Disease: Pulmonary Alveolar Microlithiasis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0155912
Disease: Pulmonary Alveolar Microlithiasis
Pulmonary Alveolar Microlithiasis 		0.780 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: C0155912
Disease: Pulmonary Alveolar Microlithiasis
Pulmonary Alveolar Microlithiasis 		0.780 GeneticVariation disease BEFREE Biallelic inactivating SLC34A2 mutations are found in patients with pulmonary alveolar microlithiasis, a lung disease characterized by the deposition of microcrystals. 30542787 2019
CUI: C0155912
Disease: Pulmonary Alveolar Microlithiasis
Pulmonary Alveolar Microlithiasis 		0.780 GeneticVariation disease BEFREE A mutation in the IIb sodium phosphate transporter SLC34A2 gene has recently been described in pulmonary alveolar microlithiasis (PAM) patients. 29375690 2018
CUI: C0155912
Disease: Pulmonary Alveolar Microlithiasis
Pulmonary Alveolar Microlithiasis 		0.780 GermlineCausalMutation disease ORPHANET SLC34A2 Gene mutation of pulmonary alveolar microlithiasis: report of four cases and review of literatures. 23164546 2013
CUI: C0155912
Disease: Pulmonary Alveolar Microlithiasis
Pulmonary Alveolar Microlithiasis 		0.780 GeneticVariation disease BEFREE SLC34A2 Gene mutation of pulmonary alveolar microlithiasis: report of four cases and review of literatures. 23164546 2013
CUI: C0155912
Disease: Pulmonary Alveolar Microlithiasis
Pulmonary Alveolar Microlithiasis 		0.780 GeneticVariation disease BEFREE We present two cases of pulmonary alveolar microlithiasis with different mutations in the SLC34A2 gene that have not been previously described, and a review of the literature. 22941890 2012
CUI: C0155912
Disease: Pulmonary Alveolar Microlithiasis
Pulmonary Alveolar Microlithiasis 		0.780 GermlineCausalMutation disease ORPHANET A frame-shift mutation in the SLC34A2 gene in three patients with pulmonary alveolar microlithiasis in an inbred family. 20046000 2010
CUI: C0155912
Disease: Pulmonary Alveolar Microlithiasis
Pulmonary Alveolar Microlithiasis 		0.780 GeneticVariation disease BEFREE A case of pulmonary alveolar microlithiasis with an intragenetic deletion in SLC34A2 detected by a genome-wide SNP study. 19329736 2009
CUI: C0155912
Disease: Pulmonary Alveolar Microlithiasis
Pulmonary Alveolar Microlithiasis 		0.780 GeneticVariation disease BEFREE Mutations in the SLC34A2 gene that abolish normal gene function cause pulmonary alveolar microlithiasis. 17095743 2007
CUI: C0155912
Disease: Pulmonary Alveolar Microlithiasis
Pulmonary Alveolar Microlithiasis 		0.780 GeneticVariation disease BEFREE Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis. 16960801 2006
CUI: C0155912
Disease: Pulmonary Alveolar Microlithiasis
Pulmonary Alveolar Microlithiasis 		0.780 GeneticVariation disease UNIPROT Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis. 16960801 2006
CUI: C0155912
Disease: Pulmonary Alveolar Microlithiasis
Pulmonary Alveolar Microlithiasis 		0.780 Biomarker disease GENOMICS_ENGLAND Inherited interstitial lung disease. 15331184 2004
CUI: C0155912
Disease: Pulmonary Alveolar Microlithiasis
Pulmonary Alveolar Microlithiasis 		0.780 CausalMutation disease CLINVAR
CUI: C0155912
Disease: Pulmonary Alveolar Microlithiasis
Pulmonary Alveolar Microlithiasis 		0.780 Biomarker disease CTD_human