PDLIM5, PDZ and LIM domain 5, 10611

N. diseases: 148; N. variants: 19
Disease: Fragile X Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.010 Biomarker disease BEFREE We previously found that the activation of LIM kinase 1 (LIMK1) downstream of augmented synthesis of bone morphogenetic protein (BMP) type 2 receptor (BMPR2) promotes aberrant synaptic development in mouse and <i>Drosophila</i> models of FXS and that these molecular and cellular markers were correlated in patients with FXS. 28465421 2017