Disease: LYMPHATIC MALFORMATION 6 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225184
Disease: LYMPHATIC MALFORMATION 6
LYMPHATIC MALFORMATION 6 		0.700 Biomarker disease GENOMICS_ENGLAND Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. 30712880 2019
CUI: C4225184
Disease: LYMPHATIC MALFORMATION 6
LYMPHATIC MALFORMATION 6 		0.700 Biomarker disease GENOMICS_ENGLAND Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia. 26387913 2015
CUI: C4225184
Disease: LYMPHATIC MALFORMATION 6
LYMPHATIC MALFORMATION 6 		0.700 GeneticVariation disease UNIPROT Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. 26333996 2015
CUI: C4225184
Disease: LYMPHATIC MALFORMATION 6
LYMPHATIC MALFORMATION 6 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. 22529292 2012
CUI: C4225184
Disease: LYMPHATIC MALFORMATION 6
LYMPHATIC MALFORMATION 6 		0.700 Biomarker disease CTD_human
CUI: C4225184
Disease: LYMPHATIC MALFORMATION 6
LYMPHATIC MALFORMATION 6 		0.700 GeneticVariation disease CLINVAR