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.
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Calca
calcitonin-related polypeptide alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1115441 PMID:12637657
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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Calcr
calcitonin receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18627265
NCBI chr 4:31,661,270...31,736,392
Ensembl chr 4:31,661,273...31,736,392
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Casr
calcium-sensing receptor
ISO
DNA:missense mutations:cds:p.R990G, p.E1011Q (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypercalcemia
CTD ClinVar RGD
PMID:8675635 PMID:8878438 PMID:9011580 PMID:17284438 PMID:19389809 PMID:19779033 PMID:22798347 PMID:23372019 PMID:25741868 PMID:26467025 PMID:28492532 PMID:12671052 PMID:20602573 More...
RGD:734698 , RGD:7205445
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22337913
NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20427501
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Kl
Klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17710231
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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Pth
parathyroid hormone
IDA ISO
associated with Kidney Failure, Chronic CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:4004906 PMID:7891547 PMID:9382671 PMID:10638776 PMID:12399635 PMID:17164314 PMID:23261531 More...
RGD:7242689
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Pth1r
parathyroid hormone 1 receptor
IDA
protein:increased expression:odontoblast; associated with neoplasms
RGD
PMID:16036863
RGD:1599980
NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
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Pthlh
parathyroid hormone-like hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3616618 PMID:10638776 PMID:11054717 PMID:12358896
NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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Slc34a1
solute carrier family 34 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9560283
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf11b
TNF receptor superfamily member 11B
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15845617
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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Tnfsf11
TNF superfamily member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15845617
NCBI chr15:53,674,990...53,705,171
Ensembl chr15:53,673,877...53,705,445
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Casr
calcium-sensing receptor
ISO
ClinVar Annotator: match by term: Familial benign hypercalcemia | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2476381 PMID:3966479 PMID:6543841 PMID:7054696 PMID:7717399 PMID:7726161 PMID:7791841 PMID:7874174 PMID:7916660 PMID:8132750 PMID:8636323 PMID:8675635 PMID:8698326 PMID:8702647 PMID:8733126 PMID:8813042 PMID:8878438 PMID:9011580 PMID:9109436 PMID:9217223 PMID:9253359 PMID:9395465 PMID:9422777 PMID:9536098 PMID:9661634 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10468915 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 PMID:10971459 PMID:11013439 PMID:11102444 PMID:11136551 PMID:11161843 PMID:11248745 PMID:11580999 PMID:11668634 PMID:11701698 PMID:11733622 PMID:11763315 PMID:11807402 PMID:11889203 PMID:12018449 PMID:12040821 PMID:12052452 PMID:12067826 PMID:12095982 PMID:12114500 PMID:12162500 PMID:12239240 PMID:12574188 PMID:12574201 PMID:12580936 PMID:12733714 PMID:12890593 PMID:14089114 PMID:14508624 PMID:14519094 PMID:14714270 PMID:14997007 PMID:15241688 PMID:15292296 PMID:15531522 PMID:15572418 PMID:15598778 PMID:15751724 PMID:15864123 PMID:15879434 PMID:16199547 PMID:16497624 PMID:16598859 PMID:16642557 PMID:16649980 PMID:16740594 PMID:16918956 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:17803689 PMID:17974727 PMID:18328986 PMID:18410554 PMID:18680227 PMID:18751724 PMID:18756473 PMID:18796518 PMID:18830196 PMID:18887540 PMID:19073830 PMID:19102677 PMID:19179454 PMID:19389809 PMID:19423559 PMID:19694204 PMID:19759318 PMID:19763152 PMID:19779033 PMID:19789209 PMID:19953642 PMID:20119591 PMID:20164288 PMID:20307669 PMID:20335782 PMID:20335783 PMID:20374733 PMID:20602573 PMID:20668040 PMID:20798521 PMID:20972686 PMID:21239511 PMID:21289269 PMID:21369680 PMID:21414629 PMID:21441391 PMID:21521328 PMID:21645025 PMID:21844754 PMID:22024717 PMID:22142470 PMID:22187299 PMID:22192860 PMID:22232026 PMID:22331334 PMID:22406018 PMID:22422767 PMID:22620673 PMID:22789683 PMID:22798347 PMID:23077345 PMID:23169696 PMID:23265383 PMID:23372019 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24244430 PMID:24297799 PMID:24517148 PMID:24735972 PMID:24763815 PMID:24823460 PMID:24854525 PMID:24947037 PMID:25091521 PMID:25104082 PMID:25137426 PMID:25292184 PMID:25701758 PMID:25705702 PMID:25741868 PMID:25828954 PMID:26107257 PMID:26161261 PMID:26166472 PMID:26290606 PMID:26323216 PMID:26467025 PMID:26646938 PMID:26855056 PMID:26963950 PMID:27086061 PMID:27157104 PMID:27390877 PMID:27418061 PMID:27666534 PMID:27739473 PMID:27957351 PMID:28176280 PMID:28492532 PMID:29026550 PMID:29846619 PMID:29848507 PMID:30019023 PMID:30052933 PMID:30407919 PMID:31189130 PMID:31433865 PMID:31433868 PMID:31672324 PMID:32160303 PMID:32347971 PMID:32386559 PMID:32638038 PMID:32761341 PMID:32871939 PMID:33258288 More...
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Casr
calcium-sensing receptor
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.A213E (human) DNA:missense mutations:cds:multiple (human) DNA:missense mutations:cds:p.R186E, p.E298K, p.R796W (human)
ClinVar CTD OMIM RGD
PMID:791660 PMID:1302026 PMID:1706284 PMID:2211966 PMID:3966479 PMID:5013415 PMID:6543841 PMID:7054696 PMID:7673400 PMID:7717399 PMID:7726161 PMID:7791841 PMID:7874174 PMID:7916660 PMID:8636323 PMID:8702647 PMID:9011580 PMID:9109436 PMID:9422777 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10468915 PMID:10770217 PMID:10843194 PMID:10912749 PMID:10912782 PMID:11013439 PMID:11102444 PMID:11134112 PMID:11161843 PMID:11231970 PMID:11248745 PMID:11580999 PMID:11668634 PMID:11733622 PMID:11807402 PMID:11889203 PMID:12018449 PMID:12040821 PMID:12052452 PMID:12095982 PMID:12114500 PMID:12239240 PMID:12469911 PMID:12574201 PMID:12890593 PMID:14089114 PMID:14508624 PMID:14997007 PMID:15292296 PMID:15531522 PMID:15572418 PMID:15579740 PMID:15598778 PMID:15751724 PMID:15864123 PMID:15879434 PMID:16199547 PMID:16497624 PMID:16598859 PMID:16642557 PMID:16740594 PMID:17018660 PMID:17117288 PMID:17284438 PMID:17309124 PMID:17320849 PMID:17332735 PMID:17473068 PMID:17478419 PMID:17555508 PMID:17698911 PMID:18328986 PMID:18680227 PMID:18751724 PMID:18756473 PMID:18796518 PMID:18887540 PMID:19179454 PMID:19389809 PMID:19423559 PMID:19694204 PMID:19759318 PMID:20164288 PMID:20290361 PMID:20602573 PMID:20798521 PMID:21239511 PMID:21289269 PMID:21369680 PMID:21414629 PMID:21521328 PMID:21645025 PMID:22024717 PMID:22192860 PMID:22331334 PMID:22422767 PMID:22798347 PMID:23077345 PMID:23372019 PMID:23966241 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24297799 PMID:24735972 PMID:24947037 PMID:25091521 PMID:25104082 PMID:25292184 PMID:25701758 PMID:25705702 PMID:25741868 PMID:25828954 PMID:26107257 PMID:26161261 PMID:26166472 PMID:26467025 PMID:26646938 PMID:26855056 PMID:26963950 PMID:27157104 PMID:27666534 PMID:27739473 PMID:27957351 PMID:28176280 PMID:28492532 PMID:29846619 PMID:29848507 PMID:31672324 PMID:32347971 PMID:32761341 PMID:33258288 PMID:7493018 PMID:21034470 PMID:7726161 PMID:7916660 More...
RGD:7205436 , RGD:7205499 , RGD:7205440 , RGD:1600616
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Gna11
G protein subunit alpha 11
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2
OMIM ClinVar
PMID:23802516 PMID:26729423
NCBI chr 7:8,163,752...8,177,636
Ensembl chr 7:8,162,750...8,179,812
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Ap2s1
adaptor related protein complex 2 subunit sigma 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1524075 PMID:20133464 PMID:23222959 PMID:24081735 PMID:24731014 PMID:25741868 PMID:26082470 PMID:27050234 PMID:27761240 PMID:28492532 PMID:29325022 PMID:29420171 More...
NCBI chr 1:77,417,496...77,428,903
Ensembl chr 1:77,417,477...77,428,905
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile, 1
OMIM ClinVar
PMID:3490596 PMID:19961857 PMID:21675912 PMID:22047571 PMID:22100522 PMID:22112808 PMID:23001465 PMID:23293122 PMID:23423976 PMID:23470222 PMID:23485543 PMID:24033266 PMID:24518185 PMID:25194629 PMID:25375986 PMID:25446019 PMID:25741868 PMID:26097993 PMID:26117226 PMID:26214117 PMID:26846157 PMID:27394135 PMID:27798933 PMID:28109821 PMID:28470390 PMID:28492532 More...
NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
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Kl
Klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20394945
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Idiopathic hypercalcemia of infancy
ClinVar
PMID:24033266
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile, 2
OMIM ClinVar
PMID:16199547 PMID:20466674 PMID:24033266 PMID:25741868 PMID:26047794 PMID:26787776 PMID:28492532 PMID:28893421 PMID:29959532 More...
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Infantile hypercalcemia CTD Direct Evidence: marker/mechanism
ClinVar CTD
NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
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Slc34a1
solute carrier family 34 member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypercalcemia, infantile
CTD ClinVar
PMID:24033266
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: SHORT syndrome
OMIM ClinVar
PMID:6407320 PMID:7705412 PMID:8574420 PMID:9536098 PMID:10768093 PMID:11135494 PMID:12514365 PMID:16199547 PMID:17576681 PMID:18384141 PMID:18414213 PMID:22351933 PMID:23810378 PMID:23810379 PMID:23810382 PMID:23980586 PMID:24033266 PMID:24088041 PMID:24459181 PMID:24728327 PMID:24886349 PMID:25133428 PMID:25157968 PMID:25326637 PMID:25488983 PMID:25741868 PMID:25939554 PMID:26529633 PMID:26633545 PMID:27076228 PMID:27116393 PMID:27693481 PMID:28143957 PMID:28302518 PMID:28492532 PMID:32499645 PMID:34008892 More...
NCBI chr 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631
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