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 (858) Mouse (844) Human (23787) Chinchilla (756) Bonobo (802) Dog (832) Squirrel (761) Pig (819) Green Monkey (801) Naked Mole-rat (755) All
Genes (829) Cell Lines (3)

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 chr 6:8,705,294...8,711,285
Ensembl chr 6:8,705,647...8,711,190

G

N-acylsphingosine amidohydrolase 1

CTD Direct Evidence: marker/mechanism

PMID:15342952 PMID:16919414

NCBI chr16:41,297,215...41,335,521
Ensembl chr16:41,297,809...41,323,078

G

asparagine synthetase (glutamine-hydrolyzing)

CTD Direct Evidence: marker/mechanism

NCBI chr14:22,718,020...22,734,109
Ensembl chr14:22,718,042...22,734,054

G

DEPP autophagy regulator 1

CTD Direct Evidence: marker/mechanism

PMID:15342952 PMID:16919414 PMID:17175557

NCBI chr28:2,463,770...2,465,240
Ensembl chr28:2,464,584...2,465,210

G

fatty acid binding protein 1

CTD Direct Evidence: marker/mechanism

PMID:15342952 PMID:16919414

NCBI chr17:38,242,119...38,247,969
Ensembl chr17:38,242,119...38,247,962

G

fatty acid desaturase 2

CTD Direct Evidence: marker/mechanism

NCBI chr18:54,552,105...54,581,553
Ensembl chr18:54,553,366...54,659,654

G

fibronectin type III domain containing 4

CTD Direct Evidence: marker/mechanism

PMID:15342952 PMID:16919414 PMID:17175557

NCBI chr17:21,428,771...21,431,813
Ensembl chr17:21,429,348...21,431,461

G

glycerophosphodiester phosphodiesterase domain containing 3

CTD Direct Evidence: marker/mechanism

PMID:15342952 PMID:16919414 PMID:17175557

NCBI chr 6:18,103,273...18,108,818
Ensembl chr 6:18,103,267...18,108,533

G

hepsin

CTD Direct Evidence: marker/mechanism

PMID:15342952 PMID:16919414

NCBI chr 1:117,486,308...117,503,127
Ensembl chr 1:117,486,340...117,502,583

G

inhibin subunit beta E

CTD Direct Evidence: marker/mechanism

NCBI chr10:1,558,876...1,563,370
Ensembl chr10:1,559,770...1,562,885

G

lanosterol synthase

CTD Direct Evidence: marker/mechanism

PMID:15342952 PMID:16919414

NCBI chr31:39,479,255...39,502,439
Ensembl chr31:39,480,581...39,503,042

G

nuclear receptor subfamily 0 group B member 2

CTD Direct Evidence: marker/mechanism

PMID:15342952 PMID:16919414 PMID:17175557

NCBI chr 2:73,234,482...73,236,548
Ensembl chr 2:73,234,586...73,236,206

G

nuclear protein 1, transcriptional regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 6:18,222,367...18,224,015
Ensembl chr 6:18,222,515...18,224,014

G

peroxisome proliferator activated receptor gamma

CTD Direct Evidence: marker/mechanism

NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981

G

stearoyl-CoA desaturase

CTD Direct Evidence: marker/mechanism

NCBI chr28:13,112,741...13,129,129
Ensembl chr28:13,113,006...13,125,801

G

serpin family A member 3

CTD Direct Evidence: marker/mechanism

PMID:15342952 PMID:16919414 PMID:17175557

NCBI chr 8:63,588,188...63,596,955
Ensembl chr 8:63,587,891...63,596,954

G

solute carrier family 2 member 3

CTD Direct Evidence: marker/mechanism

PMID:15342952 PMID:16919414

NCBI chr27:37,297,932...37,309,604
Ensembl chr27:37,297,932...37,428,410

G

sterol regulatory element binding transcription factor 1

NCBI chr 5:41,663,809...41,686,764
Ensembl chr 5:41,663,773...41,686,776

G

transgelin

CTD Direct Evidence: marker/mechanism

PMID:15342952 PMID:16919414 PMID:17175557

NCBI chr 5:16,390,259...16,395,471
Ensembl chr 5:16,390,573...16,397,207

G

WD repeat domain, phosphoinositide interacting 1

CTD Direct Evidence: marker/mechanism

PMID:15342952 PMID:16919414 PMID:17175557

NCBI chr 9:15,115,098...15,147,893
Ensembl chr 9:15,115,315...15,149,147

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 chr14:17,835,582...18,007,077
Ensembl chr14:17,837,117...18,004,106

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 chr14:17,836,513...17,872,514
Ensembl chr14:17,832,625...17,872,190

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 chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131

G

prosaposin

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

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

NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848

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 chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131

G

prosaposin

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

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

NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848

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 chr37:24,943,660...24,948,589
Ensembl chr37:24,937,081...24,948,529

G

ATP binding cassette subfamily B member 6

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,760,478...25,767,753
Ensembl chr37:25,760,477...25,769,841

G

ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,777,665...25,783,892
Ensembl chr37:25,777,713...25,783,887

G

actin related protein 2/3 complex subunit 2

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:24,914,389...24,935,998
Ensembl chr37:24,914,642...24,935,824

G

acid sensing ion channel subunit family member 4

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:26,024,136...26,048,060
Ensembl chr37:26,024,947...26,048,077

G

autophagy related 9A

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,768,287...25,777,529
Ensembl chr37:25,768,275...25,890,811

G

ciliogenesis associated TTC17 interacting protein

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,010,856...25,024,682
Ensembl chr37:25,021,316...25,024,688

G

cyclin dependent kinase 5 regulatory subunit 2

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,528,934...25,535,795
Ensembl chr37:25,529,151...25,530,263

G

cilia and flagella associated protein 65

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,569,302...25,601,943
Ensembl chr37:25,569,303...25,623,885

G

chondroitin polymerizing factor

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:26,048,236...26,052,871
Ensembl chr37:26,025,993...26,052,806

G

CCR4-NOT transcription complex subunit 9

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,186,928...25,213,255
Ensembl chr37:25,187,066...25,212,642

G

cyclin Pas1/PHO80 domain containing 1

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,729,196...25,734,724
Ensembl chr37:25,729,180...25,737,627

G

crystallin beta A2

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,556,308...25,567,952
Ensembl chr37:25,556,303...25,564,284

G

CTD small phosphatase 1

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,051,839...25,057,506
Ensembl chr37:25,050,267...25,056,113

G

C-X-C motif chemokine receptor 2

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:24,831,351...24,846,387
Ensembl chr37:24,843,171...24,844,247

G

cytochrome P450 family 27 subfamily A member 1

ClinVar Annotator: match by term: Cholestanol storage disease

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

NCBI chr37:25,366,475...25,401,978
Ensembl chr37:25,366,472...25,401,509

G

desmin

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985

G

DnaJ heat shock protein family (Hsp40) member B2

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,826,496...25,834,011
Ensembl chr37:25,827,713...25,833,144

G

aspartyl aminopeptidase

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,898,015...25,917,997
Ensembl chr37:25,863,445...25,918,224

G

FEV transcription factor, ETS family member

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,548,578...25,552,092

G

galactosidase beta 1 like

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,783,837...25,793,968
Ensembl chr37:25,783,816...25,792,589

G

GDP-mannose pyrophosphorylase A

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:26,010,531...26,017,798
Ensembl chr37:26,010,638...26,017,787

G

G protein-coupled bile acid receptor 1

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:24,937,955...24,943,546
Ensembl chr37:24,940,325...24,943,421

G

Indian hedgehog signaling molecule

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,616,942...25,622,989

G

microRNA mir-26b

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,054,488...25,054,543

G

microRNA mir-375

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,568,052...25,568,121
Ensembl chr37:25,568,052...25,568,127

G

non-homologous end joining factor 1

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,637,214...25,719,241
Ensembl chr37:25,637,601...25,715,372

G

obscurin like cytoskeletal adaptor 1

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:26,059,713...26,079,503
Ensembl chr37:26,059,713...26,079,488

G

phospholipase C delta 4

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,221,329...25,244,492
Ensembl chr37:25,226,244...25,244,914

G

PNKD metallo-beta-lactamase domain containing

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:24,948,763...25,008,542
Ensembl chr37:24,948,932...25,005,144

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 chr37:25,405,794...25,414,745
Ensembl chr37:25,406,190...25,414,961

G

protein tyrosine phosphatase receptor type N

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,835,590...25,854,050
Ensembl chr37:25,836,118...25,869,931

G

reticulophagy regulator family member 2

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,734,960...25,740,950
Ensembl chr37:25,734,960...25,739,808

G

ring finger protein 25

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,266,945...25,273,269
Ensembl chr37:25,266,947...25,273,131

G

solute carrier family 11 member 1

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282

G

solute carrier family 23 member 3

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,720,935...25,727,589
Ensembl chr37:25,720,809...25,732,831

G

striated muscle enriched protein kinase

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,947,605...26,005,601
Ensembl chr37:25,947,773...26,005,601

G

serine/threonine kinase 16

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,793,993...25,797,632
Ensembl chr37:25,794,382...25,797,587

G

serine/threonine kinase 36

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,273,237...25,297,794
Ensembl chr37:25,273,110...25,340,512

G

transmembrane BAX inhibitor motif containing 1

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:24,952,145...24,983,477
Ensembl chr37:24,952,902...24,958,137

G

transmembrane protein 198

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:26,053,469...26,059,579
Ensembl chr37:26,052,168...26,058,810

G

tubulin tyrosine ligase like 4

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,303,818...25,341,315
Ensembl chr37:25,273,110...25,340,512

G

tubulin alpha 4a

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,799,075...25,803,257
Ensembl chr37:25,796,107...25,802,892

G

ubiquitin specific peptidase 37

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,090,702...25,186,503
Ensembl chr37:25,090,702...25,186,503

G

villin 1

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,065,887...25,090,238
Ensembl chr37:25,065,180...25,090,705

G

Wnt family member 10A

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,463,064...25,475,407
Ensembl chr37:25,462,748...25,474,764

G

Wnt family member 6

ClinVar Annotator: match by term: Cholestanol storage disease

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

NCBI chr37:25,452,875...25,457,437
Ensembl chr37:25,453,905...25,456,654

G

zinc finger AN1-type containing 2B

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,757,454...25,760,366
Ensembl chr37:25,757,669...25,760,132

G

zinc finger protein 142

ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis

NCBI chr37:25,244,783...25,262,585
Ensembl chr37:25,245,643...25,260,296

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: ABHD5-related condition | ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis

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

NCBI chr23:2,584,813...2,619,204
Ensembl chr23:2,586,678...2,737,583

G

anoctamin 10

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

PMID:11590543 PMID:25741868 PMID:28492532

NCBI chr23:2,678,659...2,900,490
Ensembl chr23:2,678,615...2,902,431

G

cadherin related family member 5

ClinVar Annotator: match by term: Neutral lipid storage myopathy

G

cell cycle exit and neuronal differentiation 1

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr18:25,782,012...25,783,897

G

DEAF1 transcription factor

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr18:25,711,683...25,733,144
Ensembl chr18:25,711,706...25,733,069

G

dopamine receptor D4

ClinVar Annotator: match by term: Neutral lipid storage myopathy

G

EPS8 signaling adaptor L2

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr18:25,741,166...25,755,310
Ensembl chr18:25,733,090...25,755,658

G

glutamine amidotransferase class 1 domain containing 1

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr18:25,766,688...25,777,075

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717

G

interferon regulatory factor 7

ClinVar Annotator: match by term: Neutral lipid storage myopathy

G

lamin tail domain containing 2

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr18:25,663,814...25,669,420
Ensembl chr18:25,663,814...25,668,768

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220

G

PHD and ring finger domains 1

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr18:25,680,015...25,708,834
Ensembl chr18:25,680,342...25,708,502

G

p53-induced death domain protein 1

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr18:45,168,244...45,174,085
Ensembl chr18:45,168,245...45,173,107

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 chr18:45,182,569...45,187,937
Ensembl chr18:45,182,566...45,187,268

G

Ras association domain family member 7

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr18:25,670,074...25,672,644
Ensembl chr18:25,668,457...25,672,651

G

ribosomal protein lateral stalk subunit P2

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr18:45,176,539...45,178,270

G

secretin

ClinVar Annotator: match by term: Neutral lipid storage myopathy

G

solute carrier family 25 member 22

ClinVar Annotator: match by term: Neutral lipid storage myopathy

G

transaldolase 1

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr18:25,764,138...25,772,043

G

transmembrane protein 80

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr18:25,733,400...25,739,682

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 | ClinVar Annotator: match by term: LIPA-related condition

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

NCBI chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436

G

translocator protein

NCBI chr10:22,388,498...22,399,329
Ensembl chr10:22,274,405...22,399,297

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 chr 4:22,779,644...22,876,434
Ensembl chr 4:22,779,781...22,874,215

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 chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131

G

carbohydrate sulfotransferase 3

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

NCBI chr 4:22,668,430...22,699,157
Ensembl chr 4:22,691,336...22,694,254

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

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

NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848

G

SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2

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

NCBI chr 4:22,744,922...22,771,542
Ensembl chr 4:22,748,458...22,771,239

G

V-set immunoregulatory receptor

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

NCBI chr 4:22,504,888...22,530,702
Ensembl chr 4:22,459,363...22,530,687

Congenital Visceral Steatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine kinase

NCBI chr 4:24,540,626...25,047,032
Ensembl chr 4:24,540,659...25,046,464

Fabry disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

treatment

NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358

G

angiotensinogen

severity

DNA:polymorphism:promoter:

NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880

G

androgen receptor

treatment

NCBI chr24:34,713,390...34,731,461
NCBI chr X:51,969,785...52,167,450
Ensembl chr X:51,969,785...52,151,912

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:75,270,952...75,302,663
Ensembl chr X:75,270,979...75,302,562

G

dystrophin related protein 2

ClinVar Annotator: match by term: Fabry disease

PMID:10666480 PMID:12175777 PMID:28492532

NCBI chr X:75,171,816...75,217,777
Ensembl chr X:75,171,507...75,212,782

G

galactosylceramidase

ClinVar Annotator: match by term: Fabry disease

PMID:25741868 PMID:33547378 PMID:37597066

NCBI chr 8:59,266,693...59,324,825
Ensembl chr 8:59,267,818...59,324,967

G

galactosidase alpha

ClinVar Annotator: match by term: Angiokeratoma corporis diffusum | ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease

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

NCBI chr X:75,311,536...75,320,391
Ensembl chr X:75,311,536...75,320,249

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:75,320,505...75,326,651
Ensembl chr X:75,324,481...75,325,830

G

interleukin 1 alpha

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

NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435

G

60S ribosomal protein L36a-like

ClinVar Annotator: match by term: Angiokeratoma corporis diffusum | ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease

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

NCBI chr 4:62,275,030...62,275,422

G

60S ribosomal protein L36a-like

ClinVar Annotator: match by term: Fabry disease

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

NCBI chr17:52,628,292...52,628,713

G

myosin light chain kinase 2

ClinVar Annotator: match by term: Fabry disease

NCBI chr24:21,284,309...21,297,889
Ensembl chr24:21,284,352...21,309,363

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:75,219,448...75,238,309
Ensembl chr X:75,220,248...75,239,041

G

translocase of inner mitochondrial membrane 8A

ClinVar Annotator: match by term: Fabry disease

PMID:10666480 PMID:12175777 PMID:28492532

NCBI chr X:75,267,437...75,270,288
Ensembl chr X:75,267,450...75,270,288

G

vitamin D receptor

susceptibility

DNA:SNPs,haplotype: :

NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470

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:75,311,536...75,320,391
Ensembl chr X:75,311,536...75,320,249

G

60S ribosomal protein L36a-like

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

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

NCBI chr 4:62,275,030...62,275,422

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: ASAH1-related condition | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar Annotator: match by term: Farber's lipogranulomatosis | ClinVar Annotator: match by term: N-Laurylsphingosine deacylase deficiency

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

NCBI chr16:41,297,215...41,335,521
Ensembl chr16:41,297,809...41,323,078

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706

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 chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358

G

elongator acetyltransferase complex subunit 1

ClinVar Annotator: match by term: Gaucher disease

NCBI chr11:64,035,667...64,094,402
Ensembl chr11:64,037,506...64,093,819

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

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

NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864

G

interleukin 4

protein:increased expression:lung

NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534

G

mutS homolog 6

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

NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028

G

pyruvate kinase L/R

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

NCBI chr 7:42,263,899...42,272,770
Ensembl chr 7:42,263,761...42,272,755

G

periaxin

ClinVar Annotator: match by term: Kerasin thesaurismosis

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

NCBI chr 1:113,279,940...113,294,042

G

sphingomyelin phosphodiesterase 1

ClinVar Annotator: match by term: Gaucher disease

PMID:25741868 PMID:28492532

NCBI chr21:29,714,418...29,719,035
Ensembl chr21:29,714,557...29,719,033

G

synuclein alpha

CTD Direct Evidence: marker/mechanism

NCBI chr32:12,915,871...13,079,338
Ensembl chr32:12,916,215...13,060,383

G

tumor necrosis factor

severity

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

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

titin

ClinVar Annotator: match by term: GBA DEFICIENCY

NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826

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

ClinVar Annotator: match by term: Gaucher disease collodion type | ClinVar Annotator: match by term: Gaucher disease perinatal lethal

PMID:1333717 PMID:1348297 PMID:1704891 PMID:1864608 PMID:1897529 More...

NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864

Gaucher's disease type I

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

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

NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864

G

mutS homolog 6

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

NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028

G

thrombospondin 3

ClinVar Annotator: match by term: Gaucher disease type I

NCBI chr 7:42,327,899...42,338,177
Ensembl chr 7:42,328,592...42,338,171

G

titin

ClinVar Annotator: match by term: GD I

NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826

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

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

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

NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864

G

periaxin

ClinVar Annotator: match by term: Acute cerebral Gaucher disease

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

NCBI chr 1:113,279,940...113,294,042

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 3 | 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 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864

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

ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE IIIC | ClinVar Annotator: match by term: Gaucher disease type 3C | ClinVar Annotator: match by term: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

PMID:1333717 PMID:1348297 PMID:1704891 PMID:1864608 PMID:1897529 More...

NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864

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 chr15:40,602,570...40,631,422

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 chr15:40,659,108...40,724,498
Ensembl chr15:40,631,279...40,704,365

G

N-acetylglucosamine-1-phosphate transferase subunit gamma

mucolipidosis IIIC/variant pseudo-hurler polydystrophy

NCBI chr 6:39,405,801...39,418,672
Ensembl chr 6:39,405,809...39,419,392

G

mucolipin TRP cation channel 1

NCBI chr20:52,318,411...52,327,389
Ensembl chr20:52,318,408...52,348,963

G

neuraminidase 1

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

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

NCBI chr12:1,323,659...1,327,989
Ensembl chr12:1,323,877...1,328,520

G

sarcoglycan beta

ClinVar Annotator: match by term: Sialidosis

PMID:9032047 PMID:28492532 PMID:33250842

NCBI chr13:44,969,483...44,987,274
Ensembl chr13:44,972,473...44,987,184

GM1 gangliosidosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: GLB1 deficiency

PMID:11920643 PMID:12097257 PMID:15340362 PMID:16683254 PMID:18489799 More...

NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815

G

galactosidase beta 1

treatment

ClinVar Annotator: match by term: Beta galactosidase 1 deficiency | ClinVar Annotator: match by term: Beta-galactosidase 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
Gangliosidosis, GM1

RGD
ClinVar
OMIA

PMID:824730 PMID:1353343 PMID:1388413 PMID:1487238 PMID:1546746 More...

NCBI chr23:3,721,768...3,814,209
Ensembl chr23:3,732,040...3,814,191

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 chr23:3,733,979...3,735,884

G

wolframin ER transmembrane glycoprotein

ClinVar Annotator: match by term: GLB1 deficiency

PMID:12955714 PMID:17603484 PMID:18060660 PMID:20301750 PMID:20738327 More...

NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827

GM1 gangliosidosis type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA2 DNA repair associated

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

PMID:11920643 PMID:12097257 PMID:15340362 PMID:16683254 PMID:18489799 More...

NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815

G

cadherin 1

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

PMID:25741868 PMID:28492532

NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878

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 chr23:3,721,768...3,814,209
Ensembl chr23:3,732,040...3,814,191

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 chr23:3,733,979...3,735,884

G

wolframin ER transmembrane glycoprotein

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

PMID:12955714 PMID:17603484 PMID:18060660 PMID:20301750 PMID:20738327 More...

NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827

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 chr23:3,721,768...3,814,209
Ensembl chr23:3,732,040...3,814,191

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 chr23:3,733,979...3,735,884

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 chr23:3,721,768...3,814,209
Ensembl chr23:3,732,040...3,814,191

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 chr23:3,733,979...3,735,884

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

NCBI chr 4:58,002,438...58,016,003
Ensembl chr 4:58,003,946...58,015,753

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 chr30:35,836,788...35,862,525

G

synuclein alpha

protein:increased expression:brain

NCBI chr32:12,915,871...13,079,338
Ensembl chr32:12,916,215...13,060,383

G

synuclein beta

protein:increased expression:brain

NCBI chr 4:36,710,236...36,719,455
Ensembl chr 4:36,616,039...36,764,501

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

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

NCBI chr 4:58,002,438...58,016,003
Ensembl chr 4:58,003,946...58,015,753

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 chr30:35,836,788...35,862,525

G

solute carrier family 36 member 2

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

NCBI chr 4:57,933,506...57,959,359
Ensembl chr 4:57,933,453...57,992,587

G

solute carrier family 36 member 3

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

NCBI chr 4:57,963,429...58,013,993
Ensembl chr 4:57,933,453...57,992,587

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 chr30:35,836,788...35,862,525

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 chr30:35,836,788...35,862,525

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:6289314 PMID:6300187 More...

NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440

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 chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131

G

galactosylceramidase

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

OMIM
ClinVar
OMIA

PMID:970445 PMID:1158775 PMID:3362311 PMID:3372337 PMID:3895053 More...

NCBI chr 8:59,266,693...59,324,825
Ensembl chr 8:59,267,818...59,324,967

G

prosaposin

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

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

NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848

G

spermatogenesis associated 7

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

NCBI chr 8:59,658,295...59,697,409
Ensembl chr 8:59,658,365...59,697,318

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

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

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

NCBI chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436

metabolic dysfunction and alcohol associated liver disease

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

NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844

G

adiponectin receptor 2

treatment

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

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

NCBI chr27:43,739,269...43,840,116
Ensembl chr27:43,741,679...43,878,467

G

adrenoceptor alpha 2A

protein:increased expression:liver (human)

NCBI chr28:22,366,989...22,392,163
Ensembl chr28:22,367,780...22,370,684

G

AKT serine/threonine kinase 1

treatment

NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193

G

aldehyde dehydrogenase 2 family member

susceptibility
severity
treatment

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

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

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

NCBI chr26:9,319,109...9,361,021

G

androgen receptor

severity

NCBI chr24:34,713,390...34,731,461
NCBI chr X:51,969,785...52,167,450
Ensembl chr X:51,969,785...52,151,912

G

arrestin beta 2

ameliorates

protein:increased expression:hepatocyte

NCBI chr 5:31,831,208...31,838,875
Ensembl chr 5:31,829,864...31,839,454

G

autophagy related 7

ameliorates
exacerbates

PMID:31235522 PMID:34303881

RGD:407445921 RGD:407445922

NCBI chr20:6,916,354...7,154,849
Ensembl chr20:6,916,515...7,154,800

G

B9 domain containing 2

treatment

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

betaine--homocysteine S-methyltransferase

protein:increased expression:serum,liver

NCBI chr 3:27,732,381...27,752,168
Ensembl chr 3:27,734,108...27,752,046

G

baculoviral IAP repeat containing 3

protein:increased expression:liver (human)

NCBI chr 5:29,324,893...29,343,322
Ensembl chr 5:29,325,331...29,337,240

G

complement C1q C chain

CTD Direct Evidence: marker/mechanism

NCBI chr 2:76,660,039...76,664,602
Ensembl chr 2:76,660,035...76,664,577

G

complement C3

severity
ameliorates

PMID:17321001 PMID:36653797

RGD:408395146 RGD:408418721

NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761

G

carbonic anhydrase 3

mRNA,protein:decreased expression:cytosol,liver

NCBI chr29:31,935,192...31,945,585
Ensembl chr29:31,935,172...31,980,579

G

C-C motif chemokine ligand 2

treatment

PMID:25557254 PMID:30611703

RGD:14995489 RGD:407424594

NCBI chr 9:39,008,187...39,009,932

G

C-C motif chemokine receptor 2

treatment

NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698

G

C-C motif chemokine receptor 5

disease_progression

NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952

G

CD14 molecule

treatment

NCBI chr 2:35,790,505...35,792,967

G

CD36 molecule (CD36 blood group)

NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639

G

CD68 molecule

treatment

PMID:23277536 PMID:29399060

RGD:407424596 RGD:407424599

NCBI chr 5:32,500,899...32,503,355
Ensembl chr 5:32,501,380...32,503,183

G

C-reactive protein

protein:increased expression:serum:

NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166

G

cathepsin B

protein:increased activity:liver, cytosol (rat)

NCBI chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801

G

cytochrome P450 family 2 subfamily E member 1

CTD Direct Evidence: marker/mechanism

PMID:24064383 PMID:25583360 PMID:26428356

RGD:14700870 RGD:14700884

NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754

G

DNA methyltransferase 1

NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029

G

FKBP prolyl isomerase 5

ameliorates

mRNA,protein:incrased expression:liver (human)

NCBI chr12:4,724,668...4,833,691
Ensembl chr12:4,727,497...4,833,323

G

forkhead box O1

protein:increased expression:liver (human)

NCBI chr25:603,433...706,961
Ensembl chr25:603,543...702,825

G

hepcidin antimicrobial peptide

mRNA:decreased expression:liver

NCBI chr 1:117,305,531...117,306,587
Ensembl chr 1:117,305,411...117,306,619

G

KLF transcription factor 5

severity

NCBI chr22:27,163,179...27,185,241
Ensembl chr22:27,162,397...27,200,871

G

lipopolysaccharide binding protein

treatment

NCBI chr24:26,810,369...26,833,515
Ensembl chr24:26,809,843...26,833,434

G

low density lipoprotein receptor

protein:decreased expression: liver (rat)

NCBI chr20:50,115,175...50,152,443
Ensembl chr20:50,048,736...50,152,355

G

microRNA mir-155

NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833

G

NLR family CARD domain containing 5

CTD Direct Evidence: marker/mechanism

NCBI chr 2:59,279,535...59,359,327
Ensembl chr 2:59,280,390...59,338,931

G

nuclear receptor subfamily 1 group H member 3

treatment
severity

PMID:26256083 PMID:36653797

RGD:11522097 RGD:408395146

NCBI chr18:42,333,173...42,346,152
Ensembl chr18:42,333,202...42,341,236

G

occludin

treatment

NCBI chr 2:54,500,299...54,545,430
Ensembl chr 2:54,500,299...54,545,430

G

phosphatidylethanolamine N-methyltransferase

NCBI chr 5:41,871,685...41,960,831
Ensembl chr 5:41,872,108...41,960,828

G

peroxisome proliferator activated receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr10:19,934,020...20,006,096
Ensembl chr10:19,934,165...20,006,146

G

RELA proto-oncogene, NF-kB subunit

treatment

PMID:29399060 PMID:31116255

RGD:407424599 RGD:407424600

NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875

G

renin

severity

NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012

G

serpin family E member 1

mRNA:increased expression:liver (rat)

NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301

G

serpin family F member 1

protein:decreased expression:liver

NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765

G

superoxide dismutase 1

CTD Direct Evidence: marker/mechanism

NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815

G

superoxide dismutase 2

NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706

G

signal transducer and activator of transcription 4

NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894

G

TEA domain transcription factor 1

ameliorates

NCBI chr21:35,667,862...35,935,180
Ensembl chr21:35,566,865...35,934,438

G

tight junction protein 1

treatment

NCBI chr 3:38,997,122...39,076,617
Ensembl chr 3:38,997,076...39,241,574

G

toll like receptor 2

treatment

NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241

G

toll like receptor 4

severity
treatment

PMID:21463341 PMID:23277536 PMID:29884546

RGD:14697697 RGD:14700554 RGD:407424596

NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165

G

tumor necrosis factor

susceptibility
treatment

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

PMID:9214463 PMID:20143470 PMID:29399060

RGD:14995434 RGD:38508901 RGD:407424599

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

ubiquitin D

protein:increased expression:liver (human)

NCBI chr35:26,426,919...26,436,189

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

NCBI chr11:60,761,669...60,869,753
Ensembl chr11:60,761,655...60,890,496

G

acetyl-CoA carboxylase alpha

treatment

NCBI chr 9:36,904,204...37,188,096
Ensembl chr 9:36,905,293...37,187,892

G

alkaline ceramidase 3

disease_progression
treatment

mRNA:increased expression:liver

NCBI chr21:21,711,315...21,863,409
Ensembl chr21:21,714,156...21,863,320

G

actin alpha 2, smooth muscle

mRNA:increased expression:liver (mouse)

NCBI chr26:38,700,434...38,714,915
Ensembl chr26:38,700,480...38,711,753

G

adiponectin receptor 2

treatment
susceptibility

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

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

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

NCBI chr27:43,739,269...43,840,116
Ensembl chr27:43,741,679...43,878,467

G

adrenoceptor alpha 2A

protein:increased expression:liver (human)

NCBI chr28:22,366,989...22,392,163
Ensembl chr28:22,367,780...22,370,684

G

AKT serine/threonine kinase 1

treatment

NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193

G

apolipoprotein A1

treatment

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

PMID:24793484 PMID:30187493

RGD:21408551 RGD:25671434

NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943

G

autophagy related 12

treatment

NCBI chr11:5,531,062...5,543,034
Ensembl chr11:5,531,759...5,542,743

G

autophagy related 5

treatment

NCBI chr12:63,565,859...63,692,383
Ensembl chr12:63,567,568...63,683,485

G

autophagy related 7

treatment

NCBI chr20:6,916,354...7,154,849
Ensembl chr20:6,916,515...7,154,800

G

alpha-2-glycoprotein 1, zinc-binding

treatment

associated with type 2 diabetes mellitus;

NCBI chr 6:9,622,991...9,629,154
Ensembl chr 6:9,622,992...9,629,154

G

baculoviral IAP repeat containing 3

protein:increased expression:liver (human)

NCBI chr 5:29,324,893...29,343,322
Ensembl chr 5:29,325,331...29,337,240

G

BCL2 interacting protein 3 like

treatment

NCBI chr25:31,133,512...31,149,750
Ensembl chr25:31,136,168...31,148,905

G

C-C motif chemokine ligand 2

susceptibility

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

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

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

NCBI chr 9:39,008,187...39,009,932

G

C-C motif chemokine ligand 5

protein:increased expression:serum:

NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852

G

CD68 molecule

disease_progression
severity

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

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

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

NCBI chr 5:32,500,899...32,503,355
Ensembl chr 5:32,501,380...32,503,183

G

claudin 1

mRNA:increased expression:distal colon (rat)

NCBI chr34:22,303,058...22,319,101
Ensembl chr34:22,303,850...22,319,033

G

collagen type I alpha 1 chain

ameliorates
treatment

PMID:28100771 PMID:33315911

RGD:127285675 RGD:407420266

NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927

G

carnitine palmitoyltransferase 1A

treatment

NCBI chr18:49,136,691...49,190,117
Ensembl chr18:49,136,691...49,190,117

G

C-X-C motif chemokine ligand 10

severity

mRNA,protein:increased expression:liver,serum

NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979

G

cytochrome P450 family 27 subfamily A member 1

mRNA:increased expression:liver (human)

NCBI chr37:25,366,475...25,401,978
Ensembl chr37:25,366,472...25,401,509

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

PMID:28774887 PMID:30038487

RGD:15045601 RGD:15092090

NCBI chr29:9,285,315...9,295,895
Ensembl chr29:9,286,181...9,332,310

G

G protein-coupled bile acid receptor 1

treatment

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

NCBI chr37:24,937,955...24,943,546
Ensembl chr37:24,940,325...24,943,421

G

heat shock protein family A (Hsp70) member 5

disease_progression

mRNA,protein:increased expression:liver (rat)

NCBI chr 9:57,850,870...57,855,607
Ensembl chr 9:57,850,922...57,855,257

G

5-hydroxytryptamine receptor 2B

associated with morbid obesity;mRNA:decreased expression:liver

NCBI chr25:43,042,306...43,056,361
Ensembl chr25:43,042,173...43,056,612

G

intercellular adhesion molecule 1

protein:increased expression:blood serum (human)

NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914

G

isocitrate dehydrogenase (NADP(+)) 2

ameliorates

NCBI chr 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496

G

interferon gamma

ameliorates

NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698

G

interleukin 10

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

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 1 beta

ameliorates

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

interleukin 6

ameliorates

DNA:SNP:promoter:-174G>C (human)

PMID:28100771 PMID:28852433

RGD:127285675 RGD:14975143

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

interferon regulatory factor 5

mRNA:increased expression:liver

NCBI chr14:7,724,168...7,734,976
Ensembl chr14:7,724,780...7,742,795

G

Janus kinase 2

ameliorates

NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997

G

keratin 18

severity

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

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

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

NCBI chr27:2,189,269...2,193,368
Ensembl chr27:2,189,269...2,193,368

G

leptin receptor

susceptibility

DNA:SNPs: : (rs1137100, rs1137101) (human)

NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636

G

melanocortin 4 receptor

NCBI chr 1:16,131,829...16,132,827
Ensembl chr 1:16,131,589...16,133,079

G

MCL1 apoptosis regulator, BCL2 family member

NCBI chr17:59,759,605...59,763,111
Ensembl chr17:59,759,605...59,763,111

G

microRNA mir-21

ameliorates

RNA:increased expression:liver

NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624

G

microRNA mir-221

treatment
disease_progression

PMID:22267590 PMID:30316865

RGD:151709001 RGD:18337274

NCBI chr X:39,523,890...39,523,951
Ensembl chr X:39,523,885...39,523,954

G

microRNA mir-222

disease_progression

NCBI chr X:39,524,519...39,524,608
Ensembl chr X:39,524,519...39,524,608

G

microRNA mir-223

treatment

RNA:increased expression:liver:

PMID:30964207 PMID:31585800

RGD:21408547 RGD:21408549

NCBI chr X:50,838,131...50,838,233
Ensembl chr X:50,838,131...50,838,233

G

MLX interacting protein like

treatment

NCBI chr 6:6,617,398...6,652,201
Ensembl chr 6:6,633,231...6,652,198

G

matrix metallopeptidase 13

mRNA:altered expression:liver (mouse)

NCBI chr 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121

G

matrix metallopeptidase 9

mRNA:altered expression:liver (mouse)

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

MYD88 innate immune signal transduction adaptor

treatment

NCBI chr23:7,901,578...7,905,274
Ensembl chr23:7,901,250...7,904,534

G

NFE2 like bZIP transcription factor 2

treatment

NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524

G

nuclear factor kappa B subunit 1

treatment

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

NCBI chr32:23,948,598...24,040,704
Ensembl chr32:23,942,954...24,040,703

G

NADPH oxidase 4

susceptibility

mRNA:increased expression:liver (rat)

NCBI chr21:10,615,153...10,782,927
Ensembl chr21:10,615,970...10,775,277

G

nuclear receptor subfamily 1 group H member 4

treatment

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

PMID:28774887 PMID:30038487

RGD:15045601 RGD:15092090

NCBI chr15:39,497,313...39,608,120
Ensembl chr15:39,536,290...39,608,116

G

phosphoenolpyruvate carboxykinase 1

treatment

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

NCBI chr24:42,538,858...42,544,200
Ensembl chr24:42,538,882...42,544,198

G

platelet derived growth factor receptor beta

treatment

NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283

G

PTEN induced kinase 1

treatment

NCBI chr 2:78,276,091...78,293,761
Ensembl chr 2:78,277,077...78,294,123

G

parkin RBR E3 ubiquitin protein ligase

treatment

NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764

G

receptor interacting serine/threonine kinase 3

mRNA:increased expression:liver (human)

NCBI chr 8:4,304,167...4,309,514
Ensembl chr 8:4,305,250...4,309,325

G

stearoyl-CoA desaturase

treatment

NCBI chr28:13,112,741...13,129,129
Ensembl chr28:13,113,006...13,125,801

G

serpin family F member 1

treatment

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

PMID:26121037 PMID:28365916

RGD:27226700 RGD:27226705

NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765

G

SMAD family member 4

protein:increased expression:liver:

NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405

G

superoxide dismutase 1

susceptibility

mRNA:decreased expression:liver (rat)

NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815

G

superoxide dismutase 2

susceptibility

mRNA:decreased expression:liver (rat)

PMID:20606728 PMID:24649902

RGD:21076282 RGD:26923960

NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706

G

sterol regulatory element binding transcription factor 1

treatment

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

PMID:28458350 PMID:30038487

RGD:15092090 RGD:401799674

NCBI chr 5:41,663,809...41,686,764
Ensembl chr 5:41,663,773...41,686,776

G

TIMP metallopeptidase inhibitor 1

treatment

NCBI chr X:41,201,623...41,205,314
Ensembl chr X:41,201,638...41,205,310

G

toll like receptor 2

NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241

G

toll like receptor 9

disease_progression

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

NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114

G

tumor necrosis factor

susceptibility

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

PMID:20606728 PMID:28100771

RGD:127285675 RGD:21076282

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

thioredoxin interacting protein

NCBI chr17:58,775,588...58,779,730
Ensembl chr17:58,776,871...58,779,531

G

ubiquitin D

protein:increased expression:liver (human)

NCBI chr35:26,426,919...26,436,189

G

unc-51 like autophagy activating kinase 1

treatment

NCBI chr26:968,714...982,244
Ensembl chr26:970,138...982,229

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 1

mRNA:increased expression:liver (rat)

NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727

G

ATP binding cassette subfamily B member 4

CTD Direct Evidence: marker/mechanism

NCBI chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571

G

ATP binding cassette subfamily C member 2

severity

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

PMID:18926681 PMID:29341352

NCBI chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740

G

ATP binding cassette subfamily C member 3

protein:increased expression:liver

NCBI chr 9:26,551,953...26,596,330
Ensembl chr 9:26,551,268...26,595,646

G

ATP binding cassette subfamily G member 5

disease_progression

mRNA:increased expression:liver (rat)

NCBI chr10:46,261,747...46,300,084
Ensembl chr10:46,271,772...46,299,773

G

ATP binding cassette subfamily G member 8

disease_progression

mRNA:decreased expression:liver (rat)

NCBI chr10:46,300,142...46,319,592
Ensembl chr10:46,300,165...46,319,229

G

acetyl-CoA carboxylase alpha

treatment

NCBI chr 9:36,904,204...37,188,096
Ensembl chr 9:36,905,293...37,187,892

G

acetyl-CoA carboxylase beta

treatment

NCBI chr26:17,763,531...17,895,319
Ensembl chr26:17,747,362...17,894,400

G

acyl-CoA dehydrogenase medium chain

treatment

NCBI chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668

G

acyl-CoA dehydrogenase very long chain

treatment

PMID:22569299 PMID:23076603

RGD:10047121 RGD:10047124

NCBI chr 5:32,189,191...32,194,255
Ensembl chr 5:32,186,502...32,327,990

G

angiotensin I converting enzyme

CTD Direct Evidence: marker/mechanism

NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358

G

aconitase 1

protein:increased activity:liver

NCBI chr11:49,699,072...49,758,783
Ensembl chr11:49,699,109...49,923,257

G

actin beta

protein:increased carbonylation:liver

NCBI chr 6:12,421,006...12,424,449
Ensembl chr 6:12,418,932...12,462,845

G

ADAM metallopeptidase with thrombospondin type 1 motif 13

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

NCBI chr 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295

G

alcohol dehydrogenase 4 (class II), pi polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr32:21,282,526...21,299,387
Ensembl chr32:21,282,890...21,299,328

G

adiponectin, C1Q and collagen domain containing

susceptibility
treatment
disease_progression

DNA:SNPs:5'utr, :-11377C>G, +45T>G (rs266729, rs2241766) (human)
associated with Type 1 Diabetes Mellitus; protein:decreased expression:plasma
CTD Direct Evidence: marker/mechanism
mRNA, protein:decreased expression:liver
associated with type 2 diabetes mellitus;DNA:SNP:5' utr:-11377C>G (rs266729) (human)
protein:decreased expression:serum
DNA:hypermethylation
associated with obesity;protein:decreased expression:serum:
associated with Obesity, Morbid;

PMID:15239085 PMID:18713296 PMID:19606393 PMID:20415685 PMID:21255792 More...

RGD:11076260 RGD:14401598 RGD:14401717 RGD:14401719 RGD:5685373 RGD:5686355 RGD:5686660 RGD:5686810 RGD:5686841

NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844

G

adiponectin receptor 2

susceptibility
severity
treatment

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

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

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

NCBI chr27:43,739,269...43,840,116
Ensembl chr27:43,741,679...43,878,467

G

adrenoceptor beta 3

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

NCBI chr16:27,445,601...27,446,796
Ensembl chr16:27,445,601...27,447,521

G

adenosylhomocysteinase

CTD Direct Evidence: marker/mechanism

NCBI chr24:23,410,553...23,423,494
Ensembl chr24:23,411,140...23,419,767

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

PMID:23508103 PMID:29416063

NCBI chr14:31,743,704...31,793,484
Ensembl chr14:31,686,170...31,791,444

G

AKT serine/threonine kinase 1

susceptibility
treatment

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

PMID:30186875 PMID:37525829

RGD:14401598 RGD:407419881

NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193

G

aldehyde dehydrogenase 1 family member A1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:84,940,411...84,994,789
Ensembl chr 1:84,940,411...84,994,789

G

aldehyde dehydrogenase 1 family member B1

CTD Direct Evidence: marker/mechanism

NCBI chr11:54,566,883...54,579,773
Ensembl chr11:54,577,123...54,578,685

G

aldehyde dehydrogenase 1 family member L2

OMIM:613282 | OMIM:613387

NCBI chr10:33,310,523...33,365,677
Ensembl chr10:33,310,558...33,365,228

G

aldehyde dehydrogenase 2 family member

treatment
susceptibility

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

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

RGD:11536476 RGD:15036808 RGD:15042863

NCBI chr26:9,319,109...9,361,021

G

aldehyde dehydrogenase 4 family member A1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:79,688,078...79,712,340
Ensembl chr 2:79,688,086...79,710,540

G

arachidonate 15-lipoxygenase

NCBI chr 5:31,883,544...31,891,357
Ensembl chr 5:31,882,501...32,038,119

G

apolipoprotein A1

treatment

NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943

G

apolipoprotein E

NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440

G

apolipoprotein H

CTD Direct Evidence: marker/mechanism

NCBI chr 9:14,082,648...14,095,186
Ensembl chr 9:14,082,541...14,095,185

G

androgen receptor

ameliorates

NCBI chr24:34,713,390...34,731,461
NCBI chr X:51,969,785...52,167,450
Ensembl chr X:51,969,785...52,151,912

G

autophagy related 7

treatment

ClinVar Annotator: match by term: NAFLD1

PMID:25741868 PMID:31787541 PMID:35405176

NCBI chr20:6,916,354...7,154,849
Ensembl chr20:6,916,515...7,154,800

G

ATP synthase F1 subunit alpha

NCBI chr 7:45,118,188...45,127,048
Ensembl chr 7:45,117,657...45,127,048

G

ATP synthase F1 subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr10:870,405...876,937
Ensembl chr10:870,392...909,161

G

alpha-2-glycoprotein 1, zinc-binding

treatment

NCBI chr 6:9,622,991...9,629,154
Ensembl chr 6:9,622,992...9,629,154

G

beta-1,3-glucuronyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:741,231...747,641
Ensembl chr 5:745,747...748,899

G

B9 domain containing 2

CTD Direct Evidence: marker/mechanism

PMID:21664615 PMID:32613381

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

beclin 1

treatment

NCBI chr 9:20,204,203...20,215,081
Ensembl chr 9:20,204,220...20,214,236

G

complement C1q C chain

CTD Direct Evidence: marker/mechanism

NCBI chr 2:76,660,039...76,664,602
Ensembl chr 2:76,660,035...76,664,577

G

carbonic anhydrase 3

protein:increased expression:liver

NCBI chr29:31,935,192...31,945,585
Ensembl chr29:31,935,172...31,980,579

G

catalase

CTD Direct Evidence: marker/mechanism

NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447

G

C-C motif chemokine ligand 2

severity

protein:increased expression:plasma

PMID:24927058 PMID:25813056

RGD:14995922 RGD:14995928

NCBI chr 9:39,008,187...39,009,932

G

C-C motif chemokine ligand 5

disease_progression
treatment

protein:increased expression:serum:

NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852

G

C-C motif chemokine receptor 2

susceptibility

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

NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698

G

CD14 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 2:35,790,505...35,792,967

G

CD163 molecule

exacerbates

protein:increased expression:blood serum (human)

NCBI chr27:37,669,757...37,700,746
Ensembl chr27:37,669,827...37,753,106

G

CD36 molecule (CD36 blood group)

mRNA:increased expression:liver

PMID:21216282 PMID:24280415

RGD:11041117 RGD:6893543

NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639

G

cordon-bleu WH2 repeat protein like 1

CTD Direct Evidence: marker/mechanism

NCBI chr36:9,885,781...10,045,104
Ensembl chr36:9,886,820...10,083,395

G

collagen type I alpha 1 chain

treatment

PMID:17241878 PMID:23703580

RGD:2308807 RGD:8552713

NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927

G

carnitine palmitoyltransferase 1A

treatment

CTD Direct Evidence: marker/mechanism

PMID:29289645 PMID:31211621

NCBI chr18:49,136,691...49,190,117
Ensembl chr18:49,136,691...49,190,117

G

cAMP responsive element binding protein 1

treatment

NCBI chr37:15,921,214...15,978,492
Ensembl chr37:15,939,138...15,977,556

G

colony stimulating factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959

G

C-X-C motif chemokine ligand 10

treatment

NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979

G

cytochrome P450 family 17 subfamily A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr28:15,292,959...15,298,896
Ensembl chr28:15,293,106...15,298,852

G

cytochrome P450 family 1 subfamily A member 2

CTD Direct Evidence: marker/mechanism

NCBI chr30:37,818,400...37,824,192
Ensembl chr30:37,799,140...37,824,135

G

cytochrome P450 family 27 subfamily B member 1

protein:decreased expression:liver (mouse)

NCBI chr10:1,825,224...1,830,845
Ensembl chr10:1,826,046...1,829,911

G

cytochrome P450 family 2 subfamily E member 1

treatment

CTD Direct Evidence: marker/mechanism

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

RGD:11573192 RGD:14700871 RGD:14700881

NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754

G

diacylglycerol O-acyltransferase 2

treatment

PMID:17618857 PMID:24166662 PMID:26394137

RGD:10400900 RGD:10401056 RGD:329955565

NCBI chr21:22,833,659...22,850,300
Ensembl chr21:22,834,518...22,851,260

G

enoyl-CoA hydratase 1

treatment

NCBI chr 1:114,281,754...114,291,211

G

eukaryotic translation initiation factor 2 alpha kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:11,447,225...11,478,611
Ensembl chr 6:11,447,081...11,478,658

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838

G

coagulation factor II, thrombin

CTD Direct Evidence: marker/mechanism

NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459

G

Fas cell surface death receptor

CTD Direct Evidence: marker/mechanism

NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321

G

fatty acid synthase

treatment

NCBI chr 9:233,105...249,573
Ensembl chr 9:232,963...249,092

G

fibroblast growth factor 21

severity

CTD Direct Evidence: therapeutic

PMID:26797127 PMID:29289645 PMID:32195457

NCBI chr 1:107,571,449...107,576,630
Ensembl chr 1:107,571,446...107,573,281

G

fibroblast growth factor receptor 1

severity

NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261

G

forkhead box O1

treatment

associated with Type 1 Diabetes Mellitus

NCBI chr25:603,433...706,961
Ensembl chr25:603,543...702,825

G

FTO alpha-ketoglutarate dependent dioxygenase

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

PMID:23329013 PMID:35654975

NCBI chr 2:61,699,864...62,080,199
Ensembl chr 2:61,652,236...62,080,059

G

glucose-6-phosphatase catalytic subunit 1

treatment

associated with type 2 diabetes mellitus

PMID:27840945 PMID:30100243

RGD:14695535 RGD:14695545

NCBI chr 9:20,132,973...20,143,642
Ensembl chr 9:20,132,978...20,143,642

G

glucose-6-phosphate dehydrogenase

treatment

NCBI chr X:122,217,317...122,231,862
Ensembl chr X:122,205,683...122,231,678

G

gamma-glutamyltransferase 1

protein:increased expression:serum:

NCBI chr26:28,301,455...28,315,029

G

glycine N-methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr12:11,500,363...11,503,075
Ensembl chr12:11,500,392...11,503,481

G

glycerol-3-phosphate acyltransferase, mitochondrial

treatment

NCBI chr28:23,261,673...23,323,985
Ensembl chr28:23,258,428...23,298,017

G

glutamic--pyruvic transaminase

severity

protein:increased activity:plasma
CTD Direct Evidence: marker/mechanism
protein:increased expression:liver,serum

PMID:18710424 PMID:22922605 PMID:24768200 PMID:35654975

RGD:14975160 RGD:14975250 RGD:14975251

NCBI chr13:37,923,757...37,927,843
Ensembl chr13:37,924,422...37,926,156

G

glutamic--pyruvic transaminase 2

protein:increased expression:liver,serum
protein:increased activity:plasma

PMID:18710424 PMID:22922605

RGD:14975250 RGD:14975251

NCBI chr15:8,238,295...8,250,789

G

glutathione peroxidase 1

treatment

NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260

G

glutathione-disulfide reductase

treatment

NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752

G

glutathione S-transferase pi 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182

G

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha

protein:decreased expression:liver

NCBI chr17:20,307,207...20,355,659
Ensembl chr17:20,307,226...20,355,508

G

hepcidin antimicrobial peptide

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

PMID:28051796 PMID:29871592

RGD:15042878 RGD:15042880

NCBI chr 1:117,305,531...117,306,587
Ensembl chr 1:117,305,411...117,306,619

G

homeostatic iron regulator

DNA:missense mutation:CDS:p.H63D
DNA:missense mutation:cds:p.C282Y (human)

PMID:9453491 PMID:11473047

RGD:1601452 RGD:8694420

NCBI chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413

G

3-hydroxy-3-methylglutaryl-CoA reductase

disease_progression

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

PMID:19913842 PMID:23117815

RGD:15045604 RGD:5508690

NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294

G

5-hydroxytryptamine receptor 2A

treatment

associated with morbid obesity;mRNA:decreased expression:liver

PMID:33081272 PMID:35732081

RGD:401900305 RGD:401900606

NCBI chr22:4,453,715...4,510,934
Ensembl chr22:4,453,715...4,511,037

G

5-hydroxytryptamine receptor 2B

associated with morbid obesity;mRNA:decreased expression:liver

NCBI chr25:43,042,306...43,056,361
Ensembl chr25:43,042,173...43,056,612

G

insulin degrading enzyme

NCBI chr28:6,844,480...6,967,713
Ensembl chr28:6,844,055...6,967,713

G

isocitrate dehydrogenase (NADP(+)) 2

susceptibility
severity

PMID:29861476 PMID:31064654

RGD:14985251 RGD:14985252

NCBI chr 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496

G

IFI30 lysosomal thiol reductase

CTD Direct Evidence: marker/mechanism

NCBI chr20:44,819,862...44,823,261
Ensembl chr20:44,819,893...44,823,342

G

insulin like growth factor 1

susceptibility

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

NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794

G

insulin like growth factor 1 receptor

susceptibility

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

NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387

G

insulin like growth factor binding protein 7

treatment
disease_progression

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

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

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

NCBI chr13:49,138,406...49,207,235
Ensembl chr13:49,138,402...49,207,394

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

CTD Direct Evidence: marker/mechanism

NCBI chr X:122,232,052...122,253,499
Ensembl chr X:122,235,878...122,250,562

G

interleukin 10

severity

associated with morbid obesity

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 13

protein:increased expression:serum

NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388

G

interleukin 18

treatment
severity

protein:increased expression:plasma

PMID:20422882 PMID:24006666 PMID:28660148

RGD:14696664 RGD:14696674 RGD:8655964

NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435

G

interleukin 1 beta

no_association

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

PMID:27730688 PMID:32613381

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

interleukin 1 receptor antagonist

severity

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

PMID:22027586 PMID:35654975

NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329

G

interleukin 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:20,330,480...20,332,668
Ensembl chr11:20,330,480...20,332,668

G

interleukin 4

CTD Direct Evidence: marker/mechanism

NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534

G

interleukin 6

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

PMID:18510618 PMID:27730688

RGD:14975293 RGD:7829808

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

insulin

CTD Direct Evidence: marker/mechanism

NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122

G

insulin receptor

treatment
susceptibility

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

PMID:28468951 PMID:29325294

RGD:14700929 RGD:14700932

NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046

G

insulin receptor substrate 1

NCBI chr25:39,624,554...39,687,991

G

insulin receptor substrate 2

NCBI chr22:58,197,016...58,229,026
Ensembl chr22:58,223,387...58,227,535

G

Janus kinase 2

CTD Direct Evidence: marker/mechanism

PMID:18782535 PMID:28100771

NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997

G

klotho beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:72,996,725...73,033,566
Ensembl chr 3:72,998,816...73,033,651

G

keratin 18

disease_progression

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