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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:parathyroid gland disease
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Accession:DOID:11201 term browser browse the term
Definition:Pathological processes of the PARATHYROID GLANDS. They usually manifest as hypersecretion or hyposecretion of PARATHYROID HORMONE that regulates the balance of CALCIUM; PHOSPHORUS; and MAGNESIUM in the body.
Synonyms:exact_synonym: Parathyroid Disease;   Parathyroid Diseases;   Parathyroid Disorder;   Parathyroid Disorders;   disease of parathyroid glands
 primary_id: MESH:D010279;   RDO:0005848
 xref: ICD10CM:E21.5;   ICD9CM:252.9;   NCI:C26844
For additional species annotation, visit the Alliance of Genome Resources.


GViewer not supported for chinchilla.
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22q11 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12223415 NCBI chrNW_004955485:8,517,412...8,521,732
Ensembl chrNW_004955485:8,517,412...8,521,770
JBrowse link
G Six1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chrNW_004955466:8,961,597...8,966,069
Ensembl chrNW_004955466:8,961,597...8,966,069
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 ISO OMIM NCBI chrNW_004955427:21,486,608...21,574,017
Ensembl chrNW_004955427:21,486,427...21,575,210
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome
CTD
ClinVar
PMID:11152759, PMID:12107202, PMID:12191970, PMID:12241879, PMID:15005845, PMID:17048213, PMID:25741868 NCBI chrNW_004955427:21,486,608...21,574,017
Ensembl chrNW_004955427:21,486,427...21,575,210
JBrowse link
chromosome 22q11.2 deletion syndrome, distal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chrNW_004955442:17,474,743...17,482,389 JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chrNW_004955442:17,284,232...17,380,026
Ensembl chrNW_004955442:17,284,232...17,380,020
JBrowse link
G Ppil2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chrNW_004955442:17,426,154...17,449,079
Ensembl chrNW_004955442:17,425,231...17,449,832
JBrowse link
G Ppm1f protein phosphatase, Mg2+/Mn2+ dependent 1F ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chrNW_004955442:17,233,258...17,256,009
Ensembl chrNW_004955442:17,227,723...17,252,383
JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chrNW_004955455:6,921,420...6,930,453
Ensembl chrNW_004955455:6,921,052...6,930,537
JBrowse link
G Sdf2l1 stromal cell derived factor 2 like 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chrNW_004955442:17,468,302...17,470,296
Ensembl chrNW_004955442:17,468,302...17,470,296
JBrowse link
G Tmem191c transmembrane protein 191C ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chrNW_004955442:17,145,361...17,149,050 JBrowse link
G Top3b DNA topoisomerase III beta ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chrNW_004955442:17,201,079...17,223,824
Ensembl chrNW_004955442:17,200,453...17,225,335
JBrowse link
G Ube2l3 ubiquitin conjugating enzyme E2 L3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chrNW_004955442:17,487,815...17,581,675 JBrowse link
G Ydjc YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chrNW_004955442:17,481,581...17,483,858
Ensembl chrNW_004955442:17,482,020...17,484,853
JBrowse link
G Ypel1 yippee like 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chrNW_004955442:17,400,655...17,423,896 JBrowse link
G Znf280a zinc finger protein 280A ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chrNW_004955455:6,893,363...6,899,637 JBrowse link
G Znf280b zinc finger protein 280B ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chrNW_004955455:6,866,576...6,888,907
Ensembl chrNW_004955455:6,866,762...6,868,411
JBrowse link
DiGeorge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm3 apoptosis inducing factor mitochondria associated 3 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:19,334,217...19,346,438
Ensembl chrNW_004955442:19,333,591...19,346,438
JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family member A2 ISO RGD PMID:12563036 RGD:734550 NCBI chrNW_004955450:16,406,578...16,453,048
Ensembl chrNW_004955450:16,406,436...16,453,180
JBrowse link
G Arvcf ARVCF delta catenin family member ISO ClinVar Annotator: match by term: DiGeorge sequence RGD
ClinVar
PMID:9126485, PMID:25516202, PMID:28492532, PMID:32581362 RGD:1578806 NCBI chrNW_004955442:18,109,421...18,149,969
Ensembl chrNW_004955442:18,109,439...18,127,971
JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955455:7,598,794...7,727,386
Ensembl chrNW_004955455:7,598,794...7,727,386
JBrowse link
G Ccdc116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:17,474,743...17,482,389 JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chrNW_004955442:18,513,398...18,548,317
Ensembl chrNW_004955442:18,514,731...18,547,805
JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chrNW_004955442:18,509,501...18,511,267
Ensembl chrNW_004955442:18,509,676...18,510,332
JBrowse link
G Cltcl1 clathrin heavy chain like 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chrNW_004955442:18,688,019...18,803,458
Ensembl chrNW_004955442:18,687,746...18,804,104
JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:8886163, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chrNW_004955442:18,130,282...18,152,153
Ensembl chrNW_004955442:18,130,987...18,137,412
JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:16399080, PMID:32581362 NCBI chrNW_004955442:19,358,202...19,388,552
Ensembl chrNW_004955442:19,358,081...19,388,815
JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chrNW_004955442:18,857,222...18,938,552
Ensembl chrNW_004955442:18,857,222...18,938,680
JBrowse link
G Dgcr6l DiGeorge syndrome critical region gene 6 like ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:17,810,570...17,815,905 JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:32581362 NCBI chrNW_004955442:17,998,565...18,034,247
Ensembl chrNW_004955442:17,998,565...18,030,831
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO RGD PMID:8644734 RGD:1580898 NCBI chrNW_004955486:9,464,390...9,469,984
Ensembl chrNW_004955486:9,464,313...9,469,984
JBrowse link
G Ess2 ess-2 splicing factor homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chrNW_004955442:18,829,037...18,840,542
Ensembl chrNW_004955442:18,828,976...18,840,542
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16399080 NCBI chrNW_004955485:8,517,412...8,521,732
Ensembl chrNW_004955485:8,517,412...8,521,770
JBrowse link
G Gnaz G protein subunit alpha z ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955455:7,501,153...7,554,235
Ensembl chrNW_004955455:7,501,153...7,554,235
JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532, PMID:32581362 NCBI chrNW_004955442:18,224,081...18,281,558 JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chrNW_004955442:18,359,664...18,360,979
Ensembl chrNW_004955442:18,359,664...18,360,979
JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chrNW_004955442:18,824,187...18,825,760
Ensembl chrNW_004955442:18,823,495...18,825,760
JBrowse link
G Hic2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:17,610,042...17,643,381
Ensembl chrNW_004955442:17,626,190...17,643,455
JBrowse link
G Kat6a lysine acetyltransferase 6A ISO RGD PMID:22921202 RGD:9590333 NCBI chrNW_004955536:900,198...1,015,520
Ensembl chrNW_004955536:900,198...1,015,520
JBrowse link
G Klhl22 kelch like family member 22 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:19,010,971...19,051,300 JBrowse link
G LOC102008776 chromosome unknown open reading frame, human C22orf39 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chrNW_004955442:18,570,867...18,575,809
Ensembl chrNW_004955442:18,570,867...18,576,076
JBrowse link
G LOC102009660 protein HIRA ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chrNW_004955442:18,581,370...18,673,590
Ensembl chrNW_004955442:18,581,370...18,673,761
JBrowse link
G Lztr1 leucine zipper like transcription regulator 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:19,315,427...19,333,361
Ensembl chrNW_004955442:19,315,427...19,333,522
JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:17,284,232...17,380,026
Ensembl chrNW_004955442:17,284,232...17,380,020
JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:19,112,269...19,179,742
Ensembl chrNW_004955442:19,112,270...19,179,742
JBrowse link
G Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955454:5,820,291...5,983,262
Ensembl chrNW_004955454:5,820,299...5,983,101
JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chrNW_004955442:18,578,107...18,580,517
Ensembl chrNW_004955442:18,577,952...18,580,517
JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:19,263,544...19,272,231
Ensembl chrNW_004955442:19,264,790...19,271,537
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955454:6,097,251...6,115,430 JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:19,446,955...19,594,790
Ensembl chrNW_004955442:19,446,955...19,598,725
JBrowse link
G Ppil2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:17,426,154...17,449,079
Ensembl chrNW_004955442:17,425,231...17,449,832
JBrowse link
G Ppm1f protein phosphatase, Mg2+/Mn2+ dependent 1F ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:17,233,258...17,256,009
Ensembl chrNW_004955442:17,227,723...17,252,383
JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955455:6,921,420...6,930,453
Ensembl chrNW_004955455:6,921,052...6,930,537
JBrowse link
G Rab36 RAB36, member RAS oncogene family ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955455:7,574,376...7,590,024
Ensembl chrNW_004955455:7,575,875...7,587,972
JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:17,985,456...17,992,945
Ensembl chrNW_004955442:17,985,544...17,992,759
JBrowse link
G Rsph14 radial spoke head 14 homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955455:7,491,693...7,574,257
Ensembl chrNW_004955455:7,488,504...7,572,047
JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:17,866,508...17,891,803
Ensembl chrNW_004955442:17,866,398...17,891,820
JBrowse link
G Scarf2 scavenger receptor class F member 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:18,995,253...19,006,499
Ensembl chrNW_004955442:18,996,070...19,001,624
JBrowse link
G Sdf2l1 stromal cell derived factor 2 like 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:17,468,302...17,470,296
Ensembl chrNW_004955442:17,468,302...17,470,296
JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532 NCBI chrNW_004955442:18,361,072...18,369,648 JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:19,525,411...19,537,986
Ensembl chrNW_004955442:19,525,411...19,538,384
JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chrNW_004955442:18,804,319...18,807,353
Ensembl chrNW_004955442:18,804,319...18,808,900
JBrowse link
G Slc7a4 solute carrier family 7 member 4 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:19,258,901...19,263,317
Ensembl chrNW_004955442:19,258,796...19,263,317
JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:19,419,381...19,446,782
Ensembl chrNW_004955442:19,419,821...19,446,665
JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:18,036,477...18,074,036
Ensembl chrNW_004955442:18,036,477...18,074,213
JBrowse link
G Tbx1 T-box transcription factor 1 ISO OMIM NCBI chrNW_004955442:18,320,674...18,327,062
Ensembl chrNW_004955442:18,319,762...18,325,337
JBrowse link
G Thap7 THAP domain containing 7 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:19,311,307...19,313,779
Ensembl chrNW_004955442:19,311,574...19,313,779
JBrowse link
G Tmem191c transmembrane protein 191C ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:17,145,361...17,149,050 JBrowse link
G Top3b DNA topoisomerase III beta ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:17,201,079...17,223,824
Ensembl chrNW_004955442:17,200,453...17,225,335
JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:17,993,130...17,997,944
Ensembl chrNW_004955442:17,993,434...17,997,850
JBrowse link
G Tssk2 testis specific serine kinase 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chrNW_004955442:18,846,491...18,847,485 JBrowse link
G Tuba8 tubulin alpha 8 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955454:6,129,821...6,148,645
Ensembl chrNW_004955454:6,129,612...6,148,645
JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532, PMID:32581362 NCBI chrNW_004955442:18,150,060...18,205,775
Ensembl chrNW_004955442:18,152,152...18,204,327
JBrowse link
G Ube2l3 ubiquitin conjugating enzyme E2 L3 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:17,487,815...17,581,675 JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: DiGeorge sequence RGD
ClinVar
PMID:10024240, PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 RGD:1580803 NCBI chrNW_004955442:18,548,545...18,568,989
Ensembl chrNW_004955442:18,548,545...18,569,366
JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955454:6,171,575...6,200,879 JBrowse link
G Ydjc YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:17,481,581...17,483,858
Ensembl chrNW_004955442:17,482,020...17,484,853
JBrowse link
G Ypel1 yippee like 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:17,400,655...17,423,896 JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:17,965,186...17,980,854
Ensembl chrNW_004955442:17,965,963...17,980,854
JBrowse link
G Znf280a zinc finger protein 280A ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955455:6,893,363...6,899,637 JBrowse link
G Znf280b zinc finger protein 280B ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955455:6,866,576...6,888,907
Ensembl chrNW_004955455:6,866,762...6,868,411
JBrowse link
G Znf74 zinc finger protein 74 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004955442:18,969,061...18,982,193 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 ISO ClinVar Annotator: match by term: Cystic parathyroid adenoma ClinVar PMID:12434154 NCBI chrNW_004955406:30,533,919...30,665,812
Ensembl chrNW_004955406:30,533,060...30,665,812
JBrowse link
familial isolated hypoparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium sensing receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial isolated hypoparathyroidism
ClinVar Annotator: match by term: Hypoparathyroidism familial isolated
CTD
ClinVar
PMID:1706284, PMID:8636323, PMID:10023897, PMID:10217111, PMID:10912749, PMID:11161843, PMID:11248745, PMID:11580999, PMID:11733622, PMID:11807402, PMID:12018449, PMID:12040821, PMID:12052452, PMID:12239240, PMID:12574201, PMID:14508624, PMID:14997007, PMID:15531522, PMID:15598778, PMID:15864123, PMID:15879434, PMID:16497624, PMID:17018660, PMID:17117288, PMID:17309124, PMID:17320849, PMID:17332735, PMID:17555508, PMID:17698911, PMID:18328986, PMID:18680227, PMID:18756473, PMID:19694204, PMID:20119591, PMID:20164288, PMID:20602573, PMID:21414629, PMID:21521328, PMID:21645025, PMID:22024717, PMID:22192860, PMID:22422767, PMID:24033266, PMID:24133354, PMID:25292184, PMID:25705702, PMID:25741868, PMID:26107257, PMID:26166472, PMID:26467025, PMID:26646938, PMID:27157104, PMID:27957351, PMID:28492532, PMID:29846619 NCBI chrNW_004955427:21,486,608...21,574,017
Ensembl chrNW_004955427:21,486,427...21,575,210
JBrowse link
G Gcm2 glial cells missing transcription factor 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism familial isolated
ClinVar Annotator: match by term: Familial isolated hypoparathyroidism
ClinVar PMID:15728199, PMID:18182452, PMID:21642377, PMID:23155703, PMID:25741868, PMID:27745835, PMID:28492532, PMID:29264504 NCBI chrNW_004955465:3,523,029...3,530,342
Ensembl chrNW_004955465:3,523,029...3,530,342
JBrowse link
G Pth parathyroid hormone ISO DNA:missense mutation:cds:p.C18R (human)
ClinVar Annotator: match by term: Hypoparathyroidism familial isolated
ClinVar Annotator: match by term: Familial isolated hypoparathyroidism
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1302009, PMID:2212001, PMID:24033266, PMID:25741868, PMID:28492532 RGD:1598941 NCBI chrNW_004955414:28,828,389...28,831,417
Ensembl chrNW_004955414:28,825,651...28,831,117
JBrowse link
Familial Isolated Hypoparathyroidism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO OMIM NCBI chrNW_004955414:28,828,389...28,831,417
Ensembl chrNW_004955414:28,825,651...28,831,117
JBrowse link
Familial Isolated Hypoparathyroidism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gcm2 glial cells missing transcription factor 2 ISO OMIM NCBI chrNW_004955465:3,523,029...3,530,342
Ensembl chrNW_004955465:3,523,029...3,530,342
JBrowse link
hyperparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium sensing receptor ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:9011580, PMID:11589681, PMID:12671052 RGD:734698 NCBI chrNW_004955427:21,486,608...21,574,017
Ensembl chrNW_004955427:21,486,427...21,575,210
JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21541686 NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300
JBrowse link
G LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ISO RGD PMID:11416220 RGD:734871 NCBI chrNW_004955458:5,472,404...5,477,001
Ensembl chrNW_004955458:5,472,404...5,477,001
JBrowse link
G Men1 menin 1 ISO DNA:SNPs: :multiple
ClinVar Annotator: match by term: Hyperparathyroidism
RGD
ClinVar
PMID:9103196, PMID:9215689, PMID:9407947, PMID:9463336, PMID:9683585, PMID:9888389, PMID:9935177, PMID:10090472, PMID:10634422, PMID:10647896, PMID:10759881, PMID:10843194, PMID:10918183, PMID:11807402, PMID:12652570, PMID:15670192, PMID:16322378, PMID:16563611, PMID:17590169, PMID:17623761, PMID:17879353, PMID:17953629, PMID:20833329, PMID:21819486, PMID:22187299, PMID:22703879, PMID:23321498, PMID:23933118, PMID:24033266, PMID:24728327, PMID:24997771, PMID:25309785, PMID:25637381, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30630164, PMID:30820182 RGD:2317347 NCBI chrNW_004955422:20,356,491...20,363,374
Ensembl chrNW_004955422:20,356,491...20,363,575
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:parathyroid gland (human) RGD PMID:17047023 RGD:7207778 NCBI chrNW_004955461:2,714,022...2,718,872
Ensembl chrNW_004955461:2,714,022...2,718,982
JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11014383 NCBI chrNW_004955420:25,274,269...25,291,984
Ensembl chrNW_004955420:25,273,431...25,296,471
JBrowse link
G Trpv6 transient receptor potential cation channel subfamily V member 6 ISO ClinVar Annotator: match by term: Hyperparathyroidism ClinVar PMID:25741868, PMID:30144375 NCBI chrNW_004955494:820,801...835,931
Ensembl chrNW_004955494:818,643...836,126
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 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chrNW_004955406:30,603,238...30,610,822
Ensembl chrNW_004955406:30,603,238...30,610,822
JBrowse link
G Cdc73 cell division cycle 73 ISO OMIM NCBI chrNW_004955406:30,533,919...30,665,812
Ensembl chrNW_004955406:30,533,060...30,665,812
JBrowse link
G Glrx2 glutaredoxin 2 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chrNW_004955406:30,497,562...30,506,463
Ensembl chrNW_004955406:30,497,562...30,509,340
JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1
ClinVar Annotator: match by term: Familial isolated hyperparathyroidism
ClinVar PMID:15292357, PMID:25741868 NCBI chrNW_004955422:20,356,491...20,363,374
Ensembl chrNW_004955422:20,356,491...20,363,575
JBrowse link
G Rgs1 regulator of G protein signaling 1 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chrNW_004955406:30,042,354...30,047,172
Ensembl chrNW_004955406:30,041,870...30,047,752
JBrowse link
G Rgs13 regulator of G protein signaling 13 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chrNW_004955406:30,111,770...30,134,605
Ensembl chrNW_004955406:30,111,760...30,135,283
JBrowse link
G Rgs18 regulator of G protein signaling 18 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chrNW_004955406:29,573,127...29,594,991
Ensembl chrNW_004955406:29,573,035...29,594,991
JBrowse link
G Rgs2 regulator of G protein signaling 2 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chrNW_004955406:30,261,757...30,265,389
Ensembl chrNW_004955406:30,261,757...30,266,005
JBrowse link
G Rgs21 regulator of G protein signaling 21 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chrNW_004955406:29,778,745...29,800,009
Ensembl chrNW_004955406:29,778,745...29,800,009
JBrowse link
G Ro60 Ro60, Y RNA binding protein ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chrNW_004955406:30,468,775...30,491,206
Ensembl chrNW_004955406:30,468,775...30,491,206
JBrowse link
G Uchl5 ubiquitin C-terminal hydrolase L5 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chrNW_004955406:30,432,652...30,468,741 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 ISO ClinVar Annotator: match by term: Hyperparathyroidism 2 ClinVar PMID:25637381 NCBI chrNW_004955406:30,603,238...30,610,822
Ensembl chrNW_004955406:30,603,238...30,610,822
JBrowse link
G Cdc73 cell division cycle 73 ISO OMIM NCBI chrNW_004955406:30,533,919...30,665,812
Ensembl chrNW_004955406:30,533,060...30,665,812
JBrowse link
Hyperparathyroidism 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Men1 menin 1 ISO ClinVar Annotator: match by term: Familial isolated hyperparathyroidism ClinVar PMID:25741868 NCBI chrNW_004955422:20,356,491...20,363,374
Ensembl chrNW_004955422:20,356,491...20,363,575
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 ISO OMIM NCBI chrNW_004955465:3,523,029...3,530,342
Ensembl chrNW_004955465:3,523,029...3,530,342
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 ISO OMIM NCBI chrNW_004955427:21,486,608...21,574,017
Ensembl chrNW_004955427:21,486,427...21,575,210
JBrowse link
hypoparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium sensing receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11701698 NCBI chrNW_004955427:21,486,608...21,574,017
Ensembl chrNW_004955427:21,486,427...21,575,210
JBrowse link
G Gata3 GATA binding protein 3 ISO HDR Syndrome/Barakat Syndrome, OMIM:146255 DNA:point_mutation, deletion, deletion:CDS:Arg277Ter, 49bpDELnt465-513, 12bpDELnt946-957 RGD PMID:10935639 RGD:1358706 NCBI chrNW_004955421:24,448,446...24,477,885
Ensembl chrNW_004955421:24,457,496...24,478,744
JBrowse link
G Tbce tubulin folding cofactor E ISO hypoparathyroidism-retardation-dysmorphism syndrome, OMIM:241410 RGD PMID:12389028 RGD:1599303 NCBI chrNW_004955492:4,502,705...4,573,126 JBrowse link
Hypoparathyroidism, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO DNA:snp:intron:IVS2+1G>C (human) RGD PMID:1302009 RGD:1598943 NCBI chrNW_004955414:28,828,389...28,831,417
Ensembl chrNW_004955414:28,825,651...28,831,117
JBrowse link
hypoparathyroidism-deafness-renal disease syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd7 acyl-CoA binding domain containing 7 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,367,352...19,372,358
Ensembl chrNW_004955429:19,371,693...19,372,310
JBrowse link
G Akr1e2 aldo-keto reductase family 1 member E2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:714,843...731,285
Ensembl chrNW_004955429:715,157...731,303
JBrowse link
G Ankrd16 ankyrin repeat domain 16 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:22,520,707...22,535,618
Ensembl chrNW_004955421:22,521,284...22,534,873
JBrowse link
G Arl5b ADP ribosylation factor like GTPase 5B ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:9,564,685...9,589,997
Ensembl chrNW_004955429:9,566,411...9,589,997
JBrowse link
G Asb13 ankyrin repeat and SOCS box containing 13 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:22,328,393...22,380,656
Ensembl chrNW_004955421:22,327,523...22,349,641
JBrowse link
G Atp5f1c ATP synthase F1 subunit gamma ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:24,234,473...24,253,640
Ensembl chrNW_004955421:24,234,413...24,253,640
JBrowse link
G Bend7 BEN domain containing 7 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:20,674,390...20,756,760
Ensembl chrNW_004955429:20,674,392...20,754,634
JBrowse link
G C1ql3 complement C1q like 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:11,287,486...11,296,716
Ensembl chrNW_004955429:11,287,486...11,296,716
JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:9,642,725...9,966,175
Ensembl chrNW_004955429:9,644,053...9,966,175
JBrowse link
G Camk1d calcium/calmodulin dependent protein kinase ID ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:391,235...819,240
Ensembl chrNW_004955462:391,235...813,598
JBrowse link
G Ccdc3 coiled-coil domain containing 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:909,300...1,013,927
Ensembl chrNW_004955462:909,300...1,013,927
JBrowse link
G Cdc123 cell division cycle 123 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:212,090...270,168
Ensembl chrNW_004955462:212,090...274,334
JBrowse link
G Cdnf cerebral dopamine neurotrophic factor ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,586,841...19,592,727
Ensembl chrNW_004955429:19,583,041...19,593,792
JBrowse link
G Celf2 CUGBP Elav-like family member 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:27,064,497...27,374,850
Ensembl chrNW_004955421:26,992,734...27,374,850
JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:10,789,674...11,038,297
Ensembl chrNW_004955429:10,788,959...11,038,845
JBrowse link
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,461,446...19,501,908
Ensembl chrNW_004955429:19,461,528...19,505,321
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:103,501...163,472
Ensembl chrNW_004955462:103,598...162,344
JBrowse link
G Echdc3 enoyl-CoA hydratase domain containing 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:27,712,527...27,731,141
Ensembl chrNW_004955421:27,712,528...27,730,623
JBrowse link
G Fam107b family with sequence similarity 107 member B ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,748,880...19,818,453 JBrowse link
G Fam171a1 family with sequence similarity 171 member A1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,184,886...19,241,987
Ensembl chrNW_004955429:19,114,953...19,241,987
JBrowse link
G Fbh1 F-box DNA helicase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:22,535,777...22,579,965
Ensembl chrNW_004955421:22,535,777...22,579,965
JBrowse link
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,981,599...20,552,700 JBrowse link
G Gata3 GATA binding protein 3 ISO OMIM NCBI chrNW_004955421:24,448,446...24,477,885
Ensembl chrNW_004955421:24,457,496...24,478,744
JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:22,449,620...22,480,721
Ensembl chrNW_004955421:22,450,402...22,480,512
JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:10,394,046...10,406,945
Ensembl chrNW_004955429:10,384,708...10,406,945
JBrowse link
G Il15ra interleukin 15 receptor subunit alpha ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:22,590,168...22,612,835 JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:22,642,004...22,694,729
Ensembl chrNW_004955421:22,641,511...22,694,913
JBrowse link
G Itga8 integrin subunit alpha 8 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:11,932,764...12,120,757
Ensembl chrNW_004955429:11,932,570...12,120,821
JBrowse link
G Itih2 inter-alpha-trypsin inhibitor heavy chain 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:24,149,081...24,189,810
Ensembl chrNW_004955421:24,150,526...24,189,810
JBrowse link
G Itih5 inter-alpha-trypsin inhibitor heavy chain 5 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:24,042,405...24,125,085
Ensembl chrNW_004955421:24,043,182...24,125,085
JBrowse link
G Kin Kin17 DNA and RNA binding protein ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:24,196,909...24,234,320 JBrowse link
G Mcm10 minichromosome maintenance 10 replication initiation factor ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:1,151,163...1,186,601
Ensembl chrNW_004955462:1,153,058...1,188,799
JBrowse link
G Meig1 meiosis/spermiogenesis associated 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,435,004...19,444,833
Ensembl chrNW_004955429:19,433,900...19,444,360
JBrowse link
G Mindy3 MINDY lysine 48 deubiquitinase 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:11,805,205...11,890,103
Ensembl chrNW_004955429:11,805,080...11,890,103
JBrowse link
G Net1 neuroepithelial cell transforming 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:22,105,292...22,154,368
Ensembl chrNW_004955421:22,105,257...22,156,292
JBrowse link
G Nmt2 N-myristoyltransferase 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,282,568...19,356,322 JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:9,594,964...9,639,614
Ensembl chrNW_004955429:9,594,958...9,639,614
JBrowse link
G Nudt5 nudix hydrolase 5 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:190,872...211,975
Ensembl chrNW_004955462:190,999...203,736
JBrowse link
G Olah oleoyl-ACP hydrolase ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,375,366...19,394,068 JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:1,098,118...1,150,291
Ensembl chrNW_004955462:1,107,510...1,151,269
JBrowse link
G Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:22,762,290...22,868,677
Ensembl chrNW_004955421:22,848,548...22,866,035
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:1,238,622...1,250,731
Ensembl chrNW_004955462:1,238,622...1,250,736
JBrowse link
G Prkcq protein kinase C theta ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:23,072,607...23,151,591
Ensembl chrNW_004955421:23,070,955...23,175,699
JBrowse link
G Proser2 proline and serine rich 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:27,809,610...27,823,125 JBrowse link
G Prpf18 pre-mRNA processing factor 18 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:20,581,457...20,613,258 JBrowse link
G Pter phosphotriesterase related ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:11,296,833...11,356,082
Ensembl chrNW_004955429:11,293,644...11,356,239
JBrowse link
G Rbm17 RNA binding motif protein 17 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:22,732,757...22,745,926
Ensembl chrNW_004955421:22,732,757...22,746,014
JBrowse link
G Rpp38 ribonuclease P/MRP subunit p38 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,358,765...19,360,973
Ensembl chrNW_004955429:19,358,765...19,360,973
JBrowse link
G Rsu1 Ras suppressor protein 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:11,043,205...11,234,698
Ensembl chrNW_004955429:11,043,040...11,235,758
JBrowse link
G Sec61a2 SEC61 translocon alpha 2 subunit ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:166,423...189,592
Ensembl chrNW_004955462:166,423...189,585
JBrowse link
G Sephs1 selenophosphate synthetase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:20,849,526...20,871,074
Ensembl chrNW_004955429:20,847,861...20,871,074
JBrowse link
G Sfmbt2 Scm like with four mbt domains 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:23,691,648...23,913,781 JBrowse link
G Slc39a12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:10,053,022...10,116,713
Ensembl chrNW_004955429:10,052,968...10,116,727
JBrowse link
G St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:10,538,660...10,660,493
Ensembl chrNW_004955429:10,538,661...10,658,008
JBrowse link
G Stam signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:10,306,957...10,366,072
Ensembl chrNW_004955429:10,306,957...10,366,081
JBrowse link
G Suv39h2 suppressor of variegation 3-9 homolog 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,503,197...19,526,454
Ensembl chrNW_004955429:19,503,197...19,528,027
JBrowse link
G Taf3 TATA-box binding protein associated factor 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:24,263,395...24,414,472 JBrowse link
G Tasor2 transcription activation suppressor family member 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:22,381,295...22,448,115
Ensembl chrNW_004955421:22,401,983...22,447,453
JBrowse link
G Trdmt1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:10,741,512...10,774,268
Ensembl chrNW_004955429:10,742,097...10,771,877
JBrowse link
G Ucma upper zone of growth plate and cartilage matrix associated ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:1,195,738...1,204,255
Ensembl chrNW_004955462:1,195,608...1,204,266
JBrowse link
G Ucn3 urocortin 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955463:218,456...218,959 JBrowse link
G Upf2 UPF2 regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:27,867,663...27,962,809
Ensembl chrNW_004955421:27,861,958...27,952,835
JBrowse link
G Usp6nl USP6 N-terminal like ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:27,469,652...27,593,771
Ensembl chrNW_004955421:27,471,483...27,593,775
JBrowse link
G Vim vimentin ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:10,708,852...10,716,743
Ensembl chrNW_004955429:10,707,719...10,717,554
JBrowse link
hypoparathyroidism-retardation-dysmorphism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism retardation dysmorphism syndrome
ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955492:4,472,585...4,502,704
Ensembl chrNW_004955492:4,472,587...4,501,531
JBrowse link
G Tbce tubulin folding cofactor E ISO OMIM NCBI chrNW_004955492:4,502,705...4,573,126 JBrowse link
parathyroid adenoma 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: Parathyroid adenoma ClinVar PMID:8675635, PMID:8878438, PMID:17284438, PMID:19389809, PMID:19779033, PMID:22798347, PMID:23372019, PMID:25741868, PMID:26467025 NCBI chrNW_004955427:21,486,608...21,574,017
Ensembl chrNW_004955427:21,486,427...21,575,210
JBrowse link
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Parathyroid adenoma, somatic ClinVar PMID:12434154, PMID:15531515, PMID:16061557, PMID:28492532 NCBI chrNW_004955406:30,533,919...30,665,812
Ensembl chrNW_004955406:30,533,060...30,665,812
JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Parathyroid adenomas
ClinVar Annotator: match by term: Parathyroid adenoma, somatic
ClinVar PMID:9241276, PMID:9820618, PMID:12016472, PMID:20231234, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chrNW_004955422:20,356,491...20,363,374
Ensembl chrNW_004955422:20,356,491...20,363,575
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Parathyroid adenoma ClinVar PMID:22558107, PMID:23514105, PMID:25741868, PMID:25862857, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chrNW_004955442:15,178,356...15,216,978
Ensembl chrNW_004955442:15,178,487...15,216,362
JBrowse link
Parathyroid Cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Parathyroid cancer ClinVar PMID:28492532 NCBI chrNW_004955406:30,533,919...30,665,812
Ensembl chrNW_004955406:30,533,060...30,665,812
JBrowse link
parathyroid carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt2 beta-1,3-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Parathyroid carcinoma ClinVar PMID:25444225, PMID:28492532, PMID:29040582 NCBI chrNW_004955406:30,603,238...30,610,822
Ensembl chrNW_004955406:30,603,238...30,610,822
JBrowse link
G Cdc73 cell division cycle 73 ISO OMIM NCBI chrNW_004955406:30,533,919...30,665,812
Ensembl chrNW_004955406:30,533,060...30,665,812
JBrowse link
Parathyroid Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc73 cell division cycle 73 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955406:30,533,919...30,665,812
Ensembl chrNW_004955406:30,533,060...30,665,812
JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Parathyroid gland neoplasm ClinVar PMID:25157968, PMID:26619011, PMID:26822237 NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
JBrowse link
G Pth parathyroid hormone ISO protein:increased expression:serum (human) RGD PMID:23534747 RGD:7242410 NCBI chrNW_004955414:28,828,389...28,831,417
Ensembl chrNW_004955414:28,825,651...28,831,117
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: :(rs1544410),(rs7975232),(rs731236)(human) RGD PMID:9070272 RGD:13432057 NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048
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 ISO ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:7874174, PMID:7916660, PMID:9422777, PMID:10077597, PMID:10912782, PMID:11102444, PMID:11889203, PMID:12095982, PMID:12114500, PMID:17284438, PMID:19389809, PMID:21239511, PMID:23077345, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chrNW_004955427:21,486,608...21,574,017
Ensembl chrNW_004955427:21,486,427...21,575,210
JBrowse link
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:22187299, PMID:23293331, PMID:25959515, PMID:28492532, PMID:30311386 NCBI chrNW_004955406:30,533,919...30,665,812
Ensembl chrNW_004955406:30,533,060...30,665,812
JBrowse link
G Cdkn1b cyclin dependent kinase inhibitor 1B ISO ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:3328816, PMID:21289244, PMID:25741868, PMID:26762354, PMID:27038812, PMID:27153395, PMID:28492532 NCBI chrNW_004955413:9,615,542...9,620,542
Ensembl chrNW_004955413:9,615,542...9,620,542
JBrowse link
G Gpr19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:25741868 NCBI chrNW_004955413:9,551,156...9,596,279
Ensembl chrNW_004955413:9,551,156...9,586,055
JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:564891, PMID:9215689, PMID:18775714, PMID:22703879, PMID:24997771, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chrNW_004955422:20,356,491...20,363,374
Ensembl chrNW_004955422:20,356,491...20,363,575
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:30311386 NCBI chrNW_004955447:16,570,652...16,613,410
Ensembl chrNW_004955447:16,569,909...16,612,373
JBrowse link
G Pth parathyroid hormone ISO protein:increased expression:serum (human)
ClinVar Annotator: match by term: Primary hyperparathyroidism
RGD
ClinVar
PMID:1425431, PMID:18784115, PMID:23447517 RGD:7242421 NCBI chrNW_004955414:28,828,389...28,831,417
Ensembl chrNW_004955414:28,825,651...28,831,117
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: :(rs1544410),(rs7975232),(rs731236)(human) RGD PMID:9070272 RGD:13432057 NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048
JBrowse link
renal osteodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO associated with Kidney Failure, Chronic; protein:decreased expression:serum (human) RGD PMID:18480316 RGD:7242687 NCBI chrNW_004955414:28,828,389...28,831,417
Ensembl chrNW_004955414:28,825,651...28,831,117
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 (Junior blood group) treatment ISO RGD PMID:27988213 RGD:13450940 NCBI chrNW_004955474:12,365,903...12,408,715 JBrowse link
G Acp5 acid phosphatase 5, tartrate resistant ISO CTD Direct Evidence: marker/mechanism CTD PMID:21985997, PMID:22373954 NCBI chrNW_004955495:2,418,113...2,421,181
Ensembl chrNW_004955495:2,418,364...2,421,538
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:22373954 NCBI chrNW_004955452:1,820,212...1,873,877
Ensembl chrNW_004955452:1,820,174...1,874,226
JBrowse link
G Casr calcium sensing receptor severity ISO associated with Kidney Failure, Chronic;DNA:missense mutations:cds:p.R990G, p.Q1011E (human)
protein:decreased expression:parathyroid gland (human)
RGD PMID:11044218, PMID:19640368 RGD:7205505, RGD:7205664 NCBI chrNW_004955427:21,486,608...21,574,017
Ensembl chrNW_004955427:21,486,427...21,575,210
JBrowse link
G Eng endoglin ISO associated with Renal Insufficiency, Chronic; protein:increased expression:parathyroid gland, vasculature (human) RGD PMID:18398016 RGD:7248778 NCBI chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21350317 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Kl klotho ISO associated with Uremia;mRNA,protein:increased expression:parathyroid gland: RGD PMID:20631679 RGD:10403078 NCBI chrNW_004955431:12,782,913...12,833,215
Ensembl chrNW_004955431:12,782,846...12,833,215
JBrowse link
G Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 ISO associated with Kidney Failure, Chronic RGD PMID:19770516 RGD:8693427 NCBI chrNW_004955495:1,250,557...1,261,617
Ensembl chrNW_004955495:1,250,453...1,266,235
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO associated with kidney failure, chronic: protein:increased expression:parathyroid gland
associated with Uremia
RGD PMID:21335517 RGD:5135046 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
JBrowse link
G Pth parathyroid hormone treatment ISO associated with Uremia
associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human)
associated with Kidney Failure, Chronic
CTD Direct Evidence: marker/mechanism
associated with Renal Insufficiency, Chronic; DNA:snp:exon:g.350C>A (rs6256) (human)
RGD
CTD
PMID:12046039, PMID:21335517, PMID:21350317, PMID:22118402, PMID:22373954, PMID:23121374, PMID:23499504, PMID:23529273 RGD:5135046, RGD:7242411, RGD:7242414, RGD:7242728, RGD:7242750 NCBI chrNW_004955414:28,828,389...28,831,417
Ensembl chrNW_004955414:28,825,651...28,831,117
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b treatment ISO associated with Kidney Failure, Chronic RGD PMID:22156488 RGD:7205487 NCBI chrNW_004955417:24,804,708...24,831,338
Ensembl chrNW_004955417:24,804,664...24,831,894
JBrowse link
G Vdr vitamin D receptor treatment ISO associated with Kidney Failure, Chronic RGD PMID:8807569 RGD:8158085 NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048
JBrowse link
Takao VCF Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Takao vcf syndrome ClinVar PMID:11748311, PMID:15355425, PMID:18375573, PMID:25741868, PMID:28492532 NCBI chrNW_004955442:18,320,674...18,327,062
Ensembl chrNW_004955442:18,319,762...18,325,337
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 ISO OMIM NCBI chrNW_004955494:820,801...835,931
Ensembl chrNW_004955494:818,643...836,126
JBrowse link
velocardiofacial syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx1 T-box transcription factor 1 ISO OMIM NCBI chrNW_004955442:18,320,674...18,327,062
Ensembl chrNW_004955442:18,319,762...18,325,337
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11834
    disease of anatomical entity 11389
      endocrine system disease 3929
        parathyroid gland disease 166
          Parathyroid Neoplasms + 8
          hyperparathyroidism + 32
          hypoparathyroidism + 135
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.