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 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: 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: 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: 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: 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 BEFREE We sequenced 6 exons of the MARVELD2 gene in a group of 143 unrelated hearing impaired Slovak Roma patients. 25885414 2015
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: C1384666
Disease: hearing impairment
hearing impairment 		0.420 GeneticVariation phenotype CLINVAR
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: 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: 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: 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: 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: 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: 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: 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