GPATCH3, G-patch domain containing 3, 63906

N. diseases: 5; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.010 Biomarker disease BEFREE The GPATCH3 protein was detected in human tissues relevant to glaucoma (e.g., ciliary body). 28397860 2017
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		0.010 Biomarker disease BEFREE In conclusion, our data suggest the existence of high genetic heterogeneity in CG and provide evidence for the role of GPATCH3 in this disease. 28397860 2017
CUI: C0311237
Disease: Goniodysgenesis
Goniodysgenesis 		0.010 AlteredExpression disease BEFREE Morpholino-mediated knockdown and transient overexpression of gpatch3 led to varying degrees of goniodysgenesis and ocular and craniofacial abnormalities, recapitulating some of the features of zebrafish embryos deficient in the glaucoma-related genes pitx2 and foxc1. 28397860 2017
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.010 AlteredExpression group BEFREE Morpholino-mediated knockdown and transient overexpression of gpatch3 led to varying degrees of goniodysgenesis and ocular and craniofacial abnormalities, recapitulating some of the features of zebrafish embryos deficient in the glaucoma-related genes pitx2 and foxc1. 28397860 2017
CUI: C1318881
Disease: Vancomycin intermediate staphylococcus aureus infection
Vancomycin intermediate staphylococcus aureus infection 		0.010 Biomarker disease BEFREE Taking together, our findings demonstrate that GPATCH3 interacts with VISA and disrupts the assembly of virus-induced VISA signalosome therefore acts as a negative regulator of RLR-mediated innate antiviral immune responses. 28414768 2017