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

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Genes (909)

aceruloplasminemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin II receptor type 1

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chrNW_004936519:6,831,096...6,873,977
Ensembl chrNW_004936519:6,831,096...6,873,985

G

ankyrin repeat and ubiquitin domain containing 1

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chrNW_004936758:300,670...325,668

G

COMM domain containing 2

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chrNW_004936758:284,285...294,817

G

ceruloplasmin

ClinVar Annotator: match by term: CP-related condition | ClinVar Annotator: match by term: Deficiency of ferroxidase | ClinVar Annotator: match by term: Hypoceruloplasminemia

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

NCBI chrNW_004936519:6,431,156...6,473,183
Ensembl chrNW_004936519:6,431,144...6,481,858

G

carboxypeptidase A3

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chrNW_004936519:6,692,466...6,718,480
Ensembl chrNW_004936519:6,692,513...6,718,425

G

carboxypeptidase B1

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chrNW_004936519:6,724,836...6,755,610
Ensembl chrNW_004936519:6,724,836...6,755,610

G

glycogenin 1

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chrNW_004936519:6,582,286...6,613,440
Ensembl chrNW_004936519:6,582,286...6,613,630

G

helicase like transcription factor

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chrNW_004936519:6,531,549...6,579,724
Ensembl chrNW_004936519:6,531,571...6,582,081

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 chrNW_004936519:6,470,077...6,530,897
Ensembl chrNW_004936519:6,466,212...6,499,101

G

ring finger protein 13

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chrNW_004936758:351,220...460,165
Ensembl chrNW_004936758:375,904...458,239

G

solute carrier family 40 member 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936506:8,396,593...8,415,069
Ensembl chrNW_004936506:8,396,912...8,416,374

G

transmembrane 4 L six family member 1

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chrNW_004936519:6,306,281...6,314,045
Ensembl chrNW_004936519:6,305,881...6,314,113

G

transmembrane 4 L six family member 18

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chrNW_004936519:6,361,059...6,374,639
Ensembl chrNW_004936519:6,361,047...6,373,895

G

transmembrane 4 L six family member 4

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chrNW_004936519:6,205,977...6,225,330
Ensembl chrNW_004936519:6,205,961...6,225,486

G

WW domain containing transcription regulator 1

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chrNW_004936758:101,629...225,496
Ensembl chrNW_004936758:101,620...225,525

Aicardi-Goutieres syndrome

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

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

NCBI chrNW_004936580:4,183,016...4,208,341
Ensembl chrNW_004936580:4,183,079...4,203,435

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 chrNW_004936529:245,134...264,456
Ensembl chrNW_004936529:245,092...264,351

G

interferon induced with helicase C domain 1

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

NCBI chrNW_004936469:16,721,306...16,778,249
Ensembl chrNW_004936469:16,721,677...16,774,903

G

lysine acetyltransferase 5

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

NCBI chrNW_004936599:3,767,526...3,775,416
Ensembl chrNW_004936599:3,766,242...3,776,128

G

ribonuclease H2 subunit A

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

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

NCBI chrNW_004936659:1,897,777...1,905,526
Ensembl chrNW_004936659:1,897,769...1,905,457

G

ribonuclease H2 subunit B

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

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

NCBI chrNW_004936565:3,791,305...3,839,991
Ensembl chrNW_004936565:3,791,329...3,840,016

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 chrNW_004936599:3,766,330...3,767,453
Ensembl chrNW_004936599:3,766,242...3,767,345

G

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

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

NCBI chrNW_004936561:4,180,607...4,238,623
Ensembl chrNW_004936561:4,180,546...4,229,036

G

TBC/LysM-associated domain containing 2

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

PMID:25741868 PMID:28492532

NCBI chrNW_004936561:4,229,945...4,241,425
Ensembl chrNW_004936561:4,230,257...4,241,425

G

three prime repair exonuclease 1

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 chrNW_004936529:264,535...266,451
Ensembl chrNW_004936529:264,468...266,422

G

ubiquitin specific peptidase 18

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936807:1,090,928...1,116,166
Ensembl chrNW_004936807:1,090,882...1,114,770

Aicardi-Goutieres Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adhesion molecule with Ig like domain 3

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,331,610...1,335,058
Ensembl chrNW_004936529:1,332,874...1,334,403

G

aminomethyltransferase

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,049,364...1,054,458

G

acylaminoacyl-peptide hydrolase

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,289,810...1,298,798
Ensembl chrNW_004936529:1,289,827...1,298,798

G

ariadne RBR E3 ubiquitin protein ligase 2

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:648,661...713,616
Ensembl chrNW_004936529:648,675...713,675

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 chrNW_004936529:245,134...264,456
Ensembl chrNW_004936529:245,092...264,351

G

bassoon presynaptic cytomatrix protein

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,182,872...1,287,794
Ensembl chrNW_004936529:1,182,810...1,280,657

G

CaM kinase like vesicle associated

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,466,460...1,479,798
Ensembl chrNW_004936529:1,464,716...1,479,808

G

coiled-coil domain containing 71

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:857,932...862,976
Ensembl chrNW_004936529:859,274...860,656

G

cadherin related family member 4

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,399,611...1,406,876
Ensembl chrNW_004936529:1,399,611...1,406,876

G

cadherin EGF LAG seven-pass G-type receptor 3

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:437,476...464,012
Ensembl chrNW_004936529:437,418...464,017

G

ciliary microtubule inner protein 7

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:872,150...884,123
Ensembl chrNW_004936529:872,837...884,879

G

collagen type VII alpha 1 chain

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:348,938...381,701

G

chromosome unknown C3orf62 homolog

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:934,641...940,858
Ensembl chrNW_004936529:936,848...940,367

G

dystroglycan 1

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,099,510...1,171,587
Ensembl chrNW_004936529:1,099,647...1,173,124

G

DALR anticodon binding domain containing 3

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:740,861...744,461
Ensembl chrNW_004936529:740,975...745,427

G

DNA cross-link repair 1C

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

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

NCBI chrNW_004936613:1,467,797...1,501,107
Ensembl chrNW_004936613:1,470,365...1,501,138

G

GDP-mannose pyrophosphorylase B

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,336,002...1,338,615
Ensembl chrNW_004936529:1,336,002...1,338,400

G

G protein subunit alpha i2

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,779,582...1,801,251
Ensembl chrNW_004936529:1,779,571...1,801,255

G

G protein subunit alpha transducin 1

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,735,258...1,740,297
Ensembl chrNW_004936529:1,735,440...1,742,567

G

glutathione peroxidase 1

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987

G

hyaluronidase 1

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,838,212...1,842,399
Ensembl chrNW_004936529:1,838,676...1,841,188

G

hyaluronidase 3

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,831,639...1,837,314
Ensembl chrNW_004936529:1,831,254...1,837,314

G

interferon related developmental regulator 2

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,825,107...1,831,112
Ensembl chrNW_004936529:1,823,679...1,830,879

G

interactor of HORMAD1 1

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:905,692...929,896
Ensembl chrNW_004936529:889,423...929,929

G

inosine monophosphate dehydrogenase 2

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:748,777...753,582
Ensembl chrNW_004936529:745,511...753,581

G

inka box actin regulator 1

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,410,244...1,412,023
Ensembl chrNW_004936529:1,410,201...1,412,023

G

inositol hexakisphosphate kinase 1

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,338,812...1,396,981
Ensembl chrNW_004936529:1,338,812...1,396,965

G

inositol hexakisphosphate kinase 2

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:487,277...515,614
Ensembl chrNW_004936529:486,879...515,674

G

kelch domain containing 8B

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:863,052...872,067
Ensembl chrNW_004936529:863,045...872,289

G

laminin subunit beta 2

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:826,178...841,304
Ensembl chrNW_004936529:826,142...841,337

G

cytochrome b-c1 complex subunit 1, mitochondrial

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:385,942...396,196
Ensembl chrNW_004936529:385,851...396,230

G

leucine rich single-pass membrane protein 2

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,819,848...1,825,472

G

MON1 homolog A, secretory trafficking associated

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,513,796...1,527,121
Ensembl chrNW_004936529:1,513,753...1,527,506

G

macrophage stimulating 1

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,298,853...1,306,088
Ensembl chrNW_004936529:1,299,300...1,303,959

G

macrophage stimulating 1 receptor

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,494,748...1,509,925
Ensembl chrNW_004936529:1,495,059...1,509,901

G

N-alpha-acetyltransferase 80, NatH catalytic subunit

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,834,308...1,837,248
Ensembl chrNW_004936529:1,834,349...1,837,182

G

NCK interacting protein with SH3 domain

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:474,978...485,333
Ensembl chrNW_004936529:471,913...485,389

G

NADH:ubiquinone oxidoreductase complex assembly factor 3

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:746,620...748,145
Ensembl chrNW_004936529:747,021...748,695

G

nicolin 1, tubulin polyglutamylase complex subunit

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,054,568...1,059,575
Ensembl chrNW_004936529:1,052,090...1,059,617

G

prolyl 4-hydroxylase, transmembrane

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:716,407...732,010
Ensembl chrNW_004936529:716,433...731,795

G

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

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:304,090...346,281
Ensembl chrNW_004936529:303,843...342,935

G

protein kinase cAMP-dependent type II regulatory subunit alpha

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:528,138...601,078
Ensembl chrNW_004936529:528,114...601,122

G

glutaminyl-tRNA synthetase 1

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:802,753...810,270
Ensembl chrNW_004936529:802,759...810,265

G

glutamine rich 1

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:753,842...802,405
Ensembl chrNW_004936529:753,844...801,861

G

RNA binding motif protein 5

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,639,919...1,672,143
Ensembl chrNW_004936529:1,639,880...1,672,282

G

RNA binding motif protein 6

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,534,816...1,635,012
Ensembl chrNW_004936529:1,534,657...1,635,071

G

ras homolog family member A

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,000,050...1,045,655
Ensembl chrNW_004936529:999,935...1,045,681

G

ribonuclease H2 subunit B

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

NCBI chrNW_004936565:3,791,305...3,839,991
Ensembl chrNW_004936565:3,791,329...3,840,016

G

ring finger protein 123

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,306,849...1,336,032
Ensembl chrNW_004936529:1,306,968...1,336,032

G

semaphorin 3B

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,806,535...1,818,352
Ensembl chrNW_004936529:1,802,982...1,818,736

G

semaphorin 3F

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,704,523...1,733,465
Ensembl chrNW_004936529:1,704,476...1,733,941

G

shisa family member 5

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:266,671...292,103
Ensembl chrNW_004936529:266,456...269,732

G

solute carrier family 25 member 20

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:607,035...631,872
Ensembl chrNW_004936529:606,804...631,991

G

solute carrier family 26 member 6

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:425,839...435,590
Ensembl chrNW_004936529:424,720...435,293

G

solute carrier family 38 member 3

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,749,919...1,765,885
Ensembl chrNW_004936529:1,749,853...1,768,476

G

T cell leukemia translocation altered

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,045,735...1,047,922
Ensembl chrNW_004936529:1,045,798...1,050,384

G

transmembrane protein 89

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:422,145...424,320
Ensembl chrNW_004936529:423,025...423,958

G

TRAF interacting protein

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,434,629...1,466,382

G

three prime repair exonuclease 1

susceptibility

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 chrNW_004936529:264,535...266,451
Ensembl chrNW_004936529:264,468...266,422

G

ubiquitin like modifier activating enzyme 7

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:1,412,196...1,421,216
Ensembl chrNW_004936529:1,412,194...1,421,197

G

urocortin 2

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:347,411...348,040

G

ubiquitin specific peptidase 19

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:814,649...826,008
Ensembl chrNW_004936529:813,951...826,014

G

ubiquitin specific peptidase 4

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:941,042...989,781
Ensembl chrNW_004936529:938,501...989,884

G

WD repeat domain 6

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

PMID:16845398 PMID:28492532

NCBI chrNW_004936529:731,958...741,334
Ensembl chrNW_004936529:730,716...745,427

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 chrNW_004936565:3,791,305...3,839,991
Ensembl chrNW_004936565:3,791,329...3,840,016

Aicardi-Goutieres Syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actinin alpha 3

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

NCBI chrNW_004936599:3,033,854...3,046,364
Ensembl chrNW_004936599:3,029,202...3,046,385

G

aminoacylase 3

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

NCBI chrNW_004936599:2,146,162...2,149,527
Ensembl chrNW_004936599:2,145,865...2,149,576

G

aryl hydrocarbon receptor interacting protein

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

NCBI chrNW_004936599:2,274,451...2,280,486
Ensembl chrNW_004936599:2,274,448...2,280,504

G

aldehyde dehydrogenase 3 family member B1

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

NCBI chrNW_004936599:2,086,874...2,101,173
Ensembl chrNW_004936599:2,085,736...2,101,302

G

ankyrin repeat domain 13D

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

NCBI chrNW_004936599:2,423,095...2,434,534
Ensembl chrNW_004936599:2,423,048...2,434,897

G

anoctamin 1

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

NCBI chrNW_004936599:647,230...726,371
Ensembl chrNW_004936599:648,659...719,310

G

adaptor related protein complex 5 subunit beta 1

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

PMID:28492532 PMID:28600438

NCBI chrNW_004936599:3,750,553...3,753,601
Ensembl chrNW_004936599:3,750,512...3,754,291

G

beta-1,4-glucuronyltransferase 1

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

NCBI chrNW_004936599:3,257,329...3,259,614
Ensembl chrNW_004936599:3,257,329...3,259,719

G

barrier to autointegration nuclear assembly factor 1

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

NCBI chrNW_004936599:3,553,190...3,555,167
Ensembl chrNW_004936599:3,553,193...3,555,162

G

Bardet-Biedl syndrome 1

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

NCBI chrNW_004936599:3,059,274...3,076,853
Ensembl chrNW_004936599:3,059,148...3,076,299

G

BRMS1 transcriptional repressor and anoikis regulator

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

NCBI chrNW_004936599:3,259,868...3,267,172
Ensembl chrNW_004936599:3,259,835...3,267,676

G

calcium binding protein 2

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

NCBI chrNW_004936599:2,246,139...2,250,963
Ensembl chrNW_004936599:2,246,177...2,250,865

G

calcium binding protein 4

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

NCBI chrNW_004936599:2,295,124...2,299,558
Ensembl chrNW_004936599:2,293,000...2,300,322

G

calpain 1

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

NCBI chrNW_004936599:4,178,963...4,201,037
Ensembl chrNW_004936599:4,178,901...4,201,052

G

carnosine synthase 1

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

NCBI chrNW_004936599:2,322,797...2,331,604
Ensembl chrNW_004936599:2,322,815...2,331,599

G

cation channel sperm associated 1

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

NCBI chrNW_004936599:3,529,621...3,538,291

G

coiled-coil domain containing 85B

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

NCBI chrNW_004936599:3,649,372...3,650,408
Ensembl chrNW_004936599:3,649,613...3,650,221

G

coiled-coil domain containing 87

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

NCBI chrNW_004936599:3,005,067...3,008,053

G

cyclin D1

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

Ensembl chrNW_004936599:973,838...983,316

G

copper chaperone for superoxide dismutase

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

NCBI chrNW_004936599:2,992,740...3,005,230
Ensembl chrNW_004936599:2,988,025...3,005,599

G

CD248 molecule

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

NCBI chrNW_004936599:3,284,695...3,287,022

G

cyclin dependent kinase 2 associated protein 2

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

NCBI chrNW_004936599:2,257,731...2,259,883
Ensembl chrNW_004936599:2,257,671...2,259,886

G

cofilin 1

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

PMID:28492532 PMID:28600438

NCBI chrNW_004936599:3,678,724...3,682,314
Ensembl chrNW_004936599:3,677,804...3,682,307

G

choline kinase alpha

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

NCBI chrNW_004936599:2,031,953...2,068,423
Ensembl chrNW_004936599:2,001,673...2,067,399

G

cardiotrophin like cytokine factor 1

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

NCBI chrNW_004936599:2,372,889...2,376,316
Ensembl chrNW_004936599:2,372,031...2,376,939

G

cornichon family AMPA receptor auxiliary protein 2

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

NCBI chrNW_004936599:3,310,873...3,316,575
Ensembl chrNW_004936599:3,310,872...3,316,573

G

coronin 1B

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

NCBI chrNW_004936599:2,307,974...2,312,487
Ensembl chrNW_004936599:2,307,761...2,312,938

G

carnitine palmitoyltransferase 1A

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

NCBI chrNW_004936599:1,491,934...1,535,101
Ensembl chrNW_004936599:1,482,172...1,535,119

G

cystatin E/M

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

NCBI chrNW_004936599:3,541,359...3,543,206
Ensembl chrNW_004936599:3,541,272...3,543,418

G

cathepsin F

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

NCBI chrNW_004936599:3,026,837...3,033,735
Ensembl chrNW_004936599:3,029,327...3,033,272

G

cathepsin W

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

NCBI chrNW_004936599:3,657,255...3,661,007
Ensembl chrNW_004936599:3,657,453...3,660,922

G

chromosome unknown C11orf24 homolog

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

NCBI chrNW_004936599:1,869,034...1,879,011

G

chromosome unknown C11orf68 homolog

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

NCBI chrNW_004936599:3,624,401...3,626,237
Ensembl chrNW_004936599:3,624,428...3,626,237

G

chromosome unknown C11orf86 homolog

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

NCBI chrNW_004936599:2,664,951...2,665,843
Ensembl chrNW_004936599:2,664,951...2,665,843

G

double PHD fingers 2

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

NCBI chrNW_004936599:4,063,030...4,078,159
Ensembl chrNW_004936599:4,062,764...4,078,228

G

dipeptidyl peptidase 3

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

NCBI chrNW_004936599:3,076,909...3,098,012
Ensembl chrNW_004936599:3,076,909...3,097,785

G

DR1 associated protein 1

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

NCBI chrNW_004936599:3,621,549...3,622,824
Ensembl chrNW_004936599:3,621,423...3,622,874

G

EGF containing fibulin extracellular matrix protein 2

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

PMID:28492532 PMID:28600438

NCBI chrNW_004936599:3,663,288...3,670,048
Ensembl chrNW_004936599:3,663,326...3,670,047

G

EH domain binding protein 1 like 1

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

PMID:28492532 PMID:28600438

NCBI chrNW_004936599:3,867,185...3,882,712
Ensembl chrNW_004936599:3,867,005...3,882,732

G

eukaryotic translation initiation factor 1A domain containing

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

NCBI chrNW_004936599:3,555,273...3,558,443
Ensembl chrNW_004936599:3,555,273...3,562,842

G

Fas associated via death domain

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

NCBI chrNW_004936599:633,501...639,412
Ensembl chrNW_004936599:633,330...639,456

G

fibroblast growth factor 19

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

NCBI chrNW_004936599:923,943...932,428
Ensembl chrNW_004936599:923,943...932,321

G

fibroblast growth factor 3

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

NCBI chrNW_004936599:868,634...875,464
Ensembl chrNW_004936599:868,634...875,464

G

fibroblast growth factor 4

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

NCBI chrNW_004936599:894,091...895,676

G

FGF1 intracellular binding protein

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

NCBI chrNW_004936599:3,652,889...3,657,171
Ensembl chrNW_004936599:3,652,839...3,660,645

G

FOS like 1, AP-1 transcription factor subunit

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

NCBI chrNW_004936599:3,642,504...3,649,294
Ensembl chrNW_004936599:3,642,504...3,648,417

G

FERM domain containing 8

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

NCBI chrNW_004936599:4,019,651...4,033,352
Ensembl chrNW_004936599:4,014,355...4,032,866

G

galanin and GMAP prepropeptide

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

NCBI chrNW_004936599:1,563,270...1,567,618
Ensembl chrNW_004936599:1,563,270...1,566,158

G

galactose-3-O-sulfotransferase 3

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

NCBI chrNW_004936599:3,498,011...3,512,550
Ensembl chrNW_004936599:3,498,005...3,504,901

G

G protein-coupled receptor 152

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

NCBI chrNW_004936599:2,301,232...2,303,547
Ensembl chrNW_004936599:2,300,120...2,302,731

G

G protein-coupled receptor kinase 2

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

NCBI chrNW_004936599:2,437,061...2,456,141
Ensembl chrNW_004936599:2,437,032...2,456,147

G

glutathione S-transferase pi 1

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

NCBI chrNW_004936599:2,197,681...2,200,642
Ensembl chrNW_004936599:2,197,634...2,201,050

G

immunoglobulin mu DNA binding protein 2

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

NCBI chrNW_004936599:1,406,815...1,439,764
Ensembl chrNW_004936599:1,406,802...1,439,774

G

lysine acetyltransferase 5

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

PMID:25741868 PMID:28492532 PMID:28600438

NCBI chrNW_004936599:3,767,526...3,775,416
Ensembl chrNW_004936599:3,766,242...3,776,128

G

potassium two pore domain channel subfamily K member 7

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

PMID:28492532 PMID:28600438

NCBI chrNW_004936599:3,864,110...3,866,998
Ensembl chrNW_004936599:3,864,097...3,866,994

G

lysine demethylase 2A

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

NCBI chrNW_004936599:2,466,427...2,576,623
Ensembl chrNW_004936599:2,466,214...2,576,623

G

kinesin light chain 2

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

NCBI chrNW_004936599:3,325,013...3,334,366
Ensembl chrNW_004936599:3,325,015...3,334,434

G

lysine methyltransferase 5B

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

NCBI chrNW_004936599:1,928,172...1,983,983
Ensembl chrNW_004936599:1,928,145...1,984,008

G

RNA-binding protein 14

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

NCBI chrNW_004936599:2,968,178...2,984,033
Ensembl chrNW_004936599:2,975,350...2,984,060

G

leucine rich repeat and fibronectin type III domain containing 4

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

NCBI chrNW_004936599:2,781,439...2,784,627
Ensembl chrNW_004936599:2,780,745...2,784,627

G

LDL receptor related protein 5

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

NCBI chrNW_004936599:1,746,309...1,814,471
Ensembl chrNW_004936599:1,746,406...1,814,321

G

latent transforming growth factor beta binding protein 3

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

PMID:28492532 PMID:28600438

NCBI chrNW_004936599:3,902,903...3,918,471
Ensembl chrNW_004936599:3,902,897...3,918,471

G

LTO1 maturation factor of ABCE1

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

NCBI chrNW_004936599:961,060...965,274
Ensembl chrNW_004936599:961,113...965,274

G

mitogen-activated protein kinase kinase kinase 11

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

PMID:28492532 PMID:28600438

NCBI chrNW_004936599:3,847,637...3,862,895
Ensembl chrNW_004936599:3,848,334...3,863,005

G

MAS related GPR family member D

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

NCBI chrNW_004936599:1,384,216...1,385,296

G

MAS related GPR family member F

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

NCBI chrNW_004936599:1,361,858...1,369,277
Ensembl chrNW_004936599:1,361,823...1,369,300

G

mitochondrial ribosomal protein L11

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

NCBI chrNW_004936599:3,134,791...3,136,470
Ensembl chrNW_004936599:3,134,607...3,137,448

G

mitochondrial ribosomal protein L21

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

NCBI chrNW_004936599:1,440,207...1,448,424
Ensembl chrNW_004936599:1,440,156...1,448,472

G

MUS81 structure-specific endonuclease subunit

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

PMID:28492532 PMID:28600438

NCBI chrNW_004936599:3,670,759...3,677,375
Ensembl chrNW_004936599:3,670,862...3,677,239

G

NADH:ubiquinone oxidoreductase core subunit S8

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

NCBI chrNW_004936599:2,081,493...2,085,635
Ensembl chrNW_004936599:2,081,079...2,084,730

G

NADH:ubiquinone oxidoreductase core subunit V1

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

NCBI chrNW_004936599:2,169,434...2,173,090
Ensembl chrNW_004936599:2,167,173...2,173,227

G

neuronal PAS domain protein 4

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

NCBI chrNW_004936599:3,144,829...3,150,307
Ensembl chrNW_004936599:3,144,793...3,150,377

G

nudix hydrolase 8

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

NCBI chrNW_004936599:2,159,654...2,161,657

G

ovo like transcriptional repressor 1

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

PMID:28492532 PMID:28600438

NCBI chrNW_004936599:3,732,335...3,742,749
Ensembl chrNW_004936599:3,731,083...3,742,770

G

phosphofurin acidic cluster sorting protein 1

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

NCBI chrNW_004936599:3,345,242...3,379,634
Ensembl chrNW_004936599:3,344,037...3,379,671

G

pyruvate carboxylase

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

NCBI chrNW_004936599:2,677,770...2,793,033
Ensembl chrNW_004936599:2,677,583...2,793,197

G

pecanex 3

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

PMID:28492532 PMID:28600438

NCBI chrNW_004936599:3,825,376...3,847,592
Ensembl chrNW_004936599:3,825,376...3,847,283

G

pellino E3 ubiquitin protein ligase family member 3

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

NCBI chrNW_004936599:3,099,256...3,110,566
Ensembl chrNW_004936599:3,099,256...3,110,565

G

phosphatidylinositol transfer protein membrane associated 1

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

NCBI chrNW_004936599:2,262,210...2,273,933
Ensembl chrNW_004936599:2,262,204...2,276,203

G

DNA polymerase alpha 2, accessory subunit

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

NCBI chrNW_004936599:4,105,365...4,132,079
Ensembl chrNW_004936599:4,105,301...4,132,054

G

DNA polymerase delta 4, accessory subunit

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

NCBI chrNW_004936599:2,383,919...2,385,705
Ensembl chrNW_004936599:2,383,792...2,386,537

G

protein phosphatase 1 catalytic subunit alpha

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

NCBI chrNW_004936599:2,345,982...2,348,494
Ensembl chrNW_004936599:2,344,552...2,348,494

G

protein phosphatase 6 regulatory subunit 3

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

NCBI chrNW_004936599:1,603,700...1,739,224
Ensembl chrNW_004936599:1,602,430...1,697,221

G

protein tyrosine phosphatase receptor type C associated protein

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

NCBI chrNW_004936599:2,312,570...2,315,053
Ensembl chrNW_004936599:2,312,896...2,315,028

G

RAB1B, member RAS oncogene family

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

NCBI chrNW_004936599:3,317,258...3,324,208
Ensembl chrNW_004936599:3,317,258...3,324,213

G

RAD9 checkpoint clamp component A

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

NCBI chrNW_004936599:2,348,869...2,353,907
Ensembl chrNW_004936599:2,345,646...2,354,029

G

RNA binding motif protein 4B

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

NCBI chrNW_004936599:2,934,951...2,945,753
Ensembl chrNW_004936599:2,935,397...2,945,345

G

Ras converting CAAX endopeptidase 1

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

NCBI chrNW_004936599:2,794,947...2,798,121
Ensembl chrNW_004936599:2,793,215...2,798,707

G

RELA proto-oncogene, NF-kB subunit

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

PMID:28492532 PMID:28600438

NCBI chrNW_004936599:3,800,142...3,810,583
Ensembl chrNW_004936599:3,801,636...3,809,813

G

ras homolog family member D

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

NCBI chrNW_004936599:2,603,800...2,611,686
Ensembl chrNW_004936599:2,603,636...2,611,692

G

Ras and Rab interactor 1

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

NCBI chrNW_004936599:3,267,223...3,274,359
Ensembl chrNW_004936599:3,268,122...3,272,444

G

ribonuclease H2 subunit C

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition

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

NCBI chrNW_004936599:3,766,330...3,767,453
Ensembl chrNW_004936599:3,766,242...3,767,345

G

ribosomal protein S6 kinase B2

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

NCBI chrNW_004936599:2,315,146...2,321,127
Ensembl chrNW_004936599:2,315,146...2,321,152

G

spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP

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

NCBI chrNW_004936599:3,577,552...3,588,825
Ensembl chrNW_004936599:3,577,480...3,588,706

G

SCY1 like pseudokinase 1

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

NCBI chrNW_004936599:3,918,325...3,928,415
Ensembl chrNW_004936599:3,918,469...3,928,421

G

splicing factor 3b subunit 2

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

NCBI chrNW_004936599:3,477,882...3,494,366
Ensembl chrNW_004936599:3,477,589...3,494,354

G

signal-induced proliferation-associated 1

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

PMID:28492532 PMID:28600438

NCBI chrNW_004936599:3,813,350...3,825,319
Ensembl chrNW_004936599:3,813,596...3,822,170

G

solute carrier family 25 member 45

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

NCBI chrNW_004936599:4,038,080...4,043,268
Ensembl chrNW_004936599:4,037,880...4,043,266

G

solute carrier family 29 member 2

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

NCBI chrNW_004936599:3,210,463...3,221,012
Ensembl chrNW_004936599:3,211,939...3,223,348

G

spectrin beta, non-erythrocytic 2

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

NCBI chrNW_004936599:2,890,404...2,928,502
Ensembl chrNW_004936599:2,890,817...2,928,499

G

slingshot protein phosphatase 3

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

NCBI chrNW_004936599:2,414,128...2,422,183
Ensembl chrNW_004936599:2,414,090...2,422,361

G

synaptotagmin 12

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

NCBI chrNW_004936599:2,617,083...2,637,355
Ensembl chrNW_004936599:2,615,075...2,637,422

G

TBC1 domain family member 10C

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

NCBI chrNW_004936599:2,338,131...2,344,134
Ensembl chrNW_004936599:2,338,752...2,344,134

G

T-box transcription factor 10

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

NCBI chrNW_004936599:2,152,281...2,158,332
Ensembl chrNW_004936599:2,152,272...2,158,332

G

T cell immune regulator 1, ATPase H+ transporting V0 subunit a3

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

NCBI chrNW_004936599:2,070,211...2,079,169
Ensembl chrNW_004936599:2,066,847...2,079,206

G

testis expressed metallothionein like protein

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

NCBI chrNW_004936599:1,537,307...1,560,971
Ensembl chrNW_004936599:1,537,307...1,560,960

G

tigger transposable element derived 3

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

NCBI chrNW_004936599:4,058,345...4,061,157
Ensembl chrNW_004936599:4,058,692...4,060,107

G

transmembrane protein 134

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

NCBI chrNW_004936599:2,288,840...2,293,390
Ensembl chrNW_004936599:2,288,838...2,293,367

G

transmembrane protein 151A

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

NCBI chrNW_004936599:3,298,799...3,303,912
Ensembl chrNW_004936599:3,297,694...3,303,938

G

TOP6B like initiator of meiotic double strand breaks

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

NCBI chrNW_004936599:2,798,185...2,875,995
Ensembl chrNW_004936599:2,798,340...2,876,370

G

two pore segment channel 2

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

NCBI chrNW_004936599:1,301,937...1,343,046
Ensembl chrNW_004936599:1,318,169...1,343,106

G

testis specific 10 interacting protein

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

NCBI chrNW_004936599:3,589,017...3,600,067

G

unc-93 homolog B1, TLR signaling regulator

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

NCBI chrNW_004936599:2,109,292...2,146,006
Ensembl chrNW_004936599:2,109,292...2,117,143

G

Yip1 interacting factor homolog A, membrane trafficking protein

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

NCBI chrNW_004936599:3,305,946...3,310,498
Ensembl chrNW_004936599:3,305,925...3,310,836

G

zinc finger DHHC-type containing 24

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

NCBI chrNW_004936599:3,047,011...3,054,512
Ensembl chrNW_004936599:3,047,011...3,054,498

G

zinc ribbon domain containing 2

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

PMID:28492532 PMID:28600438

NCBI chrNW_004936599:3,886,898...3,888,642
Ensembl chrNW_004936599:3,886,892...3,888,866

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 chrNW_004936659:1,862,075...1,867,021
Ensembl chrNW_004936659:1,861,021...1,867,642

G

calreticulin

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

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

NCBI chrNW_004936659:1,994,695...1,999,070
Ensembl chrNW_004936659:1,994,648...1,999,430

G

DAN domain BMP antagonist family member 5

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

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

NCBI chrNW_004936659:2,022,657...2,025,353
Ensembl chrNW_004936659:2,022,657...2,025,353

G

deoxyhypusine synthase

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

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

NCBI chrNW_004936659:1,803,581...1,810,121
Ensembl chrNW_004936659:1,800,942...1,810,224

G

deoxyribonuclease 2, lysosomal

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

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

NCBI chrNW_004936659:1,943,673...1,945,994
Ensembl chrNW_004936659:1,941,372...1,946,087

G

phenylalanyl-tRNA synthetase subunit alpha

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

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

NCBI chrNW_004936659:1,982,343...1,990,277
Ensembl chrNW_004936659:1,981,723...1,990,322

G

F-box and WD repeat domain containing 9

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

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

NCBI chrNW_004936659:1,817,379...1,823,421
Ensembl chrNW_004936659:1,817,434...1,823,401

G

GADD45G interacting protein 1

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

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

NCBI chrNW_004936659:2,008,025...2,010,052
Ensembl chrNW_004936659:2,007,452...2,010,215

G

glutaryl-CoA dehydrogenase

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

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

NCBI chrNW_004936659:1,955,601...1,961,925
Ensembl chrNW_004936659:1,955,559...1,962,758

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 chrNW_004936659:1,851,953...1,858,176
Ensembl chrNW_004936659:1,851,051...1,858,322

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 chrNW_004936659:1,869,622...1,879,213
Ensembl chrNW_004936659:1,869,622...1,879,213

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 chrNW_004936659:2,176,962...2,179,900
Ensembl chrNW_004936659:2,178,312...2,178,983

G

JunB proto-oncogene, AP-1 transcription factor subunit

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

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

NCBI chrNW_004936659:1,890,786...1,892,619
Ensembl chrNW_004936659:1,891,080...1,892,123

G

KLF transcription factor 1

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

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

NCBI chrNW_004936659:1,946,614...1,950,003
Ensembl chrNW_004936659:1,947,075...1,950,003

G

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

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

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

NCBI chrNW_004936659:2,201,606...2,269,625
Ensembl chrNW_004936659:2,192,610...2,392,638

G

LYL1 basic helix-loop-helix family member

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

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

NCBI chrNW_004936659:2,135,253...2,140,849
Ensembl chrNW_004936659:2,135,270...2,140,676

G

mannosidase alpha class 2B member 1

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

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

NCBI chrNW_004936659:1,776,212...1,793,651
Ensembl chrNW_004936659:1,774,773...1,793,670

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 chrNW_004936659:1,919,191...1,943,440
Ensembl chrNW_004936659:1,918,420...1,946,087

G

nucleus accumbens associated 1

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

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

NCBI chrNW_004936659:2,164,147...2,169,879
Ensembl chrNW_004936659:2,163,643...2,169,873

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 chrNW_004936659:2,065,410...2,136,898
Ensembl chrNW_004936659:2,065,458...2,136,889

G

peroxiredoxin 2

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

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

NCBI chrNW_004936659:1,894,423...1,897,690

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 chrNW_004936659:2,001,356...2,007,520
Ensembl chrNW_004936659:2,001,301...2,010,215

G

ribonuclease H2 subunit A

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition

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

NCBI chrNW_004936659:1,897,777...1,905,526
Ensembl chrNW_004936659:1,897,769...1,905,457

G

retbindin

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

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

NCBI chrNW_004936659:1,907,933...1,911,690
Ensembl chrNW_004936659:1,907,936...1,911,994

G

syntaxin 10

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

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

NCBI chrNW_004936659:2,168,272...2,175,803
Ensembl chrNW_004936659:2,172,067...2,175,366

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 chrNW_004936659:1,962,055...1,978,743
Ensembl chrNW_004936659:1,961,243...1,978,743

G

transportin 2

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

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

NCBI chrNW_004936659:1,824,729...1,843,725
Ensembl chrNW_004936659:1,824,729...1,843,727

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 chrNW_004936659:1,847,065...1,850,557
Ensembl chrNW_004936659:1,846,541...1,850,565

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 chrNW_004936659:2,142,151...2,149,373
Ensembl chrNW_004936659:2,140,932...2,149,728

G

WD repeat domain 83

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

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

NCBI chrNW_004936659:1,796,030...1,803,714
Ensembl chrNW_004936659:1,796,067...1,803,683

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 chrNW_004936659:1,794,430...1,795,811
Ensembl chrNW_004936659:1,794,432...1,795,788

Aicardi-Goutieres Syndrome 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BLCAP apoptosis inducing factor

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

NCBI chrNW_004936561:3,735,449...3,746,028
Ensembl chrNW_004936561:3,732,134...3,746,028

G

catenin beta like 1

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

NCBI chrNW_004936561:3,434,232...3,589,341
Ensembl chrNW_004936561:3,434,731...3,589,341

G

growth hormone releasing hormone

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

NCBI chrNW_004936561:3,946,256...3,954,472
Ensembl chrNW_004936561:3,950,340...3,952,405

G

mannosidase beta like

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

NCBI chrNW_004936561:3,898,666...3,915,215
Ensembl chrNW_004936561:3,914,033...3,915,138

G

maestro heat like repeat family member 8

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

NCBI chrNW_004936561:4,020,258...4,083,045
Ensembl chrNW_004936561:4,020,333...4,079,808

G

neuronatin

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

NCBI chrNW_004936561:3,739,664...3,744,015
Ensembl chrNW_004936561:3,739,664...3,742,154

G

RB transcriptional corepressor like 1

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

NCBI chrNW_004936561:4,108,393...4,157,993
Ensembl chrNW_004936561:4,107,861...4,157,647

G

ribophorin II

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

NCBI chrNW_004936561:3,960,979...4,020,792
Ensembl chrNW_004936561:3,960,818...4,021,369

G

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

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

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

NCBI chrNW_004936561:4,180,607...4,238,623
Ensembl chrNW_004936561:4,180,546...4,229,036

G

SRC proto-oncogene, non-receptor tyrosine kinase

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

NCBI chrNW_004936561:3,826,802...3,844,406
Ensembl chrNW_004936561:3,825,787...3,844,483

G

TBC/LysM-associated domain containing 2

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

PMID:25741868 PMID:28492532

NCBI chrNW_004936561:4,229,945...4,241,425
Ensembl chrNW_004936561:4,230,257...4,241,425

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 chrNW_004936580:4,183,016...4,208,341
Ensembl chrNW_004936580:4,183,079...4,203,435

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 chrNW_004936469:16,721,306...16,778,249
Ensembl chrNW_004936469:16,721,677...16,774,903

Aicardi-Goutieres Syndrome 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LSM11, U7 small nuclear RNA associated

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

NCBI chrNW_004936515:5,448,490...5,459,295

Aicardi-Goutieres Syndrome 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromosome unknown C12orf57 homolog

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

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

NCBI chrNW_004936709:884,741...886,617
Ensembl chrNW_004936709:884,741...886,895

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 chrNW_004936541:7,867,856...7,916,145
Ensembl chrNW_004936541:7,867,303...7,916,154

G

protein kinase cAMP-dependent type I regulatory subunit 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 chrNW_004936541:7,845,876...7,863,677
Ensembl chrNW_004936541:7,845,676...7,863,709

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)

NCBI chrNW_004936727:1,418,342...1,422,005
Ensembl chrNW_004936727:1,418,799...1,422,147

G

angiotensinogen

NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261

G

ATP synthase F1 subunit delta

treatment

associated with Hypercholesterolemia

NCBI chrNW_004936588:612,255...614,894
Ensembl chrNW_004936588:611,725...617,782

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

NCBI chrNW_004937067:194,375...246,607

G

gastrin releasing peptide

treatment

associated with chronic kidney disease

NCBI chrNW_004936497:5,473,293...5,487,344
Ensembl chrNW_004936497:5,476,800...5,487,358

G

gelsolin

disease_progression

protein:decreased expression:blood (human)

NCBI chrNW_004936487:9,749,755...9,802,787
Ensembl chrNW_004936487:9,764,944...9,802,841

G

superoxide dismutase 1

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

NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867

G

superoxide dismutase 2

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

NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781

G

vitamin K epoxide reductase complex subunit 1

susceptibility

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

NCBI chrNW_004936501:13,459,400...13,461,864
Ensembl chrNW_004936501:13,459,022...13,462,174

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 chain

ClinVar Annotator: match by term: Aortic valve disease 1

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

NCBI chrNW_004936669:2,474,381...2,613,541
Ensembl chrNW_004936669:2,476,818...2,580,891

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

mRNA:increased expression:aorta (rat)

NCBI chrNW_004937067:194,375...246,607

G

GATA binding protein 5

ClinVar Annotator: match by term: Aortic valve disease 1

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

NCBI chrNW_004936514:10,061,675...10,070,541
Ensembl chrNW_004936514:10,061,675...10,070,541

G

interleukin 6

severity

NCBI chrNW_004936549:7,015,595...7,016,246

G

notch receptor 1

ClinVar Annotator: match by term: Aortic valve disease 1 | ClinVar Annotator: match by term: NOTCH1-related condition

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

NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428

G

SMAD family member 6

ClinVar Annotator: match by term: Aortic valve disease 1

PMID:28492532 PMID:30796334

NCBI chrNW_004936471:26,781,420...26,856,556
Ensembl chrNW_004936471:26,781,549...26,856,571

G

T-box transcription factor 20

ClinVar Annotator: match by term: Aortic valve disease 1

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

NCBI chrNW_004936478:10,887,900...10,939,510
Ensembl chrNW_004936478:10,888,045...10,939,564

arterial calcification of infancy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 6

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936501:3,469,928...3,508,577

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

ClinVar Annotator: match by term: Idiopathic infantile arterial calcification

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

NCBI chrNW_004937067:194,375...246,607

autosomal dominant hypocalcemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amelogenin X-linked

NCBI chrNW_004936470:1,169,906...1,174,166
Ensembl chrNW_004936470:1,169,906...1,179,604

G

bone gamma-carboxyglutamate protein

NCBI chrNW_004936580:5,480,023...5,482,288
Ensembl chrNW_004936580:5,481,355...5,482,155

G

calcium sensing receptor

ClinVar Annotator: match by term: Autosomal dominant hypocalcemia

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

NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454

G

25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial

NCBI chrNW_004936646:1,899,686...1,904,104
Ensembl chrNW_004936646:1,900,259...1,904,104

G

parathyroid hormone

protein:increased expression:serum (rat)

NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030

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

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

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

NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454

autosomal dominant hypocalcemia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G protein subunit alpha 11

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

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

NCBI chrNW_004936588:1,770,777...1,789,143
Ensembl chrNW_004936588:1,770,771...1,789,170

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

ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome

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

NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454

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

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

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

NCBI chrNW_004936606:4,555,034...4,561,961
Ensembl chrNW_004936606:4,555,034...4,561,961

G

phosphate regulating endopeptidase X-linked

ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets

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

NCBI chrNW_004936624:2,124,479...2,312,847
Ensembl chrNW_004936624:2,126,253...2,312,847

autosomal recessive hypophosphatemic rickets

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dentin matrix acidic phosphoprotein 1

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

PMID:25741868 PMID:28492532

NCBI chrNW_004936905:419,478...427,335
Ensembl chrNW_004936905:420,354...427,324

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 chrNW_004937067:194,375...246,607

basal ganglia calcification

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

platelet derived growth factor receptor beta

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

NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829

G

solute carrier family 20 member 2

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

NCBI chrNW_004936785:177,134...285,467
Ensembl chrNW_004936785:181,127...285,209

Calcification of Aortic Valve

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AKT serine/threonine kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936621:620,163...639,115
Ensembl chrNW_004936621:620,074...639,093

G

CD40 ligand

treatment

NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403

G

delta like canonical Notch ligand 4

ameliorates

NCBI chrNW_004936471:4,320,235...4,330,251
Ensembl chrNW_004936471:4,320,933...4,330,253

G

heat shock protein family D (Hsp60) member 1

severity

NCBI chrNW_004936506:1,678,069...1,687,632

G

Meis homeobox 2

mRNA,protein:decreased expression:aortic valve:

NCBI chrNW_004936471:800,510...1,006,054
Ensembl chrNW_004936471:798,739...1,006,047

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428

G

prostaglandin-endoperoxide synthase 2

disease_progression

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

NCBI chrNW_004936481:3,821,564...3,828,086

G

parathyroid hormone

disease_progression

protein:increased expression:serum (rat)

NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030

G

protein tyrosine phosphatase non-receptor type 1

protein:increased expression:aortic valve (human)

NCBI chrNW_004936514:4,065,455...4,083,847
Ensembl chrNW_004936514:4,068,238...4,084,009

G

solute carrier family 20 member 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936783:1,117,835...1,130,739
Ensembl chrNW_004936783:1,117,829...1,131,213

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425

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 chrNW_004936578:3,332,934...3,339,903
Ensembl chrNW_004936578:3,332,934...3,339,903

G

alkaline phosphatase, biomineralization associated

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936474:7,209,196...7,229,899
Ensembl chrNW_004936474:7,209,093...7,229,989

G

bone gamma-carboxyglutamate protein

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

PMID:18422975 PMID:20197689 PMID:21335463

RGD:6483566 RGD:9068449

NCBI chrNW_004936580:5,480,023...5,482,288
Ensembl chrNW_004936580:5,481,355...5,482,155

G

bone morphogenetic protein 2

CTD Direct Evidence: marker/mechanism

PMID:30963258 PMID:31843813

NCBI chrNW_004936485:12,428,765...12,439,570
Ensembl chrNW_004936485:12,428,710...12,439,454

G

bone morphogenetic protein 4

protein:increased expression:dermis:

NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468

G

complement C6

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936518:1,471,116...1,532,733
Ensembl chrNW_004936518:1,471,355...1,532,439

G

caspase 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936554:4,571,072...4,593,765

G

C-C motif chemokine ligand 15

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936490:298,270...302,147

G

collagen type XVIII alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936778:847,473...943,038

G

collagen type I alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444

G

CST telomere replication complex component 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936595:1,456,911...1,476,331
Ensembl chrNW_004936595:1,454,508...1,476,593

G

catenin beta 1

protein:increased expression:dermis:

NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293

G

dystrophin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936553:7,157,526...7,943,703

G

erythropoietin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343

G

erb-b2 receptor tyrosine kinase 2

associated with Breast Neoplasms;protein:increased expression:breast

NCBI chrNW_004936490:14,887,062...14,910,038
Ensembl chrNW_004936490:14,887,043...14,909,956

G

Fc fragment of IgG receptor Ia

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936580:115,552...144,970
Ensembl chrNW_004936580:115,450...145,785

G

fibroblast growth factor 23

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936606:4,555,034...4,561,961
Ensembl chrNW_004936606:4,555,034...4,561,961

G

polypeptide N-acetylgalactosaminyltransferase 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936469:13,538,349...13,576,608
Ensembl chrNW_004936469:13,538,258...13,576,657

G

glutathione peroxidase 1

susceptibility

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

NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987

G

interleukin 18

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165

G

integrin subunit beta 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936574:1,465,981...1,495,717
Ensembl chrNW_004936574:1,465,897...1,495,762

G

integrin subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936778:1,286,475...1,311,184
Ensembl chrNW_004936778:1,286,341...1,311,194

G

Janus kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936503:111,722...243,627
Ensembl chrNW_004936503:110,963...241,867

G

klotho

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086

G

lipocalin 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936487:15,721,752...15,725,396
Ensembl chrNW_004936487:15,721,684...15,728,221

G

lymphocyte specific protein 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936816:752,021...786,998

G

lymphocyte antigen 86

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936534:5,848,110...5,908,082
Ensembl chrNW_004936534:5,848,100...5,908,114

G

matrix Gla protein

NCBI chrNW_004936587:2,601,419...2,605,848
Ensembl chrNW_004936587:2,601,312...2,605,870

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

PMID:15545515 PMID:21193197

NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

PMID:15545515 PMID:21193197

NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428

G

nuclear receptor subfamily 1 group I member 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936536:6,691,590...6,726,421
Ensembl chrNW_004936536:6,691,590...6,726,704

G

platelet derived growth factor subunit B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573

G

platelet derived growth factor receptor beta

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109

G

protein tyrosine phosphatase non-receptor type 6

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936709:864,206...884,630
Ensembl chrNW_004936709:864,197...884,610

G

PYD and CARD domain containing

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936501:13,550,702...13,552,774
Ensembl chrNW_004936501:13,550,679...13,552,805

G

receptor interacting serine/threonine kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936722:209,019...212,817
Ensembl chrNW_004936722:209,013...212,839

G

solute carrier family 20 member 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936785:177,134...285,467
Ensembl chrNW_004936785:181,127...285,209

G

solute carrier family 22 member 6

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936581:348,719...356,246
Ensembl chrNW_004936581:349,057...356,059

G

snail family transcriptional repressor 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936590:3,813,916...3,817,642
Ensembl chrNW_004936590:3,813,888...3,817,642

G

secreted protein acidic and cysteine rich

protein:increased expression:dermis:

NCBI chrNW_004936515:11,026,156...11,046,812
Ensembl chrNW_004936515:11,025,724...11,046,849

G

sialophorin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936501:12,773,967...12,776,642

G

secreted phosphoprotein 1

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

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

RGD:6903869 RGD:9068449

NCBI chrNW_004936905:148,956...156,023
Ensembl chrNW_004936905:148,945...156,079

G

transforming growth factor beta 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272

G

TIMP metallopeptidase inhibitor 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936502:13,345,936...13,350,170
Ensembl chrNW_004936502:13,345,832...13,350,248

G

TIMP metallopeptidase inhibitor 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936594:3,232,433...3,244,241
Ensembl chrNW_004936594:3,232,355...3,244,241

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425

G

xenotropic and polytropic retrovirus receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936481:8,462,714...8,601,824
Ensembl chrNW_004936481:8,462,714...8,602,185

Cerebroretinal Microangiopathy with Calcifications and Cysts

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CST telomere replication complex component 1

ClinVar Annotator: match by term: Coats plus syndrome

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

NCBI chrNW_004936595:1,456,911...1,476,331
Ensembl chrNW_004936595:1,454,508...1,476,593

G

STN1 subunit of CST complex

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936600:2,230,754...2,266,956
Ensembl chrNW_004936600:2,230,705...2,266,968

Cerebroretinal Microangiopathy with Calcifications and Cysts 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CST telomere replication complex component 1

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

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

NCBI chrNW_004936595:1,456,911...1,476,331
Ensembl chrNW_004936595:1,454,508...1,476,593

G

phosphoribosylformylglycinamidine synthase

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 chrNW_004936595:1,483,688...1,499,716
Ensembl chrNW_004936595:1,483,689...1,501,364

Cerebroretinal Microangiopathy with Calcifications and Cysts 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

STN1 subunit of CST complex

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

PMID:25741868 PMID:27432940 PMID:28492532

NCBI chrNW_004936600:2,230,754...2,266,956
Ensembl chrNW_004936600:2,230,705...2,266,968

Cerebroretinal Microangiopathy with Calcifications and Cysts 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protection of telomeres 1

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

PMID:27013236 PMID:28492532

NCBI chrNW_004936605:836,824...919,099
Ensembl chrNW_004936605:836,769...920,201

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 chrNW_004937067:194,375...246,607

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

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

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

NCBI chrNW_004936534:42,354...323,735
Ensembl chrNW_004936534:42,433...536,171

G

TNF receptor superfamily member 11b

severity

associated with Kidney Failure, Chronic

NCBI chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089

CREST syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centromere protein C

associated with Anticentromere antibody positivity

NCBI chrNW_004936582:920,852...978,167
Ensembl chrNW_004936582:920,833...981,373

G

fibrillin 1

NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231

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 member 1 (Augustine blood group)

OMIM:106400

NCBI chrNW_004936476:15,849,054...15,862,486
Ensembl chrNW_004936476:15,846,606...15,862,548

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 chrNW_004936725:1,751,272...1,897,937
Ensembl chrNW_004936725:1,751,266...1,897,946

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 chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454

G

coiled-coil domain containing 14

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936725:1,273,984...1,331,096
Ensembl chrNW_004936725:1,273,946...1,331,109

G

CD86 molecule

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936536:8,414,491...8,481,712

G

cystatin A

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

PMID:11807402 PMID:20798521 PMID:28492532

NCBI chrNW_004936536:8,649,890...8,662,472
Ensembl chrNW_004936536:8,649,703...8,662,490

G

deltex E3 ubiquitin ligase 3L

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936536:8,844,778...8,853,442
Ensembl chrNW_004936536:8,844,575...8,851,146

G

ELL associated factor 2

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936536:8,213,794...8,257,595
Ensembl chrNW_004936536:8,213,763...8,258,201

G

family with sequence similarity 162 member A

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936536:8,697,631...8,725,667
Ensembl chrNW_004936536:8,697,595...8,730,329

G

glyoxylate and hydroxypyruvate reductase

ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis

PMID:25741868 PMID:28492532

NCBI chrNW_004936524:5,208,793...5,219,555
Ensembl chrNW_004936524:5,208,492...5,219,970

G

3-hydroxyacyl-CoA dehydratase 2

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936725:1,614,637...1,705,111
Ensembl chrNW_004936725:1,614,622...1,705,132

G

heart development protein with EGF like domains 1

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936725:261,809...336,390
Ensembl chrNW_004936725:261,712...336,414

G

hypoxanthine phosphoribosyltransferase 1

ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis

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

NCBI chrNW_004936691:650,753...694,362
Ensembl chrNW_004936691:652,769...694,463

G

HSPB1 associated protein 1

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936536:8,976,625...8,994,974

G

immunoglobulin like domain containing receptor 1

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936536:8,351,394...8,383,857
Ensembl chrNW_004936536:8,351,359...8,383,907

G

IQ motif containing B1

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936536:8,164,120...8,213,690
Ensembl chrNW_004936536:8,163,554...8,213,708

G

integrin subunit beta 5

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936725:417,824...530,993
Ensembl chrNW_004936725:417,433...532,760

G

kalirin RhoGEF kinase

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936725:749,382...1,020,702
Ensembl chrNW_004936725:572,868...1,139,142

G

karyopherin subunit alpha 1

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936536:8,735,159...8,801,385
Ensembl chrNW_004936536:8,737,488...8,801,428

G

protein mono-ADP-ribosyltransferase PARP14

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936536:8,923,398...8,976,583
Ensembl chrNW_004936536:8,923,411...8,974,283

G

mitochondrial matrix import factor 23

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936536:8,671,244...8,696,754
Ensembl chrNW_004936536:8,671,172...8,696,886

G

mucin 13, cell surface associated

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936725:381,006...400,333

G

myosin light chain kinase

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936725:1,418,930...1,594,697
Ensembl chrNW_004936725:1,424,130...1,592,840

G

OCRL inositol polyphosphate-5-phosphatase

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

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

NCBI chrNW_004936479:1,955,362...2,011,608
Ensembl chrNW_004936479:1,953,488...2,012,018

G

poly(ADP-ribose) polymerase family member 9

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936536:8,806,824...8,845,099
Ensembl chrNW_004936536:8,806,818...8,840,746

G

protein disulfide isomerase family A member 5

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936725:2,024,646...2,114,530
Ensembl chrNW_004936725:2,024,643...2,114,560

G

phosphoribosyl pyrophosphate synthetase 1

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

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

NCBI chrNW_004936499:7,114,838...7,136,468
Ensembl chrNW_004936499:7,115,780...7,136,449

G

rhophilin associated tail protein 1

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936725:1,254,973...1,267,143

G

SEC22 homolog A, vesicle trafficking protein

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936725:1,906,304...1,982,413
Ensembl chrNW_004936725:1,906,362...1,975,567

G

semaphorin 5B

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936725:2,229,772...2,270,458
Ensembl chrNW_004936725:2,229,764...2,268,894

G

solute carrier family 12 member 8

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936725:100,780...237,525
Ensembl chrNW_004936725:100,823...237,223

G

solute carrier family 15 member 2

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936536:8,280,537...8,316,011
Ensembl chrNW_004936536:8,280,448...8,316,064

G

solute carrier family 49 member 4

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004937358:39,940...86,612

G

sorting nexin 4

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004937215:127,074...137,281

G

uridine monophosphate synthetase

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936725:553,278...564,846
Ensembl chrNW_004936725:549,804...565,141

G

WD repeat domain 5B

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936536:8,727,881...8,731,067
Ensembl chrNW_004936536:8,728,735...8,730,367

G

zinc finger protein 148

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chrNW_004936725:6,968...89,762
Ensembl chrNW_004936725:6,962...83,034

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

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

NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454

familial hypocalciuric hypercalcemia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G protein subunit alpha 11

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 | ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, type II

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

NCBI chrNW_004936588:1,770,777...1,789,143
Ensembl chrNW_004936588:1,770,771...1,789,170

Familial Hypophosphatemic Rickets

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chloride voltage-gated channel 5

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936721:1,552,312...1,602,360
Ensembl chrNW_004936721:1,445,779...1,596,814

G

phosphate regulating endopeptidase X-linked

ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets

PMID:9097956 PMID:9199930 PMID:11468271 PMID:12727977 PMID:18625346 More...

NCBI chrNW_004936624:2,124,479...2,312,847
Ensembl chrNW_004936624:2,126,253...2,312,847

G

vitamin D 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 chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109

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 chrNW_004936560:42,561...45,748
Ensembl chrNW_004936560:42,537...45,807

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 chrNW_004937067:194,375...246,607

G

ectonucleotide pyrophosphatase/phosphodiesterase 3

ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1

NCBI chrNW_004937067:41,573...129,386

G

zinc finger protein 292

ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1

NCBI chrNW_004936510:4,555,806...4,633,146
Ensembl chrNW_004936510:4,554,181...4,633,169

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 subfamily 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 chrNW_004936501:3,469,928...3,508,577

GRACILE syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrial chaperone BCS1

ClinVar Annotator: match by term: GRACILE syndrome

PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More...

NCBI chrNW_004936569:1,104,493...1,108,708
Ensembl chrNW_004936569:1,104,549...1,108,708

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

PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More...

NCBI chrNW_004936526:2,254,463...2,282,785
Ensembl chrNW_004936526:2,254,449...2,282,785

Heme Oxygenase 1 Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heme oxygenase 1

ClinVar Annotator: match by term: HMOX1-related condition | ClinVar Annotator: match by term: Heme oxygenase 1 deficiency

PMID:9884342 PMID:16199547 PMID:21088618 PMID:22023467 PMID:25741868 More...

NCBI chrNW_004936492:5,042,353...5,049,216
Ensembl chrNW_004936492:5,042,330...5,049,311

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 chrNW_004936592:2,486,219...2,522,796
Ensembl chrNW_004936592:2,491,681...2,522,796

G

aminolevulinate dehydratase

treatment

NCBI chrNW_004936559:226,481...237,258
Ensembl chrNW_004936559:226,424...241,684

G

5'-aminolevulinate synthase 2

severity

DNA:mutation:cds:c.15599C>T,p.520L(human)

NCBI chrNW_004936751:1,818,255...1,841,028
Ensembl chrNW_004936751:1,814,446...1,841,531

G

beta-2-microglobulin

OMIM:231100

NCBI chrNW_004936471:7,646,504...7,655,656
Ensembl chrNW_004936471:7,646,373...7,655,778

G

bone morphogenetic protein 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936485:12,428,765...12,439,570
Ensembl chrNW_004936485:12,428,710...12,439,454

G

bone morphogenetic protein 6

CTD Direct Evidence: marker/mechanism

PMID:19252486 PMID:19252488

NCBI chrNW_004936534:4,707,658...4,871,865
Ensembl chrNW_004936534:4,709,064...4,871,023

G

ceruloplasmin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936519:6,431,156...6,473,183
Ensembl chrNW_004936519:6,431,144...6,481,858

G

hepcidin antimicrobial peptide

ClinVar Annotator: match by term: Hemochromatosis, juvenile, digenic | ClinVar Annotator: match by term: Hereditary hemochromatosis

PMID:9536098 PMID:12915468 PMID:14630809 PMID:14670915 PMID:15024747 More...

NCBI chrNW_004936570:1,009,344...1,010,654
Ensembl chrNW_004936570:1,009,312...1,010,686

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

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

NCBI chrNW_004936671:1,940,079...1,947,574
Ensembl chrNW_004936671:1,940,101...1,947,580

G

hemojuvelin BMP co-receptor

juvenile hemochromatosis, type 2A, OMIM:602390 protein:substitution:CDS:G320V
CTD Direct Evidence: marker/mechanism

PMID:14647275 PMID:16868025 PMID:17255318 PMID:19252486 PMID:21411349

NCBI chrNW_004936867:742,539...747,035
Ensembl chrNW_004936867:742,501...746,930

G

heme oxygenase 1

OMIM:231100

NCBI chrNW_004936492:5,042,353...5,049,216
Ensembl chrNW_004936492:5,042,330...5,049,311

G

haptoglobin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936475:21,841,054...21,845,821

G

solute carrier family 11 member 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936512:8,590,302...8,622,121
Ensembl chrNW_004936512:8,586,262...8,623,597

G

solute carrier family 40 member 1

ClinVar Annotator: match by term: Hereditary hemochromatosis

NCBI chrNW_004936506:8,396,593...8,415,069
Ensembl chrNW_004936506:8,396,912...8,416,374

G

transferrin receptor 2

ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis

PMID:9536098 PMID:10802645 PMID:11102989 PMID:11313241 PMID:11358389 More...

NCBI chrNW_004936543:667,570...681,872
Ensembl chrNW_004936543:668,157...682,174

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:-308G>A (human)
DNA:SNP:promoter:-238G>A (rs361525) (human)

PMID:11389006 PMID:16793930

RGD:12904050 RGD:12904656

NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766

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 chrNW_004936485:12,428,765...12,439,570
Ensembl chrNW_004936485:12,428,710...12,439,454

G

hepcidin antimicrobial peptide

ClinVar Annotator: match by term: Hemochromatosis type 1

PMID:12915468 PMID:19214511 PMID:28492532

NCBI chrNW_004936570:1,009,344...1,010,654
Ensembl chrNW_004936570:1,009,312...1,010,686

G

homeostatic iron regulator

ClinVar Annotator: match by term: HFE-related condition | ClinVar Annotator: match by term: Hemochromatosis type 1

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

NCBI chrNW_004936671:1,940,079...1,947,574
Ensembl chrNW_004936671:1,940,101...1,947,580

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 chrNW_004936867:742,539...747,035
Ensembl chrNW_004936867:742,501...746,930

G

solute carrier family 40 member 1

ClinVar Annotator: match by term: Hemochromatosis type 1

NCBI chrNW_004936506:8,396,593...8,415,069
Ensembl chrNW_004936506:8,396,912...8,416,374

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 chrNW_004936543:667,570...681,872
Ensembl chrNW_004936543:668,157...682,174

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 chrNW_004936570:1,009,344...1,010,654
Ensembl chrNW_004936570:1,009,312...1,010,686

G

homeostatic iron regulator

ClinVar Annotator: match by term: Juvenile hemochromatosis

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

NCBI chrNW_004936671:1,940,079...1,947,574
Ensembl chrNW_004936671:1,940,101...1,947,580

G

hemojuvelin BMP co-receptor

ClinVar Annotator: match by term: Juvenile hemochromatosis

PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 PMID:15254010 More...

NCBI chrNW_004936867:742,539...747,035
Ensembl chrNW_004936867:742,501...746,930

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 chrNW_004936867:693,797...696,820
Ensembl chrNW_004936867:693,800...696,826

G

hepcidin antimicrobial peptide

ClinVar Annotator: match by term: Hemochromatosis, type 2a, modifier of

PMID:12915468 PMID:19214511 PMID:28492532

NCBI chrNW_004936570:1,009,344...1,010,654
Ensembl chrNW_004936570:1,009,312...1,010,686

G

hemojuvelin BMP co-receptor

ClinVar Annotator: match by term: HJV-related condition | ClinVar Annotator: match by term: Hemochromatosis type 2A

PMID:12482411 PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 More...

NCBI chrNW_004936867:742,539...747,035
Ensembl chrNW_004936867:742,501...746,930

G

RNA polymerase III subunit GL

ClinVar Annotator: match by term: Hemochromatosis type 2A

NCBI chrNW_004936867:698,932...711,170
Ensembl chrNW_004936867:698,932...711,144

G

thioredoxin interacting protein

ClinVar Annotator: match by term: Hemochromatosis type 2A

NCBI chrNW_004936867:722,544...726,595
Ensembl chrNW_004936867:722,514...726,617

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

PMID:12469120 PMID:12915468 PMID:15082576 PMID:15099344 PMID:15198949 More...

NCBI chrNW_004936570:1,009,344...1,010,654
Ensembl chrNW_004936570:1,009,312...1,010,686

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

PMID:9536098 PMID:10802645 PMID:11102989 PMID:11313241 PMID:11358389 More...

NCBI chrNW_004936543:667,570...681,872
Ensembl chrNW_004936543:668,157...682,174

hemochromatosis type 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 40 member 1

ClinVar Annotator: match by term: Hemochromatosis due to defect in ferroportin | ClinVar Annotator: match by term: Hemochromatosis type 4

PMID:9536098 PMID:11431687 PMID:11518736 PMID:12730114 PMID:12857562 More...

NCBI chrNW_004936506:8,396,593...8,415,069
Ensembl chrNW_004936506:8,396,912...8,416,374

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 chrNW_004936581:1,120,681...1,132,226
Ensembl chrNW_004936581:1,120,474...1,132,230

G

ferritin heavy chain 1

ClinVar Annotator: match by term: Hemochromatosis type 5

PMID:11389486 PMID:14615048 PMID:25741868 PMID:28492532

NCBI chrNW_004936581:1,118,905...1,120,592

G

transferrin receptor 2

ClinVar Annotator: match by term: Hereditary hemochromatosis type 5

NCBI chrNW_004936543:667,570...681,872
Ensembl chrNW_004936543:668,157...682,174

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

junctional 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 chrNW_004936684:1,689,594...1,762,066
Ensembl chrNW_004936684:1,692,089...1,762,087

hemosiderosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ceruloplasmin

susceptibility

DNA:splice-site mutation

NCBI chrNW_004936519:6,431,156...6,473,183
Ensembl chrNW_004936519:6,431,144...6,481,858

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

ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome | ClinVar Annotator: match by term: NT5E-related condition

PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532

NCBI chrNW_004936510:5,797,218...5,846,118
Ensembl chrNW_004936510:5,797,212...5,846,124

G

TNF receptor superfamily member 11b

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

NCBI chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089

hereditary hypophosphatemic rickets with hypercalciuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

parathyroid hormone

protein:decreased expression:plasma (mouse)

NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030

G

solute carrier family 34 member 1

OMIM:241530
DNA:deletions, snps:multiple (human)

PMID:16358215 PMID:19570882

RGD:7242924 RGD:7242925

NCBI chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539

G

solute carrier family 34 member 3

ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition

PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 More...

NCBI chrNW_004936669:755,091...760,365
Ensembl chrNW_004936669:755,528...760,522

hypercalcemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcitonin related polypeptide alpha

CTD Direct Evidence: therapeutic

PMID:1115441 PMID:12637657

NCBI chrNW_004936528:3,800,801...3,806,000
Ensembl chrNW_004936528:3,800,577...3,805,004

G

calcitonin receptor

CTD Direct Evidence: therapeutic

NCBI chrNW_004936803:423,558...466,762
Ensembl chrNW_004936803:422,890...466,730

G

calcium sensing receptor

ClinVar Annotator: match by term: Hypercalcemia

PMID:8675635 PMID:8878438 PMID:15591042 PMID:17284438 PMID:19389809 More...

NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936549:7,015,595...7,016,246

G

klotho

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086

G

1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936514:1,467,460...1,480,185
Ensembl chrNW_004936514:1,467,261...1,480,185

G

25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936646:1,899,686...1,904,104
Ensembl chrNW_004936646:1,900,259...1,904,104

G

parathyroid hormone

CTD Direct Evidence: marker/mechanism
associated with Kidney Failure, Chronic

PMID:4004906 PMID:7891547 PMID:9382671 PMID:10638776 PMID:12399635 More...

NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030

G

parathyroid hormone 1 receptor

protein:increased expression:odontoblast; associated with neoplasms

NCBI chrNW_004936596:674,088...693,191
Ensembl chrNW_004936596:674,088...693,213

G

parathyroid hormone like hormone

CTD Direct Evidence: marker/mechanism

PMID:3616618 PMID:10638776 PMID:11054717 PMID:12358896

NCBI chrNW_004936760:197,525...209,212
Ensembl chrNW_004936760:197,525...209,518

G

solute carrier family 34 member 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766

G

TNF receptor superfamily member 11b

CTD Direct Evidence: therapeutic

NCBI chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089

G

TNF superfamily member 11

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936747:1,255,803...1,288,252
Ensembl chrNW_004936747:1,255,803...1,288,252

Hypercalcemia, Infantile, 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

klotho

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086

G

1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial

ClinVar Annotator: match by term: Hypercalcemia, infantile, 1

PMID:3490596 PMID:19961857 PMID:21675912 PMID:22047571 PMID:22100522 More...

NCBI chrNW_004936514:1,467,460...1,480,185
Ensembl chrNW_004936514:1,467,261...1,480,185

Hypercalcemia, Infantile, 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 34 member 1

ClinVar Annotator: match by term: Hypercalcemia, infantile, 2

PMID:9536098 PMID:12324554 PMID:16199547 PMID:16688119 PMID:17576681 More...

NCBI chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539

Hypercalciuria

term browser