EPHB4, EPH receptor B4, 2050

N. diseases: 157; N. variants: 27
Disease: LYMPHATIC MALFORMATION 7 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310629
Disease: LYMPHATIC MALFORMATION 7
LYMPHATIC MALFORMATION 7 		0.700 Biomarker disease GENOMICS_ENGLAND Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly. 29905864 2018
CUI: C4310629
Disease: LYMPHATIC MALFORMATION 7
LYMPHATIC MALFORMATION 7 		0.700 GeneticVariation disease UNIPROT EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis. 27400125 2016
CUI: C4310629
Disease: LYMPHATIC MALFORMATION 7
LYMPHATIC MALFORMATION 7 		0.700 Biomarker disease GENOMICS_ENGLAND EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis. 27400125 2016
CUI: C4310629
Disease: LYMPHATIC MALFORMATION 7
LYMPHATIC MALFORMATION 7 		0.700 Biomarker disease CTD_human
CUI: C4310629
Disease: LYMPHATIC MALFORMATION 7
LYMPHATIC MALFORMATION 7 		0.700 CausalMutation disease CLINVAR