Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.100 GeneticVariation disease GWASCAT A genome-wide analysis of the response to inhaled β2-agonists in chronic obstructive pulmonary disease. 26503814 2016
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		0.010 AlteredExpression disease BEFREE HSCR tissue specimens (n = 6) were collected at the time of pull-through surgery, while control samples were obtained at the time of colostomy closure in patients with imperforate anus (n = 6). qRT-PCR analysis was undertaken to quantify KCNG3 and KCNG4 gene expression, and immunolabelling of KCNG3 and KCNG4 proteins was visualized using confocal microscopy. 30386900 2019
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.010 AlteredExpression disease BEFREE KCNG3 and KCNG4 downregulation within ganglionic specimens highlights the physiologically abnormal nature of this segment in HSCR patients. 30386900 2019
CUI: C0678213
Disease: Complete hydatidiform mole
Complete hydatidiform mole 		0.010 GeneticVariation disease BEFREE Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women. 29088863 2017