CNTN4, contactin 4, 152330

N. diseases: 58; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
0.020 Biomarker disease BEFREE In addition the CHL1 gene, mapping at 3p26.3 distally to CRBN and CNTN4, was proposed as candidate gene for a non specific mental retardation because of its high level of expression in the brain. 21457564 2011
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
0.020 Biomarker disease BEFREE FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions. 17036314 2006