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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:Li-Fraumeni syndrome
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Accession:DOID:3012 term browser browse the term
Definition:A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata. (DO)
Synonyms:exact_synonym: Li-Fraumeni familiar cancer susceptibility syndrome;   SBLA syndrome;   sarcoma family syndrome of Li and Fraumeni;   sarcoma, breast, leukaemia and adrenal gland syndrome;   sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome
 primary_id: MESH:D016864
 xref: GARD:6902;   NCI:C3476;   OMIM:PS151623;   ORDO:524
For additional species annotation, visit the Alliance of Genome Resources.


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Li-Fraumeni syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938 		JBrowse link
G Alox15b arachidonate 15-lipoxygenase, type B ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:53,892,496...53,901,812
Ensembl chr10:53,892,466...53,901,812 		JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328 		JBrowse link
G Arhgef15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:53,650,521...53,662,914
Ensembl chr10:53,650,553...53,663,913 		JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837 		JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632 		JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047 		JBrowse link
G Chek2 checkpoint kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni		 CTD
ClinVar		 PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 PMID:11479205 More... NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:54,022,523...54,047,793
Ensembl chr10:54,022,852...54,044,849 		JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298 		JBrowse link
G Cyb5d1 cytochrome b5 domain containing 1 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:54,113,428...54,117,744
Ensembl chr10:54,113,438...54,117,911 		JBrowse link
G Dnah2 dynein, axonemal, heavy chain 2 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298 		JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:54,274,506...54,281,951
Ensembl chr10:54,274,506...54,280,471 		JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:53,824,124...53,828,350
Ensembl chr10:53,825,574...53,828,097 		JBrowse link
G Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:54,047,830...54,056,401
Ensembl chr10:54,047,825...54,054,174 		JBrowse link
G Kdm6b lysine demethylase 6B ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794 		JBrowse link
G Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:54,117,754...54,118,913
Ensembl chr10:54,117,163...54,119,494 		JBrowse link
G Odf4 outer dense fiber of sperm tails 4 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:53,628,592...53,634,525
Ensembl chr10:53,628,759...53,634,359 		JBrowse link
G Per1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420 		JBrowse link
G Rangrf RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:53,677,467...53,678,880
Ensembl chr10:53,677,467...53,678,840 		JBrowse link
G Rnf227 ring finger protein 227 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:54,061,054...54,061,726
Ensembl chr10:54,059,947...54,063,010 		JBrowse link
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:53,610,836...53,613,966
Ensembl chr10:53,610,421...53,613,966 		JBrowse link
G Slc25a35 solute carrier family 25, member 35 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:53,672,851...53,677,501
Ensembl chr10:53,673,340...53,698,160 		JBrowse link
G Snord118 small nucleolar RNA, C/D box 118 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676 		JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:54,118,752...54,120,447
Ensembl chr10:54,118,752...54,120,447 		JBrowse link
G Tp53 tumor protein p53 ISO DNA:missense mutations
ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1349102 PMID:1349175 PMID:1359493 PMID:1394133 PMID:1467311 More... RGD:2290542 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Trappc1 trafficking protein particle complex subunit 1 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:54,045,598...54,047,184
Ensembl chr10:54,045,537...54,047,331 		JBrowse link
G Vamp2 vesicle-associated membrane protein 2 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:20522432 PMID:21056402 PMID:23172776 PMID:26681312 PMID:28492532 NCBI chr10:53,793,581...53,797,815
Ensembl chr10:53,793,923...53,797,809 		JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome ClinVar PMID:9242456 PMID:9536098 PMID:17576681 PMID:17683073 PMID:18511570 More... NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929 		JBrowse link
Li-Fraumeni syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 OMIM
ClinVar		 PMID:1349175 PMID:1394133 PMID:1467311 PMID:1537617 PMID:1559227 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 ClinVar NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929 		JBrowse link
Li-Fraumeni syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Breast and colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Li-Fraumeni syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 More... NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
Li-Fraumeni-Like Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Li-fraumeni-like syndrome ClinVar PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1679237 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      Hereditary Neoplastic Syndromes 1065
        Li-Fraumeni syndrome 32
          Li-Fraumeni syndrome 1 3
          Li-Fraumeni syndrome 2 1
          Li-Fraumeni-Like Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18256
    Developmental Disease 13110
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11866
        genetic disease 11373
          monogenic disease 8946
            autosomal genetic disease 7992
              autosomal dominant disease 5476
                Li-Fraumeni syndrome 32
                  Li-Fraumeni syndrome 1 3
                  Li-Fraumeni syndrome 2 1
                  Li-Fraumeni-Like Syndrome 1
paths to the root