TINF2, TERF1 interacting nuclear factor 2, 26277

N. diseases: 158; N. variants: 20
Disease: Exudative retinopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0154832
Disease: Exudative retinopathy
Exudative retinopathy 		0.110 GeneticVariation disease BEFREE Revesz syndrome, a subtype of dyskeratosis congenita (DC) caused by TINF2 mutation, combines marrow failure with exudative retinopathy, intracranial calcifications, and neurocognitive impairment. 25067791 2014
CUI: C0154832
Disease: Exudative retinopathy
Exudative retinopathy 		0.110 Biomarker disease HPO