Disease: Pseudohypoaldosteronism, Type II ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1449844
Disease: Pseudohypoaldosteronism, Type II
Pseudohypoaldosteronism, Type II 		0.040 GeneticVariation disease BEFREE Heterozygous mutations in PIEZO2 may lead to other phenotypes like Gordon Syndrome and Marden Walker syndrome. 30938034 2019
CUI: C1449844
Disease: Pseudohypoaldosteronism, Type II
Pseudohypoaldosteronism, Type II 		0.040 GeneticVariation disease BEFREE Therefore, the objective of the present study was to systematically assess the effect of different pathological mutations of PIEZO2 on transcription, translation, as well as protein structure and function that contribute to GS/DA3, DA5, MWS and associated diseases based on a bioinformatics analysis using the Pubmed, ClinVar, RaptorX and Phyre2 online databases. 30988732 2019
CUI: C1449844
Disease: Pseudohypoaldosteronism, Type II
Pseudohypoaldosteronism, Type II 		0.040 GeneticVariation disease BEFREE Familial Gordon syndrome associated with a PIEZO2 mutation. 27714920 2017
CUI: C1449844
Disease: Pseudohypoaldosteronism, Type II
Pseudohypoaldosteronism, Type II 		0.040 GeneticVariation disease BEFREE Exome sequencing of five GS-affected families identified mutations in piezo-type mechanosensitive ion channel component 2 (PIEZO2) in each family. 24726473 2014