GTS5:Table of Contents

Growth factor receptors and related signalling pathways (Overview Page Link Complete )

Growth factor receptors
  - GTS5:Hereditary papillary renal carcinoma (MET) 
  - GTS5:Multiple endocrine neoplasia type 2 (RET) 
  - GTS5:Juvenile polyposis syndrome (BMPR1A, SMAD4) 
  - GTS5:Hereditary neuroblastoma (ALK, PHOX2B) 
  - GTS5:Encephalocraniocutaneous lipomatosis (FGFR1) 

G-coupled protein receptor pathway
  - GTS5:Glucagon cell hyperplasia and neoplasia (GCGR) 
  - GTS5:McCune-Albright syndrome (GNAS) 
  - GTS5:Sturge-Weber syndrome (GNAQ) 

RAS-MAPK pathway
  - GTS5:Neurofibromatosis type 1 (NF1) 
  - GTS5:NF2-related schwannomatosis (NF2) 
  - GTS5:Costello syndrome (HRAS) 
  - GTS5:Noonan syndrome (Various genes) 
  - GTS5:Schimmelpenning-Feuerstein-Mims (HRAS, KRAS) 

PKA signalling pathway
  - GTS5:Carney complex (PRKAR1A, PDE8B, PDE11A) 
  - GTS5:PROS syndrome (PIK3CA) 

WNT/TGFbeta pathway
  - GTS5:Familial adenomatous polyposis (APC) 
  - GTS5:Gastric Adenocarcinoma and Proximal Polyposis of Stomach - GAPPS (APC promoter) 
  - GTS5:AXIN2-associated polyposis (AXIN2) 
  - GTS5:Serrated polyposis (RNF43) 
  - GTS5:WT1 related tumour predisposition syndrome (WT1) 
  - GTS5:WAGR syndrome (WT1) 
  - GTS5:Multiple endocrine neoplasia type 1 (MEN1) 
  - GTS5:Peutz-Jeghers syndrome (STK11) 
  - GTS5:Hereditary gastric and breast cancer syndrome (CDH1, CTNNA1) 
  - GTS5:Hereditary mixed polyposis syndrome (GREM1) 

Hedgehog signalling pathway
  - GTS5:Naevoid basal cell carcinoma syndrome - Gorlin syndrome (PTCH1, SUFU, GPR161) 
  - GTS5:SMO-related Curry-Jones syndrome (SMO) 
  - GTS5:ELP1-related medulloblastoma predisposition syndrome(ELP1) 
  - GTS5:Osteochondromatosis (EXT1, EXT2) 

NF-kB signalling pathway
  - GTS5:Brooke-Spiegler syndrome (CYLD) 

MTOR and PI3K pathway
  - GTS5:Tuberous sclerosis (TSC1, TSC1) 
  - GTS5:PTEN hamartoma tumour syndrome (PTEN) 
  - GTS5:Activated Phosphatidylinositol-3-OH kinase δ Syndrome - APDS (PIK3CD) 

Transcription factors and regulators
  - GTS5:Multiple endocrine neoplasia type 5, MAX related tumours (MAX) 
  - GTS5:MAFA-related familial insulinomatosis (MAFA) 
  - GTS5:Birt-Hogg-Dube syndrome (FLCN) 
  - GTS5:Familial chordoma (TBXT) 
  - GTS5:Hyperparathyroidism jaw tumour syndrome (CDC73) 

Oxidative stress response and metabolism (Overview Page Link Complete )

Angiogenesis
  - GTS5:Von Hippel-Lindau syndrome (VHL) 

Krebs cycle
  - GTS5:SDH-deficient tumour syndrome - Hereditary phaeochromocytoma-paraganglioma syndromes (SDHA, SDHB, SDHC, SDHD, SDHAF2) 
  - GTS5:Hereditary leiomyomatosis and renal cell carcinoma syndrome (FH) 

Toxic metabolite-mediated disorders
  - GTS5:Hereditary tyrosinaemia type 1 (FAH) 

Cell cycle and apoptosis pathways (Overview Page Link Complete )

P53 pathway
  - GTS5:Li-Fraumeni syndrome (TP53) 

RB pathway
  - GTS5:Retinoblastoma syndrome (RB1) 
  - GTS5:Multiple endocrine neoplasia type 4 (CDKN1B) 
  - GTS5:CDKN2A-related tumour predisposition syndrome (CDKN2A) 
  - GTS5:CDK4-related melanoma predisposition syndrome (CDK4) 

FAS pathway
  - GTS5:Autoimmune lymphoproliferative syndrome (FAS) 

DNA repair and genomic stability (Overview Page Link Complete )

Mismatch repair
  - GTS5:Lynch Syndrome (MLH1, PMS2, MSH2, MSH6) 
  - GTS5:Muir-Torre syndrome (MLH1, PMS2, MSH2, MSH6) 
  - GTS5:Constitutional mismatch repair deficiency (CMMRD) syndrome (MLH1, PMS2, MSH2, MSH6) 

Homologous recombination
  - GTS5:BRCA-related cancer predisposition syndrome (BRCA1, BRCA2)  Complete 
  - GTS5:PALB2-related cancer predisposition syndrome (PALB2)  Complete 
  - GTS5:RAD51-related cancer predisposition syndrome (RAD51C, RAD51D) 
  - GTS5:Fanconi anaemia (FANC genes) 

Base excision repair genes
  - GTS5:MUTYH-associated polyposis (MUTYH) 
  - GTS5:NTHL1-related tumour syndrome (NTHL1) 
  - GTS5:MBD4-associated neoplasia syndrome (MBD4) 

Deficient nucleotide excision repair (NER) of DNA damage
  - GTS5:Xeroderma Pigmentosum 

Non-homologous end joining (NHEJ)
  - GTS5:Ataxia-telangiectasia syndrome (ATM) 
  - GTS5:CHEK2-related hereditary (breast) cancer predisposition syndrome (CHEK2) 
  - GTS5:Nijmegen breakage syndrome (NBN) 

DNA Polymerization
  - GTS5:Polymerase proofreading-associated polyposis (POLD1, POLE) 

Helicases
  - GTS5:Bloom syndrome (BLM) 
  - GTS5:Werner syndrome (WRN) 
  - GTS5:Rothmund-Thomson syndrome (ANAPC1, RECQL4) 
  - GTS5:DDX41-related haematologic tumour predisposition syndrome (DDX41) 

Chromosomal non-dysjunction (aneuploidy) syndromes
  - GTS5:Mosaic variegated aneuploidy (BUB1B, CEP57, TRIP13, BUB1, BUB3) 
  - GTS5:Klinefelter syndrome 
  - GTS5:Turner syndrome 
  - GTS5:Down syndrome 

Telomere maintenance (Overview Page Link Complete )

Telomere biology disorders
  - GTS5:Dyskeratosis congenita (DKC1, TERT, TERC, TINF2, Other IBMFS genes) 
  - GTS5:POT1 and Shelterin-related tumour predisposition syndrome (POT1, ACD, TERF2IP, TERT promoter) 

Epigenetic drivers and chromatin remodelling (Overview Page Link Complete )

Imprinting disorders
  - GTS5:Beckwith-Wiedemann spectrum (IGF2; CDKN1C) 

Histone and DNA methylation
  - GTS5:Enchondromatosis (IDH1, IDH2) 

Chromatin remodelling pathway
  - GTS5:Rhabdoid tumour predisposition syndrome (SMARCB1, SMARCA4) 
  - GTS5:Schwannomatosis (SMARCB1, LZTR1) 
  - GTS5:Clear cell meningioma predisposition syndrome (SMARCE1) 
  - GTS5:Weaver syndrome (EZH2) 

RNA regulation (Overview Page Link Complete )

MicroRNA
  - GTS5:DICER1-related tumour predisposition syndrome (DICER1) 
  - GTS5:MicroRNA processor tumour predisposition syndromes (DROSHA, DGCR8) 

RNA splicing
  - GTS5:Goldenhar syndrome (MYT1, SF3B2) 

Protein regulation (Overview Page Link Complete )

Ubiquitin pathway
  - GTS5:BAP1-related tumour predisposition syndrome (BAP1)