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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 chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Six1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
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 ClinVar Annotator: match by OMIM:601198
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 chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
Autosomal Dominant Hypocalcemia, with Bartter Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11152759, PMID:12107202, PMID:12191970, PMID:12241879, PMID:15005845, PMID:17048213, PMID:25741868 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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 chr11:88,092,794...88,100,220
Ensembl chr11:88,095,170...88,098,252
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 chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mir130b microRNA 130b ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,129,773...88,129,854
Ensembl chr11:88,129,773...88,129,854
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 chr11:88,147,342...88,169,968
Ensembl chr11:88,147,377...88,169,968
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 chr11:88,313,709...88,343,726
Ensembl chr11:88,313,709...88,343,627
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 chr  X:106,082,984...106,091,256
Ensembl chr  X:106,083,203...106,085,878
JBrowse link
G Rimbp3 RIMS binding protein 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,033,213...88,039,002
Ensembl chr11:88,033,180...88,038,518
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 chr11:88,122,271...88,124,513
Ensembl chr11:88,122,271...88,124,513
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 chr11:87,975,508...87,982,861
Ensembl chr11:87,975,527...87,977,368
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 chr11:88,346,305...88,374,896
Ensembl chr11:88,346,313...88,374,679
JBrowse link
G Ube2l3 ubiquitin-conjugating enzyme E2L 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,047,186...88,088,477
Ensembl chr11:88,047,832...88,088,476
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 chr11:88,376,256...88,377,133
Ensembl chr11:88,376,256...88,377,133
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 chr11:88,089,142...88,094,254
Ensembl chr11:88,090,921...88,093,516
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 chr11:88,171,401...88,186,000
Ensembl chr11:88,173,890...88,180,542
JBrowse link
G Zfp280b zinc finger protein 280B ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr20:13,566,381...13,581,215
Ensembl chr20:13,567,803...13,581,164
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 chr11:87,364,452...87,380,705
Ensembl chr11:87,366,621...87,380,704
JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 ISO
ISS
OMIM:188400 MouseDO PMID:12563036 RGD:734550 NCBI chr 8:77,640,234...77,719,488
Ensembl chr 8:77,640,222...77,719,489
JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532, PMID:32581362, PMID:9126485 RGD:1578806 NCBI chr11:86,736,125...86,793,795
Ensembl chr11:86,736,142...86,793,791
JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr20:14,421,250...14,546,406
Ensembl chr20:14,421,141...14,545,772
JBrowse link
G Ccdc116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,092,794...88,100,220
Ensembl chr11:88,095,170...88,098,252
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 chr11:86,328,785...86,354,099
Ensembl chr11:86,329,012...86,358,453
JBrowse link
G Chrd chordin ISS OMIM:188400 MouseDO NCBI chr11:83,858,503...83,867,543
Ensembl chr11:83,858,503...83,867,203
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 chr11:86,356,292...86,357,718
Ensembl chr11:86,356,294...86,357,718
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 chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
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 chr11:87,338,606...87,356,644
Ensembl chr11:87,778,312...87,815,043
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 chr11:87,242,441...87,290,806
Ensembl chr11:87,242,522...87,292,955
JBrowse link
G Dgcr6 DiGeorge syndrome critical region gene 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:32581362 NCBI chr11:87,076,205...87,081,306
Ensembl chr11:87,076,381...87,081,950
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 chr11:86,852,682...86,885,233
Ensembl chr11:86,852,711...86,885,224
JBrowse link
G Dicer1 dicer 1 ribonuclease III ISS OMIM:188400 MouseDO NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183
JBrowse link
G Dock1 dedicator of cyto-kinesis 1 ISS OMIM:188400 MouseDO NCBI chr 1:206,900,617...207,414,852
Ensembl chr 1:206,900,617...207,414,843
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO RGD PMID:8644734 RGD:1580898 NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945
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 chr11:87,224,371...87,234,329
Ensembl chr11:87,224,421...87,233,326
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16399080 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Foxn1 forkhead box N1 ISS OMIM:188400 MouseDO NCBI chr10:65,621,142...65,634,666
Ensembl chr10:65,621,257...65,634,666
JBrowse link
G Gnaz G protein subunit alpha z ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr20:14,593,072...14,644,020
Ensembl chr20:14,593,819...14,620,019
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 chr11:86,575,229...86,655,614
Ensembl chr11:86,577,339...86,655,602
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 chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
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 chr11:87,220,618...87,222,606
Ensembl chr11:87,220,618...87,222,606
JBrowse link
G Hic2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,988,213...88,016,825
Ensembl chr11:87,988,213...88,016,825
JBrowse link
G Hira histone cell cycle regulator ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:86,168,196...86,276,430
Ensembl chr11:86,168,196...86,276,430
JBrowse link
G Hoxa3 homeobox A3 ISS OMIM:188400 MouseDO NCBI chr 4:82,137,802...82,181,836
Ensembl chr 4:82,138,683...82,141,385
JBrowse link
G Igll1 immunoglobulin lambda-like polypeptide 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,388,378...88,391,524
Ensembl chr11:88,388,378...88,391,370
JBrowse link
G Kat6a lysine acetyltransferase 6A ISO
ISS
OMIM:188400 MouseDO PMID:22921202 RGD:9590333 NCBI chr16:73,942,669...74,020,750
Ensembl chr16:73,943,455...74,023,005
JBrowse link
G Klhl22 kelch-like family member 22 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,646,489...87,718,808
Ensembl chr11:87,677,966...87,718,826
JBrowse link
G LOC102548901 protein Bop-like ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr12:6,230,524...6,231,398 JBrowse link
G LOC498122 similar to CG15908-PA ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:86,299,210...86,303,453
Ensembl chr11:86,299,210...86,303,453
JBrowse link
G Lztr1 leucine-zipper-like transcription regulator 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,381,638...87,397,849
Ensembl chr11:87,381,899...87,397,498
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,553,868...87,628,631
Ensembl chr11:87,553,868...87,628,502
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 chr 4:153,484,876...153,631,986
Ensembl chr 4:153,484,876...153,593,773
JBrowse link
G Mir130b microRNA 130b ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,129,773...88,129,854
Ensembl chr11:88,129,773...88,129,854
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 chr11:86,276,616...86,282,452
Ensembl chr11:86,276,616...86,282,451
JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISS OMIM:188400 MouseDO NCBI chr18:55,951,497...56,014,107
Ensembl chr18:55,955,389...55,992,885
JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,434,929...87,445,221
Ensembl chr11:87,435,185...87,445,219
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,858,323...87,975,549
Ensembl chr11:87,858,453...87,973,422
JBrowse link
G Plxnd1 plexin D1 ISS OMIM:188400 MouseDO NCBI chr 4:147,854,309...147,894,170
Ensembl chr 4:147,854,309...147,893,992
JBrowse link
G Ppil2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,147,342...88,169,968
Ensembl chr11:88,147,377...88,169,968
JBrowse link
G Ppm1f protein phosphatase, Mg2+/Mn2+ dependent, 1F ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,313,709...88,343,726
Ensembl chr11:88,313,709...88,343,627
JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr  X:106,082,984...106,091,256
Ensembl chr  X:106,083,203...106,085,878
JBrowse link
G Prodh1 proline dehydrogenase 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:87,058,478...87,075,785
Ensembl chr11:87,058,616...87,075,785
JBrowse link
G Rab36 RAB36, member RAS oncogene family ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr20:14,557,485...14,573,939
Ensembl chr20:14,557,740...14,573,519
JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:86,890,585...86,898,818
Ensembl chr11:86,890,585...86,898,818
JBrowse link
G Rimbp3 RIMS binding protein 3 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,033,213...88,039,002
Ensembl chr11:88,033,180...88,038,518
JBrowse link
G Rsph14 radial spoke head 14 homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr20:14,576,983...14,653,236
Ensembl chr20:14,577,166...14,653,038
JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:86,992,665...87,017,091
Ensembl chr11:86,992,399...87,017,115
JBrowse link
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,722,350...87,733,734
Ensembl chr11:87,722,350...87,733,734
JBrowse link
G Sdf2l1 stromal cell-derived factor 2-like 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,122,271...88,124,513
Ensembl chr11:88,122,271...88,124,513
JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:86,516,377...86,522,169
Ensembl chr11:86,512,797...86,522,168
JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,913,814...87,924,880
Ensembl chr11:87,913,806...87,924,816
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 chr11:87,204,248...87,207,265
Ensembl chr11:87,204,175...87,207,264
JBrowse link
G Slc7a4 solute carrier family 7, member 4 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,445,585...87,450,008
Ensembl chr11:87,446,382...87,449,940
JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,827,633...87,858,107
Ensembl chr11:87,827,651...87,858,107
JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:86,793,959...86,840,556
Ensembl chr11:86,797,557...86,840,573
JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: Catch22
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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 chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISS OMIM:188400 MouseDO NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
G Thap7 THAP domain containing 7 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,399,430...87,403,381
Ensembl chr11:87,399,483...87,403,367
JBrowse link
G Tmem191c transmembrane protein 191C ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,975,508...87,982,861
Ensembl chr11:87,975,527...87,977,368
JBrowse link
G Top3b DNA topoisomerase III beta ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,346,305...88,374,896
Ensembl chr11:88,346,313...88,374,679
JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:86,885,671...86,890,482
Ensembl chr11:86,885,626...86,890,390
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 chr11:87,235,058...87,236,413
Ensembl chr11:87,221,613...87,236,445
JBrowse link
G Tuba8 tubulin, alpha 8 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 4:153,774,511...153,791,223
Ensembl chr 4:153,774,486...153,791,328
JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:86,667,994...86,716,063
Ensembl chr11:86,667,997...86,716,254
JBrowse link
G Ube2l3 ubiquitin-conjugating enzyme E2L 3 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,047,186...88,088,477
Ensembl chr11:88,047,832...88,088,476
JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO 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 chr11:86,304,836...86,328,478
Ensembl chr11:86,304,815...86,328,469
JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 4:153,812,312...153,834,374
Ensembl chr 4:153,805,993...153,834,430
JBrowse link
G Vegfa vascular endothelial growth factor A ISS OMIM:188400 MouseDO NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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 chr11:88,376,256...88,377,133
Ensembl chr11:88,376,256...88,377,133
JBrowse link
G Ydjc YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,089,142...88,094,254
Ensembl chr11:88,090,921...88,093,516
JBrowse link
G Ypel1 yippee-like 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,171,401...88,186,000
Ensembl chr11:88,173,890...88,180,542
JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:86,903,122...86,917,261
Ensembl chr11:86,903,122...86,915,715
JBrowse link
G Zfp280b zinc finger protein 280B ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr20:13,566,381...13,581,215
Ensembl chr20:13,567,803...13,581,164
JBrowse link
G Zfp366 zinc finger protein 366 ISS OMIM:188400 MouseDO NCBI chr 2:29,410,169...29,498,661
Ensembl chr 2:29,410,579...29,498,664
JBrowse link
G Zim1 zinc finger, imprinted 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 1:70,244,828...70,268,289
Ensembl chr 1:70,253,650...70,266,809
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 chr13:60,403,771...60,496,511
Ensembl chr13:60,403,771...60,496,511
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 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 chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
G Gcm2 glial cells missing transcription factor 2 ISO ClinVar Annotator: match by OMIM:146200
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 chr17:21,490,402...21,499,516
Ensembl chr17:21,490,402...21,499,516
JBrowse link
G Pth parathyroid hormone ISO DNA:missense mutation:cds:p.C18R (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypoparathyroidism familial isolated
ClinVar Annotator: match by OMIM:146200
CTD
ClinVar
PMID:1302009, PMID:24033266, PMID:25741868, PMID:28492532, PMID:2212001 RGD:1598941 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
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 ClinVar Annotator: match by term: Hypoparathyroidism, familial isolated 1 OMIM
ClinVar
PMID:2212001, PMID:3005800, PMID:10523031, PMID:18056632 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
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 ClinVar Annotator: match by term: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2 OMIM
ClinVar
PMID:11602629, PMID:15728199, PMID:15863676, PMID:20190276 NCBI chr17:21,490,402...21,499,516
Ensembl chr17:21,490,402...21,499,516
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 CTD PMID:9011580, PMID:11589681, PMID:12671052 RGD:734698 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21541686 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Cdc73 cell division cycle 73 ISO
ISS
Hyperparathyroidism-Jaw Tumor Syndrome, Hereditary, OMIM:145001
OMIM:145000 | OMIM:145001 | OMIM:610071
MouseDO PMID:12434154 RGD:1599666 NCBI chr13:60,403,771...60,496,511
Ensembl chr13:60,403,771...60,496,511
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO RGD PMID:11416220 RGD:734871 NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
JBrowse link
G Men1 menin 1 ISO
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 chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:parathyroid gland (human) RGD PMID:17047023 RGD:7207778 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11014383 NCBI chr 8:118,984,531...119,012,803
Ensembl chr 8:118,988,053...119,012,671
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 chr 4:70,918,631...70,934,291
Ensembl chr 4:70,918,632...70,934,295
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 chr13:60,435,946...60,444,957
Ensembl chr13:60,435,946...60,444,957
JBrowse link
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by null
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 chr13:60,403,771...60,496,511
Ensembl chr13:60,403,771...60,496,511
JBrowse link
G Glrx2 glutaredoxin 2 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr13:60,529,057...60,552,115
Ensembl chr13:60,529,932...60,537,916
JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Familial isolated hyperparathyroidism
ClinVar PMID:15292357, PMID:25741868 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
G Rgs1 regulator of G-protein signaling 1 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr13:61,066,196...61,070,772
Ensembl chr13:61,066,153...61,070,599
JBrowse link
G Rgs13 regulator of G-protein signaling 13 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr13:60,970,172...61,004,260
Ensembl chr13:60,970,247...61,003,744
JBrowse link
G Rgs18 regulator of G-protein signaling 18 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr13:61,564,381...61,591,139
Ensembl chr13:61,565,483...61,591,139
JBrowse link
G Rgs2 regulator of G-protein signaling 2 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr13:60,846,458...60,849,061
Ensembl chr13:60,846,308...60,849,094
JBrowse link
G Rgs21 regulator of G-protein signaling 21 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr13:61,286,425...61,310,742
Ensembl chr13:61,286,425...61,306,939
JBrowse link
G Ro60 Ro60, Y RNA binding protein ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr13:60,546,892...60,567,882
Ensembl chr13:60,546,912...60,567,882
JBrowse link
G Uchl5 ubiquitin C-terminal hydrolase L5 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr13:60,568,102...60,603,812
Ensembl chr13:60,545,635...60,603,811
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 chr13:60,435,946...60,444,957
Ensembl chr13:60,435,946...60,444,957
JBrowse link
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Hyperparathyroidism 2
ClinVar Annotator: match by term: HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY
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 chr13:60,403,771...60,496,511
Ensembl chr13:60,403,771...60,496,511
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 chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
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 ClinVar Annotator: match by term: Hyperparathyroidism 4 ClinVar
OMIM
PMID:27745835 NCBI chr17:21,490,402...21,499,516
Ensembl chr17:21,490,402...21,499,516
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 ClinVar Annotator: match by term: Neonatal severe hyperparathyroidism
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY
OMIM
ClinVar
CTD
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 chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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 chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
G Gata3 GATA binding protein 3 ISO HDR Syndrome/Barakat Syndrome, OMIM:146255 RGD PMID:10935639 RGD:1358706 NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681
JBrowse link
G Gcm2 glial cells missing transcription factor 2 ISS OMIM:146200 | OMIM:307700 MouseDO NCBI chr17:21,490,402...21,499,516
Ensembl chr17:21,490,402...21,499,516
JBrowse link
G Tbce tubulin folding cofactor E ISO hypoparathyroidism-retardation-dysmorphism syndrome, OMIM:241410 RGD PMID:12389028 RGD:1599303 NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027
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 chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
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 chr17:78,904,549...78,913,372
Ensembl chr17:78,904,873...78,910,671
JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:69,441,253...69,460,334
Ensembl chr17:69,441,223...69,460,321
JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:69,388,337...69,435,160
Ensembl chr17:69,388,335...69,404,341
JBrowse link
G Akr1c3 aldo-keto reductase family 1, member C3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:69,761,126...69,778,021
Ensembl chr17:69,761,118...69,778,021
JBrowse link
G Akr1e2 aldo-keto reductase family 1, member E2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:69,365,437...69,379,944
Ensembl chr17:69,365,453...69,379,947
JBrowse link
G Ankrd16 ankyrin repeat domain 16 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,384,883...70,398,089
Ensembl chr17:70,386,707...70,398,769
JBrowse link
G Arl5b ADP-ribosylation factor like GTPase 5B ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:82,065,893...82,092,693
Ensembl chr17:82,065,937...82,091,362
JBrowse link
G Asb13 ankyrin repeat and SOCS box-containing 13 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,215,401...70,234,103
Ensembl chr17:70,215,401...70,234,103
JBrowse link
G Atp5f1c ATP synthase F1 subunit gamma ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,209,321...72,231,562
Ensembl chr17:72,209,373...72,394,271
JBrowse link
G Bend7 BEN domain containing 7 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,448,430...77,527,888
Ensembl chr17:77,448,430...77,527,894
JBrowse link
G C1ql3 complement C1q like 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:80,314,186...80,320,681
Ensembl chr17:80,314,186...80,320,681
JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:81,673,862...82,019,219
Ensembl chr17:81,798,756...82,017,682
JBrowse link
G Calml3 calmodulin-like 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,070,458...70,073,697
Ensembl chr17:70,072,156...70,073,530
JBrowse link
G Calml5 calmodulin-like 5 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,044,956...70,045,886 JBrowse link
G Camk1d calcium/calmodulin-dependent protein kinase ID ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,532,611...76,938,956
Ensembl chr17:76,532,611...76,938,956
JBrowse link
G Ccdc3 coiled-coil domain containing 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,991,722...77,093,515
Ensembl chr17:76,995,043...77,093,308
JBrowse link
G Cdc123 cell division cycle 123 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,410,629...76,454,275
Ensembl chr17:76,410,585...76,454,282
JBrowse link
G Cdnf cerebral dopamine neurotrophic factor ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,721,230...78,735,324
Ensembl chr17:78,719,111...78,735,324
JBrowse link
G Celf2 CUGBP, Elav-like family member 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:75,259,269...75,660,154
Ensembl chr17:75,352,389...75,654,951
JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:80,584,921...80,807,181
Ensembl chr17:80,584,878...80,807,243
JBrowse link
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,782,512...78,812,140
Ensembl chr17:78,783,437...78,812,111
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,306,585...76,358,058
Ensembl chr17:76,306,585...76,358,058
JBrowse link
G Echdc3 enoyl CoA hydratase domain containing 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,002,304...76,022,813
Ensembl chr17:76,002,275...76,022,813
JBrowse link
G Fam107b family with sequence similarity 107, member B ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,489,667...78,689,933
Ensembl chr17:78,489,668...78,561,613
JBrowse link
G Fam171a1 family with sequence similarity 171, member A1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:79,030,150...79,149,480
Ensembl chr17:79,031,423...79,085,076
JBrowse link
G Fbh1 F-box DNA helicase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,399,093...70,437,151
Ensembl chr17:70,399,049...70,437,144
JBrowse link
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,642,302...77,918,210 JBrowse link
G Gata3 GATA binding protein 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism-deafness-renal disease syndrome
ClinVar Annotator: match by term: Barakat syndrome
ClinVar Annotator: match by OMIM:146255
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
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 chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681
JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,299,177...70,325,864
Ensembl chr17:70,299,183...70,325,855
JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:81,173,238...81,196,012
Ensembl chr17:81,173,713...81,187,739
JBrowse link
G Il15ra interleukin 15 receptor subunit alpha ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,451,861...70,481,838
Ensembl chr17:70,451,411...70,481,750
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
JBrowse link
G Itga8 integrin subunit alpha 8 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:79,321,893...79,676,927
Ensembl chr17:79,321,900...79,676,499
JBrowse link
G Itih2 inter-alpha-trypsin inhibitor heavy chain 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,160,734...72,197,248
Ensembl chr17:72,160,735...72,195,509
JBrowse link
G Kin Kin17 DNA and RNA binding protein ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,198,882...72,216,780
Ensembl chr17:72,198,866...72,209,279
JBrowse link
G Mcm10 minichromosome maintenance 10 replication initiation factor ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,224,218...77,245,486
Ensembl chr17:77,224,112...77,246,478
JBrowse link
G Meig1 meiosis/spermiogenesis associated 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,813,656...78,829,411
Ensembl chr17:78,817,529...78,829,411
JBrowse link
G Mindy3 MINDY lysine 48 deubiquitinase 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:79,720,534...79,798,470
Ensembl chr17:79,720,535...79,798,435
JBrowse link
G Net1 neuroepithelial cell transforming 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:69,991,786...70,020,977
Ensembl chr17:70,010,794...70,020,982
JBrowse link
G Nmt2 N-myristoyltransferase 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,919,235...78,966,013
Ensembl chr17:78,921,793...78,962,476
JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:82,020,316...82,060,533
Ensembl chr17:82,022,490...82,060,123
JBrowse link
G Nudt5 nudix hydrolase 5 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,387,027...76,410,309
Ensembl chr17:76,387,031...76,410,294
JBrowse link
G Olah oleoyl-ACP hydrolase ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,878,673...78,903,919
Ensembl chr17:78,879,058...78,903,967
JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
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 chr17:70,632,778...70,713,736
Ensembl chr17:70,684,134...70,713,726
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
JBrowse link
G Prkcq protein kinase C, theta ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,971,915...71,105,286
Ensembl chr17:70,971,915...71,105,286
JBrowse link
G Proser2 proline and serine rich 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,079,641...76,140,428
Ensembl chr17:76,079,720...76,137,697
JBrowse link
G Prpf18 pre-mRNA processing factor 18 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,601,914...77,632,507
Ensembl chr17:77,601,877...77,663,980
JBrowse link
G Pter phosphotriesterase related ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:80,250,444...80,311,987
Ensembl chr17:80,250,521...80,311,981
JBrowse link
G Rbm17 RNA binding motif protein 17 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,586,345...70,603,289
Ensembl chr17:70,586,394...70,603,267
JBrowse link
G Rpp38 ribonuclease P/MRP subunit p38 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,915,450...78,919,144
Ensembl chr17:78,915,604...78,919,143
JBrowse link
G Rsu1 Ras suppressor protein 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:80,388,477...80,577,338
Ensembl chr17:80,389,157...80,577,027
JBrowse link
G Sec61a2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,358,947...76,385,860
Ensembl chr17:76,358,944...76,385,103
JBrowse link
G Sephs1 selenophosphate synthetase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,312,562...77,340,934
Ensembl chr17:77,312,562...77,340,934
JBrowse link
G Sfmbt2 Scm-like with four mbt domains 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:71,719,012...71,904,303
Ensembl chr17:71,723,620...71,897,972
JBrowse link
G Slc39a12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:81,455,731...81,541,742
Ensembl chr17:81,455,955...81,541,759
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 chr17:80,960,785...81,002,830
Ensembl chr17:80,960,785...81,002,838
JBrowse link
G Stam signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:81,209,795...81,256,111
Ensembl chr17:81,209,867...81,255,808
JBrowse link
G Suv39h2 suppressor of variegation 3-9 homolog 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,762,897...78,782,016
Ensembl chr17:78,762,991...78,782,016
JBrowse link
G Taf3 TATA-box binding protein associated factor 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,240,785...72,393,448
Ensembl chr17:72,209,373...72,394,271
JBrowse link
G Tasor2 transcription activation suppressor family member 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,245,672...70,299,056
Ensembl chr17:70,262,363...70,297,751
JBrowse link
G Trdmt1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:80,824,652...80,859,585
Ensembl chr17:80,826,846...80,860,195
JBrowse link
G Tubal3 tubulin, alpha-like 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:69,974,272...69,982,957
Ensembl chr17:69,974,272...69,982,957
JBrowse link
G Ucma upper zone of growth plate and cartilage matrix associated ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,252,099...77,262,301
Ensembl chr17:77,252,100...77,261,731
JBrowse link
G Ucn3 urocortin 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:69,959,879...69,966,532
Ensembl chr17:69,960,160...69,966,099
JBrowse link
G Upf2 UPF2, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,176,379...76,287,246
Ensembl chr17:76,175,643...76,287,186
JBrowse link
G Usp6nl USP6 N-terminal like ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:75,759,428...75,887,108
Ensembl chr17:75,761,469...75,886,523
JBrowse link
G Vim vimentin ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
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 chr17:54,027,859...54,070,399
Ensembl chr17:54,027,859...54,070,399
JBrowse link
G Tbce tubulin folding cofactor E ISO 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
ClinVar Annotator: match by OMIM:241410
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12389028, PMID:16938882, PMID:25097779, PMID:25741868, PMID:26336027, PMID:28492532, PMID:30311386 NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027
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 chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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 chr13:60,403,771...60,496,511
Ensembl chr13:60,403,771...60,496,511
JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Parathyroid adenomas
ClinVar Annotator: match by term: Parathyroid adenoma, somatic
ClinVar PMID:9241276, PMID:9820618, PMID:12016472, PMID:20231234, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
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 chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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 chr13:60,403,771...60,496,511
Ensembl chr13:60,403,771...60,496,511
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 chr13:60,435,946...60,444,957
Ensembl chr13:60,435,946...60,444,957
JBrowse link
G Cdc73 cell division cycle 73 ISO 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 chr13:60,403,771...60,496,511
Ensembl chr13:60,403,771...60,496,511
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 PMID:14585940 RGD:1599665 NCBI chr13:60,403,771...60,496,511
Ensembl chr13:60,403,771...60,496,511
JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Parathyroid gland neoplasm ClinVar PMID:25157968, PMID:26619011, PMID:26822237 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Pth parathyroid hormone ISO protein:increased expression:serum (human) RGD PMID:23534747 RGD:7242410 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: :(rs1544410),(rs7975232),(rs731236)(human) RGD PMID:9070272 RGD:13432057 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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 chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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 chr13:60,403,771...60,496,511
Ensembl chr13:60,403,771...60,496,511
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 chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
JBrowse link
G Gpr19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:25741868 NCBI chr 4:168,639,930...168,668,345
Ensembl chr 4:168,639,940...168,656,673
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 chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:30311386 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
JBrowse link
G Pth parathyroid hormone ISO protein:increased expression:serum (human)
ClinVar Annotator: match by term: Primary hyperparathyroidism
ClinVar PMID:1425431, PMID:18784115, PMID:23447517 RGD:7242421 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: :(rs1544410),(rs7975232),(rs731236)(human) RGD PMID:9070272 RGD:13432057 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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 chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
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 treatment IEP RGD PMID:27988213 RGD:13450940 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
JBrowse link
G Acp5 acid phosphatase 5, tartrate resistant ISO CTD Direct Evidence: marker/mechanism CTD PMID:21985997, PMID:22373954 NCBI chr 8:23,142,733...23,149,067
Ensembl chr 8:23,142,734...23,148,396
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:22373954 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
JBrowse link
G Casr calcium-sensing receptor severity ISO associated with Kidney Failure, Chronic;DNA:missense mutations:cds:p.R990G, p.Q1011E (human)
protein:decreased expression:parathyroid gland (human)
RGD PMID:19640368, PMID:11044218 RGD:7205505, RGD:7205664 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21350317 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Eng endoglin ISO associated with Renal Insufficiency, Chronic; protein:increased expression:parathyroid gland, vasculature (human) RGD PMID:18398016 RGD:7248778 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21350317 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Kl Klotho IEP associated with Uremia;mRNA,protein:increased expression:parathyroid gland: RGD PMID:20631679 RGD:10403078 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 IDA associated with Kidney Failure, Chronic RGD PMID:19770516 RGD:8693427 NCBI chr 8:21,669,236...21,680,615
Ensembl chr 8:21,669,236...21,680,615
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP
ISO
associated with Uremia
associated with kidney failure, chronic: protein:increased expression:parathyroid gland
RGD PMID:21335517, PMID:21335517 RGD:5135046, RGD:5135046 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Pth parathyroid hormone treatment IEP
ISO
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 chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B treatment ISO associated with Kidney Failure, Chronic RGD PMID:22156488 RGD:7205487 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
G Vdr vitamin D receptor treatment IEP associated with Kidney Failure, Chronic RGD PMID:8807569 RGD:8158085 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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 chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969
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 ClinVar Annotator: match by term: HYPERPARATHYROIDISM, TRANSIENT NEONATAL ClinVar
OMIM
PMID:25741868, PMID:27296226, PMID:28878326, PMID:29258289, PMID:29861107, PMID:30820485 NCBI chr 4:70,918,631...70,934,291
Ensembl chr 4:70,918,632...70,934,295
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 chr11:83,858,503...83,867,543
Ensembl chr11:83,858,503...83,867,203
JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISS OMIM:192430 MouseDO NCBI chr11:87,338,606...87,356,644
Ensembl chr11:87,778,312...87,815,043
JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISS OMIM:192430 MouseDO NCBI chr11:87,242,441...87,290,806
Ensembl chr11:87,242,522...87,292,955
JBrowse link
G Dgcr6 DiGeorge syndrome critical region gene 6 ISS OMIM:192430 MouseDO NCBI chr11:87,076,205...87,081,306
Ensembl chr11:87,076,381...87,081,950
JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISS OMIM:192430 MouseDO NCBI chr11:86,852,682...86,885,233
Ensembl chr11:86,852,711...86,885,224
JBrowse link
G Ednra endothelin receptor type A ISS OMIM:192430 MouseDO NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
JBrowse link
G Ess2 ess-2 splicing factor homolog ISS OMIM:192430 MouseDO NCBI chr11:87,224,371...87,234,329
Ensembl chr11:87,224,421...87,233,326
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISS OMIM:192430 MouseDO NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISS OMIM:192430 MouseDO NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215
JBrowse link
G Tbx1 T-box transcription factor 1 ISO 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 chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969
JBrowse link
G Trappc10 trafficking protein particle complex 10 ISS OMIM:192430 MouseDO NCBI chr20:11,168,298...11,228,634
Ensembl chr20:11,168,298...11,228,625
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      endocrine system disease 4997
        parathyroid gland disease 189
          Parathyroid Neoplasms + 8
          hyperparathyroidism + 33
          hypoparathyroidism + 157
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.