Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 111674464
Gene Symbol: LOC111674464
LOC111674464
0.010 GeneticVariation disease BEFREE Two different diseases are associated with alteration in the DNA sequence of <i>PIEZO1</i>: (i) dehydrated hereditary stomatocytosis (DHS1, #194380), an autosomal dominant hemolytic anemia caused by gain-of-function mutations; (ii) lymphatic dysplasia with non-immune fetal hydrops (LMPH3, #616843), an autosomal recessive condition caused by biallelic loss-of-function mutations. 30930797 2019