Li-Fraumeni Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An autosomal dominant disease characterized by increases risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata. (Human Disease Ontology, DOID_3012)
External Link https://www.disgenet.org/browser/0/1/0/C1836482
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Genes

71 genes associated with the disease Li-Fraumeni Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
ANKRD26 ankyrin repeat domain 26
AR androgen receptor
ATF2 activating transcription factor 2
ATM ATM serine/threonine kinase
B2M beta-2-microglobulin
BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
BCL10 B-cell CLL/lymphoma 10
BCL2 B-cell CLL/lymphoma 2
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
CAV1 caveolin 1, caveolae protein, 22kDa
CD44 CD44 molecule (Indian blood group)
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDK2 cyclin-dependent kinase 2
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CHEK1 checkpoint kinase 1
CHEK2 checkpoint kinase 2
CPSF6 cleavage and polyadenylation specific factor 6, 68kDa
CREG1 cellular repressor of E1A-stimulated genes 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DCK deoxycytidine kinase
DCN decorin
DDX41 DEAD (Asp-Glu-Ala-Asp) box polypeptide 41
DLL4 delta-like 4 (Drosophila)
DNA2 DNA replication helicase/nuclease 2
DOCK11 dedicator of cytokinesis 11
EGFR epidermal growth factor receptor
ERBB2 erb-b2 receptor tyrosine kinase 2
ESR1 estrogen receptor 1
ETV6 ets variant 6
GATA2 GATA binding protein 2
H2AX H2A.X variant histone
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IGFBP7 insulin-like growth factor binding protein 7
IRF7 interferon regulatory factor 7
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MLH1 mutL homolog 1
MUTYH mutY homolog
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
OCLN occludin
PCNA proliferating cell nuclear antigen
PKM pyruvate kinase, muscle
PLXNA3 plexin A3
PTEN phosphatase and tensin homolog
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RALBP1 ralA binding protein 1
RB1 retinoblastoma 1
RBM17 RNA binding motif protein 17
RECQL4 RecQ protein-like 4
RNASE3 ribonuclease, RNase A family, 3
RPS19 ribosomal protein S19
RUNX1 runt-related transcription factor 1
SFRP2 secreted frizzled-related protein 2
SHH sonic hedgehog
SKP2 S-phase kinase-associated protein 2, E3 ubiquitin protein ligase
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SRP72 signal recognition particle 72kDa
TOP2B topoisomerase (DNA) II beta 180kDa
TP53 tumor protein p53
TWSG1 twisted gastrulation BMP signaling modulator 1
WT1 Wilms tumor 1
ZDHHC9 zinc finger, DHHC-type containing 9