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ONTOLOGY REPORT - ANNOTATIONS


Term:RASopathies
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Accession:DOID:9003333 term browser browse the term
Definition:Neurodevelopmental syndromes caused by germline mutation in genes encoding proteins involved in the RAS/MAPK signaling pathway.
Synonyms:exact_synonym: RASopathy
 primary_id: RDO:9000718
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RASopathies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgef33 Rho guanine nucleotide exchange factor 33 JBrowse link 6 2,982,324 3,100,358 RGD:8554872
G Atl2 atlastin GTPase 2 JBrowse link 6 2,568,975 2,610,432 RGD:8554872
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
G Cbl Cbl proto-oncogene JBrowse link 8 48,481,256 48,564,775 RGD:8554872
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:8554872
G Dhx57 DExH-box helicase 57 JBrowse link 6 2,921,340 2,961,397 RGD:8554872
G Galm galactose mutarotase JBrowse link 6 2,808,988 2,860,742 RGD:8554872
G Gemin6 gem (nuclear organelle) associated protein 6 JBrowse link 6 2,907,040 2,911,577 RGD:8554872
G Hnrnpll heterogeneous nuclear ribonucleoprotein L-like JBrowse link 6 2,698,983 2,729,715 RGD:8554872
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:8554872
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:8554872
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
G Lztr1 leucine-zipper-like transcription regulator 1 JBrowse link 11 87,381,638 87,397,849 RGD:8554872
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 RGD:8554872
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:8554872
G Morn2 MORN repeat containing 2 JBrowse link 6 2,969,290 2,974,419 RGD:8554872
G Mras muscle RAS oncogene homolog JBrowse link 8 107,629,028 107,656,851 RGD:8554872
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 4 147,532,040 147,592,769 RGD:8554872
G Rit1 Ras-like without CAAX 1 JBrowse link 2 188,087,486 188,099,444 RGD:8554872
G Shoc2 SHOC2 leucine-rich repeat scaffold protein JBrowse link 1 274,700,621 274,751,195 RGD:8554872
G Snapc5 small nuclear RNA activating complex, polypeptide 5 JBrowse link 8 69,127,708 69,131,539 RGD:8554872
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 JBrowse link 6 3,105,443 3,182,977 RGD:8554872
G Spred1 sprouty-related, EVH1 domain containing 1 JBrowse link 3 108,795,337 108,861,650 RGD:8554872
G Srsf7 serine and arginine rich splicing factor 7 JBrowse link 6 2,879,312 2,886,505 RGD:8554872

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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          RASopathies 26
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