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: C1857811
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 49
DEAFNESS, AUTOSOMAL RECESSIVE 49 		0.810 Biomarker disease GENOMICS_ENGLAND
CUI: C1857811
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 49
DEAFNESS, AUTOSOMAL RECESSIVE 49 		0.810 Biomarker disease CTD_human
CUI: C1857811
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 49
DEAFNESS, AUTOSOMAL RECESSIVE 49 		0.810 GeneticVariation disease CLINVAR
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.420 GeneticVariation phenotype CLINVAR
CUI: C0011053
Disease: Deafness
Deafness 		0.100 CausalMutation phenotype CLINVAR
CUI: C4017220
Disease: DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 49
DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 49 		0.100 CausalMutation disease CLINVAR
CUI: C4021806
Disease: Prelingual sensorineural hearing impairment
Prelingual sensorineural hearing impairment 		0.100 Biomarker disease HPO
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 GeneticVariation disease BEFREE The mapping of DFNB49 further confirms the heterogeneity underlying autosomal recessive forms of nonsyndromic deafness. 15538632 2005
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.010 GeneticVariation disease BEFREE Cosegregation of markers on chromosome 5q12.3-q14.1 with profound congenital deafness in two Pakistani families (PKDF041 and PKDF141) defines a new recessive deafness locus, DFNB49. 15538632 2005
CUI: C1857811
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 49
DEAFNESS, AUTOSOMAL RECESSIVE 49 		0.810 GeneticVariation disease BEFREE We show that, in humans, four different recessive mutations of TRIC cause nonsyndromic deafness (DFNB49), a surprisingly limited phenotype, given the widespread tissue distribution of tricellulin in epithelial cells. 17186462 2006
CUI: C1857811
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 49
DEAFNESS, AUTOSOMAL RECESSIVE 49 		0.810 CausalMutation disease CLINVAR Tricellulin is a tight-junction protein necessary for hearing. 17186462 2006
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 GeneticVariation disease BEFREE We show that, in humans, four different recessive mutations of TRIC cause nonsyndromic deafness (DFNB49), a surprisingly limited phenotype, given the widespread tissue distribution of tricellulin in epithelial cells. 17186462 2006
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN We show that, in humans, four different recessive mutations of TRIC cause nonsyndromic deafness (DFNB49), a surprisingly limited phenotype, given the widespread tissue distribution of tricellulin in epithelial cells. 17186462 2006
CUI: C1857811
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 49
DEAFNESS, AUTOSOMAL RECESSIVE 49 		0.810 Biomarker disease GENOMICS_ENGLAND Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families. 18084694 2008
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.420 Biomarker phenotype GENOMICS_ENGLAND It is estimated that 1.06% (95% confidence interval 0.02-3.06%) of families with ARNSHI in Pakistan manifest HI due to mutations in the TRIC gene. 18084694 2008
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.420 GeneticVariation phenotype BEFREE It is estimated that 1.06% (95% confidence interval 0.02-3.06%) of families with ARNSHI in Pakistan manifest HI due to mutations in the TRIC gene. 18084694 2008
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families. 18084694 2008
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 GeneticVariation disease BEFREE Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families. 18084694 2008
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 AlteredExpression disease BEFREE We examined the effects of Snail, an epithelial-mesenchymal transition (EMT)-related transcription factor, on the regulation of tricellulin expression in human gastric carcinoma (GC)-derived cells. 20332670 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE Claudin-7 and tricellulin were markedly reduced at all stages of tumor development. 21480761 2011
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 Biomarker phenotype BEFREE Altered expression of claudin-1, claudin-7, and tricellulin in early tonsillar squamous cell carcinoma (SCC) independent of human papilloma virus (HPV) infection may lead to tumor progression. 21480761 2011
CUI: C0280317
Disease: Squamous cell carcinoma of tonsil
Squamous cell carcinoma of tonsil 		0.010 AlteredExpression disease BEFREE Compared with normal tissues, claudin-1 was strongly expressed, whereas claudin-7 and tricellulin were weakly expressed or were absent in primary SCC and metastatic lymph nodes. 21480761 2011
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection 		0.010 Biomarker disease BEFREE Altered expression of claudin-1, claudin-7, and tricellulin regardless of human papilloma virus infection in human tonsillar squamous cell carcinoma. 21480761 2011
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