ONTOLOGY REPORT - ANNOTATIONS


Term:RASopathies
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          RASopathies 26
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.