Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7360
Gene Symbol: UGP2
UGP2
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		0.300 Biomarker GENOMICS_ENGLAND Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. 31820119

2020