MPP5, membrane palmitoylated protein 5, 64398

N. diseases: 6; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.210 Biomarker disease BEFREE Genetic ablation of Pals1 in retinal progenitor cells models the retinal pathology of Leber congenital amaurosis. 22398208 2012
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.210 Biomarker disease MGD
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 GeneticVariation group BEFREE Novel variants in PATJ (Pals1-associated tight junction) gene were associated with worse functional outcome at 3-month after stroke. 30582445 2019
CUI: C0750974
Disease: Brain Tumor, Primary
Brain Tumor, Primary 		0.010 Biomarker disease BEFREE Liquid Biopsy in Primary Brain Tumors: Looking for Stardust! 29520561 2018
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.010 Biomarker group BEFREE Furthermore, Pals1 haploinsufficiency in mouse kidneys associated with the upregulation of Hippo pathway target genes and marker genes of TGF-<i>β</i> signaling, including biomarkers of renal diseases. 28154200 2017
CUI: C0042798
Disease: Low Vision
Low Vision 		0.010 Biomarker disease BEFREE Remarkably, the Pals1 mutant mouse exhibits the critical features of LCA such as early visual impairment as assessed by electroretinogram, disorganization of lamination and apical junctions and retinal degeneration. 22398208 2012
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.010 GeneticVariation disease BEFREE Remarkably, the Pals1 mutant mouse exhibits the critical features of LCA such as early visual impairment as assessed by electroretinogram, disorganization of lamination and apical junctions and retinal degeneration. 22398208 2012