PDLIM5, PDZ and LIM domain 5, 10611

N. diseases: 148; N. variants: 19
Disease: Nail-Patella Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027341
Disease: Nail-Patella Syndrome
Nail-Patella Syndrome 		0.030 GeneticVariation disease BEFREE A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B. 29290531 2018
CUI: C0027341
Disease: Nail-Patella Syndrome
Nail-Patella Syndrome 		0.030 AlteredExpression disease BEFREE Recently, LMX1B , a transcription factor of the LIM-homeodomain type with homologs that are important for limb development in vertebrates, was mapped to the same general location as NPS at 9q34. 9618165 1998
CUI: C0027341
Disease: Nail-Patella Syndrome
Nail-Patella Syndrome 		0.030 GeneticVariation disease BEFREE Recent evidence shows that NPS is the result of mutations in the LIM-homeodomain gene LMX1B. 9837817 1998