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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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12223415 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,130...101,780,369
JBrowse link
G SIX1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chr14:60,643,421...60,649,489
Ensembl chr14:60,643,421...60,658,259
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 IAGP ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1
ClinVar Annotator: match by term: HYPOPARATHYROIDISM, AUTOSOMAL DOMINANT
ClinVar
OMIM
PMID:1706284, PMID:7874174, PMID:8636323, PMID:8698326, PMID:8702647, PMID:8733126, PMID:8813042, PMID:9253358, PMID:9661634, PMID:9920108, PMID:10023897, PMID:10217111, PMID:10487661, PMID:10770217, PMID:10912749, PMID:11134112, PMID:11136551, PMID:11152759, PMID:11161843, PMID:11248745, PMID:11580999, PMID:11701698, PMID:11733622, PMID:11807402, PMID:12018449, PMID:12040821, PMID:12050233, PMID:12052452, PMID:12067826, PMID:12107202, PMID:12191970, PMID:12239240, PMID:12241879, PMID:12574188, PMID:12574201, PMID:12733714, PMID:12915654, PMID:14508624, PMID:14519094, PMID:14997007, PMID:15531522, PMID:15598778, PMID:15864123, PMID:15879434, PMID:16497624, PMID:16608894, PMID:17018660, PMID:17039419, 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:20668040, PMID:21414629, PMID:21521328, PMID:21645025, PMID:22024717, PMID:22192860, PMID:22422767, PMID:22789683, PMID:24033266, PMID:24133354, PMID:24297799, PMID:24823460, PMID:25137426, PMID:25292184, PMID:25326635, PMID:25705702, PMID:25741868, PMID:26107257, PMID:26166472, PMID:26467025, PMID:26646938, PMID:27157104, PMID:27957351, PMID:28492532, PMID:29846619 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,683...122,291,629
Ensembl chr 3:122,183,683...122,291,629
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 IAGP
EXP
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11152759, PMID:12107202, PMID:12191970, PMID:12241879, PMID:15005845, PMID:17048213, PMID:25741868 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,683...122,291,629
Ensembl chr 3:122,183,683...122,291,629
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 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr22:21,632,121...21,637,329
Ensembl chr22:21,632,716...21,637,329
JBrowse link
G GGTLC2 gamma-glutamyltransferase light chain 2 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr22:22,644,620...22,647,898
Ensembl chr22:22,644,475...22,647,903
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,754,500...21,867,680
Ensembl chr22:21,754,500...21,867,680
JBrowse link
G MIR130B microRNA 130b IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr22:21,653,304...21,653,385
Ensembl chr22:21,653,304...21,653,385
JBrowse link
G PPIL2 peptidylprolyl isomerase like 2 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr22:21,666,010...21,700,015
Ensembl chr22:21,666,009...21,700,015
JBrowse link
G PPM1F protein phosphatase, Mg2+/Mn2+ dependent 1F IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr22:21,919,419...21,952,875
Ensembl chr22:21,919,425...21,952,848
JBrowse link
G PPM1F-AS1 PPM1F antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr22:21,938,237...21,943,434 JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr22:22,547,701...22,559,294
Ensembl chr22:22,547,701...22,559,361
JBrowse link
G RIMBP3C RIMS binding protein 3C IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr22:21,545,666...21,551,461
Ensembl chr22:21,545,357...21,551,461
JBrowse link
G SDF2L1 stromal cell derived factor 2 like 1 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr22:21,642,302...21,644,299
Ensembl chr22:21,642,302...21,644,299
JBrowse link
G TMEM191C transmembrane protein 191C IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr22:21,467,170...21,469,935
Ensembl chr22:21,466,423...21,471,269
JBrowse link
G TOP3B DNA topoisomerase III beta IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr22:21,957,025...21,982,787
Ensembl chr22:21,957,025...21,982,813
Ensembl chr22:21,957,025...21,982,813
JBrowse link
G UBE2L3 ubiquitin conjugating enzyme E2 L3 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr22:21,549,447...21,624,034
Ensembl chr22:21,549,447...21,624,034
JBrowse link
G VPREB1 V-set pre-B cell surrogate light chain 1 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr22:22,244,786...22,245,515
Ensembl chr22:22,244,780...22,245,515
JBrowse link
G YDJC YdjC chitooligosaccharide deacetylase homolog IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr22:21,628,089...21,630,022
Ensembl chr22:21,628,089...21,630,064
JBrowse link
G YPEL1 yippee like 1 IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr22:21,697,536...21,735,794
Ensembl chr22:21,697,536...21,735,794
JBrowse link
G ZNF280A zinc finger protein 280A IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr22:22,513,736...22,520,270
Ensembl chr22:22,513,736...22,520,270
JBrowse link
G ZNF280B zinc finger protein 280B IAGP ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr22:22,484,421...22,509,161
Ensembl chr22:22,484,421...22,508,742
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 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:20,965,172...20,981,358
Ensembl chr22:20,965,108...20,981,360
JBrowse link
G ALDH1A2 aldehyde dehydrogenase 1 family member A2 ISO
ISS
OMIM:188400 MouseDO PMID:12563036 RGD:734550 NCBI chr15:57,953,429...58,065,711
Ensembl chr15:57,953,424...58,497,866
JBrowse link
G ARVCF ARVCF delta catenin family member IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532, PMID:32581362, PMID:9126485 RGD:1578806 NCBI chr22:19,966,727...20,016,823
Ensembl chr22:19,969,896...20,016,823
JBrowse link
G BCR BCR activator of RhoGEF and GTPase IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037
JBrowse link
G C22orf39 chromosome 22 open reading frame 39 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr22:19,440,886...19,447,711
Ensembl chr22:19,351,368...19,448,232
JBrowse link
G CCDC116 coiled-coil domain containing 116 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:21,632,121...21,637,329
Ensembl chr22:21,632,716...21,637,329
JBrowse link
G CDC45 cell division cycle 45 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr22:19,479,294...19,520,612
Ensembl chr22:19,479,457...19,520,612
JBrowse link
G CHRD chordin ISS OMIM:188400 MouseDO NCBI chr 3:184,380,073...184,390,739
Ensembl chr 3:184,380,073...184,390,736
JBrowse link
G CLDN5 claudin 5 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr22:19,523,024...19,525,337
Ensembl chr22:19,523,024...19,527,545
JBrowse link
G CLTCL1 clathrin heavy chain like 1 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr22:19,179,473...19,291,719
Ensembl chr22:19,179,473...19,291,719
JBrowse link
G COMT catechol-O-methyltransferase EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:8886163, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,733...19,969,975
Ensembl chr22:19,941,733...19,969,975
JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:16399080, PMID:32581362 NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747
JBrowse link
G DGCR DiGeorge syndrome chromosome region EXP CTD Direct Evidence: marker/mechanism CTD
G DGCR2 DiGeorge syndrome critical region gene 2 EXP
IAGP
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 chr22:19,036,286...19,122,454
Ensembl chr22:19,036,282...19,122,454
JBrowse link
G DGCR6 DiGeorge syndrome critical region gene 6 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:32581362 NCBI chr22:18,906,320...18,912,088
Ensembl chr22:18,906,028...18,914,238
JBrowse link
G DGCR6L DiGeorge syndrome critical region gene 6 like IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:20,314,238...20,320,060
Ensembl chr22:20,314,238...20,320,080
JBrowse link
G DGCR8 DGCR8 microprocessor complex subunit EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:32581362 NCBI chr22:20,080,241...20,111,872
Ensembl chr22:20,080,232...20,111,877
JBrowse link
G DICER1 dicer 1, ribonuclease III ISS OMIM:188400 MouseDO NCBI chr14:95,086,228...95,158,263
Ensembl chr14:95,086,228...95,158,010
JBrowse link
G DOCK1 dedicator of cytokinesis 1 ISS OMIM:188400 MouseDO NCBI chr10:126,905,428...127,452,517
Ensembl chr10:126,905,409...127,452,517
JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP RGD PMID:8644734 RGD:1580898 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
JBrowse link
G DVL1P1 dishevelled segment polarity protein 1 pseudogene 1 IAGP RGD PMID:8644734 RGD:1580898 NCBI chr22:19,253,131...19,253,469 JBrowse link
G ESS2 ess-2 splicing factor homolog EXP
IAGP
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 chr22:19,130,279...19,144,726
Ensembl chr22:19,130,279...19,144,684
JBrowse link
G FAM230A family with sequence similarity 230 member A IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:18,421,384...18,500,594
Ensembl chr22:18,422,244...18,500,594
JBrowse link
G FGF8 fibroblast growth factor 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16399080 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,130...101,780,369
JBrowse link
G FOXN1 forkhead box N1 ISS OMIM:188400 MouseDO NCBI chr17:28,506,211...28,538,900
Ensembl chr17:28,506,243...28,538,896
JBrowse link
G GGT2 gamma-glutamyltransferase 2 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:21,207,972...21,283,023
Ensembl chr22:21,207,973...21,227,637
JBrowse link
G GGTLC2 gamma-glutamyltransferase light chain 2 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:22,644,620...22,647,898
Ensembl chr22:22,644,475...22,647,903
JBrowse link
G GGTLC3 gamma-glutamyltransferase light chain family member 3 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:18,516,335...18,518,165
Ensembl chr22:18,516,344...18,518,161
JBrowse link
G GNAZ G protein subunit alpha z IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:23,070,519...23,125,037
Ensembl chr22:23,070,519...23,125,032
JBrowse link
G GNB1L G protein subunit beta 1 like IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr22:19,783,223...19,854,874
Ensembl chr22:19,783,223...19,854,939
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G GSC2 goosecoid homeobox 2 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr22:19,146,993...19,150,292
Ensembl chr22:19,146,993...19,150,292
Ensembl chr22:19,146,993...19,150,292
JBrowse link
G HIC2 HIC ZBTB transcriptional repressor 2 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:21,417,371...21,451,463
Ensembl chr22:21,417,371...21,451,463
JBrowse link
G HIRA histone cell cycle regulator IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
JBrowse link
G HOXA3 homeobox A3 ISS OMIM:188400 MouseDO NCBI chr 7:27,107,010...27,152,583
Ensembl chr 7:27,106,184...27,152,581
JBrowse link
G IGLC1 immunoglobulin lambda constant 1 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:22,895,375...22,895,694
Ensembl chr22:22,895,375...22,895,834
JBrowse link
G IGLL5 immunoglobulin lambda like polypeptide 5 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:22,887,816...22,896,111
Ensembl chr22:22,887,780...22,896,111
JBrowse link
G KAT6A lysine acetyltransferase 6A ISO
ISS
OMIM:188400 MouseDO PMID:22921202 RGD:9590333 NCBI chr 8:41,929,479...42,051,988
Ensembl chr 8:41,929,479...42,051,994
JBrowse link
G KLHL22 kelch like family member 22 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:20,441,519...20,497,305
Ensembl chr22:20,441,519...20,495,844
JBrowse link
G LOC110120888 VISTA enhancer hs515 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532 NCBI chr22:19,761,833...19,762,532 JBrowse link
G LOC112694764 Sharpr-MPRA regulatory region 10527 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532 NCBI chr22:19,947,746...19,948,040 JBrowse link
G LOC112694766 Sharpr-MPRA regulatory region 2516 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532 NCBI chr22:19,951,646...19,951,940 JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,754,500...21,867,680
Ensembl chr22:21,754,500...21,867,680
JBrowse link
G MED15 mediator complex subunit 15 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:20,507,582...20,587,621
Ensembl chr22:20,495,913...20,587,632
JBrowse link
G MICAL3 microtubule associated monooxygenase, calponin and LIM domain containing 3 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:17,787,649...18,024,561
Ensembl chr22:17,787,649...18,024,561
JBrowse link
G MIR130B microRNA 130b IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:21,653,304...21,653,385
Ensembl chr22:21,653,304...21,653,385
JBrowse link
G MIR4761 microRNA 4761 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532 NCBI chr22:19,963,753...19,963,834
Ensembl chr22:19,963,753...19,963,834
JBrowse link
G MRPL40 mitochondrial ribosomal protein L40 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr22:19,432,545...19,436,078
Ensembl chr22:19,431,902...19,436,075
JBrowse link
G NDST1 N-deacetylase and N-sulfotransferase 1 ISS OMIM:188400 MouseDO NCBI chr 5:150,497,779...150,558,211
Ensembl chr 5:150,485,818...150,558,211
JBrowse link
G P2RX6 purinergic receptor P2X 6 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:21,009,699...21,028,013
Ensembl chr22:21,009,808...21,028,830
JBrowse link
G PEX26 peroxisomal biogenesis factor 26 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,920...18,131,138
JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:20,707,691...20,858,812
Ensembl chr22:20,707,691...20,859,417
JBrowse link
G PLXND1 plexin D1 ISS OMIM:188400 MouseDO NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676
JBrowse link
G PPIL2 peptidylprolyl isomerase like 2 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:21,666,010...21,700,015
Ensembl chr22:21,666,009...21,700,015
JBrowse link
G PPM1F protein phosphatase, Mg2+/Mn2+ dependent 1F IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:21,919,419...21,952,875
Ensembl chr22:21,919,425...21,952,848
JBrowse link
G PPM1F-AS1 PPM1F antisense RNA 1 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:21,938,237...21,943,434 JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:22,547,701...22,559,294
Ensembl chr22:22,547,701...22,559,361
JBrowse link
G PRODH proline dehydrogenase 1 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr22:18,912,781...18,936,553
Ensembl chr22:18,912,777...18,936,553
JBrowse link
G RAB36 RAB36, member RAS oncogene family IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:23,145,298...23,169,285
Ensembl chr22:23,145,326...23,164,350
JBrowse link
G RANBP1 RAN binding protein 1 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:20,116,104...20,127,355
Ensembl chr22:20,115,938...20,127,355
JBrowse link
G RIMBP3 RIMS binding protein 3 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:18,605,815...18,611,919
Ensembl chr22:18,605,815...18,611,919
JBrowse link
G RIMBP3B RIMS binding protein 3B IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:21,383,751...21,389,169
Ensembl chr22:21,383,374...21,389,478
JBrowse link
G RIMBP3C RIMS binding protein 3C IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:21,545,666...21,551,461
Ensembl chr22:21,545,357...21,551,461
JBrowse link
G RSPH14 radial spoke head 14 homolog IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:23,059,408...23,180,048
Ensembl chr22:23,059,415...23,145,021
JBrowse link
G RTL10 retrotransposon Gag like 10 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr22:19,846,146...19,854,874
Ensembl chr22:19,846,138...19,854,896
JBrowse link
G RTN4R reticulon 4 receptor IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:20,241,415...20,268,318
Ensembl chr22:20,241,415...20,283,246
JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,815...20,437,826
Ensembl chr22:20,424,815...20,437,826
JBrowse link
G SDF2L1 stromal cell derived factor 2 like 1 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:21,642,302...21,644,299
Ensembl chr22:21,642,302...21,644,299
JBrowse link
G SEPTIN5 septin 5 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532 NCBI chr22:19,717,220...19,724,774
Ensembl chr22:19,717,220...19,724,772
Ensembl chr22:19,717,220...19,724,772
JBrowse link
G SEPTIN5 septin 5 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr22:19,714,503...19,723,319
Ensembl chr22:19,714,503...19,724,224
JBrowse link
G SERPIND1 serpin family D member 1 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:20,774,113...20,787,720
Ensembl chr22:20,774,113...20,787,720
JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739
JBrowse link
G SLC7A4 solute carrier family 7 member 4 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:21,028,718...21,032,561
Ensembl chr22:21,028,718...21,032,840
JBrowse link
G SNAP29 synaptosome associated protein 29 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:20,859,007...20,891,214
Ensembl chr22:20,859,007...20,891,214
JBrowse link
G TANGO2 transport and golgi organization 2 homolog IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:20,017,000...20,067,164
Ensembl chr22:20,017,014...20,067,164
JBrowse link
G TBX1 T-box transcription factor 1 IAGP
EXP
ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: Catch22
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:11748311, PMID:14585638, PMID:15060116, PMID:15190012, PMID:15355425, PMID:16399080, PMID:17000704, PMID:18375573, PMID:19948535, PMID:21921585, PMID:24826987, PMID:24998776, PMID:25205790, PMID:25516202, PMID:25741868, PMID:26467025, PMID:27879657, PMID:28272434, PMID:28492532, PMID:30007050, PMID:32581362 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISS OMIM:188400 MouseDO NCBI chr 3:30,606,472...30,694,142
Ensembl chr 3:30,606,601...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
G THAP7 THAP domain containing 7 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:20,999,104...21,002,118
Ensembl chr22:20,999,104...21,002,196
JBrowse link
G TMEM191B transmembrane protein 191B IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:18,527,802...18,531,920
Ensembl chr22:18,527,802...18,530,573
JBrowse link
G TMEM191C transmembrane protein 191C IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:21,467,170...21,469,935
Ensembl chr22:21,466,423...21,471,269
JBrowse link
G TOP3B DNA topoisomerase III beta IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:21,957,025...21,982,787
Ensembl chr22:21,957,025...21,982,813
Ensembl chr22:21,957,025...21,982,813
JBrowse link
G TRMT2A tRNA methyltransferase 2 homolog A IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:20,111,872...20,117,254
Ensembl chr22:20,111,875...20,117,392
JBrowse link
G TSSK2 testis specific serine kinase 2 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr22:19,131,308...19,132,622
Ensembl chr22:19,131,308...19,132,622
JBrowse link
G TUBA8 tubulin alpha 8 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:18,110,809...18,131,732
Ensembl chr22:18,110,331...18,146,554
JBrowse link
G TXNRD2 thioredoxin reductase 2 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820
JBrowse link
G UBE2L3 ubiquitin conjugating enzyme E2 L3 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:21,549,447...21,624,034
Ensembl chr22:21,549,447...21,624,034
JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362, PMID:10024240 RGD:1580803 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
JBrowse link
G USP18 ubiquitin specific peptidase 18 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:18,149,855...18,177,397
Ensembl chr22:18,150,170...18,177,397
JBrowse link
G USP41 ubiquitin specific peptidase 41 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:20,363,621...20,390,758
Ensembl chr22:20,350,578...20,390,758
JBrowse link
G VEGFA vascular endothelial growth factor A ISS OMIM:188400 MouseDO NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G VPREB1 V-set pre-B cell surrogate light chain 1 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:22,244,786...22,245,515
Ensembl chr22:22,244,780...22,245,515
JBrowse link
G YDJC YdjC chitooligosaccharide deacetylase homolog IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:21,628,089...21,630,022
Ensembl chr22:21,628,089...21,630,064
JBrowse link
G YPEL1 yippee like 1 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:21,697,536...21,735,794
Ensembl chr22:21,697,536...21,735,794
JBrowse link
G ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:20,131,804...20,148,007
Ensembl chr22:20,129,456...20,148,007
JBrowse link
G ZNF280A zinc finger protein 280A IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:22,513,736...22,520,270
Ensembl chr22:22,513,736...22,520,270
JBrowse link
G ZNF280B zinc finger protein 280B IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:22,484,421...22,509,161
Ensembl chr22:22,484,421...22,508,742
JBrowse link
G ZNF366 zinc finger protein 366 ISS OMIM:188400 MouseDO NCBI chr 5:72,439,903...72,507,410
Ensembl chr 5:72,439,903...72,507,410
JBrowse link
G ZNF74 zinc finger protein 74 IAGP ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr22:20,394,151...20,408,455
Ensembl chr22:20,394,115...20,408,461
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 IAGP ClinVar Annotator: match by term: Cystic parathyroid adenoma ClinVar PMID:12434154 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,958...193,254,815
Ensembl chr 1:193,121,958...193,254,815
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 IAGP
EXP
ClinVar Annotator: match by term: Hypoparathyroidism familial isolated
ClinVar Annotator: match by term: Familial isolated hypoparathyroidism
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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 chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,683...122,291,629
Ensembl chr 3:122,183,683...122,291,629
JBrowse link
G GCM2 glial cells missing transcription factor 2 IAGP 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 chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041
JBrowse link
G LOC107988023 PTH promoter region IAGP ClinVar Annotator: match by term: Familial isolated hypoparathyroidism ClinVar NCBI chr11:13,495,930...13,497,003 JBrowse link
G PTH parathyroid hormone IAGP
EXP
DNA:missense mutation:cds:p.C18R (human)
ClinVar Annotator: match by term: Familial isolated hypoparathyroidism
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypoparathyroidism familial isolated
ClinVar
CTD
PMID:1302009, PMID:24033266, PMID:25741868, PMID:28492532, PMID:2212001 RGD:1598941 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
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 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, familial isolated 1 OMIM
ClinVar
PMID:2212001, PMID:3005800, PMID:10523031, PMID:18056632 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
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 IAGP ClinVar Annotator: match by term: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2 OMIM
ClinVar
PMID:11602629, PMID:15728199, PMID:15863676, PMID:20190276 NCBI chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041
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
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:9011580, PMID:11589681, PMID:12671052 RGD:734698 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,683...122,291,629
Ensembl chr 3:122,183,683...122,291,629
JBrowse link
G CCND1 cyclin D1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21541686 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G CDC73 cell division cycle 73 ISS
IEA
OMIM:145000 | OMIM:145001 | OMIM:610071 MouseDO NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,958...193,254,815
Ensembl chr 1:193,121,958...193,254,815
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO RGD PMID:11416220 RGD:734871 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
JBrowse link
G MEN1 menin 1 IAGP
ISS
DNA:SNPs: :multiple
ClinVar Annotator: match by term: Hyperparathyroidism
OMIM:145000 | OMIM:145001 | OMIM:610071
ClinVar
MouseDO
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, PMID:16563611 RGD:2317347 NCBI chr11:64,803,514...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor IEP mRNA:increased expression:parathyroid gland (human) RGD PMID:17047023 RGD:7207778 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G PTH1R parathyroid hormone 1 receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:11014383 NCBI chr 3:46,877,689...46,903,799
Ensembl chr 3:46,877,721...46,903,799
JBrowse link
G TRPV6 transient receptor potential cation channel subfamily V member 6 IAGP ClinVar Annotator: match by term: Hyperparathyroidism ClinVar PMID:25741868, PMID:30144375 NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745
JBrowse link
Hyperparathyroidism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT2 beta-1,3-galactosyltransferase 2 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr 1:193,178,730...193,186,613
Ensembl chr 1:193,178,730...193,186,613
JBrowse link
G CDC73 cell division cycle 73 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar
OMIM
PMID:12434154, PMID:12960210, PMID:14585940, PMID:14715834, PMID:15531515, PMID:16061557, PMID:17065424, PMID:20052758, PMID:21681106, PMID:25741868, PMID:28492532, PMID:28774260 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,958...193,254,815
Ensembl chr 1:193,121,958...193,254,815
JBrowse link
G GLRX2 glutaredoxin 2 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr 1:193,096,465...193,106,114
Ensembl chr 1:193,090,866...193,106,114
JBrowse link
G LINC01031 long intergenic non-protein coding RNA 1031 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr 1:193,304,745...193,365,953
Ensembl chr 1:193,304,745...193,365,953
JBrowse link
G LOC111556116 HNF1 motif-containing MPRA enhancer 26 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr 1:192,701,091...192,701,235 JBrowse link
G MEN1 menin 1 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1
ClinVar Annotator: match by term: Familial isolated hyperparathyroidism
ClinVar PMID:15292357, PMID:25741868 NCBI chr11:64,803,514...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G MIR1278 microRNA 1278 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr 1:193,136,503...193,136,583
Ensembl chr 1:193,136,503...193,136,583
JBrowse link
G MIR4426 microRNA 4426 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr 1:192,716,328...192,716,390
Ensembl chr 1:192,716,328...192,716,390
JBrowse link
G RGS1 regulator of G protein signaling 1 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr 1:192,575,773...192,580,024
Ensembl chr 1:192,575,763...192,580,024
JBrowse link
G RGS13 regulator of G protein signaling 13 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr 1:192,636,147...192,660,311
Ensembl chr 1:192,636,138...192,660,306
JBrowse link
G RGS18 regulator of G protein signaling 18 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr 1:192,158,462...192,187,172
Ensembl chr 1:192,158,462...192,185,815
JBrowse link
G RGS2 regulator of G protein signaling 2 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr 1:192,809,039...192,812,275
Ensembl chr 1:192,809,039...192,812,275
JBrowse link
G RGS2-AS1 RSG2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr 1:192,935,744...192,948,257 JBrowse link
G RGS21 regulator of G protein signaling 21 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr 1:192,316,992...192,367,285
Ensembl chr 1:192,316,992...192,367,285
JBrowse link
G RO60 Ro60, Y RNA binding protein IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr 1:193,059,454...193,091,777
Ensembl chr 1:193,059,454...193,091,777
Ensembl chr 1:193,059,454...193,091,777
JBrowse link
G SCARNA18B small Cajal body-specific RNA 18B IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr 1:193,057,281...193,057,415
Ensembl chr 1:193,057,281...193,057,415
JBrowse link
G UCHL5 ubiquitin C-terminal hydrolase L5 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr 1:193,012,254...193,060,140
Ensembl chr 1:193,012,250...193,060,080
JBrowse link
Hyperparathyroidism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT2 beta-1,3-galactosyltransferase 2 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 2 ClinVar PMID:25637381 NCBI chr 1:193,178,730...193,186,613
Ensembl chr 1:193,178,730...193,186,613
JBrowse link
G CDC73 cell division cycle 73 IAGP ClinVar Annotator: match by term: HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY
ClinVar Annotator: match by term: Hyperparathyroidism 2
ClinVar
OMIM
PMID:12434154, PMID:12960210, PMID:14585940, PMID:14715834, PMID:15070940, PMID:15613436, PMID:17065424, PMID:20052758, PMID:25637381, PMID:25741868, PMID:28492532 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,958...193,254,815
Ensembl chr 1:193,121,958...193,254,815
JBrowse link
Hyperparathyroidism 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEN1 menin 1 IAGP ClinVar Annotator: match by term: Familial isolated hyperparathyroidism ClinVar PMID:25741868 NCBI chr11:64,803,514...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
Hyperparathyroidism 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCM2 glial cells missing transcription factor 2 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 4 ClinVar
OMIM
PMID:27745835 NCBI chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041
JBrowse link
Hyperparathyroidism, Neonatal Severe Primary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASR calcium sensing receptor IAGP
EXP
ClinVar Annotator: match by term: Neonatal severe hyperparathyroidism
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:791660, PMID:1706284, PMID:2211966, PMID:5013415, PMID:6543841, PMID:7054696, PMID:7717399, PMID:7791841, PMID:7916660, PMID:8636323, PMID:8675635, PMID:8702647, PMID:9011580, PMID:9109436, PMID:9253359, PMID:10023897, PMID:10217111, PMID:10912749, PMID:11161843, PMID:11231970, PMID:11248745, PMID:11580999, PMID:11733622, PMID:11807402, PMID:12018449, PMID:12040821, PMID:12052452, PMID:12095982, PMID:12114500, PMID:12239240, PMID:12469911, PMID:12574201, PMID:14508624, PMID:14997007, PMID:15292296, PMID:15531522, PMID:15572418, PMID:15598778, PMID:15751724, PMID:15864123, PMID:15879434, PMID:16497624, PMID:16642557, PMID:17018660, PMID:17117288, PMID:17284438, PMID:17309124, PMID:17320849, PMID:17332735, PMID:17555508, PMID:17698911, PMID:18219222, PMID:18328986, PMID:18680227, PMID:18751724, PMID:18756473, PMID:19423559, PMID:19694204, PMID:19759318, PMID:20164288, PMID:20290361, PMID:20602573, PMID:21289269, PMID:21414629, PMID:21521328, PMID:21645025, PMID:22024717, PMID:22192860, PMID:22422767, PMID:22798347, PMID:23077345, PMID:23764372, PMID:23966241, PMID:24033266, PMID:24133354, PMID:24203066, PMID:24854525, PMID:25091521, PMID:25292184, PMID:25705702, PMID:25741868, PMID:26107257, PMID:26161261, PMID:26166472, PMID:26467025, PMID:26646938, PMID:27157104, PMID:27434672, PMID:27957351, PMID:28492532, PMID:29846619 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,683...122,291,629
Ensembl chr 3:122,183,683...122,291,629
JBrowse link
hypoparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASR calcium sensing receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:11701698 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,683...122,291,629
Ensembl chr 3:122,183,683...122,291,629
JBrowse link
G GATA3 GATA binding protein 3 IAGP HDR Syndrome/Barakat Syndrome, OMIM:146255 DNA:point_mutation, deletion, deletion:CDS:Arg277Ter, 49bpDELnt465-513, 12bpDELnt946-957 RGD PMID:10935639 RGD:1358706 NCBI chr10:8,045,420...8,075,198
Ensembl chr10:8,045,378...8,075,198
JBrowse link
G GCM2 glial cells missing transcription factor 2 ISS OMIM:146200 | OMIM:307700 MouseDO NCBI chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041
JBrowse link
G TBCE tubulin folding cofactor E IAGP hypoparathyroidism-retardation-dysmorphism syndrome, OMIM:241410 RGD PMID:12389028 RGD:1599303 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
Ensembl chr 1:235,367,360...235,452,443
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 IAGP DNA:snp:intron:IVS2+1G>C (human) RGD PMID:1302009 RGD:1598943 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
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 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:15,075,475...15,088,776
Ensembl chr10:15,075,475...15,088,776
JBrowse link
G AKR1C1 aldo-keto reductase family 1 member C1 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:4,963,415...4,983,283
Ensembl chr10:4,963,253...4,983,283
JBrowse link
G AKR1C2 aldo-keto reductase family 1 member C2 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:4,987,775...5,018,000
Ensembl chr10:4,987,400...5,018,031
JBrowse link
G AKR1C3 aldo-keto reductase family 1 member C3 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:5,048,781...5,107,686
Ensembl chr10:5,035,354...5,107,686
JBrowse link
G AKR1C4 aldo-keto reductase family 1 member C4 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:5,196,837...5,218,949
Ensembl chr10:5,195,462...5,218,949
JBrowse link
G AKR1E2 aldo-keto reductase family 1 member E2 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:4,824,554...4,908,421
Ensembl chr10:4,786,629...4,848,062
JBrowse link
G ANKRD16 ankyrin repeat domain 16 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:5,861,616...5,889,893
Ensembl chr10:5,861,616...5,889,906
JBrowse link
G ARL5B ADP ribosylation factor like GTPase 5B IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:18,659,335...18,681,639
Ensembl chr10:18,659,431...18,681,639
JBrowse link
G ASB13 ankyrin repeat and SOCS box containing 13 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:5,638,867...5,666,595
Ensembl chr10:5,638,867...5,666,595
JBrowse link
G ATP5F1C ATP synthase F1 subunit gamma IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:7,788,159...7,807,801
Ensembl chr10:7,788,147...7,807,815
JBrowse link
G BEND7 BEN domain containing 7 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:13,438,481...13,529,014
Ensembl chr10:13,438,484...13,528,974
JBrowse link
G C1QL3 complement C1q like 3 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:16,513,734...16,521,879
Ensembl chr10:16,513,734...16,521,879
JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:18,140,424...18,545,881
Ensembl chr10:18,140,677...18,543,557
Ensembl chr10:18,140,677...18,543,557
JBrowse link
G CALML3 calmodulin like 3 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:5,524,961...5,526,771
Ensembl chr10:5,524,961...5,526,771
JBrowse link
G CALML3-AS1 CALML3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:5,514,244...5,526,246
Ensembl chr10:5,510,036...5,526,246
JBrowse link
G CALML5 calmodulin like 5 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:5,498,697...5,499,570
Ensembl chr10:5,498,697...5,499,570
JBrowse link
G CAMK1D calcium/calmodulin dependent protein kinase ID IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:12,349,514...12,835,545
Ensembl chr10:12,349,547...12,835,545
Ensembl chr10:12,349,547...12,835,545
JBrowse link
G CCDC3 coiled-coil domain containing 3 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:12,896,625...13,099,989
Ensembl chr10:12,896,625...13,099,652
JBrowse link
G CDC123 cell division cycle 123 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:12,196,188...12,250,589
Ensembl chr10:12,195,965...12,250,589
JBrowse link
G CDNF cerebral dopamine neurotrophic factor IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:14,819,245...14,838,073
Ensembl chr10:14,819,245...14,838,575
JBrowse link
G CELF2 CUGBP Elav-like family member 2 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:10,462,515...11,336,675
Ensembl chr10:10,798,397...11,336,675
JBrowse link
G CUBN cubilin IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:16,823,966...17,130,492
Ensembl chr10:16,823,966...17,129,811
Ensembl chr10:16,823,966...17,129,811
JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432
JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:12,068,954...12,123,221
Ensembl chr10:12,068,954...12,123,221
JBrowse link
G ECHDC3 enoyl-CoA hydratase domain containing 3 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:11,742,382...11,764,070
Ensembl chr10:11,742,366...11,764,070
JBrowse link
G FAM107B family with sequence similarity 107 member B IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:14,518,557...14,774,897
Ensembl chr10:14,518,557...14,774,897
JBrowse link
G FAM171A1 family with sequence similarity 171 member A1 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:15,211,643...15,374,532
Ensembl chr10:15,211,643...15,371,289
JBrowse link
G FBH1 F-box DNA helicase 1 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:5,889,572...5,937,593
Ensembl chr10:5,890,203...5,937,594
JBrowse link
G FRMD4A FERM domain containing 4A IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:13,638,300...14,330,924
Ensembl chr10:13,643,706...14,462,142
JBrowse link
G GATA3 GATA binding protein 3 IAGP
EXP
ClinVar Annotator: match by term: Barakat syndrome
ClinVar Annotator: match by term: Hypoparathyroidism-deafness-renal disease syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:10935639, PMID:11389161, PMID:15705923, PMID:16912130, PMID:17309062, PMID:18621058, PMID:19248180, PMID:19253381, PMID:20006695, PMID:21834031, PMID:23142663, PMID:23435732, PMID:24033266, PMID:24728327, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30143558 NCBI chr10:8,045,420...8,075,198
Ensembl chr10:8,045,378...8,075,198
JBrowse link
G GDI2 GDP dissociation inhibitor 2 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:5,765,222...5,813,434
Ensembl chr10:5,765,223...5,842,132
JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374
JBrowse link
G HSPA14 heat shock protein family A (Hsp70) member 14 IAGP ClinVar Annotator: match by term: Hypoparathyroidism-deafness-renal disease syndrome ClinVar PMID:25741868 NCBI chr10:14,838,306...14,871,741
Ensembl chr10:14,838,306...14,871,741
Ensembl chr10:14,838,306...14,871,741
JBrowse link
G IL15RA interleukin 15 receptor subunit alpha IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:5,948,897...5,978,741
Ensembl chr10:5,943,639...5,978,187
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
JBrowse link
G ITGA8 integrin subunit alpha 8 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:15,513,954...15,720,329
Ensembl chr10:15,513,954...15,719,922
JBrowse link
G ITIH2 inter-alpha-trypsin inhibitor heavy chain 2 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:7,703,316...7,749,520
Ensembl chr10:7,703,316...7,749,520
JBrowse link
G ITIH5 inter-alpha-trypsin inhibitor heavy chain 5 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:7,559,270...7,666,968
Ensembl chr10:7,559,270...7,666,998
JBrowse link
G KIN Kin17 DNA and RNA binding protein IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:7,750,962...7,787,993
Ensembl chr10:7,750,962...7,787,993
JBrowse link
G MCM10 minichromosome maintenance 10 replication initiation factor IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:13,161,558...13,211,110
Ensembl chr10:13,161,554...13,211,104
JBrowse link
G MEIG1 meiosis/spermiogenesis associated 1 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:14,954,228...14,988,050
Ensembl chr10:14,959,388...14,988,050
JBrowse link
G MINDY3 MINDY lysine 48 deubiquitinase 3 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:15,778,169...15,860,510
Ensembl chr10:15,778,170...15,860,507
JBrowse link
G NET1 neuroepithelial cell transforming 1 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:5,412,557...5,459,056
Ensembl chr10:5,412,557...5,459,056
JBrowse link
G NMT2 N-myristoyltransferase 2 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:15,104,588...15,168,693
Ensembl chr10:15,102,584...15,168,693
JBrowse link
G NSUN6 NOP2/Sun RNA methyltransferase 6 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:18,512,582...18,659,264
Ensembl chr10:18,545,561...18,659,285
JBrowse link
G NUDT5 nudix hydrolase 5 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:12,165,330...12,195,891
Ensembl chr10:12,165,330...12,196,144
JBrowse link
G OLAH oleoyl-ACP hydrolase IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:15,032,224...15,073,853
Ensembl chr10:15,032,227...15,073,852
Ensembl chr10:15,032,227...15,073,852
JBrowse link
G OPTN optineurin IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308
JBrowse link
G PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:6,144,918...6,254,648
Ensembl chr10:6,144,934...6,254,644
JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412
JBrowse link
G PRKCQ protein kinase C theta IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:6,393,038...6,580,646
Ensembl chr10:6,427,143...6,580,301
JBrowse link
G PROSER2 proline and serine rich 2 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:11,823,341...11,872,277
Ensembl chr10:11,823,339...11,872,277
JBrowse link
G PRPF18 pre-mRNA processing factor 18 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:13,586,811...13,645,344
Ensembl chr10:13,586,939...13,630,859
JBrowse link
G PTER phosphotriesterase related IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:16,436,943...16,517,962
Ensembl chr10:16,436,943...16,513,745
JBrowse link
G RBM17 RNA binding motif protein 17 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:6,089,034...6,117,447
Ensembl chr10:6,089,034...6,117,457
JBrowse link
G RPP38 ribonuclease P/MRP subunit p38 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:15,097,217...15,104,257
Ensembl chr10:15,097,180...15,139,818
JBrowse link
G RPP38-DT RPP38 divergent transcript IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:15,095,385...15,097,319
Ensembl chr10:15,095,385...15,097,319
JBrowse link
G RSU1 Ras suppressor protein 1 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:16,590,611...16,817,451
Ensembl chr10:16,590,611...16,817,463
JBrowse link
G SEC61A2 SEC61 translocon subunit alpha 2 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:12,129,641...12,169,958
Ensembl chr10:12,129,637...12,169,961
JBrowse link
G SEPHS1 selenophosphate synthetase 1 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:13,317,428...13,348,293
Ensembl chr10:13,317,428...13,348,298
JBrowse link
G SFMBT2 Scm like with four mbt domains 2 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:7,158,624...7,411,490
Ensembl chr10:7,158,624...7,411,486
JBrowse link
G SLC39A12 solute carrier family 39 member 12 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:17,951,918...18,043,285
Ensembl chr10:17,951,839...18,043,292
JBrowse link
G ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:17,315,414...17,455,966
Ensembl chr10:17,315,421...17,454,595
JBrowse link
G STAM signal transducing adaptor molecule IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:17,644,150...17,716,824
Ensembl chr10:17,644,151...17,716,824
JBrowse link
G SUV39H2 suppressor of variegation 3-9 homolog 2 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:14,878,866...14,904,315
Ensembl chr10:14,878,820...14,904,315
JBrowse link
G TAF3 TATA-box binding protein associated factor 3 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:7,818,505...8,016,631
Ensembl chr10:7,818,505...8,016,631
JBrowse link
G TASOR2 transcription activation suppressor family member 2 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:5,684,759...5,765,779
Ensembl chr10:5,684,838...5,763,740
JBrowse link
G TRDMT1 tRNA aspartic acid methyltransferase 1 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:17,137,336...17,202,066
Ensembl chr10:17,137,336...17,202,054
JBrowse link
G TUBAL3 tubulin alpha like 3 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:5,393,101...5,404,828
Ensembl chr10:5,393,101...5,404,828
JBrowse link
G UCMA upper zone of growth plate and cartilage matrix associated IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:13,221,766...13,234,374
Ensembl chr10:13,221,766...13,234,374
JBrowse link
G UCN3 urocortin 3 IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:5,364,966...5,374,692
Ensembl chr10:5,364,966...5,374,692
JBrowse link
G UPF2 UPF2 regulator of nonsense mediated mRNA decay IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:11,920,022...12,043,170
Ensembl chr10:11,920,022...12,043,170
JBrowse link
G USP6NL USP6 N-terminal like IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:11,453,946...11,611,650
Ensembl chr10:11,453,946...11,611,754
JBrowse link
G VIM vimentin IAGP ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593
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 IAGP ClinVar Annotator: match by term: Hypoparathyroidism retardation dysmorphism syndrome
ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:235,440,654...235,504,481
Ensembl chr 1:235,447,190...235,504,452
JBrowse link
G TBCE tubulin folding cofactor E IAGP
EXP
ClinVar Annotator: match by term: Hypoparathyroidism retardation dysmorphism syndrome
ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:12389028, PMID:16938882, PMID:25097779, PMID:25741868, PMID:26336027, PMID:28492532, PMID:30311386 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
Ensembl chr 1:235,367,360...235,452,443
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 IAGP 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 chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,683...122,291,629
Ensembl chr 3:122,183,683...122,291,629
JBrowse link
G CDC73 cell division cycle 73 IAGP ClinVar Annotator: match by term: Parathyroid adenoma, somatic ClinVar PMID:12434154, PMID:15531515, PMID:16061557, PMID:28492532 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,958...193,254,815
Ensembl chr 1:193,121,958...193,254,815
JBrowse link
G MEN1 menin 1 IAGP 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 chr11:64,803,514...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Parathyroid adenoma ClinVar PMID:22558107, PMID:23514105, PMID:25741868, PMID:25862857, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr16:2,047,804...2,089,491
Ensembl chr16:2,047,967...2,089,491
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 IAGP ClinVar Annotator: match by term: Parathyroid cancer ClinVar PMID:28492532 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,958...193,254,815
Ensembl chr 1:193,121,958...193,254,815
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 IAGP ClinVar Annotator: match by term: Parathyroid carcinoma ClinVar PMID:25444225, PMID:28492532, PMID:29040582 NCBI chr 1:193,178,730...193,186,613
Ensembl chr 1:193,178,730...193,186,613
JBrowse link
G CDC73 cell division cycle 73 IAGP ClinVar Annotator: match by term: Parathyroid carcinoma ClinVar
OMIM
PMID:12434154, PMID:12960210, PMID:14585940, PMID:14715834, PMID:14985403, PMID:15531515, PMID:15613436, PMID:16061557, PMID:16487440, PMID:16728578, PMID:17065424, PMID:17314275, PMID:18755853, PMID:19017757, PMID:19332451, PMID:20052758, PMID:20979880, PMID:21360064, PMID:21652691, PMID:21732217, PMID:22187299, PMID:22703879, PMID:23029104, PMID:23293331, PMID:23757631, PMID:24716902, PMID:24728327, PMID:24823466, PMID:25444225, PMID:25637381, PMID:25741868, PMID:25959515, PMID:28492532, PMID:28870973, PMID:29040582, PMID:29755684, PMID:30262796, PMID:30311386 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,958...193,254,815
Ensembl chr 1:193,121,958...193,254,815
JBrowse link
G MIR1278 microRNA 1278 IAGP ClinVar Annotator: match by term: Parathyroid carcinoma ClinVar PMID:25444225, PMID:28492532, PMID:29040582 NCBI chr 1:193,136,503...193,136,583
Ensembl chr 1:193,136,503...193,136,583
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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,958...193,254,815
Ensembl chr 1:193,121,958...193,254,815
JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Parathyroid gland neoplasm ClinVar PMID:25157968, PMID:26619011, PMID:26822237 NCBI chr 3:41,199,422...41,240,445
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G PTH parathyroid hormone IEP protein:increased expression:serum (human) RGD PMID:23534747 RGD:7242410 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
JBrowse link
G VDR vitamin D receptor susceptibility IAGP DNA:SNPs,haplotype: :(rs1544410),(rs7975232),(rs731236)(human) RGD PMID:9070272 RGD:13432057 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
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 IAGP 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 chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,683...122,291,629
Ensembl chr 3:122,183,683...122,291,629
JBrowse link
G CDC73 cell division cycle 73 IAGP ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:22187299, PMID:23293331, PMID:25959515, PMID:28492532, PMID:30311386 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,958...193,254,815
Ensembl chr 1:193,121,958...193,254,815
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:3328816, PMID:21289244, PMID:25741868, PMID:26762354, PMID:27038812, PMID:27153395, PMID:28492532 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,715,058...12,722,369
JBrowse link
G GPR19 G protein-coupled receptor 19 IAGP ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:25741868 NCBI chr12:12,659,691...12,717,786
Ensembl chr12:12,660,890...12,696,207
JBrowse link
G MEN1 menin 1 IAGP ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:564891, PMID:9215689, PMID:18775714, PMID:22703879, PMID:24997771, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr11:64,803,514...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:30311386 NCBI chr 4:54,229,127...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G PTH parathyroid hormone IEP
IAGP
protein:increased expression:serum (human)
ClinVar Annotator: match by term: Primary hyperparathyroidism
ClinVar PMID:1425431, PMID:18784115, PMID:23447517 RGD:7242421 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
JBrowse link
G VDR vitamin D receptor susceptibility IAGP DNA:SNPs,haplotype: :(rs1544410),(rs7975232),(rs731236)(human) RGD PMID:9070272 RGD:13432057 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
renal osteodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTH parathyroid hormone IEP associated with Kidney Failure, Chronic; protein:decreased expression:serum (human) RGD PMID:18480316 RGD:7242687 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
JBrowse link
secondary hyperparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) treatment ISO RGD PMID:27988213 RGD:13450940 NCBI chr 4:88,090,264...88,231,626
Ensembl chr 4:88,090,150...88,231,628
JBrowse link
G ACP5 acid phosphatase 5, tartrate resistant EXP CTD Direct Evidence: marker/mechanism CTD PMID:21985997, PMID:22373954 NCBI chr19:11,574,660...11,578,983
Ensembl chr19:11,574,660...11,579,008
JBrowse link
G ALPL alkaline phosphatase, biomineralization associated EXP CTD Direct Evidence: marker/mechanism CTD PMID:22373954 NCBI chr 1:21,508,984...21,578,412
Ensembl chr 1:21,509,397...21,578,410
JBrowse link
G CASR calcium sensing receptor severity IAGP
IEP
associated with Kidney Failure, Chronic;DNA:missense mutations:cds:p.R990G, p.Q1011E (human)
protein:decreased expression:parathyroid gland (human)
RGD PMID:19640368, PMID:11044218 RGD:7205505, RGD:7205664 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,683...122,291,629
Ensembl chr 3:122,183,683...122,291,629
JBrowse link
G CRP C-reactive protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:21350317 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G ENG endoglin IEP associated with Renal Insufficiency, Chronic; protein:increased expression:parathyroid gland, vasculature (human) RGD PMID:18398016 RGD:7248778 NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21350317 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G KL klotho ISO associated with Uremia;mRNA,protein:increased expression:parathyroid gland: RGD PMID:20631679 RGD:10403078 NCBI chr13:33,016,063...33,066,143
Ensembl chr13:33,016,423...33,066,143
JBrowse link
G PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 ISO associated with Kidney Failure, Chronic RGD PMID:19770516 RGD:8693427 NCBI chr19:9,835,318...9,849,689
Ensembl chr19:9,835,257...9,849,682
Ensembl chr19:9,835,257...9,849,682
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO
IEP
associated with Uremia
associated with kidney failure, chronic: protein:increased expression:parathyroid gland
RGD PMID:21335517, PMID:21335517 RGD:5135046, RGD:5135046 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,423
JBrowse link
G PTH parathyroid hormone treatment ISO
EXP
IAGP
IEP
IDA
associated with Uremia
CTD Direct Evidence: marker/mechanism
associated with Renal Insufficiency, Chronic; DNA:snp:exon:g.350C>A (rs6256) (human)
associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human)
associated with Kidney Failure, Chronic
CTD PMID:21350317, PMID:22118402, PMID:22373954, PMID:21335517, PMID:12046039, PMID:23121374, PMID:23499504, PMID:23529273 RGD:5135046, RGD:7242750, RGD:7242728, RGD:7242414, RGD:7242411 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b treatment IEP associated with Kidney Failure, Chronic RGD PMID:22156488 RGD:7205487 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
JBrowse link
G VDR vitamin D receptor treatment ISO associated with Kidney Failure, Chronic RGD PMID:8807569 RGD:8158085 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
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 IAGP ClinVar Annotator: match by term: Takao vcf syndrome ClinVar PMID:11748311, PMID:15355425, PMID:18375573, PMID:25741868, PMID:28492532 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
JBrowse link
Transient Neonatal Hyperparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPV6 transient receptor potential cation channel subfamily V member 6 IAGP ClinVar Annotator: match by term: HYPERPARATHYROIDISM, TRANSIENT NEONATAL ClinVar
OMIM
PMID:25741868, PMID:27296226, PMID:28878326, PMID:29258289, PMID:29861107, PMID:30820485 NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745
JBrowse link
velocardiofacial syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRD chordin ISS OMIM:192430 MouseDO NCBI chr 3:184,380,073...184,390,739
Ensembl chr 3:184,380,073...184,390,736
JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein ISS OMIM:192430 MouseDO NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747
JBrowse link
G DGCR2 DiGeorge syndrome critical region gene 2 IEA OMIM:192430 MouseDO NCBI chr22:19,036,286...19,122,454
Ensembl chr22:19,036,282...19,122,454
JBrowse link
G DGCR6 DiGeorge syndrome critical region gene 6 IEA OMIM:192430 MouseDO NCBI chr22:18,906,320...18,912,088
Ensembl chr22:18,906,028...18,914,238
JBrowse link
G DGCR8 DGCR8 microprocessor complex subunit IEA OMIM:192430 MouseDO NCBI chr22:20,080,241...20,111,872
Ensembl chr22:20,080,232...20,111,877
JBrowse link
G EDNRA endothelin receptor type A ISS OMIM:192430 MouseDO NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954
JBrowse link
G ESS2 ess-2 splicing factor homolog IEA OMIM:192430 MouseDO NCBI chr22:19,130,279...19,144,726
Ensembl chr22:19,130,279...19,144,684
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISS OMIM:192430 MouseDO NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,754,500...21,867,680
Ensembl chr22:21,754,500...21,867,680
JBrowse link
G PRICKLE1 prickle planar cell polarity protein 1 ISS OMIM:192430 MouseDO NCBI chr12:42,456,757...42,589,755
Ensembl chr12:42,456,757...42,590,355
JBrowse link
G TBX1 T-box transcription factor 1 IAGP ClinVar Annotator: match by term: Conotruncal anomaly face syndrome/velocardiofacial syndrome
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome
ClinVar Annotator: match by term: Shprintzen syndrome
ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
OMIM
PMID:11748311, PMID:14585638, PMID:15060116, PMID:15355425, PMID:15703190, PMID:16684884, PMID:17273972, PMID:18375573, PMID:19948535, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
JBrowse link
G TRAPPC10 trafficking protein particle complex 10 ISS OMIM:192430 MouseDO NCBI chr21:44,012,309...44,106,552
Ensembl chr21:44,012,309...44,106,552
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    disease of anatomical entity 17349
      endocrine system disease 5127
        parathyroid gland disease 221
          Parathyroid Neoplasms + 9
          hyperparathyroidism + 39
          hypoparathyroidism + 183
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.