MARVELD2, MARVEL domain containing 2, 153562

N. diseases: 26; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.010 Biomarker disease BEFREE In this review, we focus on the roles of tight junctions (occludin, tricellulin, claudin, junctional adhesion molecule, and zonula occludin), adherens junctions (E-cadherin and p120-, α-, and β-catenin), and other adhesion molecules (selectin and intercellular adhesion molecules) in the progression of AP and CP. 30140950 2019
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.010 Biomarker disease BEFREE In this review, we focus on the roles of tight junctions (occludin, tricellulin, claudin, junctional adhesion molecule, and zonula occludin), adherens junctions (E-cadherin and p120-, α-, and β-catenin), and other adhesion molecules (selectin and intercellular adhesion molecules) in the progression of AP and CP. 30140950 2019
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 AlteredExpression disease BEFREE We report that Tric is downregulated in UC, but not in CD, and that its reduction increases the passage of macromolecules. 28612843 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 Biomarker disease BEFREE Immunofluorescence of the tight junction proteins claudin-5 and tricellulin showed lower levels in healthy co-twins [p < 0.05] and affected twins [p < 0.05] compared with external controls, while ELISA only showed lower tricellulin in Crohn's disease twins [p < 0.05]. 29659773 2018
CUI: C0023418
Disease: leukemia
leukemia 		0.010 AlteredExpression disease BEFREE These techniques can be applied, as preliminary screening methods for designing and/or selecting new compounds with defined activity.Here we describe step by step how to preliminarily screen ionic liquids (a set of 13 ILs) and assess their cytotoxic activity against leukemia cell line IPC-81 as well as ILs' potential to inhibit acetylcholinesterase enzyme using the TRIC method (toxicity ranking index of cations) combined with the QSAR approach. 29934911 2018
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 AlteredExpression disease BEFREE These techniques can be applied, as preliminary screening methods for designing and/or selecting new compounds with defined activity.Here we describe step by step how to preliminarily screen ionic liquids (a set of 13 ILs) and assess their cytotoxic activity against leukemia cell line IPC-81 as well as ILs' potential to inhibit acetylcholinesterase enzyme using the TRIC method (toxicity ranking index of cations) combined with the QSAR approach. 29934911 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 AlteredExpression phenotype BEFREE LSR was colocalized with TRIC, angiomotin (AMOT), Merlin and phosphorylated YAP (pYAP). siRNA-LSR increased expression of pYAP and decreased that of AMOT and Merlin. siRNA-YAP prevented expression of the mRNAs of AREG and TEAD1, and the cell migration and invasion induced by siRNA-LSR. 28071680 2017
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. 27344577 2016
CUI: C1857811
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 49
DEAFNESS, AUTOSOMAL RECESSIVE 49 		0.810 Biomarker disease MGD Deletion of Tricellulin Causes Progressive Hearing Loss Associated with Degeneration of Cochlear Hair Cells. 26677943 2015
CUI: C1857811
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 49
DEAFNESS, AUTOSOMAL RECESSIVE 49 		0.810 CausalMutation disease CLINVAR Transcription-coupled RNA surveillance in human genetic diseases caused by splice site mutations. 25652404 2015
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.420 GeneticVariation phenotype BEFREE We sequenced 6 exons of the MARVELD2 gene in a group of 143 unrelated hearing impaired Slovak Roma patients. 25885414 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 GeneticVariation disease BEFREE Recessive mutations of TRIC (DFNB49) encoding tricellulin and ILDR1 (DFNB42) cause human nonsyndromic deafness. 25217574 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN Deletion of Tricellulin Causes Progressive Hearing Loss Associated with Degeneration of Cochlear Hair Cells. 26677943 2015
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.200 Biomarker disease MGD Deletion of Tricellulin Causes Progressive Hearing Loss Associated with Degeneration of Cochlear Hair Cells. 26677943 2015
CUI: C0008373
Disease: Cholesteatoma
Cholesteatoma 		0.010 AlteredExpression disease BEFREE The expressions of MARVELD2, CLDN1 and CLDN3 mRNA were significantly lower in the cholesteatoma tissue than in the post-auricular skin. 25319490 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN Deafness in occludin-deficient mice with dislocation of tricellulin and progressive apoptosis of the hair cells. 25063198 2014
CUI: C1857811
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 49
DEAFNESS, AUTOSOMAL RECESSIVE 49 		0.810 Biomarker disease MGD We generated a knockin mouse that carries a mutation orthologous to the TRIC coding mutation linked to DFNB49 hearing loss in humans. 23979167 2013
CUI: C1857811
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 49
DEAFNESS, AUTOSOMAL RECESSIVE 49 		0.810 CausalMutation disease CLINVAR We generated a knockin mouse that carries a mutation orthologous to the TRIC coding mutation linked to DFNB49 hearing loss in humans. 23979167 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN Mutations in TRIC (also known as MARVELD2), which encodes a tricellular tight junction protein known as tricellulin, lead to nonsyndromic hearing loss (DFNB49). 23979167 2013
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.200 Biomarker disease MGD Tricellulin deficiency affects tight junction architecture and cochlear hair cells. 23979167 2013
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps 		0.010 AlteredExpression disease BEFREE The quantity of tricellulin mRNA was significantly higher in the inferior turbinates than in the nasal polyps. 22926991 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran. 22903915 2012
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 AlteredExpression group BEFREE Well-differentiated ductal adenocarcinomas significantly overexpressed tricellulin as compared with poorly differentiated adenocarcinomas. 22394074 2012
CUI: C0206685
Disease: Acinar Cell Carcinoma
Acinar Cell Carcinoma 		0.010 AlteredExpression disease BEFREE Acinar cell carcinomas expressed tricellulin in tumour cells. 22394074 2012
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.010 Biomarker disease BEFREE Three additional BBS genes (BBS6, BBS10, and BBS12) have homology to type II chaperonins and interact with CCT/TRiC proteins and BBS7 to form a complex termed the BBS-chaperonin complex. 22500027 2012