PDLIM1, PDZ and LIM domain 1, 9124

N. diseases: 25; N. variants: 0
Disease: Congenital Heart Defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.020 Biomarker group BEFREE WS results in visual/spatial processing defects, cognitive impairment, unique behavioral phenotypes, characteristic "elfin" facial features, low muscle tone and heart defects. 22691402 2013
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.020 GeneticVariation group BEFREE Clinical phenotype includes typical facial dysmorphism (elfin face), mental retardation associated with a peculiar neuropsychological profile and congenital heart defects. 17625998 2007