Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931826
Disease: Potassium aggravated myotonia
Potassium aggravated myotonia
0.090 GeneticVariation disease BEFREE Pulmonary alveolar microlithiasis (PAM) is caused by genetic variants in the <i>SLC34A2</i> gene, which encodes the sodium-dependent phosphate transport protein 2B. 31831582 2020
CUI: C2931826
Disease: Potassium aggravated myotonia
Potassium aggravated myotonia
0.090 GeneticVariation disease BEFREE Mutations in the SLC34A2 gene encoding the type IIb sodium phosphate cotransporter in alveolar type II cells are considered to be involved in the pathogenesis of PAM. 30904891 2019
CUI: C2931826
Disease: Potassium aggravated myotonia
Potassium aggravated myotonia
0.090 GeneticVariation disease BEFREE Mutations in the gene encoding the solute carrier family 34 member 2 gene are considered to be involved in the pathogenesis of PAM. 29434686 2018
CUI: C2931826
Disease: Potassium aggravated myotonia
Potassium aggravated myotonia
0.090 GeneticVariation disease BEFREE Based on our findings it is possible that the SLC34A2 gene mutation is the cause of the pathogenic changes observed in PAM patients, given that the function of the phosphate transporter seems to be affected and it is conceivable that it would lead to extracellular fluid alterations <i>in vivo</i>. 29375690 2018
CUI: C2931826
Disease: Potassium aggravated myotonia
Potassium aggravated myotonia
0.090 GeneticVariation disease BEFREE PAM is pathologically attributable to the formation and aggregation of calcium phosphate microliths in the alveoli after mutations in the SLC34A2 gene (the type IIb sodium-phosphate cotransporter gene) coding NaPi-IIb. 24817643 2014
CUI: C2931826
Disease: Potassium aggravated myotonia
Potassium aggravated myotonia
0.090 GeneticVariation disease BEFREE The review of the SLC34A2 gene mutation showed multiple mutation symbols in PAM patients from China, Turkey, and Japan respectively. 23164546 2013
CUI: C2931826
Disease: Potassium aggravated myotonia
Potassium aggravated myotonia
0.090 GeneticVariation disease BEFREE PAM has been reported to arise from inactivating mutations in SLC34A2, encoding a sodium-dependent phosphate co-transporter essential for phosphate transport in the lungs and small intestine. 20960258 2010
CUI: C2931826
Disease: Potassium aggravated myotonia
Potassium aggravated myotonia
0.090 GeneticVariation disease BEFREE The demonstration of a mutation in the SLC34A2 gene helps to confirm the diagnosis of PAM. 19617834 2009
CUI: C2931826
Disease: Potassium aggravated myotonia
Potassium aggravated myotonia
0.090 GeneticVariation disease BEFREE We first identified a PAM locus by homozygosity mapping to 4p15, then identified, by a candidate-gene approach, the gene responsible for the disease as SLC34A2 (the type IIb sodium-phosphate cotransporter gene), which is involved in phosphate homeostasis in several organs. 16960801 2006