TMEM114, transmembrane protein 114, 283953

N. diseases: 5; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.100 GeneticVariation disease GWASDB A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. 17632509 2007
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		0.100 GeneticVariation disease GWASDB A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. 17632509 2007
CUI: C0086543
Disease: Cataract
Cataract 		0.020 Biomarker disease BEFREE The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members. 21689651 2011
CUI: C0086543
Disease: Cataract
Cataract 		0.020 Biomarker disease BEFREE Our findings implicate dysregulation of expression of this novel human gene, TMEM114, in mammalian cataract formation. 17492639 2007
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.010 Biomarker disease BEFREE Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation. 17492639 2007