TMEM79, transmembrane protein 79, 84283

N. diseases: 8; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		0.240 GeneticVariation disease BEFREE Over 30 genes have been linked to AD/AE with Flg and Tmem79/Matt alterations being common. 28355943 2018
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		0.240 Biomarker disease BEFREE The authors describe that it is the combination of changes in the skin barrier proteins filaggrin and Tmem79, together with Th2 cytokine signaling in the constitutively active Stat6 transgene, that drives the immune-pathomechanism in AD. 27813070 2016
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		0.240 Biomarker disease BEFREE Although best known are mutations in filaggrin (FLG), mutations in other member of the fused S-100 family of proteins (ie, hornerin [hrn] and filaggrin 2 [flg-2]); the cornified envelope precursor (ie, SPRR3); mattrin, which is encoded by TMEM79 and regulates the assembly of lamellar bodies; SPINK5, which encodes the serine protease inhibitor lymphoepithelial Kazal-type trypsin inhibitor type 1; and the fatty acid transporter fatty acid transport protein 4 have all been linked to AD. 25131691 2014
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		0.240 GeneticVariation disease BEFREE Meta-analysis of 4,245 AD cases and 10,558 population-matched control subjects showed that a missense SNP, rs6684514, [corrected] in the human MATT gene has a small but significant association with AD. 24084074 2013
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		0.240 Biomarker disease MGD Meta-analysis of 4,245 AD cases and 10,558 population-matched control subjects showed that a missense SNP, rs6684514, [corrected] in the human MATT gene has a small but significant association with AD. 24084074 2013
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		0.240 Biomarker disease MGD A homozygous nonsense mutation in the gene for Tmem79, a component for the lamellar granule secretory system, produces spontaneous eczema in an experimental model of atopic dermatitis. 24060273 2013
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978 2010
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978 2010
CUI: C0013595
Disease: Eczema
Eczema 		0.040 GeneticVariation disease BEFREE Over 30 genes have been linked to AD/AE with Flg and Tmem79/Matt alterations being common. 28355943 2018
CUI: C0013595
Disease: Eczema
Eczema 		0.040 Biomarker disease BEFREE The authors describe that it is the combination of changes in the skin barrier proteins filaggrin and Tmem79, together with Th2 cytokine signaling in the constitutively active Stat6 transgene, that drives the immune-pathomechanism in AD. 27813070 2016
CUI: C0013595
Disease: Eczema
Eczema 		0.040 Biomarker disease BEFREE Although best known are mutations in filaggrin (FLG), mutations in other member of the fused S-100 family of proteins (ie, hornerin [hrn] and filaggrin 2 [flg-2]); the cornified envelope precursor (ie, SPRR3); mattrin, which is encoded by TMEM79 and regulates the assembly of lamellar bodies; SPINK5, which encodes the serine protease inhibitor lymphoepithelial Kazal-type trypsin inhibitor type 1; and the fatty acid transporter fatty acid transport protein 4 have all been linked to AD. 25131691 2014
CUI: C0013595
Disease: Eczema
Eczema 		0.040 GeneticVariation disease BEFREE Meta-analysis of 4,245 AD cases and 10,558 population-matched control subjects showed that a missense SNP, rs6684514, [corrected] in the human MATT gene has a small but significant association with AD. 24084074 2013
CUI: C0011603
Disease: Dermatitis
Dermatitis 		0.010 GeneticVariation disease BEFREE To test this, we mated mice with T-cell specific expression of constitutively active Stat6 (Stat6VT) that spontaneously develop allergic skin inflammation with Flaky tail (Ft) mice that have mutations in Flg and Tmem79 genes that each affect skin barrier function. 27510401 2016
CUI: C3875321
Disease: Inflammatory dermatosis
Inflammatory dermatosis 		0.010 GeneticVariation disease BEFREE To test this, we mated mice with T-cell specific expression of constitutively active Stat6 (Stat6VT) that spontaneously develop allergic skin inflammation with Flaky tail (Ft) mice that have mutations in Flg and Tmem79 genes that each affect skin barrier function. 27510401 2016
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 Biomarker disease BEFREE Our data provides a starting point for further functional studies to explore the molecular repertoire of normal and diseased prostate including potential prostate cancer markers such as TMEM79 and ACOXL. 26237329 2015
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 Biomarker disease BEFREE Our data provides a starting point for further functional studies to explore the molecular repertoire of normal and diseased prostate including potential prostate cancer markers such as TMEM79 and ACOXL. 26237329 2015