Noonan syndrome and clinically related disorders

Schematic diagram showing the RAS-MAPK cascade and affected disease genes in disorders of the neuro-cardio-facial-cutaneous syndrome family. The double ovals in dark grey and the light grey ovals represent generic dimerized cell-surface receptors binding to their ligand. Abbreviations: CFCS, cardiofaciocutaneous syndrome; CS: Costello syndrome; LS, LEOPARD syndrome; NF1, neurofibromatosis type 1; NFLS, Neurofibromatosis type 1-like syndrome (also termed Legius syndrome); NFNS, neurofibromatosis-Noonan syndrome; NS, Noonan syndrome; NS/LAH, Noonan-like syndrome with loose anagen hair.
Noonan syndrome and clinically related disorders
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Publication

Noonan syndrome and clinically related disorders. () Marco Tartaglia, et al. Best Pract Res Clin Endocrinol Metab. ;25(1):161-179. Figure: F6.

Gene mentions


Organism Group Word Match Source NCBI Symbol NCBI ID
Panthera pardus Mammals HRAS: HRAS ncbigene_symbol HRAS 109259759
Panthera pardus Mammals CS CS ncbigene_symbol CS 109270331
Panthera pardus Mammals KRAS: KRAS ncbigene_symbol KRAS 109268745
Panthera pardus Mammals NRAS: NRAS ncbigene_symbol NRAS 109272105
Panthera pardus Mammals GRB2 GRB2 ncbigene_symbol GRB2 109276940
Panthera pardus Mammals CBL CBL ncbigene_symbol CBL 109278523
Panthera pardus Mammals SOS1: SOS1 ncbigene_symbol SOS1 109265500
Panthera pardus Mammals NF1: NF1 ncbigene_symbol NF1 109251797
Panthera pardus Mammals PTPN11: PTPN11 ncbigene_symbol PTPN11 109277629
Panthera pardus Mammals PTPN11:NS,LSs LSS ncbigene_symbol LSS 109258102
Panthera pardus Mammals RAF1: RAF1 ncbigene_symbol RAF1 109257492
Panthera pardus Mammals BRAF: BRAF ncbigene_symbol BRAF 109269114
Panthera pardus Mammals SHOC2 SHOC2 ncbigene_symbol SHOC2 109272894
Panthera pardus Mammals SPRED1 SPRED1 ncbigene_symbol SPRED1 109263185
Homo sapiens Primates HRAS: HRAS ncbigene_symbol HRAS 3265
Homo sapiens Primates CS CS ncbigene_symbol CS 1431
Homo sapiens Primates KRAS: KRAS ncbigene_symbol KRAS 3845
Homo sapiens Primates KRAS: KRAS ncbigene_synonym NRAS 4893
Homo sapiens Primates GRB2 GRB2 ncbigene_symbol GRB2 2885
Homo sapiens Primates CBL CBL ncbigene_symbol CBL 867
Homo sapiens Primates SHC SHC ncbigene_synonym SHC1 6464
Homo sapiens Primates SHC SHC famplex_relations SHC2 25759
Homo sapiens Primates SHC SHC famplex_relations SHC3 53358
Homo sapiens Primates SHC SHC famplex_relations SHC4 399694
Homo sapiens Primates SOS1: SOS1 ncbigene_symbol SOS1 6654
Homo sapiens Primates SHP2 SHP2 ncbigene_synonym PTPN11 5781
Homo sapiens Primates GTP-RASNF1:NF1,NFNS NFNS ncbigene_synonym NF1 4763
Homo sapiens Primates PTPN11:NS,LSs LSS ncbigene_symbol LSS 4047
Homo sapiens Primates PTPN11:NS,LSs LSS ncbigene_synonym LMBR1 64327
Homo sapiens Primates RAF1: RAF1 ncbigene_symbol RAF1 5894
Homo sapiens Primates RAF1: RAF1 ncbigene_synonym RNASE3 6037
Homo sapiens Primates BRAF: BRAF ncbigene_symbol BRAF 673
Homo sapiens Primates SHOC2 SHOC2 ncbigene_symbol SHOC2 8036
Homo sapiens Primates PP1C PP1C ncbigene_synonym PPP1CB 5500
Homo sapiens Primates PP1C PP1C ncbigene_synonym PPP1CC 5501
Homo sapiens Primates RAF RAF ncbigene_synonym ZHX2 22882
Homo sapiens Primates RAF RAF famplex_relations ARAF 369
Homo sapiens Primates SPRED1 SPRED1 ncbigene_symbol SPRED1 161742
Homo sapiens Primates SHOC2:NS/LAH LAH ncbigene_synonym DSG4 147409
Homo sapiens Primates MEK MEK ncbigene_synonym MAP2K7 5609
Homo sapiens Primates MEK MEK famplex_relations MAP2K1 5604
Homo sapiens Primates MEK MEK famplex_relations MAP2K2 5605
Homo sapiens Primates ERK ERK ncbigene_synonym EPHB2 2048
Homo sapiens Primates ERK ERK ncbigene_synonym MAPK1 5594
Homo sapiens Primates ERK ERK famplex_relations MAPK3 5595
Drosophila melanogaster Invertebrates CS CS ncbigene_symbol cs 248200
Drosophila melanogaster Invertebrates GRB2 GRB2 ncbigene_synonym drk 36497
Drosophila melanogaster Invertebrates CBL CBL ncbigene_symbol Cbl 38961
Drosophila melanogaster Invertebrates SHC SHC ncbigene_symbol Shc 44052
Drosophila melanogaster Invertebrates SOS1: SOS1 ncbigene_synonym Sos 34790
Drosophila melanogaster Invertebrates ubiquitin- UBIQUITIN ncbigene_synonym CG11700 31564
Drosophila melanogaster Invertebrates SHP2 SHP2 ncbigene_synonym csw 45278
Drosophila melanogaster Invertebrates NF1: NF1 ncbigene_symbol Nf1 43149
Drosophila melanogaster Invertebrates RAF1: RAF1 ncbigene_synonym Raf 31221
Drosophila melanogaster Invertebrates PP1C PP1C ncbigene_synonym Pp1alpha-96A 42922
Drosophila melanogaster Invertebrates PP1C PP1C ncbigene_synonym flw 44289
Drosophila melanogaster Invertebrates PP1C PP1C ncbigene_synonym Pp1-13C 48531
Drosophila melanogaster Invertebrates PP1C PP1C ncbigene_synonym Pp1-87B 49260
Drosophila melanogaster Invertebrates and AND ncbigene_synonym CkIIbeta 32132
Drosophila melanogaster Invertebrates and AND ncbigene_synonym Andorra 32798
Drosophila melanogaster Invertebrates and AND ncbigene_synonym Anp 43595
Drosophila melanogaster Invertebrates and AND ncbigene_synonym Acam 44913
Drosophila melanogaster Invertebrates MEK MEK ncbigene_synonym Dsor1 31872
Drosophila melanogaster Invertebrates MEK MEK ncbigene_synonym Mtk 36708
Drosophila melanogaster Invertebrates ERK ERK ncbigene_synonym Erk7 31877
Drosophila melanogaster Invertebrates ERK ERK ncbigene_synonym rl 3354888
Caenorhabditis elegans Invertebrates SOS1: SOS1 ncbigene_symbol sos-1 178846
Caenorhabditis elegans Invertebrates MEK1: MEK1 ncbigene_symbol mek-1 181004
Caenorhabditis elegans Invertebrates MEK2: MEK2 ncbigene_symbol mek-2 171872
Danio rerio Vertebrates HRAS: HRAS ncbigene_synonym hrasa 550286
Danio rerio Vertebrates CS CS ncbigene_symbol cs 322339
Danio rerio Vertebrates KRAS: KRAS ncbigene_symbol kras 445289
Danio rerio Vertebrates NRAS: NRAS ncbigene_symbol nras 30380
Danio rerio Vertebrates GRB2 GRB2 ncbigene_synonym grb2b 406308
Danio rerio Vertebrates CBL CBL ncbigene_symbol cbl 492364
Danio rerio Vertebrates CBL CBL ncbigene_synonym cblb 556277
Danio rerio Vertebrates SOS1: SOS1 ncbigene_symbol sos1 556286
Danio rerio Vertebrates ubiquitin- UBIQUITIN ncbigene_synonym tmub2 368511
Danio rerio Vertebrates ubiquitin- UBIQUITIN ncbigene_synonym nedd8 368667
Danio rerio Vertebrates SHP2 SHP2 ncbigene_synonym ptpn11a 333979
Danio rerio Vertebrates NF1: NF1 ncbigene_synonym nf1a 326708
Danio rerio Vertebrates PTPN11:NS,LSs LSS ncbigene_symbol lss 795400
Danio rerio Vertebrates RAF1: RAF1 ncbigene_synonym raf1a 30716
Danio rerio Vertebrates BRAF: BRAF ncbigene_symbol braf 403065
Danio rerio Vertebrates BRAF: BRAF ncbigene_synonym si:dkey-222f8.3 561722
Danio rerio Vertebrates SHOC2 SHOC2 ncbigene_symbol shoc2 555476
Danio rerio Vertebrates receptor RECEPTOR ncbigene_synonym kita 30256
Danio rerio Vertebrates receptor RECEPTOR ncbigene_synonym ngfra 100535003
Danio rerio Vertebrates SPRED1 SPRED1 ncbigene_symbol spred1 406513
Danio rerio Vertebrates MEK1: MEK1 ncbigene_synonym map2k1 406728
Danio rerio Vertebrates MEK2: MEK2 ncbigene_synonym map2k2a 563181

Chemical mentions

Word Match MeSH Name ChEBI

Disease mentions

Word Match MeSH Name DOID
Cancer NA
Cardiomyopathy NA
Lung cancer NA
Noonan syndrome NA