GTS5:Table of Contents

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

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

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

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

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

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

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

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

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

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

Oxidative stress response and metabolism (Overview Page Link Complete )

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

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

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

Cell cycle and apoptosis pathways (Overview Page Link Complete )

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

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

FAS pathway
  - GTS5:Autoimmune lymphoproliferative syndrome (FAS)  Incomplete 

DNA repair and genomic stability (Overview Page Link Complete )

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

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)  Incomplete 
  - GTS5:Fanconi anaemia (FANC genes)  Incomplete 

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

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

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

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

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

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

Telomere maintenance (Overview Page Link Complete )

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

Epigenetic drivers and chromatin remodelling (Overview Page Link Complete )

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

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

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

RNA regulation (Overview Page Link Complete )

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

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

Protein regulation (Overview Page Link Complete )

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