TCTN1, tectonic family member 1, 79600

N. diseases: 82; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.610 GeneticVariation disease BEFREE Consistent with a shared function for complex components, we identified a mutation in TCTN1 that causes Joubert syndrome. 21725307 2011
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.020 Biomarker disease BEFREE Tectonic family member 1 (TCTN1) is one of the tectonic family members, and a regulator of the hedgehog signaling pathway, which has been studied in various cancer types, including prostate and pancreatic cancer. 29042969 2017
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.020 Biomarker disease BEFREE The data indicate that TCTN1 is indispensable for pancreatic cancer cell proliferation, which provides a novel alternative to targeted therapy of pancreatic cancer and deserves further investigation. 26844847 2016
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.020 Biomarker disease BEFREE The data indicate that TCTN1 is indispensable for pancreatic cancer cell proliferation, which provides a novel alternative to targeted therapy of pancreatic cancer and deserves further investigation. 26844847 2016
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.020 Biomarker disease BEFREE Tectonic family member 1 (TCTN1) is one of the tectonic family members, and a regulator of the hedgehog signaling pathway, which has been studied in various cancer types, including prostate and pancreatic cancer. 29042969 2017
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 Biomarker disease BEFREE Knockdown of TCTN1 Strongly Decreases Growth of Human Colon Cancer Cells. 28123172 2017
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		0.010 Biomarker disease BEFREE Lentivirus-mediated RNA interference was applied to downregulate TCTN1 in the thyroid cancer cell lines, CAL62 and 8305C. 29042969 2017
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 Biomarker disease BEFREE Collectively, these data stated that the inhibitory effect of miR-1256 in NSCLC was realized by upregulating TCTN1, suggesting that miR-1256/TCTN1 axis may play a critical role as NSCLC therapeutic target. 30008857 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 AlteredExpression disease BEFREE RESULTS In this study, meta-analysis showed that the expressions of TCTN1 mRNA in CRC specimens were significantly higher than that in normal specimens. 28123172 2017
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0.010 GeneticVariation disease BEFREE Reviewing the clinical data on patients with sequence variants in the tectonic genes TCTN1-3 reveals that all of them have a neurological phenotype with vermis hypoplasia or occipital encephalocele associated with severe intellectual disability in the surviving patients. 25118024 2015
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 AlteredExpression disease BEFREE As discovered in three independent cohorts, both mRNA and protein levels of TCTN1 expression were markedly elevated in human GBMs, and higher TCTN1 expression served as an independent prognostic factor predicting poorer prognosis of GBM patients. 25304031 2014
CUI: C0017638
Disease: Glioma
Glioma 		0.010 Biomarker disease BEFREE These data suggest TCTN1 is essential for glioma cell viability, and dysregulation of TCTN1 may play a key role in glioma tumorigenesis. 25737023 2015
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 Biomarker disease BEFREE In conclusion, the results demonstrated that TCTN1 was essential in the growth of gastric cancer cells in vitro, suggesting TCTN1 as a potential target candidate for the treatment of gastric cancer. 26252641 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 AlteredExpression group BEFREE Our results demonstrate that miR-216a-5p might serve as a tumor suppressor in ESCC cells through negatively regulating TCTN1 expression, indicating the possibility that miR-216a-5p and TCTN1 might be attractive targets for ESCC therapeutic intervention. 31297133 2019
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		0.010 Biomarker disease BEFREE Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI). 28631893 2017
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.010 GeneticVariation disease BEFREE Reviewing the clinical data on patients with sequence variants in the tectonic genes TCTN1-3 reveals that all of them have a neurological phenotype with vermis hypoplasia or occipital encephalocele associated with severe intellectual disability in the surviving patients. 25118024 2015
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.010 Biomarker disease BEFREE Lentivirus-mediated RNA interference was applied to downregulate TCTN1 in the thyroid cancer cell lines, CAL62 and 8305C. 29042969 2017
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.010 GeneticVariation disease BEFREE Consistent with this, Tctn3 mutant mice exhibit holoprosencephaly and randomized heart looping and lack the floor plate in the neural tube, the phenotypes similar to those of Tctn1 and Tctn2 mutants. 28800946 2017
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.010 GeneticVariation disease BEFREE In this report, we describe the phenotype of a patient with Varadi syndrome who is homozygous for a previously reported mutation in TCTN1 (NM_001082538.2:c.342-2A>G, p.Gly115Lysfs*8) and suggest that allelic disorders linked to TCTN1 include Varadi syndrome, in addition to Joubert syndrome and Meckel-Gruber syndrome. 28631893 2017
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 Biomarker disease BEFREE Expression and prognostic significance of TCTN1 in human glioblastoma. 25304031 2014
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 AlteredExpression disease BEFREE In addition, TCTN1 expression was significantly increased and inversely correlated with the levels of miR-216a-5p in ESCC tissues. 31297133 2019
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		0.010 AlteredExpression phenotype BEFREE BACKGROUND Tectonic family member 1 (TCTN1), a member of the tectonic family, is involved in several developmental processes and is aberrantly expressed in multiple solid tumors. 28123172 2017
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 Biomarker disease BEFREE Expression and prognostic significance of TCTN1 in human glioblastoma. 25304031 2014
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 AlteredExpression disease BEFREE The results demonstrated that TCTN1 was widely expressed in several human prostate cancer cell lines. 26310786 2015
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.010 Biomarker disease BEFREE Lentivirus-mediated RNA interference was applied to downregulate TCTN1 in the thyroid cancer cell lines, CAL62 and 8305C. 29042969 2017