Homo sapiens (human) Diseases of signal transduction (provided by Reactome)
About the Diseases of signal transduction pathway
Signaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecular consequences of mutations affecting visual signal transduction and signaling by diverse growth factors are annotated.
The longest variant of each gene is displayed. Click the see gene variants link to see all gene variants.
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Gene Symbol | Full Name |
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ADAM10 | ADAM metallopeptidase domain 10 |
JAG1 | jagged 1 |
AKT1 | v-akt murine thymoma viral oncogene homolog 1 |
AKT2 | v-akt murine thymoma viral oncogene homolog 2 |
APC | adenomatous polyposis coli |
BAD | BCL2-associated agonist of cell death |
OPN1SW | opsin 1 (cone pigments), short-wave-sensitive |
BCR | breakpoint cluster region |
BTC | betacellulin |
CASP9 | caspase 9, apoptosis-related cysteine peptidase |
CBL | Cbl proto-oncogene, E3 ubiquitin protein ligase |
CCNC | cyclin C |
CD19 | CD19 molecule |
CD28 | CD28 molecule |
CD80 | CD80 molecule |
CD86 | CD86 molecule |
CDK8 | cyclin-dependent kinase 8 |
CDKN1A | cyclin-dependent kinase inhibitor 1A (p21, Cip1) |
CDKN1B | cyclin-dependent kinase inhibitor 1B (p27, Kip1) |
CHUK | conserved helix-loop-helix ubiquitous kinase |
CREB1 | cAMP responsive element binding protein 1 |
CREBBP | CREB binding protein |
CSNK1A1 | casein kinase 1, alpha 1 |
CTBP1 | C-terminal binding protein 1 |
CTBP2 | C-terminal binding protein 2 |
CTNNB1 | catenin (cadherin-associated protein), beta 1, 88kDa |
CUX1 | cut-like homeobox 1 |
HBEGF | heparin-binding EGF-like growth factor |
EGF | epidermal growth factor |
EGFR | epidermal growth factor receptor |
EP300 | E1A binding protein p300 |
ERBB2 | erb-b2 receptor tyrosine kinase 2 |
ERBB3 | erb-b2 receptor tyrosine kinase 3 |
ERBB4 | erb-b2 receptor tyrosine kinase 4 |
EREG | epiregulin |
FGF1 | fibroblast growth factor 1 (acidic) |
FGF2 | fibroblast growth factor 2 (basic) |
FGF3 | fibroblast growth factor 3 |
FGF4 | fibroblast growth factor 4 |
FGF5 | fibroblast growth factor 5 |
FGF6 | fibroblast growth factor 6 |
FGF7 | fibroblast growth factor 7 |
FGF8 | fibroblast growth factor 8 (androgen-induced) |
FGF9 | fibroblast growth factor 9 |
FGF10 | fibroblast growth factor 10 |
FGFR1 | fibroblast growth factor receptor 1 |
FGFR3 | fibroblast growth factor receptor 3 |
FGFR2 | fibroblast growth factor receptor 2 |
FGFR4 | fibroblast growth factor receptor 4 |
FKBP1A | FK506 binding protein 1A, 12kDa |
FOXO1 | forkhead box O1 |
FOXO3 | forkhead box O3 |
MTOR | mechanistic target of rapamycin (serine/threonine kinase) |
FYN | FYN proto-oncogene, Src family tyrosine kinase |
GAB1 | GRB2-associated binding protein 1 |
KAT2A | K(lysine) acetyltransferase 2A |
OPN1MW | opsin 1 (cone pigments), medium-wave-sensitive |
GRB2 | growth factor receptor-bound protein 2 |
GSK3A | glycogen synthase kinase 3 alpha |
GSK3B | glycogen synthase kinase 3 beta |
HDAC1 | histone deacetylase 1 |
HDAC2 | histone deacetylase 2 |
NRG1 | neuregulin 1 |
NR4A1 | nuclear receptor subfamily 4, group A, member 1 |
HRAS | Harvey rat sarcoma viral oncogene homolog |
HES1 | hes family bHLH transcription factor 1 |
HSP90AA1 | heat shock protein 90kDa alpha (cytosolic), class A member 1 |
RBPJ | recombination signal binding protein for immunoglobulin kappa J region |
IRS1 | insulin receptor substrate 1 |
JAG2 | jagged 2 |
KIT | v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog |
KRAS | Kirsten rat sarcoma viral oncogene homolog |
LCK | LCK proto-oncogene, Src family tyrosine kinase |
LRP6 | low density lipoprotein receptor-related protein 6 |
LRP5 | low density lipoprotein receptor-related protein 5 |
SMAD2 | SMAD family member 2 |
SMAD3 | SMAD family member 3 |
SMAD4 | SMAD family member 4 |
MDM2 | MDM2 proto-oncogene, E3 ubiquitin protein ligase |
KITLG | KIT ligand |
FOXO4 | forkhead box O4 |
MYC | v-myc avian myelocytomatosis viral oncogene homolog |
NOTCH1 | notch 1 |
NRAS | neuroblastoma RAS viral (v-ras) oncogene homolog |
PDGFA | platelet-derived growth factor alpha polypeptide |
PDGFB | platelet-derived growth factor beta polypeptide |
PDGFRA | platelet-derived growth factor receptor, alpha polypeptide |
PDGFRB | platelet-derived growth factor receptor, beta polypeptide |
PDPK1 | 3-phosphoinositide dependent protein kinase 1 |
PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta |
PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta |
PIK3R1 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) |
PIK3R2 | phosphoinositide-3-kinase, regulatory subunit 2 (beta) |
PLCG1 | phospholipase C, gamma 1 |
PPP2CA | protein phosphatase 2, catalytic subunit, alpha isozyme |
PPP2CB | protein phosphatase 2, catalytic subunit, beta isozyme |
PPP2R1A | protein phosphatase 2, regulatory subunit A, alpha |
PPP2R1B | protein phosphatase 2, regulatory subunit A, beta |
PPP2R5A | protein phosphatase 2, regulatory subunit B', alpha |