PRR12, proline rich 12, 57479

N. diseases: 35; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.320 Biomarker group GENOMICS_ENGLAND Recently, a de novo t(10;19) (q22.3;q13.33) translocation disrupting the PRR12 gene was detected in a girl with intellectual disability and neuropsychiatric alterations. 29556724 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.320 GeneticVariation group BEFREE Recently, a de novo t(10;19) (q22.3;q13.33) translocation disrupting the PRR12 gene was detected in a girl with intellectual disability and neuropsychiatric alterations. 29556724 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.320 GeneticVariation group BEFREE A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations. 26163108 2015