Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.300 Biomarker disease CTD_human Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene. 16885183 2006
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		0.010 GeneticVariation disease BEFREE We report a Chinese male infant with BDN and indirect inguinal hernia, in whom a novel de novo mutation in COL7A1 was demonstrated. 25800346 2015
Entrez Id: 6926
Gene Symbol: TBX3
TBX3 		0.010 Biomarker disease BEFREE We speculated that TBX3 may be involved in the IIH formation. 25455105 2015
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		0.010 GeneticVariation disease BEFREE In this study, the human TBX1 gene promoter was genetically analyzed in children with IIH (n=100) and ethnic-matched controls (n=167). 24295890 2014
Entrez Id: 23411
Gene Symbol: SIRT1
SIRT1 		0.010 AlteredExpression disease BEFREE Therefore, our data suggested that these DSVs may alter the transcriptional activities of SIRT1 gene promoter and change SIRT1 levels, contributing to IIH development as risk factors. 24875419 2014
Entrez Id: 6909
Gene Symbol: TBX2
TBX2 		0.010 AlteredExpression disease BEFREE Therefore, we speculated that altered TBX2 gene expression may be involved in the IIH formation. 24309999 2014
Entrez Id: 2627
Gene Symbol: GATA6
GATA6 		0.010 GeneticVariation disease BEFREE Therefore, the DSVs within the GATA6 gene promoter may contribute to the IIH development as a risk factor by changing the GATA6 levels. 24949533 2014