Ensembl chr 9:1,944,017...1,946,345

G

trafficking protein particle complex subunit 5

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:1,737,666...1,741,312
Ensembl chr12:1,737,627...1,742,637

G

thyroid hormone receptor interactor 10

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr 9:2,133,085...2,147,795
Ensembl chr 9:2,133,671...2,147,799

G

tubulin, beta 4A class IVa

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291

G

vav guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr 9:2,161,985...2,209,951
Ensembl chr 9:2,157,900...2,208,937

G

XPA binding protein 2

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:1,667,672...1,679,702
Ensembl chr12:1,667,672...1,679,692

G

zinc finger protein 358

ClinVar Annotator: match by term: Mucolipidosis type IV

PMID:11030752 PMID:11317355 PMID:28492532

NCBI chr12:1,552,367...1,556,460
Ensembl chr12:1,552,366...1,556,460

G

zinc finger protein 414

ClinVar Annotator: match by term: Mucolipidosis type IV

NCBI chr 7:14,420,232...14,422,939
Ensembl chr 7:14,420,165...14,438,166

mucosulfatidosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

inositol 1,4,5-trisphosphate receptor, type 1

ClinVar Annotator: match by term: Multiple sulfatase deficiency

NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491

G

sulfatase modifying factor 1

OMIM:272200

NCBI chr 4:141,078,735...141,160,711
Ensembl chr 4:141,078,741...141,160,708

G

sulfatase modifying factor 2

ClinVar Annotator: match by term: Multiple sulfatase deficiency

NCBI chr12:26,853,561...26,871,835
Ensembl chr12:26,853,200...26,871,816

Neuraminidase Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 8

ClinVar Annotator: match by term: Sialidase deficiency

PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More...

NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510

G

neuraminidase 1

ClinVar Annotator: match by term: Neuraminidase 1 deficiency | ClinVar Annotator: match by term: Sialidase deficiency | ClinVar Annotator: match by term: Sialidosis type I
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9054950 PMID:9536098 PMID:10767332 PMID:10944856 PMID:11063730 More...

NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745

neuronal ceroid lipofuscinosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha- and gamma-adaptin binding protein

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 8:64,083,343...64,121,903
Ensembl chr 8:64,083,380...64,121,900

G

abhydrolase domain containing 16B

ClinVar Annotator: match by term: Ceroid storage disease
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More...

NCBI chr 3:168,594,677...168,596,574
Ensembl chr 3:168,594,609...168,619,762

G

abhydrolase domain containing 18

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 2:123,872,299...123,920,987
Ensembl chr 2:123,872,386...123,920,231

G

ADRM1 26S proteasome ubiquitin receptor

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr 3:167,265,435...167,270,197
Ensembl chr 3:167,265,296...167,270,195

G

adaptor related protein complex 2 subunit alpha 2

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,652,315...196,725,609
Ensembl chr 1:196,652,337...196,725,603

G

amyloid beta precursor protein binding family B member 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:159,896,889...159,920,505
Ensembl chr 1:159,896,880...159,920,627

G

apolipoprotein B receptor

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:9311735 PMID:28492532 PMID:28542676

NCBI chr 1:181,169,019...181,173,206
Ensembl chr 1:181,168,916...181,173,528

G

ADP-ribosylation factor GTPase activating protein 1

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr 3:168,084,560...168,099,948
Ensembl chr 3:168,084,614...168,099,933

G

ADP-ribosylation factor interacting protein 2

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:159,974,255...159,980,398
Ensembl chr 1:159,974,201...159,980,336

G

ADP-ribosylation factor related protein 1

ClinVar Annotator: match by term: Ceroid storage disease
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More...

NCBI chr 3:168,466,351...168,473,960
Ensembl chr 3:168,466,496...168,473,914

G

Rho guanine nucleotide exchange factor 10

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:15024724 PMID:28116333 PMID:28492532

NCBI chr16:74,647,147...74,738,784
Ensembl chr16:74,647,153...74,738,173

G

arylsulfatase G

Lysosomal storage disease, ARSG related

PMID:12951908 PMID:15058771 PMID:15365721 PMID:16916197 PMID:20429032 More...

NCBI chr10:94,412,261...94,551,224
Ensembl chr10:94,447,399...94,542,941

G

achaete-scute family bHLH transcription factor 2

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:198,148,999...198,151,406
Ensembl chr 1:198,148,999...198,151,406

G

ATPase cation transporting 13A2

CTD Direct Evidence: marker/mechanism

PMID:22022275 PMID:22847264

NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139

G

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:9311735 PMID:28492532 PMID:28542676

NCBI chr 1:181,026,606...181,044,859
Ensembl chr 1:181,026,608...181,044,838

G

ataxin 2-like

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:9311735 PMID:28492532 PMID:28542676

NCBI chr 1:181,078,293...181,090,079
Ensembl chr 1:181,078,288...181,089,686

G

basic helix-loop-helix family, member e23

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr 3:167,889,009...167,891,223
Ensembl chr 3:167,889,009...167,891,223

G

baculoviral IAP repeat-containing 7

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr 3:168,047,824...168,052,606
Ensembl chr 3:168,047,824...168,052,606

G

BR serine/threonine kinase 2

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:197,035,505...197,088,624
Ensembl chr 1:197,035,633...197,088,092

G

similar to human chromosome 11 open reading frame 42

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:159,722,255...159,725,863
Ensembl chr 1:159,718,679...159,725,904

G

similar to human chromosome 15 open reading frame 61

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 8:63,868,125...63,872,863
Ensembl chr 8:63,868,125...63,872,751

G

Cdk5 and Abl enzyme substrate 2

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr 3:167,347,527...167,362,274
Ensembl chr 3:167,347,461...167,362,279

G

calmodulin-like 4

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 8:63,323,426...63,335,234
Ensembl chr 8:63,323,351...63,335,234

G

caveolae associated protein 3

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:159,826,549...159,828,138
Ensembl chr 1:159,826,549...159,828,161

G

cholecystokinin B receptor

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:159,771,733...159,781,738
Ensembl chr 1:159,771,733...159,814,881

G

CD151 molecule (Raph blood group)

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,564,744...196,568,753
Ensembl chr 1:196,565,181...196,568,753

G

CD19 molecule

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:9311735 PMID:28492532 PMID:28542676

NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975

G

Cd81 molecule

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660

G

cadherin-related family member 5

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,373,110...196,381,609
Ensembl chr 1:196,373,112...196,381,543

G

cyclin-dependent kinase inhibitor 1C

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048

G

cell cycle exit and neuronal differentiation 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,525,153...196,528,152
Ensembl chr 1:196,523,920...196,528,302

G

chitinase domain containing 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,594,357...196,629,700
Ensembl chr 1:196,587,509...196,629,606

G

cholinergic receptor nicotinic alpha 4 subunit

ClinVar Annotator: match by term: Ceroid storage disease
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More...

NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957

G

chloride voltage-gated channel 3

RGD

NCBI chr16:29,127,152...29,200,133
Ensembl chr16:29,127,419...29,200,119

G

CLN3 lysosomal/endosomal transmembrane protein, battenin

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:7553855 PMID:9311735 PMID:9450775 PMID:9536098 PMID:9618513 More...

NCBI chr 1:181,156,071...181,169,458
Ensembl chr 1:181,156,073...181,167,434

G

CLN5, intracellular trafficking protein

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:8001159 PMID:9536098 PMID:9662406 PMID:10528251 PMID:10953198 More...

NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438

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CLN6, transmembrane ER protein

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
DNA:mutations: :
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:9536098 PMID:11727201 PMID:11791207 PMID:12673792 PMID:12815591 More...

RGD:1358512, RGD:11064442, RGD:1358512

NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360

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CLN8, transmembrane ER and ERGIC protein

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:2199011 PMID:9536098 PMID:10508524 PMID:10861296 PMID:11589000 More...

NCBI chr16:74,749,662...74,759,553
Ensembl chr16:74,749,662...74,759,774

G

cyclic nucleotide gated channel subunit alpha 4

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:159,752,357...159,756,369
Ensembl chr 1:159,752,357...159,756,375

G

collagen type XX alpha 1 chain

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr 3:168,102,475...168,134,759
Ensembl chr 3:168,084,560...168,135,309

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collagen type IX alpha 3 chain

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465

G

coronin 2B

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 8:62,906,861...63,017,295
Ensembl chr 8:62,906,867...63,017,302

G

calcium release activated channel regulator 2B

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,558,407...196,563,961
Ensembl chr 1:196,558,588...196,563,771

G

cathepsin D

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:9536098 PMID:10218883 PMID:16199547 PMID:16670177 PMID:16685649 More...

NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488

G

cathepsin F

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:16199547 PMID:23297359 PMID:25274848 PMID:25741868 PMID:28492532 More...

NCBI chr 1:202,152,777...202,158,525
Ensembl chr 1:202,152,728...202,158,525

G

DEAF1 transcription factor

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541

G

death inducer-obliterator 1

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218

G

DIS3-like exosome 3'-5' exoribonuclease

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 8:64,803,925...64,840,306
Ensembl chr 8:64,803,927...64,840,165

G

DnaJ heat shock protein family (Hsp40) member C5

ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:9536098 PMID:14534157 PMID:17576681 PMID:19822871 PMID:23360469 More...

NCBI chr 3:168,621,905...168,656,570
Ensembl chr 3:168,621,969...168,655,935

G

dynein heavy chain domain 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:159,990,785...160,077,990
Ensembl chr 1:159,990,438...160,074,858

G

dopamine receptor D4

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553

G

dual specificity phosphatase 8

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:197,167,392...197,184,285
Ensembl chr 1:197,169,422...197,182,921

G

endothelin receptor type B

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:8001159 PMID:10528251 PMID:20127975 PMID:20157158 PMID:22589734 More...

NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115

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eukaryotic translation elongation factor 1 alpha 2

ClinVar Annotator: match by term: Ceroid storage disease
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More...

NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071

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eukaryotic translation initiation factor 3, subunit C

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:9311735 PMID:28492532 PMID:28542676

NCBI chr 1:181,134,604...181,152,489
Ensembl chr 1:181,134,604...181,152,493

G

EPS8-like 2

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,446,260...196,471,544
Ensembl chr 1:196,446,287...196,471,541

G

F-box and leucine-rich repeat protein 3

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:8001159 PMID:10528251 PMID:20127975 PMID:20157158 PMID:22589734 More...

NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867

G

fem-1 homolog B

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 8:63,265,301...63,278,577
Ensembl chr 8:63,265,301...63,278,577

G

FHF complex subunit HOOK interacting protein 1B

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:159,718,679...159,748,449
Ensembl chr 1:159,726,004...159,748,408

G

fibronectin type III domain containing 11

ClinVar Annotator: match by term: Ceroid storage disease
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More...

NCBI chr 3:168,330,607...168,333,111
Ensembl chr 3:168,330,602...168,334,617

G

GATA binding protein 5

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751

G

glutamine amidotransferase class 1 domain containing 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,504,533...196,512,561
Ensembl chr 1:196,504,833...196,512,551

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GID complex subunit 8 homolog

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr 3:167,826,006...167,836,759
Ensembl chr 3:167,826,060...167,834,814

G

glucocorticoid modulatory element binding protein 2

ClinVar Annotator: match by term: Ceroid storage disease
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More...

NCBI chr 3:168,362,650...168,400,788
Ensembl chr 3:168,362,650...168,400,788

G

GSG1-like

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:9311735 PMID:28492532 PMID:28542676

NCBI chr 1:180,440,398...180,654,342
Ensembl chr 1:180,442,630...180,654,134

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general transcription factor IIIC subunit 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:9311735 PMID:28492532 PMID:28542676

NCBI chr 1:180,203,995...180,270,201
Ensembl chr 1:180,203,995...180,270,201

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H19 imprinted maternally expressed transcript

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

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helicase with zinc finger 2

ClinVar Annotator: match by term: Ceroid storage disease
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More...

NCBI chr 3:168,338,813...168,353,219
Ensembl chr 3:168,338,813...168,353,159

G

hemopexin

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:159,932,819...159,940,327
Ensembl chr 1:159,932,755...159,940,328

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

G

heat shock protein family A (Hsp70) member 5

protein:increased expression:brain

RGD

NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891

G

interferon induced transmembrane protein 10

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:197,507,501...197,524,180
Ensembl chr 1:197,507,503...197,525,151

G

insulin-like growth factor 2

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018

G

interleukin 21 receptor

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:9311735 PMID:28492532 PMID:28542676

NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522

G

interleukin 27

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:9311735 PMID:28492532 PMID:28542676

NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582

G

integrin-linked kinase

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:160,088,839...160,095,140
Ensembl chr 1:160,088,897...160,095,140

G

insulin 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536

G

insulin 2

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775

G

IQ motif containing H

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 8:63,889,816...64,083,248
Ensembl chr 8:63,892,370...64,083,223

G

interferon regulatory factor 7

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,367,380...196,370,943
Ensembl chr 1:196,367,361...196,370,832

G

integrin subunit alpha 11

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 8:63,145,998...63,254,714
Ensembl chr 8:63,146,001...63,254,407

G

katanin interacting protein

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:9311735 PMID:28492532 PMID:28542676

NCBI chr 1:180,270,194...180,436,766
Ensembl chr 1:180,269,929...180,436,766

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potassium voltage-gated channel subfamily Q member 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669

G

potassium voltage-gated channel subfamily Q member 2

ClinVar Annotator: match by term: Ceroid storage disease
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More...

NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071

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potassium channel tetramerization domain containing 7

ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:22748208 PMID:25741868 PMID:25976102 PMID:27742667 PMID:28492532 More...

NCBI chr12:26,520,969...26,532,327
Ensembl chr12:26,523,142...26,532,138

G

keratin associated protein 5-1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:197,278,886...197,279,893

G

laminin subunit alpha 5

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451

G

linker for activation of T cells

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:9311735 PMID:28492532 PMID:28542676

NCBI chr 1:180,936,536...180,941,561
Ensembl chr 1:180,936,534...180,941,578

G

lactase-like

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 8:64,618,356...64,654,851
Ensembl chr 8:64,618,350...64,639,357

G

Lck interacting transmembrane adaptor 1

ClinVar Annotator: match by term: Ceroid storage disease
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More...

NCBI chr 3:168,490,535...168,496,627
Ensembl chr 3:168,490,074...168,493,127

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lamin tail domain containing 2

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,315,112...196,320,880
Ensembl chr 1:196,315,115...196,319,156

G

U6 spliceosomal RNA

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 8:63,594,040...63,594,146
Ensembl chr 8:63,594,040...63,594,146

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172

G

lymphocyte-specific protein 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:197,614,677...197,648,414
Ensembl chr 1:197,614,687...197,648,416

G

mitogen activated protein kinase kinase 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147

G

mitogen activated protein kinase kinase 5

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 8:63,625,220...63,852,090
Ensembl chr 8:63,625,221...63,851,983

G

MEFV innate immunity regulator, pyrin

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:2703059 PMID:25741868 PMID:34276053

NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973

G

multiple EGF-like-domains 11

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 8:64,892,312...65,218,984
Ensembl chr 8:64,892,387...65,216,061

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major facilitator superfamily domain containing 8

ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Jansky-Bielschowsky disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:18850119 PMID:19201763 PMID:19277732 PMID:20826447 PMID:21990111 More...

NCBI chr 2:123,822,042...123,847,808
Ensembl chr 2:123,816,614...123,857,971

G

microRNA 1b

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr 3:167,487,117...167,487,201
Ensembl chr 3:167,487,117...167,487,201

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microRNA 210

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454

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microRNA 3582

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr18:1,885,063...1,885,180
Ensembl chr18:1,885,063...1,885,180

G

MOB kinase activator 2

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:197,092,991...197,149,978
Ensembl chr 1:197,092,994...197,149,933

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MRG domain binding protein

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr 3:167,697,129...167,700,592
Ensembl chr 3:167,697,185...167,700,592

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mitochondrial ribosomal protein L23

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:197,687,452...197,695,222
Ensembl chr 1:197,687,347...197,695,222

G

mucin 2, oligomeric mucus/gel-forming

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756

G

mucin 5AC, oligomeric mucus/gel-forming

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475

G

mucin 5B, oligomeric mucus/gel-forming

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250

G

mucin 6, oligomeric mucus/gel-forming

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842

G

MYC binding protein 2

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:8001159 PMID:10528251 PMID:20127975 PMID:20157158 PMID:22589734 More...

NCBI chr15:79,937,354...80,175,432
Ensembl chr15:79,937,354...80,175,498

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nuclear factor of activated T-cells 2 interacting protein

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:9311735 PMID:28492532 PMID:28542676

NCBI chr 1:180,954,834...180,971,847
Ensembl chr 1:180,955,043...180,971,747

G

Sodium/potassium transporting ATPase interacting 4

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr 3:168,053,294...168,073,944
Ensembl chr 3:168,053,066...168,073,925

G

neurotensin receptor 1

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr 3:167,606,215...167,656,371
Ensembl chr 3:167,606,215...167,656,377

G

nuclear protein 1, transcriptional regulator

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:9311735 PMID:28492532 PMID:28542676

NCBI chr 1:181,213,292...181,215,327
Ensembl chr 1:181,213,368...181,215,281

G

opioid growth factor receptor

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr 3:167,703,173...167,709,459
Ensembl chr 3:167,702,695...167,709,473

G

olfactory receptor family 52 subfamily B member 2

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:159,695,507...159,696,475
Ensembl chr 1:159,694,964...159,701,227

G

olfactory receptor family 52 subfamily E member 4

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:159,454,581...159,455,519
Ensembl chr 1:159,454,581...159,455,519

G

olfactory receptor family 52 subfamily E member 8

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:159,360,430...159,361,380
Ensembl chr 1:159,360,430...159,361,380

G

olfactory receptor family 52 subfamily L member 1B

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:159,543,892...159,544,842
Ensembl chr 1:159,543,892...159,544,887

G

olfactory receptor family 52 subfamily N member 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:159,128,222...159,129,187
Ensembl chr 1:159,128,222...159,129,187

G

olfactory receptor family 52 subfamily N member 2

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:159,204,524...159,205,480
Ensembl chr 1:159,203,518...159,207,587

G

olfactory receptor family 52 subfamily N member 4C

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:158,972,002...158,972,967
Ensembl chr 1:158,972,002...158,972,971

G

olfactory receptor family 52 subfamily W member 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:159,715,755...159,716,744
Ensembl chr 1:159,715,755...159,716,744

G

olfactory receptor family 52 subfamily X member 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:159,601,106...159,602,059
Ensembl chr 1:159,600,106...159,604,707

G

olfactory receptor family 56 subfamily A member 3B

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:159,476,168...159,477,115
Ensembl chr 1:159,472,054...159,479,841

G

olfactory receptor family 56 subfamily A member 5

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:159,500,672...159,501,610
Ensembl chr 1:159,500,672...159,501,610

G

olfactory receptor family 56 subfamily B member 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:158,910,597...158,911,556
Ensembl chr 1:158,904,179...158,911,730

G

olfactory receptor family 56 subfamily B member 6

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:159,619,288...159,620,253
Ensembl chr 1:159,616,811...159,622,534

G

oxysterol binding protein-like 2

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr 3:167,210,945...167,256,219
Ensembl chr 3:167,210,832...167,256,219

G

PHD and ring finger domains 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892

G

protein inhibitor of activated STAT, 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 8:63,338,150...63,451,670
Ensembl chr 8:63,338,150...63,438,905

G

p53-induced death domain protein 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699

G

patatin-like phospholipase domain containing 2

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805

G

RNA polymerase II, I and III subunit L

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,570,051...196,572,060

G

pancreatic progenitor cell differentiation and proliferation factor

ClinVar Annotator: match by term: Ceroid storage disease
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More...

NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036

G

palmitoyl-protein thioesterase 1

ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:2538469 PMID:7637805 PMID:9425237 PMID:9571187 PMID:9664077 More...

NCBI chr 5:135,121,164...135,142,048
Ensembl chr 5:135,121,163...135,142,048

G

palmitoyl-protein thioesterase 2

NCBI chr20:4,112,520...4,132,774
Ensembl chr20:4,122,463...4,132,774

G

pre-mRNA processing factor 6

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr 3:168,706,952...168,771,191
Ensembl chr 3:168,704,299...168,774,991

G

protein tyrosine kinase 6

ClinVar Annotator: match by term: Ceroid storage disease
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More...

NCBI chr 3:168,307,073...168,315,664
Ensembl chr 3:168,307,073...168,315,664

G

RAB11a, member RAS oncogene family

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 8:65,223,698...65,246,461
Ensembl chr 8:65,222,949...65,246,525

G

rabaptin, RAB GTPase binding effector protein 2

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:9311735 PMID:28492532 PMID:28542676

NCBI chr 1:181,010,305...181,026,651
Ensembl chr 1:181,010,305...181,026,648

G

Ras association domain family member 7

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,319,600...196,323,787
Ensembl chr 1:196,320,902...196,323,770

G

RBBP8 N-terminal like

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr 3:167,364,048...167,378,993
Ensembl chr 3:167,364,048...167,379,092

G

ribosomal protein L4

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 8:64,671,177...64,676,301
Ensembl chr 8:64,671,160...64,676,306

G

ribosomal protein lateral stalk subunit P2

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,546,086...196,548,636
Ensembl chr 1:196,546,352...196,548,645

G

ribosomal protein S21, pseudogene 1

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr 5:153,387,133...153,387,476
Ensembl chr 5:153,387,176...153,387,427

G

ribosomal RNA processing 8

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:160,081,092...160,088,709
Ensembl chr 1:160,084,295...160,089,331

G

regulator of telomere elongation helicase 1

ClinVar Annotator: match by term: Ceroid storage disease
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More...

NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348

G

SH3 domain binding kinase 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:9311735 PMID:28492532 PMID:28542676

NCBI chr 1:180,807,092...180,851,910
Ensembl chr 1:180,807,099...180,851,885

G

sciellin

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:8001159 PMID:10528251 PMID:20127975 PMID:20157158 PMID:22589734 More...

NCBI chr15:80,339,661...80,456,546
Ensembl chr15:80,339,951...80,456,372

G

secretin

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,382,857...196,383,668
Ensembl chr 1:196,382,856...196,383,658

G

SAGA complex associated factor 29

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:9311735 PMID:28492532 PMID:28542676

NCBI chr 1:181,238,458...181,271,931
Ensembl chr 1:181,238,468...181,274,781

G

SH2B adaptor protein 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:9311735 PMID:28492532 PMID:28542676

NCBI chr 1:181,048,622...181,057,036
Ensembl chr 1:181,048,623...181,056,579

G

SKI family transcriptional corepressor 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 8:63,599,153...63,609,727
Ensembl chr 8:63,599,165...63,607,756

G

SLAIN motif family, member 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:8001159 PMID:10528251 PMID:20127975 PMID:20157158 PMID:22589734 More...

NCBI chr15:80,482,818...80,542,461
Ensembl chr15:80,482,367...80,542,350

G

solute carrier family 17 member 9

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr 3:167,839,246...167,857,462
Ensembl chr 3:167,839,385...167,855,985

G

solute carrier family 25 member 22

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331

G

SLC2A4 regulator

ClinVar Annotator: match by term: Ceroid storage disease
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More...

NCBI chr 3:168,493,975...168,497,616

G

solute carrier organic anion transporter family, member 4a1

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr 3:167,559,177...167,578,307
Ensembl chr 3:167,559,316...167,578,305

G

SMAD family member 3

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960

G

SMAD family member 6

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763

G

sphingomyelin phosphodiesterase 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794

G

small nuclear RNA activating complex, polypeptide 5

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 8:64,677,204...64,680,769
Ensembl chr 8:64,677,205...64,681,964

G

superoxide dismutase 2

RGD

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

SPNS lysolipid transporter 1, lysophospholipid

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:9311735 PMID:28492532 PMID:28542676

NCBI chr 1:180,942,088...180,949,415
Ensembl chr 1:180,942,088...180,949,370

G

src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites

ClinVar Annotator: match by term: Ceroid storage disease
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More...

NCBI chr 3:168,318,511...168,324,915
Ensembl chr 3:168,318,512...168,324,915

G

stathmin 3

ClinVar Annotator: match by term: Ceroid storage disease
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More...

NCBI chr 3:168,416,810...168,424,946
Ensembl chr 3:168,416,810...168,425,056

G

sulfotransferase family 1A member 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:9311735 PMID:28492532 PMID:28542676

NCBI chr 1:181,272,022...181,276,750
Ensembl chr 1:181,272,023...181,275,562

G

synaptotagmin 8

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:197,588,126...197,593,598
Ensembl chr 1:197,590,149...197,593,504

G

TATA-box binding protein associated factor 10

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:160,095,108...160,096,401
Ensembl chr 1:160,095,108...160,096,376

G

transaldolase 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974

G

transcription factor like 5

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr 3:167,734,471...167,754,174
Ensembl chr 3:167,734,473...167,754,282

G

tyrosine hydroxylase

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767

G

translocase of inner mitochondrial membrane 10B

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:159,980,525...159,983,371
Ensembl chr 1:159,980,484...159,981,642

G

timeless interacting protein

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 8:64,780,813...64,801,358
Ensembl chr 8:64,780,828...64,801,352

G

transmembrane protein 80

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,435,999...196,444,368
Ensembl chr 1:196,436,003...196,444,367
Ensembl chr 1:196,436,003...196,444,367

G

troponin I2, fast skeletal type

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560

G

troponin T3, fast skeletal type

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535

G

toll interacting protein

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,961,585...196,984,252
Ensembl chr 1:196,950,771...196,983,625

G

TPD52 like 2

ClinVar Annotator: match by term: Ceroid storage disease
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More...

NCBI chr 3:168,598,449...168,618,201
Ensembl chr 3:168,594,609...168,619,762

G

tripeptidyl peptidase 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:9295267 PMID:9536098 PMID:9788728 PMID:10320038 PMID:10330339 More...

NCBI chr 1:160,097,984...160,104,108
Ensembl chr 1:160,096,833...160,104,129

G

tripartite motif-containing 3

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:159,950,921...159,973,600
Ensembl chr 1:159,944,908...159,973,600

G

transient receptor potential cation channel, subfamily M, member 5

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:198,254,956...198,277,824
Ensembl chr 1:198,255,723...198,277,654

G

tetraspanin 32

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:198,190,128...198,204,447
Ensembl chr 1:198,190,164...198,204,445

G

tetraspanin 4

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:196,571,307...196,593,842
Ensembl chr 1:196,572,228...196,617,448

G

tumor suppressing subtransferable candidate 4

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 1:198,251,986...198,254,810
Ensembl chr 1:198,235,487...198,254,980

G

Tu translation elongation factor, mitochondrial

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:9311735 PMID:28492532 PMID:28542676

NCBI chr 1:181,073,788...181,077,395
Ensembl chr 1:181,073,788...181,077,395

G

exportin 6

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:9311735 PMID:28492532 PMID:28542676

NCBI chr 1:180,672,114...180,761,543
Ensembl chr 1:180,672,119...180,761,543

G

YTH N6-methyladenosine RNA binding protein F1

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr 3:168,024,660...168,040,172
Ensembl chr 3:168,024,663...168,040,172

G

zinc finger and BTB domain containing 46

ClinVar Annotator: match by term: Ceroid storage disease
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More...

NCBI chr 3:168,497,294...168,567,799
Ensembl chr 3:168,499,583...168,568,782

G

zinc finger protein 512B

ClinVar Annotator: match by term: Ceroid storage disease

PMID:25921748 PMID:28492532 PMID:30866059

NCBI chr 3:168,687,520...168,698,067
Ensembl chr 3:168,687,521...168,698,091

G

zinc finger CCCH-type and G-patch domain containing

ClinVar Annotator: match by term: Ceroid storage disease
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More...

NCBI chr 3:168,473,836...168,490,380
Ensembl chr 3:168,473,981...168,490,380

G

zwilch kinetochore protein

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis

NCBI chr 8:64,638,401...64,670,911
Ensembl chr 8:64,637,672...64,675,916

neuronal ceroid lipofuscinosis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CLN8, transmembrane ER and ERGIC protein

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1

PMID:28492532 PMID:29503925

NCBI chr16:74,749,662...74,759,553
Ensembl chr16:74,749,662...74,759,774

G

fission, mitochondrial 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:19,708,560...19,723,392
Ensembl chr12:19,708,558...19,723,377

G

glial fibrillary acidic protein

CTD Direct Evidence: marker/mechanism

NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589

G

potassium channel tetramerization domain containing 7

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1

NCBI chr12:26,520,969...26,532,327
Ensembl chr12:26,523,142...26,532,138

G

mitofusin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640

G

poly (ADP-ribose) polymerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404

G

PPARG coactivator 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656

G

palmitoyl-protein thioesterase 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 | ClinVar Annotator: match by term: PPT1-related condition
OMIM:256730
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD
RGD

PMID:2538469 PMID:7637805 PMID:9425237 PMID:9536098 PMID:9571187 More...

NCBI chr 5:135,121,164...135,142,048
Ensembl chr 5:135,121,163...135,142,048

G

ribosomal protein S6 kinase B1

CTD Direct Evidence: marker/mechanism

NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908

G

sirtuin 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260

G

synaptophysin

CTD Direct Evidence: marker/mechanism

NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745

G

transcription factor A, mitochondrial

CTD Direct Evidence: marker/mechanism

NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292

neuronal ceroid lipofuscinosis 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cathepsin D

OMIM:610127
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 10

OMIM
MouseDO
CTD
ClinVar

PMID:10218883 PMID:16670177 PMID:16685649 PMID:24767253 PMID:25298308 More...

NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488

neuronal ceroid lipofuscinosis 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

granulin precursor

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 11

PMID:9536098 PMID:16862116 PMID:16950801 PMID:17228326 PMID:17371905 More...

NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775

neuronal ceroid lipofuscinosis 13

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cathepsin F

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 13

PMID:9536098 PMID:16199547 PMID:17576681 PMID:17828264 PMID:23297359 More...

NCBI chr 1:202,152,777...202,158,525
Ensembl chr 1:202,152,728...202,158,525

neuronal ceroid lipofuscinosis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

major facilitator superfamily domain containing 8

ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Jansky-Bielschowsky disease | ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Jansky-Bielschowsky disease | ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2

PMID:16199547 PMID:17564970 PMID:18414213 PMID:19177532 PMID:19201763 More...

NCBI chr 2:123,822,042...123,847,808
Ensembl chr 2:123,816,614...123,857,971

G

tripeptidyl peptidase 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2
OMIM:204500
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2

OMIM
ClinVar
MouseDO
CTD

PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:10356316 More...

NCBI chr 1:160,097,984...160,104,108
Ensembl chr 1:160,096,833...160,104,129

neuronal ceroid lipofuscinosis 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chloride voltage-gated channel 3

OMIM:204200

NCBI chr16:29,127,152...29,200,133
Ensembl chr16:29,127,419...29,200,119

G

chloride voltage-gated channel 6

OMIM:204200

NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059

G

CLN3 lysosomal/endosomal transmembrane protein, battenin

ClinVar Annotator: match by term: CLN3-Related Neuronal Ceroid-Lipofuscinosis | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 3, protracted | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 3 | ClinVar Annotator: match by term: Spielmeyer Sjogren disease
OMIM:204200

OMIM
ClinVar
MouseDO

PMID:7553855 PMID:7887420 PMID:9004140 PMID:9311735 PMID:9392580 More...

NCBI chr 1:181,156,071...181,169,458
Ensembl chr 1:181,156,073...181,167,434

G

palmitoyl-protein thioesterase 1

OMIM:204200

NCBI chr 5:135,121,164...135,142,048
Ensembl chr 5:135,121,163...135,142,048

neuronal ceroid lipofuscinosis 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DnaJ heat shock protein family (Hsp40) member C5

ClinVar Annotator: match by term: Kufs disease autosomal dominant | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4B

PMID:11489285 PMID:12112194 PMID:21820099 PMID:22073189 PMID:22235333 More...

NCBI chr 3:168,621,905...168,656,570
Ensembl chr 3:168,621,969...168,655,935

neuronal ceroid lipofuscinosis 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CLN5, intracellular trafficking protein

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 5
OMIM:256731
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:9536098 PMID:9662406 PMID:10953198 PMID:11971870 PMID:12134079 More...

NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438

neuronal ceroid lipofuscinosis 6A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CLN6, transmembrane ER protein

ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6
OMIM:601780
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:9536098 PMID:11727201 PMID:11791207 PMID:12673792 PMID:12815591 More...

NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360

G

galactosidase, beta 1

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6

PMID:10338095 PMID:11727201 PMID:12673792 PMID:15986423 PMID:16941474 More...

NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127

G

glycogen synthase kinase 3 beta

CTD Direct Evidence: marker/mechanism

NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646

G

mitogen activated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616

G

mitogen activated protein kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863

G

sphingomyelin phosphodiesterase 1

ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A

PMID:12369017 PMID:15221801 PMID:15234149 PMID:15241805 PMID:19405096 More...

NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794

G

syntaxin 6

CTD Direct Evidence: marker/mechanism

NCBI chr13:67,332,329...67,378,580
Ensembl chr13:67,332,314...67,378,576

G

synaptophysin

CTD Direct Evidence: marker/mechanism

NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745

neuronal ceroid lipofuscinosis 6B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CLN6, transmembrane ER protein

ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 4A autosomal recessive | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4A

PMID:3284607 PMID:12673792 PMID:12815591 PMID:14997940 PMID:18846690 More...

NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360

neuronal ceroid lipofuscinosis 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

abhydrolase domain containing 18

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7

PMID:19177532 PMID:28492532

NCBI chr 2:123,872,299...123,920,987
Ensembl chr 2:123,872,386...123,920,231

G

heat shock protein family A (Hsp70) member 4 like

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7

PMID:19177532 PMID:28492532

NCBI chr 2:123,740,384...123,793,088
Ensembl chr 2:123,740,384...123,793,084

G

inturned planar cell polarity protein

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7

PMID:19177532 PMID:28492532

NCBI chr 2:123,600,972...123,685,331
Ensembl chr 2:123,609,807...123,682,676

G

La ribonucleoprotein 1B

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7

PMID:19177532 PMID:28492532

NCBI chr 2:123,936,057...123,969,254
Ensembl chr 2:123,935,983...123,968,896

G

major facilitator superfamily domain containing 8

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7
OMIM:610951
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:9177532 PMID:9536098 PMID:15074367 PMID:16199547 PMID:17564970 More...

NCBI chr 2:123,822,042...123,847,808
Ensembl chr 2:123,816,614...123,857,971

G

polo-like kinase 4

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7

PMID:19177532 PMID:28492532

NCBI chr 2:123,802,527...123,820,942
Ensembl chr 2:123,802,512...123,820,942

G

solute carrier family 25 member 31

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7

PMID:19177532 PMID:28492532

NCBI chr 2:123,695,387...123,711,275
Ensembl chr 2:123,695,408...123,710,795

neuronal ceroid lipofuscinosis 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CLN8, transmembrane ER and ERGIC protein

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8
OMIM:600143
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 PMID:15074367 More...

NCBI chr16:74,749,662...74,759,553
Ensembl chr16:74,749,662...74,759,774

G

SMAD family member 3

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8

PMID:25326637 PMID:25741868 PMID:28492532

NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960

neuronal ceroid lipofuscinosis 8 northern epilepsy variant

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CLN8, transmembrane ER and ERGIC protein

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 northern epilepsy variant

PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 PMID:15074367 More...

NCBI chr16:74,749,662...74,759,553
Ensembl chr16:74,749,662...74,759,774

Neutral Lipid Storage Disease with Myopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

patatin-like phospholipase domain containing 2

ClinVar Annotator: match by term: Neutral lipid storage disease without ichthyosis
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:25741868 PMID:28492532 PMID:35460704

NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805

Niemann-Pick disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

protein:increased expression:cerebellum:

RGD

NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065

G

NPC intracellular cholesterol transporter 1

ClinVar Annotator: match by term: Niemann-Pick disease

MouseDO
ClinVar

PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 More...

NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049

G

NPC intracellular cholesterol transporter 2

NCBI chr 6:104,397,239...104,418,161
Ensembl chr 6:104,378,644...104,418,155

G

sphingomyelin phosphodiesterase 1

susceptibility

Niemann-Pick Disease, Type A, OMIM:257200, Type B, OMIM:607616;DNA:deletions, missense mutations: :multiple
ClinVar Annotator: match by term: Acid sphingomyelinase deficiency | ClinVar Annotator: match by term: Niemann-Pick disease | ClinVar Annotator: match by term: SPHINGOMYELINASE DEFICIENCY | ClinVar Annotator: match by term: Sphingomyelinase deficiency
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
RGD

PMID:1391960 PMID:1885770 PMID:2023926 PMID:8053910 PMID:12369017 More...

NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794

Niemann-Pick disease type A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amyloid beta precursor protein binding family B member 1

ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis

PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 More...

NCBI chr 1:159,896,889...159,920,505
Ensembl chr 1:159,896,880...159,920,627

G

inositol 1,4,5-trisphosphate receptor, type 1

disease_progression

protein:decreased expression:cerebellum (mouse)

RGD

NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491

G

NPC intracellular cholesterol transporter 1

ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis

PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 More...

NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049

G

sphingomyelin phosphodiesterase 1

ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar Annotator: match by term: SMPD1-related condition | ClinVar Annotator: match by term: SPHINGOMYELIN LIPIDOSIS | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 More...

NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794

Niemann-Pick disease type B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amyloid beta precursor protein binding family B member 1

ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis

PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 More...

NCBI chr 1:159,896,889...159,920,505
Ensembl chr 1:159,896,880...159,920,627

G

NPC intracellular cholesterol transporter 1

ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis

PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 More...

NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049

G

sphingomyelin phosphodiesterase 1

ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 More...

NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794

Niemann-Pick disease type C1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

abhydrolase domain containing 3, phospholipase

ClinVar Annotator: match by term: Niemann-Pick disease, type C1

NCBI chr18:1,723,203...1,778,488
Ensembl chr18:1,720,718...1,803,428

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

treatment

RGD

NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065

G

acylphosphatase 1

ClinVar Annotator: match by term: Niemann-Pick disease, type C1

PMID:23352160 PMID:23773996 PMID:24386122 PMID:24767253 PMID:25741868 More...

NCBI chr 6:104,919,162...104,932,348
Ensembl chr 6:104,919,162...104,932,387

G

ankyrin repeat domain 29

ClinVar Annotator: match by term: Niemann-Pick disease, type C1

PMID:9211850 PMID:20718790 PMID:28492532

NCBI chr18:3,436,301...3,494,292
Ensembl chr18:3,436,303...3,494,296

G

Cdk5 and Abl enzyme substrate 1

ClinVar Annotator: match by term: Niemann-Pick disease, type C1

PMID:9211850 PMID:20718790 PMID:28492532

NCBI chr18:3,076,556...3,181,181
Ensembl chr18:3,075,524...3,181,181

G

establishment of sister chromatid cohesion N-acetyltransferase 1

ClinVar Annotator: match by term: Niemann-Pick disease, type C1

NCBI chr18:1,630,560...1,686,803
Ensembl chr18:1,631,954...1,686,942

G

GATA binding protein 6

ClinVar Annotator: match by term: Niemann-Pick disease, type C1

NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532

G

GREB1 like retinoic acid receptor coactivator

ClinVar Annotator: match by term: Niemann-Pick disease, type C1

NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067

G

Janus kinase 2

treatment

RGD

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

laminin subunit alpha 3

ClinVar Annotator: match by term: Niemann-Pick disease, type C1

PMID:9211850 PMID:20718790 PMID:28492532

NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353

G

lipase A, lysosomal acid type

CTD Direct Evidence: therapeutic

NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633

G

MIB E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Niemann-Pick disease, type C1

NCBI chr18:1,802,519...1,926,988
Ensembl chr18:1,802,519...1,920,689

G

microRNA 1

ClinVar Annotator: match by term: Niemann-Pick disease, type C1

NCBI chr18:1,887,537...1,887,623

G

microRNA 133a-1

ClinVar Annotator: match by term: Niemann-Pick disease, type C1

NCBI chr18:1,885,082...1,885,168

G

NPC intracellular cholesterol transporter 1

ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form
ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Niemann-Pick disease, subacute juvenile form | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form
OMIM:257220
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:3165081 PMID:3378364 PMID:4795418 PMID:5465421 PMID:9211849 More...

NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049

G

NPC intracellular cholesterol transporter 2

ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1

PMID:11125141 PMID:11333381 PMID:11567215 PMID:12955717 PMID:15465422 More...

NCBI chr 6:104,397,239...104,418,161
Ensembl chr 6:104,378,644...104,418,155

G

RB binding protein 8, endonuclease

ClinVar Annotator: match by term: Niemann-Pick disease, type C1

PMID:9211850 PMID:20718790 PMID:28492532

NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846

G

RIO kinase 3

ClinVar Annotator: match by term: Niemann-Pick disease, type C1

PMID:9211850 PMID:20718790 PMID:28492532

NCBI chr18:3,327,776...3,353,350
Ensembl chr18:3,327,776...3,353,343

G

regulator of MON1-CCZ1

ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1

PMID:9211850 PMID:20718790 PMID:25741868 PMID:28492532

NCBI chr18:3,359,848...3,379,764
Ensembl chr18:3,359,832...3,380,795

G

sphingomyelin phosphodiesterase 1

ClinVar Annotator: match by term: Niemann-Pick disease, type C1

PMID:12369017 PMID:15221801 PMID:25741868 PMID:26499107 PMID:27243974 More...

NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794

G

small nuclear ribonucleoprotein D1 polypeptide

ClinVar Annotator: match by term: Niemann-Pick disease, type C1

NCBI chr18:1,696,838...1,707,400
Ensembl chr18:1,696,852...1,708,256

G

signal transducer and activator of transcription 3

treatment

RGD

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

synapse differentiation inducing 1-like

ClinVar Annotator: match by term: Niemann-Pick disease, type C1

NCBI chr 6:104,318,096...104,344,989
Ensembl chr 6:104,323,424...104,344,891

G

transmembrane protein 241

ClinVar Annotator: match by term: Niemann-Pick disease, type C1

PMID:9211850 PMID:20718790 PMID:28492532

NCBI chr18:3,168,072...3,318,340
Ensembl chr18:3,168,067...3,318,293

Niemann-Pick disease type C2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acylphosphatase 1

ClinVar Annotator: match by term: Niemann-Pick disease, type C2

PMID:12955717 PMID:15937921 PMID:23352160 PMID:23773996 PMID:24386122 More...

NCBI chr 6:104,919,162...104,932,348
Ensembl chr 6:104,919,162...104,932,387

G

NPC intracellular cholesterol transporter 1

ClinVar Annotator: match by term: Niemann-Pick disease, type C2

NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049

G

NPC intracellular cholesterol transporter 2

ClinVar Annotator: match by term: Niemann-Pick disease, type C2
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:11125141 PMID:11333381 PMID:11567215 PMID:12447927 More...

NCBI chr 6:104,397,239...104,418,161
Ensembl chr 6:104,378,644...104,418,155

Niemann-Pick Disease Type D

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NPC intracellular cholesterol transporter 1

ClinVar Annotator: match by term: Niemann-Pick disease, type D

PMID:9245994 PMID:9634529 PMID:11333381 PMID:11545687 PMID:12401890 More...

NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049

Niemann-Pick Disease, Intermediate, Protracted Neurovisceral

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sphingomyelin phosphodiesterase 1

ClinVar Annotator: match by term: Niemann-pick disease, intermediate, protracted neurovisceral

PMID:7762557 PMID:8051942 PMID:9266408 PMID:14681755 PMID:15234149 More...

NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794

non-alcoholic fatty liver

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aryl hydrocarbon receptor

RGD

NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568

G

androgen receptor

ameliorates

RGD

NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925

G

autophagy related 7

treatment

RGD

NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593

G

beclin 1

treatment

RGD

NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742

G

C-C motif chemokine ligand 5

protein:increased expression:serum:

RGD

NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377

G

cAMP responsive element binding protein 1

treatment

RGD

NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816

G

gamma-glutamyltransferase 1

protein:increased expression:serum:

RGD

NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442

G

glutamic--pyruvic transaminase

protein:increased expression:liver,serum

RGD

NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494

G

glutamic--pyruvic transaminase 2

protein:increased expression:liver,serum

RGD

NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610

G

5-hydroxytryptamine receptor 2A

associated with morbid obesity;mRNA:decreased expression:liver

RGD

NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928

G

5-hydroxytryptamine receptor 2B

associated with morbid obesity;mRNA:decreased expression:liver

RGD

NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108

G

isocitrate dehydrogenase (NADP(+)) 2

severity
susceptibility

RGD

PMID:29861476 PMID:31064654

RGD:14985251, RGD:14985252

NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025

G

nerve growth factor

protein:increased expression:plasma

RGD

NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452

G

nuclear receptor subfamily 1, group H, member 4

severity

cholic acid fed FXR-/- mouse

RGD

NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047

Phospholipidosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fc gamma receptor 2B

mRNA:increased expression:heart, blood

RGD

NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778

Pseudoarylsulfatase A Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arylsulfatase A

ClinVar Annotator: match by term: Pseudoarylsulfatase A deficiency

PMID:8101038 PMID:15326627 PMID:15720392 PMID:24001781 PMID:25741868 More...

NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783

Retinal Dystrophy and Microvillus Inclusion Disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

syntaxin 3

ClinVar Annotator: match by term: Retinal dystrophy and microvillus inclusion disease

NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805

Reye syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

albumin

treatment

RGD

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

thioredoxin interacting protein

NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886

Sandhoff disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat and death domain containing 1B

ClinVar Annotator: match by term: Sandhoff disease

NCBI chr 2:27,750,301...27,814,291
Ensembl chr 2:27,750,987...27,813,734

G

ankyrin repeat domain 31

ClinVar Annotator: match by term: Sandhoff disease

NCBI chr 2:28,079,187...28,241,722
Ensembl chr 2:28,092,882...28,241,719

G

C-C motif chemokine ligand 3

RGD

NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938

G

ceramide transporter 1

ClinVar Annotator: match by term: Sandhoff disease

NCBI chr 2:27,882,546...27,987,090
Ensembl chr 2:27,882,555...27,987,074

G

family with sequence similarity 169, member A

ClinVar Annotator: match by term: Sandhoff disease

NCBI chr 2:28,384,162...28,441,361
Ensembl chr 2:28,383,784...28,438,910

G

glucosaminyl (N-acetyl) transferase 4

ClinVar Annotator: match by term: Sandhoff disease

NCBI chr 2:28,253,325...28,283,082
Ensembl chr 2:28,252,860...28,283,082

G

GTP dependent ribosome recycling factor mitochondrial 2

ClinVar Annotator: match by term: Sandhoff disease

PMID:7550345 PMID:18758829 PMID:28492532

NCBI chr 2:28,449,452...28,488,200
Ensembl chr 2:28,449,517...28,488,197

G

hexosaminidase subunit beta

ClinVar Annotator: match by term: Sandhoff disease | ClinVar Annotator: match by term: Sandhoff disease, chronic | ClinVar Annotator: match by term: Sandhoff-Jatzkewitz-Pilz disease
ClinVar Annotator: match by term: GM2 gangliosidosis, type 2 | ClinVar Annotator: match by term: Sandhoff disease | ClinVar Annotator: match by term: Sandhoff disease, chronic | ClinVar Annotator: match by term: Sandhoff-Jatzkewitz-Pilz disease
OMIM:268800
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:10724 PMID:571983 PMID:868875 PMID:1386607 PMID:1487253 More...

NCBI chr 2:28,483,997...28,504,165
Ensembl chr 2:28,484,012...28,504,223

G

3-hydroxy-3-methylglutaryl-CoA reductase

ClinVar Annotator: match by term: Sandhoff disease

NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703

G

NSA2 ribosome biogenesis factor

ClinVar Annotator: match by term: Sandhoff disease

NCBI chr 2:28,443,142...28,449,393
Ensembl chr 2:28,441,269...28,449,388

G

POC5 centriolar protein

ClinVar Annotator: match by term: Sandhoff disease

NCBI chr 2:27,719,745...27,748,805
Ensembl chr 2:27,719,762...27,748,805

G

DNA polymerase kappa

ClinVar Annotator: match by term: Sandhoff disease

NCBI chr 2:27,822,228...27,882,331
Ensembl chr 2:27,822,679...27,882,313

Sandhoff Disease, Adult Type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hexosaminidase subunit beta

ClinVar Annotator: match by term: Sandhoff disease, adult type

PMID:571983 PMID:1386607 PMID:1531140 PMID:2147027 PMID:2948136 More...

NCBI chr 2:28,483,997...28,504,165
Ensembl chr 2:28,484,012...28,504,223

Sandhoff Disease, Infantile Type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ectodermal-neural cortex 1

ClinVar Annotator: match by term: Sandhoff disease, infantile type

NCBI chr 2:28,550,670...28,562,591
Ensembl chr 2:28,550,464...28,562,713

G

hexosaminidase subunit beta

ClinVar Annotator: match by term: Sandhoff disease, infantile type

PMID:7550345 PMID:7633435 PMID:8045559 PMID:8162015 PMID:9888387 More...

NCBI chr 2:28,483,997...28,504,165
Ensembl chr 2:28,484,012...28,504,223

Sandhoff Disease, Juvenile Type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hexosaminidase subunit beta

ClinVar Annotator: match by term: Sandhoff disease, juvenile type

PMID:10724 PMID:1386607 PMID:1531140 PMID:1720305 PMID:2147027 More...

NCBI chr 2:28,483,997...28,504,165
Ensembl chr 2:28,484,012...28,504,223

sea-blue histiocytosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apolipoprotein E

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sea-blue histiocyte syndrome | ClinVar Annotator: match by term: Sea-blue histiocytosis

CTD
OMIM
ClinVar

PMID:8488843 PMID:9279208 PMID:9360638 PMID:11095479 PMID:22949395 More...

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

Siddiqi syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fat storage-inducing transmembrane protein 2

ClinVar Annotator: match by term: Siddiqi syndrome

PMID:25741868 PMID:28067622 PMID:30214770 PMID:30288795

NCBI chr 3:152,141,346...152,147,858
Ensembl chr 3:152,141,346...152,147,858

Sjogren-Larsson syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldehyde dehydrogenase 3 family, member A2

ClinVar Annotator: match by term: ALDH3A2-related condition | ClinVar Annotator: match by term: FATTY ALCOHOL:NAD+ OXIDOREDUCTASE DEFICIENCY | ClinVar Annotator: match by term: Fatty aldehyde dehydrogenase deficiency | ClinVar Annotator: match by term: Ichthyosis, spastic neurologic disorder, and oligophrenia
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:8528251 PMID:9204959 PMID:9250352 PMID:9254849 PMID:9467812 More...

NCBI chr10:45,928,313...45,949,366
Ensembl chr10:45,908,524...45,949,281

G

keratin 14

ClinVar Annotator: match by term: Ichthyosis, spastic neurologic disorder, and oligophrenia

PMID:10971341 PMID:16614722 PMID:25741868 PMID:27283507 PMID:28492532 More...

NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799

sphingolipidosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N-acylsphingosine amidohydrolase 1

susceptibility

RGD

NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233

G

sulfatase modifying factor 1

Multiple Sulfatase Deficiency Disease

RGD

NCBI chr 4:141,078,735...141,160,711
Ensembl chr 4:141,078,741...141,160,708

steatotic liver disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 1

treatment

associated with adult growth hormone deficiency

RGD

PMID:15995177 PMID:26362727 PMID:30130150

RGD:1598534, RGD:21408552, RGD:18936993

NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170

G

ATP binding cassette subfamily C member 2

RGD

NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238

G

ATP binding cassette subfamily C member 3

mRNA, protein:increased expression:liver

RGD

NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595

G

acetyl-CoA carboxylase alpha

RGD

NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457

G

acetyl-CoA carboxylase beta

RGD

NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655

G

acetyl-CoA acetyltransferase 1

treatment

RGD

NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855

G

acyl-CoA oxidase 1

treatment

RGD

NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232

G

adiponectin, C1Q and collagen domain containing

associated with hepatitis C;protein:increased expression:serum
protein:increased expression:plasma

RGD

PMID:17006986 PMID:20714777 PMID:16115302

RGD:1599139, RGD:5686883, RGD:5686674

NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564

G

adiponectin receptor 2

treatment

associated with Diabetes Mellitus, Experimental

RGD

PMID:30225267 PMID:19076162

RGD:21406435, RGD:2307264

NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355

G

adenosine kinase

OMIM:228100

NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510

G

adrenoceptor beta 2

RGD

NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512

G

alkaline phosphatase 3, intestine, not Mn requiring

RGD

NCBI chr 9:87,804,680...87,808,715
Ensembl chr 9:87,804,749...87,807,913

G

AKT serine/threonine kinase 1

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:32045588 PMID:25160038

NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

G

alkaline phosphatase, biomineralization associated

associated with obesity

RGD

NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446

G

angiopoietin-like 4

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:28842503 PMID:15837923

NCBI chr 7:14,550,288...14,557,797
Ensembl chr 7:14,550,311...14,556,519

G

apolipoprotein A1

treatment

RGD

NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035

G

apolipoprotein B

mRNA:increased expression:liver
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12048068 PMID:17303181 PMID:17203948

NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497

G

apolipoprotein E

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:32853627 PMID:29459263

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

activating transcription factor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 7:111,804,135...111,806,457
Ensembl chr 7:111,804,183...111,806,446

G

activating transcription factor 6

treatment

RGD

NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177

G

ATP synthase inhibitory factor subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:144,738,950...144,742,668
Ensembl chr 5:144,738,950...144,742,668

G

ATPase copper transporting beta

CTD Direct Evidence: marker/mechanism

NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636

G

baculoviral IAP repeat-containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802

G

carbonic anhydrase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:86,770,418...86,780,011
Ensembl chr 2:86,770,420...86,784,280

G

catalase

protein:decreased expression:liver
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:10860543 PMID:21452373

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:29684222 PMID:22983634

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 5

mRNA:increased expression:liver

RGD

PMID:28011329 PMID:28011329

RGD:14995306, RGD:14995306

NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377

G

CD163 molecule

associated with hepatitis B;protein:increased expression:blood serum (human)

RGD

NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878

G

CD36 molecule

RGD

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

CCAAT/enhancer binding protein beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473

G

carnosine dipeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr18:78,039,924...78,057,030
Ensembl chr18:78,039,932...78,056,922

G

collagen type III alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547

G

carboxypeptidase E

mRNA:decreased expression:stomach (human)

RGD

NCBI chr16:25,030,276...25,142,231
Ensembl chr16:25,030,276...25,142,233

G

carbamoyl-phosphate synthase 1

protein:increased expression:liver (rat)

RGD

NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033

G

cAMP responsive element binding protein 1

RGD

NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816

G

cathepsin B

mRNA, protein:increased expression, increased activity:liver, cytosol (rat)

RGD

NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500

G

C-X-C motif chemokine ligand 10

mRNA,protein:increased expression:liver,serum

RGD

NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975

G

cytochrome c, somatic

CTD Direct Evidence: marker/mechanism

NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
Ensembl chr18:79,651,378...79,654,054

G

cytochrome P450, family 19, subfamily a, polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758

G

cytochrome P450, family 1, subfamily b, polypeptide 1

CTD Direct Evidence: therapeutic

NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917

G

cytochrome P450, family 27, subfamily b, polypeptide 1

mRNA:increased expression:liver (mouse)

RGD

NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241

G

cytochrome P450, family 2, subfamily e, polypeptide 1

protein:increased expression:liver
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:18952117 PMID:19404342 PMID:14606109

RGD:4892244, RGD:1626302

NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023

G

cytochrome P450 family 7 subfamily B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698

G

DNA-damage inducible transcript 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201

G

diacylglycerol O-acyltransferase 2

treatment

RGD

NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428

G

dehydrogenase/reductase 7

CTD Direct Evidence: marker/mechanism

NCBI chr 6:91,332,259...91,347,856
Ensembl chr 6:91,251,323...91,347,892

G

eukaryotic translation initiation factor 2 alpha kinase 3

treatment

RGD

NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911

G

endothelial PAS domain protein 1

RGD

NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228

G

endoplasmic reticulum to nucleus signaling 1

treatment

RGD

NCBI chr10:91,326,889...91,421,201
Ensembl chr10:91,330,654...91,421,029

G

coagulation factor II, thrombin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486

G

coagulation factor II (thrombin) receptor

CTD Direct Evidence: marker/mechanism

PMID:20008134 PMID:21907177 PMID:22841818

NCBI chr 2:26,869,343...26,885,856
Ensembl chr 2:26,868,404...26,885,870

G

fatty acid binding protein 1

Western diet-induced hepatic steatosis

RGD

NCBI chr 4:103,191,015...103,194,791
Ensembl chr 4:103,191,006...103,194,788

G

fibroblast growth factor 21

severity

CTD Direct Evidence: therapeutic

CTD
RGD

PMID:24184811 PMID:32195457

NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454

G

Fibroblast growth factor receptor 1

severity

RGD

NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350

G

fission, mitochondrial 1

protein:increased expression:liver (rat)

RGD

NCBI chr12:19,708,560...19,723,392
Ensembl chr12:19,708,558...19,723,377

G

forkhead box A1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188

G

glucose-6-phosphatase catalytic subunit 1

mRNA:increased expression:liver (rat)

RGD

NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804

G

glucokinase

associated with Hyperglycemia

RGD

PMID:22925001 PMID:22925001

RGD:7488945, RGD:7488945

NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995

G

gamma-glutamyltransferase 1

disease_progression

RGD

NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442

G

glycerol-3-phosphate dehydrogenase 1 like

CTD Direct Evidence: marker/mechanism

NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723

G

glutamic--pyruvic transaminase

CTD Direct Evidence: marker/mechanism
protein:increased expression:serum

CTD
RGD

PMID:19481104 PMID:30185098

NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494

G

glutamic--pyruvic transaminase 2

mRNA:increased expression:liver

RGD

NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610

G

glutathione peroxidase 1

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:10860543 PMID:30298849

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

glutathione peroxidase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982

G

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha

DNA:point mutations: ;1132C>T,1528G>C;LCHAD deficiency,OMIM:609015

RGD

NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869

G

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869

G

hyaluronan synthase 3

CTD Direct Evidence: marker/mechanism

NCBI chr19:34,768,421...34,782,170
Ensembl chr19:34,771,982...34,782,592

G

homeostatic iron regulator

no_association

Non-alcoholic steatohepatitis (NASH)
non-alcoholic fatty liver disease

RGD

PMID:12105842 PMID:11473047

RGD:1601460, RGD:1601452

NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502

G

hematopoietically expressed homeobox

CTD Direct Evidence: marker/mechanism

NCBI chr 1:235,190,455...235,196,042
Ensembl chr 1:235,190,455...235,196,042

G

histocompatibility minor 13

associated with hepatitis

RGD

NCBI chr 3:141,145,792...141,183,557
Ensembl chr 3:141,145,782...141,184,703

G

hydroxysteroid (17-beta) dehydrogenase 13

ClinVar Annotator: match by term: HSD17B13 POLYMORPHISM

PMID:29562163 PMID:34930143

NCBI chr14:5,751,697...5,766,809
Ensembl chr14:5,752,132...5,768,166

G

heat shock protein family A (Hsp70) member 5

treatment

associated with Diabetes Mellitus, Experimental;mRNA:increased expression:liver:

RGD

PMID:23647685 PMID:27813192

RGD:11354957, RGD:401842386

NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891

G

5-hydroxytryptamine receptor 2A

associated with morbid obesity;mRNA:decreased expression:liver

RGD

NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928

G

5-hydroxytryptamine receptor 2B

associated with morbid obesity;mRNA:decreased expression:liver

RGD

NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

OMIM:228100

NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499

G

interleukin 10

associated with Diabetes Mellitus

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 13 receptor subunit alpha 2

RGD

NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381

G

interleukin 18

RGD

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 1 beta

protein:increased expression:serum
mRNA:decreased expression:stomach (human)

RGD

PMID:17436085 PMID:24716593

RGD:1626661, RGD:405650681

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 6

associated with Diabetes Mellitus; protein:increased expression:extracellular space (mouse)
associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:liver, extracellular space (rat)

RGD

PMID:19205029 PMID:19076162

RGD:2307258, RGD:2307264

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

insulin 2

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:9048448 PMID:18713300

NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775

G

insulin induced gene 1

severity

associated with Obesity
associated with Obesity;mRNA:increased expression:liver

RGD

PMID:15096598 PMID:15096598

RGD:2308857, RGD:2308857

NCBI chr 4:7,315,494...7,323,972
Ensembl chr 4:7,315,495...7,323,952

G

insulin induced gene 2

severity

associated with Obesity

RGD

NCBI chr13:32,472,390...32,500,139
Ensembl chr13:32,473,742...32,494,923

G

insulin receptor

treatment

associated with obesity;human gene in mouse model
protein:decreased phosphorylation: liver (rat)

RGD

PMID:25160038 PMID:30642871 PMID:22546076

RGD:14700926, RGD:14701028, RGD:14700935

NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883

G

Janus kinase 2

RGD

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

Kelch-like ECH-associated protein 1

RGD

NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862

G

low density lipoprotein receptor

OMIM:228100
CTD Direct Evidence: marker/mechanism

MouseDO
CTD
RGD

PMID:25554529 PMID:36108984 PMID:29459263

NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580

G

low density lipoprotein receptor; CRISPR/Cas9 induced mutant 1, Dlli

RGD

G

leptin

severity

associated with morbid obesity;protein:decreased exprssion:serum (human)
CTD Direct Evidence: marker/mechanism
OMIM:228100

CTD
MouseDO
RGD

PMID:12661780 PMID:19716478 PMID:24525044 PMID:25554529 PMID:27071101 More...

NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262

G

leptin receptor

CTD Direct Evidence: marker/mechanism

PMID:25367288 PMID:29743445

NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908

G

galectin 3

OMIM:228100

NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025

G

LDL receptor related protein 6

OMIM:228100

NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497

G

mitogen-activated protein kinase kinase kinase 8

ameliorates

RGD

NCBI chr17:53,382,908...53,403,216
Ensembl chr17:53,383,131...53,403,216

G

mitogen-activated protein kinase 8

RGD

NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981

G

methionine adenosyltransferase 1A

CTD Direct Evidence: marker/mechanism

NCBI chr16:16,983,084...17,001,284
Ensembl chr16:16,983,022...17,001,274

G

melanocortin 4 receptor

OMIM:228100

NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876

G

mitofusin 2

protein:decreased expression:liver (rat)

RGD

NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342

G

microRNA 10b

CTD Direct Evidence: marker/mechanism

NCBI chr 3:59,628,438...59,628,546
Ensembl chr 3:59,628,438...59,628,546

G

microRNA 125a

RGD

NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710

G

microRNA 134

CTD Direct Evidence: marker/mechanism

NCBI chr 6:128,748,908...128,748,980

G

microRNA 139

CTD Direct Evidence: marker/mechanism

NCBI chr 1:155,878,828...155,878,895
Ensembl chr 1:155,878,825...155,878,902

G

microRNA 148b

CTD Direct Evidence: marker/mechanism

NCBI chr 7:134,421,398...134,421,494
Ensembl chr 7:134,421,398...134,421,494

G

microRNA 150

CTD Direct Evidence: marker/mechanism

NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108

G

microRNA 154

CTD Direct Evidence: marker/mechanism

NCBI chr 6:128,752,947...128,753,030
Ensembl chr 6:128,752,947...128,753,030

G

microRNA 17

CTD Direct Evidence: marker/mechanism

NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712

G

microRNA 183

CTD Direct Evidence: marker/mechanism

NCBI chr 4:58,788,614...58,788,723
Ensembl chr 4:58,788,614...58,788,723

G

microRNA 219a-1

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,829,687...4,829,796
Ensembl chr20:4,829,687...4,829,796

G

microRNA 22

severity

RGD

PMID:32195457 PMID:32195457

RGD:25330354, RGD:25330354

NCBI chr10:60,307,039...60,307,133
Ensembl chr10:60,307,039...60,307,133

G

microRNA 224

associated with Hepatitis C, Chronic;miRNA:increased expression:liver (human)

RGD

NCBI chr X:150,065,088...150,065,169
Ensembl chr X:150,065,088...150,065,169

G

microRNA 320a

CTD Direct Evidence: marker/mechanism

NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473

G

microRNA 34a

CTD Direct Evidence: marker/mechanism

NCBI chr 5:160,533,002...160,533,103
Ensembl chr 5:160,533,002...160,533,103

G

microRNA 410

CTD Direct Evidence: marker/mechanism

NCBI chr 6:128,758,358...128,758,433
Ensembl chr 6:128,758,354...128,758,434

G

microRNA 449c

CTD Direct Evidence: marker/mechanism

NCBI chr 2:44,669,179...44,669,277
Ensembl chr 2:44,669,179...44,669,277

G

microRNA 503

CTD Direct Evidence: marker/mechanism

NCBI chr X:132,806,303...132,806,373
Ensembl chr X:132,806,303...132,806,373

G

microRNA 542

CTD Direct Evidence: marker/mechanism

NCBI chr X:132,802,623...132,802,701
Ensembl chr X:132,802,623...132,802,701

G

methylenetetrahydrofolate reductase

associated with Hepatitis C, Chronic; DNA:transition:cds:g.677C>T (human)

RGD

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

microsomal triglyceride transfer protein

associated with Hepatitis C;mRNA:decreased expression:liver
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:17303181 PMID:16697730

NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: therapeutic

NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630

G

nei-like DNA glycosylase 1

CTD Direct Evidence: marker/mechanism

PMID:16446448 PMID:21285402

NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:28555106 PMID:22367278

NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737

G

nuclear factor kappa B subunit 1

RGD

NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404

G

NADPH oxidase 4

treatment

RGD

NCBI chr 1:140,900,886...141,078,844
Ensembl chr 1:140,901,097...141,077,406

G

NAD(P)H quinone dehydrogenase 1

protein:increased activity:liver

RGD

NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557

G

nuclear receptor subfamily 0, group B, member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609

G

nuclear receptor subfamily 1, group D, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:83,728,348...83,735,562
Ensembl chr10:83,728,318...83,735,705

G

nuclear receptor subfamily 1, group H, member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722

G

nuclear receptor subfamily 1, group H, member 4

treatment
severity

CTD Direct Evidence: marker/mechanism
knockout eliminates treatment effectiveness

CTD
RGD

PMID:29142166 PMID:12971955 PMID:23104131

RGD:15045573, RGD:14696795

NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047

G

nuclear receptor subfamily 1, group I, member 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658

G

nuclear receptor subfamily 3, group C, member 2

treatment

RGD

NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885

G

neuronal regeneration related protein

CTD Direct Evidence: marker/mechanism

NCBI chr18:25,017,069...25,046,593
Ensembl chr18:25,017,083...25,046,591

G

NUS1 dehydrodolichyl diphosphate synthase subunit

CTD Direct Evidence: therapeutic

NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561

G

OPA1, mitochondrial dynamin like GTPase

protein:increased expression:liver (rat)
ClinVar Annotator: match by term: Hepatic steatosis

PMID:12036970 PMID:19303950 PMID:20157015 PMID:22857269 PMID:23388408 More...

NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109

G

ornithine transcarbamylase

protein:increased expression:serum (rat)

RGD

NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918

G

peroxisomal biogenesis factor 5

RGD

NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431

G

plasminogen activator, urokinase

OMIM:228100

NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775

G

perilipin 2

associated with Obesity
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16439473 PMID:17484887

NCBI chr 5:101,156,648...101,211,738
Ensembl chr 5:101,154,411...101,242,319

G

patatin-like phospholipase domain containing 3

severity

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hepatic steatosis
associated with Hepatitis B, Chronic;DNA:SNP: :rs738409 (p.I148M) (human)
associated with Wilson disease;DNA:SNP: :rs738409 (p.I148M) (human)
associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human)

CTD
ClinVar
RGD

PMID:21381068 PMID:24033266 PMID:24917523 PMID:25678388 PMID:25741868 More...

RGD:14981590, RGD:11055420, RGD:14981585, RGD:14981583

NCBI chr 7:115,293,538...115,314,077
Ensembl chr 7:115,293,538...115,314,077

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

peroxisome proliferator activated receptor alpha

associated with Diabetes Mellitus (CTD:0000249); in high fat-fed foz/foz obese/diabetic mice
associated with Hepatitis C, Chronic;mRNA:decreased expression:liver (human)
CTD Direct Evidence: therapeutic

CTD
RGD

PMID:19124612 PMID:21929649 PMID:16393287

RGD:5509939, RGD:15042851

NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346

G

peroxisome proliferator-activated receptor delta

CTD Direct Evidence: marker/mechanism

NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968

G

peroxisome proliferator-activated receptor gamma

treatment

RGD

PMID:15112352 PMID:30298849

RGD:1580685, RGD:401960083

NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468

G

PPARG coactivator 1 alpha

treatment

protein:decreased methylation:liver (rat)

RGD

PMID:23274094 PMID:22521344 PMID:23174781

RGD:7241844, RGD:7242179, RGD:7242012

NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656

G

protein kinase AMP-activated catalytic subunit alpha 1

RGD

NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978

G

protein kinase C, delta

RGD

NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352

G

protein arginine methyltransferase 7

ClinVar Annotator: match by term: Hepatic steatosis

PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392

NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577

G

proteasome 20S subunit alpha 5

CTD Direct Evidence: marker/mechanism

NCBI chr 2:195,896,369...195,919,733
Ensembl chr 2:195,896,365...195,919,731

G

phosphatase and tensin homolog

protein:decreased expression:liver
OMIM:228100
CTD Direct Evidence: marker/mechanism

MouseDO
CTD
RGD

PMID:27022031 PMID:18166358 PMID:15199412

RGD:2292522, RGD:1302555

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

prostaglandin-endoperoxide synthase 2

mRNA,protein:increased expression:liver

RGD

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

prothymosin alpha

CTD Direct Evidence: therapeutic

NCBI chr 9:87,176,251...87,180,333
Ensembl chr 9:87,176,230...87,180,333

G

RELA proto-oncogene, NF-kB subunit

RGD

NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484

G

receptor-interacting serine-threonine kinase 3

CTD Direct Evidence: therapeutic

NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121

G

stearoyl-CoA desaturase

CTD Direct Evidence: therapeutic

NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562

G

serpin family A member 6

CTD Direct Evidence: marker/mechanism

NCBI chr 6:122,780,040...122,790,274
Ensembl chr 6:122,780,043...122,790,349

G

serpin family E member 1

CTD Direct Evidence: marker/mechanism

PMID:18641190 PMID:29684222

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

SHC adaptor protein 1

associated with Obesity

RGD

NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536

G

sirtuin 1

associated with Obesity
OMIM:228100
CTD Direct Evidence: marker/mechanism|therapeutic

MouseDO
CTD
RGD

PMID:21321189 PMID:23834033 PMID:24184811 PMID:24210820 PMID:24442997 More...

NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260

G

sirtuin 6

CTD Direct Evidence: therapeutic

NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914

G

sirtuin 7

CTD Direct Evidence: marker/mechanism

NCBI chr10:105,896,476...105,903,301
Ensembl chr10:105,896,476...105,903,172

G

solute carrier family 13 member 5

CTD Direct Evidence: marker/mechanism

NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945

G

solute carrier family 22 member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 1:205,496,331...205,516,378
Ensembl chr 1:205,498,084...205,517,450

G

solute carrier family 27 member 4

mRNA, protein:increased expression

RGD

NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943

G

solute carrier family 2 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933

G

solute carrier organic anion transporter family, member 1a4

RGD

NCBI chr 4:174,710,004...174,764,810
Ensembl chr 4:174,710,004...175,254,573

G

suppressor of cytokine signaling 1

associated with Obesity

RGD

NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383

G

suppressor of cytokine signaling 3

associated with Obesity

RGD

NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787

G

superoxide dismutase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

sterol regulatory element binding transcription factor 1

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:24469900 PMID:27813192

NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650

G

signal transducer and activator of transcription 4

RGD

NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540

G

steroid sulfatase

CTD Direct Evidence: therapeutic

NCBI chr X:42,225,131...42,233,403
Ensembl chr X:42,225,372...42,233,402

G

sulfite oxidase

protein:decreased expression:liver

RGD

NCBI chr 7:1,103,149...1,107,156
Ensembl chr 7:1,103,151...1,107,038

G

transferrin

CTD Direct Evidence: marker/mechanism

PMID:20008134 PMID:21907177

NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511

G

toll-like receptor 4

CTD Direct Evidence: marker/mechanism

PMID:18641190 PMID:27022031

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

thioredoxin 1

RGD

NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629

G

uncoupling protein 2

mRNA:increased expression:liver
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:10860543 PMID:21114362

NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611

G

vitamin D receptor

RGD

PMID:30905785 PMID:30905785

RGD:14402029, RGD:14402029

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

G

X-box binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693

Tay-Sachs disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADP-dependent glucokinase

ClinVar Annotator: match by term: Tay-Sachs disease

PMID:1833974 PMID:8490625 PMID:28492532

NCBI chr 8:59,699,400...59,727,352
Ensembl chr 8:59,699,388...59,727,351

G

ariadne RBR E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Tay-Sachs disease

PMID:1833974 PMID:8490625 PMID:28492532

NCBI chr 8:59,777,378...59,879,762
Ensembl chr 8:59,777,379...59,880,245

G

Bardet-Biedl syndrome 4

ClinVar Annotator: match by term: Tay-Sachs disease

PMID:1833974 PMID:8490625 PMID:28492532

NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607

G

Cd276 molecule

ClinVar Annotator: match by term: Tay-Sachs disease

PMID:1833974 PMID:8490625 PMID:28492532

NCBI chr 8:58,937,751...58,968,082
Ensembl chr 8:58,937,751...58,968,380

G

CUGBP, Elav-like family member 6

ClinVar Annotator: match by term: Tay-Sachs disease

PMID:1833974 PMID:8490625 PMID:28492532

NCBI chr 8:59,975,095...60,006,060
Ensembl chr 8:59,975,088...60,005,041

G

ganglioside GM2 activator

ClinVar Annotator: match by term: Tay-Sachs disease

NCBI chr10:39,219,221...39,231,756
Ensembl chr10:39,219,243...39,231,757

G

GRAM domain containing 2A

ClinVar Annotator: match by term: Tay-Sachs disease

PMID:1833974 PMID:8490625 PMID:28492532

NCBI chr 8:60,079,744...60,117,788
Ensembl chr 8:60,080,338...60,115,842

G

hyperpolarization activated cyclic nucleotide-gated potassium channel 4

ClinVar Annotator: match by term: Tay-Sachs disease

PMID:1833974 PMID:8490625 PMID:28492532

NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639

G

hexosaminidase subunit alpha

ClinVar Annotator: match by term: GM2-ganglioside accumulation | ClinVar Annotator: match by term: Tay-Sachs disease | ClinVar Annotator: match by term: Tay-sachs disease, juvenile/adult
OMIM:272800
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD
RGD

PMID:803011 PMID:1269177 PMID:1301189 PMID:1301190 PMID:1301937 More...

NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013

G

inhibitory synaptic factor 1

ClinVar Annotator: match by term: Tay-Sachs disease

PMID:1833974 PMID:8490625 PMID:28492532

NCBI chr 8:58,904,153...58,914,850
Ensembl chr 8:58,904,153...58,914,843

G

lysyl oxidase-like 1

ClinVar Annotator: match by term: Tay-Sachs disease

PMID:1833974 PMID:8490625 PMID:28492532

NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356

G

myosin IXA

ClinVar Annotator: match by term: Tay-Sachs disease

PMID:1833974 PMID:8490625 PMID:28492532

NCBI chr 8:60,149,234...60,352,330
Ensembl chr 8:60,149,234...60,350,514

G

neogenin 1

ClinVar Annotator: match by term: Tay-Sachs disease

PMID:1833974 PMID:8490625 PMID:28492532

NCBI chr 8:59,273,860...59,426,486
Ensembl chr 8:59,275,569...59,430,348

G

neuroplastin

ClinVar Annotator: match by term: Tay-Sachs disease

PMID:1833974 PMID:8490625 PMID:28492532

NCBI chr 8:58,996,873...59,063,402
Ensembl chr 8:58,996,887...59,063,401

G

nuclear receptor subfamily 2, group E, member 3

ClinVar Annotator: match by term: Tay-Sachs disease

PMID:1833974 PMID:8490625 PMID:28492532

NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163

G

poly (ADP-ribose) polymerase family, member 6

ClinVar Annotator: match by term: Tay-Sachs disease

PMID:1833974 PMID:8490625 PMID:28492532

NCBI chr 8:60,016,594...60,049,108
Ensembl chr 8:60,016,877...60,049,108

G

pyruvate kinase M1/2

ClinVar Annotator: match by term: Tay-Sachs disease

PMID:1833974 PMID:8490625 PMID:28492532

NCBI chr 8:60,057,629...60,079,600
Ensembl chr 8:60,057,402...60,079,599

G

REC114 meiotic recombination protein

ClinVar Annotator: match by term: Tay-Sachs disease

PMID:1833974 PMID:8490625 PMID:28492532

NCBI chr 8:59,063,352...59,221,439
Ensembl chr 8:59,063,352...59,149,887

G

SUMO peptidase family member, NEDD8 specific

ClinVar Annotator: match by term: Tay-Sachs disease

PMID:1833974 PMID:8490625 PMID:28492532

NCBI chr 8:60,135,446...60,148,836
Ensembl chr 8:60,121,714...60,148,928

G

senataxin

ClinVar Annotator: match by term: Tay-Sachs disease

PMID:25741868 PMID:28492532

NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803

G

TBC1 domain family, member 21

ClinVar Annotator: match by term: Tay-Sachs disease

PMID:1833974 PMID:8490625 PMID:28492532

NCBI chr 8:58,761,562...58,773,711
Ensembl chr 8:58,761,563...58,773,711

G

transmembrane protein 202

ClinVar Annotator: match by term: Tay-Sachs disease

PMID:1833974 PMID:8490625 PMID:28492532

NCBI chr 8:59,910,824...59,919,342
Ensembl chr 8:59,910,824...59,916,609

Tay-Sachs Disease, Juvenile

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hexosaminidase subunit alpha

ClinVar Annotator: match by term: Tay-sachs disease, juvenile

PMID:1301189 PMID:25741868

NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013

Tay-Sachs Disease, Variant B1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hexosaminidase subunit alpha

ClinVar Annotator: match by term: Tay-Sachs disease, B1 variant

PMID:1302612 PMID:1318511 PMID:1831451 PMID:1832817 PMID:1833974 More...

NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013

Wolman disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon-induced protein with tetratricopeptide repeats 1

ClinVar Annotator: match by term: Wolman disease

NCBI chr 1:232,152,038...232,154,103
Ensembl chr 1:232,127,170...232,154,435

G

interferon-induced protein with tetratricopeptide repeats 2

ClinVar Annotator: match by term: Wolman disease

NCBI chr 1:232,102,570...232,108,638
Ensembl chr 1:232,102,570...232,108,635

G

interferon-induced protein with tetratricopeptide repeats 3

ClinVar Annotator: match by term: Wolman disease

NCBI chr 1:232,114,166...232,119,311
Ensembl chr 1:232,114,166...232,119,307

G

lipase A, lysosomal acid type

ClinVar Annotator: match by term: Wolman disease

ClinVar
MouseDO
OMIM
RGD

PMID:1056246 PMID:2129132 PMID:3118057 PMID:7499245 PMID:7751811 More...

RGD:1600621, RGD:1600620

NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633

G

solute carrier family 16, member 12

ClinVar Annotator: match by term: Wolman disease

NCBI chr 1:232,184,004...232,262,170
Ensembl chr 1:232,185,907...232,262,141

Wolman Disease with Hypolipoproteinemia and Acanthocytosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lipase A, lysosomal acid type

ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis

PMID:7751811 PMID:7759067 PMID:8254026 PMID:8598644 PMID:8617513 More...

NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633

xanthomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563

G

low density lipoprotein receptor

DNA:mutation:exon:478T > A(rat)

RGD

NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580

G

NLR family, pyrin domain containing 3

exacerbates

associated with atherosclerosis

RGD

NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811

G

sterol O-acyltransferase 1

associated with atherosclerosis

RGD

NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494

Term paths to the root

Path 1
Term	Annotations
disease	19055
Nutritional and Metabolic Diseases	8517
disease of metabolism	8517
lipid metabolism disorder	1899
lipid storage disease	852
Cephalin Lipidosis	0
Chanarin-Dorfman syndrome +	22
Familial Cardiac Lipidosis	0
Farber lipogranulomatosis	2
Neurovisceral Storage Disease with Curvilinear Bodies	0
Phospholipidosis	1
Siddiqi syndrome	1
Sjogren-Larsson syndrome +	2
Tremor of Intention, Ataxia, and Lipofuscinosis	0
lysosomal acid lipase deficiency +	10
mucolipidosis +	71
neuronal ceroid lipofuscinosis +	214
sphingolipidosis +	152
steatotic liver disease +	360
xanthomatosis +	58
Path 2
Term	Annotations
disease	19055
Developmental Disease	14527
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	13540
genetic disease	13202
inherited metabolic disorder	6601
lipid metabolism disorder	1899
lipid storage disease	852
Cephalin Lipidosis	0
Chanarin-Dorfman syndrome +	22
Familial Cardiac Lipidosis	0
Farber lipogranulomatosis	2
Neurovisceral Storage Disease with Curvilinear Bodies	0
Phospholipidosis	1
Siddiqi syndrome	1
Sjogren-Larsson syndrome +	2
Tremor of Intention, Ataxia, and Lipofuscinosis	0
lysosomal acid lipase deficiency +	10
mucolipidosis +	71
neuronal ceroid lipofuscinosis +	214
sphingolipidosis +	152
steatotic liver disease +	360
xanthomatosis +	58

paths to the root