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: Lymphatic Vessel Tumors
Accession: DOID:9003008
browse the term
Definition: Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels.
Synonyms: exact_synonym: Lymphatic Vessel Tumor
narrow_synonym: malignant lymphatic vessel tumor
primary_id: MESH:D018190
xref: EFO:1001032
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Axin2
axin 2
ISO
protein:increased expression::
RGD
PMID:11809809
RGD:151356508
NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
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Cacna1d
calcium voltage-gated channel subunit alpha1 D
ISO
protein:increased expression:colon (human)
RGD
PMID:29079724
RGD:152177516
NCBI chr16:5,227,157...5,521,163
Ensembl chr16:5,228,306...5,668,215
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Ccnd1
cyclin D1
severity
ISO
RGD
PMID:11375949
RGD:151665121
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Ccnd2
cyclin D2
severity
ISO
RGD
PMID:11375949
RGD:151665121
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Chka
choline kinase alpha
ISO
protein:increased expression:colonic mucosa (human)
RGD
PMID:10363580
RGD:10401945
NCBI chr 1:201,076,804...201,125,517
Ensembl chr 1:201,076,860...201,125,516
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Igf2bp1
insulin-like growth factor 2 mRNA binding protein 1
ISO
RGD
PMID:26194191
RGD:11086893
NCBI chr10:80,908,300...80,951,097
Ensembl chr10:80,908,076...80,951,129
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Rac1
Rac family small GTPase 1
ISO
RGD
PMID:12865273
RGD:13432048
NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251
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Rbp4
retinol binding protein 4
ISO
protein:increased expression:blood serum (human)
RGD
PMID:25712946
RGD:329849123
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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Tet2
tet methylcytosine dioxygenase 2
ISO
mRNA:decreased expression:colon (human)
RGD
PMID:29875879
RGD:150429665
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Col11a2
collagen type XI alpha 2 chain
ISO
ClinVar Annotator: match by term: Cystic hygroma
ClinVar
PMID:10677296 PMID:21204229 PMID:22246659 PMID:24033266 PMID:25741868 PMID:26445815 PMID:28492532 PMID:29456477 PMID:31299979 PMID:31680349 PMID:33111345 More...
NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
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Acss2
acyl-CoA synthetase short-chain family member 2
ISO
protein:increased expression:lung (human)
RGD
PMID:29885404
RGD:152995523
NCBI chr 3:144,003,808...144,047,452
Ensembl chr 3:144,004,336...144,059,675
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Cpt1a
carnitine palmitoyltransferase 1A
ISO
protein:increased expression:lung (human)
RGD
PMID:29885404
RGD:152995523
NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
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Esr1
estrogen receptor 1
ISO
RGD
PMID:18285421
RGD:4892300
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
protein:increased expression:lung (human)
RGD
PMID:29885404
RGD:152995523
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
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Gls
glutaminase
ISO
protein:increased expression:lung (human)
RGD
PMID:29885404
RGD:152995523
NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900
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Hes1
hes family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20038814
NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
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Jag2
jagged canonical Notch ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20038814
NCBI chr 6:131,983,059...132,005,665
Ensembl chr 6:131,983,056...132,005,818
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Mmp3
matrix metallopeptidase 3
treatment
ISO
RGD
PMID:23035046
RGD:8693678
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:serum, plasma
RGD
PMID:18760908
RGD:5129697
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nos3
nitric oxide synthase 3
ISO
protein:increased expression:lung
RGD
PMID:11306434
RGD:4892080
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Nthl1
nth-like DNA glycosylase 1
ISO
ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:13,655,791...13,661,958
Ensembl chr10:13,655,785...13,661,957
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Pkd1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Lymphangiomyomatosis
ClinVar
PMID:25741868
NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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Pkm
pyruvate kinase M1/2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32078667
NCBI chr 8:60,057,629...60,079,600
Ensembl chr 8:60,057,402...60,079,599
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Rictor
RPTOR independent companion of MTOR, complex 2
ISO
protein:increased expression:lung (human)
RGD
PMID:29885404
RGD:152995523
NCBI chr 2:55,811,877...55,903,893
Ensembl chr 2:55,811,322...55,901,426
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Slc16a1
solute carrier family 16 member 1
ISO
protein:increased expression:lung (human)
RGD
PMID:29885404
RGD:152995523
NCBI chr 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611
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Srf
serum response factor
ISO
RGD
PMID:12654640
RGD:1580753
NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733
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Stat1
signal transducer and activator of transcription 1
ISO
protein:increased serine phosphorylation:lung
RGD
PMID:15994429
RGD:2298537
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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Stat3
signal transducer and activator of transcription 3
ISO
protein:increased tyrosine phosphorylation:lung
RGD
PMID:15994429
RGD:2298537
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Tsc1
TSC complex subunit 1
ISO
ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic | ClinVar Annotator: match by term: Lymphangiomyomatosis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:5279523 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 PMID:9924605 PMID:10090883 PMID:10227394 PMID:10353610 PMID:10363127 PMID:10533066 PMID:10533067 PMID:10533069 PMID:10570911 PMID:10607950 PMID:10874311 PMID:11112665 PMID:11208653 PMID:11329144 PMID:11829138 PMID:12015165 PMID:12111193 PMID:12773163 PMID:12853839 PMID:14633685 PMID:14756965 PMID:15798777 PMID:16114042 PMID:16981987 PMID:17304050 PMID:17576681 PMID:18032745 PMID:18772611 PMID:18830229 PMID:19419980 PMID:19747374 PMID:20399389 PMID:20547222 PMID:21309039 PMID:21510812 PMID:21520333 PMID:21624971 PMID:21811971 PMID:22161988 PMID:22490766 PMID:22558107 PMID:22703879 PMID:22707517 PMID:22903760 PMID:22923433 PMID:23254740 PMID:23401075 PMID:23514105 PMID:24033266 PMID:24633152 PMID:24728327 PMID:25525159 PMID:25722345 PMID:25741868 PMID:25900779 PMID:26231267 PMID:26467025 PMID:26540169 PMID:26580448 PMID:27061015 PMID:27425891 PMID:27494029 PMID:28087349 PMID:28492532 PMID:28590052 PMID:28614114 PMID:28754097 PMID:28968464 PMID:29221145 PMID:29286531 PMID:29500070 PMID:29641532 PMID:29655203 PMID:29684080 PMID:29932062 PMID:29960980 PMID:30842500 PMID:31019026 PMID:31564432 PMID:32078667 PMID:32211034 PMID:32313033 PMID:32939031 PMID:33071758 PMID:34573383 PMID:36232477 More...
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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Tsc2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic | ClinVar Annotator: match by term: Lymphangiomyomatosis CTD Direct Evidence: marker/mechanism DNA:loss of heterozygosity
ClinVar CTD OMIM RGD
PMID:5279523 PMID:8824881 PMID:9076719 PMID:9285776 PMID:9302281 PMID:9412784 PMID:9463313 PMID:9536098 PMID:9829910 PMID:10090883 PMID:10205261 PMID:10215407 PMID:10533066 PMID:10533067 PMID:10570911 PMID:10577937 PMID:10607950 PMID:10633137 PMID:10732801 PMID:10735580 PMID:10823953 PMID:10905251 PMID:10942116 PMID:11068191 PMID:11112665 PMID:11208653 PMID:11290735 PMID:11520734 PMID:11521203 PMID:11603814 PMID:11741832 PMID:11741833 PMID:11829138 PMID:12015165 PMID:12062115 PMID:12086608 PMID:12111193 PMID:12136241 PMID:12235314 PMID:12752578 PMID:14641237 PMID:14756965 PMID:14993219 PMID:15024740 PMID:15072102 PMID:15483652 PMID:15595939 PMID:15798777 PMID:15874888 PMID:15963462 PMID:16032769 PMID:16114042 PMID:16129702 PMID:16199547 PMID:16464865 PMID:16554133 PMID:16981987 PMID:17034546 PMID:17120248 PMID:17304050 PMID:17536269 PMID:17576681 PMID:18032745 PMID:18302728 PMID:18308511 PMID:18792920 PMID:18854862 PMID:19254590 PMID:19259131 PMID:19369101 PMID:19747374 PMID:19823873 PMID:20108343 PMID:20165957 PMID:20301399 PMID:20399389 PMID:20498439 PMID:20633017 PMID:21252315 PMID:21309039 PMID:21332470 PMID:21407264 PMID:21510812 PMID:21520333 PMID:21624971 PMID:21811971 PMID:21910228 PMID:22343534 PMID:22552000 PMID:22558107 PMID:22703879 PMID:22805177 PMID:22867869 PMID:22903760 PMID:23006675 PMID:23217510 PMID:23254740 PMID:23389244 PMID:23504366 PMID:23514105 PMID:23955302 PMID:24033266 PMID:24055113 PMID:24271014 PMID:24412076 PMID:24728327 PMID:25039834 PMID:25088526 PMID:25203624 PMID:25231023 PMID:25281918 PMID:25338684 PMID:25432535 PMID:25525159 PMID:25599672 PMID:25637381 PMID:25724664 PMID:25741868 PMID:25782670 PMID:25862857 PMID:25927202 PMID:26332594 PMID:26467025 PMID:26540169 PMID:26580448 PMID:26703369 PMID:27153395 PMID:27174333 PMID:27406250 PMID:27493206 PMID:27600092 PMID:27757534 PMID:27859028 PMID:27884173 PMID:28065512 PMID:28087349 PMID:28127866 PMID:28149746 PMID:28178598 PMID:28250423 PMID:28397210 PMID:28492532 PMID:28518168 PMID:28968464 PMID:29196670 PMID:29271092 PMID:29286531 PMID:29308833 PMID:29344138 PMID:29432982 PMID:29458892 PMID:29476190 PMID:29500070 PMID:29641532 PMID:29655203 PMID:29659200 PMID:29684080 PMID:29801666 PMID:29933521 PMID:30255984 PMID:30583724 PMID:30712878 PMID:30787465 PMID:30986793 PMID:31005478 PMID:31018109 PMID:31291687 PMID:31370276 PMID:31525612 PMID:31586081 PMID:31591157 PMID:31785789 PMID:31875159 PMID:32005694 PMID:32078667 PMID:32211034 PMID:32313033 PMID:32410215 PMID:32461654 PMID:32461669 PMID:32555378 PMID:32860008 PMID:32917966 PMID:34070849 PMID:34252879 PMID:34403804 PMID:34754157 PMID:34849272 PMID:35441217 PMID:35712104 PMID:35918040 PMID:36117189 PMID:36229297 PMID:36232477 PMID:37228977 PMID:10823953 PMID:20639436 More...
RGD:1580521 , RGD:11568662
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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Vegfd
vascular endothelial growth factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20038814
NCBI chr X:30,073,122...30,108,413
Ensembl chr X:30,074,163...30,108,295
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Lymphangioma
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21639808 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25079330 PMID:25157968 PMID:25370471 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:28854169 PMID:29925953 PMID:31891627 PMID:34476331 More...
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Flt4
Fms related receptor tyrosine kinase 4
ISO
protein:increased expression:;lymphatic endothelial cell:
RGD
PMID:17584927
RGD:8552338
NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770
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Kdr
kinase insert domain receptor
ISO
protein:increased expression:;lymphatic endothelial cell:
RGD
PMID:17584927
RGD:8552338
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Cavernous lymphangioma
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 PMID:16906227 PMID:16930767 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21430269 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22658544 PMID:22729222 PMID:23100325 PMID:23946963 PMID:25157968 PMID:25599672 PMID:25681199 PMID:25741868 PMID:26619011 PMID:26627007 PMID:27631024 PMID:29446767 PMID:34496175 PMID:34568242 PMID:34606700 PMID:37667289 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Cftr
CF transmembrane conductance regulator
ISO
ClinVar Annotator: match by term: Fetal cystic hygroma
ClinVar
PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 PMID:12815607 PMID:16199547 PMID:20059485 PMID:23974870 PMID:25741868 PMID:27240813 PMID:28492532 PMID:29879995 PMID:31036917 PMID:31131953 PMID:32357917 More...
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Lztr1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: Fetal cystic hygroma
ClinVar
PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30859559 PMID:31825158 More...
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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Sos1
SOS Ras/Rac guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Nuchal bleb, familial
ClinVar
PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 PMID:23487764 PMID:24033266 PMID:24458522 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30325180 PMID:30784236 PMID:31560489 More...
NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Sigmoid colon cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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Msh2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Sigmoid colon cancer
ClinVar
PMID:10495924 PMID:12658575 PMID:15849733 PMID:17312306 PMID:18566915 PMID:20215533 PMID:23741719 PMID:24323032 PMID:24362816 PMID:25117503 PMID:25648859 PMID:25741868 PMID:26177554 PMID:26659639 PMID:27013479 PMID:27601186 PMID:28492532 PMID:28790115 PMID:31162827 PMID:33977078 PMID:34680242 More...
NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
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Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Sigmoid colon cancer
ClinVar
PMID:9354786 PMID:12376507 PMID:18809606 PMID:19924528 PMID:20176959 PMID:22283331 PMID:24710284 PMID:24728327 PMID:25536104 PMID:25741868 PMID:26046366 PMID:26467025 PMID:28492532 More...
NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
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