PDLIM3, PDZ and LIM domain 3, 27295

N. diseases: 118; N. variants: 4
Disease: Infantile hypophosphatasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		0.020 GeneticVariation disease BEFREE The genotype-phenotype relationship was, to some extent, consistent with the enzymatic activity of the mutant ALP proteins; mutations K207E and G409C found in a surviving case of infantile hypophosphatasia, as well as F310L, retained some residual activities, whereas T1559del caused a complete loss of activity. 15660230 2005
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		0.020 GeneticVariation disease BEFREE This study indicated that the mutation (G1144A) produced the inactive ALP enzyme and would be a disease-causing mutation of the childhood-type HOPS. 12412800 2002