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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 chr15:41,957,826...42,002,776 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 chr15:40,911,504...40,944,128
Ensembl chr15:40,912,151...40,943,750 		JBrowse link
G COMMD2 COMM domain containing 2 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr15:40,952,432...40,966,802
Ensembl chr15:40,952,581...40,966,890 		JBrowse link
G CPA3 carboxypeptidase A3 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr15:41,807,728...41,839,889
Ensembl chr15:41,807,727...41,839,819 		JBrowse link
G CPB1 carboxypeptidase B1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr15:41,845,115...41,877,173
Ensembl chr15:41,845,115...41,877,377 		JBrowse link
G GYG1 glycogenin 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr15:41,678,619...41,715,311
Ensembl chr15:41,679,319...41,715,251 		JBrowse link
G HLTF helicase like transcription factor ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr15:41,621,349...41,676,185
Ensembl chr15:41,621,456...41,674,120 		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 chr15:41,537,122...41,581,994
Ensembl chr15:41,537,837...41,581,929 		JBrowse link
G RNF13 ring finger protein 13 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr15:40,729,723...40,893,345
Ensembl chr15:40,729,084...40,893,398 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20655381 NCBI chr10:75,076,286...75,097,742
Ensembl chr10:75,075,971...75,096,271 		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 chr15:41,330,866...41,340,366
Ensembl chr15:41,330,904...41,340,385 		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 chr15:41,379,182...41,392,384
Ensembl chr15:41,379,706...41,394,054 		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 chr15:41,206,933...41,237,333
Ensembl chr15:41,206,957...41,236,324 		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 chr15:41,051,827...41,193,266
Ensembl chr15:41,052,614...41,193,268 		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 chr20:9,194,611...9,241,102
Ensembl chr20:9,219,937...9,241,329 		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 chr22:9,849,439...9,869,654
Ensembl chr22:9,849,570...9,869,553 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chr10:47,676,799...47,732,310
Ensembl chr10:47,676,920...47,732,264 		JBrowse link
G KAT5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chr 1:8,528,097...8,544,512
Ensembl chr 1:8,526,788...8,544,972 		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 chr 6:11,493,752...11,501,167
Ensembl chr 6:11,493,764...11,501,363 		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 chr 3:28,791,490...28,856,542
Ensembl chr 3:28,791,748...28,841,733 		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 chr 1:8,526,761...8,535,984
Ensembl chr 1:8,526,788...8,528,027 		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 chr 2:57,641,634...57,699,685
Ensembl chr 2:57,639,046...57,699,525 		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 chr 2:57,629,205...57,640,736
Ensembl chr 2:57,627,764...57,640,177 		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 chr22:9,869,502...9,871,659 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 chr22:11,111,871...11,115,104
Ensembl chr22:11,112,953...11,114,467 		JBrowse link
G AMT aminomethyltransferase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,813,601...10,820,628
Ensembl chr22:10,814,358...10,819,632 		JBrowse link
G APEH acylaminoacyl-peptide hydrolase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:11,067,966...11,078,258 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
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 chr22:9,849,439...9,869,654
Ensembl chr22:9,849,570...9,869,553 		JBrowse link
G BSN bassoon presynaptic cytomatrix protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,953,901...11,066,892
Ensembl chr22:11,018,966...11,059,701 		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 chr22:11,264,349...11,276,616
Ensembl chr22:11,263,584...11,276,543 		JBrowse link
G CCDC71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532
G CDHR4 cadherin related family member 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532
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 chr22:10,046,361...10,073,689
Ensembl chr22:10,045,900...10,072,395 		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 chr22:10,579,771...10,594,148
Ensembl chr22:10,579,776...10,593,388 		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 chr22:9,964,652...9,996,785
Ensembl chr22:9,964,651...9,996,626 		JBrowse link
G CUNH3orf62 chromosome unknown C3orf62 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,660,873...10,672,712
Ensembl chr22:10,666,310...10,671,639 		JBrowse link
G DAG1 dystroglycan 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,864,058...10,934,179
Ensembl chr22:10,865,724...10,934,200 		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 chr22:10,415,833...10,419,492
Ensembl chr22:10,411,353...10,419,770 		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 chr 9:14,929,221...14,974,791
Ensembl chr 9:14,929,317...14,965,443 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:11,116,497...11,118,980
Ensembl chr22:11,116,752...11,118,926 		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 chr22:11,623,394...11,646,464
Ensembl chr22:11,623,408...11,647,191 		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 chr22:11,577,192...11,582,789
Ensembl chr22:11,577,997...11,581,223 		JBrowse link
G GPX1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,754,976...10,756,617 JBrowse link
G HYAL1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:11,689,123...11,693,144
Ensembl chr22:11,688,970...11,693,183 		JBrowse link
G HYAL3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:11,680,189...11,688,678
Ensembl chr22:11,679,585...11,682,972 		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 chr22:11,675,094...11,679,953
Ensembl chr22:11,675,542...11,679,843 		JBrowse link
G IHO1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,593,516...10,653,519 JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,424,646...10,429,917
Ensembl chr22:10,421,996...10,429,662 		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 chr22:11,206,066...11,208,653
Ensembl chr22:11,206,914...11,209,867 		JBrowse link
G IP6K1 inositol hexakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:11,119,315...11,187,512
Ensembl chr22:11,119,313...11,146,192 		JBrowse link
G IP6K2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,097,730...10,121,325
Ensembl chr22:10,097,746...10,121,840 		JBrowse link
G KLHDC8B kelch domain containing 8B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,573,720...10,578,629
Ensembl chr22:10,574,769...10,578,674 		JBrowse link
G LAMB2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,523,763...10,535,733
Ensembl chr22:10,523,717...10,536,207 		JBrowse link
G LOC103227611 ARIH2 opposite strand lncRNA ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,318,252...10,319,365 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 chr22:11,666,171...11,675,465 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 chr22:11,315,251...11,334,295
Ensembl chr22:11,315,396...11,333,991 		JBrowse link
G MST1 macrophage stimulating 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:11,078,662...11,083,885
Ensembl chr22:11,074,114...11,083,368 		JBrowse link
G MST1R macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:11,293,637...11,310,239
Ensembl chr22:11,293,263...11,309,980 		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
G NCKIPSD NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,083,042...10,095,654
Ensembl chr22:10,081,218...10,095,566 		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 chr22:10,421,359...10,423,626
Ensembl chr22:10,421,996...10,423,510 		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 chr22:10,821,663...10,825,405
Ensembl chr22:10,820,757...10,825,462 		JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,387,828...10,407,476
Ensembl chr22:10,388,932...10,407,507 		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 chr22:9,920,252...9,962,243
Ensembl chr22:9,919,764...9,957,543 		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 chr22:10,153,951...10,251,438
Ensembl chr22:10,150,378...10,251,397 		JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,497,921...10,507,673
Ensembl chr22:10,497,658...10,507,325 		JBrowse link
G QRICH1 glutamine rich 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,430,015...10,496,127
Ensembl chr22:10,430,774...10,478,690 		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 chr22:11,473,623...11,505,251
Ensembl chr22:11,473,494...11,507,096 		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 chr22:11,343,260...11,462,390
Ensembl chr22:11,343,214...11,461,504 		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 chr22:10,757,381...10,809,257
Ensembl chr22:10,757,337...10,772,704 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:25741868 NCBI chr 3:28,791,490...28,856,542
Ensembl chr 3:28,791,748...28,841,733 		JBrowse link
G RNF123 ring finger protein 123 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:11,084,216...11,116,527
Ensembl chr22:11,085,808...11,116,287 		JBrowse link
G SEMA3B semaphorin 3B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:11,652,766...11,664,902
Ensembl chr22:11,656,918...11,665,418 		JBrowse link
G SEMA3F semaphorin 3F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:11,540,958...11,574,888
Ensembl chr22:11,545,455...11,575,006 		JBrowse link
G SHISA5 shisa family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:9,871,882...9,905,733
Ensembl chr22:9,873,019...9,905,308 		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 chr22:10,261,772...10,300,878
Ensembl chr22:10,261,634...10,300,778 		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 chr22:10,035,676...10,046,274
Ensembl chr22:10,035,478...10,045,304 		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 chr22:11,591,680...11,606,291
Ensembl chr22:11,591,717...11,606,355 		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 chr22:10,809,342...10,813,655
Ensembl chr22:10,809,595...10,812,029 		JBrowse link
G TMEM89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,029,176...10,030,420
Ensembl chr22:10,029,181...10,030,078 		JBrowse link
G TRAIP TRAF interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:11,220,152...11,262,942
Ensembl chr22:11,233,996...11,262,830 		JBrowse link
G TREX1 three prime repair exonuclease 1 susceptibility 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 chr22:9,869,502...9,871,659 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 chr22:11,208,744...11,217,834
Ensembl chr22:11,207,417...11,217,734 		JBrowse link
G UCN2 urocortin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:9,962,339...9,964,553 JBrowse link
G UQCRC1 ubiquinol-cytochrome c reductase core protein I ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,000,432...10,012,524
Ensembl chr22:10,000,864...10,012,202 		JBrowse link
G USP19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,510,554...10,523,576
Ensembl chr22:10,510,423...10,523,487 		JBrowse link
G USP4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,672,920...10,735,374
Ensembl chr22:10,672,388...10,732,104 		JBrowse link
G WDR6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,407,421...10,416,295
Ensembl chr22:10,407,703...10,415,633 		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 chr 3:28,791,490...28,856,542
Ensembl chr 3:28,791,748...28,841,733 		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 chr 1:7,708,595...7,724,634
Ensembl chr 1:7,705,725...7,724,589 		JBrowse link
G ACY3 aminoacylase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 Ensembl chr 1:6,623,588...6,628,304 JBrowse link
G AIP aryl hydrocarbon receptor interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,774,648...6,783,095
Ensembl chr 1:6,773,364...6,783,318 		JBrowse link
G ALDH3B1 aldehyde dehydrogenase 3 family member B1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,507,668...6,533,630 JBrowse link
G ALDH3B2 aldehyde dehydrogenase 3 family member B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,594,240...6,607,230 JBrowse link
G ANKRD13D ankyrin repeat domain 13D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,960,539...6,972,456
Ensembl chr 1:6,960,389...6,971,727 		JBrowse link
G ANO1 anoctamin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:4,373,256...4,581,914
Ensembl chr 1:4,373,252...4,490,557 		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 chr 1:8,484,076...8,487,635
Ensembl chr 1:8,484,328...8,487,402 		JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,929,712...7,932,034
Ensembl chr 1:7,929,862...7,932,086 		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 chr 1:8,254,186...8,255,571
Ensembl chr 1:8,253,884...8,255,572 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,737,887...7,765,022
Ensembl chr 1:7,737,578...7,764,732 		JBrowse link
G BRMS1 BRMS1 transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,932,276...7,940,144
Ensembl chr 1:7,932,316...7,940,143 		JBrowse link
G CABP2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,741,202...6,744,931 JBrowse link
G CABP4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,804,761...6,810,277
Ensembl chr 1:6,805,193...6,808,456 		JBrowse link
G CAPN1 calpain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:9,014,087...9,050,389
Ensembl chr 1:9,014,084...9,049,804 		JBrowse link
G CARNS1 carnosine synthase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,838,960...6,849,542
Ensembl chr 1:6,839,950...6,847,124 		JBrowse link
G CATSPER1 cation channel sperm associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,231,436...8,241,189
Ensembl chr 1:8,231,915...8,241,048 		JBrowse link
G CCDC85B coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,366,166...8,367,670
Ensembl chr 1:8,366,409...8,367,017 		JBrowse link
G CCDC87 coiled-coil domain containing 87 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,686,514...7,689,390
Ensembl chr 1:7,686,575...7,689,061 		JBrowse link
G CCND1 cyclin D1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357 		JBrowse link
G CCS copper chaperone for superoxide dismutase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,670,137...7,686,389
Ensembl chr 1:7,667,873...7,686,428 		JBrowse link
G CD248 CD248 molecule ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,958,583...7,961,159
Ensembl chr 1:7,958,616...7,960,889 		JBrowse link
G CDC42EP2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,914,214...8,921,031
Ensembl chr 1:8,914,787...8,915,437 		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 chr 1:6,756,853...6,759,087
Ensembl chr 1:6,756,909...6,759,090 		JBrowse link
G CFL1 cofilin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:8,408,560...8,410,564 JBrowse link
G CHKA choline kinase alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,411,606...6,482,508 JBrowse link
G CLCF1 cardiotrophin like cytokine factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,890,751...6,900,370 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 chr 1:7,982,685...7,988,834
Ensembl chr 1:7,982,700...7,988,753 		JBrowse link
G CORO1B coronin 1B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,820,298...6,825,778
Ensembl chr 1:6,820,807...6,825,451 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:5,704,275...5,784,077
Ensembl chr 1:5,730,853...5,784,337 		JBrowse link
G CST6 cystatin E/M ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,244,483...8,246,551
Ensembl chr 1:8,244,485...8,245,968 		JBrowse link
G CTSF cathepsin F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,703,584...7,708,709
Ensembl chr 1:7,703,617...7,711,717 		JBrowse link
G CTSW cathepsin W ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,374,426...8,378,496
Ensembl chr 1:8,369,620...8,378,578 		JBrowse link
G CUNH11orf24 chromosome unknown C11orf24 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,261,118...6,272,953 JBrowse link
G CUNH11orf68 chromosome unknown C11orf68 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,338,524...8,340,838
Ensembl chr 1:8,338,593...8,340,841 		JBrowse link
G CUNH11orf86 chromosome unknown C11orf86 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,286,315...7,288,261
Ensembl chr 1:7,287,073...7,287,964 		JBrowse link
G DPF2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,888,534...8,908,446
Ensembl chr 1:8,886,710...8,908,522 		JBrowse link
G DPP3 dipeptidyl peptidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,766,110...7,797,152
Ensembl chr 1:7,766,160...7,795,302 		JBrowse link
G DRAP1 DR1 associated protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,336,085...8,338,393
Ensembl chr 1:8,335,949...8,338,446 		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 chr 1:8,384,212...8,391,501
Ensembl chr 1:8,385,020...8,390,889 		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 chr 1:8,648,318...8,664,990
Ensembl chr 1:8,648,641...8,664,759 		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 chr 1:8,255,904...8,259,278
Ensembl chr 1:8,255,378...8,259,104 		JBrowse link
G FADD Fas associated via death domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:4,358,314...4,361,863 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 chr 1:8,666,812...8,669,128
Ensembl chr 1:8,667,370...8,668,320 		JBrowse link
G FGF19 fibroblast growth factor 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:4,852,289...4,860,139
Ensembl chr 1:4,854,363...4,859,102 		JBrowse link
G FGF3 fibroblast growth factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:4,746,195...4,755,654
Ensembl chr 1:4,746,696...4,754,924 		JBrowse link
G FGF4 fibroblast growth factor 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:4,786,296...4,791,441
Ensembl chr 1:4,789,203...4,791,036 		JBrowse link
G FIBP FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,369,279...8,374,246 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 chr 1:8,356,263...8,365,606
Ensembl chr 1:8,356,836...8,364,918 		JBrowse link
G FRMD8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,824,966...8,853,292
Ensembl chr 1:8,827,122...8,852,792 		JBrowse link
G GAL galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:5,849,947...5,857,355
Ensembl chr 1:5,849,952...5,857,072 		JBrowse link
G GAL3ST3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,210,003...8,217,503
Ensembl chr 1:8,214,007...8,217,477 		JBrowse link
G GPR152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,810,791...6,814,497
Ensembl chr 1:6,811,146...6,812,555 		JBrowse link
G GRK2 G protein-coupled receptor kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,975,202...6,995,369
Ensembl chr 1:6,975,002...6,995,259 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,676,897...6,679,936 JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:5,619,138...5,655,033
Ensembl chr 1:5,619,425...5,655,737 		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 chr 1:8,528,097...8,544,512
Ensembl chr 1:8,526,788...8,544,972 		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 chr 1:8,644,038...8,648,132
Ensembl chr 1:8,645,231...8,647,963 		JBrowse link
G KDM2A lysine demethylase 2A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,004,109...7,152,072
Ensembl chr 1:7,003,784...7,082,720 		JBrowse link
G KLC2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,999,113...8,009,543 JBrowse link
G KMT5B lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,308,565...6,367,272
Ensembl chr 1:6,308,742...6,367,393 		JBrowse link
G LOC103221203 RNA-binding protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,604,440...7,638,536 JBrowse link
G LOC103221444 RNA-binding protein 4B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,594,565...7,607,824
Ensembl chr 1:7,594,677...7,604,199 		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 chr 1:7,406,502...7,409,707
Ensembl chr 1:7,402,779...7,409,959 		JBrowse link
G LRP5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,090,048...6,224,956
Ensembl chr 1:6,089,930...6,190,383 		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 chr 1:8,681,140...8,700,721
Ensembl chr 1:8,681,156...8,703,740 		JBrowse link
G LTO1 LTO1 maturation factor of ABCE1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:4,888,769...4,900,379
Ensembl chr 1:4,889,155...4,897,348 		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 chr 1:8,625,431...8,639,049
Ensembl chr 1:8,625,961...8,638,924 		JBrowse link
G MRGPRD MAS related GPR family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:5,591,179...5,593,796 JBrowse link
G MRGPRF MAS related GPR family member F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:5,559,186...5,569,839
Ensembl chr 1:5,563,977...5,568,959 		JBrowse link
G MRPL11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,844,554...7,847,201
Ensembl chr 1:7,844,474...7,847,476 		JBrowse link
G MRPL21 mitochondrial ribosomal protein L21 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:5,655,043...5,667,452
Ensembl chr 1:5,654,387...5,669,290 		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 chr 1:8,410,571...8,411,793 JBrowse link
G MYEOV myeloma overexpressed ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:5,268,229...5,269,105 JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,499,371...6,505,685
Ensembl chr 1:6,499,249...6,505,699 		JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,650,547...6,656,185
Ensembl chr 1:6,648,520...6,656,172 		JBrowse link
G NPAS4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,856,222...7,874,812
Ensembl chr 1:7,856,939...7,862,052 		JBrowse link
G NUDT8 nudix hydrolase 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,641,316...6,643,353 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 chr 1:8,470,065...8,480,406
Ensembl chr 1:8,470,029...8,478,626 		JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,023,496...8,188,192
Ensembl chr 1:8,022,906...8,188,171 		JBrowse link
G PC pyruvate carboxylase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,310,738...7,418,357
Ensembl chr 1:7,357,246...7,417,998 		JBrowse link
G PCNX3 pecanex 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:8,601,944...8,625,289
Ensembl chr 1:8,601,805...8,624,394 		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 chr 1:7,800,430...7,811,226
Ensembl chr 1:7,799,182...7,811,208 		JBrowse link
G PITPNM1 phosphatidylinositol transfer protein membrane associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,760,208...6,774,006
Ensembl chr 1:6,761,369...6,775,983 		JBrowse link
G POLA2 DNA polymerase alpha 2, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,940,102...8,977,049
Ensembl chr 1:8,938,769...8,976,771 		JBrowse link
G POLD4 DNA polymerase delta 4, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,910,044...6,912,134
Ensembl chr 1:6,910,159...6,911,813 		JBrowse link
G PPP1CA protein phosphatase 1 catalytic subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,862,536...6,866,212
Ensembl chr 1:6,862,540...6,865,855 		JBrowse link
G PPP6R3 protein phosphatase 6 regulatory subunit 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:5,920,097...6,073,847
Ensembl chr 1:5,919,226...6,074,037 		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 chr 1:6,825,821...6,828,305 JBrowse link
G RAB1B RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,989,521...7,998,371
Ensembl chr 1:7,989,101...7,998,105 		JBrowse link
G RAD9A RAD9 checkpoint clamp component A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,865,990...6,945,179
Ensembl chr 1:6,866,840...6,941,486 		JBrowse link
G RCE1 Ras converting CAAX endopeptidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,420,221...7,526,495
Ensembl chr 1:7,420,653...7,423,265 		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 chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516 		JBrowse link
G RHOD ras homolog family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,196,999...7,215,239 JBrowse link
G RIN1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,940,856...7,945,419
Ensembl chr 1:7,941,082...7,945,206 		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 chr 1:8,526,761...8,535,984
Ensembl chr 1:8,526,788...8,528,027 		JBrowse link
G RPS6KB2 ribosomal protein S6 kinase B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,828,413...6,836,176
Ensembl chr 1:6,828,682...6,836,143 		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 chr 1:8,279,821...8,296,282
Ensembl chr 1:8,275,123...8,296,245 		JBrowse link
G SCYL1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,700,828...8,714,571
Ensembl chr 1:8,700,973...8,714,763 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,189,636...8,207,024
Ensembl chr 1:8,189,446...8,207,020 		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 chr 1:8,588,221...8,601,310
Ensembl chr 1:8,586,685...8,598,455 		JBrowse link
G SLC25A45 solute carrier family 25 member 45 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,857,346...8,865,517
Ensembl chr 1:8,856,977...8,865,358 		JBrowse link
G SLC29A2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,904,813...7,914,344
Ensembl chr 1:7,905,297...7,917,309 		JBrowse link
G SNX32 sorting nexin 32 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:8,394,618...8,426,155 JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,543,035...7,588,125
Ensembl chr 1:7,556,953...7,590,720 		JBrowse link
G SSH3 slingshot protein phosphatase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,951,130...6,960,445
Ensembl chr 1:6,951,139...6,959,441 		JBrowse link
G SYT12 synaptotagmin 12 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,222,090...7,248,406
Ensembl chr 1:7,221,220...7,248,489 		JBrowse link
G TBC1D10C TBC1 domain family member 10C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,854,259...6,860,709
Ensembl chr 1:6,854,236...6,860,481 		JBrowse link
G TBX10 T-box transcription factor 10 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,623,195...6,640,000
Ensembl chr 1:6,623,588...6,628,304 		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 chr 1:6,484,469...6,497,008
Ensembl chr 1:6,484,474...6,494,719 		JBrowse link
G TESMIN testis expressed metallothionein like protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:5,788,231...5,834,900
Ensembl chr 1:5,789,096...5,834,873 		JBrowse link
G TIGD3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,883,893...8,886,685
Ensembl chr 1:8,884,276...8,885,691 		JBrowse link
G TMEM134 transmembrane protein 134 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,794,195...6,799,206
Ensembl chr 1:6,794,294...6,798,941 		JBrowse link
G TMEM151A transmembrane protein 151A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,970,012...7,974,954
Ensembl chr 1:7,971,134...7,974,764 		JBrowse link
G TOP6BL TOP6B like initiator of meiotic double strand breaks ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532
G TPCN2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:5,491,476...5,529,015
Ensembl chr 1:5,490,910...5,528,718 		JBrowse link
G TSGA10IP testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,297,479...8,314,162
Ensembl chr 1:8,298,065...8,313,905 		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 chr 1:6,537,198...6,549,457
Ensembl chr 1:6,537,273...6,549,450 		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 chr 1:7,977,690...7,982,313
Ensembl chr 1:7,977,867...7,984,211 		JBrowse link
G ZDHHC24 zinc finger DHHC-type containing 24 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,725,246...7,732,848 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 chr 1:8,669,227...8,670,594
Ensembl chr 1:8,666,769...8,670,527 		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 chr 6:11,438,981...11,447,952
Ensembl chr 6:11,441,380...11,448,629 		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 chr 6:11,883,353...12,307,023 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 chr 6:11,618,691...11,624,299
Ensembl chr 6:11,618,396...11,623,792 		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 chr 6:11,648,881...11,652,815
Ensembl chr 6:11,649,331...11,652,567 		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 chr 6:11,364,192...11,370,485
Ensembl chr 6:11,362,752...11,370,370 		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 chr 6:11,557,034...11,570,117
Ensembl chr 6:11,553,904...11,570,244 		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 chr 6:11,602,352...11,613,851
Ensembl chr 6:11,600,516...11,613,345 		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 chr 6:11,376,476...11,384,600
Ensembl chr 6:11,374,898...11,384,361 		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 chr 6:11,634,435...11,637,462
Ensembl chr 6:11,632,641...11,637,419 		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 chr 6:11,572,512...11,588,108
Ensembl chr 6:11,572,540...11,588,224 		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 chr 6:11,426,857...11,437,343
Ensembl chr 6:11,426,787...11,437,119 		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 chr 6:11,452,154...11,464,718
Ensembl chr 6:11,449,026...11,464,622 		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 chr 6:11,834,998...11,838,421
Ensembl chr 6:11,836,706...11,837,377 		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 chr 6:11,479,108...11,480,942
Ensembl chr 6:11,479,407...11,480,450 		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 chr 6:11,563,773...11,566,615
Ensembl chr 6:11,564,235...11,566,495 		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 chr 6:11,778,634...11,785,474
Ensembl chr 6:11,780,766...11,782,618 		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 chr 6:11,334,639...11,355,391
Ensembl chr 6:11,334,752...11,355,334 		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 chr 6:11,516,337...11,555,940
Ensembl chr 6:11,520,813...11,557,680 		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 chr 6:11,800,219...11,825,232
Ensembl chr 6:11,818,968...11,825,412 		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 chr 6:11,705,323...11,778,943
Ensembl chr 6:11,706,060...11,776,083 		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 chr 6:11,484,452...11,489,067
Ensembl chr 6:11,481,784...11,489,051 		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 chr 6:11,625,464...11,633,922
Ensembl chr 6:11,625,458...11,637,419 		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 chr 6:11,493,752...11,501,167
Ensembl chr 6:11,493,764...11,501,363 		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 chr 6:11,508,417...11,524,011 JBrowse link
G STX10 syntaxin 10 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,827,745...11,833,916 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 chr 6:11,581,915...11,599,770 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 chr 6:11,387,993...11,414,681
Ensembl chr 6:11,387,683...11,414,709 		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 chr 6:11,419,982...11,424,075
Ensembl chr 6:11,419,938...11,424,062 		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 chr 6:11,786,279...11,799,270
Ensembl chr 6:11,785,730...11,799,730 		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 chr 6:11,358,172...11,364,301
Ensembl chr 6:11,358,254...11,364,147 		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 chr 6:11,356,542...11,358,109
Ensembl chr 6:11,356,544...11,357,884 		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 chr 2:26,225,572...26,236,065
Ensembl chr 2:26,234,308...26,234,568 		JBrowse link
G CTNNBL1 catenin beta like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 2:25,877,750...26,055,283
Ensembl chr 2:25,877,700...26,055,209 		JBrowse link
G GHRH growth hormone releasing hormone ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 2:26,482,734...26,493,761
Ensembl chr 2:26,487,973...26,493,499 		JBrowse link
G LOC103246453 retinoblastoma-like protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 2:26,593,657...26,601,041 JBrowse link
G MANBAL mannosidase beta like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 2:26,434,145...26,461,769
Ensembl chr 2:26,434,986...26,449,818 		JBrowse link
G MROH8 maestro heat like repeat family member 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 2:26,563,075...26,587,815 JBrowse link
G NNAT neuronatin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 2:26,229,765...26,232,249
Ensembl chr 2:26,230,696...26,232,127 		JBrowse link
G RPN2 ribophorin II ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 2:26,503,344...26,563,958
Ensembl chr 2:26,503,597...26,564,142 		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 chr 2:57,641,634...57,699,685
Ensembl chr 2:57,639,046...57,699,525 		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 chr 2:26,344,480...26,367,448
Ensembl chr 2:26,343,450...26,367,776 		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 chr 2:57,629,205...57,640,736
Ensembl chr 2:57,627,764...57,640,177 		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 chr20:9,194,611...9,241,102
Ensembl chr20:9,219,937...9,241,329 		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 chr10:47,676,799...47,732,310
Ensembl chr10:47,676,920...47,732,264 		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 chr23:60,151,661...60,166,074
Ensembl chr23:60,152,784...60,164,483 		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 chr11:6,974,741...6,976,922
Ensembl chr11:6,974,953...6,976,921 		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 chr16:52,955,411...53,017,263
Ensembl chr16:52,955,714...53,016,909 		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 chr16:53,021,666...53,042,594
Ensembl chr16:53,023,963...53,042,493 		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 chr17:39,847,343...39,851,288
Ensembl chr17:39,847,759...39,851,127 		JBrowse link
G AGT angiotensinogen ISO RGD PMID:23291307 RGD:8549476 NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta treatment ISO associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945 NCBI chr 6:1,010,210...1,013,360
Ensembl chr 6:1,010,265...1,013,002 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO RGD PMID:15625282 RGD:13204716 NCBI chr13:41,670,416...41,755,549 JBrowse link
G GRP gastrin releasing peptide treatment ISO associated with chronic kidney disease RGD PMID:32192106 RGD:329961569 NCBI chr18:20,496,201...20,508,551
Ensembl chr18:20,496,516...20,507,153 		JBrowse link
G GSN gelsolin disease_progression ISO protein:decreased expression:blood (human) RGD PMID:26941566 RGD:329336117 NCBI chr12:18,253,079...18,317,285
Ensembl chr12:18,253,324...18,285,938 		JBrowse link
G SOD1 superoxide dismutase 1 ISO associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr 2:60,461,219...60,472,999 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 chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974 		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 chr 5:27,778,553...27,782,639
Ensembl chr 5:27,776,416...27,782,640 		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 chr12:3,301,643...3,507,300
Ensembl chr12:3,301,175...3,459,607 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO mRNA:increased expression:aorta (rat) RGD PMID:22659116 RGD:12914785 NCBI chr13:41,670,416...41,755,549 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 chr 2:1,756,911...1,769,452
Ensembl chr 2:1,757,420...1,768,143 		JBrowse link
G IL6 interleukin 6 severity ISO RGD PMID:23969418 RGD:12792206 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		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 chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585 		JBrowse link
G SMAD6 SMAD family member 6 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:28492532 PMID:30796334 NCBI chr26:16,760,117...16,841,286
Ensembl chr26:16,759,260...16,840,240 		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 chr21:23,166,020...23,222,416
Ensembl chr21:23,166,109...23,224,657 		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 chr 5:15,169,725...15,243,731
Ensembl chr 5:15,168,156...15,242,811 		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 chr13:41,670,416...41,755,549 JBrowse link
autosomal dominant hypocalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMELX amelogenin X-linked ISO RGD PMID:15721149 RGD:1599092 NCBI chr  X:9,927,740...9,934,104
Ensembl chr  X:9,741,594...9,745,776
Ensembl chr  X:9,741,594...9,745,776 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO RGD PMID:2106357 RGD:6483581 NCBI chr20:7,623,716...7,626,353
Ensembl chr20:7,623,883...7,624,812 		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 chr22:58,579,640...58,612,142
Ensembl chr22:58,578,396...58,604,756 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO RGD PMID:11416220 RGD:734871 NCBI chr11:53,675,704...53,681,372
Ensembl chr11:53,675,226...53,680,443 		JBrowse link
G PTH parathyroid hormone ISO protein:increased expression:serum (rat) RGD PMID:22581996 RGD:7242904 NCBI chr 1:51,327,555...51,330,810 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 chr22:58,579,640...58,612,142
Ensembl chr22:58,578,396...58,604,756 		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 chr 6:2,858,880...2,887,694
Ensembl chr 6:2,858,937...2,887,704 		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 chr22:58,579,640...58,612,142
Ensembl chr22:58,578,396...58,604,756 		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 chr11:4,398,318...4,408,415
Ensembl chr11:4,398,675...4,407,209 		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 chr  X:20,507,619...20,733,367
Ensembl chr  X:20,522,498...20,734,599 		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 chr 7:36,032,320...36,046,621
Ensembl chr 7:36,039,432...36,046,278 		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 chr13:41,670,416...41,755,549 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 chr12:46,235,327...46,243,153
Ensembl chr12:46,240,208...46,242,352 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr23:52,724,061...52,766,264
Ensembl chr23:52,724,005...52,766,234 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 ISO OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr 8:40,413,070...40,535,002
Ensembl chr 8:40,412,958...40,469,896 		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 chr24:82,704,087...82,730,711
Ensembl chr24:82,704,068...82,727,698 		JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:24374105 RGD:11352276 NCBI chr  X:111,655,301...111,667,602
Ensembl chr  X:111,655,397...111,666,639 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 ameliorates ISO RGD PMID:22699504 RGD:155641244 NCBI chr26:42,056,473...42,066,283
Ensembl chr26:42,056,331...42,065,828 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 severity ISO RGD PMID:15120829 RGD:12910476 NCBI chr10:83,003,266...83,017,397
Ensembl chr10:83,003,717...83,017,363 		JBrowse link
G MEIS2 Meis homeobox 2 ISO mRNA,protein:decreased expression:aortic valve: RGD PMID:30594396 RGD:155598679 NCBI chr26:45,844,214...46,054,325 JBrowse link
G NOTCH1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16025100 NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585 		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 chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429 		JBrowse link
G PTH parathyroid hormone disease_progression ISO protein:increased expression:serum (rat) RGD PMID:22634235 RGD:7242900 NCBI chr 1:51,327,555...51,330,810 JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 ISO protein:increased expression:aortic valve (human) RGD PMID:35958694 RGD:401976381 NCBI chr 2:13,385,681...13,459,180
Ensembl chr 2:13,387,727...13,459,105 		JBrowse link
G SLC20A1 solute carrier family 20 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chr14:15,657,888...15,676,649
Ensembl chr14:15,659,361...15,676,645 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		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 chr15:2,809,234...2,818,382
Ensembl chr15:2,809,028...2,817,514 		JBrowse link
G ALPL alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:21193197 NCBI chr20:111,055,583...111,124,143
Ensembl chr20:111,055,558...111,081,850 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO associated with hypertension;protein:undercarboxylated:serum
protein:increased expression:dermis:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:18422975 PMID:20197689 PMID:21335463 RGD:6483566 RGD:9068449 NCBI chr20:7,623,716...7,626,353
Ensembl chr20:7,623,883...7,624,812 		JBrowse link
G BMP2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30963258 PMID:31843813 NCBI chr 2:31,349,394...31,361,227
Ensembl chr 2:31,348,808...31,360,901 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225 		JBrowse link
G C6 complement C6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 4:39,912,385...40,033,338
Ensembl chr 4:39,912,155...39,983,634 		JBrowse link
G CASP3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 7:130,589,592...130,610,845
Ensembl chr 7:130,591,166...130,610,899 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21193197 PMID:21335463 NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416 		JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 2:89,129,674...89,186,490 JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930 		JBrowse link
G CTC1 CST telomere replication complex component 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22267198 NCBI chr16:7,594,493...7,618,202
Ensembl chr16:7,594,219...7,615,754 		JBrowse link
G CTNNB1 catenin beta 1 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949 		JBrowse link
G DMD dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18340010 NCBI chr  X:29,543,003...32,218,011 JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12148126 NCBI chr28:12,487,222...12,491,986
Ensembl chr28:12,489,766...12,491,908 		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 chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952 		JBrowse link
G FCGR1A Fc fragment of IgG receptor Ia ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463
G FGF23 fibroblast growth factor 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr11:4,398,318...4,408,415
Ensembl chr11:4,398,675...4,407,209 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr10:51,237,150...51,284,301
Ensembl chr10:51,236,756...51,259,062 		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 chr22:10,754,976...10,756,617 JBrowse link
G IL18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G ITGB1 integrin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18340010 NCBI chr 9:32,201,030...32,258,247
Ensembl chr 9:32,202,204...32,258,154 		JBrowse link
G ITGB2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 2:88,597,554...88,644,890
Ensembl chr 2:88,597,556...88,624,025 		JBrowse link
G JAK2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710 		JBrowse link
G KL klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr 3:11,755,015...11,799,537
Ensembl chr 3:11,755,016...11,797,596 		JBrowse link
G LCN2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr12:9,976,278...9,981,087
Ensembl chr12:9,976,614...9,980,870 		JBrowse link
G LOC103242760 C-C motif chemokine 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr16:29,473,639...29,477,861
Ensembl chr16:29,452,308...29,458,007
Ensembl chr16:29,452,308...29,458,007
Ensembl chr16:29,452,308...29,458,007 		JBrowse link
G LSP1 lymphocyte specific protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 1:1,672,916...1,713,160
Ensembl chr 1:1,672,695...1,715,502 		JBrowse link
G LY86 lymphocyte antigen 86 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr17:65,544,971...65,610,775
Ensembl chr17:65,547,690...65,610,639 		JBrowse link
G MGP matrix Gla protein ISO RGD PMID:15045141 RGD:1582501 NCBI chr11:14,776,668...14,780,796
Ensembl chr11:14,776,209...14,780,947 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15545515 PMID:21193197 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15545515 PMID:21193197 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G NOTCH1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22110751 NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585 		JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30963258 NCBI chr22:61,005,404...61,043,016
Ensembl chr22:61,006,667...61,040,832 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr19:21,865,792...21,888,068
Ensembl chr19:21,863,768...21,886,395 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr23:52,724,061...52,766,264
Ensembl chr23:52,724,005...52,766,234 		JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6143199 NCBI chr14:82,491,296...82,499,289
Ensembl chr14:82,494,323...82,499,447 		JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr11:6,977,480...6,994,525
Ensembl chr11:6,984,710...6,994,545 		JBrowse link
G PYCARD PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 5:27,892,332...27,894,386
Ensembl chr 5:27,889,230...27,893,697 		JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr24:1,318,265...1,322,610
Ensembl chr24:1,318,216...1,322,462 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr 8:40,413,070...40,535,002
Ensembl chr 8:40,412,958...40,469,896 		JBrowse link
G SLC22A6 solute carrier family 22 member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12803500 NCBI chr 1:10,918,081...10,926,790
Ensembl chr 1:10,918,770...10,925,983 		JBrowse link
G SNAI2 snail family transcriptional repressor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr 8:45,043,381...45,047,054
Ensembl chr 8:45,043,393...45,046,978 		JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr23:54,224,003...54,248,869
Ensembl chr23:54,222,838...54,238,006 		JBrowse link
G SPN sialophorin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 5:26,987,810...26,990,214 JBrowse link
G SPP1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:dermis:		 CTD
RGD		 PMID:18390899 PMID:18422975 PMID:21193197 PMID:21335463 RGD:6903869 RGD:9068449 NCBI chr 7:36,337,165...36,344,927
Ensembl chr 7:36,338,386...36,344,407 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24142982 NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24142982 NCBI chr16:70,819,591...70,850,471
Ensembl chr16:70,819,139...70,850,471 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30963258
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		JBrowse link
G XPR1 xenotropic and polytropic retrovirus receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr25:48,509,854...48,756,479
Ensembl chr25:48,517,525...48,756,458 		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 chr16:7,594,493...7,618,202
Ensembl chr16:7,594,219...7,615,754 		JBrowse link
G STN1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:96,919,584...96,967,941
Ensembl chr 9:96,915,951...96,967,394 		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 chr16:7,594,493...7,618,202
Ensembl chr16:7,594,219...7,615,754 		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 chr16:7,618,952...7,639,700
Ensembl chr16:7,623,817...7,638,594 		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 chr 9:96,919,584...96,967,941
Ensembl chr 9:96,915,951...96,967,394 		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 chr21:93,572,139...93,688,374
Ensembl chr21:93,571,272...93,655,869 		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 chr13:41,670,416...41,755,549 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 chr17:58,859,456...59,440,969
Ensembl chr17:58,862,828...59,133,298 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b severity ISO associated with Kidney Failure, Chronic RGD PMID:22943310 RGD:7205482 NCBI chr 8:113,520,711...113,549,370
Ensembl chr 8:113,520,596...113,548,936 		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 chr 7:1,393,336...1,464,189
Ensembl chr 7:1,393,348...1,467,989 		JBrowse link
G FBN1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217 		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 chr17:27,934,537...27,949,120
Ensembl chr17:27,931,945...27,949,006 		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 chr22:57,427,711...57,589,440 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 chr22:58,579,640...58,612,142
Ensembl chr22:58,578,396...58,604,756 		JBrowse link
G CCDC14 coiled-coil domain containing 14 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:56,889,424...56,939,915 JBrowse link
G CD86 CD86 molecule ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:58,741,534...58,805,417
Ensembl chr22:58,741,525...58,805,366 		JBrowse link
G CSTA cystatin A ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:11807402 PMID:20798521 PMID:28492532 NCBI chr22:58,519,085...58,536,163
Ensembl chr22:58,519,085...58,536,339 		JBrowse link
G DTX3L deltex E3 ubiquitin ligase 3L ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:58,287,331...58,298,519
Ensembl chr22:58,290,764...58,298,376 		JBrowse link
G EAF2 ELL associated factor 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:58,966,640...59,025,158
Ensembl chr22:58,974,409...59,025,143 		JBrowse link
G FAM162A family with sequence similarity 162 member A ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:58,451,115...58,476,960
Ensembl chr22:58,449,189...58,476,959 		JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr12:43,157,323...43,171,546
Ensembl chr12:43,156,840...43,171,532 		JBrowse link
G HACD2 3-hydroxyacyl-CoA dehydratase 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:57,285,948...57,379,894
Ensembl chr22:57,322,657...57,381,683 		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 chr22:55,782,039...55,874,679
Ensembl chr22:55,809,901...55,871,402 		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 chr  X:109,629,674...109,671,409 JBrowse link
G HSPBAP1 HSPB1 associated protein 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:58,081,374...58,131,789
Ensembl chr22:58,081,832...58,132,236 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:58,833,754...58,870,547
Ensembl chr22:58,834,293...58,870,303 		JBrowse link
G IQCB1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:59,025,265...59,097,930
Ensembl chr22:59,025,261...59,098,138 		JBrowse link
G ITGB5 integrin subunit beta 5 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:55,944,810...56,070,605
Ensembl chr22:55,944,865...56,069,930 		JBrowse link
G KALRN kalirin RhoGEF kinase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:56,106,677...56,820,004
Ensembl chr22:56,151,819...56,754,538 		JBrowse link
G KPNA1 karyopherin subunit alpha 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:58,346,008...58,437,737
Ensembl chr22:58,346,009...58,439,143 		JBrowse link
G LOC103228163 ropporin-1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:56,858,260...56,882,208 JBrowse link
G MIX23 mitochondrial matrix import factor 23 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:58,477,053...58,501,342
Ensembl chr22:58,489,161...58,502,366 		JBrowse link
G MUC13 mucin 13, cell surface associated ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:55,898,876...55,930,379
Ensembl chr22:55,899,901...55,930,454 		JBrowse link
G MYLK myosin light chain kinase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:57,032,264...57,259,253
Ensembl chr22:57,065,331...57,257,464 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:19390221 PMID:21031565 PMID:22381590 PMID:23047739 PMID:25326635 More... NCBI chr  X:104,784,900...104,834,718
Ensembl chr  X:104,785,526...104,837,243 		JBrowse link
G OSBPL11 oxysterol binding protein like 11 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:55,228,864...55,302,285
Ensembl chr22:55,228,900...55,302,892 		JBrowse link
G PARP14 poly(ADP-ribose) polymerase family member 14 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:58,135,092...58,185,988
Ensembl chr22:58,134,973...58,185,521 		JBrowse link
G PARP15 poly(ADP-ribose) polymerase family member 15 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:58,230,913...58,285,119
Ensembl chr22:58,231,542...58,264,046 		JBrowse link
G PARP9 poly(ADP-ribose) polymerase family member 9 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:58,297,526...58,336,243
Ensembl chr22:58,298,046...58,337,124 		JBrowse link
G PDIA5 protein disulfide isomerase family A member 5 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:57,711,049...57,806,058
Ensembl chr22:57,711,041...57,806,037 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:95,452,481...95,475,933 JBrowse link
G SEC22A SEC22 homolog A, vesicle trafficking protein ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:57,597,146...57,666,370
Ensembl chr22:57,597,880...57,669,151 		JBrowse link
G SEMA5B semaphorin 5B ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:57,915,118...57,968,900
Ensembl chr22:57,915,344...57,967,793 		JBrowse link
G SLC12A8 solute carrier family 12 member 8 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:55,623,961...55,754,969
Ensembl chr22:55,646,406...55,754,209 		JBrowse link
G SLC15A2 solute carrier family 15 member 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:58,916,389...58,966,725
Ensembl chr22:58,913,676...58,966,906 		JBrowse link
G SLC49A4 solute carrier family 49 member 4 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:57,998,168...58,080,900
Ensembl chr22:57,998,708...58,081,270 		JBrowse link
G SNX4 sorting nexin 4 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:55,311,896...55,389,174
Ensembl chr22:55,311,933...55,389,349 		JBrowse link
G UMPS uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:56,081,897...56,097,164
Ensembl chr22:56,082,103...56,097,105 		JBrowse link
G WDR5B WD repeat domain 5B ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:58,444,586...58,446,316
Ensembl chr22:58,445,149...58,446,141 		JBrowse link
G ZNF148 zinc finger protein 148 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr22:55,467,453...55,609,050 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 chr22:58,579,640...58,612,142
Ensembl chr22:58,578,396...58,604,756 		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 chr 6:2,858,880...2,887,694
Ensembl chr 6:2,858,937...2,887,704 		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 chr 6:40,175,106...40,194,936 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 chr  X:46,772,176...46,934,886
Ensembl chr  X:46,772,305...46,927,861 		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 chr  X:20,507,619...20,733,367
Ensembl chr  X:20,522,498...20,734,599 		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 chr 9:13,309,059...13,331,606
Ensembl chr 9:13,308,951...13,331,504 		JBrowse link
G VDR vitamin D receptor ISO 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 chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684 		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 chr13:41,613,838...41,617,010
Ensembl chr13:41,613,798...41,617,651 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar
OMIM		 PMID:8960499 PMID:9536098 PMID:9662402 PMID:10453738 PMID:10480624 More... NCBI chr13:41,670,416...41,755,549 JBrowse link
G ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar NCBI chr13:41,818,559...41,926,901
Ensembl chr13:41,818,874...41,918,259 		JBrowse link
G ZNF292 zinc finger protein 292 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 ClinVar PMID:25741868 NCBI chr13:11,648,871...11,760,029
Ensembl chr13:11,651,537...11,762,656 		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 chr 5:15,169,725...15,243,731
Ensembl chr 5:15,168,156...15,242,811 		JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: GRACILE syndrome OMIM
ClinVar		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr10:104,563,912...104,567,706
Ensembl chr10:104,565,184...104,568,099 		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 chr25:4,326,872...4,353,208
Ensembl chr25:4,330,849...4,351,401 		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 ISO ClinVar Annotator: match by term: HMOX1-related condition | ClinVar Annotator: match by term: Heme oxygenase 1 deficiency ClinVar
OMIM		 PMID:9884342 PMID:16199547 PMID:21088618 PMID:22023467 PMID:25741868 More... NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971 		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 chr21:106,705,197...106,822,194
Ensembl chr21:106,780,339...106,822,696 		JBrowse link
G ALAD aminolevulinate dehydratase treatment ISO RGD PMID:3679087 RGD:12904688 NCBI chr12:26,173,063...26,185,456
Ensembl chr12:26,173,096...26,189,845 		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 chr  X:51,086,062...51,108,564
Ensembl chr  X:51,086,066...51,103,505 		JBrowse link
G B2M beta-2-microglobulin ISO OMIM:231100 MouseDO NCBI chr26:38,331,818...38,338,785
Ensembl chr26:38,331,442...38,338,809 		JBrowse link
G BMP2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:31,349,394...31,361,227
Ensembl chr 2:31,348,808...31,360,901 		JBrowse link
G BMP6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19252486 PMID:19252488 NCBI chr17:64,279,243...64,436,356
Ensembl chr17:64,280,609...64,435,382 		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 chr 6:30,214,820...30,218,100
Ensembl chr 6:30,215,563...30,217,996 		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 chr17:46,159,770...46,168,831
Ensembl chr17:46,156,685...46,164,649 		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 chr20:12,730,106...12,735,230
Ensembl chr20:12,730,912...12,735,255 		JBrowse link
G HMOX1 heme oxygenase 1 ISO OMIM:231100 MouseDO NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971 		JBrowse link
G SLC11A2 solute carrier family 11 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11439223 NCBI chr11:47,190,138...47,238,543
Ensembl chr11:47,197,168...47,235,130 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Hereditary hemochromatosis ClinVar PMID:25741868 NCBI chr10:75,076,286...75,097,742
Ensembl chr10:75,075,971...75,096,271 		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 chr28:12,570,604...12,592,269
Ensembl chr28:12,571,841...12,592,266 		JBrowse link
G TNF tumor necrosis factor ISO DNA:SNP:promoter:-238G>A (rs361525) (human)
DNA:SNP:promoter:-308G>A (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:11389006 PMID:16793930 RGD:12904050 RGD:12904656
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 chr 2:31,349,394...31,361,227
Ensembl chr 2:31,348,808...31,360,901 		JBrowse link
G HAMP hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:12915468 PMID:19214511 PMID:28492532 NCBI chr 6:30,214,820...30,218,100
Ensembl chr 6:30,215,563...30,217,996 		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 chr17:46,159,770...46,168,831
Ensembl chr17:46,156,685...46,164,649 		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 chr20:12,730,106...12,735,230
Ensembl chr20:12,730,912...12,735,255 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:28492532 NCBI chr10:75,076,286...75,097,742
Ensembl chr10:75,075,971...75,096,271 		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 chr28:12,570,604...12,592,269
Ensembl chr28:12,571,841...12,592,266 		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 chr 6:30,214,820...30,218,100
Ensembl chr 6:30,215,563...30,217,996 		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 chr17:46,159,770...46,168,831
Ensembl chr17:46,156,685...46,164,649 		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 chr20:12,730,106...12,735,230
Ensembl chr20:12,730,912...12,735,255 		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 chr20:12,786,058...12,789,260
Ensembl chr20:12,786,933...12,788,423 		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 chr 6:30,214,820...30,218,100
Ensembl chr 6:30,215,563...30,217,996 		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 chr20:12,730,106...12,735,230
Ensembl chr20:12,730,912...12,735,255 		JBrowse link
G POLR3GL RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr20:12,773,971...12,784,023 JBrowse link
G TXNIP thioredoxin interacting protein ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr20:12,756,145...12,759,853
Ensembl chr20:12,756,053...12,761,177 		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 chr 6:30,214,820...30,218,100
Ensembl chr 6:30,215,563...30,217,996 		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 chr28:12,570,604...12,592,269
Ensembl chr28:12,571,841...12,592,266 		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 chr10:75,076,286...75,097,742
Ensembl chr10:75,075,971...75,096,271 		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 chr 1:11,841,052...11,857,694
Ensembl chr 1:11,837,837...11,857,233 		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 chr 1:11,837,533...11,840,926 JBrowse link
G TFR2 transferrin receptor 2 ISO ClinVar Annotator: match by term: Hereditary hemochromatosis type 5 ClinVar PMID:28492532 NCBI chr28:12,570,604...12,592,269
Ensembl chr28:12,571,841...12,592,266 		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 chr 1:125,136,963...125,211,424 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 chr13:10,115,591...10,162,178
Ensembl chr13:10,116,161...10,160,414 		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 chr 8:113,520,711...113,549,370
Ensembl chr 8:113,520,596...113,548,936 		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 chr 1:51,327,555...51,330,810 JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO DNA:deletions, snps:multiple (human)
OMIM:241530		 RGD
MouseDO		 PMID:16358215 PMID:19570882 RGD:7242924 RGD:7242925 NCBI chr23:79,395,923...79,410,835
Ensembl chr23:79,396,250...79,411,695 		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 chr12:952,486...958,602
Ensembl chr12:952,278...957,308 		JBrowse link
hypercalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALCR calcitonin receptor ISO CTD Direct Evidence: therapeutic CTD PMID:18627265 NCBI chr21:55,433,438...55,585,608
Ensembl chr21:55,523,412...55,583,735 		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 chr22:58,579,640...58,612,142
Ensembl chr22:58,578,396...58,604,756 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr 2:9,868,794...9,889,510
Ensembl chr 2:9,868,678...9,885,884 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20427501 NCBI chr11:53,675,704...53,681,372
Ensembl chr11:53,675,226...53,680,443 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10638776 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		JBrowse link
G KL klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr 3:11,755,015...11,799,537
Ensembl chr 3:11,755,016...11,797,596 		JBrowse link
G LOC103239768 calcitonin ISO CTD Direct Evidence: therapeutic CTD PMID:1115441 PMID:12637657 NCBI chr 1:49,946,574...49,956,010
Ensembl chr 1:49,951,694...49,954,092 		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 chr 1:51,327,555...51,330,810 JBrowse link
G PTH1R parathyroid hormone 1 receptor ISO protein:increased expression:odontoblast; associated with neoplasms RGD PMID:16036863 RGD:1599980 NCBI chr22:8,287,877...8,309,736
Ensembl chr22:8,289,398...8,311,256 		JBrowse link
G PTHLH parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:3616618 PMID:10638776 PMID:11054717 PMID:12358896 NCBI chr11:27,682,300...27,694,808
Ensembl chr11:27,682,338...27,694,898 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9560283 NCBI chr23:79,395,923...79,410,835
Ensembl chr23:79,396,250...79,411,695 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10638776
G TNFRSF11B TNF receptor superfamily member 11b ISO CTD Direct Evidence: therapeutic CTD PMID:15845617 NCBI chr 8:113,520,711...113,549,370
Ensembl chr 8:113,520,596...113,548,936 		JBrowse link
G TNFSF11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15845617 NCBI chr 3:20,717,884...20,761,520
Ensembl chr 3:20,727,592...20,760,408 		JBrowse link
Hypercalcemia, Infantile, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 ISO ClinVar Annotator: match by term: Hypercalcemia, infantile, 1 OMIM
ClinVar		 PMID:3490596 PMID:19961857 PMID:21675912 PMID:22047571 PMID:22100522 More... NCBI chr 2:9,868,794...9,889,510
Ensembl chr 2:9,868,678...9,885,884 		JBrowse link
G KL klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:20394945 NCBI chr 3:11,755,015...11,799,537
Ensembl chr 3:11,755,016...11,797,596 		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 chr23:79,395,923...79,410,835
Ensembl chr23:79,396,250...79,411,695 		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 chr22:58,579,640...58,612,142
Ensembl chr22:58,578,396...58,604,756 		JBrowse link
G CLDN16 claudin 16 ISO ClinVar Annotator: match by term: Hypercalciuria, childhood, self-limiting ClinVar PMID:14628289 NCBI chr15:84,529,660...84,619,707
Ensembl chr15:84,593,857...84,619,660 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr 2:9,868,794...9,889,510
Ensembl chr 2:9,868,678...9,885,884 		JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1324751 PMID:3017235 NCBI chr14:82,491,296...82,499,289
Ensembl chr14:82,494,323...82,499,447 		JBrowse link
G PTH parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:17164314 NCBI chr 1:51,327,555...51,330,810 JBrowse link
G SLC34A1 solute carrie