GTS5:Table of Contents

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

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)

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)

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)

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)
  - GTS5:PALB2-related cancer predisposition syndrome (PALB2)
  - 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)

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)

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)

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)

Ubiquitin pathway

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