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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

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aceruloplasminemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr1 angiotensin II receptor type 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chrNW_004624730:25,964,848...26,006,468
Ensembl chrNW_004624730:25,964,811...26,006,463 		JBrowse link
G Ankub1 ankyrin repeat and ubiquitin domain containing 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chrNW_004624730:27,082,687...27,125,424
Ensembl chrNW_004624730:27,082,009...27,125,838 		JBrowse link
G Commd2 COMM domain containing 2 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chrNW_004624730:27,045,103...27,074,345
Ensembl chrNW_004624730:27,047,580...27,074,356 		JBrowse link
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: CP-related condition | ClinVar Annotator: match by term: Deficiency of ferroxidase | ClinVar Annotator: match by term: Hypoceruloplasminemia OMIM
ClinVar		 PMID:2016084 PMID:3574673 PMID:5675426 PMID:5912351 PMID:7539672 More... NCBI chrNW_004624730:26,458,554...26,510,796
Ensembl chrNW_004624730:26,462,550...26,511,078 		JBrowse link
G Cpa3 carboxypeptidase A3 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chrNW_004624730:26,098,309...26,124,203
Ensembl chrNW_004624730:26,098,373...26,124,104 		JBrowse link
G Cpb1 carboxypeptidase B1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chrNW_004624730:26,059,326...26,092,556
Ensembl chrNW_004624730:26,059,150...26,092,486 		JBrowse link
G Gyg1 glycogenin 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chrNW_004624730:26,218,611...26,253,085
Ensembl chrNW_004624730:26,218,154...26,253,084 		JBrowse link
G Hltf helicase like transcription factor ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chrNW_004624730:26,255,426...26,334,176
Ensembl chrNW_004624730:26,257,609...26,333,936 		JBrowse link
G Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:12351628 PMID:16629161 PMID:18414213 PMID:19095659 PMID:24033266 More... NCBI chrNW_004624730:26,426,495...26,469,744
Ensembl chrNW_004624730:26,426,578...26,469,777 		JBrowse link
G Rnf13 ring finger protein 13 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chrNW_004624730:27,156,064...27,303,802
Ensembl chrNW_004624730:27,156,076...27,303,802 		JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20655381 NCBI chrNW_004624899:685,166...701,725
Ensembl chrNW_004624899:685,097...702,440 		JBrowse link
G Tm4sf1 transmembrane 4 L six family member 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chrNW_004624730:26,643,632...26,652,858
Ensembl chrNW_004624730:26,642,794...26,652,963 		JBrowse link
G Tm4sf18 transmembrane 4 L six family member 18 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chrNW_004624730:26,559,412...26,579,022
Ensembl chrNW_004624730:26,559,358...26,579,264 		JBrowse link
G Tm4sf4 transmembrane 4 L six family member 4 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chrNW_004624730:26,767,481...26,797,136
Ensembl chrNW_004624730:26,767,387...26,798,373 		JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chrNW_004624730:26,813,716...26,967,615
Ensembl chrNW_004624730:26,813,624...26,967,691 		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 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9889202 PMID:19060901 PMID:20301648 PMID:23001123 PMID:24033266 More... NCBI chrNW_004624885:2,783,058...2,839,688
Ensembl chrNW_004624885:2,812,448...2,839,693 		JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME ClinVar PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chrNW_004624730:2,413,474...2,431,012
Ensembl chrNW_004624730:2,413,014...2,430,827 		JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chrNW_004624732:3,187,791...3,248,795
Ensembl chrNW_004624732:3,187,791...3,250,981 		JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chrNW_004624767:20,668,759...20,675,367
Ensembl chrNW_004624767:20,666,763...20,675,164 		JBrowse link
G Rnaseh2a ribonuclease H2 subunit A ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 More... NCBI chrNW_004624901:411,023...419,831
Ensembl chrNW_004624901:411,078...419,831 		JBrowse link
G Rnaseh2b ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:16199547 PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 More... NCBI chrNW_004624748:3,246,707...3,339,443 JBrowse link
G Rnaseh2c ribonuclease H2 subunit C ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 More... NCBI chrNW_004624767:20,667,401...20,668,490
Ensembl chrNW_004624767:20,667,418...20,668,490 		JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chrNW_004624842:2,591,016...2,649,746
Ensembl chrNW_004624842:2,591,148...2,647,742 		JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624842:2,649,943...2,668,957
Ensembl chrNW_004624842:2,626,897...2,668,822 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME ClinVar PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chrNW_004624730:2,431,270...2,433,010
Ensembl chrNW_004624730:2,431,999...2,432,959 		JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624735:9,158,597...9,187,503 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 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,641,716...3,644,504
Ensembl chrNW_004624730:3,642,603...3,644,135 		JBrowse link
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,366,023...3,372,266
Ensembl chrNW_004624730:3,366,023...3,371,425 		JBrowse link
G Apeh acylaminoacyl-peptide hydrolase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,601,792...3,612,048
Ensembl chrNW_004624730:3,601,714...3,612,048 		JBrowse link
G Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,953,649...3,023,716
Ensembl chrNW_004624730:2,953,669...3,023,042 		JBrowse link
G Atrip ATR interacting protein ISO 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 chrNW_004624730:2,413,474...2,431,012
Ensembl chrNW_004624730:2,413,014...2,430,827 		JBrowse link
G Bsn bassoon presynaptic cytomatrix protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,498,118...3,600,488
Ensembl chrNW_004624730:3,498,257...3,593,450 		JBrowse link
G Camkv CaM kinase like vesicle associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,775,961...3,805,137
Ensembl chrNW_004624730:3,775,969...3,788,020 		JBrowse link
G Ccdc71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,173,882...3,179,251
Ensembl chrNW_004624730:3,175,143...3,176,528 		JBrowse link
G Cdhr4 cadherin related family member 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,707,115...3,714,615
Ensembl chrNW_004624730:3,707,040...3,714,348 		JBrowse link
G Celsr3 cadherin EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,650,096...2,675,930
Ensembl chrNW_004624730:2,651,756...2,675,923 		JBrowse link
G Cimip7 ciliary microtubule inner protein 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,187,956...3,198,064
Ensembl chrNW_004624730:3,188,765...3,198,025 		JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,569,510...2,599,959 JBrowse link
G CUNH3orf62 chromosome unknown C3orf62 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,249,440...3,252,795
Ensembl chrNW_004624730:3,249,482...3,251,966 		JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,417,356...3,488,300
Ensembl chrNW_004624730:3,417,347...3,488,879 		JBrowse link
G Dalrd3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,063,241...3,066,253
Ensembl chrNW_004624730:3,063,245...3,066,453 		JBrowse link
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:18223550 PMID:25741868 PMID:25917813 PMID:28492532 NCBI chrNW_004624805:555,444...593,548
Ensembl chrNW_004624805:555,545...592,250 		JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,645,768...3,648,157
Ensembl chrNW_004624730:3,645,768...3,648,165 		JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:4,096,061...4,126,538
Ensembl chrNW_004624730:4,103,905...4,126,737 		JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:4,064,982...4,072,172
Ensembl chrNW_004624730:4,066,222...4,071,316 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,313,773...3,314,870
Ensembl chrNW_004624730:3,313,972...3,314,626 		JBrowse link
G Hyal1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:4,161,204...4,165,554
Ensembl chrNW_004624730:4,160,557...4,165,589 		JBrowse link
G Hyal3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:4,154,862...4,160,635
Ensembl chrNW_004624730:4,151,688...4,160,614 		JBrowse link
G Ifrd2 interferon related developmental regulator 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:4,148,888...4,154,698
Ensembl chrNW_004624730:4,148,888...4,154,496 		JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,208,648...3,249,281
Ensembl chrNW_004624730:3,215,447...3,239,060 		JBrowse link
G Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,071,132...3,075,870
Ensembl chrNW_004624730:3,071,141...3,075,882 		JBrowse link
G Inka1 inka box actin regulator 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,717,980...3,720,343
Ensembl chrNW_004624730:3,718,573...3,721,001 		JBrowse link
G Ip6k1 inositol hexakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,648,461...3,704,664
Ensembl chrNW_004624730:3,648,461...3,704,646 		JBrowse link
G Ip6k2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,697,098...2,734,198
Ensembl chrNW_004624730:2,697,098...2,734,636 		JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,182,881...3,187,714
Ensembl chrNW_004624730:3,182,827...3,187,714 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,145,643...3,158,781
Ensembl chrNW_004624730:3,145,643...3,159,101 		JBrowse link
G LOC101719627 cytochrome b-c1 complex subunit 1, mitochondrial ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,603,301...2,613,105
Ensembl chrNW_004624730:2,603,089...2,613,828 		JBrowse link
G Lsmem2 leucine rich single-pass membrane protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:4,144,588...4,148,953 JBrowse link
G Mon1a MON1 homolog A, secretory trafficking associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,818,653...3,833,697
Ensembl chrNW_004624730:3,821,485...3,841,452 		JBrowse link
G Mst1 macrophage stimulating 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,612,467...3,617,257
Ensembl chrNW_004624730:3,610,241...3,617,530 		JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,802,452...3,818,593
Ensembl chrNW_004624730:3,800,749...3,822,389 		JBrowse link
G Naa80 N-alpha-acetyltransferase 80, NatH catalytic subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:4,157,714...4,159,927 JBrowse link
G Nckipsd NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,685,256...2,695,387
Ensembl chrNW_004624730:2,684,762...2,695,705 		JBrowse link
G Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,069,083...3,070,675
Ensembl chrNW_004624730:3,069,115...3,070,675 		JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,372,456...3,377,308
Ensembl chrNW_004624730:3,372,676...3,377,279 		JBrowse link
G P4htm prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,042,699...3,056,632
Ensembl chrNW_004624730:3,043,222...3,056,645 		JBrowse link
G Pfkfb4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,519,661...2,566,664
Ensembl chrNW_004624730:2,519,678...2,563,059 		JBrowse link
G Prkar2a protein kinase cAMP-dependent type II regulatory subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,743,921...2,807,270 JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,123,877...3,130,787
Ensembl chrNW_004624730:3,120,958...3,130,757 		JBrowse link
G Qrich1 glutamine rich 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,076,106...3,123,002 JBrowse link
G Rbm5 RNA binding motif protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,969,445...4,000,587
Ensembl chrNW_004624730:3,969,065...4,001,335 		JBrowse link
G Rbm6 RNA binding motif protein 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,840,456...3,951,643 JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,316,122...3,361,820 JBrowse link
G Rnaseh2b ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004624748:3,246,707...3,339,443 JBrowse link
G Rnf123 ring finger protein 123 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,617,488...3,645,797
Ensembl chrNW_004624730:3,618,269...3,645,797 		JBrowse link
G Sema3b semaphorin 3B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:4,131,329...4,142,126
Ensembl chrNW_004624730:4,131,057...4,142,374 		JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:4,035,909...4,064,796
Ensembl chrNW_004624730:4,035,874...4,065,667 		JBrowse link
G Shisa5 shisa family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,416,486...2,448,836
Ensembl chrNW_004624730:2,413,014...2,449,065 		JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,833,785...2,860,711
Ensembl chrNW_004624730:2,832,233...2,860,796 		JBrowse link
G Slc26a6 solute carrier family 26 member 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,639,940...2,649,358
Ensembl chrNW_004624730:2,640,208...2,649,203 		JBrowse link
G Slc38a3 solute carrier family 38 member 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:4,078,084...4,092,330
Ensembl chrNW_004624730:4,078,014...4,096,080 		JBrowse link
G Tcta T cell leukemia translocation altered ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,362,037...3,365,621
Ensembl chrNW_004624730:3,362,039...3,364,301 		JBrowse link
G Tmem89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,634,999...2,637,832
Ensembl chrNW_004624730:2,636,577...2,637,473 		JBrowse link
G Traip TRAF interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,749,183...3,775,062
Ensembl chrNW_004624730:3,748,894...3,774,489 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant OMIM
ClinVar		 PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chrNW_004624730:2,431,270...2,433,010
Ensembl chrNW_004624730:2,431,999...2,432,959 		JBrowse link
G Uba7 ubiquitin like modifier activating enzyme 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,720,516...3,729,586
Ensembl chrNW_004624730:3,718,573...3,730,097 		JBrowse link
G Ucn2 urocortin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,567,154...2,568,387 JBrowse link
G Usp19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,134,419...3,145,512
Ensembl chrNW_004624730:3,133,595...3,146,221 		JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,252,980...3,306,439
Ensembl chrNW_004624730:3,253,407...3,306,341 		JBrowse link
G Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,058,947...3,063,709
Ensembl chrNW_004624730:3,055,610...3,063,153 		JBrowse link
Aicardi-Goutieres Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh2b ribonuclease H2 subunit B ISO 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 chrNW_004624748:3,246,707...3,339,443 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 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,844,996...19,859,274
Ensembl chrNW_004624767:19,844,884...19,858,950 		JBrowse link
G Acy3 aminoacylase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,908,849...18,914,222
Ensembl chrNW_004624767:18,909,552...18,914,076 		JBrowse link
G Aip aryl hydrocarbon receptor interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,045,559...19,051,876
Ensembl chrNW_004624767:19,045,389...19,051,747 		JBrowse link
G Aldh3b1 aldehyde dehydrogenase 3 family member B1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,827,938...18,844,347
Ensembl chrNW_004624767:18,827,168...18,843,273 		JBrowse link
G Aldh3b2 aldehyde dehydrogenase 3 family member B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,901,351...18,906,618
Ensembl chrNW_004624767:18,901,372...18,904,686 		JBrowse link
G Ankrd13d ankyrin repeat domain 13D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,195,767...19,209,535
Ensembl chrNW_004624767:19,195,828...19,209,334 		JBrowse link
G Ano1 anoctamin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,070,989...17,246,822
Ensembl chrNW_004624767:17,072,515...17,174,970 		JBrowse link
G Ap5b1 adaptor related protein complex 5 subunit beta 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,644,230...20,647,520
Ensembl chrNW_004624767:20,644,205...20,647,756 		JBrowse link
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,033,750...20,036,019
Ensembl chrNW_004624767:20,033,747...20,036,021 		JBrowse link
G Banf1 barrier to autointegration nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,435,143...20,436,830
Ensembl chrNW_004624767:20,434,955...20,436,640 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,875,597...19,893,652
Ensembl chrNW_004624767:19,875,535...19,893,694 		JBrowse link
G Brms1 BRMS1 transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,036,190...20,043,871
Ensembl chrNW_004624767:20,036,256...20,043,876 		JBrowse link
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,016,945...19,022,328
Ensembl chrNW_004624767:19,016,945...19,022,328 		JBrowse link
G Capn1 calpain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:21,146,310...21,169,593
Ensembl chrNW_004624767:21,146,999...21,169,957 		JBrowse link
G Carns1 carnosine synthase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,097,963...19,108,078
Ensembl chrNW_004624767:19,097,944...19,107,665 		JBrowse link
G Catsper1 cation channel sperm associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,410,216...20,420,303 JBrowse link
G Ccdc85b coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,525,728...20,527,337
Ensembl chrNW_004624767:20,525,942...20,526,550 		JBrowse link
G Ccdc87 coiled-coil domain containing 87 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,815,664...19,818,796
Ensembl chrNW_004624767:19,815,707...19,818,268 		JBrowse link
G Ccnd1 cyclin D1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191 		JBrowse link
G Ccs copper chaperone for superoxide dismutase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,803,945...19,815,590
Ensembl chrNW_004624767:19,803,945...19,815,964 		JBrowse link
G Cd248 CD248 molecule ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,060,917...20,063,804
Ensembl chrNW_004624767:20,060,961...20,063,594 		JBrowse link
G Cdc42ep2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:21,057,316...21,066,220
Ensembl chrNW_004624767:21,059,993...21,066,829 		JBrowse link
G Cdk2ap2 cyclin dependent kinase 2 associated protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,028,442...19,030,580
Ensembl chrNW_004624767:19,027,912...19,030,835 		JBrowse link
G Cfl1 cofilin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,574,884...20,578,413
Ensembl chrNW_004624767:20,574,966...20,579,796 		JBrowse link
G Chka choline kinase alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,744,647...18,807,352
Ensembl chrNW_004624767:18,744,547...18,807,352 		JBrowse link
G Clcf1 cardiotrophin like cytokine factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,142,927...19,152,572
Ensembl chrNW_004624767:19,142,852...19,153,155 		JBrowse link
G Cnih2 cornichon family AMPA receptor auxiliary protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,084,526...20,090,225
Ensembl chrNW_004624767:20,084,501...20,090,209 		JBrowse link
G Coro1b coronin 1B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,080,541...19,087,128
Ensembl chrNW_004624767:19,080,451...19,090,419 		JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,109,011...18,161,378
Ensembl chrNW_004624767:18,109,008...18,161,639 		JBrowse link
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,423,007...20,424,773
Ensembl chrNW_004624767:20,422,390...20,424,690 		JBrowse link
G Ctsf cathepsin F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,839,602...19,844,870
Ensembl chrNW_004624767:19,838,956...19,844,877 		JBrowse link
G Ctsw cathepsin W ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,533,448...20,537,706
Ensembl chrNW_004624767:20,533,487...20,538,436 		JBrowse link
G CUNH11orf24 chromosome unknown C11orf24 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,601,635...18,610,913
Ensembl chrNW_004624767:18,605,295...18,611,087 		JBrowse link
G CUNH11orf68 chromosome unknown C11orf68 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,501,920...20,504,158 JBrowse link
G CUNH11orf86 chromosome unknown C11orf86 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,467,734...19,481,860
Ensembl chrNW_004624767:19,468,475...19,469,512 		JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:21,031,175...21,042,574
Ensembl chrNW_004624767:21,029,515...21,049,895 		JBrowse link
G Dpp3 dipeptidyl peptidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,894,386...19,916,996
Ensembl chrNW_004624767:19,894,279...19,916,987 		JBrowse link
G Drap1 DR1 associated protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,484,318...20,501,763
Ensembl chrNW_004624767:20,496,930...20,502,511 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,559,801...20,566,326
Ensembl chrNW_004624767:20,559,795...20,566,341 		JBrowse link
G Ehbp1l1 EH domain binding protein 1 like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,800,254...20,821,165 JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,436,929...20,439,796
Ensembl chrNW_004624767:20,437,053...20,439,796 		JBrowse link
G Fadd Fas associated via death domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,050,929...17,059,648
Ensembl chrNW_004624767:17,055,509...17,059,705 		JBrowse link
G Fam89b family with sequence similarity 89 member B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,822,975...20,824,952
Ensembl chrNW_004624767:20,822,860...20,824,571 		JBrowse link
G Fgf19 fibroblast growth factor 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,434,501...17,439,351
Ensembl chrNW_004624767:17,432,358...17,438,173 		JBrowse link
G Fgf3 fibroblast growth factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,353,989...17,360,857
Ensembl chrNW_004624767:17,353,989...17,360,705 		JBrowse link
G Fgf4 fibroblast growth factor 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,381,387...17,385,698
Ensembl chrNW_004624767:17,381,791...17,383,468 		JBrowse link
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,528,750...20,533,272
Ensembl chrNW_004624767:20,528,786...20,533,266 		JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,519,054...20,525,311
Ensembl chrNW_004624767:20,519,313...20,524,554 		JBrowse link
G Frmd8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,983,658...21,003,522
Ensembl chrNW_004624767:20,983,658...21,002,673 		JBrowse link
G Gal galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,195,288...18,210,634
Ensembl chrNW_004624767:18,204,508...18,210,416 		JBrowse link
G Gal3st3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,342,925...20,350,892
Ensembl chrNW_004624767:20,342,446...20,350,842 		JBrowse link
G Gpr152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,075,387...19,080,184
Ensembl chrNW_004624767:19,076,064...19,077,419 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,212,218...19,231,218
Ensembl chrNW_004624767:19,210,965...19,231,082 		JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,038,559...18,065,745
Ensembl chrNW_004624767:18,036,650...18,065,742 		JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:25741868 PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,668,759...20,675,367
Ensembl chrNW_004624767:20,666,763...20,675,164 		JBrowse link
G Kcnk7 potassium two pore domain channel subfamily K member 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,796,733...20,799,915
Ensembl chrNW_004624767:20,796,809...20,799,915 		JBrowse link
G Kdm2a lysine demethylase 2A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,247,009...19,365,520
Ensembl chrNW_004624767:19,248,430...19,364,793 		JBrowse link
G Klc2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,099,758...20,109,539
Ensembl chrNW_004624767:20,099,647...20,109,593 		JBrowse link
G Kmt5b lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,654,682...18,716,087
Ensembl chrNW_004624767:18,655,193...18,716,252 		JBrowse link
G Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,589,631...19,593,302
Ensembl chrNW_004624767:19,589,631...19,593,705 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,438,165...18,551,362
Ensembl chrNW_004624767:18,438,274...18,551,338 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,845,949...20,861,169
Ensembl chrNW_004624767:20,845,949...20,860,673 		JBrowse link
G Lto1 LTO1 maturation factor of ABCE1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,453,894...17,460,448
Ensembl chrNW_004624767:17,454,043...17,461,430 		JBrowse link
G Map3k11 mitogen-activated protein kinase kinase kinase 11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,780,356...20,796,015
Ensembl chrNW_004624767:20,779,898...20,796,015 		JBrowse link
G Mrgprd MAS related GPR family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,999,897...18,000,932 JBrowse link
G Mrgprf MAS related GPR family member F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,971,523...17,979,956
Ensembl chrNW_004624767:17,972,076...17,980,047 		JBrowse link
G Mrpl11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,944,363...19,947,868
Ensembl chrNW_004624767:19,944,370...19,949,053 		JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,567,465...20,573,622
Ensembl chrNW_004624767:20,567,465...20,572,866 		JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,822,763...18,826,907
Ensembl chrNW_004624767:18,822,526...18,827,057 		JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,934,063...18,938,652
Ensembl chrNW_004624767:18,929,879...18,939,242 		JBrowse link
G Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,953,746...19,959,472
Ensembl chrNW_004624767:19,954,323...19,959,360 		JBrowse link
G Nudt8 nudix hydrolase 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,924,318...18,926,309 JBrowse link
G Ovol1 ovo like transcriptional repressor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,624,325...20,636,015
Ensembl chrNW_004624767:20,622,733...20,636,067 		JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,123,845...20,325,191
Ensembl chrNW_004624767:20,123,725...20,324,967 		JBrowse link
G Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,481,158...19,601,036
Ensembl chrNW_004624767:19,480,522...19,614,051 		JBrowse link
G Pcnx3 pecanex 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,758,355...20,780,166
Ensembl chrNW_004624767:20,758,355...20,779,441 		JBrowse link
G Peli3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,920,149...19,938,892
Ensembl chrNW_004624767:19,920,687...19,929,638 		JBrowse link
G Pitpnm1 phosphatidylinositol transfer protein membrane associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,031,689...19,045,062
Ensembl chrNW_004624767:19,031,625...19,045,166 		JBrowse link
G Pola2 DNA polymerase alpha 2, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:21,078,881...21,101,464
Ensembl chrNW_004624767:21,078,742...21,101,367 		JBrowse link
G Pold4 DNA polymerase delta 4, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,160,494...19,162,241
Ensembl chrNW_004624767:19,160,407...19,163,247 		JBrowse link
G Ppp1ca protein phosphatase 1 catalytic subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,120,683...19,123,935
Ensembl chrNW_004624767:19,119,883...19,123,934 		JBrowse link
G Ppp6r3 protein phosphatase 6 regulatory subunit 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,269,737...18,431,406
Ensembl chrNW_004624767:18,271,877...18,369,613 		JBrowse link
G Ptprcap protein tyrosine phosphatase receptor type C associated protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,087,197...19,089,999 JBrowse link
G Rab1b RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,091,120...20,098,855
Ensembl chrNW_004624767:20,090,441...20,098,913 		JBrowse link
G Rad9a RAD9 checkpoint clamp component A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,123,710...19,180,505
Ensembl chrNW_004624767:19,124,517...19,176,231 		JBrowse link
G Rce1 Ras converting CAAX endopeptidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,602,603...19,605,671
Ensembl chrNW_004624767:19,602,603...19,605,668 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,732,813...20,742,016
Ensembl chrNW_004624767:20,732,938...20,741,272 		JBrowse link
G Rhod ras homolog family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,397,703...19,406,809
Ensembl chrNW_004624767:19,394,141...19,406,728 		JBrowse link
G Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,044,056...20,050,868
Ensembl chrNW_004624767:20,044,820...20,051,764 		JBrowse link
G Rnaseh2c ribonuclease H2 subunit C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chrNW_004624767:20,667,401...20,668,490
Ensembl chrNW_004624767:20,667,418...20,668,490 		JBrowse link
G Rps6kb2 ribosomal protein S6 kinase B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,090,090...19,097,123
Ensembl chrNW_004624767:19,090,067...19,096,689 		JBrowse link
G Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,456,951...20,466,994
Ensembl chrNW_004624767:20,456,890...20,467,641 		JBrowse link
G Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,861,037...20,872,127
Ensembl chrNW_004624767:20,861,039...20,872,090 		JBrowse link
G Sf3b2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,326,499...20,340,204
Ensembl chrNW_004624767:20,326,499...20,340,164 		JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,745,125...20,757,243
Ensembl chrNW_004624767:20,745,168...20,757,219 		JBrowse link
G Slc25a45 solute carrier family 25 member 45 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:21,008,292...21,015,084
Ensembl chrNW_004624767:21,008,344...21,014,732 		JBrowse link
G Slc29a2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,011,147...20,020,895
Ensembl chrNW_004624767:20,011,153...20,020,871 		JBrowse link
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,694,471...19,734,653
Ensembl chrNW_004624767:19,694,241...19,734,650 		JBrowse link
G Ssh3 slingshot protein phosphatase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,186,390...19,194,624
Ensembl chrNW_004624767:19,185,251...19,194,680 		JBrowse link
G Syt12 synaptotagmin 12 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,412,314...19,436,939
Ensembl chrNW_004624767:19,412,359...19,436,931 		JBrowse link
G Tbc1d10c TBC1 domain family member 10C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,112,416...19,119,929
Ensembl chrNW_004624767:19,113,470...19,119,602 		JBrowse link
G Tbx10 T-box transcription factor 10 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,918,933...18,923,369
Ensembl chrNW_004624767:18,919,516...18,924,547 		JBrowse link
G Tcirg1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,809,626...18,820,360
Ensembl chrNW_004624767:18,809,689...18,820,390 		JBrowse link
G Tesmin testis expressed metallothionein like protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,162,971...18,201,190
Ensembl chrNW_004624767:18,162,578...18,201,761 		JBrowse link
G Tigd3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:21,026,778...21,029,599
Ensembl chrNW_004624767:21,026,887...21,029,559 		JBrowse link
G Tmem134 transmembrane protein 134 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,059,642...19,064,267
Ensembl chrNW_004624767:19,059,726...19,064,031 		JBrowse link
G Tmem151a transmembrane protein 151A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,072,609...20,077,454
Ensembl chrNW_004624767:20,072,493...20,078,233 		JBrowse link
G Tpcn2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,877,791...17,944,190
Ensembl chrNW_004624767:17,918,080...17,944,653 		JBrowse link
G Tsga10ip testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,469,228...20,478,733 JBrowse link
G Unc93b1 unc-93 homolog B1, TLR signaling regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,859,990...18,869,083
Ensembl chrNW_004624767:18,860,017...18,868,581 		JBrowse link
G Yif1a Yip1 interacting factor homolog A, membrane trafficking protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,079,394...20,084,170
Ensembl chrNW_004624767:20,079,233...20,084,170 		JBrowse link
G Zdhhc24 zinc finger DHHC-type containing 24 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,846,848...19,867,591
Ensembl chrNW_004624767:19,859,483...19,869,380 		JBrowse link
G Znrd2 zinc ribbon domain containing 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,825,259...20,826,782
Ensembl chrNW_004624767:20,825,259...20,826,669 		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 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:372,181...377,411
Ensembl chrNW_004624901:372,205...376,958 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:707,322...932,658
Ensembl chrNW_004624901:708,234...932,643 		JBrowse link
G Calr calreticulin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:511,295...515,208
Ensembl chrNW_004624901:511,052...516,757 		JBrowse link
G Dand5 DAN domain BMP antagonist family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:534,828...538,923
Ensembl chrNW_004624901:535,137...538,384 		JBrowse link
G Dhps deoxyhypusine synthase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:315,096...319,411
Ensembl chrNW_004624901:315,096...319,380 		JBrowse link
G Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:464,211...466,979
Ensembl chrNW_004624901:464,223...467,161 		JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:492,673...505,815
Ensembl chrNW_004624901:492,817...505,911 		JBrowse link
G Fbxw9 F-box and WD repeat domain containing 9 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:326,657...333,203
Ensembl chrNW_004624901:326,428...334,035 		JBrowse link
G Gadd45gip1 GADD45G interacting protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:523,744...526,240
Ensembl chrNW_004624901:523,771...526,448 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:474,836...479,674
Ensembl chrNW_004624901:475,073...479,292 		JBrowse link
G Get3 guided entry of tail-anchored proteins factor 3, ATPase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:361,364...368,249
Ensembl chrNW_004624901:361,352...368,725 		JBrowse link
G Hook2 hook microtubule tethering protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:379,952...391,727
Ensembl chrNW_004624901:378,967...392,027 		JBrowse link
G Ier2 immediate early response 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:684,313...686,488
Ensembl chrNW_004624901:684,966...685,652 		JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:402,969...404,741
Ensembl chrNW_004624901:403,235...404,269 		JBrowse link
G Klf1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:467,937...471,917
Ensembl chrNW_004624901:468,662...471,500 		JBrowse link
G Lyl1 LYL1 basic helix-loop-helix family member ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:645,263...648,550
Ensembl chrNW_004624901:645,924...649,100 		JBrowse link
G Man2b1 mannosidase alpha class 2B member 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:285,981...307,177
Ensembl chrNW_004624901:285,978...307,249 		JBrowse link
G Mast1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:429,191...463,534
Ensembl chrNW_004624901:432,836...467,161 		JBrowse link
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:658,861...676,322
Ensembl chrNW_004624901:659,977...676,322 		JBrowse link
G Nfix nuclear factor I X ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:551,277...645,435
Ensembl chrNW_004624901:550,931...646,417 		JBrowse link
G Prdx2 peroxiredoxin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:407,240...410,902
Ensembl chrNW_004624901:406,257...410,866 		JBrowse link
G Rad23a RAD23 homolog A, nucleotide excision repair protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:515,761...522,845
Ensembl chrNW_004624901:516,855...523,337 		JBrowse link
G Rnaseh2a ribonuclease H2 subunit A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition OMIM
ClinVar		 PMID:9536098 PMID:10371528 PMID:10699052 PMID:11854167 PMID:15870678 More... NCBI chrNW_004624901:411,023...419,831
Ensembl chrNW_004624901:411,078...419,831 		JBrowse link
G Rtbdn retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:421,624...426,655 JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:478,860...491,577 JBrowse link
G Tnpo2 transportin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:334,277...351,653
Ensembl chrNW_004624901:334,154...352,060 		JBrowse link
G Trir telomerase RNA component interacting RNase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:356,151...360,001 JBrowse link
G Trmt1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:650,444...659,921
Ensembl chrNW_004624901:650,202...660,076 		JBrowse link
G Wdr83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:310,709...315,302
Ensembl chrNW_004624901:310,709...315,054 		JBrowse link
G Wdr83os WD repeat domain 83 opposite strand ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:309,058...310,663
Ensembl chrNW_004624901:309,058...310,686 		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 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004624842:2,118,996...2,127,981
Ensembl chrNW_004624842:2,118,955...2,129,291 		JBrowse link
G Ctnnbl1 catenin beta like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004624842:1,764,763...1,949,691
Ensembl chrNW_004624842:1,764,067...1,949,787 		JBrowse link
G Ghrh growth hormone releasing hormone ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004625146:5,484...8,763
Ensembl chrNW_004625146:6,381...13,318 		JBrowse link
G Manbal mannosidase beta like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004624842:2,285,820...2,312,335
Ensembl chrNW_004624842:2,285,706...2,312,540 		JBrowse link
G Nnat neuronatin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004624842:2,122,968...2,125,490 JBrowse link
G Rbl1 RB transcriptional corepressor like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004624842:2,495,015...2,565,220
Ensembl chrNW_004624842:2,494,911...2,563,421 		JBrowse link
G Rpn2 ribophorin II ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004624842:2,349,837...2,419,262
Ensembl chrNW_004624842:2,349,707...2,419,462 		JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chrNW_004624842:2,591,016...2,649,746
Ensembl chrNW_004624842:2,591,148...2,647,742 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004624842:2,212,561...2,260,514
Ensembl chrNW_004624842:2,211,020...2,230,132 		JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624842:2,649,943...2,668,957
Ensembl chrNW_004624842:2,626,897...2,668,822 		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 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 OMIM
ClinVar		 PMID:9536098 PMID:9889202 PMID:15146470 PMID:15489923 PMID:15955093 More... NCBI chrNW_004624885:2,783,058...2,839,688
Ensembl chrNW_004624885:2,812,448...2,839,693 		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 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 | ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19264985 PMID:19324880 More... NCBI chrNW_004624732:3,187,791...3,248,795
Ensembl chrNW_004624732:3,187,791...3,250,981 		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 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 OMIM
ClinVar		 PMID:33230297 NCBI chrNW_004624733:31,720,054...31,730,809
Ensembl chrNW_004624733:31,723,022...31,730,724 		JBrowse link
Aicardi-Goutieres Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH12orf57 chromosome unknown C12orf57 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 ClinVar PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 NCBI chrNW_004624860:3,578,147...3,580,059
Ensembl chrNW_004624860:3,578,336...3,580,059 		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 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction OMIM
ClinVar		 PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chrNW_004624870:3,576,995...3,632,964
Ensembl chrNW_004624870:3,577,386...3,632,967 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO 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 chrNW_004624870:3,552,608...3,575,461
Ensembl chrNW_004624870:3,552,745...3,574,880 		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 chrNW_004624754:24,138,086...24,140,900 JBrowse link
G Agt angiotensinogen ISO RGD PMID:23291307 RGD:8549476 NCBI chrNW_004624775:18,846,222...18,856,093
Ensembl chrNW_004624775:18,849,118...18,855,577 		JBrowse link
G Atp5f1d ATP synthase F1 subunit delta treatment ISO associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945 NCBI chrNW_004624828:7,429,915...7,432,898
Ensembl chrNW_004624828:7,429,915...7,432,562 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO RGD PMID:15625282 RGD:13204716 NCBI chrNW_004624753:5,918,005...5,983,480
Ensembl chrNW_004624753:5,917,689...5,982,308 		JBrowse link
G Grp gastrin releasing peptide treatment ISO associated with chronic kidney disease RGD PMID:32192106 RGD:329961569 NCBI chrNW_004624792:4,623,082...4,633,545
Ensembl chrNW_004624792:4,623,097...4,633,570 		JBrowse link
G Gsn gelsolin disease_progression ISO protein:decreased expression:blood (human) RGD PMID:26941566 RGD:329336117 NCBI chrNW_004624760:13,943,680...14,004,660
Ensembl chrNW_004624760:13,943,888...13,969,905 		JBrowse link
G Sod1 superoxide dismutase 1 ISO associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chrNW_004624745:20,032,003...20,037,958
Ensembl chrNW_004624745:20,032,011...20,037,958 		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 chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367 		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 chrNW_004624782:14,141,545...14,144,181
Ensembl chrNW_004624782:14,141,545...14,144,177 		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 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:25741868 PMID:28074886 PMID:28492532 PMID:30858776 PMID:31903434 More... NCBI chrNW_004624760:2,593,923...2,713,772
Ensembl chrNW_004624760:2,593,961...2,713,772 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO mRNA:increased expression:aorta (rat) RGD PMID:22659116 RGD:12914785 NCBI chrNW_004624753:5,918,005...5,983,480
Ensembl chrNW_004624753:5,917,689...5,982,308 		JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:25741868 PMID:28387797 PMID:28492532 PMID:30675029 NCBI chrNW_004624741:28,310,679...28,322,209
Ensembl chrNW_004624741:28,310,201...28,321,095 		JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:23969418 RGD:12792206 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Aortic valve disease 1 | ClinVar Annotator: match by term: NOTCH1-related condition OMIM
ClinVar		 PMID:9536098 PMID:15472075 PMID:16025100 PMID:16614245 PMID:16729972 More... NCBI chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:28492532 PMID:30796334 NCBI chrNW_004624781:6,043,183...6,108,959
Ensembl chrNW_004624781:6,042,904...6,107,860 		JBrowse link
G Tbx20 T-box transcription factor 20 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:19762328 PMID:25741868 PMID:27510170 PMID:27642787 PMID:28553164 More... NCBI chrNW_004624740:25,645,526...25,698,235
Ensembl chrNW_004624740:25,645,895...25,697,132 		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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25758222 NCBI chrNW_004624782:590,174...640,576
Ensembl chrNW_004624782:594,511...640,180 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Idiopathic infantile arterial calcification ClinVar PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 More... NCBI chrNW_004624753:5,918,005...5,983,480
Ensembl chrNW_004624753:5,917,689...5,982,308 		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 chrNW_004624882:3,072,970...3,083,832
Ensembl chrNW_004624882:3,072,313...3,082,505 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO RGD PMID:2106357 RGD:6483581 NCBI chrNW_004624885:1,526,625...1,528,235
Ensembl chrNW_004624885:1,527,538...1,528,109 		JBrowse link
G Casr calcium sensing receptor ISO ClinVar Annotator: match by term: Autosomal dominant hypocalcemia ClinVar PMID:8675635 PMID:8878438 PMID:9039332 PMID:11136551 PMID:11701698 More... NCBI chrNW_004624912:485,252...613,572
Ensembl chrNW_004624912:485,258...614,656 		JBrowse link
G LOC101700851 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ISO RGD PMID:11416220 RGD:734871 NCBI chrNW_004624802:10,176,865...10,181,725
Ensembl chrNW_004624802:10,176,919...10,181,657 		JBrowse link
G Pth parathyroid hormone ISO protein:increased expression:serum (rat) RGD PMID:22581996 RGD:7242904 NCBI chrNW_004624766:5,489,857...5,492,777
Ensembl chrNW_004624766:5,489,800...5,492,871 		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 ISO ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1 | ClinVar Annotator: match by term: HYPOCALCEMIA, FAMILIAL OMIM
ClinVar		 PMID:791660 PMID:1302026 PMID:1706284 PMID:7054696 PMID:7726161 More... NCBI chrNW_004624912:485,252...613,572
Ensembl chrNW_004624912:485,258...614,656 		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 ISO ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 2 | ClinVar Annotator: match by term: GNA11-related condition OMIM
ClinVar		 PMID:6278146 PMID:23802516 PMID:23802536 PMID:24823460 PMID:25741868 More... NCBI chrNW_004624828:6,078,485...6,093,744
Ensembl chrNW_004624828:6,077,851...6,093,750 		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 ISO ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome ClinVar PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 More... NCBI chrNW_004624912:485,252...613,572
Ensembl chrNW_004624912:485,258...614,656 		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 ISO ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT OMIM
ClinVar		 PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More... NCBI chrNW_004624860:1,478,712...1,486,808
Ensembl chrNW_004624860:1,479,303...1,486,323 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets ClinVar PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 More... NCBI chrNW_004624829:6,960,740...7,151,752
Ensembl chrNW_004624829:6,960,904...7,151,752 		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 ISO ClinVar Annotator: match by term: DMP1-related condition | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624872:4,169,052...4,184,189
Ensembl chrNW_004624872:4,177,624...4,183,234 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 More... NCBI chrNW_004624753:5,918,005...5,983,480
Ensembl chrNW_004624753:5,917,689...5,982,308 		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 (putative) ISO OMIM:114100 | OMIM:213600 | OMIM:615007 | OMIM:615483 MouseDO NCBI chrNW_004624736:38,775,648...38,786,112 JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chrNW_004624774:9,432,765...9,469,690
Ensembl chrNW_004624774:9,432,541...9,469,881 		JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chrNW_004624780:725,992...833,419
Ensembl chrNW_004624780:779,900...832,137 		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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chrNW_004624734:507,880...525,295
Ensembl chrNW_004624734:509,368...525,295 		JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:24374105 RGD:11352276 NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 ameliorates ISO RGD PMID:22699504 RGD:155641244 NCBI chrNW_004624804:8,179,729...8,189,001
Ensembl chrNW_004624804:8,179,731...8,191,284 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 severity ISO RGD PMID:15120829 RGD:12910476 NCBI chrNW_004624889:2,736,727...2,746,333 JBrowse link
G Meis2 Meis homeobox 2 ISO mRNA,protein:decreased expression:aortic valve: RGD PMID:30594396 RGD:155598679 NCBI chrNW_004624804:4,210,765...4,413,284
Ensembl chrNW_004624804:4,210,770...4,413,261 		JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16025100 NCBI chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells RGD PMID:25722432 RGD:13207434 NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728 		JBrowse link
G Pth parathyroid hormone disease_progression ISO protein:increased expression:serum (rat) RGD PMID:22634235 RGD:7242900 NCBI chrNW_004624766:5,489,857...5,492,777
Ensembl chrNW_004624766:5,489,800...5,492,871 		JBrowse link
G Ptpn1 protein tyrosine phosphatase non-receptor type 1 ISO protein:increased expression:aortic valve (human) RGD PMID:35958694 RGD:401976381 NCBI chrNW_004624790:5,070,537...5,135,243
Ensembl chrNW_004624790:5,073,476...5,135,181 		JBrowse link
G Slc20a1 solute carrier family 20 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chrNW_004624749:12,631,259...12,702,867 JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16177000 NCBI chrNW_004624730:70,149,461...70,156,058
Ensembl chrNW_004624730:70,149,850...70,156,039 		JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:21193197 NCBI chrNW_004624764:6,393,741...6,447,739
Ensembl chrNW_004624764:6,393,765...6,447,829 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:increased expression:dermis:
associated with hypertension;protein:undercarboxylated:serum
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:18422975 PMID:20197689 PMID:21335463 RGD:6483566 RGD:9068449 NCBI chrNW_004624885:1,526,625...1,528,235
Ensembl chrNW_004624885:1,527,538...1,528,109 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30963258 PMID:31843813 NCBI chrNW_004624741:7,706,205...7,717,677
Ensembl chrNW_004624741:7,706,236...7,719,484 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743 		JBrowse link
G C6 complement C6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004624759:13,775,339...13,842,415
Ensembl chrNW_004624759:13,775,358...13,842,648 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004624745:30,754,654...30,792,352
Ensembl chrNW_004624745:30,754,820...30,791,426 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071 		JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22267198 NCBI chrNW_004624786:10,795,848...10,819,029
Ensembl chrNW_004624786:10,795,193...10,819,613 		JBrowse link
G Ctnnb1 catenin beta 1 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chrNW_004624730:77,876,361...77,887,228
Ensembl chrNW_004624730:77,875,257...77,887,234 		JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18340010 NCBI chrNW_004624762:22,306,962...24,846,427
Ensembl chrNW_004624762:22,746,729...24,847,938 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO associated with Breast Neoplasms;protein:increased expression:breast RGD PMID:18256879 RGD:2289923 NCBI chrNW_004624795:3,373,313...3,391,509
Ensembl chrNW_004624795:3,373,000...3,391,602 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chrNW_004624860:1,478,712...1,486,808
Ensembl chrNW_004624860:1,479,303...1,486,323 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chrNW_004624787:3,557,946...3,613,235
Ensembl chrNW_004624787:3,559,903...3,591,615 		JBrowse link
G Gpx1 glutathione peroxidase 1 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P197L (human) RGD PMID:17825092 RGD:2306608 NCBI chrNW_004624730:3,313,773...3,314,870
Ensembl chrNW_004624730:3,313,972...3,314,626 		JBrowse link
G Il18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760 		JBrowse link
G Itgb1 integrin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18340010 NCBI chrNW_004624805:8,748,848...8,800,259
Ensembl chrNW_004624805:8,765,949...8,802,149 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004624745:30,452,576...30,479,036
Ensembl chrNW_004624745:30,452,576...30,470,611 		JBrowse link
G Jak2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004624736:9,724,876...9,827,364
Ensembl chrNW_004624736:9,724,369...9,830,365 		JBrowse link
G Kl klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chrNW_004624915:95,155...110,834 JBrowse link
G Lsp1 lymphocyte specific protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004624767:14,747,861...14,779,941 JBrowse link
G Ly86 lymphocyte antigen 86 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004624756:18,770,503...18,821,191
Ensembl chrNW_004624756:18,770,503...18,820,672 		JBrowse link
G Mgp matrix Gla protein ISO RGD PMID:15045141 RGD:1582501 NCBI chrNW_004624752:23,146,025...23,149,266
Ensembl chrNW_004624752:23,146,166...23,149,048 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15545515 PMID:21193197 NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15545515 PMID:21193197 NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713 		JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22110751 NCBI chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531 		JBrowse link
G Nr1i2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30963258 NCBI chrNW_004624731:28,371,707...28,405,327
Ensembl chrNW_004624731:28,371,707...28,381,357 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chrNW_004624752:9,072,471...9,088,289
Ensembl chrNW_004624752:9,072,512...9,088,593 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chrNW_004624774:9,432,765...9,469,690
Ensembl chrNW_004624774:9,432,541...9,469,881 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6143199 NCBI chrNW_004624738:7,442,223...7,448,513
Ensembl chrNW_004624738:7,442,292...7,445,020 		JBrowse link
G Ptpn6 protein tyrosine phosphatase non-receptor type 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004624860:3,580,225...3,595,403
Ensembl chrNW_004624860:3,580,560...3,595,090 		JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004624782:14,247,333...14,249,861
Ensembl chrNW_004624782:14,247,864...14,249,000 		JBrowse link
G Ripk3 receptor interacting serine/threonine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004624820:8,165,546...8,169,172 JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chrNW_004624780:725,992...833,419
Ensembl chrNW_004624780:779,900...832,137 		JBrowse link
G Slc22a6 solute carrier family 22 member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12803500 NCBI chrNW_004624926:1,363,322...1,368,768
Ensembl chrNW_004624926:1,363,431...1,368,534 		JBrowse link
G Snai2 snail family transcriptional repressor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chrNW_004624735:6,594,564...6,598,288
Ensembl chrNW_004624735:6,594,695...6,598,757 		JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chrNW_004624733:37,348,993...37,369,804
Ensembl chrNW_004624733:37,338,284...37,369,804 		JBrowse link
G Spn sialophorin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004624782:13,471,083...13,483,712 JBrowse link
G Spp1 secreted phosphoprotein 1 ISO protein:increased expression:dermis:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:18390899 PMID:18422975 PMID:21193197 PMID:21335463 RGD:6903869 RGD:9068449 NCBI chrNW_004624872:4,505,796...4,513,247
Ensembl chrNW_004624872:4,505,522...4,513,742 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24142982 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chrNW_004624978:120,723...125,006
Ensembl chrNW_004624978:121,803...124,912 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24142982 NCBI chrNW_004624801:8,228,618...8,270,606
Ensembl chrNW_004624801:8,228,357...8,270,982 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30963258 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Xpr1 xenotropic and polytropic retrovirus receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chrNW_004624771:941,835...1,147,314
Ensembl chrNW_004624771:942,036...1,141,286 		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 ISO ClinVar Annotator: match by term: Coats plus syndrome ClinVar PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chrNW_004624786:10,795,848...10,819,029
Ensembl chrNW_004624786:10,795,193...10,819,613 		JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624831:2,999,061...3,030,447
Ensembl chrNW_004624831:2,999,800...3,030,443 		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 ISO 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 chrNW_004624786:10,795,848...10,819,029
Ensembl chrNW_004624786:10,795,193...10,819,613 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624786:10,831,287...10,854,526
Ensembl chrNW_004624786:10,836,943...10,853,274 		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 ISO 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 chrNW_004624831:2,999,061...3,030,447
Ensembl chrNW_004624831:2,999,800...3,030,443 		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 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 ClinVar
OMIM		 PMID:27013236 PMID:28492532 NCBI chrNW_004624783:11,138,222...11,223,329
Ensembl chrNW_004624783:11,138,303...11,223,044 		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 ISO 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 chrNW_004624753:5,918,005...5,983,480
Ensembl chrNW_004624753:5,917,689...5,982,308 		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 ISO DNA:SNP:intron: (rs12526453) (human)
DNA:SNP:intron:g.13011943A>G (rs9349379) (human)
associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human)		 RGD PMID:23394302 PMID:23561647 PMID:26789557 PMID:34241534 RGD:11054804 RGD:11057923 RGD:11058683 RGD:401901247 NCBI chrNW_004624756:12,935,048...13,449,312
Ensembl chrNW_004624756:12,934,212...13,447,326 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b severity ISO associated with Kidney Failure, Chronic RGD PMID:22943310 RGD:7205482 NCBI chrNW_004624763:17,139,109...17,166,398
Ensembl chrNW_004624763:17,138,847...17,166,453 		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 ISO associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chrNW_004624761:1,422,857...1,498,726 JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chrNW_004624731:11,086,240...11,318,111
Ensembl chrNW_004624731:11,086,844...11,318,102 		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) ISO OMIM:106400 MouseDO NCBI chrNW_004624754:15,623,960...15,636,377
Ensembl chrNW_004624754:15,624,429...15,632,996 		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 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624912:1,632,469...1,767,885
Ensembl chrNW_004624912:1,632,107...1,768,462 		JBrowse link
G Casr calcium sensing receptor ISO 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 chrNW_004624912:485,252...613,572
Ensembl chrNW_004624912:485,258...614,656 		JBrowse link
G Ccdc14 coiled-coil domain containing 14 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624912:2,270,467...2,316,998
Ensembl chrNW_004624912:2,269,829...2,317,154 		JBrowse link
G Cd86 CD86 molecule ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712 		JBrowse link
G Csta cystatin A ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:11807402 PMID:20798521 PMID:28492532 NCBI chrNW_004624912:657,771...671,304
Ensembl chrNW_004624912:657,774...671,329 		JBrowse link
G Dtx3l deltex E3 ubiquitin ligase 3L ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624912:871,024...880,299
Ensembl chrNW_004624912:871,584...880,626 		JBrowse link
G Eaf2 ELL associated factor 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624912:112,793...168,553
Ensembl chrNW_004624912:112,843...168,553 		JBrowse link
G Fam162a family with sequence similarity 162 member A ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624912:739,804...763,149
Ensembl chrNW_004624912:739,917...762,939 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624930:1,043,643...1,054,216
Ensembl chrNW_004624930:1,043,036...1,054,216 		JBrowse link
G Hacd2 3-hydroxyacyl-CoA dehydratase 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624912:1,814,906...1,916,584
Ensembl chrNW_004624912:1,814,906...1,917,009 		JBrowse link
G Heg1 heart development protein with EGF like domains 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624731:1,015,889...1,092,875
Ensembl chrNW_004624731:1,020,805...1,092,995 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:11018746 PMID:23975452 PMID:25481104 PMID:28492532 NCBI chrNW_004624797:14,148,580...14,184,471 JBrowse link
G Hspbap1 HSPB1 associated protein 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624912:1,023,981...1,102,153
Ensembl chrNW_004624912:1,023,567...1,100,937 		JBrowse link
G Ildr1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624912:269,657...300,537
Ensembl chrNW_004624912:267,185...300,550 		JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624912:56,209...112,766
Ensembl chrNW_004624912:56,946...113,438 		JBrowse link
G Itgb5 integrin subunit beta 5 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624731:804,272...914,204
Ensembl chrNW_004624731:802,854...914,167 		JBrowse link
G Kalrn kalirin RhoGEF kinase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624731:54,934...756,707
Ensembl chrNW_004624731:121,122...752,942 		JBrowse link
G Kpna1 karyopherin subunit alpha 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624912:772,420...822,580 JBrowse link
G Mix23 mitochondrial matrix import factor 23 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624912:696,488...739,862
Ensembl chrNW_004624912:694,859...727,275 		JBrowse link
G Muc13 mucin 13, cell surface associated ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624731:943,067...955,989 JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624912:1,952,053...2,213,196
Ensembl chrNW_004624912:1,953,838...2,172,561 		JBrowse link
G Ocrl OCRL inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:19390221 PMID:21031565 PMID:22381590 PMID:23047739 PMID:25326635 More... NCBI chrNW_004624797:8,731,130...8,792,300
Ensembl chrNW_004624797:8,730,713...8,792,727 		JBrowse link
G Osbpl11 oxysterol binding protein like 11 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624730:73,322,753...73,390,283
Ensembl chrNW_004624730:73,322,639...73,391,823 		JBrowse link
G Parp14 poly(ADP-ribose) polymerase family member 14 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624912:969,144...1,022,506
Ensembl chrNW_004624912:969,236...1,023,564 		JBrowse link
G Parp9 poly(ADP-ribose) polymerase family member 9 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624912:827,112...968,501
Ensembl chrNW_004624912:827,547...859,199 		JBrowse link
G Pdia5 protein disulfide isomerase family A member 5 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624912:1,408,645...1,523,498 JBrowse link
G Ropn1 rhophilin associated tail protein 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624912:2,324,166...2,351,147
Ensembl chrNW_004624912:2,324,406...2,351,181 		JBrowse link
G Sec22a SEC22 homolog A, vesicle trafficking protein ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624912:1,531,620...1,628,265 JBrowse link
G Sema5b semaphorin 5B ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624912:1,244,801...1,370,253
Ensembl chrNW_004624912:1,244,801...1,280,609 		JBrowse link
G Slc12a8 solute carrier family 12 member 8 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624731:1,114,079...1,259,832
Ensembl chrNW_004624731:1,113,489...1,259,344 		JBrowse link
G Slc15a2 solute carrier family 15 member 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624912:180,048...222,909
Ensembl chrNW_004624912:179,969...222,909 		JBrowse link
G Slc49a4 solute carrier family 49 member 4 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624912:1,102,252...1,212,569
Ensembl chrNW_004624912:1,102,279...1,212,569 		JBrowse link
G Snx4 sorting nexin 4 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624731:1,522,467...1,585,793
Ensembl chrNW_004624731:1,522,098...1,586,066 		JBrowse link
G Umps uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624731:761,235...780,355
Ensembl chrNW_004624731:761,210...779,321 		JBrowse link
G Wdr5b WD repeat domain 5B ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624912:762,893...766,690
Ensembl chrNW_004624912:764,076...766,647 		JBrowse link
G Znf148 zinc finger protein 148 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004624731:1,271,478...1,410,047
Ensembl chrNW_004624731:1,278,242...1,354,063 		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 ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1 OMIM
ClinVar		 PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2211966 More... NCBI chrNW_004624912:485,252...613,572
Ensembl chrNW_004624912:485,258...614,656 		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 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 | ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, type II OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23802516 PMID:23802536 PMID:25741868 More... NCBI chrNW_004624828:6,078,485...6,093,744
Ensembl chrNW_004624828:6,077,851...6,093,750 		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 ISO ClinVar Annotator: match by term: AP2S1-related condition | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3 OMIM
ClinVar		 PMID:1524075 PMID:9536098 PMID:17576681 PMID:20133464 PMID:23222959 More... NCBI chrNW_004624832:6,788,149...6,797,026
Ensembl chrNW_004624832:6,787,149...6,797,131 		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 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624893:1,390,417...1,581,457
Ensembl chrNW_004624893:1,390,344...1,577,110 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets ClinVar PMID:9097956 PMID:9199930 PMID:11468271 PMID:12727977 PMID:18625346 More... NCBI chrNW_004624829:6,960,740...7,151,752
Ensembl chrNW_004624829:6,960,904...7,151,752 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chrNW_004624805:5,801,392...5,813,696 JBrowse link
G Vdr vitamin D receptor ISO 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 chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514 		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 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chrNW_004624753:6,022,033...6,024,866
Ensembl chrNW_004624753:6,023,069...6,024,833 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 OMIM
ClinVar		 PMID:8960499 PMID:9536098 PMID:9662402 PMID:10453738 PMID:10480624 More... NCBI chrNW_004624753:5,918,005...5,983,480
Ensembl chrNW_004624753:5,917,689...5,982,308 		JBrowse link
G Enpp3 ectonucleotide pyrophosphatase/phosphodiesterase 3 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chrNW_004624753:5,817,129...5,889,089
Ensembl chrNW_004624753:5,817,235...5,890,469 		JBrowse link
G Znf292 zinc finger protein 292 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar PMID:25741868 NCBI chrNW_004624799:7,092,429...7,183,892
Ensembl chrNW_004624799:7,086,078...7,180,234 		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 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 2 OMIM
ClinVar		 PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... NCBI chrNW_004624782:590,174...640,576
Ensembl chrNW_004624782:594,511...640,180 		JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101703804 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: GRACILE syndrome OMIM
ClinVar		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chrNW_004624823:6,392,959...6,397,419
Ensembl chrNW_004624823:6,392,959...6,396,854 		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 ISO ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia OMIM
ClinVar		 PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More... NCBI chrNW_004624835:6,469,677...6,489,790 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 susceptibility ISO ClinVar Annotator: match by term: HMOX1-related condition | ClinVar Annotator: match by term: Heme oxygenase 1 deficiency OMIM
ClinVar		 PMID:9884342 PMID:16199547 PMID:21088618 PMID:22023467 PMID:25741868 More... NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887 		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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18624455 NCBI chrNW_004624765:18,406,859...18,474,905
Ensembl chrNW_004624765:18,406,758...18,475,918 		JBrowse link
G Alad aminolevulinate dehydratase treatment ISO RGD PMID:3679087 RGD:12904688 NCBI chrNW_004624760:21,698,689...21,709,907
Ensembl chrNW_004624760:21,698,587...21,711,822 		JBrowse link
G Alas2 5'-aminolevulinate synthase 2 severity ISO DNA:mutation:cds:c.15599C>T,p.520L(human) RGD PMID:16446107 RGD:11035246 NCBI chrNW_004624910:426,273...726,778
Ensembl chrNW_004624910:426,032...448,325 		JBrowse link
G B2m beta-2-microglobulin ISO OMIM:231100 MouseDO NCBI chrNW_004624804:11,514,728...11,521,625 JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624741:7,706,205...7,717,677
Ensembl chrNW_004624741:7,706,236...7,719,484 		JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19252486 PMID:19252488 NCBI chrNW_004624756:17,742,822...17,894,931
Ensembl chrNW_004624756:17,743,834...17,894,753 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17258727 NCBI chrNW_004624730:26,458,554...26,510,796
Ensembl chrNW_004624730:26,462,550...26,511,078 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hemochromatosis, juvenile, digenic | ClinVar Annotator: match by term: Hereditary hemochromatosis ClinVar PMID:9536098 PMID:12915468 PMID:14630809 PMID:14670915 PMID:15024747 More... NCBI chrNW_004624794:8,257,760...8,259,243
Ensembl chrNW_004624794:8,257,760...8,259,264 		JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: HFE INTRONIC POLYMORPHISM | ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis ClinVar PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chrNW_004624756:821,738...831,482
Ensembl chrNW_004624756:823,947...831,376 		JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO CTD Direct Evidence: marker/mechanism
juvenile hemochromatosis, type 2A, OMIM:602390 protein:substitution:CDS:G320V		 CTD
RGD		 PMID:14647275 PMID:16868025 PMID:17255318 PMID:19252486 PMID:21411349 RGD:1599478 NCBI chrNW_004624772:17,363,062...17,367,320
Ensembl chrNW_004624772:17,360,207...17,367,373 		JBrowse link
G Hmox1 heme oxygenase 1 ISO OMIM:231100 MouseDO NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887 		JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11439223 NCBI chrNW_004624816:1,345,020...1,389,615
Ensembl chrNW_004624816:1,345,006...1,384,299 		JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Hereditary hemochromatosis ClinVar PMID:25741868 NCBI chrNW_004624899:685,166...701,725
Ensembl chrNW_004624899:685,097...702,440 		JBrowse link
G Tfr2 transferrin receptor 2 ISO ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis ClinVar PMID:9536098 PMID:10802645 PMID:11102989 PMID:11313241 PMID:11358389 More... NCBI chrNW_004624740:16,451,520...16,469,393
Ensembl chrNW_004624740:16,452,504...16,466,781 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:-308G>A (human)
DNA:SNP:promoter:-238G>A (rs361525) (human)		 CTD
RGD		 PMID:11389006 PMID:16793930 RGD:12904050 RGD:12904656 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
hemochromatosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp2 bone morphogenetic protein 2 ISO OMIM NCBI chrNW_004624741:7,706,205...7,717,677
Ensembl chrNW_004624741:7,706,236...7,719,484 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:12915468 PMID:19214511 PMID:28492532 NCBI chrNW_004624794:8,257,760...8,259,243
Ensembl chrNW_004624794:8,257,760...8,259,264 		JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: HFE-related condition | ClinVar Annotator: match by term: Hemochromatosis type 1 OMIM
ClinVar		 PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chrNW_004624756:821,738...831,482
Ensembl chrNW_004624756:823,947...831,376 		JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 PMID:15138164 More... NCBI chrNW_004624772:17,363,062...17,367,320
Ensembl chrNW_004624772:17,360,207...17,367,373 		JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:28492532 NCBI chrNW_004624899:685,166...701,725
Ensembl chrNW_004624899:685,097...702,440 		JBrowse link
G Tfr2 transferrin receptor 2 ISO ClinVar Annotator: match by term: Hemochromatosis type 1 | ClinVar Annotator: match by term: Hemochromatosis, type 1, modifier of ClinVar PMID:12150153 PMID:16424658 PMID:20301523 PMID:22890139 PMID:23600741 More... NCBI chrNW_004624740:16,451,520...16,469,393
Ensembl chrNW_004624740:16,452,504...16,466,781 		JBrowse link
hemochromatosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Juvenile hemochromatosis ClinVar NCBI chrNW_004624794:8,257,760...8,259,243
Ensembl chrNW_004624794:8,257,760...8,259,264 		JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: Juvenile hemochromatosis ClinVar PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chrNW_004624756:821,738...831,482
Ensembl chrNW_004624756:823,947...831,376 		JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Juvenile hemochromatosis ClinVar PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 PMID:15254010 More... NCBI chrNW_004624772:17,363,062...17,367,320
Ensembl chrNW_004624772:17,360,207...17,367,373 		JBrowse link
hemochromatosis type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd34a ankyrin repeat domain 34A ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chrNW_004624772:17,315,076...17,330,487
Ensembl chrNW_004624772:17,314,813...17,320,009 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hemochromatosis, type 2a, modifier of ClinVar PMID:12915468 PMID:19214511 PMID:28492532 NCBI chrNW_004624794:8,257,760...8,259,243
Ensembl chrNW_004624794:8,257,760...8,259,264 		JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: HJV-related condition | ClinVar Annotator: match by term: Hemochromatosis type 2A OMIM
ClinVar		 PMID:12482411 PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 More... NCBI chrNW_004624772:17,363,062...17,367,320
Ensembl chrNW_004624772:17,360,207...17,367,373 		JBrowse link
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chrNW_004624772:17,320,090...17,328,492
Ensembl chrNW_004624772:17,281,782...17,328,628 		JBrowse link
G Txnip thioredoxin interacting protein ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chrNW_004624772:17,341,918...17,345,964
Ensembl chrNW_004624772:17,341,630...17,345,960 		JBrowse link
hemochromatosis type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hemochromatosis type 2B OMIM
ClinVar		 PMID:12469120 PMID:12915468 PMID:15082576 PMID:15099344 PMID:15198949 More... NCBI chrNW_004624794:8,257,760...8,259,243
Ensembl chrNW_004624794:8,257,760...8,259,264 		JBrowse link
hemochromatosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfr2 transferrin receptor 2 ISO ClinVar Annotator: match by term: Hemochromatosis type 3 | ClinVar Annotator: match by term: Hereditary hemochromatosis type 3 | ClinVar Annotator: match by term: TFR2-related condition OMIM
ClinVar		 PMID:9536098 PMID:10802645 PMID:11102989 PMID:11313241 PMID:11358389 More... NCBI chrNW_004624740:16,451,520...16,469,393
Ensembl chrNW_004624740:16,452,504...16,466,781 		JBrowse link
hemochromatosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc40a1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Hemochromatosis due to defect in ferroportin | ClinVar Annotator: match by term: Hemochromatosis type 4 OMIM
ClinVar		 PMID:9536098 PMID:11431687 PMID:11518736 PMID:12730114 PMID:12857562 More... NCBI chrNW_004624899:685,166...701,725
Ensembl chrNW_004624899:685,097...702,440 		JBrowse link
hemochromatosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 5 ClinVar PMID:14615048 PMID:25741868 PMID:28492532 NCBI chrNW_004624926:471,073...478,436
Ensembl chrNW_004624926:472,176...478,214 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 5 OMIM
ClinVar		 PMID:11389486 PMID:14615048 PMID:25741868 PMID:28492532 NCBI chrNW_004624926:469,870...471,142 JBrowse link
G Tfr2 transferrin receptor 2 ISO ClinVar Annotator: match by term: Hereditary hemochromatosis type 5 ClinVar PMID:28492532 NCBI chrNW_004624740:16,451,520...16,469,393
Ensembl chrNW_004624740:16,452,504...16,466,781 		JBrowse link
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jam3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | ClinVar Annotator: match by term: JAM3-related condition OMIM
ClinVar		 PMID:21109224 PMID:23255084 PMID:25741868 PMID:25741869 PMID:28492532 More... NCBI chrNW_004624812:8,644,002...8,707,257
Ensembl chrNW_004624812:8,643,921...8,707,351 		JBrowse link
hemosiderosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cp ceruloplasmin susceptibility ISO DNA:splice-site mutation RGD PMID:7539672 RGD:1599626 NCBI chrNW_004624730:26,458,554...26,510,796
Ensembl chrNW_004624730:26,462,550...26,511,078 		JBrowse link
hereditary arterial and articular multiple calcification syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nt5e 5'-nucleotidase ecto ISO ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome | ClinVar Annotator: match by term: NT5E-related condition OMIM
ClinVar		 PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532 NCBI chrNW_004624799:8,766,608...8,845,296
Ensembl chrNW_004624799:8,765,711...8,845,778 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:22386825 RGD:7205494 NCBI chrNW_004624763:17,139,109...17,166,398
Ensembl chrNW_004624763:17,138,847...17,166,453 		JBrowse link
hereditary hypophosphatemic rickets with hypercalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO protein:decreased expression:plasma (mouse) RGD PMID:19570882 RGD:7242924 NCBI chrNW_004624766:5,489,857...5,492,777
Ensembl chrNW_004624766:5,489,800...5,492,871 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO OMIM:241530
DNA:deletions, snps:multiple (human)		 RGD
MouseDO		 PMID:16358215 PMID:19570882 RGD:7242924 RGD:7242925 NCBI chrNW_004624733:12,685,544...12,699,908
Ensembl chrNW_004624733:12,685,546...12,699,901 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition OMIM
ClinVar		 PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 More... NCBI chrNW_004624760:720,539...725,940
Ensembl chrNW_004624760:720,472...725,551 		JBrowse link
hypercalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calca calcitonin related polypeptide alpha ISO CTD Direct Evidence: therapeutic CTD PMID:1115441 PMID:12637657 NCBI chrNW_004624766:6,764,388...6,771,396
Ensembl chrNW_004624766:6,766,185...6,768,173 		JBrowse link
G Calcr calcitonin receptor ISO CTD Direct Evidence: therapeutic CTD PMID:18627265 NCBI chrNW_004624813:233,117...357,507
Ensembl chrNW_004624813:233,042...357,396 		JBrowse link
G Casr calcium sensing receptor ISO ClinVar Annotator: match by term: Hypercalcemia ClinVar PMID:8675635 PMID:8878438 PMID:15591042 PMID:17284438 PMID:19389809 More... NCBI chrNW_004624912:485,252...613,572
Ensembl chrNW_004624912:485,258...614,656 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10638776 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
G Kl klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chrNW_004624915:95,155...110,834 JBrowse link
G LOC101700851 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:20427501 NCBI chrNW_004624802:10,176,865...10,181,725
Ensembl chrNW_004624802:10,176,919...10,181,657 		JBrowse link
G LOC101716773 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chrNW_004624790:2,183,079...2,200,219
Ensembl chrNW_004624790:2,182,598...2,200,425 		JBrowse link
G Pth parathyroid hormone ISO associated with Kidney Failure, Chronic
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:4004906 PMID:7891547 PMID:9382671 PMID:10638776 PMID:12399635 More... RGD:7242689 NCBI chrNW_004624766:5,489,857...5,492,777
Ensembl chrNW_004624766:5,489,800...5,492,871 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO protein:increased expression:odontoblast; associated with neoplasms RGD PMID:16036863 RGD:1599980 NCBI chrNW_004624730:74,371,614...74,392,344
Ensembl chrNW_004624730:74,371,294...74,390,262 		JBrowse link
G Pthlh parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:3616618 PMID:10638776 PMID:11054717 PMID:12358896 NCBI chrNW_004624778:8,007,358...8,019,538
Ensembl chrNW_004624778:8,008,056...8,019,612 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9560283 NCBI chrNW_004624733:12,685,544...12,699,908
Ensembl chrNW_004624733:12,685,546...12,699,901 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10638776 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b ISO CTD Direct Evidence: therapeutic CTD PMID:15845617 NCBI chrNW_004624763:17,139,109...17,166,398
Ensembl chrNW_004624763:17,138,847...17,166,453 		JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15845617 NCBI chrNW_004624748:12,527,221...12,555,551
Ensembl chrNW_004624748:12,527,478...12,555,405 		JBrowse link
Hypercalcemia, Infantile, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kl klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:20394945 NCBI chrNW_004624915:95,155...110,834 JBrowse link
G LOC101716773 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial ISO ClinVar Annotator: match by term: Hypercalcemia, infantile, 1 OMIM
ClinVar		 PMID:3490596 PMID:19961857 PMID:21675912 PMID:22047571 PMID:22100522 More... NCBI chrNW_004624790:2,183,079...2,200,219
Ensembl chrNW_004624790:2,182,598...2,200,425 		JBrowse link
Hypercalcemia, Infantile, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hypercalcemia, infantile, 2 OMIM
ClinVar		 PMID:9536098 PMID:12324554 PMID:16199547 PMID:16688119 PMID:17576681 More... NCBI chrNW_004624733:12,685,544...12,699,908
Ensembl chrNW_004624733:12,685,546...12,699,901 		JBrowse link
Hypercalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium sensing receptor susceptibility
no_association		 ISO associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutation:cds:p.R990G (human)
mRNA, protein:increased expression:kidney (rat)
associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutations:cds:p.A986S, p.R990G, p.E1011Q (human)
DNA:missense mutation: :p.E1011Q (human)		 RGD PMID:12239240 PMID:19887834 PMID:20602573 PMID:22137721 RGD:7205445 RGD:7205502 RGD:7205666 RGD:7205675 NCBI chrNW_004624912:485,252...613,572
Ensembl chrNW_004624912:485,258...614,656 		JBrowse link
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: Hypercalciuria, childhood, self-limiting ClinVar PMID:14628289 NCBI chrNW_004624730:66,741,687...66,768,589
Ensembl chrNW_004624730:66,741,550...66,768,921 		JBrowse link
G LOC101716773 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chrNW_004624790:2,183,079...2,200,219
Ensembl chrNW_004624790:2,182,598...2,200,425 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1324751 PMID:3017235 NCBI chrNW_004624738:7,442,223...7,448,513
Ensembl chrNW_004624738:7,442,292...7,445,020 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:17164314 NCBI chrNW_004624766:5,489,857...5,492,777
Ensembl chrNW_004624766:5,489,800...5,492,871 		JBrowse link
G Slc34a1 solute carrier family 34 member 1