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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:RASopathy
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Accession:DOID:0080690 term browser browse the term
Definition:A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. (DO)
Synonyms:exact_synonym: RAS/mitogen-activated protein kinase syndrome;   RASopathies
 alt_id: DOID:9003333
 xref: EFO:1001502


show annotations for term's descendants           Sort by:
RASopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:22742743 PMID:28492532 NCBI chr11:113,987,709...114,001,354
Ensembl chr11:117,916,043...117,929,636 		JBrowse link
G ADCK2 aarF domain containing kinase 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:132,605,620...132,627,786
Ensembl chr 7:145,078,335...145,100,739 		JBrowse link
G AGK acylglycerol kinase ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:133,438,436...133,580,423
Ensembl chr 7:145,948,154...146,050,512 		JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 1:87,858,602...87,881,348
Ensembl chr 1:122,912,417...122,934,476 		JBrowse link
G AP4B1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 1:88,652,196...88,662,237
Ensembl chr 1:123,701,343...123,711,481 		JBrowse link
G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122 		JBrowse link
G APOA4 apolipoprotein A4 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:111,659,186...111,661,790
Ensembl chr11:115,591,788...115,594,382 		JBrowse link
G APOC3 apolipoprotein C3 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460 		JBrowse link
G ARCN1 archain 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,411,166...113,441,792
Ensembl chr11:117,341,427...117,371,589 		JBrowse link
G ARHGEF12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:115,173,575...115,327,040
Ensembl chr11:119,098,903...119,251,522 		JBrowse link
G ARHGEF33 Rho guanine nucleotide exchange factor 33 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr2A:38,927,384...39,068,565
Ensembl chr2A:39,711,989...39,766,006 		JBrowse link
G ATL2 atlastin GTPase 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr2A:38,318,803...38,405,435
Ensembl chr2A:39,083,033...39,164,137 		JBrowse link
G ATP5MG ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,236,010...113,243,661
Ensembl chr11:117,167,404...117,200,030 		JBrowse link
G ATP6V0A4 ATPase H+ transporting V0 subunit a4 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:130,665,997...130,758,537
Ensembl chr 7:143,154,712...143,218,802 		JBrowse link
G BACE1 beta-secretase 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:112,120,950...112,151,505
Ensembl chr11:116,054,303...116,084,812 		JBrowse link
G BCAS2 BCAS2 pre-mRNA processing factor ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 1:87,972,721...87,986,819
Ensembl chr 1:123,024,910...123,039,068 		JBrowse link
G BCL2L15 BCL2 like 15 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 1:88,668,777...88,680,817
Ensembl chr 1:123,718,972...123,729,418 		JBrowse link
G BCL9L BCL9 like ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,735,852...113,765,811
Ensembl chr11:117,666,995...117,678,598 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies ClinVar PMID:2102266 PMID:2500657 PMID:2851224 PMID:3265306 PMID:8042262 More... NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		JBrowse link
G C1QTNF5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:114,179,998...114,187,761
Ensembl chr11:118,107,706...118,108,774 		JBrowse link
G C2CD2L C2CD2 like ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:22742743 PMID:28492532 NCBI chr11:113,944,939...113,955,296
Ensembl chr11:117,875,077...117,883,581 		JBrowse link
G CASQ2 calsequestrin 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 1:86,795,392...86,864,196
Ensembl chr 1:121,844,097...121,913,311 		JBrowse link
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: RASopathy
ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies		 ClinVar PMID:9536098 PMID:14640702 PMID:15581361 PMID:16199547 PMID:17446348 More... NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671 		JBrowse link
G CDC42EP3 CDC42 effector protein 3 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr2A:37,665,482...37,696,817
Ensembl chr2A:38,433,075...38,433,839 		JBrowse link
G CEBPZ CCAAT enhancer binding protein zeta ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr2A:37,230,245...37,259,113
Ensembl chr2A:37,995,123...38,023,965 		JBrowse link
G CENATAC centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,836,400...113,853,928
Ensembl chr11:117,766,526...117,784,125 		JBrowse link
G CEP164 centrosomal protein 164 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:112,157,774...112,249,004
Ensembl chr11:116,106,847...116,180,516 		JBrowse link
G CLEC2L C-type lectin domain family 2 member L ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:131,468,864...131,490,171
Ensembl chr 7:143,953,455...143,973,570 		JBrowse link
G CLEC5A C-type lectin domain containing 5A ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:133,851,242...133,870,793
Ensembl chr 7:146,320,331...146,339,905 		JBrowse link
G CSDE1 cold shock domain containing E1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 1:87,796,518...87,837,602
Ensembl chr 1:122,849,903...122,890,959 		JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,722,084...113,735,987
Ensembl chr11:117,652,368...117,664,852 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824 		JBrowse link
G DCLRE1B DNA cross-link repair 1B ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 1:88,643,664...88,651,962
Ensembl chr 1:123,692,915...123,701,403 		JBrowse link
G DDX6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,587,220...113,630,995
Ensembl chr11:117,515,778...117,559,364 		JBrowse link
G DENND11 DENN domain containing 11 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:133,578,537...133,628,133 JBrowse link
G DENND2A DENN domain containing 2A ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:132,452,770...132,573,674
Ensembl chr 7:144,926,749...145,012,748 		JBrowse link
G DENND2C DENN domain containing 2C ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 1:87,884,391...87,972,165
Ensembl chr 1:122,937,472...123,022,439 		JBrowse link
G DHX57 DExH-box helicase 57 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr2A:38,835,346...38,913,499
Ensembl chr2A:39,591,619...39,668,282 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:22742743 PMID:28492532 NCBI chr11:113,934,705...113,940,535
Ensembl chr11:117,863,866...117,870,204 		JBrowse link
G DRC12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:22742743 PMID:28492532 NCBI chr11:114,028,927...114,034,620
Ensembl chr11:117,956,945...117,962,655 		JBrowse link
G DSCAML1 DS cell adhesion molecule like 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:112,263,509...112,632,332
Ensembl chr11:116,196,677...116,302,262 		JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr2A:37,130,386...37,184,587
Ensembl chr2A:37,895,814...37,941,686 		JBrowse link
G FMC1 formation of mitochondrial complex V assembly factor 1 homolog ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:131,289,119...131,295,330 JBrowse link
G FOXR1 forkhead box R1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,809,875...113,819,093
Ensembl chr11:117,740,678...117,750,262 		JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:112,654,774...112,666,630
Ensembl chr11:116,587,226...116,595,197 		JBrowse link
G FXYD6 FXYD domain containing ion transport regulator 6 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:112,671,570...112,712,085
Ensembl chr11:116,606,903...116,609,890 		JBrowse link
G GALM galactose mutarotase ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr2A:38,697,338...38,770,470
Ensembl chr2A:39,456,786...39,527,116 		JBrowse link
G GEMIN6 gem nuclear organelle associated protein 6 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr2A:38,814,113...38,818,170
Ensembl chr2A:39,571,506...39,574,472 		JBrowse link
G GRIK4 glutamate ionotropic receptor kainate type subunit 4 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:115,348,836...115,827,873
Ensembl chr11:119,564,412...119,750,000 		JBrowse link
G HINFP histone H4 transcription factor ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:22742743 PMID:28492532 NCBI chr11:113,959,670...113,973,781
Ensembl chr11:117,888,855...117,902,184 		JBrowse link
G HIPK1 homeodomain interacting protein kinase 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 1:88,579,603...88,627,988
Ensembl chr 1:123,633,134...123,677,714 		JBrowse link
G HMBS hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,923,004...113,931,732
Ensembl chr11:117,852,295...117,860,757 		JBrowse link
G HNRNPLL heterogeneous nuclear ribonucleoprotein L like ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr2A:38,585,301...38,629,509
Ensembl chr2A:39,345,857...39,389,842 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:2105486 PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078 		JBrowse link
G HYOU1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,882,418...113,895,438
Ensembl chr11:117,812,975...117,824,005 		JBrowse link
G IFT46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,382,150...113,404,866
Ensembl chr11:117,312,894...117,335,319 		JBrowse link
G IFT56 intraflagellar transport 56 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:131,092,241...131,150,109
Ensembl chr 7:143,579,500...143,636,362 		JBrowse link
G IL10RA interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:112,820,445...112,835,603
Ensembl chr11:116,752,619...116,767,771 		JBrowse link
G JAML junction adhesion molecule like ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,027,829...113,062,344
Ensembl chr11:116,960,436...116,994,373 		JBrowse link
G KDM7A lysine demethylase 7A ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:132,022,983...132,118,881
Ensembl chr 7:144,510,213...144,561,230 		JBrowse link
G KIAA1549 KIAA1549 ortholog ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:130,790,115...130,940,250
Ensembl chr 7:143,283,947...143,427,404 		JBrowse link
G KLRG2 killer cell lectin like receptor G2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:131,399,485...131,431,598
Ensembl chr 7:143,884,701...143,915,138 		JBrowse link
G KMT2A lysine methyltransferase 2A ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,273,198...113,364,404
Ensembl chr11:117,204,820...117,290,100 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies
ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies		 ClinVar PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:6320174 More... NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G LOC100978919 T-cell surface glycoprotein CD3 epsilon chain ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,142,200...113,153,928
Ensembl chr11:117,074,041...117,085,625 		JBrowse link
G LOC100979261 T-cell surface glycoprotein CD3 gamma chain ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,179,270...113,190,104
Ensembl chr11:117,111,132...117,120,566 		JBrowse link
G LOC100979946 T-cell surface glycoprotein CD3 delta chain ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,174,007...113,179,244
Ensembl chr11:117,105,868...117,111,051 		JBrowse link
G LOC100994157 histone H2AX ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,932,078...113,933,679 JBrowse link
G LOC117978217 leucine-rich repeats and immunoglobulin-like domains protein 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies ClinVar PMID:2105486 PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750 		JBrowse link
G LUC7L2 LUC7 like 2, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:131,307,590...131,371,599
Ensembl chr 7:143,774,046...143,855,477 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies ClinVar PMID:16356934 PMID:24362817 PMID:25303977 PMID:25741868 PMID:25741905 More... NCBI chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007 		JBrowse link
G MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 1:88,873,080...88,914,647 JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies ClinVar PMID:1804226 PMID:9536098 PMID:12370306 PMID:12612583 PMID:15917206 More... NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:9536098 PMID:15175348 PMID:16199547 PMID:16439621 PMID:17366577 More... NCBI chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933 		JBrowse link
G MCAM melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:114,149,583...114,158,234
Ensembl chr11:118,078,179...118,083,893 		JBrowse link
G MFRP membrane frizzled-related protein ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:114,179,998...114,187,716
Ensembl chr11:118,107,317...118,115,050 		JBrowse link
G MGAM maltase-glucoamylase ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:133,929,152...134,028,684
Ensembl chr 7:146,398,798...146,498,714 		JBrowse link
G MKRN1 makorin ring finger protein 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:132,391,357...132,417,395
Ensembl chr 7:144,867,541...144,893,658 		JBrowse link
G MKRN2 makorin ring finger protein 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:12,481,268...12,510,196
Ensembl chr 3:12,824,341...12,853,520 		JBrowse link
G MORN2 MORN repeat containing 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr2A:38,913,533...38,920,189 JBrowse link
G MPZL2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,063,961...113,102,097
Ensembl chr11:117,023,102...117,034,209 		JBrowse link
G MPZL3 myelin protein zero like 3 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,063,957...113,089,929
Ensembl chr11:116,996,090...117,022,051 		JBrowse link
G MRAS muscle RAS oncogene homolog ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:25741868 PMID:28289718 PMID:30348783 PMID:31108500 PMID:31638832 NCBI chr 3:135,377,488...135,435,338
Ensembl chr 3:142,827,020...142,884,582 		JBrowse link
G MRPS33 mitochondrial ribosomal protein S33 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:132,936,387...132,945,266
Ensembl chr 7:145,407,645...145,416,435 		JBrowse link
G NDUFAF7 NADH:ubiquinone oxidoreductase complex assembly factor 7 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr2A:37,259,111...37,289,918
Ensembl chr2A:38,023,874...38,041,425 		JBrowse link
G NDUFB2 NADH:ubiquinone oxidoreductase subunit B2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:132,629,353...132,654,824
Ensembl chr 7:145,101,602...145,128,866 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:114,497,177...114,565,338
Ensembl chr11:118,401,321...118,493,090 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:10712197 PMID:16199547 PMID:23913538 PMID:24789688 PMID:25741868 More... NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295 		JBrowse link
G NGF nerve growth factor ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 1:87,223,597...87,276,759 JBrowse link
G NHERF4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:22742743 PMID:28492532 NCBI chr11:114,024,150...114,028,884
Ensembl chr11:117,952,154...117,956,879 		JBrowse link
G NLRX1 NLR family member X1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:22742743 PMID:28492532 NCBI chr11:114,007,415...114,022,712
Ensembl chr11:117,935,444...117,950,728 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies ClinVar PMID:2278970 PMID:2674680 PMID:3122217 PMID:8120410 PMID:9536098 More... NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585 		JBrowse link
G OAF out at first homolog ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:115,045,790...115,065,032
Ensembl chr11:118,972,574...118,991,170 		JBrowse link
G OLFML3 olfactomedin like 3 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 1:88,575,167...88,577,992
Ensembl chr 1:123,624,824...123,627,681 		JBrowse link
G PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:111,978,368...112,005,064
Ensembl chr11:115,911,803...115,944,351 		JBrowse link
G PARP12 poly(ADP-ribose) polymerase family member 12 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:131,962,104...132,001,945
Ensembl chr 7:144,442,973...144,480,006 		JBrowse link
G PCSK7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:112,035,502...112,066,170
Ensembl chr11:115,972,414...115,999,748 		JBrowse link
G PHLDB1 pleckstrin homology like domain family B member 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,446,275...113,496,941
Ensembl chr11:117,376,205...117,426,391 		JBrowse link
G PHTF1 putative homeodomain transcription factor 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 1:88,796,456...88,860,464
Ensembl chr 1:123,845,818...123,906,285 		JBrowse link
G POU2F3 POU class 2 homeobox 3 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:115,075,399...115,156,307
Ensembl chr11:119,001,408...119,082,531 		JBrowse link
G PRKD3 protein kinase D3 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr2A:37,278,043...37,352,364
Ensembl chr2A:38,042,771...38,116,394 		JBrowse link
G PRSS37 serine protease 37 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:133,767,802...133,773,321
Ensembl chr 7:146,236,906...146,242,157 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies
ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies		 ClinVar PMID:1635821 PMID:1672296 PMID:2057894 PMID:2564168 PMID:2572450 More... NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830 		JBrowse link
G QPCT glutaminyl-peptide cyclotransferase ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr2A:37,371,848...37,400,820
Ensembl chr2A:38,136,532...38,165,254 		JBrowse link
G RAB19 RAB19, member RAS oncogene family ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:132,345,288...132,367,298
Ensembl chr 7:144,824,042...144,844,761 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies ClinVar PMID:1760348 PMID:8601312 PMID:9536098 PMID:9705288 PMID:10064593 More... NCBI chr 3:12,510,084...12,590,598
Ensembl chr 3:12,853,415...12,932,871 		JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies ClinVar PMID:2439608 PMID:7109146 PMID:8462668 PMID:23791108 PMID:24033266 More... NCBI chr 1:131,232,277...131,245,437
Ensembl chr 1:135,063,000...135,074,942 		JBrowse link
G RMDN2 regulator of microtubule dynamics 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr2A:37,948,081...38,087,498
Ensembl chr2A:38,716,147...38,800,755 		JBrowse link
G RNF214 ring finger protein 214 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:112,066,666...112,121,051
Ensembl chr11:116,002,034...116,054,282 		JBrowse link
G RNF26 ring finger protein 26 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:114,175,586...114,178,379
Ensembl chr11:118,103,505...118,104,806 		JBrowse link
G RPL6 ribosomal protein L6 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr12:110,002,667...110,008,899
Ensembl chr12:113,398,795...113,403,186 		JBrowse link
G RPS25 ribosomal protein S25 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,853,891...113,856,636
Ensembl chr11:117,784,075...117,787,104 		JBrowse link
G RREB1 ras responsive element binding protein 1 ISO MouseDO NCBI chr 6:6,945,205...7,089,757
Ensembl chr 6:7,257,875...7,356,544 		JBrowse link
G RSBN1 round spermatid basic protein 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 1:88,744,456...88,795,224
Ensembl chr 1:123,791,001...123,842,696 		JBrowse link
G SC5D sterol-C5-desaturase ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:116,139,979...116,160,745
Ensembl chr11:120,063,743...120,078,386 		JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:112,996,609...113,010,412
Ensembl chr11:116,928,676...116,942,500 		JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:112,967,190...112,986,727
Ensembl chr11:116,899,268...116,918,892 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: RASopathy
ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies		 ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:19684605 PMID:20882035 More... NCBI chr10:107,512,795...107,606,627
Ensembl chr10:110,993,556...111,055,312 		JBrowse link
G SIDT2 SID1 transmembrane family member 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:112,012,734...112,031,403
Ensembl chr11:115,946,725...115,963,408 		JBrowse link
G SIK3 SIK family kinase 3 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:111,680,884...111,932,424
Ensembl chr11:115,613,478...115,730,158 		JBrowse link
G SIKE1 suppressor of IKBKE 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 1:87,773,469...87,785,099
Ensembl chr 1:122,827,264...122,838,491 		JBrowse link
G SLC16A1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 1:115,555,561...115,600,302
Ensembl chr 1:124,755,250...124,800,032 		JBrowse link
G SLC37A3 solute carrier family 37 member 3 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:132,236,350...132,338,150
Ensembl chr 7:144,755,561...144,815,491 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,862,537...113,869,447
Ensembl chr11:117,792,700...117,799,269 		JBrowse link
G SNAPC5 small nuclear RNA activating complex polypeptide 5 ISO ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:45,440,597...45,446,007
Ensembl chr15:63,712,363...63,720,420 		JBrowse link
G SORL1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:116,297,014...116,477,399
Ensembl chr11:120,222,491...120,402,432 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies ClinVar PMID:1758637 PMID:9030684 PMID:9536098 PMID:10675333 PMID:11333268 More... NCBI chr2A:39,019,046...39,162,248
Ensembl chr2A:39,773,760...39,911,961 		JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:25741868 PMID:25795793 PMID:26173643 PMID:27942422 PMID:28492532 More... NCBI chr14:30,707,477...30,822,029
Ensembl chr14:49,014,782...49,101,764 		JBrowse link
G SRSF7 serine and arginine rich splicing factor 7 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr2A:38,780,879...38,787,470
Ensembl chr2A:39,536,731...39,545,562 		JBrowse link
G SSBP1 single stranded DNA binding protein 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:133,670,085...133,682,228
Ensembl chr 7:146,139,837...146,151,495 		JBrowse link
G SULT6B1 sulfotransferase family 6B member 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr2A:37,194,931...37,224,700
Ensembl chr2A:37,959,377...37,980,695 		JBrowse link
G SYCP1 synaptonemal complex protein 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 1:87,565,888...87,701,530
Ensembl chr 1:122,614,520...122,754,137 		JBrowse link
G SYT6 synaptotagmin 6 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 1:88,397,809...88,467,493
Ensembl chr 1:123,452,889...123,514,795 		JBrowse link
G TAGLN transgelin ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:112,033,257...112,038,749
Ensembl chr11:115,966,516...115,972,129 		JBrowse link
G TAS2R3 taste 2 receptor member 3 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:133,692,537...133,701,441
Ensembl chr 7:146,165,148...146,166,098 		JBrowse link
G TAS2R38 taste 2 receptor member 38 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:133,896,405...133,897,535
Ensembl chr 7:146,365,527...146,366,528 		JBrowse link
G TAS2R4 taste 2 receptor member 4 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:133,707,669...133,712,521
Ensembl chr 7:146,179,311...146,180,210 		JBrowse link
G TAS2R5 taste 2 receptor member 5 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:133,721,621...133,723,728
Ensembl chr 7:146,191,231...146,192,130 		JBrowse link
G TBXAS1 thromboxane A synthase 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:131,772,947...131,958,647
Ensembl chr 7:144,255,211...144,439,523 		JBrowse link
G THY1 Thy-1 cell surface antigen ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:114,253,535...114,259,495
Ensembl chr11:118,180,717...118,186,901 		JBrowse link
G TLCD5 TLC domain containing 5 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:115,161,556...115,170,850
Ensembl chr11:119,087,580...119,093,621 		JBrowse link
G TMEM178B transmembrane protein 178B ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:132,997,828...133,404,714
Ensembl chr 7:145,469,580...145,865,699 		JBrowse link
G TMEM213 transmembrane protein 213 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:130,758,215...130,765,607
Ensembl chr 7:143,245,974...143,284,073 		JBrowse link
G TMEM25 transmembrane protein 25 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,368,595...113,384,290
Ensembl chr11:117,299,183...117,314,494 		JBrowse link
G TMEM40 transmembrane protein 40 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 3:12,659,302...12,685,334
Ensembl chr 3:13,003,128...13,018,783 		JBrowse link
G TMPRSS13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:112,735,048...112,763,561
Ensembl chr11:116,666,773...116,686,762 		JBrowse link
G TMPRSS4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:112,910,223...112,953,677
Ensembl chr11:116,843,287...116,884,767 		JBrowse link
G TRAPPC4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,856,661...113,861,855
Ensembl chr11:117,786,838...117,793,395 		JBrowse link
G TREH trehalase ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,496,561...113,519,230
Ensembl chr11:117,426,597...117,448,445 		JBrowse link
G TRIM29 tripartite motif containing 29 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:114,946,176...114,973,186
Ensembl chr11:118,872,831...118,899,708 		JBrowse link
G TRIM33 tripartite motif containing 33 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 1:88,043,031...88,163,804
Ensembl chr 1:123,095,244...123,210,355 		JBrowse link
G TSEN2 tRNA splicing endonuclease subunit 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 3:12,410,885...12,463,932
Ensembl chr 3:12,759,375...12,800,201 		JBrowse link
G TSHB thyroid stimulating hormone subunit beta ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 1:87,527,267...87,531,813
Ensembl chr 1:122,575,546...122,580,028 		JBrowse link
G TSPAN2 tetraspanin 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 1:87,472,017...87,511,719
Ensembl chr 1:122,520,308...122,561,850 		JBrowse link
G TTC36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,364,559...113,368,586
Ensembl chr11:117,295,191...117,298,928 		JBrowse link
G UBE4A ubiquitination factor E4A ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,193,986...113,233,660
Ensembl chr11:117,131,100...117,162,385 		JBrowse link
G UBN2 ubinuclein 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:131,179,164...131,256,244
Ensembl chr 7:143,664,596...143,730,647 		JBrowse link
G UPK2 uroplakin 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,768,506...113,796,564
Ensembl chr11:117,724,038...117,726,313 		JBrowse link
G USP2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:114,196,725...114,223,411
Ensembl chr11:118,124,350...118,150,868 		JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 1:86,865,983...86,922,175
Ensembl chr 1:121,921,934...121,970,552 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr11:113,905,989...113,920,163
Ensembl chr11:117,835,557...117,849,389 		JBrowse link
G WEE2 WEE2 oocyte meiosis inhibiting kinase ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:133,635,359...133,663,153
Ensembl chr 7:146,110,121...146,132,872 		JBrowse link
G ZC3HAV1 zinc finger CCCH-type containing, antiviral 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:131,002,580...131,068,513
Ensembl chr 7:143,489,750...143,555,438 		JBrowse link
G ZC3HAV1L zinc finger CCCH-type containing, antiviral 1 like ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 7:130,985,125...130,995,225
Ensembl chr 7:143,472,771...143,482,267 		JBrowse link
cardiofaciocutaneous syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar PMID:2500657 PMID:4386970 PMID:5771505 PMID:8042262 PMID:11313766 More... NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar PMID:8234268 PMID:16474404 PMID:16474405 PMID:16987887 PMID:17056636 More... NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar PMID:1804226 PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 More... NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar PMID:16439621 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18413255 More... NCBI chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: CFC syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar PMID:28492532 NCBI chr 1:131,232,277...131,245,437
Ensembl chr 1:135,063,000...135,074,942 		JBrowse link
G SNAPC5 small nuclear RNA activating complex polypeptide 5 ISO ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar NCBI chr15:45,440,597...45,446,007
Ensembl chr15:63,712,363...63,720,420 		JBrowse link
cardiofaciocutaneous syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 OMIM
ClinVar		 PMID:2102266 PMID:2500657 PMID:2851224 PMID:3265306 PMID:4386970 More... NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar PMID:8234268 PMID:17056636 PMID:18958496 PMID:21784453 PMID:24033266 More... NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar PMID:17366577 PMID:24719372 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933 		JBrowse link
cardiofaciocutaneous syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 2 OMIM
ClinVar		 PMID:8246952 PMID:12110640 PMID:14982869 PMID:16474404 PMID:16474405 More... NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
cardiofaciocutaneous syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 3 | ClinVar Annotator: match by term: MAP2K1-Related Disorder OMIM
ClinVar		 PMID:1804226 PMID:12370306 PMID:12612583 PMID:15917206 PMID:16199547 More... NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161 		JBrowse link
cardiofaciocutaneous syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 4 | ClinVar Annotator: match by term: MAP2K2-related condition OMIM
ClinVar		 PMID:9536098 PMID:16439621 PMID:17366577 PMID:17576681 PMID:17981815 More... NCBI chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933 		JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNF135 ring finger protein 135 ISO ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome ClinVar PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr17:25,843,447...25,869,874 JBrowse link
Costello syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:28492532 NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Costello syndrome | ClinVar Annotator: match by term: FCS syndrome OMIM
ClinVar		 PMID:1362901 PMID:2105486 PMID:2674130 PMID:2999610 PMID:3004741 More... NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17468812 PMID:17703371 NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Costello syndrome | ClinVar Annotator: match by term: FCS syndrome ClinVar PMID:1362901 PMID:2105486 PMID:2674130 PMID:2999610 PMID:3004741 More... NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:28492532 NCBI chr15:17,182,976...17,286,566
Ensembl chr15:35,439,762...35,536,565 		JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:2946667 PMID:7898523 PMID:10085122 PMID:10405326 PMID:10610467 More... NCBI chr 1:176,957,298...176,976,033 JBrowse link
Legius syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM98B family with sequence similarity 98 member B ISO ClinVar Annotator: match by term: Legius syndrome ClinVar PMID:21548021 PMID:22753041 PMID:28492532 NCBI chr15:17,383,298...17,415,682 JBrowse link
G LINC02694 long intergenic non-protein coding RNA 2694 ISO ClinVar Annotator: match by term: Legius syndrome ClinVar PMID:21548021 PMID:22753041 PMID:28492532 NCBI chr15:17,625,792...17,629,200 JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 ISO ClinVar Annotator: match by term: Legius syndrome ClinVar PMID:21548021 PMID:22753041 PMID:28492532 NCBI chr15:17,417,684...17,494,333
Ensembl chr15:35,675,348...35,750,315 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Legius syndrome | ClinVar Annotator: match by term: Neurofibromatosis type 1 like syndrome OMIM
ClinVar		 PMID:2275304 PMID:9536098 PMID:15683364 PMID:16199547 PMID:17576681 More... NCBI chr15:17,182,976...17,286,566
Ensembl chr15:35,439,762...35,536,565 		JBrowse link
neurofibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis | ClinVar Annotator: match by term: Neurofibromatosis type 6 ClinVar PMID:9150739 PMID:9180088 PMID:10678181 PMID:10712197 PMID:14722917 More... NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis ClinVar PMID:17704776 PMID:24469042 PMID:25741868 PMID:28492532 NCBI chr15:17,182,976...17,286,566
Ensembl chr15:35,439,762...35,536,565 		JBrowse link
neurofibromatosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD15 abhydrolase domain containing 15 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:27,207,536...27,214,110
Ensembl chr17:27,723,540...27,729,540 		JBrowse link
G ADAP2 ArfGAP with dual PH domains 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:25,881,050...25,920,260
Ensembl chr17:25,371,444...25,408,751 		JBrowse link
G ANKRD13B ankyrin repeat domain 13B ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:27,159,796...27,181,528
Ensembl chr17:27,676,809...27,684,253 		JBrowse link
G ATAD5 ATPase family AAA domain containing 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:25,944,259...26,009,317
Ensembl chr17:25,436,195...25,496,242 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO protein:decreased expression:blood RGD PMID:22120694 RGD:6483542 NCBI chr 1:131,583,789...131,586,459
Ensembl chr 1:135,413,871...135,416,432 		JBrowse link
G BLMH bleomycin hydrolase ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:26,476,039...26,519,782
Ensembl chr17:26,993,361...27,038,131 		JBrowse link
G CORO6 coronin 6 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:27,151,620...27,159,795
Ensembl chr17:27,668,659...27,676,808 		JBrowse link
G CPD carboxypeptidase D ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:26,302,112...26,389,049
Ensembl chr17:26,821,641...26,908,257 		JBrowse link
G CRLF3 cytokine receptor like factor 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:26,015,224...26,057,668
Ensembl chr17:25,523,472...25,545,460 		JBrowse link
G CRYBA1 crystallin beta A1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:27,522,647...27,530,767
Ensembl chr17:28,032,809...28,040,525 		JBrowse link
G EFCAB5 EF-hand calcium binding domain 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:26,661,188...26,846,483
Ensembl chr17:27,179,510...27,352,621 		JBrowse link
G EVI2A ecotropic viral integration site 2A ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:1568247 PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 More... NCBI chr17:25,476,668...25,482,394
Ensembl chr17:26,215,638...26,216,348 		JBrowse link
G EVI2B ecotropic viral integration site 2B ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:1568247 PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 More... NCBI chr17:25,484,228...25,495,150
Ensembl chr17:26,229,023...26,230,368 		JBrowse link
G GABBR1 gamma-aminobutyric acid type B receptor subunit 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:25741868 NCBI chr 6:29,405,026...29,437,108
Ensembl chr 6:30,065,119...30,095,304 		JBrowse link
G GIT1 GIT ArfGAP 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:27,185,025...27,201,146
Ensembl chr17:27,706,776...27,717,857 		JBrowse link
G GOSR1 golgi SNAP receptor complex member 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:26,248,771...26,293,872
Ensembl chr17:26,769,855...26,813,775 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis | ClinVar Annotator: match by term: Von Recklinghausen disease
ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Von Recklinghausen disease		 OMIM
ClinVar		 PMID:190611 PMID:1071297 PMID:1302608 PMID:1370276 PMID:1483690 More... NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013 		JBrowse link
G NSRP1 nuclear speckle splicing regulatory protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:26,581,886...26,653,137
Ensembl chr17:27,100,683...27,171,043 		JBrowse link
G NUFIP2 nuclear FMR1 interacting protein 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:27,482,374...27,521,466
Ensembl chr17:27,994,745...28,022,755 		JBrowse link
G RNF135 ring finger protein 135 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:25,843,447...25,869,874 JBrowse link
G SLC6A4 solute carrier family 6 member 4 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:26,546,177...26,572,301
Ensembl chr17:27,050,900...27,092,882 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17704776 NCBI chr15:17,182,976...17,286,566
Ensembl chr15:35,439,762...35,536,565 		JBrowse link
G SSH2 slingshot protein phosphatase 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:26,845,369...27,148,615
Ensembl chr17:27,363,861...27,665,630 		JBrowse link
G TAOK1 TAO kinase 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:27,222,725...27,385,713
Ensembl chr17:27,746,797...27,840,623 		JBrowse link
G TEFM transcription elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:25,933,934...25,941,220
Ensembl chr17:25,423,956...25,432,198 		JBrowse link
G TMIGD1 transmembrane and immunoglobulin domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:26,434,052...26,451,937
Ensembl chr17:26,952,956...26,970,501 		JBrowse link
G TP53I13 tumor protein p53 inducible protein 13 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:27,201,464...27,207,347
Ensembl chr17:27,718,175...27,722,447 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO mRNA,protein:increased expression:dermis RGD PMID:12930297 RGD:8547970 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		JBrowse link
neurofibromatosis-Noonan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:28492532 NCBI chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis with Noonan phenotype | ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome OMIM
ClinVar		 PMID:190611 PMID:1568246 PMID:1757093 PMID:1783401 PMID:2114220 More... NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:22465605 PMID:28074573 PMID:28492532 NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr15:17,182,976...17,286,566
Ensembl chr15:35,439,762...35,536,565 		JBrowse link
Noonan Like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Noonan-like syndrome ClinVar PMID:19620960 PMID:20951944 PMID:24033266 PMID:25741868 PMID:27069254 More... NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671 		JBrowse link
G CDC42 cell division cycle 42 ISO ClinVar Annotator: match by term: Noonan-like syndrome ClinVar PMID:25741868 PMID:29394990 NCBI chr 1:21,245,970...21,286,210 JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO DNA:missense mutations:cds:p.D106A, p.F285L (human) RGD PMID:15996221 RGD:11064737 NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS ClinVar PMID:1758637 PMID:9030684 PMID:9536098 PMID:10675333 PMID:14551916 More... NCBI chr2A:39,019,046...39,162,248
Ensembl chr2A:39,773,760...39,911,961 		JBrowse link
Noonan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2ML1 alpha-2-macroglobulin like 1 ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:24939586 PMID:25741868 PMID:26446362 PMID:27942422 PMID:28492532 More... NCBI chr12:8,909,111...8,961,857
Ensembl chr12:9,122,447...9,192,371 		JBrowse link
G APAF1 apoptotic peptidase activating factor 1 ISO MouseDO NCBI chr12:96,224,515...96,311,246
Ensembl chr12:99,637,622...99,726,939 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome | ClinVar Annotator: match by term: Turner phenotype with normal karyotype		 ClinVar PMID:2500657 PMID:2851224 PMID:3265306 PMID:11313766 PMID:12068308 More... NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		JBrowse link
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:16199547 PMID:18698078 PMID:19571318 PMID:19620960 PMID:20543203 More... NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671 		JBrowse link
G DMPK DM1 protein kinase ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar NCBI chr19:42,779,173...42,791,981
Ensembl chr19:51,316,099...51,329,355 		JBrowse link
G EPHA2 EPH receptor A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22845314 NCBI chr 1:15,259,915...15,292,983
Ensembl chr 1:16,253,513...16,284,787 		JBrowse link
G F11 coagulation factor XI ISO protein:decreased expression:plasma: RGD PMID:3354599 RGD:11041743 NCBI chr 4:178,436,865...178,459,568
Ensembl chr 4:190,643,733...190,666,512 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078 		JBrowse link
G IGF1 insulin like growth factor 1 treatment ISO protein:decreased expression:serum (mouse) RGD PMID:16263833 PMID:22371576 RGD:11063837 RGD:11352540 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177 		JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit ISO RGD PMID:16263833 RGD:11063837 NCBI chr16:412,671...418,351
Ensembl chr16:1,843,979...1,848,442 		JBrowse link
G KAT6B lysine acetyltransferase 6B ISO RGD
MouseDO		 PMID:21804188 RGD:9590337 NCBI chr10:71,354,585...71,561,572
Ensembl chr10:74,035,496...74,223,975 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:8234268 PMID:8246952 PMID:10590419 PMID:10681080 PMID:12110640 More... NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G LOC100982214 plasminogen ISO protein:decreased activity:blood: RGD PMID:20686427 RGD:13207331 NCBI chr 6:158,662,192...158,713,413
Ensembl chr 6:163,673,464...163,736,777 		JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:16356934 PMID:25741868 PMID:25795793 PMID:26467025 PMID:28492532 More... NCBI chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 PMID:17366577 More... NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:17981815 PMID:18039235 PMID:18042262 PMID:18413255 PMID:18456719 More... NCBI chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome		 ClinVar PMID:2674680 PMID:8120410 PMID:10598665 PMID:12460918 PMID:14982869 More... NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585 		JBrowse link
G PLAT plasminogen activator, tissue type ISO protein:increased activity:blood: RGD PMID:20686427 RGD:13207331 NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779 		JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 PMID:27868344 More... NCBI chr2A:28,758,176...28,809,561
Ensembl chr2A:28,862,083...28,889,401 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:1635821 PMID:1672296 PMID:2057894 PMID:2564168 PMID:2572450 More... NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:1760348 PMID:10064593 PMID:11447113 PMID:11933072 PMID:12077328 More... NCBI chr 3:12,510,084...12,590,598
Ensembl chr 3:12,853,415...12,932,871 		JBrowse link
G RASA2 RAS p21 protein activator 2 ISO DNA:missense mutations:exon:multiple (human) RGD PMID:25049390 RGD:11096563 NCBI chr 3:138,520,013...138,648,798
Ensembl chr 3:146,108,019...146,245,637 		JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:2439608 PMID:2657980 PMID:7109146 PMID:8462668 PMID:23791108 More... NCBI chr 1:131,232,277...131,245,437
Ensembl chr 1:135,063,000...135,074,942 		JBrowse link
G RRAS RAS related ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:24705357 PMID:25741868 More... NCBI chr19:46,649,892...46,654,754
Ensembl chr19:55,569,749...55,573,721 		JBrowse link
G RRAS2 RAS related 2 ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:8052619 PMID:25741868 PMID:28492532 PMID:31130282 PMID:31130285 NCBI chr11:14,381,173...14,462,192
Ensembl chr11:14,073,679...14,159,611 		JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:decreased activity:blood: RGD PMID:20686427 RGD:13207331 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chr10:107,512,795...107,606,627
Ensembl chr10:110,993,556...111,055,312 		JBrowse link
G SNAPC5 small nuclear RNA activating complex polypeptide 5 ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:28492532 NCBI chr15:45,440,597...45,446,007
Ensembl chr15:63,712,363...63,720,420 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:1758637 PMID:11333268 PMID:16267129 PMID:17143282 PMID:17143285 More... NCBI chr2A:39,019,046...39,162,248
Ensembl chr2A:39,773,760...39,911,961 		JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:25741868 PMID:25795793 PMID:26173643 PMID:27942422 PMID:28492532 More... NCBI chr14:30,707,477...30,822,029
Ensembl chr14:49,014,782...49,101,764 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:28492532 NCBI chr15:17,182,976...17,286,566
Ensembl chr15:35,439,762...35,536,565 		JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:25741868 PMID:34626534 NCBI chr2A:65,380,608...65,503,139
Ensembl chr2A:66,503,260...66,624,840 		JBrowse link
Noonan syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2ML1 alpha-2-macroglobulin like 1 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:28492532 NCBI chr12:8,909,111...8,961,857
Ensembl chr12:9,122,447...9,192,371 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:2500657 PMID:2851224 PMID:11313766 PMID:12068308 PMID:12460918 More... NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		JBrowse link
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:20543203 PMID:20694012 PMID:25283271 PMID:25741868 PMID:25952305 More... NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671 		JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:30311386 NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:16474404 PMID:16474405 PMID:16773572 PMID:17056636 PMID:17551339 More... NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:16356934 PMID:25335493 PMID:25741868 PMID:25795793 PMID:26467025 More... NCBI chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 PMID:17366577 More... NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:17366577 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18413255 More... NCBI chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:17671181 PMID:19966803 PMID:21263000 PMID:22220252 PMID:22499344 More... NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Noonan syndrome 1 OMIM
ClinVar		 PMID:1635821 PMID:1672296 PMID:2057894 PMID:2564168 PMID:2572450 More... NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:1760348 PMID:10064593 PMID:17603482 PMID:17603483 PMID:17603487 More... NCBI chr 3:12,510,084...12,590,598
Ensembl chr 3:12,853,415...12,932,871 		JBrowse link
G RASA2 RAS p21 protein activator 2 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar NCBI chr 3:138,520,013...138,648,798
Ensembl chr 3:146,108,019...146,245,637 		JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:2439608 PMID:8462668 PMID:23791108 PMID:24033266 PMID:24469055 More... NCBI chr 1:131,232,277...131,245,437
Ensembl chr 1:135,063,000...135,074,942 		JBrowse link
G RPL6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar NCBI chr12:110,002,667...110,008,899
Ensembl chr12:113,398,795...113,403,186 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:17143282 PMID:17143285 PMID:17586837 PMID:18456719 PMID:18651097 More... NCBI chr2A:39,019,046...39,162,248
Ensembl chr2A:39,773,760...39,911,961 		JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:25741868 PMID:25795793 PMID:26173643 PMID:28492532 PMID:29493581 NCBI chr14:30,707,477...30,822,029
Ensembl chr14:49,014,782...49,101,764 		JBrowse link
Noonan syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LZTR1 leucine zipper like post translational regulator 1 susceptibility ISO ClinVar Annotator: match by term: LZTR1-Related Disorder | ClinVar Annotator: match by term: Noonan syndrome 10 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:16356934 PMID:17576681 PMID:18948947 More... NCBI chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007 		JBrowse link
Noonan syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRAS muscle RAS oncogene homolog ISO ClinVar Annotator: match by term: Noonan syndrome 11 OMIM
ClinVar		 PMID:25252692 PMID:25741868 PMID:28289718 PMID:28492532 PMID:30348783 More... NCBI chr 3:135,377,488...135,435,338
Ensembl chr 3:142,827,020...142,884,582 		JBrowse link
Noonan syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RRAS2 RAS related 2 ISO ClinVar Annotator: match by term: Noonan syndrome 12 | ClinVar Annotator: match by term: RRAS2-related condition OMIM
ClinVar		 PMID:8052619 PMID:25741868 PMID:28492532 PMID:31130282 PMID:31130285 More... NCBI chr11:14,381,173...14,462,192
Ensembl chr11:14,073,679...14,159,611 		JBrowse link
Noonan syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAPK1 mitogen-activated protein kinase 1 ISO ClinVar Annotator: match by term: Noonan syndrome 13 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32721402 NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335 		JBrowse link
Noonan Syndrome 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPRED2 sprouty related EVH1 domain containing 2 ISO ClinVar Annotator: match by term: Noonan syndrome 14 OMIM
ClinVar		 PMID:25741868 PMID:34626534 NCBI chr2A:65,380,608...65,503,139
Ensembl chr2A:66,503,260...66,624,840 		JBrowse link
Noonan syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LZTR1 leucine zipper like post translational regulator 1 susceptibility ISO ClinVar Annotator: match by term: Noonan syndrome 2 | ClinVar Annotator: match by term: Noonan syndrome autosomal recessive ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24362817 PMID:25335493 More... NCBI chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007 		JBrowse link
Noonan syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Noonan syndrome 3 ClinVar PMID:1904555 PMID:3510078 PMID:12727991 PMID:19855393 PMID:25157968 More... NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Noonan syndrome 3 OMIM
ClinVar		 PMID:8246952 PMID:10590419 PMID:10681080 PMID:12110640 PMID:14982869 More... NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Noonan syndrome 3 ClinVar PMID:1904555 PMID:3510078 PMID:12727991 PMID:19855393 PMID:25157968 More... NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Noonan syndrome 3 ClinVar PMID:2057894 PMID:11704759 PMID:11992261 PMID:12161469 PMID:12325025 More... NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Noonan syndrome 3 ClinVar PMID:17603482 PMID:22821648 PMID:25741868 PMID:28492532 PMID:30157809 More... NCBI chr 3:12,510,084...12,590,598
Ensembl chr 3:12,853,415...12,932,871 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Noonan syndrome 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:107,512,795...107,606,627
Ensembl chr10:110,993,556...111,055,312 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Noonan syndrome 3 ClinVar PMID:17143282 PMID:17143285 PMID:17586837 PMID:19020799 PMID:19352411 More... NCBI chr2A:39,019,046...39,162,248
Ensembl chr2A:39,773,760...39,911,961 		JBrowse link
Noonan syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Noonan syndrome 4 | ClinVar Annotator: match by term: SOS1-related condition OMIM
ClinVar		 PMID:1758637 PMID:9030684 PMID:9536098 PMID:10675333 PMID:14551916 More... NCBI chr2A:39,019,046...39,162,248
Ensembl chr2A:39,773,760...39,911,961 		JBrowse link
Noonan syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MKRN2 makorin ring finger protein 2 ISO ClinVar Annotator: match by term: Noonan syndrome 5 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:12,481,268...12,510,196
Ensembl chr 3:12,824,341...12,853,520 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Noonan syndrome 5 OMIM
ClinVar		 PMID:1760348 PMID:9536098 PMID:10064593 PMID:10497893 PMID:14701845 More... NCBI chr 3:12,510,084...12,590,598
Ensembl chr 3:12,853,415...12,932,871 		JBrowse link
Noonan syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Noonan syndrome 6 OMIM
ClinVar		 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 More... NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585 		JBrowse link
Noonan syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Noonan syndrome 7 OMIM
ClinVar		 PMID:2500657 PMID:2851224 PMID:11313766 PMID:12068308 PMID:12460918 More... NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		JBrowse link
Noonan syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 1:131,282,514...131,326,535
Ensembl chr 1:135,112,040...135,159,299 		JBrowse link
G DAP3 death associated protein 3 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 PMID:30684668 PMID:31463572 NCBI chr 1:131,024,977...131,072,860
Ensembl chr 1:134,876,063...134,905,280 		JBrowse link
G GON4L gon-4 like ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 PMID:30684668 PMID:31463572 NCBI chr 1:131,084,009...131,193,884
Ensembl chr 1:134,917,791...135,020,042 		JBrowse link
G KHDC4 KH domain containing 4, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 1:131,246,577...131,268,296
Ensembl chr 1:135,076,831...135,097,760 		JBrowse link
G LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 1:131,396,937...131,400,695
Ensembl chr 1:135,226,400...135,230,167 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539 		JBrowse link
G LOC100988711 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 PMID:30684668 PMID:31463572 NCBI chr 1:131,079,871...131,084,486 JBrowse link
G MEX3A mex-3 RNA binding family member A ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 1:131,414,225...131,424,680
Ensembl chr 1:135,247,776...135,254,034 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:25741868 PMID:26619011 PMID:27631024 NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977 		JBrowse link
G RAB25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 1:131,403,058...131,412,722
Ensembl chr 1:135,232,544...135,241,732 		JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Noonan syndrome 8 | ClinVar Annotator: match by term: RIT1-related condition OMIM
ClinVar		 PMID:2439608 PMID:2657980 PMID:7109146 PMID:8462668 PMID:9536098 More... NCBI chr 1:131,232,277...131,245,437
Ensembl chr 1:135,063,000...135,074,942 		JBrowse link
G RXFP4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 1:131,275,631...131,279,593
Ensembl chr 1:135,106,884...135,108,008 		JBrowse link
G SSR2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 1:131,349,072...131,361,008 JBrowse link
G SYT11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 PMID:30684668 PMID:31463572 NCBI chr 1:131,193,999...131,218,752
Ensembl chr 1:135,026,032...135,046,943 		JBrowse link
G UBQLN4 ubiquilin 4 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 1:131,374,635...131,395,986
Ensembl chr 1:135,209,490...135,225,666 		JBrowse link
G YY1AP1 YY1 associated protein 1 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 PMID:30684668 PMID:31463572 NCBI chr 1:130,995,949...131,024,985
Ensembl chr 1:134,594,908...134,623,588 		JBrowse link
Noonan syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L2HGDH L-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Noonan syndrome 9 ClinVar PMID:28492532 NCBI chr14:30,832,194...30,901,922
Ensembl chr14:49,132,396...49,205,993 		JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Noonan syndrome 9 | ClinVar Annotator: match by term: SOS2-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17143282 PMID:17143285 PMID:17576681 More... NCBI chr14:30,707,477...30,822,029
Ensembl chr14:49,014,782...49,101,764 		JBrowse link
Noonan syndrome with multiple lentigines term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines ClinVar PMID:17704260 PMID:18042262 PMID:19206169 PMID:19416762 PMID:20301557 More... NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		JBrowse link
G EPHA2 EPH receptor A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22845314 NCBI chr 1:15,259,915...15,292,983
Ensembl chr 1:16,253,513...16,284,787 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines ClinVar PMID:17366577 PMID:24033266 PMID:24719372 PMID:28492532 PMID:30773290 NCBI chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933 		JBrowse link
G PPP1R13L protein phosphatase 1 regulatory subunit 13 like ISO ClinVar Annotator: match by term: Cardio-cutaneous syndrome ClinVar PMID:28069640 NCBI chr19:42,328,814...42,355,088 JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685670 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: LENTIGINOSIS, CARDIOMYOPATHIC | ClinVar Annotator: match by term: MULTIPLE LENTIGINES SYNDROME | ClinVar Annotator: match by term: Multiple lentigines syndrome | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines ClinVar PMID:1635821 PMID:1672296 PMID:2057894 PMID:2564168 PMID:2572450 More... NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines ClinVar PMID:1760348 PMID:10064593 PMID:11447113 PMID:17603482 PMID:17603483 More... NCBI chr 3:12,510,084...12,590,598
Ensembl chr 3:12,853,415...12,932,871 		JBrowse link
Noonan syndrome with multiple lentigines 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: LEOPARD syndrome 1 OMIM
ClinVar		 PMID:1672296 PMID:2057894 PMID:2564168 PMID:2572450 PMID:4746100 More... NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G RPL6 ribosomal protein L6 ISO ClinVar Annotator: match by term: LEOPARD syndrome 1 ClinVar NCBI chr12:110,002,667...110,008,899
Ensembl chr12:113,398,795...113,403,186 		JBrowse link
Noonan syndrome with multiple lentigines 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MKRN2 makorin ring finger protein 2 ISO ClinVar Annotator: match by term: LEOPARD syndrome 2 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:12,481,268...12,510,196
Ensembl chr 3:12,824,341...12,853,520 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: LEOPARD syndrome 2 OMIM
ClinVar		 PMID:1760348 PMID:9536098 PMID:10064593 PMID:10497893 PMID:14701845 More... NCBI chr 3:12,510,084...12,590,598
Ensembl chr 3:12,853,415...12,932,871 		JBrowse link
G TMEM40 transmembrane protein 40 ISO ClinVar Annotator: match by term: LEOPARD syndrome 2 ClinVar NCBI chr 3:12,659,302...12,685,334
Ensembl chr 3:13,003,128...13,018,783 		JBrowse link
Noonan syndrome with multiple lentigines 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: LEOPARD syndrome 3 OMIM
ClinVar		 PMID:2500657 PMID:11313766 PMID:12068308 PMID:12810628 PMID:12960123 More... NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		JBrowse link
Noonan syndrome-like disorder with loose anagen hair term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SHOC2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair ClinVar PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chr10:107,512,795...107,606,627
Ensembl chr10:110,993,556...111,055,312 		JBrowse link
Noonan syndrome-like disorder with loose anagen hair 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SHOC2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 | ClinVar Annotator: match by term: SHOC2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19684605 PMID:20882035 More... NCBI chr10:107,512,795...107,606,627
Ensembl chr10:110,993,556...111,055,312 		JBrowse link
Noonan syndrome-like disorder with loose anagen hair 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPP1CB protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 2 | ClinVar Annotator: match by term: PPP1CB-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 More... NCBI chr2A:28,758,176...28,809,561
Ensembl chr2A:28,862,083...28,889,401 		JBrowse link
Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: CBL SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 More... NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia ClinVar PMID:11992261 PMID:12058348 PMID:12161596 PMID:14634749 PMID:15121796 More... NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
schwannomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LZTR1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Schwannomatosis ClinVar PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More... NCBI chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Neurilemmomatosis congenital cutaneous | ClinVar Annotator: match by term: Schwannomatosis ClinVar PMID:10521299 PMID:18647326 PMID:21208904 PMID:22434358 PMID:25741868 More... NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921 		JBrowse link
schwannomatosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Schwannomatosis 1 ClinVar PMID:7798645 PMID:9399891 PMID:25741868 NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Schwannomatosis 1 | ClinVar Annotator: match by term: Schwannomatosis 1, somatic OMIM
ClinVar		 PMID:10521299 PMID:17357086 PMID:18285426 PMID:18414213 PMID:18647326 More... NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921 		JBrowse link
schwannomatosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LZTR1 leucine zipper like post translational regulator 1 susceptibility ISO ClinVar Annotator: match by term: Schwannomatosis 2 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23917401 PMID:23999291 More... NCBI chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007 		JBrowse link
spinal neurofibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, familial spinal OMIM
ClinVar		 PMID:190611 PMID:1511985 PMID:1568246 PMID:1568247 PMID:1745350 More... NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295 		JBrowse link
vestibular schwannomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP1B1 adaptor related protein complex 1 subunit beta 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,383,036...10,443,655
Ensembl chr22:28,189,831...28,285,007 		JBrowse link
G ASCC2 activating signal cointegrator 1 complex subunit 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,832,102...10,881,987
Ensembl chr22:28,637,041...28,686,003 		JBrowse link
G C23H22orf31 chromosome 23 C22orf31 homolog ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,114,034...10,129,561
Ensembl chr22:27,813,912...27,817,168 		JBrowse link
G CABP7 calcium binding protein 7 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,763,495...10,775,460 JBrowse link
G CCDC117 coiled-coil domain containing 117 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:9,841,876...9,891,088
Ensembl chr22:27,544,719...27,561,144 		JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:9,757,038...9,811,171 JBrowse link
G EMID1 EMI domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,261,598...10,315,182
Ensembl chr22:28,070,033...28,122,186 		JBrowse link
G EWSR1 EWS RNA binding protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,323,622...10,356,039
Ensembl chr22:28,131,109...28,163,134 		JBrowse link
G GAS2L1 growth arrest specific 2 like 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,362,391...10,368,173
Ensembl chr22:28,169,387...28,175,278 		JBrowse link
G HSCB HscB mitochondrial iron-sulfur cluster cochaperone ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:9,811,294...9,826,245
Ensembl chr22:27,512,564...27,527,914 		JBrowse link
G KREMEN1 kringle containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,128,326...10,202,548
Ensembl chr22:27,828,011...28,031,917 		JBrowse link
G LOC100968432 cytochrome b-c1 complex subunit 9 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,810,858...10,813,466
Ensembl chr22:28,615,583...28,618,426 		JBrowse link
G MTMR3 myotubularin related protein 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,925,275...11,072,554
Ensembl chr22:28,818,273...28,872,982 		JBrowse link
G NEFH neurofilament heavy chain ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,525,738...10,536,788 JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 OMIM
ClinVar		 PMID:1479598 PMID:2543905 PMID:4000972 PMID:7535084 PMID:7666400 More... NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013 		JBrowse link
G NIPSNAP1 nipsnap homolog 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,600,285...10,626,474
Ensembl chr22:28,406,638...28,432,897 		JBrowse link
G RASL10A RAS like family 10 member A ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,368,321...10,371,137 JBrowse link
G RFPL1 ret finger protein like 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...
G RHBDD3 rhomboid domain containing 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,315,438...10,323,803
Ensembl chr22:28,123,115...28,131,090 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human) RGD PMID:28365909 RGD:151708708 NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921 		JBrowse link
G THOC5 THO complex subunit 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,553,665...10,599,948
Ensembl chr22:28,357,644...28,404,346 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:19587327 PMID:20406973 RGD:8547955 RGD:8547957 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		JBrowse link
G XBP1 X-box binding protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:9,863,479...9,869,491
Ensembl chr22:27,567,041...27,571,943 		JBrowse link
G ZMAT5 zinc finger matrin-type 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,774,446...10,810,609
Ensembl chr22:28,580,010...28,615,498 		JBrowse link
G ZNRF3 zinc and ring finger 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:9,891,021...10,109,147
Ensembl chr22:27,742,301...27,810,427 		JBrowse link
Watson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Pulmonic stenosis with cafe-au-lait spots OMIM
ClinVar		 PMID:190611 PMID:1302608 PMID:1568246 PMID:1757093 PMID:1783401 More... NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10168
      RASopathy 258
        Costello syndrome 9
        Legius syndrome 4
        Noonan syndrome + 56
        Noonan syndrome with multiple lentigines + 10
        Noonan syndrome-like disorder with loose anagen hair + 2
        Watson syndrome 1
        cardiofaciocutaneous syndrome + 8
        neurofibromatosis + 55
        neurofibromatosis-Noonan syndrome 4
        schwannomatosis + 26
paths to the root