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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:Multiple Primary Neoplasms
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Accession:DOID:9001030 term browser browse the term
Definition:Two or more abnormal growths of tissue occurring simultaneously and presumed to be of separate origin. The neoplasms may be histologically the same or different, and may be found in the same or different sites.
Synonyms:exact_synonym: Synchronous Multiple Primary Neoplasms;   Synchronous Neoplasm;   multiple primary neoplasm;   synchronous neoplasms
 primary_id: MESH:D009378
 alt_id: RDO:0005711
For additional species annotation, visit the Alliance of Genome Resources.



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Multiple Primary Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3b DNA methyltransferase 3 beta treatment ISO associated with Head and Neck Neoplasms;DNA:SNP: :149C>T(rs2424913)(human) RGD PMID:22009713 RGD:9589077 NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124
JBrowse link
G Mlh1 mutL homolog 1 ISO RGD PMID:8829664 RGD:1625108 NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
JBrowse link
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Klln killin, p53-regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21194675 More...
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
ClinVar
OMIM
PMID:1097835 PMID:2338203 PMID:7728760 PMID:8673088 PMID:8980400 More... NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA ClinVar PMID:27604842 PMID:28492532 NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link
Cowden syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Cowden syndrome
ClinVar Annotator: match by term: Cowden's syndrome
ClinVar Annotator: match by term: Cowden disease
ClinVar PMID:9536098 PMID:15930273 PMID:17376864 PMID:17576681 PMID:18074223 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pten phosphatase and tensin homolog ISO
ISS
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar Annotator: match by term: Cowden disease
ClinVar Annotator: match by term: Lhermitte-Duclos disease
ClinVar
MouseDO
PMID:8071972 PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 More... NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Rint1 RAD50 interactor 1 ISO ClinVar Annotator: match by term: Cowden syndrome ClinVar PMID:28492532 NCBI chr 4:11,319,416...11,355,773
Ensembl chr 4:11,320,955...11,355,736
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Cowden disease
ClinVar Annotator: match by term: Cowden syndrome
ClinVar PMID:11404820 PMID:14985401 PMID:16314641 PMID:16317055 PMID:16322339 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link
Cowden syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klln killin, p53-regulated DNA replication inhibitor ISO OMIM
Cowden syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Cowden syndrome 5 OMIM
ClinVar
PMID:17376864 PMID:21824802 PMID:22228622 PMID:22729224 PMID:23246288 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
Cowden syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Cowden syndrome 6 ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:17611497 PMID:18256540 PMID:18392055 More... NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
Cowden syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec23b Sec23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Cowden syndrome 7 ClinVar
OMIM
PMID:22428539 PMID:25741868 PMID:26522472 PMID:28492532 NCBI chr 3:131,939,011...131,981,489
Ensembl chr 3:131,939,337...131,981,489
JBrowse link
Cowden-Like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Cowden syndrome 2
ClinVar Annotator: match by term: Cowden-like syndrome
ClinVar PMID:15930273 PMID:17376864 PMID:18829572 PMID:19366826 PMID:21824802 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Cowden syndrome 2
ClinVar Annotator: match by term: Cowden-like syndrome
ClinVar PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 PMID:9467011 More... NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Cowden-like syndrome ClinVar PMID:27604842 PMID:28492532 NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link
familial medullary thyroid carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insrr insulin receptor-related receptor ISO ClinVar Annotator: match by term: Familial medullary thyroid carcinoma ClinVar NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Familial medullary thyroid carcinoma
ClinVar Annotator: match by term: Thyroid cancer, familial medullary
ClinVar PMID:10330344 PMID:10443680 PMID:11139246 PMID:11159935 PMID:11719521 More... NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
JBrowse link
G Prlr prolactin receptor ISS OMIM:155240 MouseDO NCBI chr 2:59,134,147...59,324,719
Ensembl chr 2:59,134,588...59,324,718
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Familial medullary thyroid carcinoma
ClinVar Annotator: match by term: Thyroid cancer, familial medullary
ClinVar Annotator: match by term: MEN2A and FMTC
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:2660074 PMID:3078962 PMID:3697657 PMID:7536460 PMID:7595170 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
Macrocephaly Mesodermal Hamartoma Spectrum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Elattoproteus syndrome ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
multiple endocrine neoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1b cyclin-dependent kinase inhibitor 1B susceptibility IAGP
ISO
DNA, protein:frameshift mutation, decreased expression
ClinVar Annotator: match by term: Multiple endocrine neoplasia
ClinVar
RGD
PMID:28492532 PMID:17030811 PMID:17030811 PMID:12036912 RGD:2293616, RGD:2293616, RGD:619590 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation IAGP RGD PMID:17030811 PMID:12036912 RGD:2293616, RGD:619590
G Ghrl ghrelin and obestatin prepropeptide IEP protein:increased expression:pancreas,serum: RGD PMID:26512025 RGD:12904888 NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
JBrowse link
G Ghsr growth hormone secretagogue receptor IEP RGD PMID:26512025 RGD:12904888 NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
JBrowse link
G Gpr19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia ClinVar NCBI chr 4:167,710,944...167,739,232
Ensembl chr 4:167,710,666...167,741,036
JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia
ClinVar Annotator: match by term: Endocrine adenomatosis multiple
ClinVar PMID:9103196 PMID:9215689 PMID:9215690 PMID:9354421 PMID:9407947 More... NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Endocrine adenomatosis multiple
ClinVar Annotator: match by term: Multiple endocrine neoplasia
CTD
ClinVar
PMID:2660074 PMID:3078962 PMID:7536460 PMID:7581377 PMID:7647787 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
multiple endocrine neoplasia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf2 fibroblast growth factor 2 ISO protein:increased expression:plasma RGD PMID:8098714 RGD:2317763 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Men1 menin 1 no_association
disease_progression
ISO
IDA
DNA:mutations:multiple sites:
ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:131100
DNA:mutations, polymorphism:exons
associated with Pituitary Neoplasm; DNA:mutations: :multiple
DNA:deletions:exons
DNA:deletion:exons
DNA, protein:mutations, loss of heterozygosity, decreased expression: :
ClinVar
CTD
OMIM
RGD
PMID:215689 PMID:564891 PMID:2857681 PMID:6108714 PMID:9103196 More... RGD:2317347, RGD:1601327, RGD:1601326, RGD:2317327, RGD:2317303, RGD:2317313, RGD:2317331, RGD:619590, RGD:2317293, RGD:2317314, RGD:2317334, RGD:2317335, RGD:1581203 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1
ClinVar Annotator: match by term: Wermer syndrome
ClinVar PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7491519 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
multiple endocrine neoplasia type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ret ret proto-oncogene ISO DNA:mutation:cds (human)
ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a
ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
ClinVar Annotator: match by term: MEN2 phenotype: Unknown
ClinVar Annotator: match by term: Multiple endocrine neoplasia 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:171400
ClinVar
CTD
OMIM
RGD
PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:3697657 More... RGD:2324920 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
multiple endocrine neoplasia type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2b
ClinVar Annotator: match by term: MEN 2B
ClinVar Annotator: match by OMIM:162300
OMIM
ClinVar
PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7491519 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
multiple endocrine neoplasia type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 4
ClinVar Annotator: match by OMIM:610755
OMIM
ClinVar
PMID:3328816 PMID:9536098 PMID:11986963 PMID:15026335 PMID:15607373 More... NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Gpr19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 4 ClinVar PMID:15026335 PMID:20075119 PMID:20530095 PMID:21454826 PMID:23273568 More... NCBI chr 4:167,710,944...167,739,232
Ensembl chr 4:167,710,666...167,741,036
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 4
ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV
ClinVar PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7491519 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
Proteus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO DNA:missense mutation: :p.E17K (human)
ClinVar Annotator: match by term: Proteus syndrome
ClinVar
OMIM
RGD
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... RGD:5509063 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Proteus-like syndrome
CTD
ClinVar
PMID:9399897 PMID:9467011 PMID:10232405 PMID:10353779 PMID:10400993 More... NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
PTEN hamartoma tumor syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:18456716 PMID:21926107 PMID:22382802 PMID:23132533 PMID:23335809 More... NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
JBrowse link
G Ankrd22 ankyrin repeat domain 22 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:18456716 PMID:21926107 PMID:22382802 PMID:23132533 PMID:23335809 More... NCBI chr 1:231,639,035...231,670,537
Ensembl chr 1:231,639,314...231,670,381
JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:9286463 PMID:9467011 PMID:16287957 PMID:16685657 PMID:18456716 More... NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548
JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:9286463 PMID:9467011 PMID:16287957 PMID:16685657 PMID:18456716 More... NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616
JBrowse link
G Fam25a family with sequence similarity 25, member A ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:9286463 PMID:9467011 PMID:16287957 PMID:16685657 PMID:18456716 More... NCBI chr16:9,680,668...9,684,474
Ensembl chr16:9,680,668...9,684,474
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9002682 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:9286463 PMID:9467011 PMID:16287957 PMID:16685657 PMID:18456716 More... NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
JBrowse link
G Klln killin, p53-regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:2338203 PMID:9286463 PMID:9467011 PMID:11906179 PMID:12844284 More...
G Lipf lipase F, gastric type ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:16287957 PMID:16685657 PMID:18456716 PMID:18510548 PMID:21926107 More... NCBI chr 1:231,493,498...231,511,845
Ensembl chr 1:231,493,498...231,511,845
JBrowse link
G Lipj lipase family member J ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:16287957 PMID:16685657 PMID:18456716 PMID:18510548 PMID:21926107 More... NCBI chr 1:231,363,526...231,376,784
Ensembl chr 1:231,363,646...231,376,784
JBrowse link
G Lipk lipase, family member K ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:16287957 PMID:16685657 PMID:18456716 PMID:18510548 PMID:21926107 More... NCBI chr 1:231,532,893...231,564,567
Ensembl chr 1:231,532,893...231,564,567
JBrowse link
G Lipm lipase, family member M ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:18456716 PMID:21926107 PMID:22382802 PMID:23132533 PMID:23335809 More... NCBI chr 1:231,618,145...231,637,599
Ensembl chr 1:231,618,284...231,637,410
JBrowse link
G Lipn lipase, family member N ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:16287957 PMID:16685657 PMID:18456716 PMID:18510548 PMID:21926107 More... NCBI chr 1:231,586,197...231,602,370
Ensembl chr 1:231,584,956...231,603,468
JBrowse link
G Minpp1 multiple inositol-polyphosphate phosphatase 1 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:9286463 PMID:9467011 PMID:16287957 PMID:16685657 PMID:18456716 More... NCBI chr 1:230,354,483...230,379,730
Ensembl chr 1:230,354,438...230,379,730
JBrowse link
G Mmrn2 multimerin 2 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:9286463 PMID:9467011 PMID:16287957 PMID:16685657 PMID:18456716 More... NCBI chr16:9,705,925...9,727,405
Ensembl chr16:9,705,892...9,727,405
JBrowse link
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:9286463 PMID:9467011 PMID:16287957 PMID:16685657 PMID:18456716 More... NCBI chr 1:230,454,314...230,539,332
Ensembl chr 1:230,454,426...230,539,331
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Multiple hamartoma syndrome
ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome
ClinVar PMID:15930273 PMID:17376864 PMID:18829572 PMID:19366826 PMID:21824802 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pten phosphatase and tensin homolog susceptibility ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:c.950_953delTACT (human)
mRNA:spice variants:lymphocyte (human)
DNA:missense mutation, nonsense mutations:cds:p.G129E, p.E157X, p.R233X (human)
DNA:deletions:multiple (human)
ClinVar
CTD
RGD
PMID:1097835 PMID:2338203 PMID:7728760 PMID:8071972 PMID:8673088 More... RGD:1302552, RGD:12859041, RGD:12859035, RGD:12802361, RGD:12802356 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Rnls renalase, FAD-dependent amine oxidase ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:16287957 PMID:16685657 PMID:18456716 PMID:18510548 PMID:21926107 More... NCBI chr 1:231,037,481...231,309,855
Ensembl chr 1:231,037,486...231,309,823
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Multiple hamartoma syndrome ClinVar PMID:27604842 PMID:28492532 NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:9286463 PMID:9467011 PMID:16287957 PMID:16685657 PMID:18456716 More... NCBI chr16:9,544,940...9,640,323
Ensembl chr16:9,548,660...9,639,965
JBrowse link
G Sncg synuclein, gamma ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:9286463 PMID:9467011 PMID:16287957 PMID:16685657 PMID:18456716 More... NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368
JBrowse link
G Stambpl1 STAM binding protein-like 1 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:18456716 PMID:21926107 PMID:22382802 PMID:23132533 PMID:23335809 More... NCBI chr 1:231,699,620...231,745,034
Ensembl chr 1:231,699,995...231,745,032
JBrowse link
tuberous sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO protein:decreased expression, altered localization:cerebral cortex: RGD PMID:22752548 RGD:9068443 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 treatment IDA RGD PMID:12384518 RGD:1549429 NCBI chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984
JBrowse link
G Flna filamin A ISO protein:increased expression:prefrontal cortex (human) RGD PMID:25277454 RGD:11565117 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:16845661 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebral cortex RGD PMID:22459050 RGD:8547829 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Tuberous sclerosis syndrome ClinVar NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
JBrowse link
G Tsc1 TSC complex subunit 1 susceptibility ISO DNA:nonsense mutations, deletion: :multiple
ClinVar Annotator: match by term: Tuberous sclerosis syndrome
DNA:nonsense mutation:exon:p.R509X (c.1525C>T) (human)
DNA:deletions, duplication, point mutation:exon, intron:multiple
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tuberous sclerosis syndrome, UMLS OMIM term: TUBEROSE SCLEROSIS
ClinVar
RGD
CTD
PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 More... RGD:1624196, RGD:1624196, RGD:11073512, RGD:11570511, RGD:11062248 NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis syndrome, UMLS OMIM term: TUBEROSE SCLEROSIS
ClinVar Annotator: match by term: Cortical tubers
DNA:mutations:exon, intron:multiple
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1112665 PMID:1870099 PMID:2039137 PMID:2139039 PMID:4461062 More... RGD:11062248, RGD:11568672 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
JBrowse link
tuberous sclerosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554
JBrowse link
G Ak8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 NCBI chr 3:12,028,895...12,144,468
Ensembl chr 3:12,028,954...12,144,465
JBrowse link
G Brd3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,773,163...10,829,675
Ensembl chr 3:10,775,272...10,829,577
JBrowse link
G Cacfd1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,335,881...10,352,437
Ensembl chr 3:10,335,881...10,343,406
JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035
JBrowse link
G Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248
JBrowse link
G Fam163b family with sequence similarity 163, member B ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,437,383...10,466,458
Ensembl chr 3:10,437,383...10,466,458
JBrowse link
G Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:11,826,131...11,829,745 JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
JBrowse link
G Gtf3c5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:11,893,867...11,914,187
Ensembl chr 3:11,893,875...11,914,180
JBrowse link
G Med22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,233,754...10,238,836
Ensembl chr 3:10,233,754...10,238,836
JBrowse link
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,388,361...10,397,364
Ensembl chr 3:10,388,361...10,397,343
JBrowse link
G Ralgds ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:11,839,686...11,880,059
Ensembl chr 3:11,839,416...11,880,059
JBrowse link
G Rexo4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,280,654...10,291,003
Ensembl chr 3:10,280,654...10,290,996
JBrowse link
G Rpl7a ribosomal protein L7a ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,239,026...10,241,703
Ensembl chr 3:10,239,001...10,241,716
JBrowse link
G Sardh sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,510,553...10,575,342
Ensembl chr 3:10,510,553...10,573,874
JBrowse link
G Slc2a6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,348,395...10,355,208
Ensembl chr 3:10,348,395...10,355,208
JBrowse link
G Spaca9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 NCBI chr 3:12,019,376...12,028,801
Ensembl chr 3:12,019,363...12,029,119
JBrowse link
G Stkld1 serine/threonine kinase-like domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,261,583...10,280,850
Ensembl chr 3:10,261,828...10,280,566
JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
JBrowse link
G Surf2 surfeit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,244,654...10,248,502
Ensembl chr 3:10,244,654...10,250,077
JBrowse link
G Surf4 surfeit 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,248,360...10,261,537
Ensembl chr 3:10,241,837...10,263,315
JBrowse link
G Surf6 surfeit 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,221,450...10,232,306
Ensembl chr 3:10,221,452...10,232,251
JBrowse link
G Tsc1 TSC complex subunit 1 treatment ISO ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar Annotator: match by term: Tuberous sclerosis syndrome, UMLS OMIM term: TUBEROSE SCLEROSIS
ClinVar Annotator: match by OMIM:191100
OMIM
ClinVar
RGD
PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 More... RGD:11570507 NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
JBrowse link
G Vav2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,584,688...10,754,128
Ensembl chr 3:10,584,688...10,754,052
JBrowse link
G Wdr5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:10,836,964...10,856,682
Ensembl chr 3:10,837,025...10,856,671
JBrowse link
tuberous sclerosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antkmt adenine nucleotide translocase lysine methyltransferase ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,812,274...14,814,798
Ensembl chr10:14,812,269...14,814,193
JBrowse link
G Baiap3 BAI1-associated protein 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,260,269...14,273,019
Ensembl chr10:14,260,269...14,273,019
JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376
JBrowse link
G Ccdc154 coiled-coil domain containing 154 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,177,271...14,187,378
Ensembl chr10:14,177,278...14,187,253
JBrowse link
G Ccdc78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,808,355...14,812,284
Ensembl chr10:14,807,710...14,812,282
JBrowse link
G Chtf18 chromosome transmission fidelity factor 18 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,743,006...14,751,044
Ensembl chr10:14,742,621...14,751,050
JBrowse link
G Ciao3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,795,888...14,804,953
Ensembl chr10:14,795,961...14,804,950
JBrowse link
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130
JBrowse link
G Cramp1 cramped chromatin regulator homolog 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,983,781...14,032,409
Ensembl chr10:13,983,866...14,032,392
JBrowse link
G Eme2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,913,216...13,915,991
Ensembl chr10:13,913,221...13,915,968
JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,873,539...13,874,978
Ensembl chr10:13,873,527...13,875,012
JBrowse link
G Fbxl16 F-box and leucine-rich repeat protein 16 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,829,453...14,841,739
Ensembl chr10:14,829,449...14,840,986
JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
JBrowse link
G Gng13 G protein subunit gamma 13 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,741,179...14,743,083
Ensembl chr10:14,741,239...14,743,083
JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096
JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504
JBrowse link
G Haghl hydroxyacylglutathione hydrolase-like ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,804,957...14,809,495
Ensembl chr10:14,804,997...14,807,665
JBrowse link
G Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,781,999...13,788,133
Ensembl chr10:13,781,993...13,788,133
JBrowse link
G Ifng interferon gamma ISO OMIM NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
JBrowse link
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,848,965...14,851,881
Ensembl chr10:14,848,980...14,851,879
JBrowse link
G Jpt2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,963,135...13,983,212
Ensembl chr10:13,963,137...13,983,170
JBrowse link
G Lmf1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,597,726...14,684,071
Ensembl chr10:14,597,594...14,684,119
JBrowse link
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,918,417...13,958,335
Ensembl chr10:13,918,400...13,958,273
JBrowse link
G Mcrip2 MAPK regulated co-repressor interacting protein 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,883,813...14,888,784
Ensembl chr10:14,883,813...14,894,021
JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,833,170...13,865,684
Ensembl chr10:13,833,750...13,865,046
JBrowse link
G Metrn meteorin, glial cell differentiation regulator ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,816,684...14,818,702
Ensembl chr10:14,816,572...14,818,701
JBrowse link
G Mettl26 methyltransferase like 26 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,894,574...14,908,067
Ensembl chr10:14,894,581...14,905,851
JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,916,024...13,917,155
Ensembl chr10:13,916,026...13,918,406
JBrowse link
G Msln mesothelin ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
JBrowse link
G Msrb1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,764,883...13,770,609
Ensembl chr10:13,764,883...13,770,609
JBrowse link
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,749,273...13,751,434
Ensembl chr10:13,749,275...13,751,442
JBrowse link
G Nme3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,917,309...13,918,415
Ensembl chr10:13,917,403...13,918,359
JBrowse link
G Noxo1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,721,473...13,726,061
Ensembl chr10:13,721,473...13,726,061
JBrowse link
G Npw neuropeptide W ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,680,275...13,681,618
Ensembl chr10:13,680,321...13,681,586
JBrowse link
G Nthl1 nth-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr10:13,655,791...13,661,958
Ensembl chr10:13,655,785...13,661,957
JBrowse link
G Nubp2 nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,903,224...13,906,928
Ensembl chr10:13,903,224...13,906,969
JBrowse link
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,942,571...14,958,584
Ensembl chr10:14,942,577...14,958,584
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:9328481 PMID:10205261 PMID:11112665 PMID:16114042 PMID:17287951 More... NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
JBrowse link
G Ptx4 pentraxin 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,140,028...14,146,163
Ensembl chr10:14,140,304...14,144,846
JBrowse link
G Rab40c Rab40c, member RAS oncogene family ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,900,926...14,936,165
Ensembl chr10:14,900,929...14,936,557
JBrowse link
G RGD1565784 RGD1565784 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,202,217...14,203,519
Ensembl chr10:14,202,243...14,204,029
JBrowse link
G Rhbdl1 rhomboid like 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,854,514...14,858,848
Ensembl chr10:14,854,514...14,857,430
JBrowse link
G Rhot2 ras homolog family member T2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,858,954...14,864,751
Ensembl chr10:14,858,956...14,864,751
JBrowse link
G Rnf151 ring finger protein 151 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,742,682...13,747,192
Ensembl chr10:13,742,682...13,745,000
JBrowse link
G Rpl3l ribosomal protein L3-like ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,753,914...13,764,458
Ensembl chr10:13,753,886...13,764,457
JBrowse link
G Rps2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,747,316...13,749,165
Ensembl chr10:13,747,301...13,749,163
JBrowse link
G Rpusd1 RNA pseudouridine synthase domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,751,310...14,755,213
Ensembl chr10:14,751,384...14,755,207
JBrowse link
G Slc9a3r2 SLC9A3 regulator 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,662,461...13,672,975
Ensembl chr10:13,662,461...13,673,049
JBrowse link
G Sox8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,584,829...14,589,818
Ensembl chr10:14,584,829...14,589,818
JBrowse link
G Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,907,175...13,912,841
Ensembl chr10:13,907,253...13,912,841
JBrowse link
G Sstr5 somatostatin receptor 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,506,868...14,512,946
Ensembl chr10:14,506,868...14,512,946
JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,850,765...14,853,046
Ensembl chr10:14,850,765...14,853,046
JBrowse link
G Syngr3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,710,553...13,715,312
Ensembl chr10:13,704,998...13,715,669
JBrowse link
G Tbl3 transducin (beta)-like 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,726,127...13,731,340
Ensembl chr10:13,726,129...13,731,372
JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,120,491...14,135,729
Ensembl chr10:14,120,818...14,135,698
JBrowse link
G Tmem204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:14,076,518...14,104,849
Ensembl chr10:14,076,519...14,101,920
JBrowse link
G Tpsab1 tryptase alpha/beta 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,360,396...14,362,811
Ensembl chr10:14,360,396...14,362,811
JBrowse link
G Tpsb2 tryptase beta 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,381,779...14,383,571
Ensembl chr10:14,382,013...14,383,569
JBrowse link
G Tpsg1 tryptase gamma 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,386,352...14,390,258
Ensembl chr10:14,386,352...14,390,258
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:613254
OMIM
ClinVar
CTD
PMID:1112665 PMID:1870099 PMID:2039137 PMID:2139039 PMID:4461062 More... NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
JBrowse link
G Tsr3 TSR3 ribosome maturation factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,257,150...14,259,712
Ensembl chr10:14,257,171...14,259,561
JBrowse link
G Ube2i ubiquitin-conjugating enzyme E2I ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,277,749...14,294,681
Ensembl chr10:69,701,618...69,702,443
Ensembl chr10:69,701,618...69,702,443
JBrowse link
G Unkl unk like zinc finger ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,206,125...14,252,226
Ensembl chr10:14,206,189...14,252,225
JBrowse link
G Wdr24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,844,089...14,848,871
Ensembl chr10:14,843,728...14,848,864
JBrowse link
G Wdr90 WD repeat domain 90 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,864,672...14,881,285
Ensembl chr10:14,864,670...14,881,292
JBrowse link
G Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr10:14,896,442...14,898,770
Ensembl chr10:14,896,378...14,899,863
JBrowse link
G Zfp598 zinc finger protein 598 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr10:13,694,224...13,706,235
Ensembl chr10:13,694,286...13,706,233
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    disease of cellular proliferation 7054
      Multiple Primary Neoplasms 142
        Intestinal Polyposis with Multiple Exostoses 0
        PTEN hamartoma tumor syndrome + 27
        multiple endocrine neoplasia + 12
        tuberous sclerosis + 101
paths to the root