Disease: Hennekam lymphangiectasia-lymphedema syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340834
Disease: Hennekam lymphangiectasia-lymphedema syndrome
Hennekam lymphangiectasia-lymphedema syndrome 		0.610 GeneticVariation disease BEFREE VEGFC processing is also affected by CCBE1 mutations that cause the Hennekam lymphangiectasia-lymphedema syndrome syndrome type1. 28985353 2017
CUI: C0340834
Disease: Hennekam lymphangiectasia-lymphedema syndrome
Hennekam lymphangiectasia-lymphedema syndrome 		0.610 Biomarker disease CTD_human Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. 19911200 2010
CUI: C0340834
Disease: Hennekam lymphangiectasia-lymphedema syndrome
Hennekam lymphangiectasia-lymphedema syndrome 		0.610 GermlineCausalMutation disease ORPHANET Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. 19935664 2009
CUI: C0340834
Disease: Hennekam lymphangiectasia-lymphedema syndrome
Hennekam lymphangiectasia-lymphedema syndrome 		0.610 Biomarker disease CTD_human Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. 19935664 2009
CUI: C0340834
Disease: Hennekam lymphangiectasia-lymphedema syndrome
Hennekam lymphangiectasia-lymphedema syndrome 		0.610 Biomarker disease GENOMICS_ENGLAND