PDLIM3, PDZ and LIM domain 3, 27295

N. diseases: 118; N. variants: 4
Disease: Dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.010 GeneticVariation disease BEFREE Patients with the p.F327L compound heterozygous mutation had the different non-lethal type with short stature and a gradual improvement in ALP level and bone mineralisation. 24276437 2014