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: endometrial hyperplasia
Accession: DOID:0080365
browse the term
Definition: An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium. (DO)
Synonyms: exact_synonym: endometrial hyperplasias
narrow_synonym: Simple Endometrial Hyperplasia with Atypia; simple endometrial hyperplasia; simple endometrial hyperplasias
primary_id: MESH:D004714
xref: EFO:1000098 ; EFO:1000202 ; EFO:1000525 ; EFO:1000526
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Birc5
baculoviral IAP repeat-containing 5
ISO
protein:increased expression:endometrium
RGD
PMID:16803539
RGD:2298940
NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380
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Car9
carbonic anhydrase 9
ISO
protein:altered localization:membrane, endometrium
RGD
PMID:17452774
RGD:2298945
NCBI chr 5:62,559,024...62,565,626
Ensembl chr 5:57,763,206...57,769,838
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Cdc25b
cell division cycle 25B
ISO
protein:increased expression:endometrium
RGD
PMID:14559803
RGD:4105451
NCBI chr 3:138,860,148...138,870,287
Ensembl chr 3:118,407,128...118,417,272
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Cdc25c
cell division cycle 25C
ISO
RGD
PMID:12931023
RGD:4105452
NCBI chr18:26,608,483...26,630,292
Ensembl chr18:26,335,834...26,356,185
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Cdkn1c
cyclin-dependent kinase inhibitor 1C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22064387
NCBI chr 1:208,084,801...208,087,680
Ensembl chr 1:198,655,407...198,658,048
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Celsr2
cadherin, EGF LAG seven-pass G-type receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22248470
NCBI chr 2:198,717,333...198,741,689
Ensembl chr 2:196,029,434...196,053,845
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Csrp1
cysteine and glycine-rich protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22248470
NCBI chr13:49,709,928...49,731,141
Ensembl chr13:47,167,789...47,179,384
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Ddx1
DEAD-box helicase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22248470
NCBI chr 6:41,725,365...41,756,236
Ensembl chr 6:35,996,469...36,027,365
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H19
H19 imprinted maternally expressed transcript
ISO
mRNA:altered localization:endometrium
RGD
PMID:15228427
RGD:2306178
NCBI chr 1:207,160,175...207,162,851
Ensembl chr 1:197,730,698...197,733,134
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Jup
junction plakoglobin
ISO
protein:decreased expression:endometrium
RGD
PMID:12635138
RGD:2301747
NCBI chr10:85,800,812...85,827,881
Ensembl chr10:85,300,440...85,327,057
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Kras
KRAS proto-oncogene, GTPase
ISO
RGD
PMID:19419940
RGD:2314912
NCBI chr 4:179,916,255...179,949,613
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Mmp7
matrix metallopeptidase 7
ISO
protein:increased expression:endometrium
RGD
PMID:17352221
RGD:2298522
NCBI chr 8:13,133,043...13,140,761
Ensembl chr 8:4,848,186...4,855,902
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16402032
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Ptk2
protein tyrosine kinase 2
ISO
protein:increased expression:endometrium
RGD
PMID:15536334
RGD:2292562
NCBI chr 7:107,015,730...107,220,865
Ensembl chr 7:105,126,728...105,331,783
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Skp2
S-phase kinase associated protein 2
ISO
associated with Endometrial Neoplasms;protein:increased expression:endometrium
RGD
PMID:16080017
RGD:2315043
NCBI chr 2:59,888,406...59,916,471
Ensembl chr 2:58,161,229...58,189,338
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Tff1
trefoil factor 1
ISO
protein:increased expression:endometrium
RGD
PMID:9221798
RGD:2298572
NCBI chr20:9,237,095...9,240,956
Ensembl chr20:9,235,736...9,239,597
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Endometrial hyperplasia without atypia
ClinVar
PMID:1875403 PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16474405 PMID:17332249 PMID:17704260 PMID:17910045 PMID:19047918 PMID:19358724 PMID:20805368 PMID:20949522 PMID:21079152 PMID:22499344 PMID:22683711 PMID:23096712 PMID:23174937 PMID:23255105 PMID:24629489 PMID:25623042 PMID:25695684 PMID:25741868 PMID:26242988 PMID:26521233 PMID:26861459 PMID:28492532 PMID:29298116 PMID:30443000 PMID:30544177 PMID:30902772 PMID:31891627 PMID:34114335 PMID:35794233 More...
NCBI chr 4:179,916,255...179,949,613
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
PMID:1316610 PMID:8381579 PMID:9824584 PMID:15311282 PMID:17293347 PMID:22135120 PMID:27081525 PMID:28492532 More...
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
PMID:9425228 PMID:12700603 PMID:15146471 PMID:19799798 PMID:21893440 PMID:22841127 PMID:28492532 More...
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26822237 More...
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
PMID:1875403 PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16474405 PMID:17332249 PMID:17704260 PMID:17910045 PMID:19047918 PMID:19358724 PMID:20805368 PMID:20949522 PMID:21079152 PMID:22499344 PMID:22683711 PMID:23096712 PMID:23174937 PMID:23255105 PMID:24629489 PMID:25623042 PMID:25695684 PMID:25741868 PMID:26242988 PMID:26521233 PMID:26861459 PMID:28492532 PMID:29298116 PMID:30443000 PMID:30544177 PMID:30902772 PMID:31891627 PMID:34114335 PMID:35794233 More...
NCBI chr 4:179,916,255...179,949,613
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
PMID:12826609 PMID:25741868 PMID:28492532 PMID:29979965 PMID:30224644
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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