PRR12, proline rich 12, 57479

N. diseases: 35; N. variants: 7
Disease: Abnormality of vision ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		0.400 Biomarker disease GENOMICS_ENGLAND De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. 29556724 2018
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		0.400 CausalMutation disease CLINVAR