RBM12, RNA binding motif protein 12, 10137

N. diseases: 17; N. variants: 11
Disease: Nonorganic psychosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781720548
rs781720548
Entrez Id: 8904;10137
Gene Symbol: CPNE1;RBM12
CPNE1;RBM12
CUI: C0349204
Disease:
Nonorganic psychosis 		0.010 GeneticVariation BEFREE We replicated the association in a Finnish family in which a second RBM12 truncating mutation (c.2532delT) segregates with psychosis (P = 0.020). c.2377G>T is not fully penetrant for psychosis; however, we found that carriers unaffected by psychosis resemble patients with schizophrenia in their non-psychotic psychiatric disorder and neuropsychological test profile (P = 0.0043) as well as in their life outcomes (including an increased chance of receiving disability benefits, P = 0.011). 28628109 2017