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.
G
CASR
calcium sensing receptor
ISO
ClinVar Annotator: match by term: Familial benign hypercalcemia
ClinVar
PMID:791660 PMID:1302026 PMID:1706284 PMID:7054696 PMID:7726161 PMID:7791841 PMID:7916660 PMID:8636323 PMID:8675635 PMID:8702647 PMID:8733126 PMID:8878438 PMID:9011580 PMID:9536098 PMID:10023897 PMID:10217111 PMID:10770217 PMID:10912749 PMID:10971459 PMID:11013439 PMID:11136551 PMID:11161843 PMID:11248745 PMID:11580999 PMID:11701698 PMID:11733622 PMID:11807402 PMID:11889203 PMID:12018449 PMID:12040821 PMID:12052452 PMID:12067826 PMID:12095982 PMID:12107202 PMID:12114500 PMID:12191970 PMID:12239240 PMID:12574188 PMID:12574201 PMID:12733714 PMID:12890593 PMID:14508624 PMID:14519094 PMID:14985373 PMID:14997007 PMID:15292296 PMID:15531522 PMID:15572418 PMID:15591042 PMID:15598778 PMID:15699544 PMID:15751724 PMID:15864123 PMID:15879434 PMID:16497624 PMID:16649980 PMID:17018660 PMID:17039419 PMID:17117288 PMID:17284438 PMID:17309124 PMID:17320849 PMID:17332735 PMID:17473068 PMID:17478419 PMID:17555508 PMID:17576681 PMID:17698911 PMID:18328986 PMID:18680227 PMID:18751724 PMID:18756473 PMID:18796518 PMID:18938753 PMID:19179454 PMID:19389809 PMID:19694204 PMID:19759318 PMID:19779033 PMID:20119591 PMID:20164288 PMID:20602573 PMID:20668040 PMID:21239511 PMID:21289269 PMID:21414629 PMID:21521328 PMID:21645025 PMID:22024717 PMID:22192860 PMID:22422767 PMID:22789683 PMID:22798347 PMID:23077345 PMID:23372019 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24297799 PMID:24517148 PMID:24823460 PMID:24854525 PMID:24947037 PMID:24948345 PMID:25091521 PMID:25137426 PMID:25292184 PMID:25420019 PMID:25506941 PMID:25701758 PMID:25705702 PMID:25741868 PMID:26107257 PMID:26161261 PMID:26166472 PMID:26467025 PMID:26646938 PMID:26963950 PMID:27157104 PMID:27666534 PMID:27739473 PMID:27957351 PMID:28176280 PMID:28492532 PMID:29846619 PMID:29848507 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30895164 PMID:31189130 PMID:31433865 PMID:32347971 PMID:32386559 PMID:34913197 PMID:35242665 PMID:35300448 More...
NCBI chr13:138,279,785...138,364,934
Ensembl chr13:138,280,364...138,364,252
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:26989398 PMID:27038812 PMID:27153395 PMID:28492532 PMID:30990521 More...
NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831
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 More...
NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952
G
MIR30E
microRNA mir-30e
susceptibility
ISO
DNA:SNPs: (ss178077483, rs7556088) (human)
RGD
PMID:31280217
RGD:401827155
NCBI chr 6:170,429,841...170,429,920
Ensembl chr 6:170,429,841...170,429,920
G
PTH
parathyroid hormone
ISO
ClinVar Annotator: match by term: Primary hyperparathyroidism
ClinVar
PMID:1425431 PMID:18784115 PMID:25741868
NCBI chr 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415
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...78,266,475
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 chr10:575,075...667,432
G
B3GALT2
beta-1,3-galactosyltransferase 2
ISO
ClinVar Annotator: match by term: Hyperparathyroidism 1
ClinVar
PMID:21681106 PMID:25741868 PMID:28774260
NCBI chr10:613,464...623,587
Ensembl chr10:613,608...624,131
G
CDC73
cell division cycle 73
ISO
ClinVar Annotator: match by term: Hyperparathyroidism 1
OMIM ClinVar
PMID:9536098 PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:14985403 PMID:15531515 PMID:15580289 PMID:15632063 PMID:16061557 PMID:16199547 PMID:16487440 PMID:17065424 PMID:17576681 PMID:19017757 PMID:20052758 PMID:20301744 PMID:20979880 PMID:21681106 PMID:22187299 PMID:22703879 PMID:23029104 PMID:23293331 PMID:24716902 PMID:25444225 PMID:25637381 PMID:25741868 PMID:25959515 PMID:26580448 PMID:28492532 PMID:28774260 PMID:28833384 PMID:28870973 PMID:28881068 PMID:29641532 PMID:30262796 PMID:32590342 More...
NCBI chr10:575,075...667,618
Ensembl chr10:575,075...667,432
G
GLRX2
glutaredoxin 2
ISO
ClinVar Annotator: match by term: Hyperparathyroidism 1
ClinVar
PMID:21681106 PMID:28774260
NCBI chr10:679,305...689,890
G
MEN1
menin 1
ISO
ClinVar Annotator: match by term: Familial isolated hyperparathyroidism | ClinVar Annotator: match by term: Hyperparathyroidism 1
ClinVar
PMID:9536098 PMID:9683585 PMID:15254225 PMID:15292357 PMID:17576681 PMID:17623761 PMID:21819486 PMID:25741868 PMID:28492532 PMID:29416715 More...
NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952
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 chr10:1,147,458...1,151,738
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
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
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
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
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...725,346
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 chr10:725,561...763,985
G
B3GALT2
beta-1,3-galactosyltransferase 2
ISO
ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
ClinVar
PMID:25637381
NCBI chr10:613,464...623,587
Ensembl chr10:613,608...624,131
G
CDC73
cell division cycle 73
ISO
ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
OMIM ClinVar
PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 PMID:15613436 PMID:17065424 PMID:20052758 PMID:20301744 PMID:21652691 PMID:25637381 PMID:25741868 PMID:28492532 PMID:29641532 More...
NCBI chr10:575,075...667,618
Ensembl chr10:575,075...667,432
G
MEN1
menin 1
ISO
ClinVar Annotator: match by term: Familial isolated hyperparathyroidism
ClinVar
PMID:17623761 PMID:25741868 PMID:28492532
NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952
G
CASR
calcium sensing receptor
ISO
ClinVar Annotator: match by term: Neonatal severe hyperparathyroidism | ClinVar Annotator: match by term: Neonatal severe primary hyperparathyroidism
OMIM ClinVar
PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2211966 PMID:5013415 PMID:6543841 PMID:7054696 PMID:7717399 PMID:7726161 PMID:7791841 PMID:7916660 PMID:8636323 PMID:8675635 PMID:8702647 PMID:8733126 PMID:8878438 PMID:9011580 PMID:9109436 PMID:9253359 PMID:9395465 PMID:10023897 PMID:10217111 PMID:10770217 PMID:10885494 PMID:10912749 PMID:10971459 PMID:11013439 PMID:11136551 PMID:11161843 PMID:11231970 PMID:11248745 PMID:11580999 PMID:11701698 PMID:11733622 PMID:11763315 PMID:11807402 PMID:11889203 PMID:12018449 PMID:12040821 PMID:12052452 PMID:12067826 PMID:12095982 PMID:12107202 PMID:12114500 PMID:12191970 PMID:12239240 PMID:12469911 PMID:12574201 PMID:12733714 PMID:12890593 PMID:14508624 PMID:14997007 PMID:15292296 PMID:15531522 PMID:15572418 PMID:15591042 PMID:15598778 PMID:15699544 PMID:15751724 PMID:15864123 PMID:15879434 PMID:16199547 PMID:16497624 PMID:16642557 PMID:17018660 PMID:17117288 PMID:17284438 PMID:17309124 PMID:17320849 PMID:17332735 PMID:17473068 PMID:17478419 PMID:17555508 PMID:17698911 PMID:17803689 PMID:17974727 PMID:18219222 PMID:18328986 PMID:18680227 PMID:18751724 PMID:18756473 PMID:18796518 PMID:18830196 PMID:18938753 PMID:19102677 PMID:19179454 PMID:19389809 PMID:19423559 PMID:19694204 PMID:19759318 PMID:19779033 PMID:20119591 PMID:20164288 PMID:20290361 PMID:20602573 PMID:20668040 PMID:21239511 PMID:21289269 PMID:21414629 PMID:21521328 PMID:21645025 PMID:22024717 PMID:22142470 PMID:22192860 PMID:22331334 PMID:22422767 PMID:22789683 PMID:22798347 PMID:23077345 PMID:23372019 PMID:23764372 PMID:23966241 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24297799 PMID:24854525 PMID:24947037 PMID:25091521 PMID:25137426 PMID:25292184 PMID:25420019 PMID:25506941 PMID:25701758 PMID:25705702 PMID:25741868 PMID:25792032 PMID:25828954 PMID:26107257 PMID:26161261 PMID:26166472 PMID:26467025 PMID:26646938 PMID:26855056 PMID:26963950 PMID:27157104 PMID:27434672 PMID:27666534 PMID:27739473 PMID:27957351 PMID:28176280 PMID:28492532 PMID:29846619 PMID:29848507 PMID:30895164 PMID:31189130 PMID:31433868 PMID:31672324 PMID:32347971 PMID:32386559 PMID:32761341 PMID:33258288 PMID:34088669 PMID:34906475 PMID:35300448 More...
NCBI chr13:138,279,785...138,364,934
Ensembl chr13:138,280,364...138,364,252
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