peripheral vascular 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:	peripheral vascular disease	go back to main search page
Accession:	DOID:341	browse the term
Definition:	A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain. (DO)
Synonyms:	exact_synonym:	peripheral angiopathies; peripheral angiopathy; peripheral vascular diseases
	primary_id:	MESH:D016491
	xref:	EFO:0003875; ICD9CM:443.81
For additional species annotation, visit the Alliance of Genome Resources.

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Rat (391) Mouse (390) Human (18527) Chinchilla (343) Bonobo (372) Dog (374) Squirrel (350) Pig (365) Green Monkey (365) Naked Mole-rat (343) All
Genes (343)

peripheral vascular disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenomedullin

protein:increased expression:plasma

NCBI chrNW_004955414:25,951,473...25,953,593
Ensembl chrNW_004955414:25,951,349...25,953,645

G

apolipoprotein H

NCBI chrNW_004955478:5,612,258...5,626,061
Ensembl chrNW_004955478:5,610,164...5,626,020

G

bone morphogenetic protein receptor type 2

NCBI chrNW_004955457:12,235,780...12,315,680
Ensembl chrNW_004955457:12,235,780...12,316,727

G

cystatin C

protein:increased expression:serum (human)

NCBI chrNW_004955415:30,507,972...30,512,109

G

DAB2 interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955419:6,229,437...6,416,619
Ensembl chrNW_004955419:6,228,591...6,416,402

G

Fas cell surface death receptor

associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma

NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455

G

homeostatic iron regulator

no_association

NCBI chrNW_004955483:933,269...941,070
Ensembl chrNW_004955483:932,352...941,143

G

interleukin 6

associated with Metabolic Syndrome X; protein:increased expression:extracellular space (human)

NCBI chrNW_004955410:25,079,835...25,084,390

G

lipase C, hepatic type

associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:transition:promoter:-250G>A (human)

NCBI chrNW_004955450:15,947,869...16,062,449
Ensembl chrNW_004955450:15,948,187...16,048,766

G

cytochrome P450 1A1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488

G

mannose binding lectin 2

susceptibility

associated with Mucocutaneous Lymph Node Syndrome; DNA:mutations:5' utr, exon:g.-221G>C, p.G54N (human)

NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006

G

myostatin

NCBI chrNW_004955403:8,914,505...8,921,190
Ensembl chrNW_004955403:8,914,482...8,923,465

G

selectin L

NCBI chrNW_004955462:7,591,997...7,611,408
Ensembl chrNW_004955462:7,591,366...7,612,846

G

TNF receptor superfamily member 11b

severity

protein:increased expression:plasma

NCBI chrNW_004955417:24,804,708...24,831,338
Ensembl chrNW_004955417:24,804,664...24,831,894

ataxia telangiectasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:8,723,828...8,747,684
Ensembl chrNW_004955412:8,723,828...8,748,701

G

acetyl-CoA acetyltransferase 1

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806

G

adenosine deaminase 2

ClinVar Annotator: match by term: Ataxia-telangiectasia

PMID:25741868 PMID:27884168 PMID:28492532

NCBI chrNW_004955454:5,341,822...5,355,383

G

ALG9 alpha-1,2-mannosyltransferase

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:13,510,714...13,599,216
Ensembl chrNW_004955412:13,514,342...13,598,909

G

alkB homolog 8, tRNA methyltransferase

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:9,875,905...9,923,728

G

angiomotin like 1

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955605:113,570...275,921
Ensembl chrNW_004955605:113,570...245,932

G

angiopoietin like 5

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:5,236,268...5,254,866

G

Rho GTPase activating protein 20

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:12,433,350...12,515,922
Ensembl chrNW_004955412:12,430,064...12,515,925

G

Rho GTPase activating protein 42

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:4,367,369...4,601,653
Ensembl chrNW_004955412:4,367,369...4,594,888

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency
ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome

PMID:100011 PMID:133608 PMID:581456 PMID:622825 PMID:623656 More...

NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545

G

BCL2 antagonist/killer 1

DNA:mutation:exon:c.342C>T(human)

NCBI chrNW_004955437:2,036,415...2,041,997
Ensembl chrNW_004955437:2,036,415...2,041,997

G

BCL2 associated X, apoptosis regulator

susceptibility

DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human)

NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244

G

BCL2 interacting killer

susceptibility

DNA:deletion:intron:IVS4-12delTC(human)

NCBI chrNW_004955413:28,277,727...28,294,032

G

baculoviral IAP repeat containing 2

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:5,658,322...5,685,628
Ensembl chrNW_004955412:5,659,478...5,685,114

G

baculoviral IAP repeat containing 3

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:5,624,865...5,643,520
Ensembl chrNW_004955412:5,628,973...5,643,410

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:16439621 PMID:16474404 PMID:18039235 PMID:18413255 PMID:18953432 More...

NCBI chrNW_004955494:2,567,238...2,712,708

G

BTG anti-proliferation factor 4

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:13,137,273...13,250,261
Ensembl chrNW_004955412:13,183,524...13,247,882

G

coiled-coil domain containing 82

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:1,178,695...1,208,883
Ensembl chrNW_004955412:1,174,945...1,205,326

G

centrosomal protein 126

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:5,262,018...5,319,275
Ensembl chrNW_004955412:5,262,018...5,318,665

G

centrosomal protein 57

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:638,718...693,837

G

cilia and flagella associated protein 300

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:5,368,983...5,399,406
Ensembl chrNW_004955412:5,368,495...5,400,305

G

cilia and flagella associated protein 68

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:13,605,526...13,609,865
Ensembl chrNW_004955412:13,605,819...13,612,070

G

contactin 5

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:3,105,095...4,122,484
Ensembl chrNW_004955412:3,436,462...4,123,202

G

crystallin alpha B

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:13,626,018...13,629,495
Ensembl chrNW_004955412:13,625,363...13,640,426

G

cullin 5

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:10,266,072...10,336,156
Ensembl chrNW_004955412:10,256,381...10,336,156

G

chromosome unknown C11orf52 homolog

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:13,635,088...13,640,604
Ensembl chrNW_004955412:13,634,794...13,640,962

G

chromosome unknown C11orf65 homolog

ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome

PMID:100011 PMID:581456 PMID:622825 PMID:988733 PMID:1065243 More...

NCBI chrNW_004955412:10,533,174...10,567,364
Ensembl chrNW_004955412:10,533,441...10,567,612

G

chromosome unknown C11orf87 homolog

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:11,447,935...11,455,153
Ensembl chrNW_004955412:11,448,134...11,455,153

G

CWC15 spliceosome associated protein homolog

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955605:32,721...42,981
Ensembl chrNW_004955605:32,721...46,182

G

CWF19 like cell cycle control factor 2

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:9,758,751...9,861,019
Ensembl chrNW_004955412:9,766,910...9,861,027

G

defective in cullin neddylation 1 domain containing 5

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:6,185,858...6,217,935
Ensembl chrNW_004955412:6,185,858...6,217,935

G

DNA damage inducible 1 homolog 1

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:6,980,778...6,982,453
Ensembl chrNW_004955412:6,981,036...6,982,346

G

DEAD-box helicase 10

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:10,747,642...11,008,039
Ensembl chrNW_004955412:10,747,464...11,008,168

G

DIX domain containing 1

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:13,640,693...13,713,926
Ensembl chrNW_004955412:13,642,078...13,711,850

G

dihydrolipoamide S-acetyltransferase

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:13,718,091...13,746,220
Ensembl chrNW_004955412:13,718,067...13,744,239

G

dynein cytoplasmic 2 heavy chain 1

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:6,267,726...6,518,888
Ensembl chrNW_004955412:6,268,214...6,518,468

G

ELMO domain containing 1

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:9,975,110...10,013,932
Ensembl chrNW_004955412:9,948,157...10,013,932

G

endonuclease domain containing 1

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:61,280...65,352

G

exophilin 5

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:10,604,853...10,674,683
Ensembl chrNW_004955412:10,604,772...10,674,749

G

family with sequence similarity 76 member B

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:617,089...664,452
Ensembl chrNW_004955412:644,379...665,017

G

ferredoxin 1

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:12,280,900...12,312,930
Ensembl chrNW_004955412:12,286,408...12,316,707

G

ferredoxin-fold anticodon binding domain containing 1

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:13,601,032...13,605,418
Ensembl chrNW_004955412:13,598,231...13,605,395

G

fucosyltransferase 4

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955605:397,721...398,470

G

glutamate ionotropic receptor AMPA type subunit 4

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:8,306,187...8,644,156
Ensembl chrNW_004955412:8,307,091...8,644,598

G

guanylate cyclase 1 soluble subunit alpha 2

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:9,218,029...9,480,333
Ensembl chrNW_004955412:9,225,305...9,480,206

G

histone deacetylase 4

treatment

protein:altered localization:nucleus:

NCBI chrNW_004955542:1,629,691...1,886,160
Ensembl chrNW_004955542:1,629,691...1,886,210

G

HOATZ cilia and flagella associated protein

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:13,254,671...13,275,832
Ensembl chrNW_004955412:13,258,703...13,275,876

G

heat shock protein family B (small) member 2

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:13,628,098...13,631,575
Ensembl chrNW_004955412:13,628,098...13,631,727

G

interferon gamma

NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045

G

interleukin 2

NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265

G

interleukin 6

severity

NCBI chrNW_004955410:25,079,835...25,084,390

G

JRK like

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:1,209,524...1,212,911
Ensembl chrNW_004955412:1,209,788...1,211,362

G

kelch repeat and BTB domain containing 3

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:8,703,075...8,723,628
Ensembl chrNW_004955412:8,703,075...8,713,929

G

lysine demethylase 4D

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955605:7,585...32,650
Ensembl chrNW_004955605:8,977...10,539

G

layilin

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:13,282,871...13,298,214
Ensembl chrNW_004955412:13,280,327...13,297,833

G

mastermind like transcriptional coactivator 2

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:849,367...1,038,341
Ensembl chrNW_004955412:847,977...952,259

G

matrix metallopeptidase 10

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:5,965,388...5,976,353
Ensembl chrNW_004955412:5,965,394...5,976,382

G

matrix metallopeptidase 12

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:6,045,146...6,057,112
Ensembl chrNW_004955412:6,045,100...6,057,262

G

matrix metallopeptidase 13

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:6,106,994...6,118,760
Ensembl chrNW_004955412:6,106,994...6,118,760

G

matrix metallopeptidase 20

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:5,815,450...5,869,016
Ensembl chrNW_004955412:5,815,450...5,869,016

G

matrix metallopeptidase 27

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:5,912,877...5,922,463
Ensembl chrNW_004955412:5,912,877...5,922,463

G

matrix metallopeptidase 7

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:5,780,772...5,792,485
Ensembl chrNW_004955412:5,778,502...5,792,445

G

matrix metallopeptidase 8

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:5,928,997...5,939,012
Ensembl chrNW_004955412:5,928,997...5,939,012

G

Myb/SANT DNA binding domain containing 4 with coiled-coils

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:8,654,182...8,666,254
Ensembl chrNW_004955412:8,652,193...8,666,347

G

myotubularin related protein 2

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:693,743...764,377
Ensembl chrNW_004955412:693,743...750,154

G

NKAP domain containing 1

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:13,755,704...13,765,047
Ensembl chrNW_004955412:13,755,817...13,765,047

G

nuclear protein, ataxia-telangiectasia locus

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532 PMID:31671381

NCBI chrNW_004955412:10,377,814...10,422,753
Ensembl chrNW_004955412:10,379,132...10,422,497

G

platelet derived growth factor D

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:6,868,995...7,093,353
Ensembl chrNW_004955412:6,866,869...7,093,998

G

progesterone receptor

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:4,643,839...4,693,478

G

PIH1 domain containing 2

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:13,748,120...13,755,498
Ensembl chrNW_004955412:13,748,325...13,754,130

G

piwi like RNA-mediated gene silencing 4

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955605:331,633...398,528

G

protein O-glucosyltransferase 3

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:10,582,169...10,598,153
Ensembl chrNW_004955412:10,579,511...10,598,153

G

POU class 2 homeobox associating factor 1

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:13,131,229...13,167,150
Ensembl chrNW_004955412:13,131,168...13,156,128

G

POU class 2 homeobox associating factor 2

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:13,076,854...13,079,095

G

POU class 2 homeobox associating factor 3

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:13,090,206...13,098,642
Ensembl chrNW_004955412:13,090,206...13,098,826

G

protein phosphatase 2 scaffold subunit Abeta

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:13,458,078...13,494,583
Ensembl chrNW_004955412:13,458,136...13,494,585

G

RAB39A, member RAS oncogene family

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:10,224,074...10,240,270
Ensembl chrNW_004955412:10,224,074...10,240,270

G

radixin

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:12,100,436...12,184,444
Ensembl chrNW_004955412:12,100,359...12,172,545

G

succinate dehydrogenase complex subunit D

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:13,768,501...13,778,944
Ensembl chrNW_004955412:13,768,501...13,778,932

G

sestrin 3

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:100,335...125,395
Ensembl chrNW_004955412:107,861...125,944

G

salt inducible kinase 2

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:13,342,032...13,458,076
Ensembl chrNW_004955412:13,342,032...13,457,563

G

solute carrier family 35 member F2

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:10,111,134...10,156,575
Ensembl chrNW_004955412:10,110,692...10,156,575

G

sarcolipin

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:10,057,481...10,062,178

G

translocase of inner mitochondrial membrane 8 homolog B

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:13,766,532...13,768,453
Ensembl chrNW_004955412:13,766,532...13,768,453

G

transmembrane protein 123

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:5,690,988...5,741,109

G

transient receptor potential cation channel subfamily C member 6

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:4,905,039...5,019,678
Ensembl chrNW_004955412:4,906,650...4,950,525

G

Yes1 associated transcriptional regulator

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:5,423,866...5,533,728
Ensembl chrNW_004955412:5,423,855...5,534,408

G

zinc finger CCCH-type containing 12C

ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome

PMID:23807571 PMID:25614872 PMID:28492532

NCBI chrNW_004955412:12,015,252...12,086,331
Ensembl chrNW_004955412:12,020,201...12,086,331

Ataxia Telangiectasia Like Disorder

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

proliferating cell nuclear antigen

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955415:15,744,601...15,748,910
Ensembl chrNW_004955415:15,744,601...15,749,673

ataxia with oculomotor apraxia type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphoinositide-3-kinase regulatory subunit 5

ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3

PMID:22065524 PMID:25741868 PMID:28492532 PMID:33116287

NCBI chrNW_004955467:8,025,231...8,091,406
Ensembl chrNW_004955467:8,065,857...8,091,486

ataxia-oculomotor apraxia type 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

polynucleotide kinase 3'-phosphatase

ClinVar Annotator: match by term: Ataxia - oculomotor apraxia type 4 | ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4

PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:17576681 More...

NCBI chrNW_004955559:1,064,924...1,070,120

Ataxia-Telangiectasia Variant

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Ataxia - telangiectasia variant

PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More...

NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545

G

chromosome unknown C11orf65 homolog

ClinVar Annotator: match by term: Ataxia - telangiectasia variant

PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More...

NCBI chrNW_004955412:10,533,174...10,567,364
Ensembl chrNW_004955412:10,533,441...10,567,612

ataxia-telangiectasia-like disorder-2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

proliferating cell nuclear antigen

ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2

PMID:24911150 PMID:25741868

NCBI chrNW_004955415:15,744,601...15,748,910
Ensembl chrNW_004955415:15,744,601...15,749,673

background diabetic retinopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

catalase

associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum:

NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464

G

fms related receptor tyrosine kinase 1

protein:decreased expression:aqueous humor:

NCBI chrNW_004955497:7,653,309...7,831,737
Ensembl chrNW_004955497:7,653,248...7,831,472

G

alpha-2-macroglobulin

treatment

NCBI chrNW_004955413:6,019,457...6,062,366
Ensembl chrNW_004955413:6,019,082...6,062,529

G

mitogen-activated protein kinase kinase kinase 8

protein:increased activity:serum:

NCBI chrNW_004955429:21,717,153...21,739,349
Ensembl chrNW_004955429:21,716,958...21,741,585

G

platelet derived growth factor subunit B

protein:decreased expression:vitreous:

NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987

central retinal vein occlusion

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein C, inactivator of coagulation factors Va and VIIIa

treatment

NCBI chrNW_004955459:3,097,229...3,105,566
Ensembl chrNW_004955459:3,094,120...3,104,135

G

serpin family F member 1

protein:increased expression:neuroretina (rat)

NCBI chrNW_004955481:1,414,930...1,426,436
Ensembl chrNW_004955481:1,414,930...1,426,241

Cerebroretinal Microangiopathy with Calcifications and Cysts

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CST telomere replication complex component 1

ClinVar Annotator: match by term: Coats plus syndrome

PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More...

NCBI chrNW_004955467:8,673,069...8,700,730
Ensembl chrNW_004955467:8,673,128...8,702,165

G

STN1 subunit of CST complex

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955485:6,748,682...6,784,119
Ensembl chrNW_004955485:6,748,234...6,784,762

Cerebroretinal Microangiopathy with Calcifications and Cysts 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CST telomere replication complex component 1

ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1

PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 More...

NCBI chrNW_004955467:8,673,069...8,700,730
Ensembl chrNW_004955467:8,673,128...8,702,165

G

phosphoribosylformylglycinamidine synthase

ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1

PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More...

NCBI chrNW_004955467:8,640,044...8,660,950
Ensembl chrNW_004955467:8,640,044...8,660,979

Cerebroretinal Microangiopathy with Calcifications and Cysts 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

STN1 subunit of CST complex

ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2

PMID:25741868 PMID:27432940 PMID:28492532

NCBI chrNW_004955485:6,748,682...6,784,119
Ensembl chrNW_004955485:6,748,234...6,784,762

Cerebroretinal Microangiopathy with Calcifications and Cysts 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protection of telomeres 1

ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3

PMID:27013236 PMID:28492532

NCBI chrNW_004955479:6,140,599...6,230,512
Ensembl chrNW_004955479:6,140,501...6,209,031

Cleft Palate, Proliferative Retinopathy, and Developmental Delay

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucine rich repeat containing 32

ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay

PMID:25741868 PMID:30976112

NCBI chrNW_004955414:15,296,704...15,309,088
Ensembl chrNW_004955414:15,296,563...15,309,088

Coats disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

frizzled class receptor 4

ClinVar Annotator: match by term: Coats disease

PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More...

NCBI chrNW_004955414:6,094,585...6,103,910
Ensembl chrNW_004955414:6,094,585...6,098,865

G

norrin cystine knot growth factor NDP

ClinVar Annotator: match by term: Exudative retinopathy

NCBI chrNW_004955516:4,218,703...4,244,774
Ensembl chrNW_004955516:4,218,703...4,244,846

G

protocadherin 12

ClinVar Annotator: match by term: Exudative retinopathy

PMID:25741868 PMID:30459466

NCBI chrNW_004955415:11,834,007...11,848,032

G

serine protease 23

ClinVar Annotator: match by term: Coats disease

PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More...

NCBI chrNW_004955414:6,202,383...6,213,521
Ensembl chrNW_004955414:6,202,383...6,213,521

G

RCC1 and BTB domain containing protein 1

ClinVar Annotator: match by term: Coats disease | ClinVar Annotator: match by term: Exudative retinopathy

PMID:25741868 PMID:26908610 PMID:28492532 PMID:31494449

NCBI chrNW_004955431:2,976,283...3,080,665
Ensembl chrNW_004955431:2,976,283...3,080,405

G

rhodopsin

ClinVar Annotator: match by term: Exudative retinopathy

PMID:7987331 PMID:9380676 PMID:10967073 PMID:25741868 PMID:28492532 More...

NCBI chrNW_004955429:17,787,337...17,791,982
Ensembl chrNW_004955429:17,787,337...17,791,982

G

ring finger protein 14

ClinVar Annotator: match by term: Exudative retinopathy

PMID:25741868 PMID:30459466

NCBI chrNW_004955415:11,797,287...11,826,936
Ensembl chrNW_004955415:11,795,031...11,823,577

CREST syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centromere protein C

associated with Anticentromere antibody positivity

NCBI chrNW_004955447:5,345,617...5,406,889
Ensembl chrNW_004955447:5,345,896...5,406,730

G

fibrillin 1

NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761

Cutaneous Telangiectasia and Cancer Syndrome, Familial

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATR serine/threonine kinase

ClinVar Annotator: match by term: Cutaneous telangiectasia and cancer syndrome, familial

PMID:9536098 PMID:15987455 PMID:17010193 PMID:17576681 PMID:18414213 More...

NCBI chrNW_004955508:3,337,036...3,440,313
Ensembl chrNW_004955508:3,337,432...3,440,257

diabetic angiopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenylate cyclase 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955469:6,933,208...7,026,179
Ensembl chrNW_004955469:6,929,092...7,026,758

G

adenylate cyclase 8

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955461:5,497,708...5,725,574
Ensembl chrNW_004955461:5,497,628...5,725,574

G

advanced glycosylation end-product specific receptor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479

G

albumin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955447:9,327...21,212

G

argininosuccinate synthase 1

CTD Direct Evidence: therapeutic

NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190

G

bradykinin receptor B1

NCBI chrNW_004955438:16,500,219...16,505,394
Ensembl chrNW_004955438:16,500,633...16,501,691

G

caspase 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955403:24,315,712...24,326,271

G

CD28 molecule

associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:T cell

NCBI chrNW_004955457:11,159,769...11,253,099
Ensembl chrNW_004955457:11,162,282...11,192,991

G

CD40 ligand

protein:increased expression:serum

NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746

G

cAMP responsive element modulator

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955462:2,491,504...2,547,587
Ensembl chrNW_004955462:2,491,504...2,536,385

G

C-X-C motif chemokine ligand 12

susceptibility

associated with Diabetic Foot;DNA:polymorphism:3' utr (human)

NCBI chrNW_004955546:1,929,269...1,941,690
Ensembl chrNW_004955546:1,929,269...1,941,690

G

erythropoietin

ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 2

NCBI chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355

G

coagulation factor III, tissue factor

protein:increased expression:plasma
associated with Diabetes Mellitus, Non-Insulin-Dependent

PMID:9285207 PMID:16371118

RGD:2313861 RGD:2313868

NCBI chrNW_004955423:254,060...264,448
Ensembl chrNW_004955423:254,189...264,159

G

Fas cell surface death receptor

associated with Diabetes Mellitus, Non-Insulin-Dependent

NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455

G

Fas ligand

CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Non-Insulin-Dependent

PMID:15803113 PMID:25381014

NCBI chrNW_004955406:13,098,479...13,107,045
Ensembl chrNW_004955406:13,098,662...13,107,389

G

fibronectin 1

NCBI chrNW_004955457:629,599...694,948
Ensembl chrNW_004955457:629,518...696,975

G

GTP cyclohydrolase 1

associated with type 2 diabetes mellitus;DNA:SNV: :C59038T (human)

NCBI chrNW_004955409:8,624,225...8,670,436
Ensembl chrNW_004955409:8,624,468...8,668,614

G

glycoprotein Ib platelet subunit alpha

NCBI chrNW_004955467:10,333,537...10,347,488
Ensembl chrNW_004955467:10,333,575...10,346,989

G

glutathione peroxidase 1

cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood

NCBI chrNW_004955532:1,298,336...1,298,830

G

glutathione-disulfide reductase

cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood

NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583

G

homeostatic iron regulator

ClinVar Annotator: match by term: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 | ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 7

PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More...

NCBI chrNW_004955483:933,269...941,070
Ensembl chrNW_004955483:932,352...941,143

G

heme oxygenase 1

CTD Direct Evidence: therapeutic

NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979

G

intercellular adhesion molecule 1

associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:aorta

PMID:18093596 PMID:18796303

RGD:2306988 RGD:2313473

NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755

G

insulin like growth factor binding protein 1

DNA:SNPs

NCBI chrNW_004955456:6,810,461...6,814,944
Ensembl chrNW_004955456:6,810,056...6,815,685

G

interleukin 1 receptor antagonist

ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 4

PMID:25741868 PMID:28492532

NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471

G

integrin subunit alpha M

protein:increased expression:neutrophil (human)

NCBI chrNW_004955493:8,116,886...8,160,806
Ensembl chrNW_004955493:8,116,834...8,260,759

G

matrix metallopeptidase 14

NCBI chrNW_004955409:37,438,924...37,448,704
Ensembl chrNW_004955409:37,440,541...37,448,437

G

methylenetetrahydrofolate reductase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240

G

nitric oxide synthase 2

associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea

PMID:19241604 PMID:19587355

RGD:2313210 RGD:4891384

NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961

G

nitric oxide synthase 3

treatment

associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea
CTD Direct Evidence: marker/mechanism

PMID:12124201 PMID:19241604 PMID:29329611

RGD:13504708 RGD:4891384

NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814

G

platelet and endothelial cell adhesion molecule 1

associated with Diabetes Mellitus, Experimental;protein:increased tyrosine phosphorylation:conceptus

NCBI chrNW_004955478:7,448,584...7,531,860
Ensembl chrNW_004955478:7,478,492...7,531,188

G

plasminogen activator, tissue type

associated with Diabetes Mellitus, Non-Insulin-Dependent

NCBI chrNW_004955536:730,962...754,333
Ensembl chrNW_004955536:730,981...756,394

G

RNA polymerase I and III subunit C

ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 1

NCBI chrNW_004955437:9,346,397...9,350,591
Ensembl chrNW_004955437:9,346,397...9,350,591

G

paraoxonase 1

ClinVar Annotator: match by term: RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO

PMID:9011577 PMID:9661650 PMID:11335891 PMID:11788650 PMID:11889198 More...

NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339

G

protein tyrosine kinase 2 beta

treatment

associated with Diabetes Mellitus, Type 2

NCBI chrNW_004955403:49,856,056...49,970,800
Ensembl chrNW_004955403:49,855,541...49,973,225

G

retinol binding protein 4

disease_progression

protein:increased expression:blood serum (human)

NCBI chrNW_004955507:112,342...120,050
Ensembl chrNW_004955507:108,669...120,584

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516

G

serpin family E member 1

susceptibility

associated with Diabetes Mellitus, Type 2;DNA:deletion, haplotype:promoter:g.-676_-674delG (human)

NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142

G

serpin family F member 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955481:1,414,930...1,426,436
Ensembl chrNW_004955481:1,414,930...1,426,241

G

superoxide dismutase 1

associated with Diabetes Mellitus, Non-Insulin-Dependent

NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727

G

superoxide dismutase 2

ClinVar Annotator: match by term: SUPEROXIDE DISMUTASE 2 POLYMORPHISM

PMID:8633092 PMID:10425186 PMID:12624725 PMID:15591282 PMID:16538174 More...

NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163

G

secreted protein acidic and cysteine rich

associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:mesentery, blood vessel

NCBI chrNW_004955408:6,100,123...6,122,460
Ensembl chrNW_004955408:6,099,003...6,122,459

G

thrombospondin 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955416:6,490,034...6,506,419
Ensembl chrNW_004955416:6,489,451...6,506,419

G

thrombospondin 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955411:4,315,055...4,347,044
Ensembl chrNW_004955411:4,314,984...4,347,383

G

tumor necrosis factor

susceptibility

associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:c.-308G>A (human)

NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700

G

vascular endothelial growth factor A

ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 1

NCBI chrNW_004955437:9,527,445...9,541,908

Diabetic Foot

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adiponectin, C1Q and collagen domain containing

protein:decreased expression:plasma

NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402

G

advanced glycosylation end-product specific receptor

associated with Diabetes Mellitus, Type 2;protein:decreased expression:blood

NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479

G

gap junction protein alpha 1

protein:increased expression:dermis

NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095

G

hypoxia inducible factor 1 subunit alpha

mRNA,protein:decreased expression:blood serum, foot (human)

NCBI chrNW_004955466:8,000,311...8,022,497
Ensembl chrNW_004955466:8,000,044...8,022,497

G

insulin like growth factor 1

protein:decreased expression:fibroblast of dermis,stratum basale of epidermis:

NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152

G

interleukin 15

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:dermis, endothelial cell

NCBI chrNW_004955471:1,496,352...1,583,919
Ensembl chrNW_004955471:1,497,483...1,511,469

G

integrin subunit alpha M

protein:increased expression:pes (human)

NCBI chrNW_004955493:8,116,886...8,160,806
Ensembl chrNW_004955493:8,116,834...8,260,759

G

mannose binding lectin 2

protein:increased expression:serum:

NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006

G

matrix metallopeptidase 9

severity

NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288

G

notch receptor 1

protein:increased expression:skin, epidermis:

NCBI chrNW_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259

G

plasminogen activator, tissue type

NCBI chrNW_004955536:730,962...754,333
Ensembl chrNW_004955536:730,981...756,394

G

pentraxin 3

protein:decreased expression:plasma (human)

NCBI chrNW_004955448:8,366,795...8,373,010
Ensembl chrNW_004955448:8,366,925...8,372,411

G

toll like receptor 4

susceptibility

DNA:SNPs,haplotype: :rs4986790,rs4986791,rs10759931,rs1927911(human);

NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135

diabetic retinopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin converting enzyme 2

treatment

associated with Diabetes Mellitus, Experimental
human gene in a mouse model
CTD Direct Evidence: therapeutic

PMID:21792177 PMID:31380462

RGD:40818278 RGD:8548900

NCBI chrNW_004955519:2,591,229...2,643,705
Ensembl chrNW_004955519:2,591,248...2,633,495

G

acid phosphatase 1

associated with Diabetes Mellitus, Insulin-Dependent

NCBI chrNW_004955487:290,434...302,405
Ensembl chrNW_004955487:290,557...302,547

G

adiponectin, C1Q and collagen domain containing

disease_progression

associated with Diabetes Mellitus, Type 2;protein:increased expression:serum
associated with Diabetes Mellitus, Type 2;DNA:SNP: :g.45T>G (human)

PMID:17970779 PMID:24655058

RGD:8694412 RGD:8694475

NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402

G

adrenomedullin

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma

NCBI chrNW_004955414:25,951,473...25,953,593
Ensembl chrNW_004955414:25,951,349...25,953,645

G

adrenoceptor beta 3

associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.W64R rs4994 (human)

NCBI chrNW_004955463:13,663,064...13,665,553

G

advanced glycosylation end-product specific receptor

no_association
treatment
susceptibility
severity

associated with Diabetes Mellitus, Type 2;protein:increased expression:serum
associated with Diabetes Mellitus, Type 2;DNA:polymorphisms:promoter, cds, intron:g.-443T>C, p.G82S, g.1704G>T (rs1800625, rs2070600, rs184003) (human)
associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A (human)
associated with Diabetes Mellitus, Type 2;DNA:SNP: :2245G>A (human)
associated with Diabetes Mellitus, Type 2;DNA:polymorphisms: :p.G82S, 1704G>T, 2184A>G (human)
associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Type 2;DNA:missense mutation, snp, haplotype:cds, intron:p.G82S, g.1704G>T (human)
protein:increased expression:retina inner nuclear layer, retinal ganglion cell (rat)
associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-429T>C (human)
associated with Diabetes Mellitus, Type 1;DNA:SNP:promoter:-374T>A (human)
associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A, - 429T>C (human)

PMID:11375354 PMID:14704946 PMID:16969646 PMID:19542745 PMID:22116960 More...

RGD:7244174 RGD:7244175 RGD:7244176 RGD:7244248 RGD:7244369 RGD:8695958 RGD:8695965 RGD:8695966 RGD:8695967 RGD:8695979 RGD:8695983

NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479

G

angiotensinogen

treatment

CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Type 1;DNA:polymorphism: :p.M235T (human)
associated with Diabetes Mellitus, Experimental

PMID:10862638 PMID:15387897 PMID:21792177

RGD:8548872 RGD:8548900

NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357

G

angiotensin II receptor type 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955474:8,733,942...8,781,305
Ensembl chrNW_004955474:8,733,942...8,781,255

G

AKT serine/threonine kinase 1

mRNA, protein:increased expression:retina

NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904

G

angiopoietin 1

associated with Diabetes Mellitus, Experimental

NCBI chrNW_004955417:30,199,508...30,386,695
Ensembl chrNW_004955417:30,198,842...30,386,266

G

angiopoietin 2

protein:increased expression:retina (rat)

NCBI chrNW_004955403:54,139,823...54,193,740
Ensembl chrNW_004955403:54,139,823...54,195,032

G

apolipoprotein A4

protein:increased expression:vitreous humor (human)

NCBI chrNW_004955412:18,158,095...18,160,636
Ensembl chrNW_004955412:18,155,801...18,160,701

G

apolipoprotein B

associated with Diabetes Mellitus, Non-Insulin-Dependent

NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424

G

apolipoprotein C3

severity

protein:increased expression:serum

NCBI chrNW_004955412:18,165,667...18,168,015
Ensembl chrNW_004955412:18,165,667...18,168,015

G

apolipoprotein E

susceptibility
no_association

associated with Diabetic Mellitus type 2;DNA:polymorphism:exon:

PMID:11495633 PMID:16862278

RGD:7771553 RGD:7771557

NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888

G

apolipoprotein H

protein:increased expression:vitreous humor

NCBI chrNW_004955478:5,612,258...5,626,061
Ensembl chrNW_004955478:5,610,164...5,626,020

G

aquaporin 4

NCBI chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709

G

bradykinin receptor B1

treatment

associated with Diabetes Mellitus, Experimental

NCBI chrNW_004955438:16,500,219...16,505,394
Ensembl chrNW_004955438:16,500,633...16,501,691

G

brain derived neurotrophic factor

associated with Diabetes Mellitus, Experimental;protein:decreased expression:retina:

NCBI chrNW_004955476:6,773,244...6,822,201
Ensembl chrNW_004955476:6,772,088...6,822,588

G

caspase 3

associated with Diabetes Mellitus, Non-Insulin-Dependent
associated with Diabetes Mellitus, Experimental;protein:increased expresssion:retina
CTD Direct Evidence: marker/mechanism

PMID:19013511 PMID:19187597 PMID:20654064

RGD:2311444 RGD:2311448

NCBI chrNW_004955403:24,315,712...24,326,271

G

caspase 9

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased activation:retina

NCBI chrNW_004955527:2,613,691...2,630,217
Ensembl chrNW_004955527:2,613,683...2,629,738

G

catalase

protein:decreased expression:retina

NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464

G

C-C motif chemokine ligand 5

severity

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor
protein:increased expression:serum

PMID:16249511 PMID:18978347

RGD:2307061 RGD:2307104

NCBI chrNW_004955481:10,293,758...10,301,118
Ensembl chrNW_004955481:10,293,399...10,301,143

G

cellular communication network factor 2

associated with Diabetes Mellitus, Experimental; mRNA:increased expression:retina (rat)

NCBI chrNW_004955436:12,523,602...12,526,986
Ensembl chrNW_004955436:12,522,944...12,526,480

G

CD34 molecule

mRNA, protein:increased expression:retina

NCBI chrNW_004955406:43,116,688...43,130,405
Ensembl chrNW_004955406:43,117,816...43,130,463

G

CD59 molecule (CD59 blood group)

protein:decreased expression:retina

NCBI chrNW_004955422:12,500,572...12,528,738

G

CDK5 regulatory subunit associated protein 1 like 1

disease_progression

DNA:SNP:intron: (rs7756992) (human)

NCBI chrNW_004955483:5,398,748...5,993,071
Ensembl chrNW_004955483:5,398,687...5,993,079

G

complement factor B

no_association

associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs537160, rs4151657, rs2072633 (human)
associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs1048709 (human)

NCBI chrNW_004955437:461,235...466,908
Ensembl chrNW_004955437:461,235...470,464

G

claudin 1

treatment

NCBI chrNW_004955420:17,798,974...17,815,049
Ensembl chrNW_004955420:17,798,974...17,815,205

G

clusterin

treatment

associated with Diabetes Mellitus, Experimental

NCBI chrNW_004955403:50,160,598...50,175,876
Ensembl chrNW_004955403:50,160,598...50,175,876

G

C-X-C motif chemokine ligand 10

NCBI chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927

G

C-X-C motif chemokine ligand 12

severity

protein:increased expression:vitreous humor

NCBI chrNW_004955546:1,929,269...1,941,690
Ensembl chrNW_004955546:1,929,269...1,941,690

G

delta like canonical Notch ligand 4

severity

mRNA,protein:increased expression:retina:

PMID:30787185 PMID:34362349

RGD:155663348 RGD:155663356

NCBI chrNW_004955416:7,807,049...7,816,346
Ensembl chrNW_004955416:7,807,049...7,817,420

G

endothelin 1

mRNA:increased expression:retina (rat)
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:exon:p.K198N (human)
associated with Diabetes Mellitus, Insulin-Dependent;protein:increased secretion:plasma

PMID:18806884 PMID:19293263 PMID:20628425

RGD:2313279 RGD:2313281 RGD:9068929

NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753

G

epidermal growth factor receptor

treatment

protein:increased expression:retina
associated with Diabetes Mellitus, Experimental

PMID:7947554 PMID:23831329

RGD:10059675 RGD:1580957

NCBI chrNW_004955456:321,222...456,431

G

elastin

NCBI chrNW_004955456:13,788,992...13,818,836

G

endoglin

associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma,vitreous body

NCBI chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694

G

E1A binding protein p300

associated with Diabetes Mellitus, Experimental

NCBI chrNW_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933

G

erythropoietin

susceptibility

associated with Diabetes Mellitus, Experimental
DNA:snp:promoter:-1125T>G(rs1617640)(human)
protein:increased expression:serum,vitreous body

PMID:18235022 PMID:18458324 PMID:18670462 PMID:24508793

RGD:10400906 RGD:2313837 RGD:2313838 RGD:2313890

NCBI chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355

G

coagulation factor XIII A chain

protein:increased expression:optic choroid vascular plexus:

NCBI chrNW_004955465:7,444,118...7,617,366
Ensembl chrNW_004955465:7,443,166...7,617,436

G

coagulation factor III, tissue factor

protein:increased expression:aqueous humor,serum

NCBI chrNW_004955423:254,060...264,448
Ensembl chrNW_004955423:254,189...264,159

G

coagulation factor VII

associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human)

NCBI chrNW_004955404:685,170...692,797
Ensembl chrNW_004955404:680,594...693,665

G

fibroblast growth factor 2

DNA:polymorphism:promotor:g.-553T>A(human)
associated with Pregnancy in Diabetics
associated with Diabetes Mellitus, Experimental
DNA:polymorphism:intron:g.754C>G(human)

PMID:9141532 PMID:14975211 PMID:17997184 PMID:18279437

RGD:2315844 RGD:2315845 RGD:2315875 RGD:2315885

NCBI chrNW_004955428:17,840,554...17,894,779
Ensembl chrNW_004955428:17,840,628...17,894,773

G

fms related receptor tyrosine kinase 1

treatment

PMID:17143550 PMID:18174522

RGD:10402119 RGD:2313721

NCBI chrNW_004955497:7,653,309...7,831,737
Ensembl chrNW_004955497:7,653,248...7,831,472

G

alpha-L-fucosidase 1

associated with Diabetes Mellitus, Experimental;protein:increased activity:retina

NCBI chrNW_004955452:3,744,071...3,759,776
Ensembl chrNW_004955452:3,744,755...3,759,676

G

glutamate decarboxylase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955429:3,092,977...3,170,128
Ensembl chrNW_004955429:3,096,453...3,169,259

G

glyceraldehyde-3-phosphate dehydrogenase

associated with Diabetes Mellitus, Experimental

NCBI chrNW_004955413:4,162,467...4,166,783
Ensembl chrNW_004955413:4,162,467...4,166,783

G

GC vitamin D binding protein

protein:increased expression:vitreous body

NCBI chrNW_004955447:1,361,698...1,400,633
Ensembl chrNW_004955447:1,361,566...1,402,491

G

gamma-glutamyltransferase 1

associated with Diabetes Mellitus,Insulin-Dependent;protein:increased activity:serum

NCBI chrNW_004955455:8,082,578...8,099,523

G

glyoxalase I

DNA:SNP:promoter:-7C>T (human)

NCBI chrNW_004955437:4,728,709...4,749,834
Ensembl chrNW_004955437:4,728,709...4,749,834

G

glutamate-ammonia ligase

treatment

associated with Experimental Diabetes Mellitus

NCBI chrNW_004955406:21,266,383...21,274,546
Ensembl chrNW_004955406:21,266,383...21,275,309

G

hes family bHLH transcription factor 1

mRNA:increased expression:retina:

NCBI chrNW_004955420:14,565,921...14,568,447
Ensembl chrNW_004955420:14,564,283...14,568,447

G

hes related family bHLH transcription factor with YRPW motif 2

mRNA:increased expression:retina:

NCBI chrNW_004955436:7,060,930...7,070,610
Ensembl chrNW_004955436:7,060,930...7,070,030

G

homeostatic iron regulator

associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.C282Y (human)

NCBI chrNW_004955483:933,269...941,070
Ensembl chrNW_004955483:932,352...941,143

G

hepatocyte growth factor

disease_progression

associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum

PMID:15525877 PMID:18335393

RGD:2313565 RGD:8548539

NCBI chrNW_004955410:4,114,280...4,181,953
Ensembl chrNW_004955410:4,114,778...4,182,058

G

hypoxia inducible factor 1 subunit alpha

severity
treatment

protein:increased expression:retina, vascular endothelial cell (human)
associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Experimental;protein:increased expression:retina (rat)

PMID:17229797 PMID:20515763 PMID:22110070

RGD:7364887 RGD:8694462 RGD:8696025

NCBI chrNW_004955466:8,000,311...8,022,497
Ensembl chrNW_004955466:8,000,044...8,022,497

G

HRas proto-oncogene, GTPase

NCBI chrNW_004955476:11,508,446...11,510,333
Ensembl chrNW_004955476:11,508,126...11,510,333

G

intercellular adhesion molecule 1

treatment

CTD Direct Evidence: therapeutic
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K469E (human)

PMID:10485912 PMID:18834676 PMID:18942221 PMID:25066112

RGD:11354984 RGD:2313471 RGD:2313472

NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755

G

insulin like growth factor 1

susceptibility

protein:decreased expression:serum

PMID:16873705 PMID:17194636

RGD:1598424 RGD:2313764

NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152

G

insulin like growth factor 1 receptor

disease_progression

mRNA:increased expression:retina:

NCBI chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666

G

interleukin 10

susceptibility

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor
associated with Diabetes Mellitus, Type 2

PMID:16696964 PMID:18978347 PMID:18988929 PMID:22105495

RGD:1598486 RGD:2307061 RGD:2307272 RGD:7364856

NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779

G

interleukin 18

associated with Diabetes Mellitus, Type 2;protein:increased expression:serum

PMID:16260350 PMID:19011009

RGD:4889417 RGD:8655907

NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634

G

interleukin 1 alpha

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor

NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466

G

interleukin 1 beta

protein:increased expression:serum, vitreous humour
associated with Diabetes Mellitus, Type 2; protein:decreased tyrosine phosphorylation:vitreous humor

PMID:16284605 PMID:18978347

RGD:2307061 RGD:7401212

NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947

G

interleukin 6

susceptibility

associated with Diabetes Mellitus, Type1;DNA:polymorphism:promoter:-174G>C(human)
associated with Diabetes Mellitus, Typpe 1;protein:increased expression:serum:
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)
associated with Diabetes Mellitus; DNA:polymorphism:promoter:-174G>C (human)

PMID:17725274 PMID:18988929 PMID:19140096 PMID:19542902

RGD:2307267 RGD:2307272 RGD:7829749 RGD:7829816

NCBI chrNW_004955410:25,079,835...25,084,390

G

insulin

CTD Direct Evidence: marker/mechanism

PMID:22046295 PMID:30463601

NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419

G

insulin receptor

NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149

G

integrin subunit alpha 2

severity
susceptibility
no_association

associated with Diabetes Mellitus; DNA:transition:cds:807C>T (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:intron:IVS7+3160A>G (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:intron:IVS8-1059T>C (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:cds:c.807T>C (human)

PMID:12540964 PMID:18806884 PMID:21632096 PMID:23776381

RGD:2307419 RGD:2313281 RGD:7777103 RGD:8686431

NCBI chrNW_004955446:14,309,516...14,421,991
Ensembl chrNW_004955446:14,309,349...14,422,170

G

integrin subunit alpha 4

treatment

associated with Diabetes Mellitus, Experimental

NCBI chrNW_004955403:15,726,296...15,807,055
Ensembl chrNW_004955403:15,723,785...15,807,111

G

integrin subunit alpha M

mRNA, protein:increased expression:retina (rat)

NCBI chrNW_004955493:8,116,886...8,160,806
Ensembl chrNW_004955493:8,116,834...8,260,759

G

integrin subunit beta 3

protein:increased expression:optic choroid vascular plexus:

NCBI chrNW_004955478:9,788,192...9,830,254
Ensembl chrNW_004955478:9,788,149...9,823,746

G

jagged canonical Notch ligand 1

mRNA,protein:increased expression:retina:

NCBI chrNW_004955415:20,490,414...20,526,068
Ensembl chrNW_004955415:20,490,414...20,527,917

G

potassium inwardly rectifying channel subfamily J member 10

treatment

associated with Diabetes Mellitus, Experimental

PMID:21672350 PMID:22143324

RGD:8662869 RGD:8662907

NCBI chrNW_004955468:11,828,525...11,860,365
Ensembl chrNW_004955468:11,828,525...11,860,365

G

lysine demethylase 1A

mRNA:increased expression:retina (human)
mRNA, protein:increased expression:retina (rat)

NCBI chrNW_004955452:3,044,042...3,104,650
Ensembl chrNW_004955452:3,044,264...3,104,418

G

kelch like ECH associated protein 1

associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:retina

NCBI chrNW_004955495:1,704,695...1,711,339
Ensembl chrNW_004955495:1,704,695...1,711,290

G

cytochrome b-245 light chain

associated with Diabetes Mellitus, Experimental

NCBI chrNW_004955541:2,570,843...2,573,822
Ensembl chrNW_004955541:2,569,727...2,574,118

G

lymphotoxin alpha

susceptibility
no_association

associated with Diabetes Mellitus, Type 2;DNA:polymorphism:
associated with Diabetes Mellitus, Type 2;DNA:polymorphism:intron, exon:252A>G, 804C>A (human)

PMID:11399938 PMID:16979413

RGD:8548772 RGD:8548797

NCBI chrNW_004955437:114,216...116,003
Ensembl chrNW_004955437:114,640...115,529

G

mitofusin 2

associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression:retina (rat)

NCBI chrNW_004955486:1,937,873...1,962,577
Ensembl chrNW_004955486:1,937,802...1,962,772

G

matrix metallopeptidase 2

protein:increased expression:plasma

PMID:12714657 PMID:18552985

RGD:1582582 RGD:8547849

NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775

G

matrix metallopeptidase 9

disease_progression

associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Type 2

PMID:10374894 PMID:16643893 PMID:21933988

RGD:1582616 RGD:8547815 RGD:8547857

NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288

G

methylenetetrahydrofolate reductase

susceptibility

associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human)

NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240

G

Myb like, SWIRM and MPN domains 1

susceptibility

associated with Diabetes Mellitus, Type 2;DNA:snps:introns: IVS1-1269C>T, IVS6+1700G>A (rs2811893, rs12092121) (human)

NCBI chrNW_004955464:1,185,184...1,226,709
Ensembl chrNW_004955464:1,185,174...1,220,848

G

NFE2 like bZIP transcription factor 2

associated with Diabetes Mellitus, Experimental;protein:decreased activity:retina

NCBI chrNW_004955403:19,510,122...19,536,428
Ensembl chrNW_004955403:19,532,103...19,535,944

G

nerve growth factor

protein:increased expression:serum
associated with Experimental Diabetes Mellitus

PMID:18282491 PMID:24030532

RGD:405100241 RGD:7242804

NCBI chrNW_004955435:18,581,889...18,633,330
Ensembl chrNW_004955435:18,581,808...18,601,059

G

nitric oxide synthase 1

mRNA, protein:decreased expression:retina

NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566

G

nitric oxide synthase 3

susceptibility
severity
no_association
onset
treatment

associated with Diabetes Mellitus, Type 2;DNA:snp:exon:c.894G>T (human)
associated with Diabetes Mellitus, Type 1;DNA:duplication:intron:IVS4?-?+27 (human)
associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:retina (rat)
associated with Diabetes Mellitus, Type 2;DNA:duplication:intron:IVS4?-?+27 (human)
DNA:snps:promoter, exon:c.-786T>C, c.774C>T (human)
associated with Diabetes Mellitus, Type 2;DNA:snps, duplication, haplotype:promoter, cds, intron:g.-786T>C, p.E298N, IVS4?-?+27 (human)

PMID:11918626 PMID:15890549 PMID:16581274 PMID:17558849 PMID:17973941 More...

RGD:7421531 RGD:7421532 RGD:7421533 RGD:7771565 RGD:7771568 RGD:7771569 RGD:7771606 RGD:7775042 RGD:7777101 RGD:7777103

NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814

G

notch receptor 1

treatment

NCBI chrNW_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259

G

natriuretic peptide A

protein:increased expression:vitreous humor

NCBI chrNW_004955486:2,061,196...2,062,805
Ensembl chrNW_004955486:2,060,735...2,063,003

G

natriuretic peptide receptor 3

mRNA:decreased expression:retina (rat)

NCBI chrNW_004955426:18,491,350...18,559,299
Ensembl chrNW_004955426:18,491,350...18,553,743

G

neuropilin 1

treatment

NCBI chrNW_004955462:4,101,997...4,241,012
Ensembl chrNW_004955462:4,101,999...4,241,012

G

nuclear transport factor 2

treatment

mRNA:decreased expression:peripheral blood:

NCBI chrNW_004955484:8,832,871...8,854,151
Ensembl chrNW_004955484:8,832,871...8,854,135

G

occludin

treatment

NCBI chrNW_004955575:163,646...210,379

G

placental growth factor

associated with Diabetes Mellitus, Type 2

NCBI chrNW_004955523:616,196...627,055
Ensembl chrNW_004955523:616,154...627,713

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma

mRNA, protein:increased expression:retina

NCBI chrNW_004955410:11,402,476...11,433,335
Ensembl chrNW_004955410:11,402,520...11,437,422

G

polo like kinase 4

treatment

NCBI chrNW_004955428:13,548,485...13,566,786
Ensembl chrNW_004955428:13,549,000...13,566,516

G

paraoxonase 1

susceptibility

associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R (human)
associated with Diabetes Mellitus;DNA:missense mutation:cds:p.L55M (rs854560) (human)
associated with Diabetes Mellitus, Type 1;protein:decreased activity:serum (human)
DNA:polymorphism:promoter:g.-907C>G (human)
CTD Direct Evidence: marker/mechanism

PMID:9661650 PMID:15270786 PMID:16949520 PMID:20012460 PMID:24100645

RGD:2313272 RGD:8547537 RGD:8547548 RGD:8547572

NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339

G

peroxisome proliferator activated receptor gamma

Retinal Leukostasis;associated with Diabetes Mellitus, Experimental

NCBI chrNW_004955429:14,814,690...14,936,869
Ensembl chrNW_004955429:14,873,908...14,937,387

G

PPARG coactivator 1 alpha

associated with Diabetes Mellitus, Experimental; mRNA:increased expression:retina (rat)

PMID:20566666 PMID:22003111

RGD:5686899 RGD:6484532

NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435

G

phosphatase and tensin homolog

mRNA, protein:decreased expression:retina

NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829

G

retinol binding protein 4

severity

protein:increased expression:blood plasma (human)

NCBI chrNW_004955507:112,342...120,050
Ensembl chrNW_004955507:108,669...120,584

G

resistin

associated with Diabetes Mellitus, Type 2

NCBI chrNW_004955563:1,607,814...1,609,273
Ensembl chrNW_004955563:1,607,814...1,609,273

G

roundabout guidance receptor 1

mRNA,protein:increased expression:retina

NCBI chrNW_004955407:12,593,911...13,485,723
Ensembl chrNW_004955407:13,107,235...13,487,053

G

serpin family E member 1

susceptibility
no_association

associated with Diabetes Mellitus, Type 2;DNA:snp, deletion:promoter:g.-844G>A, g.-676_-674delG (human)
associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human)
associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human)
associated with Diabetes Mellitus;repeat, snp:intron, 3' utr:g.7844(CA)1-6, ? (human)

PMID:7974340 PMID:9201602 PMID:12660488 PMID:19419896 PMID:23281898

RGD:8547697 RGD:8547699 RGD:8547710 RGD:8547740 RGD:8547741

NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142

G

serpin family F member 1

severity

protein:increased expression:vitreous humor
associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum
protein:alternative form:vitreous humor
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:retina
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNPs:promoter:g.-5740T>C, g.-5308G>A (rs12150053, rs12948385) (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:vitreous humor

PMID:15059706 PMID:16054135 PMID:17658465 PMID:18025835 PMID:18455830 More...

RGD:1580135 RGD:2312337 RGD:2312341 RGD:2312344 RGD:2312346 RGD:2312348

NCBI chrNW_004955481:1,414,930...1,426,436
Ensembl chrNW_004955481:1,414,930...1,426,241

G

SAGA complex associated factor 29

severity

associated with Diabetes Mellitus, Type 1; DNA:SNP:intron: rs10521145(human)

NCBI chrNW_004955493:6,759,426...6,774,796
Ensembl chrNW_004955493:6,759,426...6,774,796

G

sirtuin 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955425:20,280,725...20,307,663
Ensembl chrNW_004955425:20,279,963...20,307,663

G

slit guidance ligand 2

mRNA,protein:increased expression:retina

NCBI chrNW_004955480:3,982,977...4,314,160
Ensembl chrNW_004955480:3,984,586...4,313,908

G

superoxide dismutase 1

human gene in a mouse model
CTD Direct Evidence: therapeutic

NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727

G

superoxide dismutase 3

NCBI chrNW_004955480:257,716...263,149

G

signaling receptor and transporter of retinol STRA6

treatment

associated with type 2 diabetes mellitus

NCBI chrNW_004955450:3,579,081...3,602,538
Ensembl chrNW_004955450:3,580,662...3,602,600

G

thrombospondin 1

associated with Diabetes Mellitus, Experimental
CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955416:6,490,034...6,506,419
Ensembl chrNW_004955416:6,489,451...6,506,419

G

translocase of inner mitochondrial membrane 44

associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:retina

NCBI chrNW_004955563:1,328,374...1,342,011
Ensembl chrNW_004955563:1,328,286...1,342,476

G

toll like receptor 4

onset

associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.N299G (human)

NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135

G

tumor necrosis factor

disease_progression
no_association

associated with Diabetes Mellitus, Type 2
protein:increased expression:serum, vitreous humour
associated with Diabetes Mellitus, Type 1;protein:increased expression:platelet:
associated with Diabetes Mellitus, Type 2;DNA:polymorphism:promoter:-302A>G (human)

PMID:10540181 PMID:16284605 PMID:16979413 PMID:22105495

RGD:7364856 RGD:7394805 RGD:7401212 RGD:8548772

NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700

G

urotensin 2

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma

NCBI chrNW_004955486:5,052,045...5,056,610
Ensembl chrNW_004955486:5,052,045...5,056,610

G

vascular cell adhesion molecule 1

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:vitreous humor, serum

NCBI chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691

G

vitamin D receptor

NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:retina
associated with Diabetes Mellitus, type 2; protein:increased expression:aqueous humor of eyeball:

PMID:9852717 PMID:11978667 PMID:15788408 PMID:16636650 PMID:17513698 More...

RGD:1580565 RGD:2301992 RGD:41410819 RGD:8547996

NCBI chrNW_004955437:9,527,445...9,541,908

G

VPS26, retromer complex component A

susceptibility

DNA:SNP:: (rs1802295) (Human)

NCBI chrNW_004955437:21,911,111...21,944,888
Ensembl chrNW_004955437:21,910,680...21,944,428

G

vitronectin

associated with Diabetes Mellitus, Experimental

PMID:7536680 PMID:8804356

RGD:10040982 RGD:1580818

NCBI chrNW_004955481:4,765,078...4,768,027
Ensembl chrNW_004955481:4,765,193...4,771,019

G

von Willebrand factor

NCBI chrNW_004955413:3,672,470...3,825,588
Ensembl chrNW_004955413:3,672,470...3,819,571

G

wolframin ER transmembrane glycoprotein

susceptibility

DNA:SNP:: (rs10010131) (Human)

NCBI chrNW_004955514:3,902,508...3,924,281
Ensembl chrNW_004955514:3,902,454...3,924,610

G

X-ray repair cross complementing 1

susceptibility

DNA:SNP:cd: p.R399Q G>A (rs25487) (human)

NCBI chrNW_004955555:1,293,416...1,315,839
Ensembl chrNW_004955555:1,293,416...1,315,839

erythromelalgia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RAB7A, member RAS oncogene family

ClinVar Annotator: match by term: Sodium channelopathy-related small fiber neuropathy

NCBI chrNW_004955429:15,103,792...15,167,498

G

sodium voltage-gated channel alpha subunit 10

ClinVar Annotator: match by term: Sodium channelopathy-related small fiber neuropathy

PMID:25741868 PMID:28492532

NCBI chrNW_004955427:25,157,179...25,244,020
Ensembl chrNW_004955427:25,157,179...25,243,473

G

sodium voltage-gated channel alpha subunit 9

ClinVar Annotator: match by term: Erythermalgia, primary | ClinVar Annotator: match by term: Inherited Erythromelalgia | ClinVar Annotator: match by term: Primary erythromelalgia

PMID:1536168 PMID:10514109 PMID:10852559 PMID:10852560 PMID:14985375 More...

NCBI chrNW_004955449:7,858,156...8,017,569
Ensembl chrNW_004955449:7,923,801...8,017,569

G

septin 9

ClinVar Annotator: match by term: Sodium channelopathy-related small fiber neuropathy

NCBI chrNW_004955506:4,943,108...5,033,088
Ensembl chrNW_004955506:4,942,056...5,090,441

Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: Facial dysmorphism, immunodeficiency, livedo, and short stature

PMID:9536098 PMID:16699561 PMID:17576681 PMID:20091185 PMID:21129811 More...

NCBI chrNW_004955482:373,467...418,000
Ensembl chrNW_004955482:373,555...417,266

Familial Thoracic Aortic Aneurysm 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin alpha 2, smooth muscle

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 | ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI

PMID:646322 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 More...

NCBI chrNW_004955425:4,023,001...4,039,980
Ensembl chrNW_004955425:4,026,430...4,040,747

G

cholesterol 25-hydroxylase

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6

NCBI chrNW_004955425:3,763,302...3,764,432

G

Fas cell surface death receptor

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6

NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455

G

fibrillin 1

ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI

NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761

G

lipase A, lysosomal acid type

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6

NCBI chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142

G

myosin heavy chain 11

ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI

PMID:25500235 PMID:25637381 PMID:25741868 PMID:28492532

NCBI chrNW_004955442:528,317...644,252
Ensembl chrNW_004955442:528,880...644,264

G

myosin light chain kinase

ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI

PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532

NCBI chrNW_004955427:22,760,432...23,008,432
Ensembl chrNW_004955427:22,762,221...22,970,508

G

nudE neurodevelopment protein 1

ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI

PMID:25500235 PMID:25637381 PMID:25741868 PMID:28492532

NCBI chrNW_004955442:495,704...530,296
Ensembl chrNW_004955442:495,704...542,976

G

solute carrier family 2 member 10

ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI

PMID:25741868 PMID:28492532

NCBI chrNW_004955445:10,708,147...10,722,109
Ensembl chrNW_004955445:10,709,681...10,722,264

G

SMAD family member 3

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6

NCBI chrNW_004955450:8,747,651...8,842,003
Ensembl chrNW_004955450:8,747,651...8,842,136

G

transforming growth factor beta receptor 1

ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI

PMID:25741868 PMID:27879313 PMID:28492532

NCBI chrNW_004955419:26,490,899...26,546,349
Ensembl chrNW_004955419:26,490,899...26,547,017

Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type IV alpha 1 chain

ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | ClinVar Annotator: match by term: HANAC-like syndrome

PMID:1867713 PMID:3691802 PMID:7695699 PMID:8218237 PMID:9016532 More...

NCBI chrNW_004955404:2,196,193...2,327,324
Ensembl chrNW_004955404:2,260,029...2,326,074

G

collagen type IV alpha 2 chain

ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chrNW_004955404:2,092,184...2,178,079
Ensembl chrNW_004955404:2,092,184...2,178,079

hereditary hemorrhagic telangiectasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor like type 1

ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia

PMID:16705692 PMID:21158752 PMID:25637381 PMID:25741868 PMID:26176610 More...

NCBI chrNW_004955547:2,278,548...2,293,865
Ensembl chrNW_004955547:2,279,042...2,294,443

G

adenylate kinase 1

ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia

PMID:15879500 PMID:20414677 PMID:28492532

NCBI chrNW_004955419:799,415...807,138
Ensembl chrNW_004955419:799,410...811,029

G

cyclin H

ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia

PMID:18446851 PMID:24038909 PMID:25741868 PMID:28295764 PMID:28492532 More...

NCBI chrNW_004955418:23,790,398...23,807,509
Ensembl chrNW_004955418:23,790,001...23,807,702

G

dolichyl-phosphate mannosyltransferase subunit 2, regulatory

ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia

PMID:15879500 PMID:20414677 PMID:28492532

NCBI chrNW_004955419:740,815...743,036
Ensembl chrNW_004955419:740,815...743,036

G

endoglin

no_association

ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler-Rendu-Weber disease
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: Osler-Rendu-Weber disease

PMID:7894484 PMID:8162075 PMID:8595426 PMID:9157574 PMID:9245986 More...

NCBI chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694

G

growth differentiation factor 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955556:2,204,841...2,210,335
Ensembl chrNW_004955556:2,205,071...2,209,055

G

phosphatidylinositol-4-phosphate 5-kinase like 1

ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia

PMID:15879500 PMID:20414677 PMID:28492532

NCBI chrNW_004955419:745,400...753,819
Ensembl chrNW_004955419:745,344...753,819

G

RAS p21 protein activator 1

ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia

PMID:18446851 PMID:24038909 PMID:25741868 PMID:28295764 PMID:28492532 More...

NCBI chrNW_004955418:23,807,740...23,897,699
Ensembl chrNW_004955418:23,807,740...23,897,707

G

SMAD family member 4

ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome

PMID:25741868 PMID:28492532

NCBI chrNW_004955402:35,956,080...36,001,746
Ensembl chrNW_004955402:35,961,165...35,994,538

G

ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4

ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia

PMID:15879500 PMID:20414677 PMID:28492532

NCBI chrNW_004955419:756,768...764,897
Ensembl chrNW_004955419:756,747...764,897

G

ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6

ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia

PMID:15879500 PMID:20414677 PMID:28492532

NCBI chrNW_004955419:771,721...792,756
Ensembl chrNW_004955419:772,837...796,724

G

tumor necrosis factor

protein:decreased expression:blood, lymphocyte

NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700

Hereditary Hemorrhagic Telangiectasia, Type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor like type 1

ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1

PMID:9536098 PMID:15024723 PMID:15065824 PMID:15517393 PMID:15712271 More...

NCBI chrNW_004955547:2,278,548...2,293,865
Ensembl chrNW_004955547:2,279,042...2,294,443

G

endoglin

ClinVar Annotator: match by term: ENG-related condition | ClinVar Annotator: match by term: Haemorrhagic telangiectasia 1 | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1

PMID:2601709 PMID:7894484 PMID:8162075 PMID:9245986 PMID:9366572 More...

NCBI chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694

G

presenilin 1

ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1

PMID:25741868 PMID:29142009 PMID:30822634 PMID:32235595

NCBI chrNW_004955523:2,128,529...2,210,737
Ensembl chrNW_004955523:2,128,529...2,210,737

G

SMAD family member 4

ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1

NCBI chrNW_004955402:35,956,080...36,001,746
Ensembl chrNW_004955402:35,961,165...35,994,538

G

transforming growth factor beta 1

protein:decreased expression:plasma:

NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441

Hereditary Hemorrhagic Telangiectasia, Type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor like type 1

ClinVar Annotator: match by term: Lip telangiectasia | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2

PMID:6470589 PMID:8640225 PMID:9245985 PMID:9536098 PMID:10187774 More...

NCBI chrNW_004955547:2,278,548...2,293,865
Ensembl chrNW_004955547:2,279,042...2,294,443

G

endoglin

ClinVar Annotator: match by term: Oral cavity telangiectasia

NCBI chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694

Hereditary Hemorrhagic Telangiectasia, Type 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

growth differentiation factor 2

ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 5

PMID:23972370 PMID:25741868 PMID:26801773 PMID:27081547 PMID:28492532 More...

NCBI chrNW_004955556:2,204,841...2,210,335
Ensembl chrNW_004955556:2,205,071...2,209,055

hypotrichosis-lymphedema-telangiectasia syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SRY-box transcription factor 18

ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia syndrome

PMID:11701398 PMID:12740761 PMID:24697860 PMID:26148450 PMID:28492532 More...

NCBI chrNW_004955528:204,729...206,772

hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SRY-box transcription factor 18

ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:28492532 More...

NCBI chrNW_004955528:204,729...206,772

Idiopathic Juxtafoveal Retinal Telangiectasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

crumbs cell polarity complex component 1

NCBI chrNW_004955406:33,817,754...34,005,937
Ensembl chrNW_004955406:33,817,605...34,005,943

juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SMAD family member 4

ClinVar Annotator: match by term: JP/HHT SYNDROME | ClinVar Annotator: match by term: JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA | ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI

PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9536098 More...

NCBI chrNW_004955402:35,956,080...36,001,746
Ensembl chrNW_004955402:35,961,165...35,994,538

Megalencephaly - Cutis Marmorata Telangiectatica Congenita

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AKT serine/threonine kinase 3

ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome

PMID:22729224 PMID:23745724 PMID:25416470 PMID:25523067 PMID:28086757

NCBI chrNW_004955406:6,907,876...7,163,672

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION | ClinVar Annotator: match by term: Macrocephaly cutis marmorata telangiectatica congenita | ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome | ClinVar Annotator: match by term: PIK3CA related overgrowth spectrum

PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More...

NCBI chrNW_004955420:8,355,415...8,427,024
Ensembl chrNW_004955420:8,356,353...8,427,024

G

phosphoinositide-3-kinase regulatory subunit 1

ClinVar Annotator: match by term: Vascular Malformations and Overgrowth

PMID:19962457 PMID:25157968 PMID:25741868 PMID:26619011 PMID:34040190

NCBI chrNW_004955446:1,020,707...1,098,327
Ensembl chrNW_004955446:1,020,043...1,098,820

G

phosphoinositide-3-kinase regulatory subunit 2

ClinVar Annotator: match by term: Macrocephaly cutis marmorata telangiectatica congenita

PMID:16357568 PMID:21984976 PMID:22729224 PMID:24497998 PMID:25741868 More...

NCBI chrNW_004955524:3,234,111...3,241,445
Ensembl chrNW_004955524:3,234,111...3,241,173

G

Ras like without CAAX 1

ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION

PMID:24469055 PMID:25741868 PMID:28492532

NCBI chrNW_004955545:2,089,530...2,099,404
Ensembl chrNW_004955545:2,089,536...2,099,404

mesenteric vascular occlusion

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

intercellular adhesion molecule 1

treatment

NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755

G

Janus kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208

G

serpin family D member 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955442:19,525,411...19,537,986
Ensembl chrNW_004955442:19,525,411...19,538,384

Peripheral Arterial Occlusive Disease 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

serpin family A member 3

ClinVar Annotator: match by term: Peripheral arterial occlusive disease 1

PMID:1618300 PMID:9040504 PMID:11289720 PMID:25741868

NCBI chrNW_004955438:17,758,763...17,766,113
Ensembl chrNW_004955438:17,758,718...17,766,180

peripheral artery 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:decreased expression:plasma

NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402

G

beta-2-microglobulin

severity

NCBI chrNW_004955416:11,205,503...11,211,325
Ensembl chrNW_004955416:11,204,849...11,215,568

G

bone morphogenetic protein 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955415:17,048,374...17,058,172
Ensembl chrNW_004955415:17,048,030...17,060,181

G

cellular communication network factor 1

severity

associated with type 2 diabetes mellitus; protein:increased expression:blood serum (human)

NCBI chrNW_004955423:8,416,498...8,419,029
Ensembl chrNW_004955423:8,413,725...8,419,166

G

DAB2 interacting protein

DNA:SNP:CDS:intron 1 (rs7025486) (human)

NCBI chrNW_004955419:6,229,437...6,416,619
Ensembl chrNW_004955419:6,228,591...6,416,402

G

GTP cyclohydrolase 1

treatment

associated with Experimental Diabetes Mellitus

NCBI chrNW_004955409:8,624,225...8,670,436
Ensembl chrNW_004955409:8,624,468...8,668,614

G

methylenetetrahydrofolate reductase

susceptibility

associated with Diabetes Mellitus, Type 2;DNA:transition:cds:g.677C>T (human)

NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240

G

neuropeptide Y

NCBI chrNW_004955410:26,348,388...26,355,232
Ensembl chrNW_004955410:26,348,504...26,355,297

G

neuropeptide Y receptor Y1

NCBI chrNW_004955403:41,681,834...41,693,094
Ensembl chrNW_004955403:41,681,728...41,694,020

G

neuropeptide Y receptor Y2

NCBI chrNW_004955471:11,796,278...11,804,114
Ensembl chrNW_004955471:11,796,278...11,804,114

G

neuropeptide Y receptor Y5

NCBI chrNW_004955403:41,667,632...41,675,619
Ensembl chrNW_004955403:41,667,632...41,675,619

G

purinergic receptor P2Y12

NCBI chrNW_004955448:2,442,368...2,488,567
Ensembl chrNW_004955448:2,442,368...2,488,567

G

serpin family E member 1

associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human)

NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142

phlebitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenomedullin 2

CTD Direct Evidence: therapeutic

NCBI chrNW_004955413:33,460,975...33,469,935
Ensembl chrNW_004955413:33,465,982...33,466,953

priapism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL2 apoptosis regulator

protein:increased expression:erectile tissue (rat)

NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485

G

coagulation factor XIII A chain

susceptibility

associated with sickle cell anemia;DNA:SNPs::multiple(human)

NCBI chrNW_004955465:7,444,118...7,617,366
Ensembl chrNW_004955465:7,443,166...7,617,436

G

MDM2 proto-oncogene

protein:increased expression:corpus cavernosum

NCBI chrNW_004955458:15,264,028...15,287,290
Ensembl chrNW_004955458:15,263,739...15,286,808

proliferative diabetic retinopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adiponectin, C1Q and collagen domain containing

associated with Diabetes Mellitus, Type 2;protein:increased expression:aqueous humor

NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402

G

advanced glycosylation end-product specific receptor

protein:increased expression:vitreous humor

NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479

G

BCL6 corepressor

susceptibility

associated with type 1 diabetes mellitus;DNA:hypomethylation:5'UTR

NCBI chrNW_004955566:1,412,540...1,510,339
Ensembl chrNW_004955566:1,412,540...1,457,329

G

caldesmon 1

mRNA:increased expression:retina (human)

NCBI chrNW_004955494:7,578,162...7,675,558

G

calumenin

mRNA:increased expression:retina (human)

NCBI chrNW_004955479:9,541,574...9,572,189
Ensembl chrNW_004955479:9,541,568...9,572,266

G

catalase

associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum:

NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464

G

cellular communication network factor 1

protein:increased expression:vitreous body (human)

NCBI chrNW_004955423:8,416,498...8,419,029
Ensembl chrNW_004955423:8,413,725...8,419,166

G

collagen type V alpha 2 chain

mRNA:increased expression:retina (human)

NCBI chrNW_004955403:9,562,401...9,703,828
Ensembl chrNW_004955403:9,562,401...9,703,828

G

collagen type VI alpha 3 chain

mRNA:increased expression:retina (human)

NCBI chrNW_004955542:2,869,183...2,950,569
Ensembl chrNW_004955542:2,887,723...2,949,062

G

coronin 1C

mRNA:increased expression:retina (human)

NCBI chrNW_004955455:9,905,243...9,952,504
Ensembl chrNW_004955455:9,901,702...9,953,098

G

ectonucleotide pyrophosphatase/phosphodiesterase 2

disease_progression

protein:decreased expression:vitreous:

NCBI chrNW_004955417:25,308,424...25,384,307
Ensembl chrNW_004955417:25,308,361...25,384,443

G

fms related receptor tyrosine kinase 1

protein:increased expression:vitreous:

NCBI chrNW_004955497:7,653,309...7,831,737
Ensembl chrNW_004955497:7,653,248...7,831,472

G

interleukin 6 receptor

protein:increased expression:serum

NCBI chrNW_004955545:932,814...979,359
Ensembl chrNW_004955545:950,765...981,762

G

mitogen-activated protein kinase kinase kinase 8

protein:increased activity:serum:

NCBI chrNW_004955429:21,717,153...21,739,349
Ensembl chrNW_004955429:21,716,958...21,741,585

G

platelet derived growth factor subunit B

protein:increased expression:vitreous:

NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987

G

peroxisome proliferator activated receptor gamma

susceptibility
onset

DNA:snp:cds:p.P12A (rs1801282) (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:promoter:c.-2819A>G (human)

PMID:18541841 PMID:19125195 PMID:23559865

RGD:2301854 RGD:8552820 RGD:8699508

NCBI chrNW_004955429:14,814,690...14,936,869
Ensembl chrNW_004955429:14,873,908...14,937,387

G

protein tyrosine phosphatase non-receptor type 1

protein:increased expression:vitreous humor (human)

NCBI chrNW_004955445:7,754,313...7,819,229
Ensembl chrNW_004955445:7,754,319...7,819,275

G

retinol binding protein 4

disease_progression

protein:increased expression:blood serum (human)

NCBI chrNW_004955507:112,342...120,050
Ensembl chrNW_004955507:108,669...120,584

G

serpin family E member 1

susceptibility
disease_progression

associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human)
protein:increased expression:plasma (human)

PMID:16416371 PMID:23304115

RGD:8699494 RGD:8699497

NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142

G

serpin family F member 1

treatment

protein:increased expression:vitreous fluid (human)

PMID:11723044 PMID:15059706

RGD:1580135 RGD:8554895

NCBI chrNW_004955481:1,414,930...1,426,436
Ensembl chrNW_004955481:1,414,930...1,426,241

G

slit guidance ligand 2

associated with eye disease; protein:increased expression:vitreous

NCBI chrNW_004955480:3,982,977...4,314,160
Ensembl chrNW_004955480:3,984,586...4,313,908

G

serine and arginine rich splicing factor 6

DNA:snp:exon:p.P281P (rs2235611) (human)

NCBI chrNW_004955445:13,663,474...13,669,102
Ensembl chrNW_004955445:13,661,209...13,669,102

G

translocase of inner mitochondrial membrane 44

mRNA:decreased expression:retina

NCBI chrNW_004955563:1,328,374...1,342,011
Ensembl chrNW_004955563:1,328,286...1,342,476

G

vascular endothelial growth factor A

associated with Diabetes Mellitus, Type 2; protein:increased expression:retina

NCBI chrNW_004955437:9,527,445...9,541,908

Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor like type 1

ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED

PMID:8640225 PMID:9245985 PMID:10187774 PMID:10767348 PMID:11170071 More...

NCBI chrNW_004955547:2,278,548...2,293,865
Ensembl chrNW_004955547:2,279,042...2,294,443

G

endoglin

ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED

PMID:14684682 PMID:15024723 PMID:15115879 PMID:15687131 PMID:15879500 More...

NCBI chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694

Raynaud disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

catalase

treatment

associated with Scleroderma, Systemic;protein:decreased activity:serum:

NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464

G

heterogeneous nuclear ribonucleoprotein K

NCBI chrNW_004955432:3,246,090...3,257,774
Ensembl chrNW_004955432:3,246,092...3,257,774

renal artery disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

endothelin 1

mRNA:increased expression:afferent arteriole of kidney (rat)

NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753

G

methylenetetrahydrofolate reductase

DNA:transition:cds:g.677C>T (human)

NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240

renal artery obstruction

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apolipoprotein C3

protein:increased expression:plasma

NCBI chrNW_004955412:18,165,667...18,168,015
Ensembl chrNW_004955412:18,165,667...18,168,015

G

CD40 molecule

disease_progression

NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093

G

superoxide dismutase 1

protein:decreased expression:kidney (rat)

NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727

retinal artery occlusion

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor V

no_association

NCBI chrNW_004955462:7,695,004...7,757,832
Ensembl chrNW_004955462:7,694,939...7,757,463

G

interleukin 10

susceptibility

DNA:SNP:promoter:-592C>A (rs1800872) (human)

NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779

G

interleukin 6

susceptibility

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

PMID:15604420 PMID:19421412

RGD:7829798 RGD:7829809

NCBI chrNW_004955410:25,079,835...25,084,390

G

tumor necrosis factor

NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700

retinal telangiectasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

crumbs cell polarity complex component 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955406:33,817,754...34,005,937
Ensembl chrNW_004955406:33,817,605...34,005,943

G

CST telomere replication complex component 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955467:8,673,069...8,700,730
Ensembl chrNW_004955467:8,673,128...8,702,165

G

frizzled class receptor 4

ClinVar Annotator: match by term: Retinal telangiectasis

PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More...

NCBI chrNW_004955414:6,094,585...6,103,910
Ensembl chrNW_004955414:6,094,585...6,098,865

G

kinase insert domain receptor

protein:increased expression,increased phosphorylation:eye:

NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583

G

serine protease 23

ClinVar Annotator: match by term: Retinal telangiectasis

PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More...

NCBI chrNW_004955414:6,202,383...6,213,521
Ensembl chrNW_004955414:6,202,383...6,213,521

G

RCC1 and BTB domain containing protein 1

ClinVar Annotator: match by term: Retinal telangiectasis

PMID:25741868 PMID:26908610 PMID:28492532 PMID:31494449

NCBI chrNW_004955431:2,976,283...3,080,665
Ensembl chrNW_004955431:2,976,283...3,080,405

G

vascular endothelial growth factor A

severity

protein:increased expression:eye:

NCBI chrNW_004955437:9,527,445...9,541,908

retinal vein occlusion

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aquaporin 1 (Colton blood group)

NCBI chrNW_004955410:32,066,196...32,078,661
Ensembl chrNW_004955410:32,066,196...32,078,717

G

aquaporin 4

mRNA:decreased expression:retina

NCBI chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709

G

coagulation factor II, thrombin

no_association

DNA:SNP: :20210G>A (human)

PMID:14994919 PMID:22800650

RGD:7387258 RGD:7394774

NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517

G

coagulation factor V

onset
no_association

associated with Behcet Syndrome;DNA:missense mutation:cds:p.R506Q (human)
DNA:missense mutation:cds:1691G>A (human)
DNA:SNP:cds:1691G>A (human)
CTD Direct Evidence: marker/mechanism

PMID:10511031 PMID:10634550 PMID:12022286 PMID:16113792

RGD:7394767 RGD:7394773 RGD:7394778

NCBI chrNW_004955462:7,695,004...7,757,832
Ensembl chrNW_004955462:7,694,939...7,757,463

G

fibroblast growth factor 2

NCBI chrNW_004955428:17,840,554...17,894,779
Ensembl chrNW_004955428:17,840,628...17,894,773

G

interleukin 1 beta

mRNA:increased expression:neuroretina, retinal pigment epithelium (rat)

NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947

G

interleukin 6

NCBI chrNW_004955410:25,079,835...25,084,390

G

integrin subunit alpha 2

susceptibility

CTD Direct Evidence: marker/mechanism
DNA:snp, haplotype:cds:g.807C>T (human)

NCBI chrNW_004955446:14,309,516...14,421,991
Ensembl chrNW_004955446:14,309,349...14,422,170

G

potassium inwardly rectifying channel subfamily J member 10

NCBI chrNW_004955468:11,828,525...11,860,365
Ensembl chrNW_004955468:11,828,525...11,860,365

G

matrix metallopeptidase 2

DNA:SNP:promoter:-1306C>T (rs243865) (human)

NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775

G

methylenetetrahydrofolate reductase

no_association
susceptibility

DNA:SNP: :1298A>C(human)
DNA:missense mutation:cds:677C>T (human)
DNA:SNP: :677C>T(human)

PMID:10485556 PMID:23289804 PMID:24250697

RGD:10449405 RGD:10449421 RGD:7387256

NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240

G

neuropilin 1

NCBI chrNW_004955462:4,101,997...4,241,012
Ensembl chrNW_004955462:4,101,999...4,241,012

G

paraoxonase 1

susceptibility

protein:decreased activity:serum (human)
DNA:missense mutation:cds:p.L55M (human)

PMID:18084236 PMID:23441121

RGD:8547547 RGD:8547555

NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339

G

serpin family E member 1

susceptibility

protein:increased activity:plasma (human)
DNA:deletion:promoter:g.-676_-674delG (human)

PMID:15213845 PMID:16244763

RGD:8547742 RGD:8547805

NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142

G

serpin family F member 1

protein:decreased expression:vitreous humor (human)

NCBI chrNW_004955481:1,414,930...1,426,436
Ensembl chrNW_004955481:1,414,930...1,426,241

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

PMID:16680105 PMID:21487926

NCBI chrNW_004955437:9,527,445...9,541,908

G

vascular endothelial growth factor B

NCBI chrNW_004955422:20,840,055...20,843,182
Ensembl chrNW_004955422:20,840,055...20,843,225

Reynolds Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lamin B receptor

ClinVar Annotator: match by term: PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA | ClinVar Annotator: match by term: Reynolds syndrome

PMID:18382993 PMID:20522425 PMID:24033266 PMID:25348816 PMID:25741868 More...

NCBI chrNW_004955520:401,733...418,279

severe nonproliferative diabetic retinopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

platelet derived growth factor receptor beta

NCBI chrNW_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587

telangiectasis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FERM domain containing kindlin 1

Kindler syndrome, OMIM:173650 DNA:point_mutation:CDS:C787T, amino acid Q263X

NCBI chrNW_004955415:16,447,921...16,483,221
Ensembl chrNW_004955415:16,446,934...16,483,369

G

histamine receptor H1

CTD Direct Evidence: therapeutic

NCBI chrNW_004955429:14,022,332...14,069,931
Ensembl chrNW_004955429:14,067,405...14,068,853

G

nitric oxide synthase 3

susceptibility

associated with radiation treatment of Breast Neoplasms;DNA:polymorphisms

NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814

thromboangiitis obliterans

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

advanced glycosylation end-product specific receptor

treatment

mRNA, protein:increased expression:femoral artery (rat)

NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479

G

corticotropin releasing hormone receptor 1

mRNA:increased expression:femoral artery (rat)

NCBI chrNW_004955478:10,380,185...10,390,838
Ensembl chrNW_004955478:10,379,287...10,404,825

G

elastin

protein:increased expression:blood:

NCBI chrNW_004955456:13,788,992...13,818,836

G

urocortin

NCBI chrNW_004955469:9,277,637...9,278,641
Ensembl chrNW_004955469:9,277,637...9,278,641

G

vascular cell adhesion molecule 1

protein:increased expression:femoral artery:

PMID:12086338 PMID:23069071

RGD:1580352 RGD:7207785

NCBI chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691

venous tributary occlusion of retina

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

integrin subunit alpha 2

no_association

DNA:snp:cds:g.807C>T (human)

NCBI chrNW_004955446:14,309,516...14,421,991
Ensembl chrNW_004955446:14,309,349...14,422,170

G

serpin family F member 1

protein:decreased expression:vitreous humor (human)

NCBI chrNW_004955481:1,414,930...1,426,436
Ensembl chrNW_004955481:1,414,930...1,426,241

Term paths to the root

Path 1
Term	Annotations
disease	16063
disease of anatomical entity	13820
cardiovascular system disease	4073
vascular disease	2851
peripheral vascular disease	343
Livedo Reticularis +	12
May-Thurner Syndrome	0
Raynaud disease +	7
Urethral Obstruction Sequence	0
blue toe syndrome	0
diabetic angiopathy +	170
erythromelalgia	4
mesenteric vascular occlusion	3
peripheral artery disease +	14
phlebitis +	1
priapism +	3
renal artery disease +	5
retinal vascular occlusion +	20
telangiectasis +	132
thromboangiitis obliterans	5

paths to the root