TELO2, telomere maintenance 2, 9894

N. diseases: 37; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME 		0.700 Biomarker disease GENOMICS_ENGLAND Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome. 28944240 2017
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME 		0.700 CausalMutation disease CLINVAR
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME 		0.700 Biomarker disease CTD_human
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME 		0.700 Biomarker disease GENOMICS_ENGLAND Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome. 28944240 2017
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME 		0.700 GeneticVariation disease CLINVAR
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME 		0.700 GeneticVariation disease UNIPROT A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. 27132593 2016
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME 		0.700 GermlineCausalMutation disease ORPHANET A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. 27132593 2016
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		0.100 Biomarker disease HPO
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		0.100 Biomarker disease HPO
CUI: C0023418
Disease: leukemia
leukemia 		0.020 AlteredExpression disease BEFREE TEL2, an ETS factor expressed in human leukemia, regulates monocytic differentiation of U937 Cells and blocks the inhibitory effect of TEL1 on ras-induced cellular transformation. 15342392 2004
CUI: C0023418
Disease: leukemia
leukemia 		0.020 AlteredExpression disease BEFREE TEL2 is expressed in the hematopoietic system, and its expression is up-regulated in bone marrow samples of some patients with leukemia, suggesting a role in oncogenesis. 16234363 2006
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		0.020 Biomarker disease BEFREE Recently we also showed that TEL2 cooperates with Myc in B lymphomagenesis in mice. 16234363 2006
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		0.020 AlteredExpression disease BEFREE The novel ETS factor TEL2 cooperates with Myc in B lymphomagenesis. 15743832 2005
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.020 AlteredExpression disease BEFREE TEL2 is expressed in the hematopoietic system, and its expression is up-regulated in bone marrow samples of some patients with leukemia, suggesting a role in oncogenesis. 16234363 2006
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.020 AlteredExpression disease BEFREE TEL2, an ETS factor expressed in human leukemia, regulates monocytic differentiation of U937 Cells and blocks the inhibitory effect of TEL1 on ras-induced cellular transformation. 15342392 2004
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.020 AlteredExpression disease BEFREE TEL2 expression was analyzed in three representative NPC cell lines expressing low levels of Snail (S26, 6-10B, HK1) and two cell lines expressing high levels of Snail (S18, 5-8F). 30253797 2018
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.020 Biomarker disease BEFREE Collectively, we have provided the first evidence that TEL2 plays a key role in NPC metastasis by directly down-regulating SERPINE1, and that this novel axis of TEL2 / SERPINE1 may be valuable to develop new strategies for treating NPC patients with metastasis. 26335051 2015
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.010 Biomarker disease BEFREE Here we show that FANCM and FAAP24 interact with the checkpoint protein HCLK2 independently of the FA core complex. 18995830 2008
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 Biomarker disease BEFREE SCFFbxo9 and CK2 direct the cellular response to growth factor withdrawal via Tel2/Tti1 degradation and promote survival in multiple myeloma. 23263282 2013
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		0.010 Biomarker disease BEFREE Upregulating Tel2 expression increases mTOR-mediated cardiomyocyte survival and targeting Tel2 could be another therapeutic strategy against ischemic heart disease. 31323273 2019