4.0
Noonan syndrome
Pathway ID: SIGNOR-NS
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Description: Noonan syndrome is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations.Mutations in the PTPN11 gene cause about half of all cases. SOS1 gene mutations cause an additional 10 to 15 percent, and RAF1 and RIT1 genes each account for about 5 percent of cases.
Curated by: Gianni Cesareni
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Description: Noonan syndrome is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations.Mutations in the PTPN11 gene cause about half of all cases. SOS1 gene mutations cause an additional 10 to 15 percent, and RAF1 and RIT1 genes each account for about 5 percent of cases.
Curated by: Gianni Cesareni
Use SIGNOR Cytoscape App
38 Seed Entities
Organism: 
|
Name | Primary ID |
|---|---|
| N(6)-methyl-AMP(2-) | CHEBI:144842 |
| MEK1/2 | SIGNOR-PF25 |
| PPP1CA | P62136 |
| GRB2 | P62993 |
| guanosine 5'-monophosphate(2-) | CHEBI:58115 |
| hypoxanthine | CHEBI:17368 |
| ELK1 | P19419 |
| GAB1 | Q13480 |
| RIT1 | Q92963 |
| Nucleotide_synthesis | SIGNOR-PH179 |
| 2'-deoxyinosine 5'-phosphate(2-) | CHEBI:61194 |
| AMPD1 | P23109 |
| SHOC2 | Q9UQ13 |
| PTPN11 | Q06124 |
| NRAS | P01111 |
| BRAF | P15056 |
| N(6)-methyl-dAMP(2-) | CHEBI:169976 |
| SHC1 | P29353 |
| APRT | P07741 |
| RAF1 | P04049 |
| IMP | CHEBI:17202 |
| SPRY1 | O43609 |
| methylammonium | CHEBI:59338 |
| guanine | CHEBI:16235 |
| 5-phospho-α-D-ribose 1-diphosphate | CHEBI:58017 |
| ERK1/2 | SIGNOR-PF1 |
| diphosphate(3-) | CHEBI:33019 |
| KRAS | P01116 |
| HPRT1 | P00492 |
| HRAS | P01112 |
| SOS1 | Q07889 |
| adenine | CHEBI:16708 |
| EGFR | P00533 |
| ammonium | CHEBI:28938 |
| MAPDA | Q6DHV7 |
| AMPD3 | Q01432 |
| AMP | CHEBI:456215 |
| AMPD2 | Q01433 |