Disease: RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857299
Disease: RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL
RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL 		0.520 GeneticVariation disease BEFREE Previous studies have identified several mutations in the ATOH7 locus in cases of eye developmental diseases such as nonsyndromic congenital retinal nonattachment and persistent hyperplasia of the primary vitreous. 31696227 2020
CUI: C1857299
Disease: RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL
RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL 		0.520 GeneticVariation disease BEFREE To evaluate consanguineous pedigrees from Pakistan with a clinical diagnosis of nonsyndromic congenital retinal nonattachment (NCRNA) and identify genes responsible for the disease as currently only one NCRNA gene is known (atonal basic helix-loop-helix transcription factor 7: ATOH7). 28192794 2017
CUI: C1857299
Disease: RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL
RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL 		0.520 GermlineCausalMutation disease ORPHANET ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. 22645276 2012
CUI: C1857299
Disease: RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL
RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL 		0.520 Biomarker disease CTD_human