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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 chr 8:44,611,187...44,629,818
Ensembl chr 8:44,611,187...44,626,881 		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 4:68,348,853...68,362,725
Ensembl chr 4:68,348,864...68,374,608 		JBrowse link
G Agk acylglycerol kinase ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 4:69,114,850...69,193,989
Ensembl chr 4:69,114,269...69,193,934 		JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938 		JBrowse link
G Ap4b1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531 		JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Apoa4 apolipoprotein A4 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583 		JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247 		JBrowse link
G Arhgef12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:43,350,070...43,475,404
Ensembl chr 8:43,353,799...43,476,366 		JBrowse link
G Arhgef33 Rho guanine nucleotide exchange factor 33 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 6:14,582,922...14,715,014
Ensembl chr 6:14,551,495...14,725,292 		JBrowse link
G Atl2 atlastin GTPase 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 6:15,139,071...15,180,421
Ensembl chr 6:15,139,044...15,180,421 		JBrowse link
G Atp5mg ATP synthase membrane subunit G ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:45,225,680...45,233,630
Ensembl chr 8:45,225,686...45,233,559 		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 4:66,760,163...66,842,126
Ensembl chr 4:66,760,159...66,842,110 		JBrowse link
G Bace1 beta-secretase 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876 		JBrowse link
G Bcas2 BCAS2, pre-mRNA processing factor ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 2:190,692,503...190,700,386
Ensembl chr 2:190,692,461...190,700,389 		JBrowse link
G Bcl2l15 Bcl2-like 15 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 2:191,338,959...191,344,078
Ensembl chr 2:191,338,959...191,344,078 		JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611 		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:2851224 PMID:3265306 PMID:8042262 PMID:9536098 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074 		JBrowse link
G C2cd2l C2CD2-like ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,648,074...44,658,856
Ensembl chr 8:44,648,079...44,658,340 		JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267 		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 chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Cd3d CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809 		JBrowse link
G Cd3e CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:45,303,848...45,315,005
Ensembl chr 8:45,303,852...45,315,022 		JBrowse link
G Cd3g CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147 		JBrowse link
G Cdc42ep3 CDC42 effector protein 3 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 6:15,710,894...15,731,366
Ensembl chr 6:15,708,730...15,732,721 		JBrowse link
G Cebpz CCAAT/enhancer binding protein zeta ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 6:16,119,871...16,137,600
Ensembl chr 6:16,119,872...16,137,600 		JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837 		JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:46,070,901...46,134,511
Ensembl chr 8:46,071,076...46,134,336 		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 4:67,392,118...67,414,539
Ensembl chr 4:67,397,873...67,414,537 		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 4:69,407,125...69,416,872
Ensembl chr 4:69,407,835...69,416,859 		JBrowse link
G Csde1 cold shock domain containing E1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 2:190,546,015...190,582,787
Ensembl chr 2:190,554,980...190,582,784 		JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893 		JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917 		JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423 		JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405 		JBrowse link
G Dennd11 DENN domain containing 11 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 4:69,197,161...69,266,013
Ensembl chr 4:69,198,068...69,228,821 		JBrowse link
G Dennd2a DENN domain containing 2A ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 4:68,233,016...68,332,235
Ensembl chr 4:68,233,958...68,332,105 		JBrowse link
G Dennd2c DENN domain containing 2C ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 2:190,622,357...190,690,489
Ensembl chr 2:190,622,940...190,690,488 		JBrowse link
G Dhx57 DExH-box helicase 57 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 6:14,725,305...14,776,321
Ensembl chr 6:14,725,303...14,776,321 		JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087 		JBrowse link
G Drc12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:44,577,836...44,584,338 		JBrowse link
G Dscaml1 DS cell adhesion molecule-like 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:45,740,298...46,057,322
Ensembl chr 8:45,740,298...46,057,320 		JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971 		JBrowse link
G Fmc1 formation of mitochondrial complex V assembly factor 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 4:67,274,104...67,282,140
Ensembl chr 4:67,274,104...67,282,140 		JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880 		JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:45,712,901...45,720,032
Ensembl chr 8:45,712,903...45,720,203 		JBrowse link
G Fxyd6 FXYD domain-containing ion transport regulator 6 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:45,679,054...45,705,958
Ensembl chr 8:45,678,885...45,705,958 		JBrowse link
G Galm galactose mutarotase ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310 		JBrowse link
G Gemin6 gem (nuclear organelle) associated protein 6 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 6:14,786,090...14,790,617
Ensembl chr 6:14,786,070...14,790,612 		JBrowse link
G Grik4 glutamate ionotropic receptor kainate type subunit 4 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:42,903,043...43,331,990
Ensembl chr 8:42,905,056...43,193,751 		JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239 		JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,634,333...44,644,288
Ensembl chr 8:44,634,333...44,641,000 		JBrowse link
G Hipk1 homeodomain interacting protein kinase 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 2:191,248,817...191,299,787
Ensembl chr 2:191,248,817...191,298,902 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957 		JBrowse link
G Hnrnpll heterogeneous nuclear ribonucleoprotein L-like ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 6:14,969,953...15,000,574
Ensembl chr 6:14,970,057...14,999,745 		JBrowse link
G Hras HRas proto-oncogene, GTPase 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 chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186 		JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052 		JBrowse link
G Ift56 intraflagellar transport 56 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 4:67,090,622...67,154,707
Ensembl chr 4:67,090,660...67,147,903 		JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061 		JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565 		JBrowse link
G Kdm7a lysine demethylase 7A ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 4:67,899,407...67,974,264
Ensembl chr 4:67,904,307...67,966,998 		JBrowse link
G Kiaa1549 KIAA1549 homolog ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 4:66,840,674...66,968,407
Ensembl chr 4:66,760,162...66,968,436 		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 4:67,360,216...67,374,867
Ensembl chr 4:67,363,919...67,374,147 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181 		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 chr 4:178,185,418...178,218,484 JBrowse link
G Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 2:191,947,322...192,012,996
Ensembl chr 2:191,949,819...192,012,579 		JBrowse link
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 chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		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 4:67,287,593...67,347,986
Ensembl chr 4:67,287,640...67,347,964 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:16356934 PMID:24362817 PMID:25303977 PMID:25741868 PMID:25795793 More... NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		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 2:191,514,726...191,717,048
Ensembl chr 2:191,518,506...191,716,735 		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 chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147 		JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: RASopathy
ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies		 ClinVar PMID:9536098 PMID:15175348 PMID:16199547 PMID:16439621 PMID:17366577 More... NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859 		JBrowse link
G Mgam maltase-glucoamylase ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 4:69,441,626...69,602,068
Ensembl chr 4:69,446,150...69,692,715 		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 4:68,175,908...68,197,216
Ensembl chr 4:68,175,909...68,197,165 		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 4:148,661,529...148,679,580
Ensembl chr 4:148,661,553...148,679,642 		JBrowse link
G Morn2 MORN repeat containing 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 6:14,718,799...14,725,281 JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298 		JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662 		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 8:99,944,036...100,006,771
Ensembl chr 8:99,944,036...99,996,408 		JBrowse link
G Mrps33 mitochondrial ribosomal protein S33 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 4:68,596,729...68,605,547
Ensembl chr 4:68,596,729...68,605,428 		JBrowse link
G Ndufaf7 NADH:ubiquinone oxidoreductase complex assembly factor 7 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 6:16,108,630...16,119,810
Ensembl chr 6:16,103,003...16,119,810 		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 4:68,367,526...68,374,609
Ensembl chr15:46,536,062...46,536,851
Ensembl chr 4:46,536,062...46,536,851 		JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787 		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 chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Ngf nerve growth factor ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:44,584,390...44,588,860 		JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484 		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 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Oaf out at first homolog ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:43,594,362...43,612,334
Ensembl chr 8:43,594,363...43,612,334 		JBrowse link
G Olfml3 olfactomedin-like 3 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 2:191,244,221...191,247,050
Ensembl chr 2:191,244,221...191,247,050 		JBrowse link
G Or9a4 olfactory receptor family 9 subfamily A member 4 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 4:69,401,606...69,402,550
Ensembl chr 4:69,399,601...69,404,723 		JBrowse link
G Pafah1b2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:46,260,069...46,312,073
Ensembl chr 8:46,261,064...46,279,833 		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 4:67,826,548...67,885,356
Ensembl chr 4:67,839,237...67,883,685 		JBrowse link
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705 		JBrowse link
G Phldb1 pleckstrin homology-like domain, family B, member 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:45,003,543...45,051,541
Ensembl chr 8:45,003,538...45,051,522 		JBrowse link
G Phtf1 putative homeodomain transcription factor 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 2:191,470,849...191,537,399
Ensembl chr 2:191,473,130...191,512,078 		JBrowse link
G Pou2f3 POU class 2 homeobox 3 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:43,495,408...43,577,795
Ensembl chr 8:43,495,527...43,577,795 		JBrowse link
G Prkd3 protein kinase D3 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 6:16,032,507...16,108,444
Ensembl chr 6:16,032,585...16,108,443 		JBrowse link
G Prss37 serine protease 37 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 4:69,322,977...69,334,555
Ensembl chr 4:69,322,977...69,334,555 		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 chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
G Qpct glutaminyl-peptide cyclotransferase ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 6:15,964,656...15,996,730
Ensembl chr 6:15,964,657...15,996,711 		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 4:68,157,159...68,166,889
Ensembl chr 4:68,156,881...68,166,886 		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 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO DNA:missense mutation:exon:multiple 9human)
ClinVar Annotator: match by term: RASopathy
ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies		 ClinVar
RGD		 PMID:2439608 PMID:7109146 PMID:8462668 PMID:23791108 PMID:24033266 More... RGD:11086309 NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455 		JBrowse link
G Rmdn2 regulator of microtubule dynamics 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 6:15,372,569...15,443,000
Ensembl chr 6:15,375,496...15,441,480 		JBrowse link
G Rnf214 ring finger protein 214 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:46,166,269...46,202,048
Ensembl chr 8:46,166,598...46,201,576 		JBrowse link
G Rnf26 ring finger protein 26 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:44,454,551...44,456,745
Ensembl chr 8:44,454,292...44,457,331 		JBrowse link
G Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr12:35,347,493...35,352,011
Ensembl chr12:35,347,497...35,351,921 		JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271 		JBrowse link
G Rreb1 ras responsive element binding protein 1 ISS MouseDO NCBI chr17:26,876,687...27,002,554
Ensembl chr17:26,876,697...27,002,615 		JBrowse link
G Rsbn1 round spermatid basic protein 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 2:191,416,631...191,470,711
Ensembl chr 2:191,416,631...191,470,711 		JBrowse link
G Sc5d sterol-C5-desaturase ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273 		JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765 		JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292 		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 chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337 		JBrowse link
G Sidt2 SID1 transmembrane family, member 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:46,232,379...46,248,913
Ensembl chr 8:46,232,383...46,248,700 		JBrowse link
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:46,312,253...46,522,444
Ensembl chr 8:46,311,989...46,522,444 		JBrowse link
G Sike1 suppressor of IKBKE 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 2:190,518,002...190,525,833
Ensembl chr 2:190,518,002...190,525,832 		JBrowse link
G Slc16a1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611 		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 4:68,109,314...68,153,590
Ensembl chr 4:68,081,939...68,153,568 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
G Snapc5 small nuclear RNA activating complex, polypeptide 5 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:64,677,204...64,680,769
Ensembl chr 8:64,677,205...64,681,964 		JBrowse link
G Sorl1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513 		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:1995362 PMID:9030684 PMID:9536098 PMID:10675333 More... NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		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 chr 6:88,042,966...88,156,140
Ensembl chr 6:88,042,966...88,156,692 		JBrowse link
G Srsf7 serine and arginine rich splicing factor 7 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 6:14,811,775...14,818,968
Ensembl chr 6:14,811,808...14,818,965 		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 4:69,266,024...69,276,135
Ensembl chr 4:69,266,102...69,276,135 		JBrowse link
G Sult6b1 sulfotransferase family 6B member 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 6:16,162,382...16,187,116
Ensembl chr 6:16,162,150...16,187,116 		JBrowse link
G Sycp1 synaptonemal complex protein 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 2:190,296,688...190,456,687
Ensembl chr 2:190,296,954...190,456,737 		JBrowse link
G Syt6 synaptotagmin 6 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 2:191,093,009...191,152,283
Ensembl chr 2:191,093,007...191,149,956 		JBrowse link
G Tagln transgelin ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668 		JBrowse link
G Tas2r108 taste receptor, type 2, member 108 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 4:69,287,667...69,288,581
Ensembl chr 4:69,287,667...69,288,581 		JBrowse link
G Tas2r137 taste receptor, type 2, member 137 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 4:69,279,276...69,286,935
Ensembl chr 4:69,284,391...69,285,341 		JBrowse link
G Tas2r138 taste receptor, type 2, member 138 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 4:69,428,344...69,429,339
Ensembl chr 4:69,428,344...69,429,339 		JBrowse link
G Tbcel tubulin folding cofactor E-like ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:42,795,648...42,854,552
Ensembl chr 8:42,796,730...42,854,552 		JBrowse link
G Tbxas1 thromboxane A synthase 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096 		JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707 		JBrowse link
G Thy1 Thy-1 cell surface antigen ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:44,389,495...44,394,688
Ensembl chr 8:44,389,513...44,394,659 		JBrowse link
G Tlcd5 TLC domain containing 5 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:43,481,388...43,486,288
Ensembl chr 8:43,479,016...43,486,290 		JBrowse link
G Tmem178b transmembrane protein 178B ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 4:68,659,425...69,035,690
Ensembl chr 4:68,657,343...69,035,690 		JBrowse link
G Tmem213 transmembrane protein 213 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 4:66,825,040...66,831,070 JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389 		JBrowse link
G Tmem40 transmembrane protein 40 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 4:148,791,509...148,819,287
Ensembl chr 4:148,791,505...148,823,665 		JBrowse link
G Tmprss13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:45,625,759...45,653,943
Ensembl chr 8:45,625,626...45,653,938 		JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409 		JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491 		JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540 		JBrowse link
G Trim29 tripartite motif-containing 29 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:43,682,221...43,706,992
Ensembl chr 8:43,682,221...43,706,992 		JBrowse link
G Trim33 tripartite motif-containing 33 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 2:190,812,329...190,892,663
Ensembl chr 2:190,807,243...190,888,814 		JBrowse link
G Tsen2 tRNA splicing endonuclease subunit 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 4:148,602,805...148,638,219
Ensembl chr 4:148,602,863...148,638,215 		JBrowse link
G Tshb thyroid stimulating hormone subunit beta ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559 		JBrowse link
G Tspan2 tetraspanin 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 2:190,177,717...190,234,994
Ensembl chr 2:190,177,741...190,219,660 		JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:45,112,737...45,116,345 JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038 		JBrowse link
G Ubn2 ubinuclein 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:12414817 PMID:16611712 PMID:28492532 NCBI chr 4:67,165,278...67,251,562
Ensembl chr 4:67,166,346...67,230,491 		JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190 		JBrowse link
G Usp2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:44,411,457...44,439,668
Ensembl chr 8:44,411,607...44,438,331 		JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619 		JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: RASopathy ClinVar PMID:28492532 NCBI chr 8:44,684,129...44,698,568
Ensembl chr 8:44,684,127...44,698,568 		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 4:69,239,043...69,261,576
Ensembl chr 4:69,239,299...69,261,093 		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 4:67,012,129...67,062,428
Ensembl chr 4:67,012,185...67,062,428 		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 4:66,994,192...67,003,207
Ensembl chr 4:66,994,199...67,001,620 		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
ISS		 DNA:mutations:cds:multiple(human)
ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
DNA:mutation:cds:p.Q241R(mouse)
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:3265306 PMID:4386970 PMID:5771505 PMID:8042262 PMID:11313766 More... RGD:1600471, RGD:11352608, RGD:11567236 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO DNA:missense mutations:CDS:p.G60R, p.D153V (human)
ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:8234268 PMID:16474404 PMID:16474405 PMID:16773572 PMID:16987887 More... RGD:1600471 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome		 CTD
ClinVar
MouseDO		 PMID:1804226 PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 More... NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147 		JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome		 CTD
ClinVar		 PMID:16439621 PMID:17703371 PMID:17981815 PMID:18039235 PMID:18042262 More... NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CFC syndrome		 CTD
ClinVar		 PMID:17703371 PMID:25741868 PMID:28492532 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome ClinVar PMID:28492532 NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455 		JBrowse link
G Snapc5 small nuclear RNA activating complex, polypeptide 5 ISO ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar NCBI chr 8:64,677,204...64,680,769
Ensembl chr 8:64,677,205...64,681,964 		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:2851224 PMID:3265306 PMID:4386970 PMID:5771505 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		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 chr 4:178,185,418...178,218,484 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 chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		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 chr 4:178,185,418...178,218,484 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 chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147 		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
DNA:missense mutation:CDS:p.P128Q (human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:16439621 PMID:17366577 PMID:17576681 PMID:17981815 More... RGD:155791562 NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome		 CTD
ClinVar		 PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr10:65,170,560...65,189,791
Ensembl chr10:65,170,560...65,262,804 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Costello syndrome		 CTD
ClinVar		 PMID:17703371 PMID:28492532 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO
ISS		 ClinVar Annotator: match by term: Costello syndrome | ClinVar Annotator: match by term: FCS syndrome
OMIM:218040
DNA:missense mutation:C.34G>A(p.G12S)(human)
DNA:missense mutation:cds:c.179G>A( p.G60D)(human)
CTD Direct Evidence: marker/mechanism
DNA:snps:missense mutations:cds:multiple (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1362901 PMID:2105486 PMID:2674130 PMID:2999610 PMID:3004741 More... RGD:11070051, RGD:11085804, RGD:10412308 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17468812 PMID:17703371 NCBI chr 4:178,185,418...178,218,484 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 chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147 		JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:28492532 NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718 		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 chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		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 chr 3:104,134,803...104,164,249
Ensembl chr 3:104,134,824...104,163,704 		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 chr 3:104,168,549...104,230,107
Ensembl chr 3:104,170,013...104,230,056 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2275304 PMID:9536098 PMID:15683364 PMID:16199547 PMID:17576681 More... NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718 		JBrowse link
neurofibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurofibromatosis | ClinVar Annotator: match by term: Neurofibromatosis type 6		 CTD
ClinVar		 PMID:9150739 PMID:9180088 PMID:10678181 PMID:10712197 PMID:14722917 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		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 chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718 		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 chr10:62,363,209...62,368,600
Ensembl chr10:62,363,209...62,368,600 		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 chr10:65,138,006...65,166,147
Ensembl chr10:65,138,020...65,165,604 		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 chr10:62,319,660...62,338,342
Ensembl chr10:62,319,647...62,340,253 		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 chr10:65,070,682...65,118,489
Ensembl chr10:65,070,689...65,117,845 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:blood RGD PMID:22120694 RGD:6483542 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Blmh bleomycin hydrolase ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr10:61,772,112...61,815,212
Ensembl chr10:61,758,478...61,815,212 		JBrowse link
G Coro6 coronin 6 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr10:62,311,552...62,319,659
Ensembl chr10:62,311,660...62,319,659 		JBrowse link
G Cpd carboxypeptidase D ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr10:61,623,528...61,687,491
Ensembl chr10:61,623,526...61,687,491 		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 chr10:65,024,228...65,060,746
Ensembl chr10:65,023,388...65,060,670 		JBrowse link
G Cryba1 crystallin, beta A1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726 		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 chr10:61,926,419...62,042,745
Ensembl chr10:61,926,953...62,042,749 		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 chr10:64,485,760...64,489,660
Ensembl chr10:64,485,200...64,489,843 		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 chr10:64,472,693...64,474,311
Ensembl chr10:64,471,505...64,481,560 		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 chr20:1,464,534...1,494,114
Ensembl chr20:1,464,534...1,493,994 		JBrowse link
G Git1 GIT ArfGAP 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr10:62,342,082...62,356,379
Ensembl chr10:62,342,299...62,356,373 		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 chr10:61,570,499...61,607,287
Ensembl chr10:61,450,494...61,607,177
Ensembl chr10:61,450,494...61,607,177 		JBrowse link
G Nf1 neurofibromin 1 ISO
ISS		 ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis
ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Von Recklinghausen disease
OMIM:162200
DNA:multiple:multiple (human)
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:190611 PMID:1071297 PMID:1302608 PMID:1370276 PMID:1483690 More... RGD:1302540, RGD:151708706, RGD:1580933 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667 		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 chr10:61,880,807...61,914,471
Ensembl chr10:61,880,825...61,914,471 		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 chr10:62,574,922...62,607,729
Ensembl chr10:62,574,882...62,600,346 		JBrowse link
G Omg oligodendrocyte-myelin glycoprotein ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:1568247 PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 More... NCBI chr10:64,461,350...64,464,084
Ensembl chr10:64,461,350...64,464,084 		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 chr10:65,170,560...65,189,791
Ensembl chr10:65,170,560...65,262,804 		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 chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384 		JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17704776 NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718 		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 chr10:62,057,400...62,309,328
Ensembl chr10:62,057,044...62,306,563 		JBrowse link
G Taok1 TAO kinase 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr10:62,373,072...62,465,295
Ensembl chr10:62,381,404...62,465,766 		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 chr10:65,119,657...65,124,233
Ensembl chr10:65,119,659...65,124,486 		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 chr10:61,739,071...61,751,025
Ensembl chr10:61,736,462...61,751,025 		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 chr10:62,356,722...62,363,122
Ensembl chr10:62,356,722...62,361,343 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA,protein:increased expression:dermis RGD PMID:12930297 RGD:8547970 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		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 chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis with Noonan phenotype | ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:190611 PMID:1568246 PMID:1757093 PMID:1783401 PMID:2114220 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		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 chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		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 chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718 		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 SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS | ClinVar Annotator: match by term: Noonan-like syndrome ClinVar PMID:19620960 PMID:20951944 PMID:24033266 PMID:25741868 PMID:27069254 More... NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Cdc42 cell division cycle 42 ISO ClinVar Annotator: match by term: Noonan-like syndrome ClinVar PMID:25741868 PMID:29394990 NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111 		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 chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		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:1995362 PMID:9030684 PMID:9536098 PMID:10675333 More... NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		JBrowse link
Noonan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apaf1 apoptotic peptidase activating factor 1 ISS MouseDO NCBI chr 7:25,494,143...25,579,540
Ensembl chr 7:25,494,609...25,579,540 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism
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		 CTD
ClinVar		 PMID:2500657 PMID:2851224 PMID:3265306 PMID:11313766 PMID:12068308 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		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 Annotator: match by term: Noonan's syndrome ClinVar PMID:16199547 PMID:18698078 PMID:19571318 PMID:19620960 PMID:20543203 More... NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Dmpk DM1 protein kinase ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar NCBI chr 1:78,730,255...78,740,585
Ensembl chr 1:78,730,275...78,740,593 		JBrowse link
G Epha2 Eph receptor A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22845314 NCBI chr 5:153,605,644...153,634,115
Ensembl chr 5:153,605,644...153,634,117 		JBrowse link
G F11 coagulation factor XI ISO protein:decreased expression:plasma: RGD PMID:3354599 RGD:11041743 NCBI chr16:46,987,988...47,009,015
Ensembl chr16:46,986,107...47,008,437 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome		 CTD
ClinVar		 PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO protein:decreased expression:serum (mouse) RGD PMID:22371576 PMID:16263833 RGD:11352540, RGD:11063837 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO RGD PMID:16263833 RGD:11063837 NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO
ISS		 MouseDO
RGD		 PMID:21804188 RGD:9590337 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO Noonan syndrome type 3, OMIM:609942
DNA:missense mutation:exon:p.V14I (mouse)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome		 CTD
ClinVar
RGD		 PMID:8234268 PMID:8246952 PMID:10590419 PMID:10681080 PMID:12110640 More... RGD:1600472, RGD:11060134 NCBI chr 4:178,185,418...178,218,484 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 chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		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
DNA:missense mutation:cds:c.742G>A (p.G248R), c.360C>A (p.H120Q), c.2245T>C (p.Y749H) (human)
DNA:missense mutations:cds:R210X, c.2220-17C-A (human)		 ClinVar
RGD		 PMID:16356934 PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 More... RGD:151667909, RGD:151708718, RGD:151667911 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome		 CTD
ClinVar		 PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 PMID:17366577 More... NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147 		JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome		 CTD
ClinVar		 PMID:17703371 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18413255 More... NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome		 CTD
ClinVar		 PMID:2674680 PMID:8120410 PMID:10598665 PMID:12460918 PMID:14982869 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased activity:blood: RGD PMID:20686427 RGD:13207331 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Plg plasminogen ISO protein:decreased activity:blood: RGD PMID:20686427 RGD:13207331 NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786 		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 chr 6:23,958,813...23,992,841
Ensembl chr 6:23,960,998...23,992,824 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1635821 PMID:1672296 PMID:2057894 PMID:2564168 PMID:2572450 More... RGD:1581292, RGD:11352540 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome
DNA:point mutation:exon:p.L613V (mouse)
DNA:missense mutations:exon:multiple
DNA:missense mutations: exon:multiple		 CTD
ClinVar
RGD		 PMID:1760348 PMID:10064593 PMID:11447113 PMID:11933072 PMID:12077328 More... RGD:12910711, RGD:11063621, RGD:11064431, RGD:11064112 NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		JBrowse link
G Rasa2 RAS p21 protein activator 2 ISO DNA:missense mutations:exon:multiple (human) RGD PMID:25049390 RGD:11096563 NCBI chr 8:97,119,983...97,236,687
Ensembl chr 8:97,118,802...97,236,671 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO DNA:missense mutations:exon:multiple (human)
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome
DNA:missense mutation:exon:multiple 9human)		 ClinVar
RGD		 PMID:2439608 PMID:2657980 PMID:7109146 PMID:8462668 PMID:23791108 More... RGD:11096563, RGD:11086309, RGD:151667911, RGD:155631269, RGD:11097409 NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455 		JBrowse link
G Rras RAS related ISO 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 chr 1:95,500,582...95,504,362
Ensembl chr 1:95,500,566...95,504,357 		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 chr 1:168,233,693...168,303,111
Ensembl chr 1:168,233,693...168,303,111 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:decreased activity:blood: RGD PMID:20686427 RGD:13207331 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome		 CTD
ClinVar		 PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337 		JBrowse link
G Snapc5 small nuclear RNA activating complex, polypeptide 5 ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:28492532 NCBI chr 8:64,677,204...64,680,769
Ensembl chr 8:64,677,205...64,681,964 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome
DNA:missense mutation:exon:p.R497Q (human)		 CTD
ClinVar
RGD		 PMID:1758637 PMID:1995362 PMID:11333268 PMID:16267129 PMID:17143282 More... RGD:11067112 NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		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 chr 6:88,042,966...88,156,140
Ensembl chr 6:88,042,966...88,156,692 		JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:28492532 NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718 		JBrowse link
G Spred2 sprouty-related, EVH1 domain containing 2 ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:25741868 PMID:34626534 NCBI chr14:94,149,210...94,250,787
Ensembl chr14:94,148,837...94,249,162 		JBrowse link
Noonan 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: Noonan syndrome 1 ClinVar PMID:2851224 PMID:11313766 PMID:12068308 PMID:12460918 PMID:12460919 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		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 chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:30311386 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		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 chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		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 chr 4:178,185,418...178,218,484 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 chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		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 chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		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 chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147 		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 chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		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 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO
ISS		 ClinVar Annotator: match by term: Noonan syndrome 1
OMIM:163950		 OMIM
ClinVar
MouseDO		 PMID:1635821 PMID:1672296 PMID:2057894 PMID:2564168 PMID:2572450 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		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 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		JBrowse link
G Rasa2 RAS p21 protein activator 2 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar NCBI chr 8:97,119,983...97,236,687
Ensembl chr 8:97,118,802...97,236,671 		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 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455 		JBrowse link
G Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar NCBI chr12:35,347,493...35,352,011
Ensembl chr12:35,347,497...35,351,921 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:1995362 PMID:17143282 PMID:17143285 PMID:17586837 PMID:18456719 More... NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		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 chr 6:88,042,966...88,156,140
Ensembl chr 6:88,042,966...88,156,692 		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 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LZTR1-Related Disorder | ClinVar Annotator: match by term: Noonan syndrome 10
OMIM:616564		 CTD
ClinVar
OMIM
MouseDO		 PMID:9536098 PMID:16199547 PMID:16356934 PMID:17576681 PMID:18948947 More... NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		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 8:99,944,036...100,006,771
Ensembl chr 8:99,944,036...99,996,408 		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 chr 1:168,233,693...168,303,111
Ensembl chr 1:168,233,693...168,303,111 		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 chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616 		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 chr14:94,149,210...94,250,787
Ensembl chr14:94,148,837...94,249,162 		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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Noonan syndrome 2 | ClinVar Annotator: match by term: Noonan syndrome autosomal recessive		 CTD
ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24362817 PMID:25335493 More... NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		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 chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO
ISS		 OMIM:609942
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Noonan syndrome 3		 OMIM
MouseDO
CTD
ClinVar		 PMID:8246952 PMID:10590419 PMID:10681080 PMID:12110640 PMID:14982869 More... NCBI chr 4:178,185,418...178,218,484 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 chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		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 chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		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 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		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 chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337 		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 chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		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
ISS		 ClinVar Annotator: match by term: Noonan syndrome 4 | ClinVar Annotator: match by term: SOS1-related condition
OMIM:610733
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:CDS:p.E846K (mouse)
DNA:missense mutations:exon:multiple		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1758637 PMID:1995362 PMID:9030684 PMID:9536098 PMID:10675333 More... RGD:11064696, RGD:11063026, RGD:11063543, RGD:11063178 NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		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 4:148,661,529...148,679,580
Ensembl chr 4:148,661,553...148,679,642 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO
ISS		 ClinVar Annotator: match by term: Noonan syndrome 5
OMIM:611553
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1760348 PMID:9536098 PMID:10064593 PMID:10497893 PMID:14701845 More... NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2851224 PMID:11313766 PMID:12068308 PMID:12460918 PMID:12460919 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		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 2:174,061,126...174,118,355
Ensembl chr 2:174,062,976...174,118,355 		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 2:174,319,341...174,347,489
Ensembl chr 2:174,318,983...174,346,461 		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 2:174,233,461...174,306,636
Ensembl chr 2:174,233,461...174,306,634 		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 2:174,149,059...174,177,816
Ensembl chr 2:174,149,141...174,177,504 		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 2:174,008,556...174,011,950
Ensembl chr 2:174,008,548...174,013,013 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		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 2:173,990,098...173,999,567
Ensembl chr 2:173,989,856...173,997,377 		JBrowse link
G Msto1 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 2:174,305,945...174,310,230
Ensembl chr 2:174,301,861...174,310,216 		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 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Rab25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 2:174,000,323...174,006,422
Ensembl chr 2:174,000,323...174,006,422 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO
ISS		 ClinVar Annotator: match by term: Noonan syndrome 8 | ClinVar Annotator: match by term: RIT1-related condition
OMIM:615355
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2439608 PMID:2657980 PMID:7109146 PMID:8462668 PMID:9536098 More... NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455 		JBrowse link
G Rxfp4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 2:174,123,510...174,124,664 JBrowse link
G Ssr2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 2:174,048,291...174,057,043
Ensembl chr 2:174,048,460...174,057,042 		JBrowse link
G Syt11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 PMID:30684668 PMID:31463572 NCBI chr 2:174,206,032...174,232,540
Ensembl chr 2:174,206,191...174,231,964 		JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 2:174,012,726...174,028,062
Ensembl chr 2:174,012,777...174,028,059 		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 chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17143282 PMID:17143285 PMID:17576681 More... NCBI chr 6:88,042,966...88,156,140
Ensembl chr 6:88,042,966...88,156,692 		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 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Epha2 Eph receptor A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22845314 NCBI chr 5:153,605,644...153,634,115
Ensembl chr 5:153,605,644...153,634,117 		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 chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		JBrowse link
G Ppp1r13l protein phosphatase 1, regulatory subunit 13 like ISO ClinVar Annotator: match by term: Cardio-cutaneous syndrome ClinVar PMID:28069640 NCBI chr 1:79,010,997...79,030,714
Ensembl chr 1:79,011,745...79,030,712 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685670 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO
ISS		 CTD Direct Evidence: marker/mechanism
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		 CTD
ClinVar
MouseDO
RGD		 PMID:1635821 PMID:1672296 PMID:2057894 PMID:2564168 PMID:2572450 More... RGD:11070277 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines		 CTD
ClinVar		 PMID:1760348 PMID:10064593 PMID:11447113 PMID:17603482 PMID:17603483 More... NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		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 DNA:missense mutations:exons:p.Y279C, p.T468M (human)
ClinVar Annotator: match by term: LEOPARD syndrome 1
DNA:missense mutations:cds:multiple (human)
DNA:missense mutations:cds:p.Y279S, p.Q510P (human)		 ClinVar
OMIM
RGD		 PMID:1672296 PMID:2057894 PMID:2564168 PMID:2572450 PMID:4746100 More... RGD:1601571, RGD:11062587, RGD:11062391 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: LEOPARD syndrome 1 ClinVar NCBI chr12:35,347,493...35,352,011
Ensembl chr12:35,347,497...35,351,921 		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 4:148,661,529...148,679,580
Ensembl chr 4:148,661,553...148,679,642 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: LEOPARD syndrome 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1760348 PMID:9536098 PMID:10064593 PMID:10497893 PMID:14701845 More... NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		JBrowse link
G Tmem40 transmembrane protein 40 ISO ClinVar Annotator: match by term: LEOPARD syndrome 2 ClinVar NCBI chr 4:148,791,509...148,819,287
Ensembl chr 4:148,791,505...148,823,665 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11313766 PMID:12068308 PMID:12810628 PMID:12960123 PMID:14749708 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		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 chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337 		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
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:multiple (human)
Noonan syndrome-like disorder with loose anagen hair 1;
DNA:mutation:cds:c.4A>G (p.S2G)(human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19684605 PMID:20882035 More... RGD:155804265, RGD:11071098, RGD:11071178 NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337 		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 chr 6:23,958,813...23,992,841
Ensembl chr 6:23,960,998...23,992,824 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 More... NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		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 chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Schwannomatosis
DNA, protein:multiple, multiple:multiple, blood (human)
DNA:multiple:multiple (human)		 CTD
ClinVar
RGD		 PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More... RGD:151708709, RGD:151708708, RGD:151708704 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurilemmomatosis congenital cutaneous | ClinVar Annotator: match by term: Schwannomatosis
DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human)
DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human)
DNA:multiple:multiple (human)		 CTD
ClinVar
RGD		 PMID:10521299 PMID:18647326 PMID:21208904 PMID:22434358 PMID:24362817 More... RGD:155804288, RGD:151708708, RGD:151708704 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		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 chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667 		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 ClinVar
OMIM		 PMID:10521299 PMID:17357086 PMID:18285426 PMID:18414213 PMID:18647326 More... NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		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 ISO ClinVar Annotator: match by term: Schwannomatosis 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23917401 PMID:23999291 More... NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:190611 PMID:1511985 PMID:1568246 PMID:1568247 PMID:1745350 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		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 chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778 		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 chr14:79,503,449...79,547,801
Ensembl chr14:79,503,517...79,545,494 		JBrowse link
G C14H22orf31 chromosome 14 C22orf31 homolog ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...
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 chr14:79,598,822...79,609,172
Ensembl chr14:79,598,827...79,609,240 		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 chr14:80,399,236...80,409,824
Ensembl chr14:80,400,294...80,409,659 		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 chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286 		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 chr14:80,000,486...80,043,561
Ensembl chr14:80,000,486...80,043,620 		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 chr14:79,965,365...79,994,108
Ensembl chr14:79,965,368...79,994,544 		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 chr14:79,955,350...79,961,830
Ensembl chr14:79,950,555...79,961,438 		JBrowse link
G Hscb HscB mitochondrial iron-sulfur cluster co-chaperone ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr12:45,821,527...45,831,902
Ensembl chr12:45,821,555...45,831,909 		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 chr14:80,081,870...80,147,489
Ensembl chr14:80,084,403...80,147,516 		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 chr14:79,340,523...79,460,947
Ensembl chr14:79,340,513...79,461,041 		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 chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351 		JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO
ISS		 ClinVar Annotator: match by term: Bilateral vestibular schwannoma | ClinVar Annotator: match by term: Neurofibromatosis, type 2
OMIM:101000
DNA:multiple:multiple (human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1479598 PMID:2543905 PMID:3313277 PMID:4000972 PMID:7535084 More... RGD:151708708, RGD:151708704 NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667 		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 chr14:79,734,234...79,758,101
Ensembl chr14:79,734,209...79,758,098 		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 chr14:79,955,093...79,956,471
Ensembl chr14:79,954,398...79,956,468 		JBrowse link
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 chr14:79,994,111...80,000,294
Ensembl chr14:79,994,158...80,000,175 		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 chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		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 chr14:79,758,805...79,792,718
Ensembl chr14:79,758,917...79,792,718 		JBrowse link
G Uqcr10 ubiquinol-cytochrome c reductase, complex III subunit X ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,566,151...79,569,017
Ensembl chr14:79,566,157...79,569,003 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:20406973 PMID:19587327 RGD:8547955, RGD:8547957 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		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 chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693 		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 chr14:79,568,644...79,599,595
Ensembl chr14:79,568,758...79,599,594 		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 chr14:80,157,854...80,313,456
Ensembl chr14:80,160,278...80,313,485 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:190611 PMID:1302608 PMID:1568246 PMID:1757093 PMID:1783401 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      RASopathy 257
        Costello syndrome 9
        Legius syndrome 3
        Noonan syndrome + 54
        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 + 25
paths to the root