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RGD DISEASE ONTOLOGY - ANNOTATIONS

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
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Accession:DOID:0050032 term browser 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:
aceruloplasminemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGTR1 angiotensin II receptor type 1 IAGP ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008 		JBrowse link
G ANKUB1 ankyrin repeat and ubiquitin domain containing 1 IAGP ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 3:149,761,100...149,792,554
Ensembl chr 3:149,761,100...149,968,385 		JBrowse link
G COMMD2 COMM domain containing 2 IAGP ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 3:149,738,472...149,752,489
Ensembl chr 3:149,738,472...149,752,495 		JBrowse link
G CP ceruloplasmin IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar Annotator: match by term: CP-related condition | ClinVar Annotator: match by term: Deficiency of ferroxidase
OMIM:604290
ClinVar Annotator: match by term: Hypoceruloplasminemia
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:2016084 PMID:3574673 PMID:5675426 PMID:5912351 PMID:7539672 More... NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829 		JBrowse link
G CPA3 carboxypeptidase A3 IAGP ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 3:148,865,296...148,897,203
Ensembl chr 3:148,865,296...148,897,203 		JBrowse link
G CPB1 carboxypeptidase B1 IAGP ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 3:148,827,811...148,860,187
Ensembl chr 3:148,791,102...148,860,187 		JBrowse link
G GYG1 glycogenin 1 IAGP ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775 		JBrowse link
G HLTF helicase like transcription factor IAGP ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 3:149,030,063...149,086,533
Ensembl chr 3:149,030,127...149,086,554 		JBrowse link
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 IAGP ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:12351628 PMID:16629161 PMID:18414213 PMID:19095659 PMID:24033266 More... NCBI chr 3:149,129,638...149,173,732
Ensembl chr 3:149,129,638...149,173,732 		JBrowse link
G RNF13 ring finger protein 13 IAGP ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 3:149,812,688...149,962,139
Ensembl chr 3:149,812,770...149,962,139 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20655381 NCBI chr 2:189,560,590...189,580,786
Ensembl chr 2:189,560,590...189,583,758 		JBrowse link
G TM4SF1 transmembrane 4 L six family member 1 IAGP ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 3:149,369,022...149,377,649
Ensembl chr 3:149,369,022...149,377,692 		JBrowse link
G TM4SF18 transmembrane 4 L six family member 18 IAGP ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 3:149,318,498...149,333,636
Ensembl chr 3:149,318,498...149,334,414 		JBrowse link
G TM4SF4 transmembrane 4 L six family member 4 IAGP ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 3:149,474,697...149,503,394
Ensembl chr 3:149,474,697...149,503,394 		JBrowse link
G WWTR1 WW domain containing transcription regulator 1 IAGP ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 3:149,517,235...149,724,788
Ensembl chr 3:149,517,235...149,736,714 		JBrowse link
Aicardi-Goutieres syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP
ISS
EXP		 DNA:mutations:exons:
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:9889202 PMID:19060901 PMID:20301648 PMID:23001123 PMID:24033266 More... RGD:11069491 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME		 ClinVar PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr 3:48,446,779...48,467,645
Ensembl chr 3:48,446,710...48,467,645 		JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME		 ClinVar PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome		 CTD
ClinVar		 PMID:24686847 PMID:25741868 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G KAT5 lysine acetyltransferase 5 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604 		JBrowse link
G LOC117038795 CRISPRi-FlowFISH-validated PRDX2 regulatory element 4 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:17846997 PMID:21454563 PMID:23592335 PMID:25604658 PMID:25741868 More... NCBI chr19:12,805,831...12,806,863 JBrowse link
G LOC130009809 ATAC-STARR-seq lymphoblastoid silent region 5361 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar NCBI chr13:50,909,606...50,910,035 JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 More... NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome		 CTD
ClinVar		 PMID:16199547 PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 More... NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2B-AS1 RNASEH2B antisense RNA 1 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar NCBI chr13:50,882,378...50,910,712
Ensembl chr13:50,862,172...50,910,789 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 More... NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome		 CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G TLDC2 TBC/LysM-associated domain containing 2 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr20:36,876,121...36,894,235
Ensembl chr20:36,876,121...36,894,235 		JBrowse link
G TREX1 three prime repair exonuclease 1 EXP
IAGP
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS 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 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G USP18 ubiquitin specific peptidase 18 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr22:18,150,170...18,177,397
Ensembl chr22:18,149,843...18,177,397 		JBrowse link
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMIGO3 adhesion molecule with Ig like domain 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,716,829...49,719,684
Ensembl chr 3:49,716,829...49,719,684 		JBrowse link
G AMT aminomethyltransferase IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,416,778...49,422,473
Ensembl chr 3:49,416,778...49,422,685 		JBrowse link
G APEH acylaminoacyl-peptide hydrolase IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,673,117...49,683,971
Ensembl chr 3:49,674,014...49,683,971 		JBrowse link
G ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,918,842...48,986,382
Ensembl chr 3:48,918,821...48,986,382 		JBrowse link
G ARIH2OS ARIH2 opposite strand lncRNA IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,917,788...48,919,385
Ensembl chr 3:48,917,765...48,918,829 		JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant		 ClinVar PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chr 3:48,446,779...48,467,645
Ensembl chr 3:48,446,710...48,467,645 		JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant		 ClinVar PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645 		JBrowse link
G BSN bassoon presynaptic cytomatrix protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,554,477...49,673,130
Ensembl chr 3:49,554,477...49,671,549 		JBrowse link
G C3orf62 chromosome 3 open reading frame 62 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,268,596...49,277,232
Ensembl chr 3:49,268,596...49,277,232 		JBrowse link
G CAMKV CaM kinase like vesicle associated IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,857,989...49,869,906
Ensembl chr 3:49,857,988...49,869,935 		JBrowse link
G CCDC71 coiled-coil domain containing 71 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,162,535...49,166,331
Ensembl chr 3:49,162,535...49,166,331 		JBrowse link
G CDHR4 cadherin related family member 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,790,732...49,802,914
Ensembl chr 3:49,790,732...49,799,873 		JBrowse link
G CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,636,463...48,662,886
Ensembl chr 3:48,636,463...48,662,886 		JBrowse link
G CIMIP7 ciliary microtubule inner protein 7 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,177,634...49,191,858
Ensembl chr 3:49,177,634...49,191,858 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329 		JBrowse link
G DAG1 dystroglycan 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G DALRD3 DALR anticodon binding domain containing 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,015,488...49,021,505
Ensembl chr 3:49,015,488...49,022,293 		JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:18223550 PMID:25741868 PMID:25917813 PMID:28492532 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G GNAI2 G protein subunit alpha i2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,227,068...50,263,358
Ensembl chr 3:50,226,292...50,259,362 		JBrowse link
G GNAT1 G protein subunit alpha transducin 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,191,610...50,197,696
Ensembl chr 3:50,191,610...50,197,696 		JBrowse link
G GPX1 glutathione peroxidase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605 		JBrowse link
G HYAL1 hyaluronidase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381 		JBrowse link
G HYAL3 hyaluronidase 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,292,832...50,299,405
Ensembl chr 3:50,292,831...50,299,405 		JBrowse link
G IFRD2 interferon related developmental regulator 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,287,732...50,292,429
Ensembl chr 3:50,287,732...50,292,918 		JBrowse link
G IHO1 interactor of HORMAD1 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,191,309...49,258,106
Ensembl chr 3:49,198,428...49,258,106 		JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,024,325...49,029,398
Ensembl chr 3:49,024,325...49,029,447 		JBrowse link
G INKA1 inka box actin regulator 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,803,261...49,805,030
Ensembl chr 3:49,803,261...49,805,030 		JBrowse link
G IP6K1 inositol hexakisphosphate kinase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,724,294...49,786,542
Ensembl chr 3:49,724,294...49,786,542 		JBrowse link
G IP6K2 inositol hexakisphosphate kinase 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,688,003...48,717,221
Ensembl chr 3:48,688,003...48,740,353 		JBrowse link
G KLHDC8B kelch domain containing 8B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,171,598...49,176,486
Ensembl chr 3:49,171,598...49,176,486 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LSMEM2 leucine rich single-pass membrane protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,277,907...50,288,114
Ensembl chr 3:50,279,087...50,288,114 		JBrowse link
G MIR191 microRNA 191 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,020,618...49,020,709
Ensembl chr 3:49,020,618...49,020,709 		JBrowse link
G MON1A MON1 homolog A, secretory trafficking associated IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,908,873...49,929,811
Ensembl chr 3:49,907,160...49,930,173 		JBrowse link
G MST1 macrophage stimulating 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501 		JBrowse link
G MST1R macrophage stimulating 1 receptor IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,887,002...49,903,873
Ensembl chr 3:49,886,902...49,903,873 		JBrowse link
G NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,296,402...50,299,405
Ensembl chr 3:50,296,402...50,299,416 		JBrowse link
G NCKIPSD NCK interacting protein with SH3 domain IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,673,844...48,685,915
Ensembl chr 3:48,673,844...48,686,364 		JBrowse link
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,020,452...49,023,495
Ensembl chr 3:49,020,459...49,023,495 		JBrowse link
G NICN1 nicolin 1, tubulin polyglutamylase complex subunit IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,422,333...49,429,324
Ensembl chr 3:49,422,333...49,429,326 		JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,989,908...49,007,153
Ensembl chr 3:48,989,889...49,007,153 		JBrowse link
G PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,517,684...48,563,136
Ensembl chr 3:48,517,684...48,562,015 		JBrowse link
G PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,744,591...48,847,874
Ensembl chr 3:48,744,597...48,847,874 		JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,095,932...49,104,757
Ensembl chr 3:49,095,932...49,105,130 		JBrowse link
G QRICH1 glutamine rich 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,029,707...49,094,373
Ensembl chr 3:49,029,707...49,094,363 		JBrowse link
G RBM5 RNA binding motif protein 5 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,088,919...50,119,021
Ensembl chr 3:50,088,919...50,119,021 		JBrowse link
G RBM6 RNA binding motif protein 6 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,940,150...50,077,249
Ensembl chr 3:49,940,007...50,100,045 		JBrowse link
G RHOA ras homolog family member A IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:25741868 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNF123 ring finger protein 123 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,689,557...49,721,529
Ensembl chr 3:49,689,538...49,721,529 		JBrowse link
G SEMA3B semaphorin 3B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,267,652...50,277,546
Ensembl chr 3:50,267,558...50,277,546 		JBrowse link
G SEMA3F semaphorin 3F IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,155,058...50,189,075
Ensembl chr 3:50,155,045...50,189,075 		JBrowse link
G SEMA3F-AS1 SEMA3F antisense RNA 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,116,022...50,156,085
Ensembl chr 3:50,116,022...50,156,085 		JBrowse link
G SHISA5 shisa family member 5 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,467,876...48,504,810
Ensembl chr 3:48,467,798...48,504,826 		JBrowse link
G SLC25A20 solute carrier family 25 member 20 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,856,926...48,898,882
Ensembl chr 3:48,856,926...48,898,904 		JBrowse link
G SLC26A6 solute carrier family 26 member 6 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,625,723...48,635,461
Ensembl chr 3:48,625,723...48,635,493 		JBrowse link
G SLC38A3 solute carrier family 38 member 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,205,271...50,221,486
Ensembl chr 3:50,205,246...50,221,486 		JBrowse link
G TCTA T cell leukemia translocation altered IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,412,423...49,416,476
Ensembl chr 3:49,412,212...49,416,476 		JBrowse link
G TMEM89 transmembrane protein 89 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,620,759...48,621,769
Ensembl chr 3:48,620,759...48,621,769 		JBrowse link
G TRAIP TRAF interacting protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,601...49,856,574 		JBrowse link
G TREX1 three prime repair exonuclease 1 susceptibility IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant		 ClinVar
OMIM		 PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G UBA7 ubiquitin like modifier activating enzyme 7 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,805,209...49,813,953
Ensembl chr 3:49,805,209...49,813,953 		JBrowse link
G UCN2 urocortin 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,561,718...48,563,781
Ensembl chr 3:48,561,718...48,563,781 		JBrowse link
G UQCRC1 ubiquinol-cytochrome c reductase core protein 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,599,002...48,609,646
Ensembl chr 3:48,599,002...48,610,976 		JBrowse link
G USP19 ubiquitin specific peptidase 19 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,108,050...49,120,823
Ensembl chr 3:49,108,046...49,120,938 		JBrowse link
G USP4 ubiquitin specific peptidase 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,277,144...49,340,053
Ensembl chr 3:49,277,144...49,340,712 		JBrowse link
G WDR6 WD repeat domain 6 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,007,391...49,015,951
Ensembl chr 3:49,007,062...49,015,953 		JBrowse link
Aicardi-Goutieres Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130009809 ATAC-STARR-seq lymphoblastoid silent region 5361 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 ClinVar PMID:25741868 NCBI chr13:50,909,606...50,910,035 JBrowse link
G LOC130009810 ATAC-STARR-seq lymphoblastoid silent region 5362 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition		 ClinVar PMID:9536098 PMID:17576681 PMID:17846997 PMID:25741868 PMID:28492532 NCBI chr13:50,910,046...50,910,285 JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP ClinVar Annotator: match by term: RNASEH2B-related condition
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition		 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2B-AS1 RNASEH2B antisense RNA 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition		 ClinVar PMID:9536098 PMID:17576681 PMID:17846997 PMID:25741868 PMID:28492532 NCBI chr13:50,882,378...50,910,712
Ensembl chr13:50,862,172...50,910,789 		JBrowse link
Aicardi-Goutieres Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN3 actinin alpha 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,546,395...66,563,334
Ensembl chr11:66,546,395...66,563,334 		JBrowse link
G ACY3 aminoacylase 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,642,555...67,650,730
Ensembl chr11:67,642,555...67,650,730 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G ALDH3B1 aldehyde dehydrogenase 3 family member B1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,008,547...68,029,276
Ensembl chr11:68,008,578...68,029,282 		JBrowse link
G ALDH3B2 aldehyde dehydrogenase 3 family member B2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,662,155...67,681,252
Ensembl chr11:67,662,155...67,681,224 		JBrowse link
G ANKRD13D ankyrin repeat domain 13D IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,289,303...67,302,484
Ensembl chr11:67,289,300...67,302,485 		JBrowse link
G ANO1 anoctamin 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,965,997...70,189,530
Ensembl chr11:69,985,907...70,189,530 		JBrowse link
G AP5B1 adaptor related protein complex 5 subunit beta 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,773,898...65,780,976
Ensembl chr11:65,773,898...65,780,976 		JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629 		JBrowse link
G BANF1 barrier to autointegration nuclear assembly factor 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,002,079...66,004,149
Ensembl chr11:66,002,228...66,004,149 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613 		JBrowse link
G BRMS1 BRMS1 transcriptional repressor and anoikis regulator IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,337,339...66,345,104
Ensembl chr11:66,337,333...66,345,125 		JBrowse link
G C11orf24 chromosome 11 open reading frame 24 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,261,338...68,271,973
Ensembl chr11:68,261,338...68,272,001 		JBrowse link
G C11orf68 chromosome 11 open reading frame 68 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,916,810...65,919,062
Ensembl chr11:65,916,810...65,919,062 		JBrowse link
G C11orf86 chromosome 11 open reading frame 86 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,975,304...66,977,009
Ensembl chr11:66,975,277...66,977,009 		JBrowse link
G CABP2 calcium binding protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,518,912...67,523,446
Ensembl chr11:67,518,912...67,524,517 		JBrowse link
G CABP4 calcium binding protein 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,452,403...67,461,752
Ensembl chr11:67,452,406...67,461,752 		JBrowse link
G CAPN1 calpain 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,181,373...65,212,006
Ensembl chr11:65,180,566...65,212,006 		JBrowse link
G CARNS1 carnosine synthase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,415,678...67,425,604
Ensembl chr11:67,414,968...67,425,607 		JBrowse link
G CATSPER1 cation channel sperm associated 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,016,752...66,026,479
Ensembl chr11:66,016,752...66,026,479 		JBrowse link
G CCDC85B coiled-coil domain containing 85B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,890,673...65,891,635
Ensembl chr11:65,890,673...65,891,635 		JBrowse link
G CCDC87 coiled-coil domain containing 87 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,590,176...66,593,063
Ensembl chr11:66,590,176...66,593,063 		JBrowse link
G CCND1 cyclin D1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G CCS copper chaperone for superoxide dismutase IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,593,185...66,606,019
Ensembl chr11:66,593,153...66,606,019 		JBrowse link
G CD248 CD248 molecule IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,314,494...66,317,044
Ensembl chr11:66,314,494...66,317,044 		JBrowse link
G CDC42EP2 CDC42 effector protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,314,866...65,322,417
Ensembl chr11:65,314,866...65,322,417 		JBrowse link
G CDK2AP2 cyclin dependent kinase 2 associated protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,506,497...67,508,162
Ensembl chr11:67,506,497...67,508,649 		JBrowse link
G CFL1 cofilin 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,854,673...65,858,180
Ensembl chr11:65,823,022...65,862,026 		JBrowse link
G CHKA choline kinase alpha IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,052,859...68,121,388
Ensembl chr11:68,052,859...68,121,444 		JBrowse link
G CLCF1 cardiotrophin like cytokine factor 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,364,168...67,374,177
Ensembl chr11:67,364,168...67,374,177 		JBrowse link
G CNIH2 cornichon family AMPA receptor auxiliary protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,278,175...66,284,206
Ensembl chr11:66,278,175...66,285,301 		JBrowse link
G CORO1B coronin 1B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,435,510...67,443,809
Ensembl chr11:67,435,510...67,443,821 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,754,620...68,844,277
Ensembl chr11:68,754,620...68,844,410 		JBrowse link
G CST6 cystatin E/M IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,012,008...66,013,505
Ensembl chr11:66,012,008...66,013,505 		JBrowse link
G CTSF cathepsin F IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,563,464...66,568,606
Ensembl chr11:66,563,464...66,568,879 		JBrowse link
G CTSW cathepsin W IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,879,837...65,883,741
Ensembl chr11:65,879,809...65,883,741 		JBrowse link
G DPF2 double PHD fingers 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262 		JBrowse link
G DPP3 dipeptidyl peptidase 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,480,434...66,509,657
Ensembl chr11:66,480,013...66,509,657 		JBrowse link
G DRAP1 DR1 associated protein 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,919,426...65,921,563
Ensembl chr11:65,919,274...65,921,563 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592 		JBrowse link
G EHBP1L1 EH domain binding protein 1 like 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,576,053...65,592,650
Ensembl chr11:65,576,046...65,592,650 		JBrowse link
G EIF1AD eukaryotic translation initiation factor 1A domain containing IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,996,545...66,002,157
Ensembl chr11:65,996,545...66,002,176 		JBrowse link
G FADD Fas associated via death domain IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:70,203,296...70,207,390
Ensembl chr11:70,203,296...70,207,390 		JBrowse link
G FAM89B family with sequence similarity 89 member B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,572,538...65,574,190
Ensembl chr11:65,572,349...65,574,198 		JBrowse link
G FGF19 fibroblast growth factor 19 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,698,238...69,704,022
Ensembl chr11:69,698,238...69,704,022 		JBrowse link
G FGF3 fibroblast growth factor 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416 		JBrowse link
G FGF4 fibroblast growth factor 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,771,022...69,775,341
Ensembl chr11:69,771,022...69,775,341 		JBrowse link
G FIBP FGF1 intracellular binding protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531 		JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,892,049...65,900,545
Ensembl chr11:65,892,049...65,900,573 		JBrowse link
G FRMD8 FERM domain containing 8 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,368,026...65,413,525
Ensembl chr11:65,386,621...65,413,525 		JBrowse link
G GAL galanin and GMAP prepropeptide IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,684,544...68,691,175
Ensembl chr11:68,683,779...68,691,175 		JBrowse link
G GAL3ST3 galactose-3-O-sulfotransferase 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,040,765...66,049,161
Ensembl chr11:66,040,765...66,049,161 		JBrowse link
G GPR152 G protein-coupled receptor 152 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,451,301...67,452,729
Ensembl chr11:67,451,301...67,452,729 		JBrowse link
G GRK2 G protein-coupled receptor kinase 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656 		JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,903,891...68,940,601
Ensembl chr11:68,903,863...68,940,602 		JBrowse link
G KAT5 lysine acetyltransferase 5 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:25741868 PMID:28492532 PMID:28600438 NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604 		JBrowse link
G KCNK7 potassium two pore domain channel subfamily K member 7 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,592,836...65,595,800
Ensembl chr11:65,592,836...65,595,996 		JBrowse link
G KDM2A lysine demethylase 2A IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,119,263...67,258,082
Ensembl chr11:67,119,263...67,258,082 		JBrowse link
G KLC2 kinesin light chain 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,243,938...66,267,860
Ensembl chr11:66,257,294...66,267,860 		JBrowse link
G KMT5B lysine methyltransferase 5B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,154,863...68,213,648
Ensembl chr11:68,154,863...68,213,852 		JBrowse link
G LOC130006061 ATAC-STARR-seq lymphoblastoid silent region 3553 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:9536098 PMID:17576681 PMID:20131292 PMID:25741868 PMID:28492532 More... NCBI chr11:65,720,484...65,720,723 JBrowse link
G LOC130006062 ATAC-STARR-seq lymphoblastoid active region 5003 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:25741868 NCBI chr11:65,720,874...65,720,943 JBrowse link
G LRFN4 leucine rich repeat and fibronectin type III domain containing 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,857,064...66,860,475
Ensembl chr11:66,856,647...66,860,475 		JBrowse link
G LRP5 LDL receptor related protein 5 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G LTO1 LTO1 maturation factor of ABCE1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,665,563...69,675,353
Ensembl chr11:69,653,076...69,675,416 		JBrowse link
G MALAT1 metastasis associated lung adenocarcinoma transcript 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,497,738...65,506,516
Ensembl chr11:65,497,606...65,508,073 		JBrowse link
G MAP3K11 mitogen-activated protein kinase kinase kinase 11 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,597,757...65,614,221
Ensembl chr11:65,597,756...65,615,382 		JBrowse link
G MRGPRD MAS related GPR family member D IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,980,021...68,980,986
Ensembl chr11:68,980,021...68,980,986 		JBrowse link
G MRGPRF MAS related GPR family member F IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,004,398...69,013,633
Ensembl chr11:69,004,398...69,013,246 		JBrowse link
G MRPL11 mitochondrial ribosomal protein L11 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,435,075...66,438,848
Ensembl chr11:66,435,075...66,466,738 		JBrowse link
G MRPL21 mitochondrial ribosomal protein L21 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,891,278...68,903,832
Ensembl chr11:68,891,276...68,903,835 		JBrowse link
G MUS81 MUS81 structure-specific endonuclease subunit IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,859,674...65,867,653
Ensembl chr11:65,857,126...65,867,653 		JBrowse link
G MYEOV myeloma overexpressed IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,294,155...69,297,287
Ensembl chr11:69,294,151...69,341,682 		JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,030,681...68,036,644
Ensembl chr11:68,030,617...68,036,644 		JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,606,936...67,612,554
Ensembl chr11:67,605,653...67,612,554 		JBrowse link
G NDUFV1-DT NDUFV1 divergent transcript IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,602,880...67,606,706
Ensembl chr11:67,602,880...67,606,766 		JBrowse link
G NEAT1 nuclear paraspeckle assembly transcript 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,422,798...65,445,540
Ensembl chr11:65,422,278...65,445,540 		JBrowse link
G NPAS4 neuronal PAS domain protein 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,409,158...66,426,707
Ensembl chr11:66,421,035...66,426,707 		JBrowse link
G NUDT8 nudix hydrolase 8 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,627,938...67,629,937
Ensembl chr11:67,627,938...67,629,937 		JBrowse link
G OVOL1 ovo like transcriptional repressor 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,787,063...65,797,214
Ensembl chr11:65,787,063...65,797,214 		JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744 		JBrowse link
G PC pyruvate carboxylase IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,848,420...66,958,383
Ensembl chr11:66,848,417...66,958,386 		JBrowse link
G PCNX3 pecanex 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,615,776...65,637,439
Ensembl chr11:65,615,776...65,637,439 		JBrowse link
G PELI3 pellino E3 ubiquitin protein ligase family member 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,466,327...66,477,337
Ensembl chr11:66,466,327...66,477,337 		JBrowse link
G PITPNM1 phosphatidylinositol transfer protein membrane associated 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,491,768...67,506,266
Ensembl chr11:67,491,760...67,506,263 		JBrowse link
G POLA2 DNA polymerase alpha 2, accessory subunit IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,261,962...65,305,985
Ensembl chr11:65,261,913...65,305,959 		JBrowse link
G POLD4 DNA polymerase delta 4, accessory subunit IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,350,765...67,353,596
Ensembl chr11:67,350,772...67,356,972 		JBrowse link
G PPP1CA protein phosphatase 1 catalytic subunit alpha IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,398,183...67,401,858
Ensembl chr11:67,398,181...67,421,183 		JBrowse link
G PPP6R3 protein phosphatase 6 regulatory subunit 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,460,752...68,615,334
Ensembl chr11:68,460,731...68,615,334 		JBrowse link
G PTPRCAP protein tyrosine phosphatase receptor type C associated protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,435,510...67,437,682
Ensembl chr11:67,435,510...67,437,682 		JBrowse link
G RAB1B RAB1B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,268,639...66,277,492
Ensembl chr11:66,268,590...66,277,492 		JBrowse link
G RAD9A RAD9 checkpoint clamp component A IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,391,986...67,398,412
Ensembl chr11:67,317,871...67,398,410 		JBrowse link
G RBM14 RNA binding motif protein 14 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,616,630...66,629,934
Ensembl chr11:66,616,626...66,629,934 		JBrowse link
G RBM14-RBM4 RBM14-RBM4 readthrough IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,616,630...66,646,468
Ensembl chr11:66,616,626...66,646,469 		JBrowse link
G RBM4 RNA binding motif protein 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,638,703...66,668,380
Ensembl chr11:66,638,667...66,668,374 		JBrowse link
G RBM4B RNA binding motif protein 4B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,664,998...66,677,887
Ensembl chr11:66,664,998...66,677,887 		JBrowse link
G RCE1 Ras converting CAAX endopeptidase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,843,441...66,846,552
Ensembl chr11:66,842,835...66,846,552 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090 		JBrowse link
G RHOD ras homolog family member D IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,056,847...67,072,017
Ensembl chr11:67,056,847...67,072,017 		JBrowse link
G RIN1 Ras and Rab interactor 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,330,241...66,336,774
Ensembl chr11:66,330,241...66,336,840 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP
EXP		 ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G RPS6KB2 ribosomal protein S6 kinase B2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,428,494...67,435,401
Ensembl chr11:67,428,460...67,435,401 		JBrowse link
G SART1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,961,734...65,980,137
Ensembl chr11:65,961,728...65,980,137 		JBrowse link
G SCYL1 SCY1 like pseudokinase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,525,083...65,538,704
Ensembl chr11:65,525,077...65,538,704 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308 		JBrowse link
G SIPA1 signal-induced proliferation-associated 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,638,101...65,650,912
Ensembl chr11:65,638,101...65,650,918 		JBrowse link
G SLC25A45 solute carrier family 25 member 45 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,375,192...65,383,701
Ensembl chr11:65,375,192...65,383,701 		JBrowse link
G SLC29A2 solute carrier family 29 member 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,362,521...66,372,446
Ensembl chr11:66,362,521...66,372,214 		JBrowse link
G SNX32 sorting nexin 32 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,833,963...65,853,701
Ensembl chr11:65,833,834...65,856,896 		JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,682,497...66,744,682
Ensembl chr11:66,682,496...66,744,670 		JBrowse link
G SSH3 slingshot protein phosphatase 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,303,530...67,312,592
Ensembl chr11:67,303,478...67,312,607 		JBrowse link
G SYT12 synaptotagmin 12 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,006,771...67,050,863
Ensembl chr11:67,006,778...67,050,863 		JBrowse link
G TBC1D10C TBC1 domain family member 10C IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,403,913...67,410,090
Ensembl chr11:67,403,915...67,410,089 		JBrowse link
G TBX10 T-box transcription factor 10 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,631,303...67,641,754
Ensembl chr11:67,631,303...67,639,763 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TESMIN testis expressed metallothionein like protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,704,796...68,751,520
Ensembl chr11:68,707,440...68,751,520 		JBrowse link
G TIGD3 tigger transposable element derived 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,354,751...65,357,613
Ensembl chr11:65,354,751...65,357,613 		JBrowse link
G TMEM134 transmembrane protein 134 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,461,710...67,469,251
Ensembl chr11:67,461,710...67,469,272 		JBrowse link
G TMEM151A transmembrane protein 151A IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,291,894...66,296,664
Ensembl chr11:66,291,894...66,296,664 		JBrowse link
G TOP6BL TOP6B like initiator of meiotic double strand breaks IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,744,769...66,843,516
Ensembl chr11:66,744,451...66,843,516 		JBrowse link
G TPCN2 two pore segment channel 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,048,932...69,090,597
Ensembl chr11:69,048,932...69,136,316 		JBrowse link
G TSGA10IP testis specific 10 interacting protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,945,480...65,959,966
Ensembl chr11:65,945,480...65,959,966 		JBrowse link
G UNC93B1 unc-93 homolog B1, TLR signaling regulator IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,991,100...68,004,097
Ensembl chr11:67,991,100...68,004,982 		JBrowse link
G YIF1A Yip1 interacting factor homolog A, membrane trafficking protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,284,580...66,289,143
Ensembl chr11:66,284,572...66,289,184 		JBrowse link
G ZDHHC24 zinc finger DHHC-type containing 24 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,520,625...66,546,048
Ensembl chr11:66,520,637...66,546,235 		JBrowse link
G ZNRD2 zinc ribbon domain containing 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,570,477...65,571,888
Ensembl chr11:65,570,460...65,573,942 		JBrowse link
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BEST2 bestrophin 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,751,791...12,758,458
Ensembl chr19:12,751,702...12,758,458 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G CALR calreticulin IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G DAND5 DAN domain BMP antagonist family member 5 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,969,576...12,974,760
Ensembl chr19:12,965,159...12,974,760 		JBrowse link
G DHPS deoxyhypusine synthase IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,672,470...12,681,880
Ensembl chr19:12,675,717...12,681,880 		JBrowse link
G DNASE2 deoxyribonuclease 2, lysosomal IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,875,209...12,881,449
Ensembl chr19:12,875,209...12,881,595 		JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,922,479...12,933,711
Ensembl chr19:12,922,479...12,934,037 		JBrowse link
G FBXW9 F-box and WD repeat domain containing 9 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,688,916...12,696,631
Ensembl chr19:12,688,053...12,696,631 		JBrowse link
G GADD45GIP1 GADD45G interacting protein 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,953,119...12,957,223
Ensembl chr19:12,953,119...12,957,223 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126 		JBrowse link
G GET3 guided entry of tail-anchored proteins factor 3, ATPase IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,737,106...12,748,323
Ensembl chr19:12,737,139...12,748,323 		JBrowse link
G HOOK2 hook microtubule tethering protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,763,003...12,792,350
Ensembl chr19:12,763,003...12,872,740 		JBrowse link
G IER2 immediate early response 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:13,150,411...13,154,911
Ensembl chr19:13,150,411...13,156,981 		JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,791,486...12,793,315
Ensembl chr19:12,791,486...12,793,315 		JBrowse link
G KLF1 KLF transcription factor 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201 		JBrowse link
G LOC117038795 CRISPRi-FlowFISH-validated PRDX2 regulatory element 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition		 ClinVar PMID:9536098 PMID:15870678 PMID:16199547 PMID:16845400 PMID:17576681 More... NCBI chr19:12,805,831...12,806,863 JBrowse link
G LYL1 LYL1 basic helix-loop-helix family member IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:13,099,033...13,102,858
Ensembl chr19:13,099,033...13,103,161 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,643,831...12,666,742 		JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,838,515...12,874,952
Ensembl chr19:12,833,951...12,874,952 		JBrowse link
G NACC1 nucleus accumbens associated 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:13,116,852...13,141,147
Ensembl chr19:13,116,862...13,141,147 		JBrowse link
G NFIX nuclear factor I X IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G PRDX2 peroxiredoxin 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,796,823...12,801,800
Ensembl chr19:12,796,820...12,801,800 		JBrowse link
G RAD23A RAD23 homolog A, nucleotide excision repair protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,945,862...12,953,642
Ensembl chr19:12,945,855...12,953,642 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP
EXP		 ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar Annotator: match by term: RNASEH2A-related condition
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:10371528 PMID:10699052 PMID:11854167 PMID:15870678 More... NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RTBDN retbindin IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,825,482...12,835,428
Ensembl chr19:12,825,478...12,835,428 		JBrowse link
G STX10 syntaxin 10 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:13,144,058...13,150,375
Ensembl chr19:13,144,058...13,150,383 		JBrowse link
G SYCE2 synaptonemal complex central element protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,898,786...12,919,293
Ensembl chr19:12,898,786...12,919,293 		JBrowse link
G TNPO2 transportin 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,699,201...12,723,932
Ensembl chr19:12,699,201...12,724,011 		JBrowse link
G TRIR telomerase RNA component interacting RNase IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,730,640...12,734,684
Ensembl chr19:12,730,640...12,734,684 		JBrowse link
G TRMT1 tRNA methyltransferase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:13,104,907...13,116,740
Ensembl chr19:13,104,902...13,117,567 		JBrowse link
G WDR83 WD repeat domain 83 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,666,807...12,675,832
Ensembl chr19:12,666,802...12,675,832 		JBrowse link
G WDR83OS WD repeat domain 83 opposite strand IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,668,073...12,669,415
Ensembl chr19:12,668,073...12,669,415 		JBrowse link
Aicardi-Goutieres Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLCAP BLCAP apoptosis inducing factor IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:37,517,417...37,527,876
Ensembl chr20:37,492,472...37,527,931 		JBrowse link
G CTNNBL1 catenin beta like 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:37,694,030...37,872,118
Ensembl chr20:37,694,030...37,872,129 		JBrowse link
G GHRH growth hormone releasing hormone IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:37,251,086...37,261,814
Ensembl chr20:37,251,086...37,261,819 		JBrowse link
G LOC130065805 ATAC-STARR-seq lymphoblastoid silent region 12883 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:20653736 PMID:21102625 PMID:24183309 PMID:25741868 PMID:28492532 NCBI chr20:36,951,203...36,951,422 JBrowse link
G MANBAL mannosidase beta like IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:37,289,655...37,317,260
Ensembl chr20:37,289,649...37,317,260 		JBrowse link
G MROH8 maestro heat like repeat family member 8 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:37,101,167...37,179,548
Ensembl chr20:37,101,226...37,179,588 		JBrowse link
G NNAT neuronatin IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:37,521,250...37,523,690
Ensembl chr20:37,521,206...37,523,690 		JBrowse link
G RBL1 RB transcriptional corepressor like 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:36,996,349...37,095,997
Ensembl chr20:36,996,349...37,095,997 		JBrowse link
G RPN2 ribophorin II IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:37,179,330...37,241,619
Ensembl chr20:37,178,410...37,241,619 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP
EXP		 ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:37,344,699...37,406,050
Ensembl chr20:37,344,685...37,406,050 		JBrowse link
G TLDC2 TBC/LysM-associated domain containing 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:36,876,121...36,894,235
Ensembl chr20:36,876,121...36,894,235 		JBrowse link
Aicardi-Goutieres Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 ClinVar
OMIM		 PMID:9536098 PMID:9889202 PMID:15146470 PMID:15489923 PMID:15955093 More... NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G LOC126805874 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:154561176-154562375 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 ClinVar PMID:23001123 PMID:25741868 PMID:28492532 PMID:32996714 NCBI chr 1:154,588,700...154,589,899 JBrowse link
G LOC129931512 ATAC-STARR-seq lymphoblastoid silent region 1364 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 ClinVar PMID:25741868 PMID:28492532 PMID:29221912 NCBI chr 1:154,607,960...154,608,069 JBrowse link
Aicardi-Goutieres Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFIH1 interferon induced with helicase C domain 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 | ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7		 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19264985 PMID:19324880 More... NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
Aicardi-Goutieres Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LSM11 LSM11, U7 small nuclear RNA associated IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 OMIM
ClinVar		 PMID:33230297 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
Aicardi-Goutieres Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C12orf57 chromosome 12 open reading frame 57 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 ClinVar PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 NCBI chr12:6,943,433...6,946,003
Ensembl chr12:6,942,978...6,946,003 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 OMIM
ClinVar		 PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
amelogenesis imperfecta type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM20A FAM20A golgi associated secretory pathway pseudokinase IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction		 ClinVar
OMIM		 PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chr17:68,535,116...68,601,367
Ensembl chr17:68,535,113...68,601,367 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction		 ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
Aortic Calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) RGD PMID:23497312 RGD:7244260 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G AGT angiotensinogen ISO RGD PMID:23291307 RGD:8549476 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta treatment ISO associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945 NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO RGD PMID:15625282 RGD:13204716 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G GRP gastrin releasing peptide treatment ISO associated with chronic kidney disease RGD PMID:32192106 RGD:329961569 NCBI chr18:59,219,189...59,230,771
Ensembl chr18:59,220,158...59,230,774 		JBrowse link
G GSN gelsolin disease_progression IEP protein:decreased expression:blood (human) RGD PMID:26941566 RGD:329336117 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843 		JBrowse link
G SOD1 superoxide dismutase 1 ISO associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G SOD2 superoxide dismutase 2 ISO associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G VKORC1 vitamin K epoxide reductase complex subunit 1 susceptibility ISO DNA:missense mutation: :p.Y139C (416A>G) (rat) RGD PMID:19884975 RGD:2315841 NCBI chr16:31,090,854...31,094,797
Ensembl chr16:31,090,842...31,095,980 		JBrowse link
aortic valve disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL5A1 collagen type V alpha 1 chain IAGP ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:25741868 PMID:28074886 PMID:28492532 PMID:30858776 PMID:31903434 More... NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO mRNA:increased expression:aorta (rat) RGD PMID:22659116 RGD:12914785 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G GATA5 GATA binding protein 5 IAGP ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:25741868 PMID:28387797 PMID:28492532 PMID:30675029 NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995 		JBrowse link
G IL6 interleukin 6 severity IEP RGD PMID:23969418 RGD:12792206 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G LOC126860794 BRD4-independent group 4 enhancer GRCh37_chr9:139392592-139393791 IAGP ClinVar Annotator: match by term: Aortic valve disease 1
ClinVar Annotator: match by term: Aortic valve disease 1 | ClinVar Annotator: match by term: NOTCH1-related condition		 ClinVar PMID:15472075 PMID:16614245 PMID:19245433 PMID:19635999 PMID:21670202 More... NCBI chr 9:136,498,140...136,499,339 JBrowse link
G LOC130003020 ATAC-STARR-seq lymphoblastoid silent region 20528 IAGP ClinVar Annotator: match by term: NOTCH1-related condition
ClinVar Annotator: match by term: Aortic valve disease 1		 ClinVar PMID:25741868 PMID:28492532 PMID:35101336 NCBI chr 9:136,545,713...136,546,272 JBrowse link
G MIR4673 microRNA 4673 IAGP ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:136,519,568...136,519,626
Ensembl chr 9:136,519,568...136,519,626 		JBrowse link
G NOTCH1 notch receptor 1 IAGP 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... RGD:1580758 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G SMAD6 SMAD family member 6 IAGP ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:28492532 PMID:30796334 NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849 		JBrowse link
G TBX20 T-box transcription factor 20 IAGP ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:19762328 PMID:25741868 PMID:27510170 PMID:27642787 PMID:28553164 More... NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100 		JBrowse link
arterial calcification of infancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25758222 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP
ISS
EXP
ISO		 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:missense mutations, nonsense mutations, frameshift mutation:cds:multiple (human)
DNA:mutations:multiple (human)		 ClinVar
MouseDO
CTD
RGD		 PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 More... RGD:1601044, RGD:13204734, RGD:731203, RGD:6906932 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
autosomal dominant hypocalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMELX amelogenin X-linked ISO RGD PMID:15721149 RGD:1599092 NCBI chr  X:11,293,413...11,309,588
Ensembl chr  X:11,293,413...11,300,761 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO RGD PMID:2106357 RGD:6483581 NCBI chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317 		JBrowse link
G CASR calcium sensing receptor IAGP
ISO		 DNA:missense mutations:cds:multiple (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 mutation:cds:p.E128A (human)		 ClinVar
RGD		 PMID:8675635 PMID:8878438 PMID:9039332 PMID:11136551 PMID:11701698 More... RGD:7204717, RGD:7205656, RGD:7205497, RGD:1598940 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO RGD PMID:11416220 RGD:734871 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986 		JBrowse link
G PTH parathyroid hormone ISO protein:increased expression:serum (rat) RGD PMID:22581996 RGD:7242904 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		JBrowse link
autosomal dominant hypocalcemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASR calcium sensing receptor susceptibility IAGP
ISS		 ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1
ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1 | ClinVar Annotator: match by term: HYPOCALCEMIA, FAMILIAL
OMIM:601198		 ClinVar
OMIM
MouseDO		 PMID:791660 PMID:1302026 PMID:1706284 PMID:7054696 PMID:7726161 More... NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
autosomal dominant hypocalcemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNA11 G protein subunit alpha 11 IAGP
ISS		 ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 2
ClinVar Annotator: match by term: GNA11-related condition
ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 2 | ClinVar Annotator: match by term: GNA11-related condition
OMIM:615361		 ClinVar
MouseDO
OMIM		 PMID:6278146 PMID:23802516 PMID:23802536 PMID:24823460 PMID:25741868 More... NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999 		JBrowse link
Autosomal Dominant Hypocalcemia, with Bartter Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASR calcium sensing receptor IAGP
EXP		 ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 More... NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF23 fibroblast growth factor 23 IAGP
ISS
EXP		 DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human)
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT
OMIM:193100
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:526C>T,p.R176W (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More... RGD:1598933, RGD:10044239 NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets ClinVar PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 More... NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G PTCHD1-AS PTCHD1 antisense RNA (head to head) IAGP ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets ClinVar PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 More... NCBI chr  X:22,193,005...23,293,146
Ensembl chr  X:22,191,895...22,235,358 		JBrowse link
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMP1 dentin matrix acidic phosphoprotein 1 ISS
IAGP		 OMIM:241520 | OMIM:613312
ClinVar Annotator: match by term: DMP1-related condition
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive		 MouseDO
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 More... NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
basal ganglia calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYORG myogenesis regulating glycosidase ISS OMIM:114100 | OMIM:213600 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926 		JBrowse link
Calcification of Aortic Valve term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:24374105 RGD:11352276 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 ameliorates ISO RGD PMID:22699504 RGD:155641244 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 severity IEP RGD PMID:15120829 RGD:12910476 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737 		JBrowse link
G MEIS2 Meis homeobox 2 IEP mRNA,protein:decreased expression:aortic valve: RGD PMID:30594396 RGD:155598679 NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299 		JBrowse link
G NOTCH1 notch receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16025100 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells RGD PMID:25722432 PMID:25722432 RGD:13207434, RGD:13207434 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G PTH parathyroid hormone disease_progression ISO protein:increased expression:serum (rat) RGD PMID:22634235 RGD:7242900 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 IEP protein:increased expression:aortic valve (human) RGD PMID:35958694 RGD:401976381 NCBI chr20:50,510,383...50,585,241
Ensembl chr20:50,510,321...50,585,241 		JBrowse link
G SLC20A1 solute carrier family 20 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chr 2:112,645,939...112,663,825
Ensembl chr 2:112,645,939...112,663,825 		JBrowse link
G TP53 tumor protein p53 EXP
ISO		 CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
calcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHSG alpha 2-HS glycoprotein EXP CTD Direct Evidence: marker/mechanism CTD PMID:16177000 NCBI chr 3:186,613,060...186,621,318
Ensembl chr 3:186,613,060...186,621,318 		JBrowse link
G ALPL alkaline phosphatase, biomineralization associated EXP CTD Direct Evidence: marker/mechanism CTD PMID:21193197 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein IEP
EXP		 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 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317 		JBrowse link
G BMP2 bone morphogenetic protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30963258 PMID:31843813 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BMP4 bone morphogenetic protein 4 IEP protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G C6 complement C6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 5:41,142,116...41,261,469
Ensembl chr 5:41,142,116...41,261,438 		JBrowse link
G CASP3 caspase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062 		JBrowse link
G CCL15 C-C motif chemokine ligand 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr17:35,997,582...36,001,553
Ensembl chr17:35,996,440...36,001,553 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21193197 PMID:21335463 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720 		JBrowse link
G COL1A1 collagen type I alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G CTC1 CST telomere replication complex component 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22267198 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G CTNNB1 catenin beta 1 IEP protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G DMD dystrophin EXP CTD Direct Evidence: marker/mechanism CTD PMID:18340010 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G EPO erythropoietin EXP CTD Direct Evidence: marker/mechanism CTD PMID:12148126 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IEP associated with Breast Neoplasms;protein:increased expression:breast RGD PMID:18256879 RGD:2289923 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
G FCGR1A Fc gamma receptor Ia EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 1:149,782,694...149,800,609
Ensembl chr 1:149,782,671...149,791,675 		JBrowse link
G FGF23 fibroblast growth factor 23 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,846,201 		JBrowse link
G GPX1 glutathione peroxidase 1 susceptibility IAGP associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P197L (human) RGD PMID:17825092 RGD:2306608 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605 		JBrowse link
G IL18 interleukin 18 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096 		JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G ITGB1 integrin subunit beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18340010 NCBI chr10:32,900,318...32,958,230
Ensembl chr10:32,887,273...33,005,792 		JBrowse link
G ITGB2 integrin subunit beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989 		JBrowse link
G JAK2 Janus kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KL klotho EXP CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
G LCN2 lipocalin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453 		JBrowse link
G LSP1 lymphocyte specific protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr11:1,853,084...1,892,263
Ensembl chr11:1,850,904...1,892,267 		JBrowse link
G LY86 lymphocyte antigen 86 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 6:6,588,720...6,654,982
Ensembl chr 6:6,588,108...6,654,983 		JBrowse link
G MGP matrix Gla protein IDA RGD PMID:15045141 RGD:1582501 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G MMP2 matrix metallopeptidase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15545515 PMID:21193197 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP9 matrix metallopeptidase 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15545515 PMID:21193197 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G NOTCH1 notch receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22110751 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30963258 NCBI chr 3:119,782,101...119,818,487
Ensembl chr 3:119,780,484...119,818,487 		JBrowse link
G PDGFB platelet derived growth factor subunit B EXP CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: marker/mechanism CTD PMID:6143199 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316 		JBrowse link
G PYCARD PYD and CARD domain containing EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr16:31,201,486...31,202,760
Ensembl chr16:31,201,486...31,203,450 		JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926 		JBrowse link
G SLC22A6 solute carrier family 22 member 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12803500 NCBI chr11:62,976,597...62,984,967
Ensembl chr11:62,936,385...62,984,967 		JBrowse link
G SNAI2 snail family transcriptional repressor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr 8:48,917,598...48,921,429
Ensembl chr 8:48,917,598...48,921,740 		JBrowse link
G SPARC secreted protein acidic and cysteine rich IEP protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975 		JBrowse link
G SPN sialophorin EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr16:29,662,963...29,670,876
Ensembl chr16:29,662,979...29,670,876 		JBrowse link
G SPP1 secreted phosphoprotein 1 ISO
EXP
IEP		 CTD Direct Evidence: marker/mechanism
protein:increased expression:dermis:		 CTD
RGD		 PMID:21193197 PMID:21335463 PMID:18390899 PMID:18422975 RGD:6903869, RGD:9068449 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24142982 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr  X:47,582,436...47,586,789
Ensembl chr  X:47,582,408...47,586,789 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24142982 NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387 		JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:30963258 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TP53 tumor protein p53 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G XPR1 xenotropic and polytropic retrovirus receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr 1:180,632,022...180,890,279
Ensembl chr 1:180,632,022...180,890,279 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTC1 CST telomere replication complex component 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coats plus syndrome		 CTD
ClinVar		 PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G STN1 STN1 subunit of CST complex EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTC1 CST telomere replication complex component 1 IAGP ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 More... NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase IAGP ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1
ClinVar Annotator: match by term: CTC1-related condition		 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chr17:8,247,608...8,270,486
Ensembl chr17:8,247,618...8,270,491 		JBrowse link
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 STN1 subunit of CST complex IAGP ClinVar Annotator: match by term: STN1-related condition
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 | ClinVar Annotator: match by term: STN1-related condition		 OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POT1 protection of telomeres 1 IAGP ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 ClinVar
OMIM		 PMID:27013236 PMID:28492532 NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983 		JBrowse link
Cole Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP ClinVar Annotator: match by term: Cole disease
ClinVar Annotator: match by term: GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION		 ClinVar
OMIM		 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
Coronary Artery Calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHACTR1 phosphatase and actin regulator 1 IAGP 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 chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b severity IEP associated with Kidney Failure, Chronic RGD PMID:22943310 RGD:7205482 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
CREST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPC centromere protein C IDA associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chr 4:67,468,762...67,545,503
Ensembl chr 4:67,468,762...67,545,503 		JBrowse link
G FBN1 fibrillin 1 IDA RGD PMID:10395706 RGD:12910471 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
diffuse idiopathic skeletal hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC29A1 solute carrier family 29 member 1 (Augustine blood group) ISS OMIM:106400 MouseDO NCBI chr 6:44,219,615...44,234,142
Ensembl chr 6:44,219,553...44,234,142 		JBrowse link
familial hypocalciuric hypercalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY5 adenylate cyclase 5 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090 		JBrowse link
G CASR calcium sensing receptor IAGP ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar Annotator: match by term: Familial benign hypercalcemia | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis		 ClinVar PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2476381 More... NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CCDC14 coiled-coil domain containing 14 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:123,885,176...123,961,229
Ensembl chr 3:123,897,305...123,961,408 		JBrowse link
G CD86 CD86 molecule IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139 		JBrowse link
G CSTA cystatin A IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:11807402 PMID:20798521 PMID:28492532 NCBI chr 3:122,325,248...122,341,969
Ensembl chr 3:122,325,248...122,341,969 		JBrowse link
G DTX3L deltex E3 ubiquitin ligase 3L IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,564,338...122,575,203
Ensembl chr 3:122,564,338...122,575,203 		JBrowse link
G EAF2 ELL associated factor 2 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:121,835,209...121,886,526
Ensembl chr 3:121,835,183...121,886,526 		JBrowse link
G FAM162A family with sequence similarity 162 member A IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,384,182...122,412,334
Ensembl chr 3:122,384,161...122,412,334 		JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:37,422,435...37,439,494
Ensembl chr 9:37,422,666...37,436,990 		JBrowse link
G HACD2 3-hydroxyacyl-CoA dehydratase 2 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:123,491,554...123,585,053
Ensembl chr 3:123,490,820...123,585,053 		JBrowse link
G HEG1 heart development protein with EGF like domains 1 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:124,965,710...125,055,997
Ensembl chr 3:124,965,710...125,055,997 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 IAGP ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:11018746 PMID:23975452 PMID:25481104 PMID:28492532 NCBI chr  X:134,460,165...134,500,668
Ensembl chr  X:134,460,165...134,520,513 		JBrowse link
G HSPBAP1 HSPB1 associated protein 1 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,739,999...122,793,831
Ensembl chr 3:122,739,999...122,793,831 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:121,987,323...122,061,655
Ensembl chr 3:121,987,323...122,022,247 		JBrowse link
G IQCB1 IQ motif containing B1 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:121,769,761...121,835,060
Ensembl chr 3:121,769,761...121,835,079 		JBrowse link
G ITGB5 integrin subunit beta 5 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:124,761,948...124,901,418
Ensembl chr 3:124,761,948...124,901,418 		JBrowse link
G KALRN kalirin RhoGEF kinase IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:124,033,369...124,726,325
Ensembl chr 3:124,033,369...124,726,325 		JBrowse link
G KPNA1 karyopherin subunit alpha 1 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,421,902...122,514,939
Ensembl chr 3:122,421,902...122,514,945 		JBrowse link
G LOC113875008 Sharpr-MPRA regulatory region 13828 IAGP ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:129,540,092...129,540,472 JBrowse link
G MIX23 mitochondrial matrix import factor 23 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,359,591...122,383,231
Ensembl chr 3:122,359,591...122,383,231 		JBrowse link
G MUC13 mucin 13, cell surface associated IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:124,905,442...124,934,751
Ensembl chr 3:124,905,442...124,953,819 		JBrowse link
G MYLK myosin light chain kinase IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis		 ClinVar PMID:19390221 PMID:21031565 PMID:22381590 PMID:23047739 PMID:25326635 More... NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G OSBPL11 oxysterol binding protein like 11 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:125,528,858...125,595,497
Ensembl chr 3:125,528,858...125,595,497 		JBrowse link
G PARP14 poly(ADP-ribose) polymerase family member 14 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,680,839...122,730,840
Ensembl chr 3:122,680,839...122,730,840 		JBrowse link
G PARP15 poly(ADP-ribose) polymerase family member 15 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,577,650...122,639,047
Ensembl chr 3:122,577,628...122,639,047 		JBrowse link
G PARP9 poly(ADP-ribose) polymerase family member 9 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,527,924...122,564,784
Ensembl chr 3:122,527,924...122,564,577 		JBrowse link
G PDIA5 protein disulfide isomerase family A member 5 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:123,067,025...123,162,104
Ensembl chr 3:123,067,025...123,225,227 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis		 ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		JBrowse link
G ROPN1 rhophilin associated tail protein 1 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:123,969,015...123,992,124
Ensembl chr 3:123,968,521...123,992,178 		JBrowse link
G SEC22A SEC22 homolog A, vesicle trafficking protein IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:123,201,943...123,274,136
Ensembl chr 3:123,201,927...123,274,136 		JBrowse link
G SEMA5B semaphorin 5B IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,909,082...123,028,605
Ensembl chr 3:122,909,082...123,028,605 		JBrowse link
G SLC12A8 solute carrier family 12 member 8 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:125,082,644...125,212,748
Ensembl chr 3:125,082,636...125,212,864 		JBrowse link
G SLC15A2 solute carrier family 15 member 2 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:121,894,401...121,944,188
Ensembl chr 3:121,894,401...121,944,188 		JBrowse link
G SLC49A4 solute carrier family 49 member 4 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,795,069...122,881,139
Ensembl chr 3:122,795,069...122,881,139 		JBrowse link
G SNX4 sorting nexin 4 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:125,446,650...125,520,202
Ensembl chr 3:125,446,650...125,520,202 		JBrowse link
G UMPS uridine monophosphate synthetase IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:124,730,452...124,749,273
Ensembl chr 3:124,730,433...124,749,273 		JBrowse link
G WDR5B WD repeat domain 5B IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,411,846...122,416,062
Ensembl chr 3:122,411,846...122,416,062 		JBrowse link
G ZNF148 zinc finger protein 148 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:125,225,669...125,375,354
Ensembl chr 3:125,225,669...125,375,325 		JBrowse link
familial hypocalciuric hypercalcemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASR calcium sensing receptor susceptibility ISO
IAGP
ISS
EXP		 ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1
OMIM:145980
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.A213E (human)
DNA:missense mutations:cds:multiple (human)
DNA:missense mutations:cds:p.R186E, p.E298K, p.R796W (human)		 ClinVar
OMIM
MouseDO
CTD
RGD		 PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2211966 More... RGD:7205436, RGD:7205499, RGD:7205440, RGD:1600616 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
familial hypocalciuric hypercalcemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNA11 G protein subunit alpha 11 IAGP
EXP		 ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 | ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, type II
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:23802516 PMID:23802536 PMID:25741868 More... NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999 		JBrowse link
familial hypocalciuric hypercalcemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP2S1 adaptor related protein complex 2 subunit sigma 1 IAGP
EXP		 ClinVar Annotator: match by term: AP2S1-related condition | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1524075 PMID:9536098 PMID:17576681 PMID:20133464 PMID:23222959 More... NCBI chr19:46,838,167...46,850,846
Ensembl chr19:46,838,136...46,850,846 		JBrowse link
Familial Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN5 chloride voltage-gated channel 5 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G LOC130007784 ATAC-STARR-seq lymphoblastoid silent region 4404 IAGP ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar NCBI chr12:47,904,987...47,905,116 JBrowse link
G PHEX phosphate regulating endopeptidase X-linked EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets		 CTD
ClinVar		 PMID:3414685 PMID:9097956 PMID:9199930 PMID:9430241 PMID:11414762 More... NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase IAGP ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412 		JBrowse link
G PRSS1 serine protease 1 IAGP ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 7:142,749,472...142,753,072
Ensembl chr 7:142,749,468...142,753,072 		JBrowse link
G PTCHD1-AS PTCHD1 antisense RNA (head to head) IAGP ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets ClinVar PMID:9097956 PMID:9199930 PMID:11468271 PMID:12727977 PMID:18625346 More... NCBI chr  X:22,193,005...23,293,146
Ensembl chr  X:22,191,895...22,235,358 		JBrowse link
G TRB T cell receptor beta locus IAGP ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 7:142,299,011...142,813,287 JBrowse link
G VDR vitamin D receptor IAGP ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT
ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets | ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT		 ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
Generalized Arterial Calcification of Infancy, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCN2 cellular communication network factor 2 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CCN2-AS1 CCN2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:131,901,952...132,102,325
Ensembl chr 6:131,950,946...132,077,393 		JBrowse link
G CTAGE9 CTAGE family member 9 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:131,708,441...131,711,017
Ensembl chr 6:131,708,441...131,711,017 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar
OMIM		 PMID:8960499 PMID:9536098 PMID:9662402 PMID:10453738 PMID:10480624 More... NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:131,637,302...131,747,410
Ensembl chr 6:131,628,442...131,747,418 		JBrowse link
G LINC01013 long intergenic non-protein coding RNA 1013 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:132,132,572...132,169,374
Ensembl chr 6:131,901,797...132,169,995 		JBrowse link
G LOC111365199 HNF4 motif-containing MPRA enhancer 74 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:131,895,225...131,895,369 JBrowse link
G LOC123864069 Sharpr-MPRA regulatory region 1543 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:131,909,969...131,910,263 JBrowse link
G LOC123864070 Sharpr-MPRA regulatory region 2799 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:131,938,089...131,938,383 JBrowse link
G LOC126859789 BRD4-independent group 4 enhancer GRCh37_chr6:132324214-132325413 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:132,003,074...132,004,273 JBrowse link
G LOC126859790 BRD4-independent group 4 enhancer GRCh37_chr6:132453077-132454276 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:132,131,937...132,133,406 JBrowse link
G LOC129997167 ATAC-STARR-seq lymphoblastoid active region 25068 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:131,688,538...131,688,667 JBrowse link
G LOC129997168 ATAC-STARR-seq lymphoblastoid active region 25069 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:132,085,323...132,085,502 JBrowse link
G MIR548AJ1 microRNA 548aj-1 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:132,115,192...132,115,263
Ensembl chr 6:132,115,192...132,115,263 		JBrowse link
G MIR548H5 microRNA 548h-5 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:131,792,172...131,792,231
Ensembl chr 6:131,792,172...131,792,231 		JBrowse link
G OR2A4 olfactory receptor family 2 subfamily A member 4 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr 6:131,699,644...131,701,401
Ensembl chr 6:131,699,644...131,701,401 		JBrowse link
G ZNF292 zinc finger protein 292 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar PMID:25741868 NCBI chr 6:87,155,565...87,265,943
Ensembl chr 6:87,151,803...87,265,943 		JBrowse link
Generalized Arterial Calcification of Infancy, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 2 ClinVar
OMIM		 PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G LOC125146421 Sharpr-MPRA regulatory region 15590 IAGP ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 2 ClinVar PMID:10835643 PMID:12673275 PMID:15098239 PMID:24033266 PMID:24352041 More... NCBI chr16:16,150,332...16,150,626 JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone IAGP
ISS
EXP		 ClinVar Annotator: match by term: GRACILE syndrome
OMIM:603358
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443 		JBrowse link
G LOC129935609 ATAC-STARR-seq lymphoblastoid active region 17127 IAGP ClinVar Annotator: match by term: GRACILE syndrome ClinVar PMID:25741868 NCBI chr 2:218,659,677...218,659,806 JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP ClinVar Annotator: match by term: neonatal lactic acidosis ClinVar PMID:25741868 PMID:32313153 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
Greenberg dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBR lamin B receptor IAGP DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Greenberg dysplasia
ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops
ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia		 ClinVar
OMIM
RGD		 PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More... RGD:9588626 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
Heme Oxygenase 1 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMOX1 heme oxygenase 1 IAGP
EXP		 ClinVar Annotator: match by term: Heme oxygenase 1 deficiency
ClinVar Annotator: match by term: HMOX1-related condition
ClinVar Annotator: match by term: HMOX1-related condition | ClinVar Annotator: match by term: Heme oxygenase 1 deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9884342 PMID:16199547 PMID:21088618 PMID:22023467 PMID:25741868 More... NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
hemochromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1D1 aldo-keto reductase family 1 member D1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18624455 NCBI chr 7:138,076,459...138,118,305
Ensembl chr 7:138,002,324...138,118,305 		JBrowse link
G ALAD aminolevulinate dehydratase treatment ISO RGD PMID:3679087 RGD:12904688 NCBI chr 9:113,386,312...113,401,284
Ensembl chr 9:113,386,312...113,401,290 		JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 severity IAGP DNA:mutation:cds:c.15599C>T,p.520L(human) RGD PMID:16446107 RGD:11035246 NCBI chr  X:55,009,055...55,030,977
Ensembl chr  X:55,009,055...55,030,977 		JBrowse link
G B2M beta-2-microglobulin ISS OMIM:231100 MouseDO NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G BMP2 bone morphogenetic protein 2 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BMP6 bone morphogenetic protein 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19252486 PMID:19252488 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728 		JBrowse link
G CP ceruloplasmin EXP CTD Direct Evidence: marker/mechanism CTD PMID:17258727 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829 		JBrowse link
G HAMP hepcidin antimicrobial peptide IAGP
EXP		 juvenile hereditary hemochromatosis, HFE2B, OMIM:602390 DNA:point mutation:CDS:93delG or C166T
ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemochromatosis, juvenile, digenic		 ClinVar
CTD
RGD		 PMID:9536098 PMID:12915468 PMID:14630809 PMID:14670915 PMID:15024747 More... RGD:1599358 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
G HFE homeostatic iron regulator IAGP
EXP
ISO		 ClinVar Annotator: match by term: Hereditary hemochromatosis
ClinVar Annotator: match by term: HFE INTRONIC POLYMORPHISM
ClinVar Annotator: match by term: HFE POLYMORPHISM
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 chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G HFE-AS1 HFE antisense RNA 1 IAGP ClinVar Annotator: match by term: Hereditary hemochromatosis
ClinVar Annotator: match by term: HFE POLYMORPHISM		 ClinVar PMID:8696333 PMID:8896550 PMID:9106528 PMID:9162021 PMID:9356458 More... NCBI chr 6:26,086,290...26,091,034 JBrowse link
G HJV hemojuvelin BMP co-receptor IAGP
EXP		 juvenile hemochromatosis, type 2A, OMIM:602390 protein:substitution:CDS:G320V
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16868025 PMID:17255318 PMID:19252486 PMID:21411349 PMID:14647275 RGD:1599478 NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746 		JBrowse link
G HMOX1 heme oxygenase 1 ISS OMIM:231100 MouseDO NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G HP haptoglobin EXP CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055 		JBrowse link
G LOC113687175 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100224056-100224820 IAGP ClinVar Annotator: match by term: Hereditary hemochromatosis ClinVar PMID:9536098 PMID:16424658 PMID:17576681 PMID:17951290 PMID:22890139 More... NCBI chr 7:100,626,433...100,627,197 JBrowse link
G LOC129998967 ATAC-STARR-seq lymphoblastoid silent region 18453 IAGP ClinVar Annotator: match by term: Hereditary hemochromatosis ClinVar PMID:28492532 NCBI chr 7:100,633,353...100,633,412 JBrowse link
G SLC11A2 solute carrier family 11 member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11439223 NCBI chr12:50,952,263...51,028,886
Ensembl chr12:50,979,401...51,028,566 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary hemochromatosis		 CTD
ClinVar		 PMID:16457665 PMID:21411349 PMID:25741868 NCBI chr 2:189,560,590...189,580,786
Ensembl chr 2:189,560,590...189,583,758 		JBrowse link
G TFR2 transferrin receptor 2 IAGP
EXP		 hemochromatosis, type 3, HFE3, OMIM:604250
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