mineral metabolism 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:	mineral metabolism disease	go back to main search page
Accession:	DOID:0050032	browse the term
Definition:	An acquired metabolic disease that is characterized by abnormal mineral metabolism. (DO)
Synonyms:	primary_id:	RDO:9003951
	xref:	EFO:0009556

show annotations for term's descendants Sort by:
Rat (959) Mouse (961) Human (20532) Chinchilla (896) Bonobo (950) Dog (950) Squirrel (909) Pig (934) Green Monkey (939) Naked Mole-rat (899) All
Genes (961)

aceruloplasminemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RIKEN cDNA 3110082J24 gene

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chr 5:30,308,573...30,311,095
Ensembl chr 5:30,308,573...30,319,506

G

angiotensin II receptor, type 1a

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850

G

ankyrin repeat and ubiquitin domain containing 1

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chr 3:57,574,843...57,599,958
Ensembl chr 3:57,564,814...57,600,220

G

COMM domain containing 2

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chr 3:57,551,770...57,559,105
Ensembl chr 3:57,551,770...57,559,136

G

ceruloplasmin

ClinVar Annotator: match by term: CP-related condition | ClinVar Annotator: match by term: Deficiency of ferroxidase | ClinVar Annotator: match by term: Hypoceruloplasminemia
OMIM:604290
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:2016084 PMID:3574673 PMID:5675426 PMID:5912351 PMID:7539672 More...

NCBI chr 3:20,011,097...20,063,914
Ensembl chr 3:20,011,218...20,063,309

G

carboxypeptidase A3, mast cell

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chr 3:20,269,780...20,296,373
Ensembl chr 3:20,269,784...20,296,345

G

carboxypeptidase B1

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chr 3:20,303,643...20,339,681
Ensembl chr 3:20,302,428...20,329,897

G

glycogenin 1

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chr 3:20,176,248...20,209,228
Ensembl chr 3:20,176,248...20,209,481

G

helicase-like transcription factor

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chr 3:20,111,959...20,172,655
Ensembl chr 3:20,111,975...20,172,654

G

HPS3, biogenesis of lysosomal organelles complex 2 subunit 1

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:12351628 PMID:16629161 PMID:18414213 PMID:19095659 PMID:24033266 More...

NCBI chr 3:20,050,109...20,089,478
Ensembl chr 3:20,050,109...20,089,479

G

ring finger protein 13

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chr 3:57,643,468...57,742,846
Ensembl chr 3:57,643,483...57,742,654

G

solute carrier family 40 (iron-regulated transporter), member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:45,947,230...45,965,690
Ensembl chr 1:45,947,228...45,965,683

G

transmembrane 4 superfamily member 1

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chr 3:57,193,038...57,295,150
Ensembl chr 3:57,193,032...57,209,409
Ensembl chr 3:57,193,032...57,209,409

G

transmembrane 4 superfamily member 4

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chr 3:57,332,831...57,349,098
Ensembl chr 3:57,332,735...57,349,098

G

WW domain containing transcription regulator 1

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chr 3:57,363,065...57,483,331
Ensembl chr 3:57,363,070...57,483,331

Aicardi-Goutieres syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase, RNA-specific

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
DNA:mutations:exons:

CTD
ClinVar
MouseDO
RGD

PMID:9889202 PMID:19060901 PMID:20301648 PMID:23001123 PMID:24033266 More...

NCBI chr 3:89,622,321...89,660,756
Ensembl chr 3:89,622,329...89,660,753

G

ATR interacting protein

ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME

PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More...

NCBI chr 9:108,888,815...108,903,192
Ensembl chr 9:108,887,001...108,903,192

G

predicted gene, 53191

ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME

PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More...

NCBI chr 9:108,887,001...108,903,165
Ensembl chr 9:108,887,001...108,903,192

G

interferon induced with helicase C domain 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome

PMID:24686847 PMID:25741868

NCBI chr 2:62,426,137...62,476,599
Ensembl chr 2:62,426,142...62,476,599

G

K(lysine) acetyltransferase 5

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

NCBI chr19:5,653,042...5,661,584
Ensembl chr19:5,653,042...5,660,265

G

ribonuclease H2, large subunit

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

PMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 More...

NCBI chr 8:85,683,239...85,694,498
Ensembl chr 8:85,683,239...85,696,396

G

ribonuclease H2, subunit B

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome

PMID:16199547 PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 More...

NCBI chr14:62,569,517...62,610,445
Ensembl chr14:62,530,038...62,610,441

G

ribonuclease H2, subunit C

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 More...

NCBI chr19:5,651,901...5,652,987
Ensembl chr19:5,651,901...5,657,047

G

SAM domain and HD domain, 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More...

NCBI chr 2:156,939,454...156,977,016
Ensembl chr 2:156,939,453...156,977,185

G

TBC/LysM associated domain containing 2

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

PMID:25741868 PMID:28492532

NCBI chr 2:156,918,542...156,938,868
Ensembl chr 2:156,928,975...156,938,402

G

three prime repair exonuclease 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846

CTD
ClinVar
MouseDO

PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More...

NCBI chr 9:108,887,000...108,888,791
Ensembl chr 9:108,887,001...108,888,802

G

ubiquitin specific peptidase 18

CTD Direct Evidence: marker/mechanism

NCBI chr 6:121,222,865...121,247,876
Ensembl chr 6:121,222,865...121,247,876

Aicardi-Goutieres Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RIKEN cDNA 1700102P08 gene

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,270,023...108,275,416
Ensembl chr 9:108,270,004...108,288,133

G

adhesion molecule with Ig like domain 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,930,358...107,932,900
Ensembl chr 9:107,930,358...107,932,900

G

aminomethyltransferase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,174,104...108,179,501
Ensembl chr 9:108,174,052...108,179,501

G

acylpeptide hydrolase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,962,613...107,971,736
Ensembl chr 9:107,962,612...107,971,805

G

ariadne RBR E3 ubiquitin protein ligase 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,480,141...108,531,917
Ensembl chr 9:108,480,141...108,526,585

G

ATR interacting protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant

PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More...

NCBI chr 9:108,888,815...108,903,192
Ensembl chr 9:108,887,001...108,903,192

G

cDNA sequence BC048562

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,313,681...108,323,282
Ensembl chr 9:108,313,681...108,323,285

G

bassoon

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,973,221...108,067,618
Ensembl chr 9:107,973,221...108,067,583

G

CaM kinase-like vesicle-associated

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,813,097...107,826,882
Ensembl chr 9:107,812,873...107,826,890

G

coiled-coil domain containing 71

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,329,701...108,343,145
Ensembl chr 9:108,337,726...108,343,137

G

cadherin-related family member 4

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,869,656...107,876,880
Ensembl chr 9:107,869,696...107,876,883

G

cadherin, EGF LAG seven-pass G-type receptor 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,703,244...108,730,168
Ensembl chr 9:108,703,519...108,730,168

G

collagen, type VII, alpha 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,782,654...108,813,943
Ensembl chr 9:108,782,654...108,813,943

G

dystroglycan 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,082,060...108,141,176
Ensembl chr 9:108,081,833...108,141,157

G

DALR anticodon binding domain containing 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,444,710...108,449,972
Ensembl chr 9:108,447,085...108,449,973

G

DNA cross-link repair 1C

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:18223550 PMID:25741868 PMID:25917813 PMID:28492532

NCBI chr 2:3,425,112...3,475,248
Ensembl chr 2:3,425,168...3,465,167

G

predicted gene, 53191

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant

PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More...

NCBI chr 9:108,887,001...108,903,165
Ensembl chr 9:108,887,001...108,903,192

G

GDP-mannose pyrophosphorylase B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,926,490...107,929,119
Ensembl chr 9:107,926,441...107,930,000

G

G protein subunit alpha i2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,491,324...107,512,542
Ensembl chr 9:107,491,324...107,512,566

G

G protein subunit alpha transducin 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,551,636...107,556,833
Ensembl chr 9:107,551,673...107,556,911

G

glutathione peroxidase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542

G

hyaluronoglucosaminidase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,454,149...107,458,898
Ensembl chr 9:107,454,126...107,458,909

G

hyaluronoglucosaminidase 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,458,495...107,464,558
Ensembl chr 9:107,458,017...107,464,558

G

interferon-related developmental regulator 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,464,917...107,470,237
Ensembl chr 9:107,464,841...107,470,584

G

interactor of HORMAD1 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,280,691...108,309,040
Ensembl chr 9:108,280,810...108,305,683

G

inosine monophosphate dehydrogenase 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,437,635...108,442,776
Ensembl chr 9:108,437,485...108,442,783

G

inka box actin regulator 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,861,422...107,863,078
Ensembl chr 9:107,861,422...107,863,078

G

inositol hexaphosphate kinase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,879,847...107,925,981
Ensembl chr 9:107,879,700...107,925,981

G

inositol hexaphosphate kinase 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,660,928...108,683,532
Ensembl chr 9:108,660,995...108,683,536

G

kelch domain containing 8B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,324,834...108,338,780
Ensembl chr 9:108,324,835...108,338,780

G

laminin, beta 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,357,080...108,367,729
Ensembl chr 9:108,356,935...108,367,729

G

leucine-rich single-pass membrane protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,469,825...107,475,189
Ensembl chr 9:107,469,829...107,474,274

G

microRNA 191

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,445,518...108,445,591
Ensembl chr 9:108,445,518...108,445,591

G

MON1 homolog A, secretory traffciking associated

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,765,282...107,780,338
Ensembl chr 9:107,765,350...107,780,338

G

macrophage stimulating 1 (hepatocyte growth factor-like)

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,957,607...107,962,226
Ensembl chr 9:107,957,635...107,962,202

G

macrophage stimulating 1 receptor (c-met-related tyrosine kinase)

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,784,057...107,797,582
Ensembl chr 9:107,784,072...107,797,582

G

N(alpha)-acetyltransferase 80, NatH catalytic subunit

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,457,868...107,461,247
Ensembl chr 9:107,456,086...107,461,249

G

NCK interacting protein with SH3 domain

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,685,515...108,696,044
Ensembl chr 9:108,685,567...108,696,043

G

NADH:ubiquinone oxidoreductase complex assembly factor 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,442,786...108,444,635
Ensembl chr 9:108,442,736...108,444,633

G

nicolin 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,167,642...108,173,697
Ensembl chr 9:108,167,628...108,173,697

G

prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,456,025...108,475,482
Ensembl chr 9:108,456,061...108,474,866

G

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,817,336...108,861,302
Ensembl chr 9:108,820,846...108,861,296

G

protein kinase, cAMP dependent regulatory, type II alpha

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,569,342...108,627,643
Ensembl chr 9:108,566,513...108,627,635

G

glutaminyl-tRNA synthetase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,385,204...108,393,140
Ensembl chr 9:108,384,905...108,393,140

G

glutamine-rich 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,394,010...108,437,366
Ensembl chr 9:108,394,005...108,437,362

G

RNA binding motif protein 5

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,617,694...107,648,228
Ensembl chr 9:107,617,570...107,648,195

G

RNA binding motif protein 6

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,650,758...107,751,028
Ensembl chr 9:107,650,758...107,750,436

G

ras homolog family member A

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133

G

ribonuclease H2, subunit B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

NCBI chr14:62,569,517...62,610,445
Ensembl chr14:62,530,038...62,610,441

G

ring finger protein 123

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,928,869...107,957,183
Ensembl chr 9:107,928,733...107,960,545

G

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,474,868...107,486,440
Ensembl chr 9:107,474,873...107,486,428

G

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,558,698...107,587,674
Ensembl chr 9:107,558,699...107,587,674

G

shisa family member 5

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,867,635...108,886,860
Ensembl chr 9:108,867,633...108,886,845

G

solute carrier family 25 (mitochondrial carnitine/acylcarnitine translocase), member 20

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,539,335...108,561,841
Ensembl chr 9:108,539,287...108,561,840

G

solute carrier family 26, member 6

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,731,239...108,742,117
Ensembl chr 9:108,730,482...108,742,117

G

solute carrier family 38, member 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,528,353...107,546,167
Ensembl chr 9:107,527,833...107,546,729

G

T cell leukemia translocation altered gene

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,180,157...108,183,174
Ensembl chr 9:108,180,157...108,183,359

G

transmembrane protein 89

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,743,687...108,744,631
Ensembl chr 9:108,743,687...108,744,631

G

TRAF-interacting protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,828,158...107,849,469
Ensembl chr 9:107,827,335...107,849,469

G

three prime repair exonuclease 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant

PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More...

NCBI chr 9:108,887,000...108,888,791
Ensembl chr 9:108,887,001...108,888,802

G

ubiquitin-like modifier activating enzyme 7

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:107,852,766...107,861,255
Ensembl chr 9:107,852,704...107,861,259

G

urocortin 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,815,231...108,816,232
Ensembl chr 9:108,815,078...108,816,232

G

ubiquinol-cytochrome c reductase core protein 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,765,716...108,778,709
Ensembl chr 9:108,765,701...108,778,691

G

ubiquitin specific peptidase 19

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,367,806...108,379,536
Ensembl chr 9:108,367,801...108,379,536

G

ubiquitin specific peptidase 4 (proto-oncogene)

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,223,763...108,269,744
Ensembl chr 9:108,225,052...108,269,744

G

WD repeat domain 6

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 9:108,449,510...108,455,862
Ensembl chr 9:108,449,510...108,455,938

Aicardi-Goutieres Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ribonuclease H2, subunit B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition

PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More...

NCBI chr14:62,569,517...62,610,445
Ensembl chr14:62,530,038...62,610,441

Aicardi-Goutieres Syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RIKEN cDNA 1810055G02 gene

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:3,758,343...3,767,882
Ensembl chr19:3,758,293...3,767,881

G

RIKEN cDNA 2010003K11 gene

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,546,816...4,548,611
Ensembl chr19:4,546,816...4,548,611

G

actinin alpha 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,911,244...4,927,937
Ensembl chr19:4,911,244...4,927,937

G

aminoacylase 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,036,570...4,040,007
Ensembl chr19:4,036,570...4,040,007

G

expressed sequence AI837181

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,475,172...5,477,345
Ensembl chr19:5,475,172...5,477,341

G

aryl-hydrocarbon receptor-interacting protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,163,756...4,177,233
Ensembl chr19:4,164,446...4,175,858

G

aldehyde dehydrogenase 3 family, member B1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:3,963,491...3,980,898
Ensembl chr19:3,963,491...3,979,808

G

aldehyde dehydrogenase 3 family, member B3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,008,733...4,022,419
Ensembl chr19:4,008,645...4,022,103

G

ankyrin repeat domain 13 family, member D

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,320,208...4,333,165
Ensembl chr19:4,320,208...4,333,165

G

anoctamin 1, calcium activated chloride channel

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 7:144,142,286...144,305,762
Ensembl chr 7:144,142,286...144,305,711

G

adaptor-related protein complex 5, beta 1 subunit

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr19:5,610,278...5,621,290
Ensembl chr19:5,618,053...5,621,289

G

beta-1,4-glucuronyltransferase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,088,854...5,091,162
Ensembl chr19:5,088,854...5,091,159
Ensembl chr19:5,088,854...5,091,159

G

BAF nuclear assembly factor 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,414,661...5,416,904
Ensembl chr19:5,414,666...5,417,196

G

Bardet-Biedl syndrome 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,936,906...4,956,681
Ensembl chr19:4,936,906...4,956,656

G

breast cancer metastasis-suppressor 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,091,391...5,099,940
Ensembl chr19:5,091,382...5,099,945

G

calcium binding protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,131,469...4,137,340
Ensembl chr19:4,131,578...4,137,340

G

calcium binding protein 4

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,185,422...4,189,608
Ensembl chr19:4,185,422...4,194,032

G

calpain 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:6,038,573...6,065,855
Ensembl chr19:6,038,573...6,065,927

G

carnosine synthase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,214,323...4,227,390
Ensembl chr19:4,214,323...4,225,478

G

cation channel, sperm associated 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,385,643...5,394,309
Ensembl chr19:5,385,769...5,394,308

G

coiled-coil domain containing 85B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,503,191...5,507,591
Ensembl chr19:5,503,208...5,507,922

G

coiled-coil domain containing 87

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,889,394...4,892,556
Ensembl chr19:4,889,394...4,892,556

G

cyclin D1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662

G

copper chaperone for superoxide dismutase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,875,394...4,889,326
Ensembl chr19:4,875,394...4,889,360

G

CD248 antigen, endosialin

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,118,106...5,120,668
Ensembl chr19:5,118,106...5,120,710

G

CDC42 effector protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,967,584...5,974,844
Ensembl chr19:5,965,664...5,974,844

G

cyclin dependent kinase 2 associated protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,146,204...4,149,019
Ensembl chr19:4,147,182...4,149,019

G

cofilin 1, non-muscle

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr19:5,540,483...5,544,059
Ensembl chr19:5,540,483...5,545,229

G

choline kinase alpha

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:3,901,585...3,944,368
Ensembl chr19:3,901,773...3,944,369

G

cardiotrophin-like cytokine factor 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,264,479...4,273,548
Ensembl chr19:4,264,292...4,273,544

G

cornichon family AMPA receptor auxiliary protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,142,896...5,148,549
Ensembl chr19:5,142,896...5,148,549

G

coronin, actin binding protein 1B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,198,610...4,204,034
Ensembl chr19:4,198,618...4,204,034

G

carnitine palmitoyltransferase 1a, liver

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:3,372,328...3,435,735
Ensembl chr19:3,372,334...3,435,733

G

cystatin E/M

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,394,733...5,399,602
Ensembl chr19:5,394,733...5,399,602

G

cathepsin F

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,905,153...4,910,946
Ensembl chr19:4,905,158...4,910,946

G

cathepsin W

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,515,071...5,518,558
Ensembl chr19:5,515,071...5,518,535

G

double PHD fingers 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,946,544...5,962,899
Ensembl chr19:5,946,544...5,963,038

G

dipeptidylpeptidase 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,957,257...4,978,315
Ensembl chr19:4,957,257...4,978,315

G

DR1 associated protein 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,472,832...5,475,007
Ensembl chr19:5,472,833...5,475,007

G

epidermal growth factor-containing fibulin-like extracellular matrix protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr19:5,523,974...5,532,548
Ensembl chr19:5,523,982...5,532,545

G

EH domain binding protein 1-like 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr19:5,757,397...5,776,504
Ensembl chr19:5,757,404...5,776,345

G

eukaryotic translation initiation factor 1A domain containing

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,416,841...5,421,546
Ensembl chr19:5,416,769...5,421,554

G

Fas associated via death domain

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 7:144,132,060...144,136,178
Ensembl chr 7:144,131,055...144,136,200

G

family with sequence similarity 89, member B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr19:5,778,115...5,779,694
Ensembl chr19:5,778,115...5,779,681

G

fibroblast growth factor 15

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 7:144,450,269...144,454,690
Ensembl chr 7:144,450,268...144,454,690

G

fibroblast growth factor 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 7:144,392,349...144,397,085
Ensembl chr 7:144,391,820...144,398,173

G

fibroblast growth factor 4

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 7:144,415,123...144,418,982
Ensembl chr 7:144,401,104...144,418,980

G

fibroblast growth factor (acidic) intracellular binding protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,510,626...5,515,080
Ensembl chr19:5,510,643...5,515,079

G

fos-like antigen 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,497,726...5,505,966
Ensembl chr19:5,497,575...5,505,974

G

FERM domain containing 8

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,901,002...5,925,297
Ensembl chr19:5,899,730...5,925,302

G

galanin and GMAP prepropeptide

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:3,459,915...3,464,544
Ensembl chr19:3,459,915...3,464,544

G

galactose-3-O-sulfotransferase 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,348,359...5,358,767
Ensembl chr19:5,348,359...5,358,766

G

predicted gene 21992

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,792,941...4,861,662
Ensembl chr19:4,792,941...4,861,640

G

G protein-coupled receptor 152

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,189,798...4,195,740
Ensembl chr19:4,189,786...4,195,739

G

G protein-coupled receptor kinase 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,336,029...4,356,356
Ensembl chr19:4,336,029...4,356,250

G

glutathione S-transferase, pi 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985

G

immunoglobulin mu DNA binding protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:3,309,076...3,333,011
Ensembl chr19:3,309,076...3,333,017

G

K(lysine) acetyltransferase 5

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:25741868 PMID:28492532 PMID:28600438

NCBI chr19:5,653,042...5,661,584
Ensembl chr19:5,653,042...5,660,265

G

potassium channel, subfamily K, member 7

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr19:5,754,471...5,757,956
Ensembl chr19:5,754,395...5,757,137

G

lysine (K)-specific demethylase 2A

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,366,172...4,448,749
Ensembl chr19:4,364,447...4,448,313

G

kinesin light chain 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,157,774...5,168,326
Ensembl chr19:5,157,774...5,168,588

G

lysine methyltransferase 5B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:3,816,436...3,868,303
Ensembl chr19:3,817,421...3,868,303

G

leucine rich repeat and fibronectin type III domain containing 4

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,661,817...4,665,720
Ensembl chr19:4,661,813...4,665,695

G

low density lipoprotein receptor-related protein 5

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:3,634,825...3,736,574
Ensembl chr19:3,634,828...3,736,564

G

latent transforming growth factor beta binding protein 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560

G

ABCE maturation factor

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 7:144,468,882...144,485,989
Ensembl chr 7:144,468,837...144,485,438

G

metastasis associated lung adenocarcinoma transcript 1 (non-coding RNA)

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,845,718...5,852,700
Ensembl chr19:5,845,717...5,853,602

G

mitogen-activated protein kinase kinase kinase 11

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr19:5,738,764...5,752,893
Ensembl chr19:5,738,770...5,752,893

G

MAS-related GPR, member D

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 7:144,868,572...144,877,796
Ensembl chr 7:144,868,572...144,877,823

G

MAS-related GPR, member F

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 7:144,854,646...144,863,294
Ensembl chr 7:144,854,565...144,863,294

G

mitochondrial ribosomal protein L11

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,012,180...5,017,023
Ensembl chr19:5,012,175...5,017,027

G

mitochondrial ribosomal protein L21

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:3,332,997...3,342,837
Ensembl chr19:3,332,901...3,342,837

G

MUS81 structure-specific endonuclease subunit

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr19:5,532,589...5,538,461
Ensembl chr19:5,532,373...5,538,430

G

NADH:ubiquinone oxidoreductase core subunit S8

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:3,958,863...3,962,774
Ensembl chr19:3,958,863...3,962,774

G

NADH:ubiquinone oxidoreductase core subunit V1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,057,499...4,062,755
Ensembl chr19:4,057,384...4,062,806

G

nuclear paraspeckle assembly transcript 1 (non-protein coding)

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,874,736...5,895,508
Ensembl chr19:5,874,736...5,897,132

G

neuronal PAS domain protein 4

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,034,381...5,053,467
Ensembl chr19:5,034,383...5,040,344

G

nudix hydrolase 8

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,050,580...4,052,102
Ensembl chr19:4,050,580...4,052,103

G

ovo like zinc finger 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr19:5,599,165...5,610,603
Ensembl chr19:5,599,164...5,610,674

G

phosphofurin acidic cluster sorting protein 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,183,714...5,323,138
Ensembl chr19:5,183,186...5,323,147

G

pecanex homolog 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr19:5,714,663...5,739,036
Ensembl chr19:5,714,663...5,738,936

G

pyruvate carboxylase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,560,500...4,671,780
Ensembl chr19:4,560,500...4,671,780

G

pellino 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,979,745...4,993,155
Ensembl chr19:4,979,745...4,993,155

G

phosphatidylinositol transfer protein, membrane-associated 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,150,012...4,163,966
Ensembl chr19:4,149,998...4,163,965

G

polymerase (DNA directed), alpha 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,990,574...6,014,266
Ensembl chr19:5,990,570...6,014,230

G

polymerase (DNA-directed), delta 4

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,281,947...4,283,688
Ensembl chr19:4,281,953...4,283,688

G

protein phosphatase 1 catalytic subunit alpha

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,242,173...4,245,418
Ensembl chr19:4,242,064...4,245,419

G

protein phosphatase 6, regulatory subunit 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:3,504,928...3,626,191
Ensembl chr19:3,504,928...3,625,749

G

protein tyrosine phosphatase receptor type C polypeptide-associated protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,204,645...4,206,709
Ensembl chr19:4,203,603...4,206,750

G

RAB1B, member RAS oncogene family

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,149,235...5,157,024
Ensembl chr19:5,149,233...5,157,100

G

RAD9 checkpoint clamp component A

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,245,195...4,251,710
Ensembl chr19:4,245,195...4,251,661

G

RNA binding motif protein 14

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,850,594...4,861,662
Ensembl chr19:4,850,597...4,861,662

G

RNA binding motif protein 4

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,834,321...4,844,037
Ensembl chr19:4,834,321...4,843,929

G

RNA binding motif protein 4B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,806,480...4,816,199
Ensembl chr19:4,806,525...4,817,093

G

Ras converting CAAX endopeptidase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,672,621...4,675,673
Ensembl chr19:4,672,619...4,675,669

G

v-rel reticuloendotheliosis viral oncogene homolog A (avian)

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158

G

ras homolog family member D

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,473,500...4,489,562
Ensembl chr19:4,475,487...4,489,460

G

Ras and Rab interactor 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,100,035...5,107,100
Ensembl chr19:5,100,509...5,107,099

G

ribonuclease H2, subunit C

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More...

NCBI chr19:5,651,901...5,652,987
Ensembl chr19:5,651,901...5,657,047

G

ribosomal protein S6 kinase, polypeptide 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,206,791...4,213,382
Ensembl chr19:4,203,990...4,213,353

G

squamous cell carcinoma antigen recognized by T cells 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,427,551...5,438,731
Ensembl chr19:5,427,551...5,438,731

G

SCY1-like 1 (S. cerevisiae)

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,808,450...5,821,461
Ensembl chr19:5,808,379...5,821,447

G

splicing factor 3b, subunit 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,323,949...5,345,485
Ensembl chr19:5,323,960...5,345,483

G

signal-induced proliferation associated gene 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr19:5,701,211...5,713,758
Ensembl chr19:5,701,213...5,713,735

G

solute carrier family 25, member 45

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,927,828...5,935,796
Ensembl chr19:5,927,836...5,935,906

G

solute carrier family 29 (nucleoside transporters), member 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,069,085...5,082,000
Ensembl chr19:5,073,888...5,082,000

G

sorting nexin 32

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr19:5,545,302...5,560,741
Ensembl chr19:5,542,263...5,560,566

G

spectrin beta, non-erythrocytic 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,761,236...4,804,006
Ensembl chr19:4,761,195...4,802,388

G

slingshot protein phosphatase 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,311,696...4,319,261
Ensembl chr19:4,311,696...4,319,208

G

synaptotagmin XII

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,495,936...4,527,171
Ensembl chr19:4,495,936...4,527,475

G

TBC1 domain family, member 10c

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,234,356...4,241,194
Ensembl chr19:4,233,410...4,241,283

G

T-box 10

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,042,752...4,049,512
Ensembl chr19:4,042,752...4,049,512

G

T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:3,946,050...3,957,717
Ensembl chr19:3,946,050...3,957,133

G

testis expressed metallothionein like

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:3,438,857...3,457,823
Ensembl chr19:3,438,857...3,457,823

G

tigger transposable element derived 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,941,166...5,944,156
Ensembl chr19:5,941,166...5,944,177

G

transmembrane protein 134

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,175,960...4,182,306
Ensembl chr19:4,175,934...4,182,306

G

transmembrane protein 151A

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,120,859...5,135,519
Ensembl chr19:5,120,887...5,135,559

G

TOP6B like initiator of meiotic double strand breaks

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,675,758...4,748,753
Ensembl chr19:4,675,762...4,748,696

G

two pore segment channel 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 7:144,735,370...144,837,743
Ensembl chr 7:144,740,261...144,837,748

G

testis specific 10 interacting protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,440,075...5,452,534
Ensembl chr19:5,440,077...5,452,554

G

unc-93 homolog B1, TLR signaling regulator

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:3,985,222...3,999,340
Ensembl chr19:3,985,186...3,999,340

G

Yip1 interacting factor homolog A (S. cerevisiae)

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:5,138,566...5,142,907
Ensembl chr19:5,138,566...5,142,909

G

zinc finger, DHHC domain containing 24

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr19:4,928,696...4,935,425
Ensembl chr19:4,928,696...4,935,425

G

zinc ribbon domain containing 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr19:5,780,334...5,781,760
Ensembl chr19:5,780,331...5,781,760
Ensembl chr19:5,780,331...5,781,760

Aicardi-Goutieres Syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bestrophin 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,733,831...85,741,160
Ensembl chr 8:85,733,831...85,741,160

G

calcium channel, voltage-dependent, P/Q type, alpha 1A subunit

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875

G

calreticulin

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563

G

DAN domain family member 5, BMP antagonist

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,542,034...85,558,894
Ensembl chr 8:85,542,033...85,559,038

G

deoxyhypusine synthase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,798,106...85,801,790
Ensembl chr 8:85,798,386...85,801,791

G

deoxyribonuclease II alpha

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,635,384...85,638,332
Ensembl chr 8:85,635,189...85,649,544

G

phenylalanyl-tRNA synthetase, alpha subunit

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,583,597...85,595,886
Ensembl chr 8:85,583,618...85,595,886

G

F-box and WD-40 domain protein 9

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,786,748...85,793,750
Ensembl chr 8:85,786,684...85,793,753

G

growth arrest and DNA-damage-inducible, gamma interacting protein 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,558,911...85,562,111
Ensembl chr 8:85,558,151...85,562,111

G

glutaryl-Coenzyme A dehydrogenase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,613,016...85,629,378
Ensembl chr 8:85,613,022...85,620,550

G

guided entry of tail-anchored proteins factor 3, ATPase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,744,558...85,751,916
Ensembl chr 8:85,744,560...85,751,910

G

hook microtubule tethering protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,715,402...85,729,981
Ensembl chr 8:85,717,232...85,729,978

G

immediate early response 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,387,960...85,389,481
Ensembl chr 8:85,387,960...85,389,483

G

jun B proto-oncogene

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,703,538...85,705,377
Ensembl chr 8:85,701,113...85,705,347

G

Kruppel-like transcription factor 1 (erythroid)

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,628,611...85,631,920
Ensembl chr 8:85,628,557...85,631,924

G

lymphoblastomic leukemia 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,428,051...85,432,876
Ensembl chr 8:85,428,078...85,431,569

G

mannosidase 2, alpha B1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,809,941...85,824,215
Ensembl chr 8:85,809,899...85,824,911

G

microtubule associated serine/threonine kinase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,638,482...85,672,811
Ensembl chr 8:85,638,532...85,663,988

G

nucleus accumbens associated 1, BEN and BTB (POZ) domain containing

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,397,106...85,414,528
Ensembl chr 8:85,397,108...85,414,531

G

nuclear factor I/X

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,431,341...85,527,086
Ensembl chr 8:85,426,505...85,526,973

G

peroxiredoxin 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,696,251...85,701,440
Ensembl chr 8:85,696,216...85,701,463

G

RAD23 homolog A, nucleotide excision repair protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,561,540...85,567,361
Ensembl chr 8:85,560,648...85,567,294

G

ribonuclease H2, large subunit

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:10371528 PMID:10699052 PMID:11854167 PMID:15870678 More...

NCBI chr 8:85,683,239...85,694,498
Ensembl chr 8:85,683,239...85,696,396

G

retbindin

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,672,880...85,683,235
Ensembl chr 8:85,673,620...85,683,232

G

synaptonemal complex central element protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,598,740...85,614,075
Ensembl chr 8:85,598,740...85,614,850

G

transportin 2 (importin 3, karyopherin beta 2b)

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,763,502...85,784,214
Ensembl chr 8:85,763,544...85,784,212

G

telomerase RNA component interacting RNase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,753,440...85,756,920
Ensembl chr 8:85,753,452...85,756,915

G

tRNA methyltransferase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,412,953...85,426,437
Ensembl chr 8:85,412,936...85,426,437

G

WD repeat domain containing 83

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,801,664...85,807,375
Ensembl chr 8:85,801,664...85,807,935

G

WD repeat domain 83 opposite strand

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr 8:85,807,592...85,808,968
Ensembl chr 8:85,807,369...85,808,968

Aicardi-Goutieres Syndrome 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bladder cancer associated protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr 2:157,398,282...157,408,281
Ensembl chr 2:157,398,282...157,413,194

G

catenin, beta like 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr 2:157,579,321...157,733,823
Ensembl chr 2:157,579,321...157,733,534

G

growth hormone releasing hormone

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr 2:157,171,416...157,190,645
Ensembl chr 2:157,171,417...157,189,426

G

mannosidase, beta A, lysosomal-like

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr 2:157,209,514...157,238,683
Ensembl chr 2:157,209,514...157,238,683

G

maestro heat-like repeat family member 8

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr 2:157,050,468...157,121,612
Ensembl chr 2:157,050,470...157,121,469

G

neuronatin

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr 2:157,401,936...157,404,445
Ensembl chr 2:157,401,998...157,404,442

G

RB transcriptional corepressor like 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr 2:156,987,813...157,046,454
Ensembl chr 2:156,987,813...157,046,454

G

ribophorin II

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr 2:157,121,018...157,168,238
Ensembl chr 2:157,120,937...157,168,239

G

SAM domain and HD domain, 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More...

NCBI chr 2:156,939,454...156,977,016
Ensembl chr 2:156,939,453...156,977,185

G

Rous sarcoma oncogene

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr 2:157,265,828...157,313,758
Ensembl chr 2:157,260,364...157,313,782

G

TBC/LysM associated domain containing 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

PMID:25741868 PMID:28492532

NCBI chr 2:156,918,542...156,938,868
Ensembl chr 2:156,928,975...156,938,402

Aicardi-Goutieres Syndrome 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase, RNA-specific

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6

PMID:9536098 PMID:9889202 PMID:15146470 PMID:15489923 PMID:15955093 More...

NCBI chr 3:89,622,321...89,660,756
Ensembl chr 3:89,622,329...89,660,753

Aicardi-Goutieres Syndrome 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon induced with helicase C domain 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 | ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19264985 PMID:19324880 More...

NCBI chr 2:62,426,137...62,476,599
Ensembl chr 2:62,426,142...62,476,599

Aicardi-Goutieres Syndrome 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

U7 snRNP-specific Sm-like protein LSM11

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8

NCBI chr11:45,819,096...45,835,762
Ensembl chr11:45,819,096...45,835,762

Aicardi-Goutieres Syndrome 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gene rich cluster, C10 gene

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9

PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297

NCBI chr 6:124,716,146...124,718,032
Ensembl chr 6:124,716,146...124,718,337

amelogenesis imperfecta type 1G

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FAM20A, golgi associated secretory pathway pseudokinase

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction

PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More...

NCBI chr11:109,563,752...109,613,989
Ensembl chr11:109,560,575...109,613,105

G

protein kinase, cAMP dependent regulatory, type I, alpha

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction

PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More...

NCBI chr11:109,539,849...109,560,489
Ensembl chr11:109,540,231...109,560,482

Aortic Calcification

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

advanced glycosylation end product-specific receptor

associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat)

RGD

NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910

G

angiotensinogen

RGD

NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445

G

ATP synthase F1 subunit delta

treatment

associated with Hypercholesterolemia

RGD

NCBI chr10:79,974,451...79,981,662
Ensembl chr10:79,974,466...79,981,652

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

RGD

NCBI chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057

G

gastrin releasing peptide

treatment

associated with chronic kidney disease

RGD

NCBI chr18:66,005,826...66,019,670
Ensembl chr18:66,005,891...66,019,667

G

gelsolin

disease_progression

protein:decreased expression:blood (human)

RGD

NCBI chr 2:35,146,371...35,197,914
Ensembl chr 2:35,146,392...35,197,904

G

superoxide dismutase 1, soluble

associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta

RGD

NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217

G

superoxide dismutase 2, mitochondrial

associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta

RGD

NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950

G

vitamin K epoxide reductase complex, subunit 1

susceptibility

DNA:missense mutation: :p.Y139C (416A>G) (rat)

RGD

NCBI chr 7:127,492,235...127,494,833
Ensembl chr 7:127,485,399...127,494,626
Ensembl chr 7:127,485,399...127,494,626

aortic valve disease 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen, type V, alpha 1

ClinVar Annotator: match by term: Aortic valve disease 1

PMID:25741868 PMID:28074886 PMID:28492532 PMID:30858776 PMID:31903434 More...

NCBI chr 2:27,776,393...27,929,522
Ensembl chr 2:27,776,437...27,929,526

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

mRNA:increased expression:aorta (rat)

RGD

NCBI chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057

G

GATA binding protein 5

ClinVar Annotator: match by term: Aortic valve disease 1

PMID:25741868 PMID:28387797 PMID:28492532 PMID:30675029

NCBI chr 2:179,966,881...179,977,296
Ensembl chr 2:179,966,926...179,976,492

G

interleukin 6

severity

RGD

NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979

G

notch 1

DNA:nonsense mutation, deletion:cds:p.R1108X, p.H1505Xfs (human)
ClinVar Annotator: match by term: Aortic valve disease 1 | ClinVar Annotator: match by term: NOTCH1-related condition

ClinVar
OMIM
RGD

PMID:9536098 PMID:15472075 PMID:16025100 PMID:16614245 PMID:16729972 More...

NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675

G

SMAD family member 6

ClinVar Annotator: match by term: Aortic valve disease 1

PMID:28492532 PMID:30796334

NCBI chr 9:63,860,358...63,929,374
Ensembl chr 9:63,860,358...63,929,341

G

T-box 20

ClinVar Annotator: match by term: Aortic valve disease 1

PMID:19762328 PMID:25741868 PMID:27510170 PMID:27642787 PMID:28553164 More...

NCBI chr 9:24,632,108...24,685,580
Ensembl chr 9:24,629,434...24,685,599

arterial calcification of infancy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP-binding cassette, sub-family C member 6

CTD Direct Evidence: marker/mechanism

NCBI chr 7:45,625,804...45,679,915
Ensembl chr 7:45,616,979...45,679,726

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

DNA:missense mutations:cds:p.G342V, p.Y371F (human)
ClinVar Annotator: match by term: Idiopathic infantile arterial calcification
CTD Direct Evidence: marker/mechanism
OMIM:208000 | OMIM:614473
DNA:missense mutation:cds:p.V246D (mouse)
DNA:missense mutations, nonsense mutations, frameshift mutation:cds:multiple (human)
DNA:mutations:multiple (human)

ClinVar
CTD
MouseDO
RGD

PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 More...

RGD:1601044, RGD:13204734, RGD:731203, RGD:6906932

NCBI chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057

autosomal dominant hypocalcemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amelogenin, X-linked

RGD

NCBI chr X:167,959,110...167,970,205
Ensembl chr X:167,959,110...167,970,196

G

bone gamma carboxyglutamate protein

RGD

NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771

G

calcium-sensing receptor

DNA:missense mutation:cds:p.E128A (human)
ClinVar Annotator: match by term: Autosomal dominant hypocalcemia
DNA:missense mutation:cds:p.T151M (human)
DNA:missense mutation:cds:p.L723Q (mouse)
DNA:missense mutations:cds:multiple (human)

PMID:8675635 PMID:8878438 PMID:9039332 PMID:11136551 PMID:11701698 More...

RGD:1598940, RGD:7205656, RGD:7205497, RGD:7204717

NCBI chr16:36,310,947...36,382,605
Ensembl chr16:36,314,058...36,382,503

G

cytochrome P450, family 27, subfamily b, polypeptide 1

RGD

NCBI chr10:126,884,115...126,891,897
Ensembl chr10:126,884,119...126,888,875

G

parathyroid hormone

protein:increased expression:serum (rat)

RGD

NCBI chr 7:112,984,783...112,987,879
Ensembl chr 7:112,984,787...112,987,777

autosomal dominant hypocalcemia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium-sensing receptor

susceptibility

OMIM:601198
ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1 | ClinVar Annotator: match by term: HYPOCALCEMIA, FAMILIAL

MouseDO
ClinVar
OMIM

PMID:791660 PMID:1302026 PMID:1706284 PMID:7054696 PMID:7726161 More...

NCBI chr16:36,310,947...36,382,605
Ensembl chr16:36,314,058...36,382,503

autosomal dominant hypocalcemia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

guanine nucleotide binding protein, alpha 11

ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 2 | ClinVar Annotator: match by term: GNA11-related condition
OMIM:615361

OMIM
ClinVar
MouseDO

PMID:6278146 PMID:23802516 PMID:23802536 PMID:24823460 PMID:25741868 More...

NCBI chr10:81,364,558...81,380,996
Ensembl chr10:81,364,558...81,381,024

Autosomal Dominant Hypocalcemia, with Bartter Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium-sensing receptor

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome

PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 More...

NCBI chr16:36,310,947...36,382,605
Ensembl chr16:36,314,058...36,382,503

autosomal dominant hypophosphatemic rickets

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 23

DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT
OMIM:193100
DNA:missense mutation:cds:526C>T,p.R176W (human)

CTD
ClinVar
MouseDO
OMIM
RGD

PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More...

RGD:1598933, RGD:10044239

NCBI chr 6:127,049,865...127,059,257
Ensembl chr 6:127,049,865...127,058,371

G

phosphate regulating endopeptidase homolog, X-linked

ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets

PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 More...

NCBI chr X:155,945,071...156,198,282
Ensembl chr X:155,945,071...156,198,308

autosomal recessive hypophosphatemic rickets

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dentin matrix protein 1

OMIM:241520 | OMIM:613312
ClinVar Annotator: match by term: DMP1-related condition | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive

MouseDO
ClinVar

PMID:25741868 PMID:28492532

NCBI chr 5:104,345,441...104,361,968
Ensembl chr 5:104,350,479...104,361,968

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive

PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 More...

NCBI chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057

basal ganglia calcification

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myogenesis regulating glycosidase (putative)

OMIM:114100 | OMIM:213600 | OMIM:615007 | OMIM:615483

NCBI chr 4:41,495,601...41,503,132
Ensembl chr 4:41,495,604...41,503,076

G

platelet derived growth factor receptor, beta polypeptide

OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483

NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133

G

solute carrier family 20, member 2

OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483

NCBI chr 8:22,966,771...23,059,632
Ensembl chr 8:22,966,804...23,059,628

Calcification of Aortic Valve

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thymoma viral proto-oncogene 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318

G

CD40 ligand

treatment

RGD

NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402

G

delta like canonical Notch ligand 4

ameliorates

RGD

NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443

G

heat shock protein 1 (chaperonin)

severity

RGD

NCBI chr 1:55,116,992...55,127,402
Ensembl chr 1:55,116,994...55,127,402

G

Meis homeobox 2

mRNA,protein:decreased expression:aortic valve:

RGD

NCBI chr 2:115,691,745...115,897,925
Ensembl chr 2:115,693,545...115,896,320

G

notch 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675

G

prostaglandin-endoperoxide synthase 2

disease_progression

protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells

RGD

PMID:25722432 PMID:25722432

RGD:13207434, RGD:13207434

NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978

G

parathyroid hormone

disease_progression

protein:increased expression:serum (rat)

RGD

NCBI chr 7:112,984,783...112,987,879
Ensembl chr 7:112,984,787...112,987,777

G

protein tyrosine phosphatase, non-receptor type 1

protein:increased expression:aortic valve (human)

RGD

NCBI chr 2:167,772,670...167,821,305
Ensembl chr 2:167,773,977...167,821,305

G

solute carrier family 20, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:129,038,662...129,053,535
Ensembl chr 2:129,040,684...129,053,536

G

transformation related protein 53

CTD Direct Evidence: marker/mechanism

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

calcinosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-2-HS-glycoprotein

CTD Direct Evidence: marker/mechanism

NCBI chr16:22,710,793...22,718,193
Ensembl chr16:22,710,027...22,718,199

G

alkaline phosphatase, liver/bone/kidney

CTD Direct Evidence: marker/mechanism

NCBI chr 4:137,469,042...137,523,695
Ensembl chr 4:137,469,044...137,523,695

G

bone gamma carboxyglutamate protein

associated with hypertension;protein:undercarboxylated:serum
CTD Direct Evidence: marker/mechanism
protein:increased expression:dermis:

CTD
RGD

PMID:21335463 PMID:20197689 PMID:18422975

RGD:6483566, RGD:9068449

NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771

G

bone morphogenetic protein 2

CTD Direct Evidence: marker/mechanism

PMID:30963258 PMID:31843813

NCBI chr 2:133,394,079...133,404,816
Ensembl chr 2:133,394,079...133,404,805

G

bone morphogenetic protein 4

protein:increased expression:dermis:

RGD

NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126

G

complement component 6

CTD Direct Evidence: marker/mechanism

NCBI chr15:4,756,550...4,833,527
Ensembl chr15:4,756,657...4,844,449

G

caspase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

PMID:21193197 PMID:21335463

NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279

G

C-C motif chemokine ligand 6

CTD Direct Evidence: marker/mechanism

NCBI chr11:83,478,712...83,483,913
Ensembl chr11:83,478,708...83,483,913

G

collagen, type XVIII, alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382

G

collagen, type I, alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868

G

CTS telomere maintenance complex component 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:68,906,014...68,927,299
Ensembl chr11:68,906,737...68,927,299

G

catenin beta 1

protein:increased expression:dermis:

RGD

NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573

G

dystrophin, muscular dystrophy

CTD Direct Evidence: marker/mechanism

NCBI chr X:81,858,244...84,248,656
Ensembl chr X:81,992,476...84,249,747

G

erythropoietin

CTD Direct Evidence: marker/mechanism

NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504

G

erb-b2 receptor tyrosine kinase 2

associated with Breast Neoplasms;protein:increased expression:breast

RGD

NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542

G

Fc receptor, IgG, high affinity I

CTD Direct Evidence: marker/mechanism

NCBI chr 3:96,190,225...96,201,285
Ensembl chr 3:96,190,225...96,201,285

G

fibroblast growth factor 23

CTD Direct Evidence: marker/mechanism

NCBI chr 6:127,049,865...127,059,257
Ensembl chr 6:127,049,865...127,058,371

G

polypeptide N-acetylgalactosaminyltransferase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:65,913,110...65,955,217
Ensembl chr 2:65,913,110...65,955,338

G

glutathione peroxidase 1

susceptibility

associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P197L (human)

RGD

NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542

G

interleukin 18

CTD Direct Evidence: marker/mechanism

NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059

G

integrin beta 1 (fibronectin receptor beta)

CTD Direct Evidence: marker/mechanism

NCBI chr 8:129,412,135...129,460,060
Ensembl chr 8:129,412,135...129,459,681

G

integrin beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542

G

Janus kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480

G

klotho

CTD Direct Evidence: marker/mechanism

NCBI chr 5:150,876,072...150,917,282
Ensembl chr 5:150,876,072...150,917,282

G

lipocalin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264

G

lymphocyte specific 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:142,014,583...142,048,605
Ensembl chr 7:142,014,546...142,048,604

G

lymphocyte antigen 86

CTD Direct Evidence: marker/mechanism

NCBI chr13:37,529,276...37,603,012
Ensembl chr13:37,529,184...37,603,012

G

matrix Gla protein

RGD

NCBI chr 6:136,849,433...136,852,821
Ensembl chr 6:136,849,433...136,852,821

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

PMID:15545515 PMID:21193197

NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

PMID:15545515 PMID:21193197

NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770

G

notch 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675

G

nuclear receptor subfamily 1, group I, member 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:38,068,711...38,115,211
Ensembl chr16:38,068,685...38,115,186

G

platelet derived growth factor, B polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178

G

platelet derived growth factor receptor, beta polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133

G

pro-opiomelanocortin-alpha

CTD Direct Evidence: marker/mechanism

NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642

G

protein tyrosine phosphatase, non-receptor type 6

CTD Direct Evidence: marker/mechanism

NCBI chr 6:124,697,670...124,715,672
Ensembl chr 6:124,697,670...124,715,677

G

PYD and CARD domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr 7:127,590,545...127,593,039
Ensembl chr 7:127,588,880...127,593,039

G

receptor-interacting serine-threonine kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322

G

solute carrier family 20, member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:22,966,771...23,059,632
Ensembl chr 8:22,966,804...23,059,628

G

solute carrier family 22 (organic anion transporter), member 6

CTD Direct Evidence: marker/mechanism

NCBI chr19:8,595,360...8,605,663
Ensembl chr19:8,595,403...8,605,663

G

snail family zinc finger 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:14,523,716...14,527,259
Ensembl chr16:14,523,716...14,527,249

G

secreted acidic cysteine rich glycoprotein

protein:increased expression:dermis:

RGD

NCBI chr11:55,284,985...55,310,906
Ensembl chr11:55,285,326...55,314,009

G

sialophorin

CTD Direct Evidence: marker/mechanism

NCBI chr 7:126,731,404...126,743,785
Ensembl chr 7:126,731,404...126,736,995

G

secreted phosphoprotein 1

CTD Direct Evidence: marker/mechanism
protein:increased expression:dermis:

CTD
RGD

PMID:21193197 PMID:21335463 PMID:18390899 PMID:18422975

RGD:6903869, RGD:9068449

NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916

G

transforming growth factor, beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502

G

tissue inhibitor of metalloproteinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:20,736,524...20,740,972
Ensembl chr X:20,736,405...20,740,974

G

tissue inhibitor of metalloproteinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:118,191,887...118,246,237
Ensembl chr11:118,191,887...118,246,566

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983

G

transformation related protein 53

CTD Direct Evidence: marker/mechanism

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

G

xenotropic and polytropic retrovirus receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:155,151,403...155,293,190
Ensembl chr 1:155,151,447...155,293,161

Cerebroretinal Microangiopathy with Calcifications and Cysts

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CTS telomere maintenance complex component 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coats plus syndrome

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

NCBI chr11:68,906,014...68,927,299
Ensembl chr11:68,906,737...68,927,299

G

STN1, CST complex subunit

CTD Direct Evidence: marker/mechanism

NCBI chr19:47,489,470...47,534,284
Ensembl chr19:47,489,472...47,525,946

Cerebroretinal Microangiopathy with Calcifications and Cysts 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CTS telomere maintenance 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 chr11:68,906,014...68,927,299
Ensembl chr11:68,906,737...68,927,299

G

phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)

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

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

NCBI chr11:68,876,527...68,899,286
Ensembl chr11:68,876,523...68,899,286

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, CST complex subunit

ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 | ClinVar Annotator: match by term: STN1-related condition

PMID:25741868 PMID:27432940 PMID:28492532

NCBI chr19:47,489,470...47,534,284
Ensembl chr19:47,489,472...47,525,946

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 1A

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

PMID:27013236 PMID:28492532

NCBI chr 6:25,743,939...25,809,280
Ensembl chr 6:25,743,736...25,809,245

Cole Disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

ClinVar Annotator: match by term: Cole disease | ClinVar Annotator: match by term: GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION

PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More...

NCBI chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057

Coronary Artery Calcification

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphatase and actin regulator 1

DNA:SNP:intron:g.13011943A>G (rs9349379) (human)
associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human)
DNA:SNP:intron: (rs12526453) (human)

RGD

PMID:23394302 PMID:34241534 PMID:26789557 PMID:23561647

RGD:11058683, RGD:401901247, RGD:11054804, RGD:11057923

NCBI chr13:42,833,909...43,292,002
Ensembl chr13:42,834,099...43,292,002

G

tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)

severity

associated with Kidney Failure, Chronic

RGD

NCBI chr15:54,114,014...54,141,700
Ensembl chr15:54,114,015...54,141,880

CREST syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centromere protein C1

associated with Anticentromere antibody positivity

RGD

NCBI chr 5:86,159,877...86,214,325
Ensembl chr 5:86,159,883...86,213,442

G

fibrillin 1

RGD

NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913

diffuse idiopathic skeletal hyperostosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 29 (nucleoside transporters), member 1

OMIM:106400

NCBI chr17:45,896,126...45,910,544
Ensembl chr17:45,896,126...45,910,532

familial hypocalciuric hypercalcemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenylate cyclase 5

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:34,974,933...35,126,108
Ensembl chr16:34,975,247...35,126,108

G

calcium-sensing receptor

ClinVar Annotator: match by term: Familial benign hypercalcemia | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis

PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2476381 More...

NCBI chr16:36,310,947...36,382,605
Ensembl chr16:36,314,058...36,382,503

G

coiled-coil domain containing 14

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:34,510,940...34,545,574
Ensembl chr16:34,510,986...34,545,572

G

CD86 antigen

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443

G

cystatin A family member 2

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

PMID:11807402 PMID:20798521 PMID:28492532

NCBI chr16:36,041,932...36,077,813
Ensembl chr16:36,041,838...36,077,810

G

deltex 3-like, E3 ubiquitin ligase

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:35,746,885...35,759,397
Ensembl chr16:35,746,881...35,759,521

G

ELL associated factor 2

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:36,613,246...36,695,275
Ensembl chr16:36,613,246...36,695,365

G

family with sequence similarity 162, member A

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:35,864,214...35,891,931
Ensembl chr16:35,864,131...35,891,964

G

glyoxylate reductase/hydroxypyruvate reductase

ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis

PMID:25741868 PMID:28492532

NCBI chr 4:44,981,394...44,990,734
Ensembl chr 4:44,981,395...44,990,734

G

3-hydroxyacyl-CoA dehydratase 2

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:34,842,791...34,929,560
Ensembl chr16:34,842,798...34,929,547

G

heart development protein with EGF-like domains 1

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:33,504,754...33,591,946
Ensembl chr16:33,504,740...33,591,946

G

hypoxanthine phosphoribosyltransferase 1

ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis

PMID:11018746 PMID:23975452 PMID:25481104 PMID:28492532

NCBI chr X:52,076,955...52,110,537
Ensembl chr X:52,077,014...52,110,536

G

Hspb associated protein 1

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:35,590,009...35,648,832
Ensembl chr16:35,590,745...35,648,847

G

immunoglobulin-like domain containing receptor 1

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:36,514,340...36,547,166
Ensembl chr16:36,514,340...36,547,166

G

IQ calmodulin-binding motif containing 1

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:36,648,722...36,694,044
Ensembl chr16:36,648,747...36,693,083

G

integrin beta 5

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:33,650,021...33,769,708
Ensembl chr16:33,650,035...33,769,708

G

kalirin, RhoGEF kinase

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:33,789,443...34,393,647
Ensembl chr16:33,789,443...34,393,902

G

karyopherin subunit alpha 1

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:35,803,693...35,859,479
Ensembl chr16:35,799,120...35,857,501

G

mitochondrial matrix import factor 23

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:35,892,030...35,912,488
Ensembl chr16:35,892,055...35,912,490

G

mucin 13, epithelial transmembrane

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:33,614,407...33,640,299
Ensembl chr16:33,614,407...33,640,304

G

myosin, light polypeptide kinase

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:34,565,569...34,822,806
Ensembl chr16:34,565,580...34,822,790

G

OCRL, inositol polyphosphate-5-phosphatase

ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis

PMID:19390221 PMID:21031565 PMID:22381590 PMID:23047739 PMID:25326635 More...

NCBI chr X:47,001,289...47,055,305
Ensembl chr X:47,001,264...47,054,745

G

oxysterol binding protein-like 11

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:33,005,441...33,063,682
Ensembl chr16:33,005,441...33,063,682

G

poly (ADP-ribose) polymerase family, member 14

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:35,652,262...35,691,904
Ensembl chr16:35,653,244...35,691,914

G

poly (ADP-ribose) polymerase family, member 9

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:35,759,360...35,792,975
Ensembl chr16:35,758,840...35,792,975

G

protein disulfide isomerase associated 5

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:35,217,678...35,311,289
Ensembl chr16:35,217,682...35,311,243

G

phosphoribosyl pyrophosphate synthetase 1

ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis

PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr X:139,357,352...139,376,889
Ensembl chr X:139,357,362...139,376,889

G

ropporin, rhophilin associated protein 1

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:34,470,271...34,498,980
Ensembl chr16:34,470,291...34,498,988

G

SEC22 homolog A, vesicle trafficking protein

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:35,131,505...35,184,222
Ensembl chr16:35,131,501...35,184,288

G

sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:35,361,517...35,485,103
Ensembl chr16:35,361,515...35,485,102

G

solute carrier family 12 (potassium/chloride transporters), member 8

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:33,337,440...33,484,508
Ensembl chr16:33,337,698...33,484,505

G

solute carrier family 15 (H+/peptide transporter), member 2

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:36,570,523...36,605,506
Ensembl chr16:36,570,539...36,605,324

G

solute carrier family 49 member 4

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:35,514,432...35,589,740
Ensembl chr16:35,514,432...35,589,726

G

sorting nexin 4

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:33,071,826...33,119,932
Ensembl chr16:33,071,812...33,120,639

G

uridine monophosphate synthetase

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:33,775,152...33,787,408
Ensembl chr16:33,775,152...33,787,408

G

WD repeat domain 5B

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:35,861,560...35,863,344
Ensembl chr16:35,861,560...35,864,298

G

zinc finger protein 148

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr16:33,201,145...33,324,273
Ensembl chr16:33,201,206...33,324,733

familial hypocalciuric hypercalcemia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium-sensing receptor

susceptibility

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1
OMIM:145980
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.A213E (human)
DNA:missense mutations:cds:multiple (human)
DNA:missense mutations:cds:p.R186E, p.E298K, p.R796W (human)

ClinVar
OMIM
MouseDO
CTD
RGD

PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2211966 More...

RGD:7205436, RGD:7205499, RGD:7205440, RGD:1600616

NCBI chr16:36,310,947...36,382,605
Ensembl chr16:36,314,058...36,382,503

familial hypocalciuric hypercalcemia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

guanine nucleotide binding protein, alpha 11

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 | ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, type II

OMIM
CTD
ClinVar

PMID:9536098 PMID:17576681 PMID:23802516 PMID:23802536 PMID:25741868 More...

NCBI chr10:81,364,558...81,380,996
Ensembl chr10:81,364,558...81,381,024

familial hypocalciuric hypercalcemia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adaptor-related protein complex 2, sigma 1 subunit

ClinVar Annotator: match by term: AP2S1-related condition | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1524075 PMID:9536098 PMID:17576681 PMID:20133464 PMID:23222959 More...

NCBI chr 7:16,472,369...16,483,215
Ensembl chr 7:16,472,335...16,483,219

Familial Hypophosphatemic Rickets

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chloride channel, voltage-sensitive 5

CTD Direct Evidence: marker/mechanism

NCBI chr X:7,020,049...7,185,597
Ensembl chr X:7,020,049...7,185,597

G

phosphate regulating endopeptidase homolog, X-linked

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets

PMID:3414685 PMID:9097956 PMID:9199930 PMID:9430241 PMID:11414762 More...

NCBI chr X:155,945,071...156,198,282
Ensembl chr X:155,945,071...156,198,308

G

phytanoyl-CoA hydroxylase

ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT

PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More...

NCBI chr 2:4,923,807...4,943,554
Ensembl chr 2:4,923,830...4,943,541

G

trypsin 10

ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT

PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More...

NCBI chr 6:41,331,039...41,334,878
Ensembl chr 6:41,331,039...41,334,848

G

vitamin D (1,25-dihydroxyvitamin D3) receptor

ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets | ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT

PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More...

NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511

Generalized Arterial Calcification of Infancy, 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cellular communication network factor 2

ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1

NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1

PMID:8960499 PMID:9536098 PMID:9662402 PMID:10453738 PMID:10480624 More...

NCBI chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057

G

ectonucleotide pyrophosphatase/phosphodiesterase 3

ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1

NCBI chr10:24,649,712...24,712,093
Ensembl chr10:24,648,304...24,718,721

G

zinc finger protein 292

ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1

NCBI chr 4:34,803,110...34,882,982
Ensembl chr 4:34,803,113...34,882,960

Generalized Arterial Calcification of Infancy, 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP-binding cassette, sub-family C member 6

ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 2

PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More...

NCBI chr 7:45,625,804...45,679,915
Ensembl chr 7:45,616,979...45,679,726

GRACILE syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

ClinVar Annotator: match by term: GRACILE syndrome
CTD Direct Evidence: marker/mechanism
OMIM:603358

OMIM
ClinVar
CTD
MouseDO

PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More...

NCBI chr 1:74,627,448...74,631,602
Ensembl chr 1:74,627,448...74,631,602

G

tRNA serine 1, mitochondrial

ClinVar Annotator: match by term: neonatal lactic acidosis

PMID:25741868 PMID:32313153

NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938

Greenberg dysplasia

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: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia
DNA:mutations:cds:multiple (human)

OMIM
ClinVar
RGD

PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More...

NCBI chr 1:181,642,880...181,669,933
Ensembl chr 1:181,642,900...181,670,611

Heme Oxygenase 1 Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heme oxygenase 1

susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HMOX1-related condition | ClinVar Annotator: match by term: Heme oxygenase 1 deficiency

CTD
OMIM
ClinVar

PMID:9884342 PMID:16199547 PMID:21088618 PMID:22023467 PMID:25741868 More...

NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217

hemochromatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldo-keto reductase family 1, member D1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:37,506,913...37,551,856
Ensembl chr 6:37,507,108...37,545,750

G

aminolevulinate, delta-, dehydratase

treatment

RGD

NCBI chr 4:62,422,762...62,438,300
Ensembl chr 4:62,427,406...62,438,155

G

aminolevulinic acid synthase 2, erythroid

severity

DNA:mutation:cds:c.15599C>T,p.520L(human)

RGD

NCBI chr X:149,330,443...149,353,614
Ensembl chr X:149,330,371...149,353,634

G

beta-2 microglobulin

OMIM:231100

NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564

G

bone morphogenetic protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:133,394,079...133,404,816
Ensembl chr 2:133,394,079...133,404,805

G

bone morphogenetic protein 6

CTD Direct Evidence: marker/mechanism

PMID:19252486 PMID:19252488

NCBI chr13:38,529,098...38,684,283
Ensembl chr13:38,529,083...38,684,278

G

ceruloplasmin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:20,011,097...20,063,914
Ensembl chr 3:20,011,218...20,063,309

G

hepcidin antimicrobial peptide

juvenile hereditary hemochromatosis, HFE2B, OMIM:602390
ClinVar Annotator: match by term: Hemochromatosis, juvenile, digenic | ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:9536098 PMID:12915468 PMID:14630809 PMID:14670915 PMID:15024747 More...

NCBI chr 7:30,641,793...30,643,454
Ensembl chr 7:30,641,793...30,643,457

G

homeostatic iron regulator

ClinVar Annotator: match by term: HFE INTRONIC POLYMORPHISM | ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis
DNA:missense mutation: :p.C282Y (rs1800562) (human)
CTD Direct Evidence: marker/mechanism
associated with Immunologic Deficiency Syndromes;DNA:missense mutation: :p.C282Y (human)
DNA:missense mutation:cds:p.S65C (human)

ClinVar
CTD
RGD

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

RGD:7207252, RGD:14746965, RGD:10755540, RGD:8694411, RGD:8694372

NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837

G

hemojuvelin BMP co-receptor

juvenile hemochromatosis, type 2A, OMIM:602390
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16868025 PMID:17255318 PMID:19252486 PMID:21411349 PMID:14647275

NCBI chr 3:96,432,479...96,436,532
Ensembl chr 3:96,432,488...96,436,526

G

heme oxygenase 1

OMIM:231100

NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217

G

haptoglobin

CTD Direct Evidence: marker/mechanism

NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804

G

solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:100,285,779...100,322,090
Ensembl chr15:100,285,779...100,322,953

G

solute carrier family 40 (iron-regulated transporter), member 1

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

PMID:16457665 PMID:21411349 PMID:25741868

NCBI chr 1:45,947,230...45,965,690
Ensembl chr 1:45,947,228...45,965,683

G

transferrin receptor 2

hemochromatosis, type 3, HFE3, OMIM:604250
ClinVar Annotator: match by term: Hereditary hemochromatosis
ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:9536098 PMID:10802645 PMID:11102989 PMID:11313241 PMID:11358389 More...

NCBI chr 5:137,568,127...137,586,344
Ensembl chr 5:137,568,102...137,585,743

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:-238G>A (rs361525) (human)
DNA:SNP:promoter:-308G>A (human)

CTD
RGD

PMID:16793930 PMID:11389006 PMID:16793930

RGD:12904656, RGD:12904050

NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983

hemochromatosis type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 2

NCBI chr 2:133,394,079...133,404,816
Ensembl chr 2:133,394,079...133,404,805

G

hepcidin antimicrobial peptide

ClinVar Annotator: match by term: Hemochromatosis type 1

PMID:12915468 PMID:19214511 PMID:28492532

NCBI chr 7:30,641,793...30,643,454
Ensembl chr 7:30,641,793...30,643,457

G

homeostatic iron regulator

OMIM:235200
ClinVar Annotator: match by term: HFE-related condition | ClinVar Annotator: match by term: Hemochromatosis type 1

MouseDO
ClinVar
OMIM

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

NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837

G

hemojuvelin BMP co-receptor

ClinVar Annotator: match by term: Hemochromatosis type 1

PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 PMID:15138164 More...

NCBI chr 3:96,432,479...96,436,532
Ensembl chr 3:96,432,488...96,436,526

G

solute carrier family 40 (iron-regulated transporter), member 1

ClinVar Annotator: match by term: Hemochromatosis type 1

NCBI chr 1:45,947,230...45,965,690
Ensembl chr 1:45,947,228...45,965,683

G

transferrin receptor 2

ClinVar Annotator: match by term: Hemochromatosis type 1 | ClinVar Annotator: match by term: Hemochromatosis, type 1, modifier of

PMID:12150153 PMID:16424658 PMID:20301523 PMID:22890139 PMID:23600741 More...

NCBI chr 5:137,568,127...137,586,344
Ensembl chr 5:137,568,102...137,585,743

hemochromatosis type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hepcidin antimicrobial peptide

ClinVar Annotator: match by term: Juvenile hemochromatosis

NCBI chr 7:30,641,793...30,643,454
Ensembl chr 7:30,641,793...30,643,457

G

homeostatic iron regulator

ClinVar Annotator: match by term: Juvenile hemochromatosis

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

NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837

G

hemojuvelin BMP co-receptor

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

PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 PMID:15254010 More...

NCBI chr 3:96,432,479...96,436,532
Ensembl chr 3:96,432,488...96,436,526

hemochromatosis type 2A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat domain 34A

ClinVar Annotator: match by term: Hemochromatosis type 2A

NCBI chr 3:96,503,599...96,507,442
Ensembl chr 3:96,503,952...96,507,091

G

hepcidin antimicrobial peptide

ClinVar Annotator: match by term: Hemochromatosis, type 2a, modifier of

PMID:12915468 PMID:19214511 PMID:28492532

NCBI chr 7:30,641,793...30,643,454
Ensembl chr 7:30,641,793...30,643,457

G

hemojuvelin BMP co-receptor

OMIM:602390
ClinVar Annotator: match by term: HJV-related condition | ClinVar Annotator: match by term: Hemochromatosis type 2A

MouseDO
ClinVar
OMIM

PMID:12482411 PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 More...

NCBI chr 3:96,432,479...96,436,532
Ensembl chr 3:96,432,488...96,436,526

G

polymerase (RNA) III (DNA directed) polypeptide G like

ClinVar Annotator: match by term: Hemochromatosis type 2A

NCBI chr 3:96,485,188...96,501,497
Ensembl chr 3:96,485,188...96,501,497

G

thioredoxin interacting protein

ClinVar Annotator: match by term: Hemochromatosis type 2A

NCBI chr 3:96,465,273...96,469,173
Ensembl chr 3:96,465,273...96,469,199

hemochromatosis type 2B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hepcidin antimicrobial peptide

ClinVar Annotator: match by term: Hemochromatosis type 2B
CTD Direct Evidence: marker/mechanism
OMIM:613313

OMIM
ClinVar
CTD
MouseDO

PMID:12469120 PMID:12915468 PMID:15082576 PMID:15099344 PMID:15198949 More...

NCBI chr 7:30,641,793...30,643,454
Ensembl chr 7:30,641,793...30,643,457

hemochromatosis type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transferrin receptor 2

ClinVar Annotator: match by term: Hemochromatosis type 3 | ClinVar Annotator: match by term: Hereditary hemochromatosis type 3 | ClinVar Annotator: match by term: TFR2-related condition
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:Ala679Gly (rat)
OMIM:604250

OMIM
ClinVar
CTD
MouseDO
RGD

PMID:9536098 PMID:10802645 PMID:11102989 PMID:11313241 PMID:11358389 More...

NCBI chr 5:137,568,127...137,586,344
Ensembl chr 5:137,568,102...137,585,743

hemochromatosis type 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 40 (iron-regulated transporter), member 1

ClinVar Annotator: match by term: Hemochromatosis due to defect in ferroportin | ClinVar Annotator: match by term: Hemochromatosis type 4
CTD Direct Evidence: marker/mechanism
OMIM:606069

OMIM
ClinVar
CTD
MouseDO

PMID:9536098 PMID:11431687 PMID:11518736 PMID:12730114 PMID:12857562 More...

NCBI chr 1:45,947,230...45,965,690
Ensembl chr 1:45,947,228...45,965,683

hemochromatosis type 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bestrophin 1

ClinVar Annotator: match by term: Hemochromatosis type 5

PMID:14615048 PMID:25741868 PMID:28492532

NCBI chr19:9,962,536...9,978,997
Ensembl chr19:9,962,538...9,978,997

G

ferritin heavy polypeptide 1

ClinVar Annotator: match by term: Hemochromatosis type 5

PMID:11389486 PMID:14615048 PMID:25741868 PMID:28492532

NCBI chr19:9,957,964...9,962,475
Ensembl chr19:9,957,962...9,962,462

G

transferrin receptor 2

ClinVar Annotator: match by term: Hereditary hemochromatosis type 5

NCBI chr 5:137,568,127...137,586,344
Ensembl chr 5:137,568,102...137,585,743

Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

junction adhesion molecule 3

ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | ClinVar Annotator: match by term: JAM3-related condition

PMID:21109224 PMID:23255084 PMID:25741868 PMID:25741869 PMID:28492532 More...

NCBI chr 9:27,008,680...27,066,739
Ensembl chr 9:27,008,680...27,066,717

hemosiderosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ceruloplasmin

susceptibility

DNA:splice-site mutation

PMID:7539672 PMID:7539672

RGD:1599626, RGD:1599626

NCBI chr 3:20,011,097...20,063,914
Ensembl chr 3:20,011,218...20,063,309

hereditary arterial and articular multiple calcification syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

5' nucleotidase, ecto

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome | ClinVar Annotator: match by term: NT5E-related condition