PRR12, proline rich 12, 57479

N. diseases: 35; N. variants: 7
Disease: Abnormality iris morphology ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology 		0.310 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: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology 		0.310 GeneticVariation disease BEFREE De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. 29556724 2018