PDZD7, PDZ domain containing 7, 79955

N. diseases: 45; N. variants: 10
Disease: Retinal Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.020 Biomarker group BEFREE However, subsequent clinical reports have associated PDZD7 with digenic Usher syndrome, the most common cause of deaf-blindness, or as a modifier of retinal disease. 26849169 2018
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.020 Biomarker group BEFREE We validated the human genotypes using zebrafish, and our findings were consistent with digenic inheritance of PDZD7 and GPR98, and with PDZD7 as a retinal disease modifier in patients with USH2A. 20440071 2010