mineral metabolism disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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

show annotations for term's descendants Sort by:
Rat (956) Mouse (958) Human (20306) Chinchilla (893) Bonobo (947) Dog (947) Squirrel (906) Pig (931) Green Monkey (936) Naked Mole-rat (896) All
Genes (951) Strains (5)

aceruloplasminemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin II receptor, type 1a

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946

G

ankyrin repeat and ubiquitin domain containing 1

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chr 2:141,857,623...141,894,624
Ensembl chr 2:141,856,573...141,894,339

G

COMM domain containing 2

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chr 2:141,848,661...141,852,907
Ensembl chr 2:141,848,680...141,852,888

G

ceruloplasmin

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

OMIM
ClinVar
MouseDO
CTD

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

NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075

G

carboxypeptidase A3

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chr 2:102,712,483...102,744,219
Ensembl chr 2:102,712,589...102,744,203

G

carboxypeptidase B1

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chr 2:102,755,241...102,785,628
Ensembl chr 2:102,755,241...102,785,628

G

glycogenin 1

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chr 2:102,611,888...102,653,916
Ensembl chr 2:102,598,496...102,653,797

G

helicase-like transcription factor

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chr 2:102,549,724...102,609,492
Ensembl chr 2:102,549,724...102,609,327

G

HPS3, biogenesis of lysosomal organelles complex 2 subunit 1

ClinVar Annotator: match by term: Deficiency of ferroxidase

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

NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047

G

ring finger protein 13

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chr 2:141,927,887...142,061,801
Ensembl chr 2:141,927,909...142,061,801

G

solute carrier family 40 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481

G

transmembrane 4 L six family member 1

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chr 2:141,456,950...141,466,146
Ensembl chr 2:141,453,310...141,466,146

G

transmembrane 4 L six family member 4

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chr 2:141,570,321...141,621,263
Ensembl chr 2:141,481,902...141,621,200

G

WW domain containing transcription regulator 1

ClinVar Annotator: match by term: Deficiency of ferroxidase

PMID:16629161 PMID:28492532

NCBI chr 2:141,651,159...141,766,919
Ensembl chr 2:141,648,108...141,766,968

Aicardi-Goutieres syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase, RNA-specific

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

CTD
ClinVar
MouseDO
RGD

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

NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282

G

ATR interacting protein

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

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

NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477

G

interferon induced with helicase C domain 1

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

PMID:24686847 PMID:25741868

NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456

G

lysine acetyltransferase 5

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458

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 chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041

G

ribonuclease H2, subunit B

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

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

NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118

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 chr 1:202,894,626...202,895,675
Ensembl chr 1:202,894,643...202,897,516

G

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

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

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

NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386

G

TBC/LysM-associated domain containing 2

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

PMID:25741868 PMID:28492532

NCBI chr 3:145,742,381...145,758,847
Ensembl chr 3:145,743,619...145,758,741

G

three prime repair exonuclease 1

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

CTD
ClinVar
MouseDO

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

NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796

G

ubiquitin specific peptidase 18

CTD Direct Evidence: marker/mechanism

NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144

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 chr 8:108,741,899...108,743,425
Ensembl chr 8:108,693,060...108,744,555

G

aminomethyltransferase

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126

G

acylaminoacyl-peptide hydrolase

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,773,791...108,782,903
Ensembl chr 8:108,773,794...108,782,933

G

ariadne RBR E3 ubiquitin protein ligase 2

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,296,738...109,355,909
Ensembl chr 8:109,296,738...109,355,852

G

ATR interacting protein

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

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

NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477

G

bassoon (presynaptic cytomatrix protein)

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,784,849...108,875,819
Ensembl chr 8:108,788,542...108,875,819

G

similar to human chromosome 3 open reading frame 62

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,080,032...109,084,588
Ensembl chr 8:109,036,030...109,097,895

G

CaM kinase-like vesicle-associated

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,626,821...108,641,169
Ensembl chr 8:108,626,821...108,641,169

G

coiled-coil domain containing 71

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,146,650...109,161,749
Ensembl chr 8:109,146,359...109,165,216

G

cadherin-related family member 4

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,682,594...108,690,358
Ensembl chr 8:108,682,613...108,690,367

G

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

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,530,597...109,558,360
Ensembl chr 8:109,530,641...109,558,354

G

ciliary microtubule inner protein 7

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,131,138...109,140,784
Ensembl chr 8:109,124,762...109,140,791

G

collagen type VII alpha 1 chain

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252

G

dystroglycan 1

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325

G

DALR anticodon binding domain containing 3

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,264,100...109,268,560
Ensembl chr 8:109,265,676...109,268,568

G

DNA cross-link repair 1C

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

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

NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186

G

GDP-mannose pyrophosphorylase B

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,737,429...108,740,437
Ensembl chr 8:108,693,060...108,767,286

G

G protein subunit alpha i2

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979

G

G protein subunit alpha transducin 1

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671

G

glutathione peroxidase 1

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

PMID:16845398 PMID:28492532

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

G

hyaluronidase 1

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,250,668...108,254,519
Ensembl chr 8:108,250,667...108,260,210

G

hyaluronidase 3

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,254,385...108,260,020
Ensembl chr 8:108,250,667...108,260,647

G

interferon-related developmental regulator 2

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,260,969...108,266,191
Ensembl chr 8:108,260,969...108,266,194

G

interactor of HORMAD1 1

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,091,134...109,126,386
Ensembl chr 8:109,092,758...109,125,434

G

inosine monophosphate dehydrogenase 2

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,256,705...109,261,365
Ensembl chr 8:109,256,728...109,261,359

G

inka box actin regulator 1

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,674,263...108,675,953
Ensembl chr 8:108,674,263...108,675,953

G

inositol hexakisphosphate kinase 1

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,693,068...108,737,278

G

inositol hexakisphosphate kinase 2

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,483,843...109,510,172
Ensembl chr 8:109,484,310...109,510,166

G

kelch domain containing 8B

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,141,594...109,146,584
Ensembl chr 8:109,141,594...109,146,918

G

laminin subunit beta 2

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549

G

leucine-rich single-pass membrane protein 2

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,265,855...108,270,656
Ensembl chr 8:108,266,345...108,279,115

G

microRNA 191

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,264,098...109,264,188

G

MON1 homolog A, secretory trafficking associated

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,574,272...108,593,163
Ensembl chr 8:108,574,388...108,593,156

G

macrophage stimulating 1

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,767,886...108,773,425
Ensembl chr 8:108,768,839...108,773,416

G

macrophage stimulating 1 receptor

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455

G

N(alpha)-acetyltransferase 80, NatH catalytic subunit

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,254,314...108,257,564
Ensembl chr 8:108,253,302...108,257,563

G

NCK interacting protein with SH3 domain

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,511,484...109,522,622
Ensembl chr 8:109,511,658...109,522,246

G

NADH:ubiquinone oxidoreductase complex assembly factor 3

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,261,362...109,263,194
Ensembl chr 8:109,261,363...109,263,194

G

nicolin 1, tubulin polyglutamylase complex subunit

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067

G

prolyl 4-hydroxylase, transmembrane

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,274,629...109,292,802
Ensembl chr 8:109,274,626...109,292,473

G

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

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,643,558...109,687,006
Ensembl chr 8:109,643,937...109,685,634

G

protein kinase cAMP-dependent type II regulatory subunit alpha

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,393,189...109,458,832
Ensembl chr 8:109,395,833...109,455,628

G

glutaminyl-tRNA synthetase 1

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739

G

glutamine-rich 1

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,216,900...109,256,472
Ensembl chr 8:109,217,376...109,261,359

G

RNA binding motif protein 5

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,420,220...108,449,481
Ensembl chr 8:108,420,222...108,449,430

G

RNA binding motif protein 6

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,452,687...108,552,783
Ensembl chr 8:108,452,687...108,552,771

G

ras homolog family member A

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746

G

ribonuclease H2, subunit B

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

NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118

G

ring finger protein 123

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,740,176...108,768,177
Ensembl chr 8:108,739,620...108,767,675

G

semaphorin 3B

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,271,663...108,280,326
Ensembl chr 8:108,271,666...108,282,919

G

semaphorin 3F

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,357,629...108,386,569
Ensembl chr 8:108,357,629...108,387,083

G

shisa family member 5

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,691,504...109,706,411
Ensembl chr 8:109,691,522...109,706,408

G

solute carrier family 25 member 20

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,365,056...109,386,512
Ensembl chr 8:109,365,002...109,386,512

G

solute carrier family 26 member 6

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,558,968...109,569,778
Ensembl chr 8:109,559,642...109,569,778

G

solute carrier family 38, member 3

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,323,889...108,339,959
Ensembl chr 8:108,323,894...108,339,988

G

T-cell leukemia translocation altered

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,988,588...108,992,324
Ensembl chr 8:108,988,590...108,991,564

G

transmembrane protein 89

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,571,377...109,572,271
Ensembl chr 8:109,571,377...109,572,271

G

TRAF-interacting protein

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,641,860...108,661,640
Ensembl chr 8:108,641,852...108,661,638

G

three prime repair exonuclease 1

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

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

NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796

G

ubiquitin-like modifier activating enzyme 7

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

PMID:16845398 PMID:28492532

NCBI chr 8:108,665,289...108,674,097
Ensembl chr 8:108,665,292...108,674,099

G

urocortin 2

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,637,624...109,639,173
Ensembl chr 8:109,638,285...109,639,172

G

ubiquinol-cytochrome c reductase core protein 1

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,589,735...109,601,481
Ensembl chr 8:109,589,706...109,601,480

G

ubiquitin specific peptidase 19

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,190,727...109,201,761
Ensembl chr 8:109,190,724...109,201,741

G

ubiquitin specific peptidase 4

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,035,402...109,079,382
Ensembl chr 8:109,036,099...109,080,427

G

WD repeat domain 6

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

PMID:16845398 PMID:28492532

NCBI chr 8:109,268,079...109,274,504
Ensembl chr 8:109,268,079...109,274,499

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 chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118

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 chr 1:202,159,081...202,175,012
Ensembl chr 1:202,159,082...202,175,012

G

aminoacylase 3

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

NCBI chr 1:201,279,751...201,285,803
Ensembl chr 1:201,279,851...201,283,175

G

aryl-hydrocarbon receptor-interacting protein

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

NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122

G

aldehyde dehydrogenase 3 family, member B1

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

NCBI chr 1:201,145,309...201,162,675
Ensembl chr 1:201,145,309...201,163,921

G

aldehyde dehydrogenase 3 family, member B2

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

NCBI chr 1:201,250,260...201,264,699
Ensembl chr 1:201,253,157...201,264,705
Ensembl chr 1:201,253,157...201,264,705

G

aldehyde dehydrogenase 3 family, member B3

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

NCBI chr 1:201,193,832...201,201,666
Ensembl chr 1:201,187,962...201,250,204

G

ankyrin repeat domain 13D

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

NCBI chr 1:201,565,712...201,577,987
Ensembl chr 1:201,565,712...201,577,933

G

anoctamin 1

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

NCBI chr 1:199,751,439...199,900,099
Ensembl chr 1:199,751,439...199,900,069

G

adaptor related protein complex 5 subunit beta 1

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

PMID:28492532 PMID:28600438

NCBI chr 1:202,876,272...202,880,303
Ensembl chr 1:202,876,272...202,880,289

G

beta-1,4-glucuronyltransferase 1

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

NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065

G

barrier to autointegration nuclear assembly factor 1

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

NCBI chr 1:202,672,170...202,674,215
Ensembl chr 1:202,671,305...202,674,188

G

Bardet-Biedl syndrome 1

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

NCBI chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086

G

basophilic leukemia expressed protein BLES03

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

NCBI chr 1:202,734,555...202,736,809
Ensembl chr 1:202,734,555...202,736,804

G

BRMS1, transcriptional repressor and anoikis regulator

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

NCBI chr 1:202,345,766...202,355,028
Ensembl chr 1:202,345,704...202,355,028

G

similar to human chromosome 11 open reading frame 24

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

NCBI chr 1:200,945,188...200,953,953
Ensembl chr 1:200,945,180...200,962,585

G

similar to human chromosome 11 open reading frame 86

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

NCBI chr 1:201,784,009...201,785,916
Ensembl chr 1:201,784,009...201,785,916

G

calcium binding protein 2

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

NCBI chr 1:201,374,649...201,380,469
Ensembl chr 1:201,375,276...201,380,469

G

calcium binding protein 4

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

NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172

G

calpain 1

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

NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177

G

carnosine synthase 1

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

NCBI chr 1:201,459,061...201,470,019
Ensembl chr 1:201,459,076...201,469,845

G

cation channel, sperm associated 1

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

NCBI chr 1:202,643,009...202,652,059
Ensembl chr 1:202,643,038...202,651,824

G

coiled-coil domain containing 85B

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

NCBI chr 1:202,763,645...202,764,660
Ensembl chr 1:202,763,631...202,764,703

G

coiled-coil domain containing 87

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

NCBI chr 1:202,135,021...202,137,717
Ensembl chr 1:202,134,963...202,138,337

G

cyclin D1

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

NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602

G

copper chaperone for superoxide dismutase

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

NCBI chr 1:202,113,792...202,134,931
Ensembl chr 1:202,113,804...202,134,915

G

CD248 molecule

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

NCBI chr 1:202,373,676...202,376,240
Ensembl chr 1:202,373,676...202,376,240

G

CDC42 effector protein 2

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

NCBI chr 1:203,202,000...203,210,891
Ensembl chr 1:203,201,873...203,210,897

G

cyclin-dependent kinase 2 associated protein 2

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

NCBI chr 1:201,391,056...201,393,137
Ensembl chr 1:201,391,466...201,393,137

G

cofilin 1

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

PMID:28492532 PMID:28600438

NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587

G

choline kinase alpha

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

NCBI chr 1:201,076,804...201,125,517
Ensembl chr 1:201,076,860...201,125,516

G

cardiotrophin-like cytokine factor 1

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

NCBI chr 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605

G

cornichon family AMPA receptor auxiliary protein 2

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

NCBI chr 1:202,399,416...202,405,110
Ensembl chr 1:202,399,419...202,405,089

G

coronin 1B

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

NCBI chr 1:201,442,977...201,448,416
Ensembl chr 1:201,443,014...201,448,416

G

carnitine palmitoyltransferase 1A

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

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

G

cystatin E/M

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

NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030

G

cathepsin F

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

NCBI chr 1:202,152,777...202,158,525
Ensembl chr 1:202,152,728...202,158,525

G

cathepsin W

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

NCBI chr 1:202,772,395...202,777,021
Ensembl chr 1:202,772,572...202,775,964

G

double PHD fingers 2

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

NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983

G

dipeptidylpeptidase 3

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

NCBI chr 1:202,204,683...202,228,501
Ensembl chr 1:202,204,693...202,228,541

G

Dr1 associated protein 1

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

NCBI chr 1:202,731,775...202,734,468
Ensembl chr 1:202,731,788...202,734,425

G

EGF containing fibulin extracellular matrix protein 2

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

PMID:28492532 PMID:28600438

NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414

G

EH domain binding protein 1-like 1

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

PMID:28492532 PMID:28600438

NCBI chr 1:202,994,115...203,014,320
Ensembl chr 1:202,994,118...203,014,270

G

eukaryotic translation initiation factor 1A domain containing

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

NCBI chr 1:202,674,362...202,679,662
Ensembl chr 1:202,674,185...202,679,658

G

Fas associated via death domain

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

NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653

G

family with sequence similarity 89, member B

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

PMID:28492532 PMID:28600438

NCBI chr 1:203,015,772...203,017,890
Ensembl chr 1:203,015,773...203,017,367

G

fibroblast growth factor 19

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

NCBI chr 1:200,056,526...200,060,980
Ensembl chr 1:200,056,644...200,060,287

G

fibroblast growth factor 3

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

NCBI chr 1:200,001,162...200,005,539
Ensembl chr 1:200,001,261...200,005,187

G

fibroblast growth factor 4

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

NCBI chr 1:200,023,937...200,027,793
Ensembl chr 1:200,024,056...200,025,466

G

FGF1 intracellular binding protein

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

NCBI chr 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399

G

FOS like 1, AP-1 transcription factor subunit

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

NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930

G

FERM domain containing 8

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

NCBI chr 1:203,143,216...203,163,868
Ensembl chr 1:203,143,218...203,163,870

G

galanin and GMAP prepropeptide

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

NCBI chr 1:200,650,439...200,655,302
Ensembl chr 1:200,650,439...200,654,959

G

galactose-3-O-sulfotransferase 3

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

NCBI chr 1:202,593,635...202,603,446
Ensembl chr 1:202,593,692...202,603,445

G

G protein-coupled receptor 152

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

NCBI chr 1:201,435,878...201,438,373
Ensembl chr 1:201,435,884...201,437,443

G

G protein-coupled receptor kinase 2

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

NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582

G

glutathione S-transferase pi 1

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

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

G

immunoglobulin mu DNA binding protein 2

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

NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514

G

lysine acetyltransferase 5

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

PMID:25741868 PMID:28492532 PMID:28600438

NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458

G

potassium two pore domain channel subfamily K member 7

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

PMID:28492532 PMID:28600438

NCBI chr 1:202,988,801...202,992,842
Ensembl chr 1:202,990,198...202,992,872

G

lysine demethylase 2A

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

NCBI chr 1:201,612,427...201,682,359
Ensembl chr 1:201,612,453...201,680,787

G

kinesin light chain 2

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

NCBI chr 1:202,414,555...202,424,787
Ensembl chr 1:202,414,557...202,424,672

G

lysine methyltransferase 5B

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

NCBI chr 1:201,000,444...201,049,819
Ensembl chr 1:201,000,444...201,049,819

G

leucine rich repeat and fibronectin type III domain containing 4

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

NCBI chr 1:201,888,569...201,891,861
Ensembl chr 1:201,888,569...201,891,861

G

LDL receptor related protein 5

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

NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581

G

latent transforming growth factor beta binding protein 3

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

PMID:28492532 PMID:28600438

NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975

G

LTO1 maturation factor of ABCE1

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

NCBI chr 1:200,074,247...200,080,951
Ensembl chr 1:200,074,253...200,088,061

G

mitogen-activated protein kinase kinase kinase 11

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

PMID:28492532 PMID:28600438

NCBI chr 1:202,975,353...202,988,655
Ensembl chr 1:202,975,353...202,988,652

G

MAS related GPR family member D

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

NCBI chr 1:200,479,204...200,487,902
Ensembl chr 1:200,485,189...200,486,148

G

MAS related GPR family member F

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

NCBI chr 1:200,464,100...200,473,588
Ensembl chr 1:200,463,973...200,473,660

G

mitochondrial ribosomal protein L11

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

NCBI chr 1:202,264,419...202,267,288
Ensembl chr 1:202,264,471...202,267,756

G

mitochondrial ribosomal protein L21

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

NCBI chr 1:200,529,416...200,542,568
Ensembl chr 1:200,529,416...200,537,896

G

MUS81 structure-specific endonuclease subunit

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

PMID:28492532 PMID:28600438

NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843

G

NADH:ubiquinone oxidoreductase core subunit S8

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

NCBI chr 1:201,140,585...201,144,573
Ensembl chr 1:201,140,585...201,144,511

G

NADH:ubiquinone oxidoreductase core subunit V1

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

NCBI chr 1:201,300,365...201,305,461
Ensembl chr 1:201,299,985...201,305,466

G

neuronal PAS domain protein 4

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

NCBI chr 1:202,281,260...202,298,681
Ensembl chr 1:202,281,958...202,286,724

G

nudix hydrolase 8

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

NCBI chr 1:201,293,660...201,295,233
Ensembl chr 1:201,292,619...201,295,224

G

ovo like transcriptional repressor 1

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

PMID:28492532 PMID:28600438

NCBI chr 1:202,855,261...202,868,858
Ensembl chr 1:202,855,265...202,866,831

G

phosphofurin acidic cluster sorting protein 1

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

NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473

G

pyruvate carboxylase

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

NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380

G

pecanex 3

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

PMID:28492532 PMID:28600438

NCBI chr 1:202,951,322...202,974,167
Ensembl chr 1:202,951,322...202,976,561

G

pellino E3 ubiquitin protein ligase family member 3

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

NCBI chr 1:202,230,034...202,242,900
Ensembl chr 1:202,232,228...202,242,857

G

phosphatidylinositol transfer protein, membrane-associated 1

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

NCBI chr 1:201,394,099...201,407,523
Ensembl chr 1:201,394,149...201,407,522

G

DNA polymerase alpha 2, accessory subunit

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

NCBI chr 1:203,227,183...203,251,350
Ensembl chr 1:203,203,388...203,251,348

G

DNA polymerase delta 4, accessory subunit

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

NCBI chr 1:201,526,591...201,528,406
Ensembl chr 1:201,526,665...201,528,401

G

protein phosphatase 1 catalytic subunit alpha

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

NCBI chr 1:201,485,117...201,488,734
Ensembl chr 1:201,485,085...201,497,327

G

protein phosphatase 6, regulatory subunit 3

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

NCBI chr 1:200,693,128...200,807,578
Ensembl chr 1:200,693,440...200,807,548

G

protein tyrosine phosphatase, receptor type, C-associated protein

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

NCBI chr 1:201,449,133...201,451,293
Ensembl chr 1:201,449,113...201,451,288

G

RAB1B, member RAS oncogene family

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

NCBI chr 1:202,405,759...202,413,850
Ensembl chr 1:202,405,759...202,413,868
Ensembl chr X:202,405,759...202,413,868

G

RAD9 checkpoint clamp component A

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

NCBI chr 1:201,488,511...201,553,582
Ensembl chr 1:201,487,136...201,553,608

G

RNA binding motif protein 14

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

NCBI chr 1:202,076,940...202,105,688
Ensembl chr 1:202,078,287...202,105,665
Ensembl chr 1:202,078,287...202,105,665

G

RNA binding motif protein 4

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

NCBI chr 1:202,078,442...202,087,506
Ensembl chr 1:202,085,279...202,105,380

G

RNA binding motif protein 4B

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

NCBI chr 1:202,047,934...202,058,025
Ensembl chr 1:202,047,927...202,058,020

G

Ras converting CAAX endopeptidase 1

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

NCBI chr 1:201,899,358...201,902,593
Ensembl chr 1:201,899,358...201,902,484

G

RELA proto-oncogene, NF-kB subunit

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

PMID:28492532 PMID:28600438

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

G

ras homolog family member D

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

NCBI chr 1:201,708,699...201,724,405
Ensembl chr 1:201,708,699...201,722,632

G

Ras and Rab interactor 1

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

NCBI chr 1:202,355,729...202,362,731
Ensembl chr 1:202,355,890...202,362,729

G

ribonuclease H2, subunit C

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

OMIM
ClinVar
CTD

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

NCBI chr 1:202,894,626...202,895,675
Ensembl chr 1:202,894,643...202,897,516

G

ribosomal protein S6 kinase B2

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

NCBI chr 1:201,451,265...201,458,096
Ensembl chr 1:201,451,265...201,458,078

G

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

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

NCBI chr 1:202,690,472...202,699,136
Ensembl chr 1:202,690,459...202,699,136

G

SCY1 like pseudokinase 1

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

NCBI chr 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533

G

splicing factor 3b, subunit 2

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

NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759

G

signal-induced proliferation-associated 1

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

PMID:28492532 PMID:28600438

NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591

G

solute carrier family 25, member 45

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

NCBI chr 1:203,166,362...203,174,473
Ensembl chr 1:203,166,683...203,174,473

G

solute carrier family 29 member 2

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

NCBI chr 1:202,327,641...202,335,185
Ensembl chr 1:202,327,354...202,335,171

G

sorting nexin 32

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

PMID:28492532 PMID:28600438

NCBI chr 1:202,801,090...202,818,731
Ensembl chr 1:202,802,394...202,818,743

G

spectrin, beta, non-erythrocytic 2

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

NCBI chr 1:202,002,970...202,045,343
Ensembl chr 1:202,002,970...202,044,283

G

slingshot protein phosphatase 3

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

NCBI chr 1:201,557,167...201,565,577
Ensembl chr 1:201,557,169...201,564,753

G

synaptotagmin 12

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

NCBI chr 1:201,729,307...201,760,192
Ensembl chr 1:201,730,371...201,759,609

G

TBC1 domain family, member 10C

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

NCBI chr 1:201,476,258...201,484,876
Ensembl chr 1:201,477,157...201,564,920

G

T-box transcription factor 10

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

NCBI chr 1:201,285,729...201,292,676
Ensembl chr 1:201,279,829...201,292,601

G

T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3

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

NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742

G

testis expressed metallothionein like protein

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

NCBI chr 1:200,629,688...200,648,434
Ensembl chr 1:200,630,144...200,648,433

G

tigger transposable element derived 3

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

NCBI chr 1:203,178,456...203,182,775
Ensembl chr 1:203,178,460...203,181,272

G

transmembrane protein 134

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

NCBI chr 1:201,419,225...201,424,778
Ensembl chr 1:201,419,264...201,431,411

G

transmembrane protein 151A

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

NCBI chr 1:202,387,397...202,392,182
Ensembl chr 1:202,388,240...202,392,182

G

TOP6B like initiator of meiotic double strand breaks

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

NCBI chr 1:201,902,564...201,989,945

G

two pore segment channel 2

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

NCBI chr 1:200,416,538...200,446,252
Ensembl chr 1:200,416,540...200,446,236

G

testis specific 10 interacting protein

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

NCBI chr 1:202,700,576...202,714,668
Ensembl chr 1:202,700,578...202,714,798

G

unc-93 homolog B1, TLR signaling regulator

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

NCBI chr 1:201,167,388...201,178,343
Ensembl chr 1:201,152,693...201,178,338

G

Yip1 interacting factor homolog A, membrane trafficking protein

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

NCBI chr 1:202,394,923...202,399,125
Ensembl chr 1:202,394,897...202,399,427

G

zinc finger, DHHC-type containing 24

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

NCBI chr 1:202,175,832...202,181,943
Ensembl chr 1:202,175,807...202,182,880

G

zinc ribbon domain containing 2

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

PMID:28492532 PMID:28600438

NCBI chr 1:203,017,682...203,019,465
Ensembl chr 1:203,017,682...203,019,465

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 chr19:23,142,324...23,148,351
Ensembl chr19:23,141,602...23,148,339

G

calcium voltage-gated channel subunit alpha1 A

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

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

NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225

G

calreticulin

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

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

NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414

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 chr19:23,330,917...23,340,486
Ensembl chr19:23,334,164...23,339,589

G

deoxyhypusine synthase

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

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

NCBI chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881

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 chr19:23,244,656...23,247,376
Ensembl chr19:23,244,664...23,247,376

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 chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980

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 chr19:23,090,534...23,097,439
Ensembl chr19:23,090,534...23,097,439

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 chr19:23,320,662...23,323,211
Ensembl chr19:23,320,159...23,323,236

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 chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681

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 chr19:23,130,109...23,138,196
Ensembl chr19:23,130,109...23,138,193

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 chr19:23,151,869...23,170,139
Ensembl chr19:23,151,870...23,164,181

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 chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211

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 chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035

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 chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758

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 chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007

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 chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389

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 chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235

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 chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528

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 chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265

G

peroxiredoxin 2

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

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

NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194

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 chr19:23,313,563...23,320,702
Ensembl chr19:23,314,797...23,320,695

G

ribonuclease H2, subunit A

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

OMIM
ClinVar
CTD

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

NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041

G

retbindin

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

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

NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438

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 chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980

G

transportin 2

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

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

NCBI chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596

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 chr19:23,125,083...23,128,502
Ensembl chr19:23,125,083...23,128,510

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 chr19:23,456,756...23,471,581
Ensembl chr19:23,456,756...23,466,956

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 chr19:23,076,948...23,082,569
Ensembl chr19:23,077,010...23,082,563

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 chr19:23,075,373...23,076,745
Ensembl chr19:23,075,376...23,076,894

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 chr 3:146,222,699...146,232,859
Ensembl chr 3:146,222,240...146,232,909

G

catenin, beta like 1

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

NCBI chr 3:146,387,940...146,548,987
Ensembl chr 3:146,387,889...146,548,987

G

growth hormone releasing hormone

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

NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889

G

mannosidase beta like

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

NCBI chr 3:146,035,082...146,064,676
Ensembl chr 3:146,035,066...146,064,676

G

maestro heat-like repeat family member 8

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

NCBI chr 3:145,873,995...145,942,439
Ensembl chr 3:145,873,996...145,942,319

G

neuronatin

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

NCBI chr 3:146,225,941...146,228,868
Ensembl chr 3:146,226,407...146,228,834

G

RB transcriptional corepressor like 1

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

NCBI chr 3:145,806,160...145,869,434
Ensembl chr 3:145,807,095...145,869,330

G

ribophorin II

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

NCBI chr 3:145,941,787...145,989,271
Ensembl chr 3:145,941,839...145,989,543

G

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

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

OMIM
ClinVar
CTD

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

NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386

G

SRC proto-oncogene, non-receptor tyrosine kinase

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

NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476

G

TBC/LysM-associated domain containing 2

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

PMID:25741868 PMID:28492532

NCBI chr 3:145,742,381...145,758,847
Ensembl chr 3:145,743,619...145,758,741

Aicardi-Goutieres Syndrome 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase, RNA-specific

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

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

NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282

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:16199547 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25243380 More...

NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456

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 chr10:30,367,841...30,385,956
Ensembl chr10:30,370,727...30,385,944

Aicardi-Goutieres Syndrome 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gene rich cluster, C10 gene

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

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

NCBI chr 4:157,551,276...157,552,924

Albright's hereditary osteodystrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GNAS complex locus

ClinVar Annotator: match by term: Albright hereditary osteodystrophy with multiple hormone resistance | ClinVar Annotator: match by term: PHP IA | ClinVar Annotator: match by term: PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS | ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IA | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1A
OMIM:103580
DNA:deletions:exon:multiple
DNA:splice-site mutation

OMIM
ClinVar
MouseDO
RGD

PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2109828 More...

RGD:11568049, RGD:11568047

NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262

G

parathyroid hormone-like hormone

OMIM:103580

NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847

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 chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672

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 chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041

Aortic Calcification

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

advanced glycosylation end product-specific receptor

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

RGD

NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078

G

angiotensinogen

RGD

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

G

ATP synthase F1 subunit delta

treatment

associated with Hypercholesterolemia

RGD

NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

RGD

NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715

G

gastrin releasing peptide

treatment

associated with chronic kidney disease

RGD

NCBI chr18:59,388,679...59,402,061
Ensembl chr18:59,388,274...59,402,061

G

gelsolin

disease_progression

protein:decreased expression:blood (human)

RGD

NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402

G

superoxide dismutase 1

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

RGD

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

G

superoxide dismutase 2

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

RGD

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

G

vitamin K epoxide reductase complex, subunit 1

susceptibility

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

RGD

NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008

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 chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

mRNA:increased expression:aorta (rat)

RGD

NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715

G

GATA binding protein 5

ClinVar Annotator: match by term: Aortic valve disease 1

PMID:28387797 PMID:28492532 PMID:30675029

NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751

G

interleukin 6

severity

RGD

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

G

notch receptor 1

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

ClinVar
OMIM
RGD

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

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

SMAD family member 6

ClinVar Annotator: match by term: Aortic valve disease 1

PMID:28492532 PMID:30796334

NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763

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 chr 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175

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 chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

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

ClinVar
MouseDO
CTD
RGD

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

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

NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715

autosomal dominant hypocalcemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amelogenin, X-linked

RGD

NCBI chr X:25,076,362...25,087,660
Ensembl chr X:25,076,362...25,087,660

G

bone gamma-carboxyglutamate protein

RGD

NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495

G

calcium-sensing receptor

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

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

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

NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811

G

cytochrome P450, family 27, subfamily b, polypeptide 1

RGD

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

G

parathyroid hormone

protein:increased expression:serum (rat)

RGD

NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530

autosomal dominant hypocalcemia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium-sensing receptor

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

MouseDO
OMIM
ClinVar

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

NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811

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

OMIM:615361
ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 2

OMIM
MouseDO
ClinVar

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

NCBI chr 7:8,163,520...8,177,863
Ensembl chr 7:8,162,750...8,179,812

Autosomal Dominant Hypocalcemia, with Bartter Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium-sensing receptor

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

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

NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811

autosomal dominant hypophosphatemic rickets

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 23

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

MouseDO
CTD
ClinVar
OMIM
RGD

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

RGD:1598933, RGD:10044239

NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821

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 chr X:37,607,553...37,856,183
Ensembl chr X:37,610,760...37,854,469

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: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312

ClinVar
MouseDO

NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323

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 chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715

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

G

solute carrier family 20 member 2

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

NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711

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

G

CD40 ligand

treatment

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

delta like canonical Notch ligand 4

ameliorates

RGD

NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931

G

heat shock protein family D (Hsp60) member 1

severity

RGD

NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662

G

Meis homeobox 2

mRNA,protein:decreased expression:aortic valve:

RGD

NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

prostaglandin-endoperoxide synthase 2

disease_progression

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

PMID:25722432 PMID:25722432

RGD:13207434, RGD:13207434

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

G

parathyroid hormone

disease_progression

protein:increased expression:serum (rat)

RGD

NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530

G

protein tyrosine phosphatase, non-receptor type 1

protein:increased expression:aortic valve (human)

RGD

NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504

G

solute carrier family 20 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,427,095...116,441,049
Ensembl chr 3:116,427,098...116,441,051

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

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 chr11:78,121,388...78,127,998
Ensembl chr11:78,117,918...78,145,999

G

alkaline phosphatase, biomineralization associated

CTD Direct Evidence: marker/mechanism

NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446

G

bone gamma-carboxyglutamate protein

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

CTD
RGD

PMID:21335463 PMID:20197689 PMID:18422975

RGD:6483566, RGD:9068449

NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495

G

bone morphogenetic protein 2

CTD Direct Evidence: marker/mechanism

PMID:30963258 PMID:31843813

NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397

G

bone morphogenetic protein 4

protein:increased expression:dermis:

RGD

NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306

G

complement C6

CTD Direct Evidence: marker/mechanism

NCBI chr 2:53,846,028...53,921,279
Ensembl chr 2:53,851,985...53,921,275

G

caspase 3

CTD Direct Evidence: marker/mechanism

NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

PMID:21193197 PMID:21335463

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

G

C-C motif chemokine ligand 9

CTD Direct Evidence: marker/mechanism

NCBI chr10:68,366,486...68,371,408
Ensembl chr10:68,366,487...68,371,369

G

collagen type XVIII alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593

G

collagen type I alpha 1 chain

CTD Direct Evidence: marker/mechanism

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

G

CST telomere replication complex component 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298

G

catenin beta 1

protein:increased expression:dermis:

RGD

NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111

G

dystrophin

CTD Direct Evidence: marker/mechanism

NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207

G

erythropoietin

CTD Direct Evidence: marker/mechanism

NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946

G

erb-b2 receptor tyrosine kinase 2

associated with Breast Neoplasms;protein:increased expression:breast

RGD

NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078

G

Fc gamma receptor 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 2:183,851,075...183,860,077
Ensembl chr 2:183,851,077...183,859,994

G

fibroblast growth factor 23

CTD Direct Evidence: marker/mechanism

NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821

G

polypeptide N-acetylgalactosaminyltransferase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268

G

glutathione peroxidase 1

susceptibility

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

RGD

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

G

interleukin 18

CTD Direct Evidence: marker/mechanism

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

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

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

G

integrin subunit beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195

G

integrin subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600

G

Janus kinase 2

CTD Direct Evidence: marker/mechanism

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

G

Klotho

CTD Direct Evidence: marker/mechanism

NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080

G

lipocalin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095

G

lymphocyte-specific protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:197,614,677...197,648,414
Ensembl chr 1:197,614,687...197,648,416

G

lymphocyte antigen 86

CTD Direct Evidence: marker/mechanism

NCBI chr17:27,415,807...27,499,695
Ensembl chr17:27,415,830...27,487,260

G

matrix Gla protein

RGD

NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

PMID:15545515 PMID:21193197

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

PMID:15545515 PMID:21193197

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

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

nuclear receptor subfamily 1, group I, member 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658

G

platelet derived growth factor subunit B

CTD Direct Evidence: marker/mechanism

NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984

G

platelet derived growth factor receptor beta

CTD Direct Evidence: marker/mechanism

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

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664

G

protein tyrosine phosphatase, non-receptor type 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984

G

PYD and CARD domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955

G

receptor-interacting serine-threonine kinase 3

CTD Direct Evidence: marker/mechanism

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

G

solute carrier family 20 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711

G

solute carrier family 22 member 6

CTD Direct Evidence: marker/mechanism

NCBI chr 1:205,522,579...205,531,179
Ensembl chr 1:205,522,729...205,531,173

G

snail family transcriptional repressor 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:86,182,788...86,186,203
Ensembl chr11:86,181,909...86,186,200

G

secreted protein acidic and cysteine rich

protein:increased expression:dermis:

RGD

NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396

G

sialophorin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:181,746,937...181,759,564
Ensembl chr 1:181,746,429...181,759,628

G

secreted phosphoprotein 1

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

CTD
RGD

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

RGD:6903869, RGD:9068449

NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162

G

transforming growth factor, beta 1

CTD Direct Evidence: marker/mechanism

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

G

TIMP metallopeptidase inhibitor 1

CTD Direct Evidence: marker/mechanism

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

G

TIMP metallopeptidase inhibitor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

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

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

xenotropic and polytropic retrovirus receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:67,441,205...67,585,950
Ensembl chr13:67,446,380...67,585,946

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

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

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

NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298

G

STN1 subunit of CST complex

CTD Direct Evidence: marker/mechanism

NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531

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 chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298

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 chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420

Cerebroretinal Microangiopathy with Calcifications and Cysts 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

STN1 subunit of CST complex

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

PMID:25741868 PMID:27432940 PMID:28492532

NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531

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 chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042

Cole Disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

susceptibility

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 chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715

Coronary Artery Calcification

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphatase and actin regulator 1

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

RGD

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

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

NCBI chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831

G

TNF receptor superfamily member 11B

severity

associated with Kidney Failure, Chronic

RGD

NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538

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

RGD

NCBI chr14:21,988,067...22,046,732
Ensembl chr14:21,988,144...22,055,476

G

fibrillin 1

RGD

NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889

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

OMIM:106400

NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203

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 chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974

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 chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811

G

coiled-coil domain containing 14

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:66,052,063...66,087,915
Ensembl chr11:66,052,620...66,087,956

G

CD86 molecule

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818

G

cystatin A

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

PMID:11807402 PMID:20798521 PMID:28492532

NCBI chr11:64,620,483...64,631,488
Ensembl chr11:64,620,483...64,631,488

G

deltex E3 ubiquitin ligase 3L

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:64,814,926...64,824,539
Ensembl chr11:64,814,926...64,824,538

G

ELL associated factor 2

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:63,960,200...64,004,610
Ensembl chr11:63,960,200...64,004,610

G

family with sequence similarity 162, member A

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:64,680,978...64,709,865
Ensembl chr11:64,680,323...64,711,239

G

glyoxylate and hydroxypyruvate reductase

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

PMID:25741868 PMID:28492532

NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603

G

3-hydroxyacyl-CoA dehydratase 2

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:65,667,671...65,762,903
Ensembl chr11:65,670,281...65,762,889

G

heart development protein with EGF-like domains 1

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:67,006,954...67,095,020
Ensembl chr11:66,957,190...67,095,051

G

hypoxanthine phosphoribosyltransferase 1

ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis

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

NCBI chr X:132,736,175...132,768,149
Ensembl chr X:132,736,096...132,768,154

G

HSPB1 associated protein 1

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:64,940,089...64,994,753
Ensembl chr11:64,940,091...64,994,756

G

immunoglobulin-like domain containing receptor 1

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:64,085,774...64,118,760
Ensembl chr11:64,008,566...64,118,760

G

IQ motif containing B1

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093

G

integrin subunit beta 5

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:66,828,428...66,944,231
Ensembl chr11:66,829,285...66,944,472

G

kalirin, RhoGEF kinase

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:66,198,155...66,803,166
Ensembl chr11:66,198,173...66,797,610

G

karyopherin subunit alpha 1

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:64,715,844...64,774,647
Ensembl chr11:64,717,563...64,774,623

G

mitochondrial matrix import factor 23

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:64,660,711...64,681,000
Ensembl chr11:64,660,711...64,681,000

G

mucin 13, cell surface associated

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:66,957,208...66,980,264
Ensembl chr11:66,960,595...66,984,727

G

myosin light chain kinase

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261

G

OCRL, inositol polyphosphate-5-phosphatase

ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis

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

NCBI chr X:127,089,508...127,140,362
Ensembl chr X:127,089,590...127,140,362

G

oxysterol binding protein-like 11

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:67,533,669...67,616,795
Ensembl chr11:67,533,672...67,596,444

G

poly (ADP-ribose) polymerase family, member 14

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:64,902,848...64,934,916
Ensembl chr11:64,902,785...64,934,916

G

poly (ADP-ribose) polymerase family, member 9

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:64,780,977...64,814,995
Ensembl chr11:64,780,981...64,815,455

G

protein disulfide isomerase family A, member 5

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:65,272,152...65,359,087
Ensembl chr11:65,272,155...65,359,084

G

phosphoribosyl pyrophosphate synthetase 1

ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis

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

NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187

G

rhophilin associated tail protein 1

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:66,097,854...66,127,148
Ensembl chr11:66,097,856...66,127,148

G

SEC22 homolog A, vesicle trafficking protein

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:65,402,583...65,462,329
Ensembl chr11:65,402,684...65,462,319

G

semaphorin 5B

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:65,102,532...65,225,456
Ensembl chr11:65,102,031...65,225,311

G

solute carrier family 12, member 8

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:67,116,876...67,266,548
Ensembl chr11:67,116,877...67,266,834

G

solute carrier family 15 member 2

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:64,014,182...64,043,228
Ensembl chr11:64,014,182...64,043,225

G

solute carrier family 49 member 4

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:64,995,629...65,068,929
Ensembl chr11:64,995,679...65,068,926

G

sorting nexin 4

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:67,460,872...67,518,143
Ensembl chr11:67,460,870...67,518,174

G

uridine monophosphate synthetase

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903

G

WD repeat domain 5B

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:64,710,945...64,712,804
Ensembl chr11:64,710,355...64,712,807

G

zinc finger protein 148

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia

NCBI chr11:67,276,455...67,385,803
Ensembl chr11:67,281,707...67,385,772

familial hypocalciuric hypercalcemia 1

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

OMIM
ClinVar
MouseDO
CTD
RGD

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

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

NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811

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

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

OMIM
CTD
ClinVar

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

NCBI chr 7:8,163,520...8,177,863
Ensembl chr 7:8,162,750...8,179,812

familial hypocalciuric hypercalcemia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adaptor related protein complex 2 subunit sigma 1

ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 1:77,417,496...77,428,903
Ensembl chr 1:77,417,477...77,428,905

Familial Hypophosphatemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 23

RGD

NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821

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 chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264

G

phosphate regulating endopeptidase X-linked

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

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

NCBI chr X:37,607,553...37,856,183
Ensembl chr X:37,610,760...37,854,469

G

phytanoyl-CoA 2-hydroxylase

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

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

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

G

serine protease 1

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

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

NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792

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

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 chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

susceptibility

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

PMID:8960499 PMID:9536098 PMID:9662402 PMID:10453738 PMID:10480624 More...

NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715

G

ectonucleotide pyrophosphatase/phosphodiesterase 3

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

NCBI chr 1:20,563,700...20,635,044
Ensembl chr 1:20,563,697...20,635,041

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 chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464

GRACILE syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

ClinVar Annotator: match by term: GRACILE syndrome
OMIM:603358
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

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

NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938

Greenberg dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lamin B receptor

ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia
DNA:mutations:cds:multiple (human)

OMIM
ClinVar
RGD

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

NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017

Heme Oxygenase 1 Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heme oxygenase 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HMOX1-related condition | ClinVar Annotator: match by term: Heme oxygenase 1 deficiency

CTD
OMIM
ClinVar

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

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

hemochromatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldo-keto reductase family 1, member D1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372

G

aminolevulinate dehydratase

treatment

RGD

NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474

G

5'-aminolevulinate synthase 2

severity

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

RGD

NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519

G

beta-2 microglobulin

OMIM:231100

NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766

G

bone morphogenetic protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397

G

bone morphogenetic protein 6

CTD Direct Evidence: marker/mechanism

PMID:19252486 PMID:19252488

NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365

G

ceruloplasmin

CTD Direct Evidence: marker/mechanism

NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075

G

hepcidin antimicrobial peptide

juvenile hereditary hemochromatosis, HFE2B, OMIM:602390
ClinVar Annotator: match by term: Hemochromatosis, juvenile, digenic | ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

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

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

G

homeostatic iron regulator

ClinVar Annotator: match by term: HFE INTRONIC POLYMORPHISM | ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis
DNA:missense mutation: :p.C282Y (rs1800562) (human)
CTD Direct Evidence: marker/mechanism
associated with Immunologic Deficiency Syndromes;DNA:missense mutation: :p.C282Y (human)
DNA:missense mutation:cds:p.S65C (human)

ClinVar
CTD
RGD

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

RGD:7207252, RGD:14746965, RGD:10755540, RGD:8694411, RGD:8694372

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

G

hemojuvelin BMP co-receptor

juvenile hemochromatosis, type 2A, OMIM:602390
CTD Direct Evidence: marker/mechanism

CTD
RGD

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

NCBI chr 2:184,065,944...184,069,851
Ensembl chr 2:184,065,970...184,069,850

G

heme oxygenase 1

OMIM:231100

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

G

haptoglobin

CTD Direct Evidence: marker/mechanism

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

G

solute carrier family 11 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145

G

solute carrier family 40 member 1

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

PMID:16457665 PMID:21411349 PMID:25741868

NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481

G

transferrin receptor 2

hemochromatosis, type 3, HFE3, OMIM:604250
ClinVar Annotator: match by term: Hereditary hemochromatosis
ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

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

NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591

G

tumor necrosis factor

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

CTD
RGD

PMID:16793930 PMID:11389006 PMID:16793930

RGD:12904656, RGD:12904050

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

hemochromatosis type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 2

NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397

G

hepcidin antimicrobial peptide

ClinVar Annotator: match by term: Hemochromatosis type 1

PMID:12915468 PMID:19214511 PMID:28492532

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

G

homeostatic iron regulator

OMIM:235200
ClinVar Annotator: match by term: Hemochromatosis type 1

MouseDO
ClinVar
OMIM

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

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

G

hemojuvelin BMP co-receptor

ClinVar Annotator: match by term: Hemochromatosis type 1

PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 PMID:15138164 More...

NCBI chr 2:184,065,944...184,069,851
Ensembl chr 2:184,065,970...184,069,850

G

solute carrier family 40 member 1

ClinVar Annotator: match by term: Hemochromatosis type 1

NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481

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 chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591

hemochromatosis type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hepcidin antimicrobial peptide

ClinVar Annotator: match by term: Juvenile hemochromatosis

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

G

homeostatic iron regulator

ClinVar Annotator: match by term: Juvenile hemochromatosis

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

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

G

hemojuvelin BMP co-receptor

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

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

NCBI chr 2:184,065,944...184,069,851
Ensembl chr 2:184,065,970...184,069,850

hemochromatosis type 2A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat domain 34A

ClinVar Annotator: match by term: Hemochromatosis type 2A

NCBI chr 2:184,129,830...184,135,075
Ensembl chr 2:184,129,238...184,135,116

G

hepcidin antimicrobial peptide

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

PMID:12915468 PMID:19214511 PMID:28492532

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

G

hemojuvelin BMP co-receptor

ClinVar Annotator: match by term: HJV-related condition | ClinVar Annotator: match by term: Hemochromatosis type 2A
OMIM:602390

OMIM
ClinVar
MouseDO

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

NCBI chr 2:184,065,944...184,069,851
Ensembl chr 2:184,065,970...184,069,850

G

RNA polymerase III subunit GL

ClinVar Annotator: match by term: Hemochromatosis type 2A

NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:184,112,510...184,129,114

G

thioredoxin interacting protein

ClinVar Annotator: match by term: Hemochromatosis type 2A

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

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
OMIM:613313
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

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

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

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 due to defect in transferrin receptor 2 | ClinVar Annotator: match by term: Hemochromatosis type 3 | ClinVar Annotator: match by term: Hereditary hemochromatosis type 3
OMIM:604250
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:Ala679Gly (rat)

OMIM
ClinVar
MouseDO
CTD
RGD

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

NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591

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
OMIM:606069
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

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

NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481

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 chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063

G

ferritin heavy chain 1

ClinVar Annotator: match by term: Hemochromatosis type 5

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

NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424

G

transferrin receptor 2

ClinVar Annotator: match by term: Hereditary hemochromatosis type 5

NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591

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

PMID:21109224 PMID:23255084 PMID:25741868 PMID:25741869 PMID:28492532 More...

NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355

hemosiderosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ceruloplasmin

susceptibility

DNA:splice-site mutation

PMID:7539672 PMID:7539672

RGD:1599626, RGD:1599626

NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075

hereditary arterial and articular multiple calcification syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

5' nucleotidase, ecto

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ARTERIAL CALCIFICATION DUE TO DEFICIENCY OF CD73 | ClinVar Annotator: match by term: Calcification of joints and arteries | ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome

OMIM
CTD
ClinVar

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

NCBI chr 8:89,271,046...89,314,918
Ensembl chr 8:89,270,696...89,314,881

G

TNF receptor superfamily member 11B

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

RGD

NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538

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)

RGD

NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530

G

solute carrier family 34 member 1

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

PMID:19570882 PMID:16358215

RGD:7242924, RGD:7242925

NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852

G

solute carrier family 34 member 3

ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970

hypercalcemia

term browser