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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.


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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_004936600:4,004,847...4,010,626 JBrowse link
G Six1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chrNW_004936495:4,839,496...4,842,906 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_004936536:8,574,064...8,599,446 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_004936536:8,574,064...8,599,446 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_004936619:2,057,764...2,062,781 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_004936619:1,889,841...1,932,646 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_004936619:1,983,602...2,026,494 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_004936619:1,786,223...1,816,083 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_004936619:1,748,337...1,751,748 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_004936619:2,049,920...2,051,944 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_004936619:2,228,222...2,230,844 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_004936619:1,756,829...1,782,063 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_004936619:2,070,836...2,137,314 JBrowse link
G Vpreb1 V-set pre-B cell surrogate light chain 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chrNW_004936619:1,700,203...1,700,746 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_004936619:2,065,118...2,067,032 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_004936619:1,958,370...1,984,182 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_004936874:624,846...626,357 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_004936874:597,268...619,809 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_004936619:2,485,840...2,505,075 JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family member A2 ISO RGD PMID:12563036 RGD:734550 NCBI chrNW_004936471:19,175,997...19,263,335 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_004936619:3,884,450...3,934,559 JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:288,377...432,297 JBrowse link
G Ccdc116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:2,057,764...2,062,781 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_004936619:3,420,110...3,452,419 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_004936619:3,455,508...3,457,053 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_004936619:3,181,890...3,276,305 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_004936619:3,847,059...3,883,866 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_004936619:2,447,686...2,479,589 JBrowse link
G CUNH22orf39 chromosome unknown C22orf39 homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chrNW_004936619:3,388,427...3,393,299 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_004936619:3,033,312...3,120,473 JBrowse link
G Dgcr6l DiGeorge syndrome critical region gene 6 like ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:4,203,792...4,209,417 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_004936619:3,977,307...4,014,490 JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO RGD PMID:8644734 RGD:1580898 NCBI chrNW_004936737:1,797,348...1,811,043 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_004936619:3,132,234...3,154,091 JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16399080 NCBI chrNW_004936600:4,004,847...4,010,626 JBrowse link
G Gnaz G protein subunit alpha z ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:191,097...244,034 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_004936619:3,691,327...3,760,906 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_004936619:3,627,649...3,629,129 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_004936619:3,154,834...3,158,654 JBrowse link
G Hic2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:2,205,106...2,214,199 JBrowse link
G Kat6a lysine acetyltransferase 6A ISO RGD PMID:22921202 RGD:9590333 NCBI chrNW_004936785:602,754...704,504 JBrowse link
G Klhl22 kelch like family member 22 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:2,854,915...2,899,386 JBrowse link
G LOC101957075 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_004936619:3,282,170...3,380,151 JBrowse link
G Lztr1 leucine zipper like transcription regulator 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:2,505,300...2,523,500 JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:1,889,841...1,932,646 JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:2,687,004...2,780,898 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_004936807:769,417...985,752 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_004936619:3,380,957...3,384,567 JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:2,560,685...2,567,612 JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936807:1,035,733...1,046,225 JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:2,240,641...2,377,088 JBrowse link
G Ppil2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:1,983,602...2,026,494 JBrowse link
G Ppm1f protein phosphatase, Mg2+/Mn2+ dependent 1F ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:1,786,223...1,816,083 JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:1,748,337...1,751,748 JBrowse link
G Rab36 RAB36, member RAS oncogene family ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:262,356...278,682 JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:4,021,751...4,028,208 JBrowse link
G Rsph14 radial spoke head 14 homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:181,747...257,866 JBrowse link
G Rtl10 retrotransposon Gag like 10 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532, PMID:32581362 NCBI chrNW_004936619:3,755,537...3,760,909 JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:4,130,757...4,155,885 JBrowse link
G Scarf2 scavenger receptor class F member 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:2,900,536...2,915,306 JBrowse link
G Sdf2l1 stromal cell derived factor 2 like 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:2,049,920...2,051,944 JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532 NCBI chrNW_004936619:3,619,008...3,627,762 JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:2,298,745...2,310,740 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_004936619:3,177,868...3,181,095 JBrowse link
G Slc7a4 solute carrier family 7 member 4 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:2,568,322...2,572,391 JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:2,377,284...2,402,049 JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:3,934,791...3,973,695 JBrowse link
G Tbx1 T-box transcription factor 1 ISO OMIM NCBI chrNW_004936619:3,662,567...3,670,470 JBrowse link
G Thap7 THAP domain containing 7 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:2,525,152...2,528,242 JBrowse link
G Tmem191c transmembrane protein 191C ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:2,228,222...2,230,844 JBrowse link
G Top3b DNA topoisomerase III beta ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:1,756,829...1,782,063 JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:4,015,072...4,020,163 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_004936619:3,126,625...3,130,788 JBrowse link
G Tuba8 tubulin alpha 8 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936807:1,061,542...1,079,438 JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532, PMID:32581362 NCBI chrNW_004936619:3,789,940...3,847,286 JBrowse link
G Ube2l3 ubiquitin conjugating enzyme E2 L3 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:2,070,836...2,137,314 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_004936619:3,395,130...3,419,704 JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936807:1,090,928...1,116,166 JBrowse link
G Vpreb1 V-set pre-B cell surrogate light chain 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:1,700,203...1,700,746 JBrowse link
G Ydjc YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:2,065,118...2,067,032 JBrowse link
G Ypel1 yippee like 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:1,958,370...1,984,182 JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:4,032,665...4,048,079 JBrowse link
G Znf280a zinc finger protein 280A ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936874:624,846...626,357 JBrowse link
G Znf280b zinc finger protein 280B ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936874:597,268...619,809 JBrowse link
G Znf74 zinc finger protein 74 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chrNW_004936619:2,939,104...2,947,461 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_004936638:1,365,457...1,482,497 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_004936536:8,574,064...8,599,446 JBrowse link
G Gcm2 glial cells missing transcription factor 2 ISO ClinVar Annotator: match by term: Familial isolated hypoparathyroidism
ClinVar Annotator: match by term: Hypoparathyroidism familial isolated
ClinVar PMID:15728199, PMID:18182452, PMID:21642377, PMID:23155703, PMID:25741868, PMID:27745835, PMID:28492532, PMID:29264504 NCBI chrNW_004936534:2,135,627...2,142,621 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_004936528:5,081,569...5,084,030 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_004936528:5,081,569...5,084,030 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_004936534:2,135,627...2,142,621 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_004936536:8,574,064...8,599,446 JBrowse link
G LOC101978323 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ISO RGD PMID:11416220 RGD:734871 NCBI chrNW_004936646:1,899,686...1,904,104 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_004936599:4,504,489...4,510,085 JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:parathyroid gland (human) RGD PMID:17047023 RGD:7207778 NCBI chrNW_004936470:20,480,844...20,485,955 JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11014383 NCBI chrNW_004936596:674,088...693,191 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_004936527:345,237...359,877 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_004936638:1,424,641...1,434,266 JBrowse link
G Cdc73 cell division cycle 73 ISO OMIM NCBI chrNW_004936638:1,365,457...1,482,497 JBrowse link
G Glrx2 glutaredoxin 2 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chrNW_004936638:1,325,076...1,333,994 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_004936599:4,504,489...4,510,085 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_004936638:879,241...883,423 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_004936638:940,691...963,585 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_004936638:514,412...535,417 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_004936638:1,065,866...1,068,649 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_004936638:688,157...709,883 JBrowse link
G Ro60 Ro60, Y RNA binding protein ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chrNW_004936638:1,289,452...1,320,522 JBrowse link
G Uchl5 ubiquitin C-terminal hydrolase L5 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chrNW_004936638:1,242,950...1,289,376 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_004936638:1,424,641...1,434,266 JBrowse link
G Cdc73 cell division cycle 73 ISO OMIM NCBI chrNW_004936638:1,365,457...1,482,497 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_004936599:4,504,489...4,510,085 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_004936534:2,135,627...2,142,621 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_004936536:8,574,064...8,599,446 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_004936536:8,574,064...8,599,446 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_004936484:6,780,692...6,800,883 JBrowse link
G Tbce tubulin folding cofactor E ISO hypoparathyroidism-retardation-dysmorphism syndrome, OMIM:241410 RGD PMID:12389028 RGD:1599303 NCBI chrNW_004936484:17,048,187...17,097,414 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_004936528:5,081,569...5,084,030 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_004936574:5,638,054...5,644,749 JBrowse link
G Akr1e2 aldo-keto reductase family 1 member E2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:9,472,920...9,490,624 JBrowse link
G Ankrd16 ankyrin repeat domain 16 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:8,690,183...8,700,705 JBrowse link
G Arl5b ADP ribosylation factor like GTPase 5B ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936520:8,877,277...8,903,772 JBrowse link
G Asb13 ankyrin repeat and SOCS box containing 13 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:8,855,456...8,873,940 JBrowse link
G Atp5f1c ATP synthase F1 subunit gamma ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:7,016,049...7,031,060 JBrowse link
G Bend7 BEN domain containing 7 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936613:237,498...318,480 JBrowse link
G C1ql3 complement C1q like 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936520:10,656,437...10,665,067 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_004936520:8,951,994...9,164,039 JBrowse link
G Calml3 calmodulin like 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:8,976,512...8,977,792 JBrowse link
G Calml5 calmodulin like 5 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:8,999,323...9,000,224 JBrowse link
G Camk1d calcium/calmodulin dependent protein kinase ID ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:2,626,909...2,768,304 JBrowse link
G Ccdc3 coiled-coil domain containing 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:2,455,819...2,567,467 JBrowse link
G Cdc123 cell division cycle 123 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:3,099,221...3,149,005 JBrowse link
G Cdnf cerebral dopamine neurotrophic factor ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936613:1,386,249...1,406,295 JBrowse link
G Celf2 CUGBP Elav-like family member 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:3,904,726...4,401,560 JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936520:10,140,784...10,410,082 JBrowse link
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936613:1,467,797...1,501,107 JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:3,207,650...3,251,661 JBrowse link
G Echdc3 enoyl-CoA hydratase domain containing 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:3,508,235...3,530,593 JBrowse link
G Fam107b family with sequence similarity 107 member B ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936613:1,155,094...1,354,026 JBrowse link
G Fam171a1 family with sequence similarity 171 member A1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936574:5,742,637...5,795,351 JBrowse link
G Fbh1 F-box DNA helicase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:8,635,752...8,689,949 JBrowse link
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936613:414,881...710,210 JBrowse link
G Gata3 GATA binding protein 3 ISO OMIM NCBI chrNW_004936484:6,780,692...6,800,883 JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:8,748,050...8,775,234 JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936520:9,716,178...9,725,949 JBrowse link
G Il15ra interleukin 15 receptor subunit alpha ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:8,590,945...8,623,478 JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:8,514,333...8,555,392 JBrowse link
G Itga8 integrin subunit alpha 8 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936574:5,985,181...6,155,067 JBrowse link
G Itih2 inter-alpha-trypsin inhibitor heavy chain 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:7,064,836...7,101,872 JBrowse link
G Itih5 inter-alpha-trypsin inhibitor heavy chain 5 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:7,123,022...7,207,166 JBrowse link
G Kin Kin17 DNA and RNA binding protein ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:7,031,160...7,058,696 JBrowse link
G LOC101955357 uncharacterized LOC101955357 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936862:405,205...413,920 JBrowse link
G LOC101955652 protein MCM10 homolog ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936862:423,220...468,574 JBrowse link
G LOC101956249 optineurin ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936862:488,591...516,819 JBrowse link
G Meig1 meiosis/spermiogenesis associated 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936613:1,508,975...1,513,769 JBrowse link
G Mindy3 MINDY lysine 48 deubiquitinase 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936574:6,205,419...6,296,385 JBrowse link
G Net1 neuroepithelial cell transforming 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:9,027,515...9,056,571 JBrowse link
G Nmt2 N-myristoyltransferase 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936574:5,653,153...5,698,027 JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936520:8,909,509...8,950,960 JBrowse link
G Nudt5 nudix hydrolase 5 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:3,148,955...3,169,527 JBrowse link
G Olah oleoyl-ACP hydrolase ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936613:1,541,001...1,570,882 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_004936484:8,356,523...8,434,529 JBrowse link
G Prkcq protein kinase C theta ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:8,048,239...8,166,058 JBrowse link
G Proser2 proline and serine rich 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:3,423,530...3,435,505 JBrowse link
G Prpf18 pre-mRNA processing factor 18 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936613:364,492...401,402 JBrowse link
G Pter phosphotriesterase related ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936520:10,666,443...10,727,562 JBrowse link
G Rbm17 RNA binding motif protein 17 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:8,457,469...8,478,030 JBrowse link
G Rpp38 ribonuclease P/MRP subunit p38 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936574:5,648,696...5,653,030 JBrowse link
G Rsu1 Ras suppressor protein 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936520:10,419,405...10,602,820 JBrowse link
G Sec61a2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:3,171,444...3,204,726 JBrowse link
G Sephs1 selenophosphate synthetase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936613:108,331...134,727 JBrowse link
G Sfmbt2 Scm like with four mbt domains 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:7,344,144...7,558,341 JBrowse link
G Slc39a12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936520:9,380,723...9,444,146 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_004936520:9,869,166...9,990,205 JBrowse link
G Stam signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936520:9,627,674...9,689,658 JBrowse link
G Suv39h2 suppressor of variegation 3-9 homolog 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936613:1,443,663...1,467,776 JBrowse link
G Taf3 TATA-box binding protein associated factor 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:6,834,935...7,002,167 JBrowse link
G Tasor2 transcription activation suppressor family member 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:8,776,232...8,842,265 JBrowse link
G Trdmt1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936520:10,104,050...10,122,057 JBrowse link
G Tubal3 tubulin alpha like 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:9,066,097...9,073,049 JBrowse link
G Upf2 UPF2 regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:3,266,196...3,381,511 JBrowse link
G Usp6nl USP6 N-terminal like ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:3,635,966...3,802,906 JBrowse link
G Vim vimentin ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chrNW_004936520:10,051,692...10,059,324 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_004936484:17,012,403...17,049,519 JBrowse link
G Tbce tubulin folding cofactor E ISO OMIM NCBI chrNW_004936484:17,048,187...17,097,414 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_004936536:8,574,064...8,599,446 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_004936638:1,365,457...1,482,497 JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Parathyroid adenoma, somatic
ClinVar Annotator: match by term: Parathyroid adenomas
ClinVar PMID:9241276, PMID:9820618, PMID:12016472, PMID:20231234, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chrNW_004936599:4,504,489...4,510,085 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_004936694:1,958,152...1,993,373 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_004936638:1,365,457...1,482,497 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_004936638:1,424,641...1,434,266 JBrowse link
G Cdc73 cell division cycle 73 ISO OMIM NCBI chrNW_004936638:1,365,457...1,482,497 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_004936638:1,365,457...1,482,497 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_004936473:29,999,542...30,034,610 JBrowse link
G Pth parathyroid hormone ISO protein:increased expression:serum (human) RGD PMID:23534747 RGD:7242410 NCBI chrNW_004936528:5,081,569...5,084,030 JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: :(rs1544410),(rs7975232),(rs731236)(human) RGD PMID:9070272 RGD:13432057 NCBI chrNW_004936512:5,741,836...5,800,999 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_004936536:8,574,064...8,599,446 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_004936638:1,365,457...1,482,497 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_004936587:4,573,166...4,578,480 JBrowse link
G Gpr19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:25741868 NCBI chrNW_004936587:4,596,231...4,633,792 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_004936599:4,504,489...4,510,085 JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:30311386 NCBI chrNW_004936482:16,804,129...16,853,539 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_004936528:5,081,569...5,084,030 JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: :(rs1544410),(rs7975232),(rs731236)(human) RGD PMID:9070272 RGD:13432057 NCBI chrNW_004936512:5,741,836...5,800,999 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_004936528:5,081,569...5,084,030 JBrowse link
secondary hyperparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp5 acid phosphatase 5, tartrate resistant ISO CTD Direct Evidence: marker/mechanism CTD PMID:21985997, PMID:22373954 NCBI chrNW_004936659:1,598,252...1,642,615 JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:22373954 NCBI chrNW_004936474:7,209,196...7,229,899 JBrowse link
G Casr calcium sensing receptor severity ISO protein:decreased expression:parathyroid gland (human)
associated with Kidney Failure, Chronic;DNA:missense mutations:cds:p.R990G, p.Q1011E (human)
RGD PMID:11044218, PMID:19640368 RGD:7205505, RGD:7205664 NCBI chrNW_004936536:8,574,064...8,599,446 JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21350317 NCBI chrNW_004936740:885,855...888,854 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_004936487:15,467,165...15,499,180 JBrowse link
G Kl klotho ISO associated with Uremia;mRNA,protein:increased expression:parathyroid gland: RGD PMID:20631679 RGD:10403078 NCBI chrNW_004936472:27,604,681...27,649,613 JBrowse link
G Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 ISO associated with Kidney Failure, Chronic RGD PMID:19770516 RGD:8693427 NCBI chrNW_004936659:309,530...321,294 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_004936481:3,821,564...3,828,086 JBrowse link
G Pth parathyroid hormone treatment ISO CTD Direct Evidence: marker/mechanism
associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human)
associated with Uremia
associated with Kidney Failure, Chronic
associated with Renal Insufficiency, Chronic; DNA:snp:exon:g.350C>A (rs6256) (human)
CTD
RGD
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_004936528:5,081,569...5,084,030 JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b treatment ISO associated with Kidney Failure, Chronic RGD PMID:22156488 RGD:7205487 NCBI chrNW_004936470:27,571,263...27,598,725 JBrowse link
G Vdr vitamin D receptor treatment ISO associated with Kidney Failure, Chronic RGD PMID:8807569 RGD:8158085 NCBI chrNW_004936512:5,741,836...5,800,999 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_004936619:3,662,567...3,670,470 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_004936527:345,237...359,877 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_004936619:3,662,567...3,670,470 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11962
    disease of anatomical entity 11526
      endocrine system disease 3957
        parathyroid gland disease 167
          Parathyroid Neoplasms + 8
          hyperparathyroidism + 30
          hypoparathyroidism + 138
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.