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: endocrine organ benign neoplasm
Accession: DOID:0060089
browse the term
Definition: An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. (DO)
Synonyms: primary_id: RDO:9002416
For additional species annotation, visit the
Alliance of Genome Resources .
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Aip
aryl-hydrocarbon receptor-interacting protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: PITUITARY ADENOMA 4, ACTH-SECRETING
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
NCBI chr 1:219,361,859...219,373,924
Ensembl chr 1:219,361,860...219,374,014
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Avpr1b
arginine vasopressin receptor 1B
ISO
RGD
PMID:23884782
RGD:14700670
NCBI chr13:48,367,307...48,378,831
Ensembl chr13:48,367,307...48,378,831
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Bmp4
bone morphogenetic protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16195406
NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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Usp8
ubiquitin specific peptidase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM
PMID:25485838
NCBI chr 3:119,173,818...119,222,499
Ensembl chr 3:119,173,818...119,222,484
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Atp1a1
ATPase Na+/K+ transporting subunit alpha 1
ISO
ClinVar Annotator: match by term: Aldosterone Producing Adrenal Cortex Adenoma
ClinVar
PMID:23416519
NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
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Atp2b3
ATPase plasma membrane Ca2+ transporting 3
ISO
ClinVar Annotator: match by term: Aldosterone Producing Adrenal Cortex Adenoma
ClinVar
PMID:23416519
NCBI chr X:157,236,400...157,312,028
Ensembl chr X:157,239,306...157,312,028
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Cyp11b1
cytochrome P450, family 11, subfamily b, polypeptide 1
ISO
mRNA:decreased expression:adrenal gland (human)
RGD
PMID:12457455
RGD:4891170
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
ISO
mRNA:increased expression:adrenal gland (human)
RGD
PMID:12457455
RGD:4891170
NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
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Cyp11b3
cytochrome P450, family 11, subfamily b, polypeptide 3
ISO
mRNA:increased expression:adrenal gland (human)
RGD
PMID:12457455
RGD:4891170
NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
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Prkaca
protein kinase cAMP-activated catalytic subunit alpha
ISO
associated with Cushing syndrome;DNA:point mutation:CDS:p.L206R (c.617T>G) (human)
RGD
PMID:24855271
RGD:13515122
NCBI chr19:25,095,089...25,118,869
Ensembl chr19:25,095,089...25,118,860
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Prkacb
protein kinase cAMP-activated catalytic subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29669941
NCBI chr 2:252,602,197...252,691,886
Ensembl chr 2:252,605,307...252,691,886
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Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA
ClinVar
PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25494863 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26490314 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28819017 PMID:29872718 PMID:30068732
NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
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Sdhb
succinate dehydrogenase complex iron sulfur subunit B
ISO
ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA
ClinVar
PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 PMID:17200167 PMID:17667967 PMID:17884808 PMID:19001511 PMID:19215943 PMID:19802898 PMID:21820839 PMID:23282968 PMID:24033266 PMID:25371406 PMID:25683602 PMID:25741868 PMID:25972245 PMID:26173966 PMID:26467025 PMID:26916530 PMID:28070496 PMID:28152038 PMID:28349240 PMID:28374168 PMID:28492532 PMID:28738844 PMID:29386252
NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064
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Sdhc
succinate dehydrogenase complex subunit C
ISO
ClinVar Annotator: match by term: Carney triad
ClinVar
PMID:12658451 PMID:17667967 PMID:17804857 PMID:19351833 PMID:21173220 PMID:21822798 PMID:24402737 PMID:26173966 PMID:28492532
NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
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Alg9
ALG9, alpha-1,2-mannosyltransferase
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:28492532
NCBI chr 8:55,202,140...55,265,478
Ensembl chr 8:55,202,725...55,265,478
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Btg4
BTG anti-proliferation factor 4
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:28492532
NCBI chr 8:55,408,917...55,508,100
Ensembl chr 8:55,504,359...55,508,259
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Colca2
colorectal cancer associated 2
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:28492532
NCBI chr 8:55,674,561...55,682,811
Ensembl chr 8:55,674,840...55,681,930
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Cryab
crystallin, alpha B
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:28492532
NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
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Dixdc1
DIX domain containing 1
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:28492532
NCBI chr 8:55,091,232...55,164,636
Ensembl chr 8:55,091,235...55,162,421
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Dlat
dihydrolipoamide S-acetyltransferase
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:28492532
NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832
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Fdxacb1
ferredoxin-fold anticodon binding domain containing 1
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:28492532
NCBI chr 8:55,196,758...55,201,610
Ensembl chr 8:55,196,758...55,201,199
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Hoatz
HOATZ cilia and flagella associated protein
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:28492532
NCBI chr 8:55,471,705...55,490,973
Ensembl chr 8:55,471,701...55,491,152
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Hspb2
heat shock protein family B (small) member 2
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:28492532
NCBI chr 8:55,176,648...55,178,227
Ensembl chr 8:55,176,847...55,177,818
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Layn
layilin
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:28492532
NCBI chr 8:55,447,203...55,469,420
Ensembl chr 8:55,447,709...55,467,688
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LOC689959
hypothetical protein LOC689959
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:28492532
NCBI chr 8:55,164,736...55,174,613
Ensembl chr 8:55,164,736...55,171,718
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Mir34b
microRNA 34b
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:28492532
NCBI chr 8:55,492,542...55,492,625
Ensembl chr 8:55,492,542...55,492,625
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Mir34c
microRNA 34c
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:28492532
NCBI chr 8:55,492,024...55,492,100
Ensembl chr 8:55,492,024...55,492,100
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Nkapd1
NKAP domain containing 1
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:28492532
NCBI chr 8:55,039,731...55,050,259
Ensembl chr 8:55,038,597...55,050,194
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Pih1d2
PIH1 domain containing 2
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:28492532
NCBI chr 8:55,050,284...55,060,289
Ensembl chr 8:55,050,284...55,058,474
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Pou2af1
POU class 2 homeobox associating factor 1
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:28492532
NCBI chr 8:55,603,968...55,631,448
Ensembl chr 8:55,603,968...55,631,446
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Ppp2r1b
protein phosphatase 2 scaffold subunit A beta
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:28492532
NCBI chr 8:55,279,278...55,311,768
Ensembl chr 8:55,279,373...55,301,320
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RGD1564937
similar to RIKEN cDNA 1110032A03
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:28492532
NCBI chr 8:55,169,413...55,194,692
Ensembl chr 8:55,191,085...55,194,692
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Sdhb
succinate dehydrogenase complex iron sulfur subunit B
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar Annotator: match by term: Paraganglioma and gastric stromal sarcoma ClinVar Annotator: match by OMIM:606864
OMIM ClinVar
PMID:9509062 PMID:11404820 PMID:11897817 PMID:12205103 PMID:12351569 PMID:12362046 PMID:12364472 PMID:12618761 PMID:14500403 PMID:14643060 PMID:14715873 PMID:14985401 PMID:15328326 PMID:15383933 PMID:15476441 PMID:15883710 PMID:16001332 PMID:16314641 PMID:16317055 PMID:16322339 PMID:16405730 PMID:16472267 PMID:16912137 PMID:17102082 PMID:17102083 PMID:17102084 PMID:17200167 PMID:17298551 PMID:17376234 PMID:17639058 PMID:17652212 PMID:17667967 PMID:17804857 PMID:17848412 PMID:17943698 PMID:18362451 PMID:18382370 PMID:18419787 PMID:18551016 PMID:18678321 PMID:18840642 PMID:19215943 PMID:19258401 PMID:19351833 PMID:19368708 PMID:19399650 PMID:19411806 PMID:19454582 PMID:19694205 PMID:19802898 PMID:19825962 PMID:20208144 PMID:20418362 PMID:20459544 PMID:20540712 PMID:20592014 PMID:20614293 PMID:20923864 PMID:21348866 PMID:21565294 PMID:21909610 PMID:21934479 PMID:21979946 PMID:22270996 PMID:22703879 PMID:22835832 PMID:22995991 PMID:23072324 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23512077 PMID:23660872 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24466223 PMID:24509376 PMID:24659481 PMID:24728327 PMID:24939699 PMID:25047027 PMID:25326637 PMID:25333069 PMID:25637381 PMID:25694510 PMID:25695889 PMID:25741868 PMID:25972245 PMID:26092435 PMID:26259135 PMID:26269449 PMID:26273102 PMID:26283294 PMID:26467025 PMID:26556299 PMID:26719882 PMID:27171833 PMID:27539324 PMID:27573198 PMID:27604842 PMID:28324028 PMID:28374168 PMID:28492532 PMID:28503760 PMID:29386252 PMID:29951630 PMID:163114641
NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064
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Sdhc
succinate dehydrogenase complex subunit C
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
OMIM ClinVar
PMID:12658451 PMID:17667967 PMID:17804857 PMID:21173220 PMID:24402737 PMID:26173966 PMID:28492532
NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
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Sdhd
succinate dehydrogenase complex subunit D
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor ClinVar Annotator: match by term: Paraganglioma and gastric stromal sarcoma
OMIM ClinVar
PMID:1606155 PMID:1945482 PMID:9683583 PMID:10657297 PMID:10846047 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11391798 PMID:11526495 PMID:11605159 PMID:11897817 PMID:12000816 PMID:12007193 PMID:12111639 PMID:12114404 PMID:12386824 PMID:12509798 PMID:12612654 PMID:12696072 PMID:12782822 PMID:12811540 PMID:14557476 PMID:14985401 PMID:15032977 PMID:15066320 PMID:15328326 PMID:15331017 PMID:15479192 PMID:15531530 PMID:15623805 PMID:15989954 PMID:16061558 PMID:16080474 PMID:16314641 PMID:16317055 PMID:17102085 PMID:17308434 PMID:17406045 PMID:17563904 PMID:17576205 PMID:17667967 PMID:17804857 PMID:17848412 PMID:17973943 PMID:18211978 PMID:18414213 PMID:18551016 PMID:18561749 PMID:18678321 PMID:18692411 PMID:18826997 PMID:19075037 PMID:19258401 PMID:19351833 PMID:19454582 PMID:19584903 PMID:19802898 PMID:19825962 PMID:20098451 PMID:20111059 PMID:20418362 PMID:20842377 PMID:21348866 PMID:21565294 PMID:21792967 PMID:21937622 PMID:21945342 PMID:21979946 PMID:22025150 PMID:22241717 PMID:22290790 PMID:22382802 PMID:22456618 PMID:22517554 PMID:22566194 PMID:22584711 PMID:22703879 PMID:22829200 PMID:23175444 PMID:23433498 PMID:23512077 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24134185 PMID:24367056 PMID:24436918 PMID:24728327 PMID:24758185 PMID:24886695 PMID:25014000 PMID:25149476 PMID:25275255 PMID:25300370 PMID:25326637 PMID:25376524 PMID:25494863 PMID:25637381 PMID:25694510 PMID:25695889 PMID:25720320 PMID:25741136 PMID:25741868 PMID:25758995 PMID:25791839 PMID:25819804 PMID:25985138 PMID:26008905 PMID:26096992 PMID:26269449 PMID:26467025 PMID:27153395 PMID:27279923 PMID:27539324 PMID:27785149 PMID:27986441 PMID:28128698 PMID:28164237 PMID:28492532 PMID:28977582 PMID:29386252 PMID:29875428 PMID:30050099 PMID:30273935 PMID:31492822 PMID:32035780
NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
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Sik2
salt-inducible kinase 2
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:28492532
NCBI chr 8:55,309,005...55,408,608
Ensembl chr 8:55,308,757...55,408,464
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Timm8b
translocase of inner mitochondrial membrane 8 homolog B
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:28492532
NCBI chr 8:55,037,750...55,039,130
Ensembl chr 8:55,037,750...55,039,128
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Sdhd
succinate dehydrogenase complex subunit D
ISO
ClinVar Annotator: match by term: PARAGANGLIOMA, CAROTID BODY ClinVar Annotator: match by term: Carotid body paraganglioma
ClinVar
PMID:10657297 PMID:11156372 PMID:11391796 PMID:11526495 PMID:12007193 PMID:12111639 PMID:12386824 PMID:12612654 PMID:12696072 PMID:14557476 PMID:15032977 PMID:15066320 PMID:15623805 PMID:17576205 PMID:18678321 PMID:19351833 PMID:19454582 PMID:21565294 PMID:21945342 PMID:21979946 PMID:22241717 PMID:22584711 PMID:22703879 PMID:23175444 PMID:23666964 PMID:24033266 PMID:24728327 PMID:24886695 PMID:25149476 PMID:25694510 PMID:25695889 PMID:25741868 PMID:26467025 PMID:27153395 PMID:27279923 PMID:28128698 PMID:28164237 PMID:28492532 PMID:29386252
NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
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Men1
menin 1
ISO
associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: :
RGD
PMID:17135306
RGD:2317341
NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
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Hnf1a
HNF1 homeobox A
ISO
ClinVar Annotator: match by term: Hepatic adenomas, familial
OMIM ClinVar
PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 PMID:9166684 PMID:9313763 PMID:9439666 PMID:10333057 PMID:10447526 PMID:10754480 PMID:11058894 PMID:11315851 PMID:12050210 PMID:12355088 PMID:12530534 PMID:12574234 PMID:12618559 PMID:15649945 PMID:15928245 PMID:17054605 PMID:17407387 PMID:17440016 PMID:17573900 PMID:17937063 PMID:17989309 PMID:18414213 PMID:18672310 PMID:21051477 PMID:21628466 PMID:23551881 PMID:23607861 PMID:25174781 PMID:26467025 PMID:28862987 PMID:29417725 PMID:30814848
NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
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Aip
aryl-hydrocarbon receptor-interacting protein
ISO
ClinVar Annotator: match by term: Familial Isolated Pituitary Adenomas ClinVar Annotator: match by term: Pituitary adenoma, familial isolated
ClinVar
PMID:26186299
NCBI chr 1:219,361,859...219,373,924
Ensembl chr 1:219,361,860...219,374,014
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Gnai2
G protein subunit alpha i2
ISO
ClinVar Annotator: match by term: Familial Isolated Pituitary Adenomas
ClinVar
PMID:25741868
NCBI chr 8:116,370,730...116,391,337
Ensembl chr 8:116,370,744...116,391,307
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Minpp1
multiple inositol-polyphosphate phosphatase 1
ISO
ClinVar Annotator: match by term: Thyroid adenoma, follicular
ClinVar
PMID:11297621
NCBI chr 1:251,045,352...251,071,045
Ensembl chr 1:251,045,440...251,071,040
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Sdhd
succinate dehydrogenase complex subunit D
ISO
ClinVar Annotator: match by term: Glomus tumors familial 1
ClinVar
PMID:10657297 PMID:11156372 PMID:11526495 PMID:12007193 PMID:12111639 PMID:12386824 PMID:12696072 PMID:14557476 PMID:15032977 PMID:15623805 PMID:18678321 PMID:21565294 PMID:21979946 PMID:22584711 PMID:22703879 PMID:23175444 PMID:23666964 PMID:24033266 PMID:24728327 PMID:24886695 PMID:25149476 PMID:25694510 PMID:25695889 PMID:25741868 PMID:26467025 PMID:27153395 PMID:27279923 PMID:28128698 PMID:28164237 PMID:28492532 PMID:29386252
NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
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Srebf2
sterol regulatory element binding transcription factor 2
ISO
RGD
PMID:16316337
RGD:1581416
NCBI chr 7:123,381,082...123,438,605
Ensembl chr 7:123,381,077...123,438,603
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Vegfa
vascular endothelial growth factor A
ISO
mRNA:increased expression: :
RGD
PMID:20030694
RGD:8547978
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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Glmn
glomulin, FKBP associated protein
ISO
ClinVar Annotator: match by OMIM:138000 ClinVar Annotator: match by term: Glomuvenous malformations
ClinVar OMIM
PMID:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr14:3,204,390...3,247,703
Ensembl chr14:3,204,390...3,247,695
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Aip
aryl-hydrocarbon receptor-interacting protein
ISO
ClinVar Annotator: match by OMIM:102200 ClinVar Annotator: match by term: Somatotroph adenoma CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:2200621 PMID:5320367 PMID:12213383 PMID:16728643 PMID:17242703 PMID:17244780 PMID:17299063 PMID:17341560 PMID:17360484 PMID:17371465 PMID:17609395 PMID:18381572 PMID:18484068 PMID:19366855 PMID:19474519 PMID:19556287 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:24423289 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:29074612 PMID:29308445 PMID:29729370 PMID:30262796 PMID:30461320 PMID:30941100 PMID:32324286
NCBI chr 1:219,361,859...219,373,924
Ensembl chr 1:219,361,860...219,374,014
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
protein:increased expression:pituitary gland:
RGD
PMID:18981426
RGD:8662821
NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
G
Gh1
growth hormone 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1611713 PMID:2042694
NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
G
Gnas
GNAS complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11254676
NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483 Ensembl chr 3:172,374,957...172,428,483
G
Gpr101
G protein-coupled receptor 101
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr X:140,296,220...140,303,743
Ensembl chr X:140,299,770...140,303,686
G
Hpgd
15-hydroxyprostaglandin dehydrogenase
ISO
mRNA:decreased expression:pituitary gland
RGD
PMID:22580984
RGD:11667097
NCBI chr16:37,457,134...37,495,758
Ensembl chr16:37,457,135...37,495,758
G
Men1
menin 1
ISS ISO
OMIM:102200 ClinVar Annotator: match by term: Somatotroph adenoma
MouseDO ClinVar
PMID:30630164
NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
G
Prl
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2042694
NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
G
Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
mRNA:increased expression:pituitary gland
RGD
PMID:22580984
RGD:11667097
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
G
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
NCBI chr X:140,296,220...140,303,743
Ensembl chr X:140,299,770...140,303,686
G
Tsc2
TSC complex subunit 2
IAGP
DNA:mutations:multiple associated with tuberous sclerosis;DNA:mutations:multiple
RGD
PMID:29512829 , PMID:22251200
RGD:21079730 , RGD:21079732
NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
G
A2m
alpha-2-macroglobulin
IEP ISO
mRNA,protein:increased expression:liver: CTD Direct Evidence: marker/mechanism
CTD
PMID:15509519 , PMID:15509519
RGD:1358261
NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
G
Carm1
coactivator-associated arginine methyltransferase 1
IEP
mRNA,protein:increased expression:liver:
RGD
PMID:23912631
RGD:9586718
NCBI chr 8:22,577,723...22,622,555
Ensembl chr 8:22,577,715...22,622,560
G
Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17620307
NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
G
Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21147764
NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
G
Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
treatment
IEP
RGD
PMID:23543859
RGD:14700918
NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
G
Cyp3a23-3a1
cytochrome P450, family 3, subfamily a, polypeptide 23-polypeptide 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:10959800
NCBI chr12:11,053,888...11,082,742
Ensembl chr12:11,655,402...11,733,136
G
Hnf1a
HNF1 homeobox A
susceptibility
IAGP
DNA:loss of heterozygosity, mutations:multiple DNA:frameshift mutation, non-sense mutation:cds:R229X, G55fsX57 (human)
RGD
PMID:12355088 , PMID:14598263
RGD:14700683 , RGD:14700774
NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
G
Hp
haptoglobin
IEP
RGD
PMID:10569800
RGD:1626391
NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
G
Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8200073
NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
G
Kras
KRAS proto-oncogene, GTPase
induced
IAGP
aflatoxin B1 induced:DNA:transversion,transition mutations:cds:
RGD
PMID:8446626
RGD:11568697
NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
G
Mki67
marker of proliferation Ki-67
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31939706
NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
G
Nr1h4
nuclear receptor subfamily 1, group H, member 4
ISO
RGD
PMID:17183066
RGD:14696794
NCBI chr 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
G
Nr1i3
nuclear receptor subfamily 1, group I, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25656644
NCBI chr13:89,585,072...89,591,278
Ensembl chr13:89,586,283...89,591,277
G
Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27022031 , PMID:15199412
RGD:1302555
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
G
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISS
MouseDO
NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
G
Tmem70
transmembrane protein 70
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27914986
NCBI chr 5:2,019,852...2,037,038
Ensembl chr 5:2,019,852...2,037,038
G
Ube2e2
ubiquitin-conjugating enzyme E2E 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27914986
NCBI chr15:7,402,210...7,928,320
Ensembl chr15:7,871,497...7,927,939
G
Max
MYC associated factor X
ISO
ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes
ClinVar
PMID:1459463 PMID:1730412 PMID:7630640 PMID:21685915 PMID:22452945 PMID:23551045 PMID:23666964 PMID:25741868 PMID:26070438 PMID:26269449 PMID:27838885 PMID:27903915 PMID:28152038 PMID:28492532
NCBI chr 6:99,984,260...100,011,460
Ensembl chr 6:99,984,260...100,011,388
G
Mpz
myelin protein zero
ISO
ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes
ClinVar
PMID:12807974 PMID:17468193 PMID:23342407
NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
G
Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes
ClinVar
PMID:11423010 PMID:17298551 PMID:17376234 PMID:20484225 PMID:21858060 PMID:22904323 PMID:23666964 PMID:24033266 PMID:25741868 PMID:28384794 PMID:28492532 PMID:28546994 PMID:28724664 PMID:28873162 PMID:30201732
NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
G
Sdhaf2
succinate dehydrogenase complex assembly factor 2
ISO
ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes
ClinVar
PMID:6264239 PMID:6286462 PMID:19628817 PMID:20071235 PMID:21224366 PMID:21348866 PMID:22241717 PMID:22703879 PMID:23666964 PMID:24033266 PMID:24414418 PMID:24712571 PMID:25741868 PMID:26016412 PMID:26096992 PMID:28099933 PMID:28492532 PMID:31687641
NCBI chr 1:226,543,671...226,572,414
Ensembl chr 1:226,547,531...226,572,349
G
Sdhb
succinate dehydrogenase complex iron sulfur subunit B
ISO
ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes
ClinVar
PMID:490809 PMID:2308387 PMID:9509062 PMID:11404820 PMID:11897817 PMID:12000816 PMID:12205103 PMID:12213855 PMID:12351569 PMID:12362046 PMID:12364472 PMID:12560550 PMID:12618761 PMID:12807974 PMID:13129931 PMID:14500403 PMID:14643060 PMID:14685938 PMID:14715873 PMID:14974914 PMID:14985401 PMID:15235042 PMID:15328326 PMID:15476441 PMID:15883710 PMID:15987702 PMID:15988378 PMID:15989954 PMID:16001332 PMID:16103922 PMID:16288654 PMID:16314641 PMID:16317055 PMID:16322339 PMID:16405730 PMID:16472267 PMID:16912137 PMID:16916404 PMID:16982587 PMID:17102082 PMID:17102083 PMID:17102084 PMID:17143317 PMID:17200167 PMID:17298551 PMID:17308434 PMID:17376234 PMID:17487275 PMID:17538171 PMID:17639058 PMID:17652212 PMID:17667967 PMID:17804857 PMID:17848412 PMID:17884808 PMID:17943698 PMID:18362451 PMID:18382370 PMID:18419787 PMID:18519664 PMID:18551016 PMID:18678321 PMID:18728283 PMID:18840642 PMID:19001511 PMID:19064958 PMID:19075037 PMID:19184535 PMID:19189136 PMID:19215943 PMID:19258401 PMID:19261994 PMID:19351833 PMID:19368708 PMID:19393419 PMID:19399650 PMID:19411806 PMID:19415531 PMID:19454582 PMID:19522823 PMID:19576851 PMID:19596260 PMID:19694205 PMID:19802898 PMID:19825962 PMID:19927285 PMID:20119652 PMID:20208144 PMID:20213850 PMID:20418362 PMID:20459544 PMID:20503330 PMID:20505258 PMID:20540712 PMID:20583550 PMID:20592014 PMID:20614293 PMID:20923864 PMID:21172883 PMID:21173220 PMID:21348866 PMID:21520333 PMID:21565294 PMID:21820839 PMID:21909610 PMID:21934479 PMID:21979946 PMID:22041710 PMID:22270996 PMID:22429592 PMID:22517554 PMID:22517557 PMID:22703879 PMID:22835832 PMID:22904323 PMID:22995991 PMID:23072324 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23318864 PMID:23434467 PMID:23512077 PMID:23640968 PMID:23666964 PMID:23797725 PMID:23902947 PMID:23934599 PMID:24033266 PMID:24055113 PMID:24092654 PMID:24102379 PMID:24134185 PMID:24276837 PMID:24395865 PMID:24436918 PMID:24466223 PMID:24509376 PMID:24523625 PMID:24659481 PMID:24728327 PMID:24781345 PMID:24939699 PMID:25025441 PMID:25047027 PMID:25215250 PMID:25298897 PMID:25326637 PMID:25333069 PMID:25371406 PMID:25494863 PMID:25637381 PMID:25683602 PMID:25694510 PMID:25695889 PMID:25736212 PMID:25741868 PMID:25873086 PMID:25972245 PMID:26092435 PMID:26173966 PMID:26198225 PMID:26236513 PMID:26259135 PMID:26273102 PMID:26283294 PMID:26302408 PMID:26332594 PMID:26467025 PMID:26556299 PMID:26642834 PMID:26719882 PMID:26916530 PMID:27171833 PMID:27539324 PMID:27542510 PMID:27549546 PMID:27573198 PMID:27604842 PMID:27785149 PMID:28070496 PMID:28152038 PMID:28284009 PMID:28324028 PMID:28349240 PMID:28374168 PMID:28490599 PMID:28492532 PMID:28503760 PMID:28738844 PMID:28784873 PMID:28891197 PMID:28944243 PMID:28973655 PMID:29386252 PMID:29623478 PMID:29951630 PMID:30122763 PMID:30201732 PMID:30352407 PMID:31666924 PMID:32863293 PMID:163114641
NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064
G
Sdhc
succinate dehydrogenase complex subunit C
ISO
ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes
ClinVar
PMID:12658451 PMID:12807974 PMID:15989954 PMID:17298551 PMID:17468193 PMID:17667967 PMID:17804857 PMID:17898811 PMID:19351833 PMID:19454582 PMID:21106325 PMID:21173220 PMID:22703879 PMID:22868853 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23342407 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24402737 PMID:24423348 PMID:24466223 PMID:24523625 PMID:24728327 PMID:24758179 PMID:24781345 PMID:25024072 PMID:25394176 PMID:25637381 PMID:25741868 PMID:26173966 PMID:26273102 PMID:26467025 PMID:26492543 PMID:27153395 PMID:27279923 PMID:27700540 PMID:28412079 PMID:28492532 PMID:28819017 PMID:29386252 PMID:31308404
NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
G
Sdhd
succinate dehydrogenase complex subunit D
ISO
ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes
ClinVar
PMID:1945482 PMID:9683583 PMID:10657297 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11391798 PMID:11897817 PMID:12000816 PMID:12114404 PMID:12509798 PMID:12612654 PMID:12782822 PMID:12811540 PMID:15066320 PMID:15328326 PMID:15479192 PMID:15531530 PMID:16080474 PMID:16317055 PMID:17102085 PMID:17406045 PMID:17563904 PMID:17576205 PMID:17667967 PMID:17804857 PMID:17973943 PMID:18551016 PMID:18692411 PMID:19075037 PMID:19258401 PMID:19351833 PMID:19454582 PMID:19584903 PMID:19802898 PMID:19825962 PMID:20111059 PMID:20418362 PMID:21348866 PMID:21792967 PMID:21937622 PMID:21945342 PMID:22241717 PMID:22290790 PMID:22382802 PMID:22456618 PMID:22566194 PMID:22829200 PMID:23175444 PMID:23433498 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24367056 PMID:24436918 PMID:24758185 PMID:25014000 PMID:25275255 PMID:25300370 PMID:25326637 PMID:25494863 PMID:25695889 PMID:25720320 PMID:25741136 PMID:25741868 PMID:26008905 PMID:26096992 PMID:26269449 PMID:26467025 PMID:27279923 PMID:28492532 PMID:29386252 PMID:30050099 PMID:30273935 PMID:32035780
NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
G
Tmem127
transmembrane protein 127
ISO
ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes
ClinVar
PMID:20154675 PMID:20923864 PMID:21156949 PMID:21613359 PMID:22136840 PMID:22419703 PMID:22517554 PMID:22541004 PMID:23666964 PMID:24033266 PMID:24334765 PMID:24694336 PMID:25389632 PMID:25637381 PMID:25741868 PMID:25800244 PMID:26267327 PMID:26269449 PMID:26960314 PMID:28384794 PMID:28458909 PMID:28492532 PMID:28567294 PMID:28855235 PMID:29282712 PMID:29909963 PMID:30877234
NCBI chr 3:119,677,575...119,690,371
Ensembl chr 3:119,677,575...119,690,366
G
Adm
adrenomedullin
ISO
protein:increased expression:pancreas, plasma
RGD
PMID:11331218
RGD:2325319
NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
G
Btc
betacellulin
ISO
protein:increased expression:pancreas
RGD
PMID:10724350
RGD:2326087
NCBI chr14:18,231,854...18,270,621
Ensembl chr14:18,231,860...18,272,484
G
Cd40
CD40 molecule
ISO
RGD
PMID:17982058
RGD:5491180
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
G
Cxcl12
C-X-C motif chemokine ligand 12
ISO
protein:increased expression:pancreas
RGD
PMID:19013212
RGD:2317608
NCBI chr 4:149,261,044...149,273,891
Ensembl chr 4:149,261,044...149,273,891
G
Ins2
insulin 2
ISO
protein:altered expression:blood protein:altered localization:pancreas
RGD
PMID:8175958 , PMID:2565624
RGD:2317266 , RGD:2317268
NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
G
Men1
menin 1
disease_progression
ISO
DNA:deletion:exon CTD Direct Evidence: marker/mechanism DNA:deletions:exons
CTD
PMID:17961653 , PMID:12941803 , PMID:20138042 , PMID:19208834
RGD:2317292 , RGD:2317288 , RGD:2317310
NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
G
Ncam1
neural cell adhesion molecule 1
ISO
protein:increased expression:pancreas
RGD
PMID:8972754
RGD:2326080
NCBI chr 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358
G
Rps15
ribosomal protein S15
IEP
RGD
PMID:3019805
RGD:61740
NCBI chr 7:12,282,134...12,283,573
Ensembl chr 7:12,282,109...12,283,608
G
Slc2a2
solute carrier family 2 member 2
ISO
protein:increased expression:pancreatic B cell mRNA:decreased expression:pancreatic islet
RGD
PMID:12114701 , PMID:8421107
RGD:2324976 , RGD:2324977
NCBI chr 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
G
Tgfa
transforming growth factor alpha
ISO
protein:increased expression:pancreas
RGD
PMID:8712689
RGD:2317472
NCBI chr 4:117,961,877...118,045,923
Ensembl chr 4:117,962,319...118,046,344
G
Tgfb1
transforming growth factor, beta 1
ISO
mRNA, protein:decreased expression:pancreatic islet
RGD
PMID:18058603
RGD:2325017
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
G
Aldob
aldolase, fructose-bisphosphate B
IEP
protein:increased activity:liver (rat)
RGD
PMID:8264573
RGD:2313432
NCBI chr 5:64,805,772...64,818,813
Ensembl chr 5:64,805,773...64,818,824
G
Apobec1
apolipoprotein B mRNA editing enzyme catalytic subunit 1
IMP
RGD
PMID:9633945
RGD:10755510
NCBI chr 4:155,386,367...155,414,034
Ensembl chr 4:155,386,711...155,401,480
G
Cbx7
chromobox 7
ISO
RGD
PMID:22214847
RGD:9587356
NCBI chr 7:121,136,067...121,153,503
Ensembl chr 7:121,136,058...121,153,383
G
Cdkn1a
cyclin-dependent kinase inhibitor 1A
IEP
protein:increased expression:liver
RGD
PMID:23890812
RGD:13792775
NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
G
Col1a1
collagen type I alpha 1 chain
onset
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:21295105
RGD:5130894
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
G
Eif4g2
eukaryotic translation initiation factor 4, gamma 2
ISO
RGD
PMID:9633945
RGD:10755510
NCBI chr 1:175,883,362...175,895,510
Ensembl chr 1:175,883,363...175,895,510
G
H2ax
H2A.X variant histone
treatment
IEP
RGD
PMID:23474136
RGD:8693737
NCBI chr 8:48,665,652...48,666,981
Ensembl chr 8:48,665,652...48,666,981
G
Hspa4
heat shock protein family A (Hsp70) member 4
IEP
protein:increased expression:liver (rat)
RGD
PMID:22213170
RGD:5686872
NCBI chr10:38,601,624...38,642,397
Ensembl chr10:38,601,624...38,642,397
G
Il10
interleukin 10
treatment
IEP
RGD
PMID:25168696
RGD:11049493
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
G
Kmt5c
lysine methyltransferase 5C
disease_progression
IEP
protein:decreased expression:liver
RGD
PMID:16497704
RGD:9586726
NCBI chr 1:72,666,662...72,674,271
Ensembl chr 1:72,666,665...72,674,271
G
Map2k3
mitogen activated protein kinase kinase 3
ISO
RGD
PMID:24233520
RGD:7495808
NCBI chr10:45,089,455...45,110,802
Ensembl chr10:47,182,433...47,203,753
G
Met
MET proto-oncogene, receptor tyrosine kinase
onset
IEP
mRNA, protein:increased expression:neoplastic liver (rat)
RGD
PMID:11956651
RGD:2317546
NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
G
Mthfr
methylenetetrahydrofolate reductase
onset
IEP
mRNA:decreased expression:liver (rat)
RGD
PMID:22213190
RGD:6893663
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
G
Nqo1
NAD(P)H quinone dehydrogenase 1
IEP
RGD
PMID:24418717
RGD:11035219
NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
G
Ttpa
alpha tocopherol transfer protein
IEP
mRNA:decreased expression:liver
RGD
PMID:9178827
RGD:1600436
NCBI chr 5:34,007,926...34,029,315
Ensembl chr 5:34,007,920...34,028,452
G
Tut4
terminal uridylyl transferase 4
ISO
human cells in a mouse model
RGD
PMID:24056962
RGD:11530012
NCBI chr 5:128,063,880...128,168,726
Ensembl chr 5:128,083,118...128,168,207
G
Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
renal oncocytomas
RGD
PMID:15780567
RGD:2292414
NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
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Krt7
keratin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16927643
NCBI chr 7:143,059,731...143,075,907
Ensembl chr 7:143,059,764...143,075,907
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Mt-nd6
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
ISO
ClinVar Annotator: match by term: Oxyphilic adenoma
ClinVar
PMID:21555623
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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Pvalb
parvalbumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16927643
NCBI chr 7:119,428,657...119,443,674
Ensembl chr 7:119,429,019...119,441,487
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Kras
KRAS proto-oncogene, GTPase
severity
ISO
DNA:mutations:cds:
RGD
PMID:28570009
RGD:14398747
NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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Bap1
Brca1 associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25231345
NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
IAGP
RGD
PMID:12036912
RGD:619590
NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
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Cdkn1bwe
cyclin-dependent kinase inhibitor 1B; white eye mutation
IAGP
RGD
PMID:12036912
RGD:619590
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Mpz
myelin protein zero
ISO
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas
ClinVar
PMID:12807974 PMID:17468193 PMID:23342407
NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
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Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISS
OMIM:115310 | OMIM:168000 | OMIM:601650 | OMIM:605373 | OMIM:614165
MouseDO
NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
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Sdhaf2
succinate dehydrogenase complex assembly factor 2
ISS
OMIM:115310 | OMIM:168000 | OMIM:601650 | OMIM:605373 | OMIM:614165
MouseDO
NCBI chr 1:226,543,671...226,572,414
Ensembl chr 1:226,547,531...226,572,349
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Sdhb
succinate dehydrogenase complex iron sulfur subunit B
ISO
PGL4,OMIM:115310;DNA:point mutation:exon:R90X, P197R ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:12364472 PMID:12618761 PMID:14500403 PMID:15328326 PMID:16314641 PMID:16317055 PMID:17102082 PMID:17200167 PMID:18362451 PMID:18840642 PMID:19454582 PMID:19802898 PMID:19927285 PMID:22835832 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23512077 PMID:24033266 PMID:24102379 PMID:24659481 PMID:25298897 PMID:25741868 PMID:25972245 PMID:26642834 PMID:26719882 PMID:28374168 PMID:28492532 PMID:28503760 PMID:28973655 PMID:29386252 PMID:29951630 PMID:30013182 PMID:30352407 , PMID:11404820
RGD:1624151
NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064
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Sdhc
succinate dehydrogenase complex subunit C
ISO ISS
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas OMIM:115310 | OMIM:168000 | OMIM:601650 | OMIM:605373 | OMIM:614165
ClinVar MouseDO
PMID:12807974 PMID:17468193 PMID:23342407 , PMID:11062460
RGD:1599507
NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
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Sdhd
succinate dehydrogenase complex subunit D
ISO
DNA:missense mutations, nonsense mutations:cds:multiple (human) ClinVar Annotator: match by term: Paragangliomata CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:10657297 PMID:11156372 PMID:11526495 PMID:12007193 PMID:12111639 PMID:12386824 PMID:12696072 PMID:14557476 PMID:15032977 PMID:15623805 PMID:18678321 PMID:21318381 PMID:21565294 PMID:21979946 PMID:22584711 PMID:22703879 PMID:23175444 PMID:23666964 PMID:24033266 PMID:24728327 PMID:24886695 PMID:25149476 PMID:25694510 PMID:25695889 PMID:25741868 PMID:26467025 PMID:27153395 PMID:27279923 PMID:28128698 PMID:28164237 PMID:28492532 PMID:29386252 , PMID:10657297
RGD:1302858
NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
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Sstr2
somatostatin receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29163802
NCBI chr10:102,136,283...102,143,449
Ensembl chr10:102,136,283...102,143,434
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Sdhd
succinate dehydrogenase complex subunit D
ISO
ClinVar Annotator: match by term: Paragangliomas familial 1 ClinVar Annotator: match by term: Paragangliomas 1
OMIM ClinVar
PMID:9683583 PMID:10657297 PMID:10846047 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11391798 PMID:11526495 PMID:11605159 PMID:11897817 PMID:12000816 PMID:12007193 PMID:12111639 PMID:12386824 PMID:12612654 PMID:12696072 PMID:12782822 PMID:12811540 PMID:14557476 PMID:15032977 PMID:15066320 PMID:15328326 PMID:15479192 PMID:15531530 PMID:15623805 PMID:16080474 PMID:16314641 PMID:16317055 PMID:17102085 PMID:17406045 PMID:17563904 PMID:17576205 PMID:17848412 PMID:17973943 PMID:18211978 PMID:18414213 PMID:18561749 PMID:18678321 PMID:18692411 PMID:19258401 PMID:19351833 PMID:19454582 PMID:19584903 PMID:19825962 PMID:20098451 PMID:20208144 PMID:21348866 PMID:21565294 PMID:21792967 PMID:21937622 PMID:21945342 PMID:21979946 PMID:22025150 PMID:22241717 PMID:22290790 PMID:22456618 PMID:22517554 PMID:22584711 PMID:22703879 PMID:22829200 PMID:23175444 PMID:23433498 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24436918 PMID:24728327 PMID:24758185 PMID:24886695 PMID:25014000 PMID:25149476 PMID:25275255 PMID:25300370 PMID:25326637 PMID:25494863 PMID:25694510 PMID:25695889 PMID:25741868 PMID:26008905 PMID:26096992 PMID:26269449 PMID:26467025 PMID:27153395 PMID:27279923 PMID:27539324 PMID:28128698 PMID:28164237 PMID:28492532 PMID:29386252
NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
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Sdhaf2
succinate dehydrogenase complex assembly factor 2
ISO
ClinVar Annotator: match by term: Paragangliomas 2
OMIM ClinVar
PMID:6264239 PMID:6286462 PMID:19628817 PMID:20071235 PMID:21224366 PMID:21348866 PMID:22241717 PMID:24414418 PMID:25741868 PMID:28099933 PMID:28492532
NCBI chr 1:226,543,671...226,572,414
Ensembl chr 1:226,547,531...226,572,349
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Mpz
myelin protein zero
ISO
ClinVar Annotator: match by term: Glomus tumors, familial, 3
ClinVar
PMID:12807974 PMID:17468193 PMID:23342407
NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
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Sdhb
succinate dehydrogenase complex iron sulfur subunit B
ISO
ClinVar Annotator: match by term: Paraganglioma, familial malignant
ClinVar
PMID:12364472 PMID:12618761 PMID:14500403 PMID:15328326 PMID:16314641 PMID:16317055 PMID:17102082 PMID:17200167 PMID:18362451 PMID:18840642 PMID:19454582 PMID:19802898 PMID:22835832 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23512077 PMID:24033266 PMID:24102379 PMID:24659481 PMID:25298897 PMID:25741868 PMID:25972245 PMID:26642834 PMID:26719882 PMID:28374168 PMID:28492532 PMID:28503760 PMID:28973655 PMID:29386252 PMID:29951630 PMID:30352407
NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064
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Sdhc
succinate dehydrogenase complex subunit C
ISO
ClinVar Annotator: match by term: Paragangliomas 3 ClinVar Annotator: match by term: Glomus tumors, familial, 3
OMIM ClinVar
PMID:11062460 PMID:12658451 PMID:12807974 PMID:15342702 PMID:16249420 PMID:17468193 PMID:17667967 PMID:17898811 PMID:19351833 PMID:19454582 PMID:21106325 PMID:21979946 PMID:22136840 PMID:22351710 PMID:22517554 PMID:22703879 PMID:22868853 PMID:23083876 PMID:23282968 PMID:23342407 PMID:24033266 PMID:24402737 PMID:24423348 PMID:24523625 PMID:24728327 PMID:24758179 PMID:24781345 PMID:25024072 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26492543 PMID:27279923 PMID:27700540 PMID:28412079 PMID:28492532 PMID:28819017
NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
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Padi2
peptidyl arginine deiminase 2
ISO
ClinVar Annotator: match by term: Paragangliomas 4
ClinVar
PMID:18057081
NCBI chr 5:159,428,479...159,471,113
Ensembl chr 5:159,428,515...159,471,144
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Sdhb
succinate dehydrogenase complex iron sulfur subunit B
ISO
ClinVar Annotator: match by term: Paragangliomas 4 ClinVar Annotator: match by term: CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS ClinVar Annotator: match by OMIM:115310
OMIM ClinVar
PMID:490809 PMID:9509062 PMID:11404820 PMID:12000816 PMID:12205103 PMID:12213855 PMID:12351569 PMID:12362046 PMID:12364472 PMID:12560550 PMID:12618761 PMID:13129931 PMID:14500403 PMID:14643060 PMID:14685938 PMID:14715873 PMID:14974914 PMID:14985401 PMID:15235042 PMID:15328326 PMID:15476441 PMID:15531530 PMID:15883710 PMID:15987702 PMID:15989954 PMID:16001332 PMID:16103922 PMID:16258955 PMID:16288654 PMID:16304664 PMID:16314641 PMID:16317055 PMID:16322339 PMID:16405730 PMID:16912137 PMID:16916404 PMID:16982587 PMID:17102082 PMID:17102083 PMID:17102084 PMID:17200167 PMID:17298551 PMID:17487275 PMID:17538171 PMID:17639058 PMID:17652212 PMID:17667967 PMID:17884808 PMID:17943698 PMID:18057081 PMID:18362451 PMID:18382370 PMID:18419787 PMID:18519664 PMID:18551016 PMID:18678321 PMID:18728283 PMID:18753105 PMID:18840642 PMID:19001511 PMID:19064958 PMID:19075037 PMID:19184535 PMID:19189136 PMID:19215943 PMID:19258401 PMID:19351833 PMID:19368708 PMID:19389109 PMID:19393419 PMID:19399650 PMID:19411806 PMID:19415531 PMID:19454582 PMID:19522823 PMID:19576851 PMID:19694205 PMID:19802898 PMID:19825962 PMID:19927285 PMID:20208144 PMID:20213850 PMID:20418362 PMID:20503330 PMID:20505258 PMID:20540712 PMID:20583550 PMID:20592014 PMID:20614293 PMID:20702724 PMID:21172883 PMID:21173220 PMID:21348866 PMID:21565294 PMID:21820839 PMID:21909610 PMID:21934479 PMID:21979946 PMID:22041710 PMID:22241717 PMID:22270996 PMID:22429592 PMID:22517554 PMID:22517557 PMID:22703879 PMID:22835832 PMID:22995991 PMID:23072324 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23407919 PMID:23512077 PMID:23660872 PMID:23666964 PMID:23735539 PMID:23780556 PMID:23797725 PMID:23902947 PMID:23934599 PMID:24033266 PMID:24055113 PMID:24092654 PMID:24096523 PMID:24102379 PMID:24276837 PMID:24466223 PMID:24509376 PMID:24659481 PMID:24728327 PMID:24781345 PMID:24939699 PMID:25025441 PMID:25047027 PMID:25130709 PMID:25215250 PMID:25298897 PMID:25326637 PMID:25333069 PMID:25371406 PMID:25637381 PMID:25683602 PMID:25694510 PMID:25695889 PMID:25736212 PMID:25741868 PMID:25827221 PMID:25873086 PMID:25972245 PMID:26092435 PMID:26173966 PMID:26198225 PMID:26236513 PMID:26259135 PMID:26269449 PMID:26273102 PMID:26283294 PMID:26302408 PMID:26332594 PMID:26467025 PMID:26556299 PMID:26642834 PMID:26719882 PMID:26916530 PMID:26960314 PMID:27171833 PMID:27539324 PMID:27542510 PMID:27549546 PMID:27573198 PMID:27604842 PMID:28070496 PMID:28152038 PMID:28284009 PMID:28324028 PMID:28349240 PMID:28374168 PMID:28490599 PMID:28492532 PMID:28503760 PMID:28738844 PMID:28784873 PMID:28891197 PMID:28944243 PMID:28973655 PMID:29386252 PMID:29623478 PMID:29951630 PMID:30050099 PMID:30122763 PMID:30201732 PMID:30352407 PMID:31492822 PMID:31666924 PMID:163114641
NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064
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Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: Paragangliomas 5
OMIM ClinVar
PMID:10746566 PMID:11423010 PMID:15989954 PMID:17376234 PMID:19628817 PMID:20484225 PMID:21505157 PMID:21752896 PMID:21858060 PMID:22904323 PMID:22955521 PMID:23043141 PMID:23109135 PMID:23154507 PMID:23174939 PMID:23252569 PMID:23282968 PMID:23612575 PMID:23666964 PMID:23730622 PMID:23750034 PMID:24448499 PMID:24694336 PMID:24781757 PMID:25405498 PMID:25488574 PMID:25494863 PMID:25720320 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26334176 PMID:26490314 PMID:26722403 PMID:27011036 PMID:27390349 PMID:27493882 PMID:27847310 PMID:27895137 PMID:27986441 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28546994 PMID:28750076 PMID:28819017 PMID:29177515 PMID:29872718 PMID:30050099 PMID:30068732 PMID:30877234
NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
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Zmynd11
zinc finger, MYND-type containing 11
ISO
ClinVar Annotator: match by term: Paragangliomas 5
ClinVar
NCBI chr17:63,825,616...63,914,740
Ensembl chr17:63,825,627...63,879,171
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Slc25a11
solute carrier family 25 member 11
ISO
ClinVar Annotator: match by term: PARAGANGLIOMAS 6
OMIM ClinVar
PMID:29431636
NCBI chr10:57,265,903...57,268,018
Ensembl chr10:57,265,704...57,268,081
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Dlst
dihydrolipoamide S-succinyltransferase
ISO
ClinVar Annotator: match by term: PARAGANGLIOMAS 7
OMIM ClinVar
PMID:30929736
NCBI chr 6:108,936,534...108,961,322
Ensembl chr 6:108,936,664...108,959,803
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Sdhd
succinate dehydrogenase complex subunit D
ISO
ClinVar Annotator: match by term: Paragangliomas 1 with sensorineural hearing loss
ClinVar
PMID:10657297 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11897817 PMID:12811540 PMID:15479192 PMID:17102085 PMID:19454582 PMID:21348866 PMID:21937622 PMID:22290790 PMID:23175444 PMID:23433498 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24436918 PMID:24758185 PMID:25014000 PMID:25326637 PMID:25494863 PMID:25695889 PMID:25741868 PMID:28492532
NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
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Casr
calcium-sensing receptor
ISO
ClinVar Annotator: match by term: Parathyroid adenoma
ClinVar
PMID:8675635 PMID:8878438 PMID:17284438 PMID:19389809 PMID:19779033 PMID:22798347 PMID:23372019 PMID:25741868 PMID:26467025
NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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Cdc73
cell division cycle 73
ISO
ClinVar Annotator: match by term: Parathyroid adenoma, somatic
ClinVar
PMID:12434154 PMID:15531515 PMID:16061557 PMID:28492532
NCBI chr13:60,403,771...60,496,511
Ensembl chr13:60,403,771...60,496,511
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Men1
menin 1
ISO
ClinVar Annotator: match by term: Parathyroid adenoma, somatic
ClinVar
PMID:9241276 PMID:9820618 PMID:12016472 PMID:20231234 PMID:28492532
NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
IAGP
RGD
PMID:12036912
RGD:619590
NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
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Cdkn1bwe
cyclin-dependent kinase inhibitor 1B; white eye mutation
IAGP
RGD
PMID:12036912
RGD:619590
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Cfap126
cilia and flagella associated protein 126
ISO
ClinVar Annotator: match by term: Pheochromocytoma
ClinVar
NCBI chr13:89,480,058...89,495,949
Ensembl chr13:89,480,058...89,495,949
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Chga
chromogranin A
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11116123 , PMID:2189303
RGD:6906907
NCBI chr 6:126,434,226...126,445,569
Ensembl chr 6:126,434,226...126,445,568
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Comt
catechol-O-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22569243
NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
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Dbh
dopamine beta-hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22569243
NCBI chr 3:5,709,236...5,731,895
Ensembl chr 3:5,709,236...5,731,898
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Ddc
dopa decarboxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22569243
NCBI chr14:91,905,919...91,996,816
Ensembl chr14:91,905,919...91,996,774
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Dmbt1
deleted in malignant brain tumors 1
IEP
mRNA:decreased expression
RGD
PMID:17102098
RGD:1599780
NCBI chr 1:201,620,642...201,689,905 NCBI chr 1:203,149,414...203,228,705
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Gdnf
glial cell derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
PMID:9215674
NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
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Hsd17b10
hydroxysteroid (17-beta) dehydrogenase 10
ISO
RGD
PMID:25879199
RGD:13792787
NCBI chr X:21,696,796...21,699,241
Ensembl chr X:21,696,772...21,699,241
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Kif1b
kinesin family member 1B
ISO
ClinVar Annotator: match by term: Pheochromocytoma ClinVar Annotator: match by OMIM:171300
OMIM ClinVar
PMID:18334619 PMID:18726616 PMID:25741868 PMID:28492532
NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
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L1cam
L1 cell adhesion molecule
ISO
mRNA,protein:increased expression:adrenal medulla:
RGD
PMID:20937862
RGD:11570409
NCBI chr X:156,901,244...156,928,064
Ensembl chr X:156,909,913...156,928,057
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Maoa
monoamine oxidase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22569243
NCBI chr X:6,554,698...6,620,722
Ensembl chr X:6,554,698...6,620,722
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Maob
monoamine oxidase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22569243
NCBI chr X:6,430,694...6,533,520
Ensembl chr X:6,430,594...6,533,534
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Max
MYC associated factor X
ISO
ClinVar Annotator: match by term: Pheochromocytoma ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to ClinVar Annotator: match by OMIM:171300 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by synonym: Pheochromocytoma, susceptibility to
OMIM ClinVar CTD
PMID:21685915 PMID:22452945 PMID:23551045 PMID:25741868 PMID:26070438 PMID:27838885 PMID:28152038 PMID:28492532
NCBI chr 6:99,984,260...100,011,460
Ensembl chr 6:99,984,260...100,011,388
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Mpz
myelin protein zero
ISO
ClinVar Annotator: match by term: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO ClinVar Annotator: match by term: Pheochromocytoma
ClinVar
PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 PMID:25741868
NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
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Nf1
neurofibromin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11151443
NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
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Ret
ret proto-oncogene
IEP ISO
protein:increased expression:adrenal gland medulla ClinVar Annotator: match by term: Pheochromocytoma ClinVar Annotator: match by term: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO ClinVar Annotator: match by OMIM:171300 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7491519 PMID:7536460 PMID:7581377 PMID:7595170 PMID:7595171 PMID:7608256 PMID:7647787 PMID:7704557 PMID:7824936 PMID:7835899 PMID:7845675 PMID:7849700 PMID:7860065 PMID:7874109 PMID:7881414 PMID:7906417 PMID:7906866 PMID:7907913 PMID:7911697 PMID:7914213 PMID:7915165 PMID:7915166 PMID:7915822 PMID:7977365 PMID:8084609 PMID:8099202 PMID:8103403 PMID:8570194 PMID:8595427 PMID:8640806 PMID:8757765 PMID:8765374 PMID:8782503 PMID:8797874 PMID:8880581 PMID:8909322 PMID:8918855 PMID:9067749 PMID:9090527 PMID:9111993 PMID:9230192 PMID:9242375 PMID:9467562 PMID:9506724 PMID:9620546 PMID:9681850 PMID:9699127 PMID:9727738 PMID:9760196 PMID:9820617 PMID:9839497 PMID:9879991 PMID:9950371 PMID:10022819 PMID:10369718 PMID:10445857 PMID:10522989 PMID:10528857 PMID:10646792 PMID:10679286 PMID:10790203 PMID:10980580 PMID:11230481 PMID:11238493 PMID:11351254 PMID:11389085 PMID:11436122 PMID:11524247 PMID:11589684 PMID:11732489 PMID:11900218 PMID:11939755 PMID:11953745 PMID:11955539 PMID:11987030 PMID:12000816 PMID:12016484 PMID:12086152 PMID:12150334 PMID:12205548 PMID:12214285 PMID:12466368 PMID:12566528 PMID:12604374 PMID:12686527 PMID:12702567 PMID:12711285 PMID:12746565 PMID:12788868 PMID:12864791 PMID:12872262 PMID:14566559 PMID:14602786 PMID:14627689 PMID:14633923 PMID:15184865 PMID:15277225 PMID:15281979 PMID:15320968 PMID:15452453 PMID:15472167 PMID:15531548 PMID:15531714 PMID:15588376 PMID:15741265 PMID:15753368 PMID:15834508 PMID:15858153 PMID:15870131 PMID:15933516 PMID:16091499 PMID:16099853 PMID:16118333 PMID:16314641 PMID:16388093 PMID:16424056 PMID:16441254 PMID:16525712 PMID:16649977 PMID:16705552 PMID:16707008 PMID:16712668 PMID:16715139 PMID:16778204 PMID:16817830 PMID:16849421 PMID:16865647 PMID:16868135 PMID:16928683 PMID:16986122 PMID:17009072 PMID:17021738 PMID:17065770 PMID:17102080 PMID:17102083 PMID:17102091 PMID:17108110 PMID:17108762 PMID:17178962 PMID:17270543 PMID:17316110 PMID:17344846 PMID:17483988 PMID:17573899 PMID:17605401 PMID:17610518 PMID:17639058 PMID:17848262 PMID:17895320 PMID:17898100 PMID:18058472 PMID:18062802 PMID:18063059 PMID:18073307 PMID:18209889 PMID:18252215 PMID:18284634 PMID:18322301 PMID:18541894 PMID:18772120 PMID:18794325 PMID:18805915 PMID:18976013 PMID:18976163 PMID:19015274 PMID:19041016 PMID:19062722 PMID:19201392 PMID:19240193 PMID:19255327 PMID:19258401 PMID:19269918 PMID:19469690 PMID:19825962 PMID:19826964 PMID:19906784 PMID:20039896 PMID:20065189 PMID:20080836 PMID:20368568 PMID:20473317 PMID:20516206 PMID:20532249 PMID:20739875 PMID:20801952 PMID:20847059 PMID:20943719 PMID:20956458 PMID:20981092 PMID:21253810 PMID:21311890 PMID:21349203 PMID:21422803 PMID:21449769 PMID:21455200 PMID:21470995 PMID:21479187 PMID:21490379 PMID:21551259 PMID:21655256 PMID:21765987 PMID:21810974 PMID:21986619 PMID:21995290 PMID:22025146 PMID:22068382 PMID:22111543 PMID:22174939 PMID:22199277 PMID:22233172 PMID:22359510 PMID:22395866 PMID:22517557 PMID:22574178 PMID:22584710 PMID:22648184 PMID:22676047 PMID:22676344 PMID:22703879 PMID:22729463 PMID:22837065 PMID:22900816 PMID:22992277 PMID:22995991 PMID:23056499 PMID:23059849 PMID:23067224 PMID:23084198 PMID:23404858 PMID:23416954 PMID:23461807 PMID:23527089 PMID:23617071 PMID:23723040 PMID:23861463 PMID:24033266 PMID:24055113 PMID:24331334 PMID:24336963 PMID:24375508 PMID:24429398 PMID:24561444 PMID:24651702 PMID:24684035 PMID:24716929 PMID:24728327 PMID:24755471 PMID:24784869 PMID:24897126 PMID:25027091 PMID:25143909 PMID:25157968 PMID:25256751 PMID:25425582 PMID:25440022 PMID:25515555 PMID:25628771 PMID:25629635 PMID:25637381 PMID:25741868 PMID:25810047 PMID:25950813 PMID:25985138 PMID:26084817 PMID:26206375 PMID:26230854 PMID:26332594 PMID:26356818 PMID:26395553 PMID:26467025 PMID:26489027 PMID:26580448 PMID:26678667 PMID:26732158 PMID:26920351 PMID:27153395 PMID:27379493 PMID:27406704 PMID:27539324 PMID:27600092 PMID:27698838 PMID:27798940 PMID:27807060 PMID:27884173 PMID:28099363 PMID:28469506 PMID:28492532 PMID:28946813 PMID:29026273 PMID:29133048 PMID:29197744 PMID:29263839 PMID:29549836 PMID:29642553 PMID:30306255 PMID:30392857 PMID:30644554 PMID:30927507 PMID:31510104 , PMID:18317952
RGD:2324930
NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
G
Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: Pheochromocytoma
ClinVar
PMID:22974104 PMID:24781757 PMID:25741868 PMID:26556299 PMID:28492532 PMID:29177515
NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
G
Sdhaf2
succinate dehydrogenase complex assembly factor 2
ISO
ClinVar Annotator: match by term: Pheochromocytoma
ClinVar
NCBI chr 1:226,543,671...226,572,414
Ensembl chr 1:226,547,531...226,572,349
G
Sdhb
succinate dehydrogenase complex iron sulfur subunit B
ISO
OMIM:171300;DNA:deletion:725delC ClinVar Annotator: match by term: Pheochromocytoma ClinVar Annotator: match by OMIM:171300
ClinVar OMIM
PMID:9509062 PMID:11404820 PMID:12000816 PMID:12205103 PMID:12213855 PMID:12351569 PMID:12362046 PMID:12364472 PMID:12618761 PMID:14500403 PMID:14643060 PMID:14685938 PMID:14715873 PMID:15235042 PMID:15328326 PMID:15476441 PMID:15883710 PMID:15987702 PMID:16001332 PMID:16314641 PMID:16317055 PMID:17102082 PMID:17102084 PMID:17200167 PMID:17634472 PMID:17652212 PMID:17987308 PMID:18362451 PMID:18382370 PMID:18419787 PMID:18551016 PMID:18728283 PMID:18840642 PMID:19075037 PMID:19184535 PMID:19351833 PMID:19415531 PMID:19454582 PMID:19576851 PMID:19802898 PMID:20208144 PMID:21173220 PMID:21348866 PMID:21909610 PMID:21934479 PMID:21979946 PMID:22270996 PMID:22517554 PMID:22835832 PMID:23072324 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23512077 PMID:23666964 PMID:23902947 PMID:24033266 PMID:24055113 PMID:24092654 PMID:24102379 PMID:24276837 PMID:24466223 PMID:24659481 PMID:25025441 PMID:25047027 PMID:25215250 PMID:25298897 PMID:25326637 PMID:25637381 PMID:25736212 PMID:25741868 PMID:25873086 PMID:25972245 PMID:26332594 PMID:26642834 PMID:26719882 PMID:27171833 PMID:27573198 PMID:28324028 PMID:28374168 PMID:28490599 PMID:28492532 PMID:28503760 PMID:28738844 PMID:28784873 PMID:28973655 PMID:29386252 PMID:29951630 PMID:30201732 PMID:30352407 PMID:31666924 PMID:163114641 , PMID:11404820
RGD:1624151
NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064
G
Sdhc
succinate dehydrogenase complex subunit C
ISO
ClinVar Annotator: match by term: Phaeochromocytoma, UMLS MESH term: Pheochromocytomas ClinVar Annotator: match by term: Pheochromocytoma ClinVar Annotator: match by term: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
ClinVar
PMID:12807974 PMID:17468193 PMID:19454582 PMID:22517554 PMID:22703879 PMID:23342407 PMID:24033266 PMID:24728327 PMID:25637381 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
G
Sdhd
succinate dehydrogenase complex subunit D
ISO
ClinVar Annotator: match by term: Pheochromocytoma ClinVar Annotator: match by term: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO ClinVar Annotator: match by OMIM:171300 ClinVar Annotator: match by term: Phaeochromocytoma, UMLS MESH term: Pheochromocytomas
OMIM ClinVar
PMID:9683583 PMID:10657297 PMID:10846047 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11391798 PMID:11526495 PMID:11605159 PMID:11897817 PMID:12000816 PMID:12007193 PMID:12111639 PMID:12386824 PMID:12696072 PMID:12811540 PMID:14557476 PMID:15032977 PMID:15328326 PMID:15479192 PMID:15623805 PMID:16314641 PMID:16317055 PMID:17102085 PMID:18414213 PMID:18678321 PMID:18826997 PMID:19258401 PMID:19454582 PMID:19584903 PMID:19825962 PMID:21348866 PMID:21565294 PMID:21937622 PMID:21979946 PMID:22241717 PMID:22290790 PMID:22517554 PMID:22584711 PMID:22703879 PMID:23175444 PMID:23433498 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24436918 PMID:24728327 PMID:24758185 PMID:24886695 PMID:25014000 PMID:25149476 PMID:25300370 PMID:25326637 PMID:25494863 PMID:25637381 PMID:25694510 PMID:25695889 PMID:25741868 PMID:25791839 PMID:25819804 PMID:25985138 PMID:26008905 PMID:26269449 PMID:26467025 PMID:27153395 PMID:27279923 PMID:27785149 PMID:28128698 PMID:28164237 PMID:28492532 PMID:29386252
NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
G
Th
tyrosine hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22569243
NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
G
Tmem127
transmembrane protein 127
ISO
ClinVar Annotator: match by term: Pheochromocytoma ClinVar Annotator: match by OMIM:171300 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16266984 PMID:20154675 PMID:20923864 PMID:21156949 PMID:21613359 PMID:22136840 PMID:22419703 PMID:22541004 PMID:23666964 PMID:24033266 PMID:24334765 PMID:25637381 PMID:25741868 PMID:26267327 PMID:26960314 PMID:28492532
NCBI chr 3:119,677,575...119,690,371
Ensembl chr 3:119,677,575...119,690,366
G
Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Pheochromocytoma CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:171300
ClinVar CTD OMIM
PMID:7563486 PMID:7660122 PMID:7728151 PMID:7759077 PMID:7784063 PMID:7987306 PMID:8270255 PMID:8592333 PMID:8707293 PMID:8772572 PMID:8956040 PMID:9156047 PMID:9215674 PMID:9663592 PMID:9829911 PMID:9829912 PMID:10408776 PMID:10900011 PMID:11331612 PMID:11483638 PMID:12000816 PMID:12393546 PMID:12414898 PMID:12844285 PMID:14722919 PMID:14973063 PMID:15300849 PMID:15611064 PMID:15642680 PMID:16452184 PMID:17102069 PMID:17102080 PMID:17102083 PMID:17661816 PMID:17922902 PMID:18567581 PMID:18836774 PMID:19030229 PMID:19228690 PMID:19336503 PMID:19464396 PMID:19574279 PMID:19602254 PMID:19763184 PMID:19808854 PMID:20151405 PMID:20660572 PMID:21204227 PMID:21463266 PMID:22799452 PMID:23512077 PMID:23772956 PMID:24033266 PMID:24555745 PMID:25119015 PMID:25157968 PMID:25563310 PMID:25741868 PMID:26822237 PMID:26845104 PMID:27539324 PMID:28388566 PMID:28492532 PMID:28944243 PMID:29124493 PMID:29616089 PMID:30042107 , PMID:12500216
RGD:1580371
NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
G
Avpr1b
arginine vasopressin receptor 1B
ISO
RGD
PMID:28692683
RGD:14700668
NCBI chr13:48,367,307...48,378,831
Ensembl chr13:48,367,307...48,378,831
G
Cdkn1b
cyclin-dependent kinase inhibitor 1B
IAGP
RGD
PMID:12036912
RGD:619590
NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
G
Cdkn1bwe
cyclin-dependent kinase inhibitor 1B; white eye mutation
IAGP
RGD
PMID:12036912
RGD:619590
G
Grk2
G protein-coupled receptor kinase 2
ISO
mRNA:altered expression:pituitary gland (human)
RGD
PMID:24169548
RGD:13792706
NCBI chr 1:219,536,220...219,544,329
Ensembl chr 1:219,536,220...219,544,328
G
Aip
aryl-hydrocarbon receptor-interacting protein
ISO
ClinVar Annotator: match by term: PITUITARY ADENOMA 1, MULTIPLE TYPES
ClinVar OMIM
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
NCBI chr 1:219,361,859...219,373,924
Ensembl chr 1:219,361,860...219,374,014
G
Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: PITUITARY ADENOMA 3, MULTIPLE TYPES
ClinVar OMIM
PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7737262 PMID:7739708 PMID:8766942 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:17493233 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:26619011
NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483 Ensembl chr 3:172,374,957...172,428,483
G
Cdh23
cadherin-related 23
ISO
ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES
ClinVar OMIM
PMID:11138009 PMID:11857743 PMID:12075507 PMID:15353998 PMID:16679490 PMID:17407589 PMID:18273900 PMID:18429043 PMID:18484607 PMID:19683999 PMID:20513143 PMID:20613545 PMID:21436283 PMID:21569298 PMID:21940737 PMID:23804846 PMID:24033266 PMID:24498627 PMID:24875298 PMID:25404053 PMID:25468891 PMID:25472526 PMID:25741868 PMID:26399936 PMID:26467025 PMID:27068579 PMID:27743452 PMID:28413019 PMID:28492532
NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
G
LOC100361018
rCG22048-like
ISO
ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES
ClinVar
PMID:24033266 PMID:25741868 PMID:28413019 PMID:28492532
NCBI chr20:29,947,427...29,954,869
Ensembl chr20:29,951,637...29,952,023
G
Bmp4
bone morphogenetic protein 4
IEP ISO
protein:increased expression:pituitary gland CTD Direct Evidence: marker/mechanism
CTD
PMID:16809920 , PMID:12552124
RGD:629544
NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
G
Cebpd
CCAAT/enhancer binding protein delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21980073
NCBI chr11:89,008,008...89,009,146
Ensembl chr11:89,008,008...89,009,146
G
Hpgd
15-hydroxyprostaglandin dehydrogenase
ISO
mRNA:decreased expression:pituitary gland
RGD
PMID:22580984
RGD:11667097
NCBI chr16:37,457,134...37,495,758
Ensembl chr16:37,457,135...37,495,758
G
Lrp2
LDL receptor related protein 2
ISO
ClinVar Annotator: match by term: Prolactin-secreting pituitary adenoma
ClinVar
PMID:25741868
NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
G
Men1
menin 1
ISS
OMIM:600634
MouseDO
NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
G
Myc
MYC proto-oncogene, bHLH transcription factor
IEP
mRNA:increased expression:pituitary gland (rat)
RGD
PMID:22635680
RGD:7240531
NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
G
Nog
noggin
ISO
mRNA, protein:decreased expression:pituitary
RGD
PMID:12552124
RGD:629544
NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
G
Npy5r
neuropeptide Y receptor Y5
IEP
protein:increased expression:pars anterior
RGD
PMID:11026575
RGD:1625506
NCBI chr16:24,796,685...24,805,730
Ensembl chr16:24,797,124...24,805,079
G
Prl
prolactin
IEP ISO IAGP
mRNA:increased expression:pituitary gland CTD Direct Evidence: marker/mechanism DNA:mutation
CTD
PMID:718334 PMID:1407345 PMID:3776530 PMID:9617019 , PMID:17260475 , PMID:17260475
RGD:1642576 , RGD:1642576
NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
G
Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
mRNA:increased expression:pituitary gland
RGD
PMID:22580984
RGD:11667097
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
G
Flcn
folliculin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12204536
NCBI chr10:46,153,185...46,172,331
Ensembl chr10:46,153,188...46,172,309
G
Minpp1
multiple inositol-polyphosphate phosphatase 1
ISO
ClinVar Annotator: match by term: Thyroid adenoma
ClinVar
PMID:11297621
NCBI chr 1:251,045,352...251,071,045
Ensembl chr 1:251,045,440...251,071,040
G
Cbx7
chromobox 7
ISO
protein:decreased expression:thyroid Human)
RGD
PMID:25759796
RGD:11352710
NCBI chr 7:121,136,067...121,153,503
Ensembl chr 7:121,136,058...121,153,383
G
Ndufa13
NADH:ubiquinone oxidoreductase subunit A13
ISO
ClinVar Annotator: match by OMIM:607464
OMIM ClinVar
PMID:15841082
NCBI chr16:21,275,311...21,282,246
Ensembl chr16:21,275,311...21,282,246
G
Psmb9
proteasome 20S subunit beta 9
ISO
RGD
PMID:19924240
RGD:6483332
NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
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