Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4012050
Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		0.700 Biomarker disease GENOMICS_ENGLAND Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. 24913602 2014
CUI: C4012050
Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		0.700 Biomarker disease CTD_human Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. 19911200 2010
CUI: C4012050
Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. 19911200 2010
CUI: C4012050
Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. 19935664 2009
CUI: C4012050
Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		0.700 Biomarker disease CTD_human Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. 19935664 2009
CUI: C4012050
Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. 19935664 2009
CUI: C4012050
Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		0.700 Biomarker disease GENOMICS_ENGLAND Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia. 12794699 2003
CUI: C4012050
Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4012050
Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		0.700 CausalMutation disease CLINVAR