Ataxia telangiectasia | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ATAXIA TELANGIECTASIA	C0004135 MESH:D001260 MONDO:0008840	ATM	Unknown	11507241 11507245 15177039 15498871 8958160 9443866 22345219 11889466 9450874 8808599 9600235 8968760 7792600 11826028 9781027 9887333 9521587 2491181 8755918	CTD, ClinGen, Disgenet, GWAS catalog	Platinum drug resistance Homologous recombination NF-kappa B signaling pathway +33 more
		BAK1	Unknown	—	Disgenet	Platinum drug resistance Protein processing in endoplasmic reticulum Apoptosis +32 more
		BAX	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +52 more
		BIK	Unknown	—	Disgenet	Endocrine resistance
		BRAF	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +52 more
		C11ORF65	Unknown	—	Disgenet	—
		HDAC4	Unknown	—	Disgenet	Apelin signaling pathway Neutrophil extracellular trap formation Alcoholism +8 more
		IFNG	Unknown	—	Disgenet	Proteasome Cytokine-cytokine receptor interaction HIF-1 signaling pathway +33 more
		IL2	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor PI3K-Akt signaling pathway +21 more
ATAXIA TELANGIECTASIA LIKE DISORDER	MESH:C565779	MRE11	Unknown	—	CTD	Homologous recombination Non-homologous end-joining Cellular senescence +16 more
ATAXIA TELANGIECTASIA LIKE DISORDER	MESH:C565779	PCNA	Unknown	—	CTD	DNA replication Base excision repair Nucleotide excision repair +29 more
ATAXIA-TELANGIECTASIA	100 208900	ATM	Unknown	20301790	HPO, Orphanet	Platinum drug resistance Homologous recombination NF-kappa B signaling pathway +33 more
ATAXIA-TELANGIECTASIA SYNDROME		ATM	Causal	—	ClinVar	Platinum drug resistance Homologous recombination NF-kappa B signaling pathway +33 more
ATAXIA-TELANGIECTASIA VARIANT	370109 C1876175	ATM	Unknown	23946315	Disgenet, Orphanet, ClinGen	Platinum drug resistance Homologous recombination NF-kappa B signaling pathway +33 more
ATAXIA-TELANGIECTASIA VARIANT	370109 C1876175	C11ORF65	Unknown	—	Disgenet	—
ATAXIA-TELANGIECTASIA-LIKE DISORDER	251347 C1858391	MRE11	Causal	10612394	Disgenet, Orphanet	Homologous recombination Non-homologous end-joining Cellular senescence +16 more
ATAXIA-TELANGIECTASIA-LIKE DISORDER	251347 C1858391	PCNA	Unknown	—	Disgenet	DNA replication Base excision repair Nucleotide excision repair +29 more
ATAXIA-TELANGIECTASIA-LIKE DISORDER 1	604391 C4012790 MONDO:0024557	MRE11	Causal	10612394 11371508 15269180 24332946	ClinVar, Disgenet, GWAS catalog, HPO	Homologous recombination Non-homologous end-joining Cellular senescence +16 more
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2	615919 C4014676 MONDO:0014399	PCNA	Causal	17664295 24911150 251410	ClinVar, Disgenet, GenCC, HPO	DNA replication Base excision repair Nucleotide excision repair +29 more