Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:hyperparathyroidism
go back to main search page
Accession:DOID:13543 term browser browse the term
Definition:A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body. (DO)
Synonyms:primary_id: MESH:D006961
 xref: EFO:0008506;   ICD10CM:E21.3;   ICD9CM:252.0;   NCI:C48259;   OMIM:PS145000;   ORDO:99879
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
hyperparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASR calcium sensing receptor ISO
ISS
EXP		 OMIM:145000 | OMIM:145001 | OMIM:610071
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD
RGD		 PMID:9011580 PMID:11589681 PMID:12671052 RGD:734698 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CCND1 cyclin D1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21541686 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G CDC73 cell division cycle 73 ISS
IAGP		 OMIM:145000 | OMIM:145001 | OMIM:610071
ClinVar Annotator: match by term: Hyperparathyroidism		 MouseDO
ClinVar		 PMID:20301744 PMID:25741868 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO RGD PMID:11416220 RGD:734871 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986 		JBrowse link
G MEN1 menin 1 IAGP
ISS		 DNA:SNPs: :multiple
ClinVar Annotator: match by term: Hyperparathyroidism
OMIM:145000 | OMIM:145001 | OMIM:610071		 ClinVar
MouseDO
RGD		 PMID:9103196 PMID:9215689 PMID:9215690 PMID:9354421 PMID:9407947 More... RGD:2317347 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor IEP mRNA:increased expression:parathyroid gland (human) RGD PMID:17047023 RGD:7207778 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951 		JBrowse link
G PTH1R parathyroid hormone 1 receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:11014383 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G TRPV6 transient receptor potential cation channel subfamily V member 6 IAGP ClinVar Annotator: match by term: Hyperparathyroidism ClinVar PMID:25741868 PMID:30144375 NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745 		JBrowse link
Familial Cystic Parathyroid Adenomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC73 cell division cycle 73 IAGP ClinVar Annotator: match by term: Cystic parathyroid adenoma ClinVar PMID:12434154 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815 		JBrowse link
Hyperparathyroidism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT2 beta-1,3-galactosyltransferase 2 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:25741868 PMID:28774260 NCBI chr 1:193,178,730...193,186,613
Ensembl chr 1:193,178,730...193,186,613 		JBrowse link
G CDC73 cell division cycle 73 IAGP
EXP		 ClinVar Annotator: match by term: Hyperparathyroidism 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 More... NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815 		JBrowse link
G GLRX2 glutaredoxin 2 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:193,096,465...193,106,114
Ensembl chr 1:193,090,866...193,106,114 		JBrowse link
G LINC01031 long intergenic non-protein coding RNA 1031 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:193,304,745...193,365,953
Ensembl chr 1:193,304,745...193,365,953 		JBrowse link
G LINC02770 long intergenic non-protein coding RNA 2770 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:191,732,686...192,011,260
Ensembl chr 1:191,823,432...192,011,260 		JBrowse link
G LOC111556116 HNF1 motif-containing MPRA enhancer 26 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:192,701,091...192,701,235 JBrowse link
G LOC120893169 MED14-independent group 3 enhancer GRCh37_chr1:193324401-193325600 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:193,355,219...193,356,470 JBrowse link
G LOC122149332 Sharpr-MPRA regulatory region 5305 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:192,153,219...192,153,513 JBrowse link
G LOC122149333 Sharpr-MPRA regulatory region 7925 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:193,105,203...193,105,592 JBrowse link
G LOC122149334 Sharpr-MPRA regulatory region 4625 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:193,115,679...193,115,973 JBrowse link
G LOC126805961 BRD4-independent group 4 enhancer GRCh37_chr1:192795712-192796911 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:192,826,582...192,827,781 JBrowse link
G LOC126805962 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:193583455-193584654 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:193,614,325...193,615,524 JBrowse link
G LOC129388703 MPRA-validated peak601 silencer IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:191,961,706...191,961,906 JBrowse link
G LOC129388704 MPRA-validated peak603 silencer IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:192,165,105...192,165,305 JBrowse link
G LOC129388705 MPRA-validated peak604 silencer IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:192,201,405...192,201,605 JBrowse link
G LOC129388706 MPRA-validated peak605 silencer IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:192,204,786...192,204,986 JBrowse link
G LOC129388707 MPRA-validated peak609 silencer IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:194,076,746...194,076,946 JBrowse link
G LOC129388708 MPRA-validated peak610 silencer IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:194,190,165...194,190,365 JBrowse link
G LOC129388709 MPRA-validated peak612 silencer IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:194,289,566...194,289,766 JBrowse link
G LOC129388710 MPRA-validated peak613 silencer IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:194,338,406...194,338,606 JBrowse link
G LOC129388711 MPRA-validated peak614 silencer IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:194,338,726...194,338,926 JBrowse link
G LOC129388712 MPRA-validated peak616 silencer IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:194,387,106...194,387,306 JBrowse link
G LOC129388713 MPRA-validated peak617 silencer IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:194,427,146...194,427,346 JBrowse link
G LOC129932134 ATAC-STARR-seq lymphoblastoid active region 2257 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260
G LOC129932135 ATAC-STARR-seq lymphoblastoid active region 2258 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260
G LOC129932136 ATAC-STARR-seq lymphoblastoid silent region 1651 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260
G LOC129932137 ATAC-STARR-seq lymphoblastoid active region 2259 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260
G LOC129932138 ATAC-STARR-seq lymphoblastoid active region 2260 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260
G LOC129932139 ATAC-STARR-seq lymphoblastoid active region 2261 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260
G LOC129932140 ATAC-STARR-seq lymphoblastoid active region 2262 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260
G LOC129932141 ATAC-STARR-seq lymphoblastoid active region 2263 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260
G LOC129932142 ATAC-STARR-seq lymphoblastoid silent region 1652 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260
G LOC129932143 ATAC-STARR-seq lymphoblastoid silent region 1653 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260
G LOC129932144 ATAC-STARR-seq lymphoblastoid active region 2264 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260
G LOC129932145 ATAC-STARR-seq lymphoblastoid silent region 1654 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260
G LOC129932146 ATAC-STARR-seq lymphoblastoid active region 2265 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260
G LOC129932147 ATAC-STARR-seq lymphoblastoid active region 2269 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260
G LOC129932148 ATAC-STARR-seq lymphoblastoid active region 2270 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260
G LOC129932149 ATAC-STARR-seq lymphoblastoid active region 2271 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260
G LOC129932150 ATAC-STARR-seq lymphoblastoid active region 2272 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260
G LOC129932151 ATAC-STARR-seq lymphoblastoid active region 2273 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260
G LOC132088601 Neanderthal introgressed variant-containing enhancer experimental_1434 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:193,846,721...193,846,890 JBrowse link
G LOC132088602 Neanderthal introgressed variant-containing enhancer experimental_1503 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:193,965,889...193,966,058 JBrowse link
G LOC132090670 Neanderthal introgressed variant-containing enhancer experimental_1475 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:193,907,779...193,907,948 JBrowse link
G MEN1 menin 1 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1
ClinVar Annotator: match by term: Familial isolated hyperparathyroidism		 ClinVar PMID:9536098 PMID:9683585 PMID:15254225 PMID:15292357 PMID:17576681 More... NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MIR1278 microRNA 1278 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:193,136,503...193,136,583
Ensembl chr 1:193,136,503...193,136,583 		JBrowse link
G MIR4426 microRNA 4426 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:192,716,328...192,716,390
Ensembl chr 1:192,716,328...192,716,390 		JBrowse link
G RGS1 regulator of G protein signaling 1 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:192,575,773...192,580,024
Ensembl chr 1:192,575,763...192,580,024 		JBrowse link
G RGS13 regulator of G protein signaling 13 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:192,636,147...192,660,311
Ensembl chr 1:192,636,138...192,660,311 		JBrowse link
G RGS18 regulator of G protein signaling 18 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:192,158,462...192,185,815
Ensembl chr 1:192,158,462...192,185,815 		JBrowse link
G RGS2 regulator of G protein signaling 2 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:192,809,039...192,812,275
Ensembl chr 1:192,809,039...192,812,275 		JBrowse link
G RGS2-AS1 RSG2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:192,935,744...192,948,257 JBrowse link
G RGS21 regulator of G protein signaling 21 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:192,316,992...192,367,285
Ensembl chr 1:192,316,992...192,367,285 		JBrowse link
G RO60 Ro60, Y RNA binding protein IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:193,059,612...193,091,777
Ensembl chr 1:193,059,454...193,091,777 		JBrowse link
G SCARNA18B small Cajal body-specific RNA 18B IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:193,057,281...193,057,415
Ensembl chr 1:193,057,281...193,057,415 		JBrowse link
G UCHL5 ubiquitin C-terminal hydrolase L5 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr 1:193,012,254...193,060,076
Ensembl chr 1:193,012,250...193,060,080 		JBrowse link
Hyperparathyroidism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT2 beta-1,3-galactosyltransferase 2 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors ClinVar PMID:25637381 NCBI chr 1:193,178,730...193,186,613
Ensembl chr 1:193,178,730...193,186,613 		JBrowse link
G CDC73 cell division cycle 73 IAGP
EXP		 ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 More... NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815 		JBrowse link
Hyperparathyroidism 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEN1 menin 1 IAGP ClinVar Annotator: match by term: Familial isolated hyperparathyroidism ClinVar PMID:17623761 PMID:25741868 PMID:28492532 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
Hyperparathyroidism 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCM2 glial cells missing transcription factor 2 IAGP
EXP		 ClinVar Annotator: match by term: Hyperparathyroidism 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15728199 PMID:15863676 PMID:18182452 PMID:21642377 PMID:25741868 More... NCBI chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041 		JBrowse link
Hyperparathyroidism, Neonatal Severe Primary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASR calcium sensing receptor IAGP
EXP		 ClinVar Annotator: match by term: Neonatal severe primary hyperparathyroidism
ClinVar Annotator: match by term: Neonatal severe hyperparathyroidism
ClinVar Annotator: match by term: Neonatal severe hyperparathyroidism | ClinVar Annotator: match by term: Neonatal severe primary hyperparathyroidism
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2211966 More... NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
primary hyperparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASR calcium sensing receptor IAGP ClinVar Annotator: match by term: Familial benign hypercalcemia ClinVar PMID:791660 PMID:1302026 PMID:1706284 PMID:7054696 PMID:7726161 More... NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:3328816 PMID:21289244 PMID:25741868 PMID:26762354 PMID:26989398 More... NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G MEN1 menin 1 IAGP ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:564891 PMID:9215689 PMID:18775714 PMID:22703879 PMID:24997771 More... NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MIR30E microRNA 30e susceptibility IAGP DNA:SNPs: (ss178077483, rs7556088) (human) RGD PMID:31280217 RGD:401827155 NCBI chr 1:40,754,355...40,754,446
Ensembl chr 1:40,754,355...40,754,446 		JBrowse link
G PTH parathyroid hormone IEP
IAGP		 protein:increased expression:serum (human)
ClinVar Annotator: match by term: Primary hyperparathyroidism		 ClinVar
RGD		 PMID:1425431 PMID:18784115 PMID:25741868 PMID:23447517 RGD:7242421 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		JBrowse link
G VDR vitamin D receptor susceptibility IAGP DNA:SNPs,haplotype: :(rs1544410),(rs7975232),(rs731236)(human) RGD PMID:9070272 RGD:13432057 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
renal osteodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTH parathyroid hormone IEP associated with Kidney Failure, Chronic; protein:decreased expression:serum (human) RGD PMID:18480316 RGD:7242687 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		JBrowse link
secondary hyperparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG2 ATP binding cassette subfamily G member 2 (JR blood group) treatment ISO RGD PMID:27988213 RGD:13450940 NCBI chr 4:88,090,264...88,231,626
Ensembl chr 4:88,090,150...88,231,628 		JBrowse link
G ACP5 acid phosphatase 5, tartrate resistant EXP CTD Direct Evidence: marker/mechanism CTD PMID:21985997 PMID:22373954 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G ALPL alkaline phosphatase, biomineralization associated EXP CTD Direct Evidence: marker/mechanism CTD PMID:22373954 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410 		JBrowse link
G CASR calcium sensing receptor severity IAGP
IEP		 associated with Kidney Failure, Chronic;DNA:missense mutations:cds:p.R990G, p.Q1011E (human)
protein:decreased expression:parathyroid gland (human)		 RGD PMID:19640368 PMID:11044218 RGD:7205505, RGD:7205664 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CRP C-reactive protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:21350317 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G ENG endoglin IEP associated with Renal Insufficiency, Chronic; protein:increased expression:parathyroid gland, vasculature (human) RGD PMID:18398016 RGD:7248778 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,815,013...127,854,658 		JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21350317 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G KL klotho ISO associated with Uremia;mRNA,protein:increased expression:parathyroid gland: RGD PMID:20631679 RGD:10403078 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
G PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 ISO associated with Kidney Failure, Chronic RGD PMID:19770516 RGD:8693427 NCBI chr19:9,835,318...9,849,689
Ensembl chr19:9,835,257...9,849,689 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO
IEP		 associated with Uremia
associated with kidney failure, chronic: protein:increased expression:parathyroid gland		 RGD PMID:21335517 PMID:21335517 RGD:5135046, RGD:5135046 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G PTH parathyroid hormone treatment ISO
EXP
IAGP
IEP
IDA		 associated with Uremia
CTD Direct Evidence: marker/mechanism
associated with Renal Insufficiency, Chronic; DNA:snp:exon:g.350C>A (rs6256) (human)
associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human)
associated with Kidney Failure, Chronic		 CTD
RGD		 PMID:21350317 PMID:22118402 PMID:22373954 PMID:21335517 PMID:12046039 More... RGD:5135046, RGD:7242750, RGD:7242728, RGD:7242414, RGD:7242411 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b treatment IEP associated with Kidney Failure, Chronic RGD PMID:22156488 RGD:7205487 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
G VDR vitamin D receptor treatment ISO associated with Kidney Failure, Chronic RGD PMID:8807569 RGD:8158085 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
Transient Neonatal Hyperparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPV6 transient receptor potential cation channel subfamily V member 6 IAGP ClinVar Annotator: match by term: Hyperparathyroidism, transient neonatal OMIM
ClinVar		 PMID:25741868 PMID:25741888 PMID:27296226 PMID:28492532 PMID:28878326 More... NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32346
      endocrine system disease 7705
        parathyroid gland disease 1350
          hyperparathyroidism 77
            Hyperparathyroidism 4 1
            Nephropathy, Deafness, and Hyperparathyroidism 0
            Transient Neonatal Hyperparathyroidism 1
            primary hyperparathyroidism + 61
            secondary hyperparathyroidism + 13
paths to the root