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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Avpr1b
arginine vasopressin receptor 1B
ISO
RGD
PMID:28692683
RGD:14700668
NCBI chr13:43,046,531...43,059,046
Ensembl chr13:43,046,267...43,057,792
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
IAGP
RGD
PMID:12036912
RGD:619590
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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Cdkn1bwe
cyclin-dependent kinase inhibitor 1B; white eye mutation
IAGP
RGD
PMID:12036912
RGD:619590
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Grk2
G protein-coupled receptor kinase 2
ISO
mRNA:altered expression:pituitary gland (human)
RGD
PMID:24169548
RGD:13792706
NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
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Aip
aryl-hydrocarbon receptor-interacting protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pituitary adenoma, acth-secreting, somatic
CTD ClinVar
PMID:17360484 PMID:18381572 PMID:19366855 PMID:20506337 PMID:20530095 PMID:21454441 PMID:21753072 PMID:22319033 PMID:22720333 PMID:23300914 PMID:23321498 PMID:23633209 PMID:24033266 PMID:25093619 PMID:25184284 PMID:25203624 PMID:25333069 PMID:25741868 PMID:27153395 PMID:28492532 PMID:29074612 PMID:30461320 PMID:32324286 More...
NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122
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Avpr1b
arginine vasopressin receptor 1B
ISO
RGD
PMID:23884782
RGD:14700670
NCBI chr13:43,046,531...43,059,046
Ensembl chr13:43,046,267...43,057,792
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Bmp4
bone morphogenetic protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16195406
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Usp8
ubiquitin specific peptidase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM
PMID:25485838
NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666
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Aip
aryl-hydrocarbon receptor-interacting protein
ISO
ClinVar Annotator: match by term: Familial isolated pituitary adenoma
ClinVar
PMID:16728643 PMID:17242703 PMID:17244780 PMID:17609395 PMID:18484068 PMID:19474519 PMID:20506337 PMID:21348957 PMID:21753072 PMID:22319033 PMID:22720333 PMID:22915287 PMID:24050928 PMID:25184284 PMID:25614825 PMID:25741868 PMID:26186299 PMID:26792934 PMID:28255869 PMID:28492532 PMID:29074612 More...
NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122
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Alk
ALK receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Familial isolated pituitary adenoma
ClinVar
PMID:9536098 PMID:17576681 PMID:21838707 PMID:22072639 PMID:23104988 PMID:25741868 PMID:28492532 PMID:32984025 More...
NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
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Gnai2
G protein subunit alpha i2
ISO
ClinVar Annotator: match by term: Familial isolated pituitary adenoma
ClinVar
PMID:25741868
NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
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Aip
aryl-hydrocarbon receptor-interacting protein
ISO
ClinVar Annotator: match by term: Somatotroph adenoma
ClinVar
PMID:2200621 PMID:5320367 PMID:9482716 PMID:9536098 PMID:12213383 PMID:12810716 PMID:16728643 PMID:17242703 PMID:17244780 PMID:17299063 PMID:17341560 PMID:17360484 PMID:17371465 PMID:17576681 PMID:17609395 PMID:18381572 PMID:18410548 PMID:18484068 PMID:19366855 PMID:19474519 PMID:19556287 PMID:19684062 PMID:19955762 PMID:20354355 PMID:20457215 PMID:20506337 PMID:20507346 PMID:20530095 PMID:20570174 PMID:20595802 PMID:20685857 PMID:21208107 PMID:21340166 PMID:21348957 PMID:21454441 PMID:21512261 PMID:21753072 PMID:21984905 PMID:22287093 PMID:22319033 PMID:22720333 PMID:22915287 PMID:23038625 PMID:23038925 PMID:23300914 PMID:23321498 PMID:23371967 PMID:23633209 PMID:23743763 PMID:24033266 PMID:24050928 PMID:24078436 PMID:24423289 PMID:24789813 PMID:25019383 PMID:25093619 PMID:25184284 PMID:25203624 PMID:25333069 PMID:25350067 PMID:25614825 PMID:25741868 PMID:26186299 PMID:26792934 PMID:27033541 PMID:27153395 PMID:27253664 PMID:27267386 PMID:27650164 PMID:28220018 PMID:28255869 PMID:28427099 PMID:28492532 PMID:28634279 PMID:29036195 PMID:29074612 PMID:29308445 PMID:29455389 PMID:29507682 PMID:29632148 PMID:29729370 PMID:30262796 PMID:30461320 PMID:30822274 PMID:30941100 PMID:32324286 PMID:34588620 PMID:35586626 More...
NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
protein:increased expression:pituitary gland:
RGD
PMID:18981426
RGD:8662821
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Gh1
growth hormone 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1611713 PMID:2042694
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Gnas
GNAS complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11254676
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Gpr101
G protein-coupled receptor 101
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958
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Hpgd
15-hydroxyprostaglandin dehydrogenase
ISO
mRNA:decreased expression:pituitary gland
RGD
PMID:22580984
RGD:11667097
NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228
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Men1
menin 1
ISS ISO
OMIM:102200 ClinVar Annotator: match by term: Somatotroph adenoma
MouseDO ClinVar
PMID:30630164
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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Prl
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2042694
NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
mRNA:increased expression:pituitary gland
RGD
PMID:22580984
RGD:11667097
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Gpr101
G protein-coupled receptor 101
ISO
ClinVar Annotator: match by term: Pituitary adenoma, growth hormone-secreting, 2
OMIM ClinVar
PMID:25470569 PMID:25806919 PMID:25806920 PMID:25806921 PMID:26792934 PMID:26815903 PMID:27245663 PMID:27498687 PMID:28492532 PMID:29389097 More...
NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958
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Aip
aryl-hydrocarbon receptor-interacting protein
ISO
ClinVar Annotator: match by term: PITUITARY ADENOMA 1, MULTIPLE TYPES CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16728643 PMID:17341560 PMID:17360484 PMID:18381572 PMID:19366855 PMID:20506337 PMID:20530095 PMID:21454441 PMID:21753072 PMID:22319033 PMID:22720333 PMID:23300914 PMID:23321498 PMID:23633209 PMID:24033266 PMID:25093619 PMID:25184284 PMID:25203624 PMID:25333069 PMID:25741868 PMID:27153395 PMID:28492532 PMID:29074612 PMID:30461320 PMID:32324286 More...
NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122
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Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: Pituitary adenoma 3, multiple types
OMIM ClinVar
PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7737262 PMID:7739708 PMID:8702665 PMID:8766942 PMID:9626141 PMID:9876352 PMID:11093740 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:12727968 PMID:12970318 PMID:15126527 PMID:15711092 PMID:15952988 PMID:16507630 PMID:16543670 PMID:17493233 PMID:17873334 PMID:18553568 PMID:18796523 PMID:20197676 PMID:20427508 PMID:21835143 PMID:23281139 PMID:23403822 PMID:23536913 PMID:23796510 PMID:23843956 PMID:24481334 PMID:24626099 PMID:24855271 PMID:25044890 PMID:25157968 PMID:25219572 PMID:25719192 PMID:25741868 PMID:25802881 PMID:26619011 PMID:27398169 PMID:27506760 PMID:28492532 PMID:29059381 PMID:29072892 PMID:30349702 PMID:30674755 PMID:30702195 PMID:30729047 PMID:31793173 PMID:31886927 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 More...
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Aip
aryl-hydrocarbon receptor-interacting protein
ISO
ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types
ClinVar
PMID:28492532
NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122
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C20h10orf105
similar to human chromosome 10 open reading frame 105
ISO
ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types
ClinVar
PMID:12075507 PMID:15537665 PMID:18273900 PMID:21228398 PMID:24033266 PMID:24875298 PMID:25468891 PMID:25741868 PMID:26467025 PMID:28413019 PMID:28492532 More...
NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487
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Cdh23
cadherin-related 23
ISO
ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types
OMIM ClinVar
PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:15353998 PMID:15537665 PMID:15660226 PMID:16281288 PMID:16679490 PMID:17407589 PMID:17576681 PMID:17850630 PMID:18273900 PMID:18323324 PMID:18368581 PMID:18429043 PMID:18484607 PMID:19683999 PMID:20146813 PMID:20513143 PMID:20613545 PMID:21228398 PMID:21436283 PMID:21569298 PMID:21940737 PMID:22135276 PMID:22443853 PMID:22899989 PMID:22995991 PMID:23451239 PMID:23591405 PMID:23757202 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24164807 PMID:24416283 PMID:24498627 PMID:24618850 PMID:24767429 PMID:24875298 PMID:25231367 PMID:25279224 PMID:25333064 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25525159 PMID:25587757 PMID:25605338 PMID:25741868 PMID:25788563 PMID:25963016 PMID:26226137 PMID:26264712 PMID:26399936 PMID:26445815 PMID:26467025 PMID:26763877 PMID:26969326 PMID:27068579 PMID:27349180 PMID:27583405 PMID:27627659 PMID:27743452 PMID:27792758 PMID:27884173 PMID:28383030 PMID:28413019 PMID:28483220 PMID:28492532 PMID:28847902 PMID:29148562 PMID:29986705 PMID:30029624 PMID:30033219 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30367262 PMID:30459346 PMID:30718709 PMID:31054281 PMID:31152317 PMID:31541171 PMID:32467589 PMID:32991204 PMID:35020051 PMID:35186827 More...
NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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Men1
menin 1
ISO
ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types
ClinVar
PMID:28492532
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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Vsir
V-set immunoregulatory receptor
ISO
ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types
ClinVar
PMID:25741868
NCBI chr20:28,281,582...28,307,262
Ensembl chr20:28,281,596...28,303,878
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Bmp4
bone morphogenetic protein 4
IEP ISO
protein:increased expression:pituitary gland CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16809920 PMID:12552124
RGD:629544
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Cebpd
CCAAT/enhancer binding protein delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21980073
NCBI chr11:84,764,670...84,765,808
Ensembl chr11:84,764,565...84,765,829
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Hpgd
15-hydroxyprostaglandin dehydrogenase
ISO
mRNA:decreased expression:pituitary gland
RGD
PMID:22580984
RGD:11667097
NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228
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Lrp2
LDL receptor related protein 2
ISO
ClinVar Annotator: match by term: Prolactinoma, familial
ClinVar
PMID:17632512 PMID:25682901 PMID:25741868 PMID:28492532
NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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Men1
menin 1
ISS
OMIM:600634
MouseDO
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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Myc
MYC proto-oncogene, bHLH transcription factor
IEP
mRNA:increased expression:pituitary gland (rat)
RGD
PMID:22635680
RGD:7240531
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Nog
noggin
ISO
mRNA, protein:decreased expression:pituitary
RGD
PMID:12552124
RGD:629544
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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Npy5r
neuropeptide Y receptor Y5
IEP
protein:increased expression:pars anterior
RGD
PMID:11026575
RGD:1625506
NCBI chr16:23,055,427...23,063,384
Ensembl chr16:23,055,427...23,063,382
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Prl
prolactin
IEP ISO IAGP
mRNA:increased expression:pituitary gland CTD Direct Evidence: marker/mechanism DNA:mutation
CTD RGD
PMID:718334 PMID:1407345 PMID:3776530 PMID:9617019 PMID:17260475 PMID:17260475 More...
RGD:1642576 , RGD:1642576
NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
mRNA:increased expression:pituitary gland
RGD
PMID:22580984
RGD:11667097
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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