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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 chr14:112,808,215...112,814,225
Ensembl chr14:112,808,210...112,814,134
JBrowse link
G SIX1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chr 1:189,620,430...189,624,652
Ensembl chr 1:189,619,853...189,628,187
JBrowse link
autosomal dominant hypocalcemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASR calcium sensing receptor ISO OMIM NCBI chr13:138,279,785...138,364,934
Ensembl chr13:138,280,363...138,364,253
JBrowse link
Autosomal Dominant Hypocalcemia, with Bartter Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASR calcium sensing receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome
CTD
ClinVar
PMID:11152759, PMID:12107202, PMID:12191970, PMID:12241879, PMID:15005845, PMID:17048213, PMID:25741868 NCBI chr13:138,279,785...138,364,934
Ensembl chr13:138,280,363...138,364,253
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 LOC100153093 RIMS-binding protein 3A ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr14:50,323,037...50,331,111 JBrowse link
G LOC100154312 coiled-coil domain-containing protein 116 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr14:50,255,859...50,260,743 JBrowse link
G LOC110256677 zinc finger protein 280A-like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr14:48,882,955...48,888,138 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 chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,523
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 chr14:50,206,807...50,232,845
Ensembl chr14:50,201,444...50,232,827
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 chr14:50,040,612...50,083,047
Ensembl chr14:50,040,663...50,063,326
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 chr14:48,901,097...48,906,855 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 chr14:50,249,607...50,251,636 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 chr14:50,378,957...50,383,573 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 chr14:50,020,412...50,037,854 JBrowse link
G UBE2L3 ubiquitin conjugating enzyme E2 L3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr14:50,265,102...50,315,409 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 chr14:49,972,058...49,972,768
Ensembl chr14:49,970,340...49,972,741
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 chr14:50,260,813...50,262,553
Ensembl chr14:50,260,788...50,262,550
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 chr14:50,190,641...50,208,732
Ensembl chr14:50,190,642...50,206,328
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 chr14:50,562,611...50,576,273
Ensembl chr14:50,562,613...50,576,274
JBrowse link
G ALDH1A2 aldehyde dehydrogenase 1 family member A2 ISO RGD PMID:12563036 RGD:734550 NCBI chr 1:113,932,722...114,037,059
Ensembl chr 1:113,715,620...114,037,249
JBrowse link
G ARVCF ARVCF delta catenin family member ISO ClinVar Annotator: match by term: DiGeorge sequence RGD
ClinVar
PMID:9126485, PMID:25516202, PMID:28492532, PMID:32581362 RGD:1578806 NCBI chr14:51,403,215...51,440,036
Ensembl chr14:51,403,923...51,440,059
JBrowse link
G BCR BCR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:49,208,662...49,322,109
Ensembl chr14:49,208,762...49,322,109
JBrowse link
G C14H22orf39 chromosome 14 C22orf39 homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr14:51,106,984...51,112,385 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 chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606
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 chr14:51,161,490...51,162,382
Ensembl chr14:51,161,032...51,163,482
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 chr14:51,384,729...51,403,997
Ensembl chr14:51,385,133...51,403,998
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 chr14:50,528,950...50,558,664
Ensembl chr14:50,528,954...50,558,663
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 chr14:50,881,260...50,935,603 JBrowse link
G DGCR6L DiGeorge syndrome critical region gene 6 like ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:51,644,840...51,657,368 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 chr14:51,473,512...51,489,535
Ensembl chr14:51,452,364...51,489,534
JBrowse link
G DVL1 dishevelled segment polarity protein 1 ISO RGD PMID:8644734 RGD:1580898 NCBI chr 6:63,617,787...63,628,965
Ensembl chr 6:63,617,789...63,629,229
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 chr14:50,945,121...50,956,018
Ensembl chr14:50,945,122...50,955,983
JBrowse link
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16399080 NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,210...112,814,134
JBrowse link
G GGT1 gamma-glutamyltransferase 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:49,618,737...49,638,054 JBrowse link
G GNAZ G protein subunit alpha z ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:49,132,012...49,174,114
Ensembl chr14:49,132,013...49,174,109
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 chr14:51,306,561...51,343,040
Ensembl chr14:51,305,005...51,343,029
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 chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114
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 chr14:50,956,315...50,960,424
Ensembl chr14:50,956,326...50,960,420
JBrowse link
G HIC2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,347,575...50,373,007
Ensembl chr14:50,365,851...50,368,634
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 chr14:51,029,117...51,102,409
Ensembl chr14:51,029,126...51,102,506
JBrowse link
G KAT6A lysine acetyltransferase 6A ISO RGD PMID:22921202 RGD:9590333 NCBI chr17:11,002,818...11,109,974 JBrowse link
G KLHL22 kelch like family member 22 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,773,917...50,809,991 JBrowse link
G LOC100153093 RIMS-binding protein 3A ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,323,037...50,331,111 JBrowse link
G LOC100154312 coiled-coil domain-containing protein 116 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,255,859...50,260,743 JBrowse link
G LOC100523213 immunoglobulin lambda-like polypeptide 5 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:49,951,542...49,960,517 JBrowse link
G LOC110256626 proline dehydrogenase 1, mitochondrial ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr14:51,624,919...51,644,467 JBrowse link
G LOC110256677 zinc finger protein 280A-like ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:48,882,955...48,888,138 JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,569,746...50,589,787
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,523
JBrowse link
G MED15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,703,010...50,759,310
Ensembl chr14:50,703,012...50,759,283
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 5:69,887,884...70,132,969
Ensembl chr 5:69,887,884...70,133,277
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 chr14:51,102,900...51,105,769
Ensembl chr14:51,102,613...51,105,767
JBrowse link
G P2RX6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,595,876...50,633,536
Ensembl chr14:50,623,708...50,632,260
JBrowse link
G PEX26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 5:70,133,024...70,142,515
Ensembl chr 5:70,133,022...70,180,433
JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,390,416...50,491,983
Ensembl chr14:50,390,408...50,491,950
JBrowse link
G PPIL2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,206,807...50,232,845
Ensembl chr14:50,201,444...50,232,827
JBrowse link
G PPM1F protein phosphatase, Mg2+/Mn2+ dependent 1F ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,040,612...50,083,047
Ensembl chr14:50,040,663...50,063,326
JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:48,901,097...48,906,855 JBrowse link
G RAB36 RAB36, member RAS oncogene family ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:49,186,282...49,202,334
Ensembl chr14:49,150,598...49,200,410
JBrowse link
G RANBP1 RAN binding protein 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:51,494,258...51,500,420
Ensembl chr14:51,494,258...51,500,419
JBrowse link
G RSPH14 radial spoke head 14 homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:49,123,934...49,186,157
Ensembl chr14:49,123,935...49,184,735
JBrowse link
G RTL10 retrotransposon Gag like 10 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr14:51,338,134...51,342,383 JBrowse link
G RTN4R reticulon 4 receptor ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:51,579,043...51,603,180
Ensembl chr14:51,575,015...51,602,968
JBrowse link
G SCARF2 scavenger receptor class F member 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,813,161...50,824,434
Ensembl chr14:50,813,127...50,825,893
JBrowse link
G SDF2L1 stromal cell derived factor 2 like 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,249,607...50,251,636 JBrowse link
G SEPTIN5 septin 5 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532 NCBI chr14:51,252,815...51,260,851 JBrowse link
G SERPIND1 serpin family D member 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,427,121...50,436,470
Ensembl chr14:50,416,309...50,436,470
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 chr14:50,974,616...51,002,970
Ensembl chr14:50,974,617...51,002,887
JBrowse link
G SLC7A4 solute carrier family 7 member 4 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,631,693...50,638,381
Ensembl chr14:50,633,878...50,637,404
JBrowse link
G SNAP29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,492,187...50,511,475
Ensembl chr14:50,492,154...50,511,456
JBrowse link
G TANGO2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:51,443,597...51,464,370
Ensembl chr14:51,443,615...51,464,370
JBrowse link
G TBX1 T-box transcription factor 1 ISO OMIM NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,143...51,296,725
JBrowse link
G THAP7 THAP domain containing 7 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,591,412...50,593,778
Ensembl chr14:50,591,440...50,593,580
JBrowse link
G TMEM191C transmembrane protein 191C ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,378,957...50,383,573 JBrowse link
G TOP3B DNA topoisomerase III beta ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,020,412...50,037,854 JBrowse link
G TRMT2A tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:51,489,889...51,494,204
Ensembl chr14:51,489,891...51,494,190
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 chr14:50,943,017...50,944,093
Ensembl chr14:50,943,017...50,944,093
JBrowse link
G TUBA8 tubulin alpha 8 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 5:70,154,251...70,174,001
Ensembl chr 5:70,133,022...70,180,433
JBrowse link
G TXNRD2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr14:51,355,731...51,385,096
Ensembl chr14:51,354,178...51,385,353
JBrowse link
G UBE2L3 ubiquitin conjugating enzyme E2 L3 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,265,102...50,315,409 JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: DiGeorge sequence RGD
ClinVar
PMID:10024240, PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 RGD:1580803 NCBI chr14:51,113,858...51,132,820
Ensembl chr14:51,113,713...51,133,072
JBrowse link
G USP18 ubiquitin specific peptidase 18 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 5:70,183,321...70,227,990
Ensembl chr 5:70,183,308...70,227,990
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 chr14:49,972,058...49,972,768
Ensembl chr14:49,970,340...49,972,741
JBrowse link
G YDJC YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,260,813...50,262,553
Ensembl chr14:50,260,788...50,262,550
JBrowse link
G YPEL1 yippee like 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,190,641...50,208,732
Ensembl chr14:50,190,642...50,206,328
JBrowse link
G ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:51,503,074...51,517,577
Ensembl chr14:51,503,114...51,517,581
JBrowse link
G ZNF74 zinc finger protein 74 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,840,500...50,869,945 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 chr10:575,075...667,618
Ensembl chr10:575,074...667,434
JBrowse link
familial isolated hypoparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASR calcium sensing receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial isolated hypoparathyroidism
ClinVar Annotator: match by term: Hypoparathyroidism familial isolated
CTD
ClinVar
PMID:1706284, PMID:8636323, PMID:10023897, PMID:10217111, PMID:10912749, PMID:11161843, PMID:11248745, PMID:11580999, PMID:11733622, PMID:11807402, PMID:12018449, PMID:12040821, PMID:12052452, PMID:12239240, PMID:12574201, PMID:14508624, PMID:14997007, PMID:15531522, PMID:15598778, PMID:15864123, PMID:15879434, PMID:16497624, PMID:17018660, PMID:17117288, PMID:17309124, PMID:17320849, PMID:17332735, PMID:17555508, PMID:17698911, PMID:18328986, PMID:18680227, PMID:18756473, PMID:19694204, PMID:20119591, PMID:20164288, PMID:20602573, PMID:21414629, PMID:21521328, PMID:21645025, PMID:22024717, PMID:22192860, PMID:22422767, PMID:24033266, PMID:24133354, PMID:25292184, PMID:25705702, PMID:25741868, PMID:26107257, PMID:26166472, PMID:26467025, PMID:26646938, PMID:27157104, PMID:27957351, PMID:28492532, PMID:29846619 NCBI chr13:138,279,785...138,364,934
Ensembl chr13:138,280,363...138,364,253
JBrowse link
G GCM2 glial cells missing transcription factor 2 ISO ClinVar Annotator: match by term: Familial isolated hypoparathyroidism
ClinVar Annotator: match by term: Hypoparathyroidism familial isolated
ClinVar PMID:15728199, PMID:18182452, PMID:21642377, PMID:23155703, PMID:25741868, PMID:27745835, PMID:28492532, PMID:29264504 NCBI chr 7:7,563,880...7,570,628
Ensembl chr 7:7,564,252...7,570,523
JBrowse link
G PTH parathyroid hormone ISO DNA:missense mutation:cds:p.C18R (human)
ClinVar Annotator: match by term: Hypoparathyroidism familial isolated
ClinVar Annotator: match by term: Familial isolated hypoparathyroidism
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1302009, PMID:2212001, PMID:24033266, PMID:25741868, PMID:28492532 RGD:1598941 NCBI chr 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415
JBrowse link
Familial Isolated Hypoparathyroidism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTH parathyroid hormone ISO OMIM NCBI chr 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415
JBrowse link
Familial Isolated Hypoparathyroidism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCM2 glial cells missing transcription factor 2 ISO OMIM NCBI chr 7:7,563,880...7,570,628
Ensembl chr 7:7,564,252...7,570,523
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
RGD
PMID:9011580, PMID:11589681, PMID:12671052 RGD:734698 NCBI chr13:138,279,785...138,364,934
Ensembl chr13:138,280,363...138,364,253
JBrowse link
G CCND1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21541686 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296
JBrowse link
G CYP27B1 25-hydroxyvitamin D3 1alpha-hydroxylase ISO RGD PMID:11416220 RGD:734871 NCBI chr 5:23,053,129...23,058,865
Ensembl chr 5:23,050,114...23,058,470
JBrowse link
G MEN1 menin 1 ISO DNA:SNPs: :multiple
ClinVar Annotator: match by term: Hyperparathyroidism
RGD
ClinVar
PMID:9103196, PMID:9215689, PMID:9407947, PMID:9463336, PMID:9683585, PMID:9888389, PMID:9935177, PMID:10090472, PMID:10634422, PMID:10647896, PMID:10759881, PMID:10843194, PMID:10918183, PMID:11807402, PMID:12652570, PMID:15670192, PMID:16322378, PMID:16563611, PMID:17590169, PMID:17623761, PMID:17879353, PMID:17953629, PMID:20833329, PMID:21819486, PMID:22187299, PMID:22703879, PMID:23321498, PMID:23933118, PMID:24033266, PMID:24728327, PMID:24997771, PMID:25309785, PMID:25637381, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30630164, PMID:30820182 RGD:2317347 NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,357,951...7,365,128
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:parathyroid gland (human) RGD PMID:17047023 RGD:7207778 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
JBrowse link
G PTH1R parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11014383 NCBI chr13:29,749,940...29,775,361
Ensembl chr13:29,753,308...29,775,371
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 chr10:613,464...623,587
Ensembl chr10:613,608...624,131
JBrowse link
G CDC73 cell division cycle 73 ISO OMIM NCBI chr10:575,075...667,618
Ensembl chr10:575,074...667,434
JBrowse link
G GLRX2 glutaredoxin 2 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr10:679,305...689,890 JBrowse link
G MEN1 menin 1 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1
ClinVar Annotator: match by term: Familial isolated hyperparathyroidism
ClinVar PMID:15292357, PMID:25741868 NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,357,951...7,365,128
JBrowse link
G RGS1 regulator of G protein signaling 1 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr10:1,147,439...1,151,733
Ensembl chr10:1,147,457...1,151,738
JBrowse link
G RGS13 regulator of G protein signaling 13 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr10:1,056,920...1,082,394
Ensembl chr10:1,057,622...1,082,222
JBrowse link
G RGS18 regulator of G protein signaling 18 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr10:1,520,866...1,539,776
Ensembl chr10:1,520,872...1,539,663
JBrowse link
G RGS2 regulator of G protein signaling 2 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr10:936,836...940,083
Ensembl chr10:936,789...940,098
JBrowse link
G RGS21 regulator of G protein signaling 21 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr10:1,341,821...1,396,191
Ensembl chr10:1,340,758...1,394,203
JBrowse link
G RO60 Ro60, Y RNA binding protein ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr10:694,335...725,378
Ensembl chr10:694,445...725,340
JBrowse link
G UCHL5 ubiquitin C-terminal hydrolase L5 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr10:725,688...761,633
Ensembl chr10:725,489...764,006
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 chr10:613,464...623,587
Ensembl chr10:613,608...624,131
JBrowse link
G CDC73 cell division cycle 73 ISO OMIM NCBI chr10:575,075...667,618
Ensembl chr10:575,074...667,434
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 2:7,358,130...7,364,952
Ensembl chr 2:7,357,951...7,365,128
JBrowse link
Hyperparathyroidism 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCM2 glial cells missing transcription factor 2 ISO OMIM NCBI chr 7:7,563,880...7,570,628
Ensembl chr 7:7,564,252...7,570,523
JBrowse link
Hyperparathyroidism, Neonatal Severe Primary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASR calcium sensing receptor ISO OMIM NCBI chr13:138,279,785...138,364,934
Ensembl chr13:138,280,363...138,364,253
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 chr13:138,279,785...138,364,934
Ensembl chr13:138,280,363...138,364,253
JBrowse link
G GATA3 GATA binding protein 3 ISO HDR Syndrome/Barakat Syndrome, OMIM:146255 DNA:point_mutation, deletion, deletion:CDS:Arg277Ter, 49bpDELnt465-513, 12bpDELnt946-957 RGD PMID:10935639 RGD:1358706 NCBI chr10:63,367,684...63,397,977
Ensembl chr10:63,367,660...63,388,859
JBrowse link
G TBCE tubulin folding cofactor E ISO hypoparathyroidism-retardation-dysmorphism syndrome, OMIM:241410 RGD PMID:12389028 RGD:1599303 NCBI chr14:55,816,663...55,901,215 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 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415
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 chr10:46,740,570...46,751,208
Ensembl chr10:46,740,585...46,750,606
JBrowse link
G AKR1E2 aldo-keto reductase family 1 member E2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:65,680,314...65,704,701
Ensembl chr10:65,680,323...65,704,867
JBrowse link
G ANKRD16 ankyrin repeat domain 16 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:65,109,043...65,149,416
Ensembl chr10:65,109,058...65,122,188
JBrowse link
G ARL5B ADP ribosylation factor like GTPase 5B ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:55,675,129...55,700,389
Ensembl chr10:55,675,138...55,700,305
JBrowse link
G ASB13 ankyrin repeat and SOCS box containing 13 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:65,274,476...65,302,345
Ensembl chr10:65,267,731...65,303,243
JBrowse link
G ATP5F1C ATP synthase F1 subunit gamma ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:63,584,288...63,599,537
Ensembl chr10:63,583,693...63,599,453
JBrowse link
G BEND7 BEN domain containing 7 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:48,177,594...48,264,083 JBrowse link
G C1QL3 complement C1q like 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:45,357,247...45,368,901
Ensembl chr10:45,359,660...45,368,807
JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:44,321,954...44,887,410
Ensembl chr10:44,421,666...44,885,424
JBrowse link
G CALML5 calmodulin like 5 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:65,405,928...65,407,306
Ensembl chr10:65,406,633...65,407,082
JBrowse link
G CAMK1D calcium/calmodulin dependent protein kinase ID ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:59,199,541...59,630,191
Ensembl chr10:59,205,262...59,630,102
JBrowse link
G CDC123 cell division cycle 123 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:59,718,340...59,765,621
Ensembl chr10:59,718,340...59,765,621
JBrowse link
G CDNF cerebral dopamine neurotrophic factor ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:46,935,530...46,963,926 JBrowse link
G CELF2 CUGBP Elav-like family member 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:60,504,925...60,867,631
Ensembl chr10:60,506,482...61,084,861
JBrowse link
G CUBN cubilin ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:43,102,931...43,414,692
Ensembl chr10:43,102,946...43,414,613
JBrowse link
G DCLRE1C DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:46,820,016...46,863,848
Ensembl chr10:46,820,051...46,868,030
JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:59,820,418...59,875,322
Ensembl chr10:59,790,073...59,875,245
JBrowse link
G ECHDC3 enoyl-CoA hydratase domain containing 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:60,117,425...60,138,662
Ensembl chr10:60,117,433...60,138,611
JBrowse link
G FAM107B family with sequence similarity 107 member B ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:47,140,776...47,223,386 JBrowse link
G FAM171A1 family with sequence similarity 171 member A1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:46,449,781...46,601,093
Ensembl chr10:46,449,779...46,601,093
JBrowse link
G FBH1 F-box DNA helicase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:65,060,714...65,108,975
Ensembl chr10:64,955,189...65,108,380
JBrowse link
G FRMD4A FERM domain containing 4A ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:47,384,867...48,048,948
Ensembl chr10:47,385,718...48,049,718
JBrowse link
G GATA3 GATA binding protein 3 ISO OMIM NCBI chr10:63,367,684...63,397,977
Ensembl chr10:63,367,660...63,388,859
JBrowse link
G GDI2 GDP dissociation inhibitor 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:65,160,700...65,196,447
Ensembl chr10:65,160,653...65,230,777
JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:43,901,590...43,929,441
Ensembl chr10:43,897,161...43,929,409
JBrowse link
G IL15RA interleukin 15 receptor subunit alpha ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:65,022,227...65,054,385 JBrowse link
G IL2RA interleukin 2 receptor subunit alpha ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:64,948,149...65,001,320
Ensembl chr10:64,948,552...65,001,173
JBrowse link
G ITGA8 integrin subunit alpha 8 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:46,132,887...46,303,659
Ensembl chr10:46,132,914...46,303,365
JBrowse link
G ITIH2 inter-alpha-trypsin inhibitor heavy chain 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:63,635,206...63,672,200
Ensembl chr10:63,635,205...63,672,238
JBrowse link
G ITIH5 inter-alpha-trypsin inhibitor heavy chain 5 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:63,688,416...63,764,566
Ensembl chr10:63,688,406...63,767,125
JBrowse link
G KIN Kin17 DNA and RNA binding protein ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:63,599,612...63,634,844
Ensembl chr10:63,599,632...63,635,969
JBrowse link
G LOC100510975 coiled-coil domain-containing protein 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:59,052,979...59,144,791
Ensembl chr10:59,052,910...59,144,797
JBrowse link
G LOC100524391 putative methyltransferase NSUN6 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:44,884,179...44,958,024
Ensembl chr10:44,882,449...44,976,445
JBrowse link
G MCM10 minichromosome maintenance 10 replication initiation factor ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:48,481,292...48,523,921
Ensembl chr10:48,480,700...48,582,857
JBrowse link
G MEIG1 meiosis/spermiogenesis associated 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:46,771,820...46,800,955 JBrowse link
G MINDY3 MINDY lysine 48 deubiquitinase 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:45,980,088...46,062,700
Ensembl chr10:45,980,111...46,062,701
JBrowse link
G NET1 neuroepithelial cell transforming 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:65,428,013...65,438,346
Ensembl chr10:65,426,516...65,459,754
JBrowse link
G NMT2 N-myristoyltransferase 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:46,647,167...46,722,519
Ensembl chr10:46,593,611...46,720,983
JBrowse link
G NUDT5 nudix hydrolase 5 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:59,765,444...59,787,773
Ensembl chr10:59,765,703...59,790,159
JBrowse link
G OLAH oleoyl-ACP hydrolase ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:46,752,241...46,770,881 JBrowse link
G OPTN optineurin ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:48,532,029...48,582,952
Ensembl chr10:48,530,844...48,582,910
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 chr10:64,776,315...64,859,118
Ensembl chr10:64,776,315...64,859,051
JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:48,404,298...48,423,978
Ensembl chr10:48,404,293...48,423,978
JBrowse link
G PRKCQ protein kinase C theta ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:64,442,588...64,596,528
Ensembl chr10:64,443,251...64,600,339
JBrowse link
G PROSER2 proline and serine rich 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:60,033,509...60,077,360
Ensembl chr10:60,033,529...60,058,496
JBrowse link
G PRPF18 pre-mRNA processing factor 18 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:48,062,229...48,122,222 JBrowse link
G PTER phosphotriesterase related ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:45,368,515...45,440,294
Ensembl chr10:45,361,713...45,440,215
JBrowse link
G RBM17 RNA binding motif protein 17 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:64,886,433...64,909,006
Ensembl chr10:64,885,866...64,908,964
JBrowse link
G RPP38 ribonuclease P/MRP subunit p38 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:46,720,135...46,725,962
Ensembl chr10:46,717,195...46,725,920
JBrowse link
G RSU1 Ras suppressor protein 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:45,079,014...45,492,073
Ensembl chr10:45,079,047...45,289,422
JBrowse link
G SEC61A2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:59,790,073...59,817,039
Ensembl chr10:59,773,849...59,817,014
JBrowse link
G SEPHS1 selenophosphate synthetase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:48,359,379...48,385,787
Ensembl chr10:48,359,390...48,386,263
JBrowse link
G SFMBT2 Scm like with four mbt domains 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:63,877,033...64,070,867
Ensembl chr10:63,877,025...64,070,772
JBrowse link
G SLC39A12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:44,239,279...44,320,974
Ensembl chr10:44,239,274...44,320,974
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 chr10:43,601,677...43,755,154
Ensembl chr10:43,601,674...43,755,140
JBrowse link
G STAM signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:43,946,990...44,016,064
Ensembl chr10:43,947,010...44,016,058
JBrowse link
G SUV39H2 suppressor of variegation 3-9 homolog 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:46,874,606...46,900,058
Ensembl chr10:46,862,584...46,900,040
JBrowse link
G TAF3 TATA-box binding protein associated factor 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:63,422,184...63,576,400
Ensembl chr10:63,422,186...63,576,378
JBrowse link
G TASOR2 transcription activation suppressor family member 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:65,197,581...65,268,473
Ensembl chr10:65,197,584...65,267,043
JBrowse link
G TRDMT1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:43,434,148...43,494,924
Ensembl chr10:43,434,444...43,516,094
JBrowse link
G TUBAL3 tubulin alpha like 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:65,476,215...65,487,334
Ensembl chr10:65,476,227...65,489,345
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 chr10:48,460,713...48,471,213
Ensembl chr10:48,460,762...48,471,083
JBrowse link
G UCN3 urocortin 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:65,491,231...65,495,879 JBrowse link
G UPF2 UPF2 regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:59,893,106...59,993,403
Ensembl chr10:59,898,922...60,090,229
JBrowse link
G USP6NL USP6 N-terminal like ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:60,193,505...60,398,399
Ensembl chr10:60,240,912...60,396,617
JBrowse link
G VIM vimentin ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr10:43,516,441...43,526,172
Ensembl chr10:43,517,307...43,526,172
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 chr14:55,749,409...55,818,738
Ensembl chr14:55,749,472...55,818,012
JBrowse link
G TBCE tubulin folding cofactor E ISO OMIM NCBI chr14:55,816,663...55,901,215 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 chr13:138,279,785...138,364,934
Ensembl chr13:138,280,363...138,364,253
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 chr10:575,075...667,618
Ensembl chr10:575,074...667,434
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 2:7,358,130...7,364,952
Ensembl chr 2:7,357,951...7,365,128
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 chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,922...39,937,371
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 chr10:575,075...667,618
Ensembl chr10:575,074...667,434
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 chr10:613,464...623,587
Ensembl chr10:613,608...624,131
JBrowse link
G CDC73 cell division cycle 73 ISO OMIM NCBI chr10:575,075...667,618
Ensembl chr10:575,074...667,434
JBrowse link
Parathyroid Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC73 cell division cycle 73 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:575,075...667,618
Ensembl chr10:575,074...667,434
JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Parathyroid gland neoplasm ClinVar PMID:25157968, PMID:26619011, PMID:26822237 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,137,173...25,208,311
JBrowse link
G PTH parathyroid hormone ISO protein:increased expression:serum (human) RGD PMID:23534747 RGD:7242410 NCBI chr 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415
JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: :(rs1544410),(rs7975232),(rs731236)(human) RGD PMID:9070272 RGD:13432057 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
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 chr13:138,279,785...138,364,934
Ensembl chr13:138,280,363...138,364,253
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 chr10:575,075...667,618
Ensembl chr10:575,074...667,434
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 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831
JBrowse link
G GPR19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:25741868 NCBI chr 5:59,749,825...59,792,519
Ensembl chr 5:59,753,054...59,792,656
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 2:7,358,130...7,364,952
Ensembl chr 2:7,357,951...7,365,128
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:30311386 NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,442
JBrowse link
G PTH parathyroid hormone ISO protein:increased expression:serum (human)
ClinVar Annotator: match by term: Primary hyperparathyroidism
RGD
ClinVar
PMID:1425431, PMID:18784115, PMID:23447517 RGD:7242421 NCBI chr 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415
JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: :(rs1544410),(rs7975232),(rs731236)(human) RGD PMID:9070272 RGD:13432057 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
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 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415
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, sub-family G (WHITE), member 2 treatment ISO RGD PMID:27988213 RGD:13450940 NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,775,472...130,998,660
JBrowse link
G ACP5 acid phosphatase 5, tartrate resistant ISO CTD Direct Evidence: marker/mechanism CTD PMID:21985997, PMID:22373954 NCBI chr 2:70,206,159...70,209,855
Ensembl chr 2:70,206,159...70,208,328
JBrowse link
G ALPL alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:22373954 NCBI chr 6:79,589,695...79,649,646
Ensembl chr 6:79,588,659...79,649,648
JBrowse link
G CASR calcium sensing receptor severity ISO associated with Kidney Failure, Chronic;DNA:missense mutations:cds:p.R990G, p.Q1011E (human)
protein:decreased expression:parathyroid gland (human)
RGD PMID:11044218, PMID:19640368 RGD:7205505, RGD:7205664 NCBI chr13:138,279,785...138,364,934
Ensembl chr13:138,280,363...138,364,253
JBrowse link
G CRP C-reactive protein, pentraxin-related ISO CTD Direct Evidence: marker/mechanism CTD PMID:21350317 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,722,352...90,805,236
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 1:268,309,379...268,343,861
Ensembl chr 1:268,306,120...268,343,827
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21350317 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G KL klotho ISO associated with Uremia;mRNA,protein:increased expression:parathyroid gland: RGD PMID:20631679 RGD:10403078 NCBI chr11:9,427,236...9,479,251
Ensembl chr11:9,427,198...9,478,346
JBrowse link
G PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 ISO associated with Kidney Failure, Chronic RGD PMID:19770516 RGD:8693427 NCBI chr 2:68,715,898...68,729,471
Ensembl chr 2:68,715,880...68,729,469
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO associated with Uremia
associated with kidney failure, chronic: protein:increased expression:parathyroid gland
RGD PMID:21335517 RGD:5135046 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,013...127,858,884
JBrowse link
G PTH parathyroid hormone treatment ISO CTD Direct Evidence: marker/mechanism
associated with Renal Insufficiency, Chronic; DNA:snp:exon:g.350C>A (rs6256) (human)
associated with Kidney Failure, Chronic
associated with Uremia
associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human)
CTD
RGD
PMID:12046039, PMID:21335517, PMID:21350317, PMID:22118402, PMID:22373954, PMID:23121374, PMID:23499504, PMID:23529273 RGD:5135046, RGD:7242411, RGD:7242414, RGD:7242728, RGD:7242750 NCBI chr 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b treatment ISO associated with Kidney Failure, Chronic RGD PMID:22156488 RGD:7205487 NCBI chr 4:19,850,212...19,879,132 JBrowse link
G VDR vitamin D receptor treatment ISO associated with Kidney Failure, Chronic RGD PMID:8807569 RGD:8158085 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
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 chr14:51,289,376...51,297,110
Ensembl chr14:51,289,143...51,296,725
JBrowse link
velocardiofacial syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX1 T-box transcription factor 1 ISO OMIM NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,143...51,296,725
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12641
    disease of anatomical entity 12177
      endocrine system disease 4233
        parathyroid gland disease 172
          Parathyroid Neoplasms + 8
          hyperparathyroidism + 32
          hypoparathyroidism + 141
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.