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
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
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.600 Biomarker disease CTD_human Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. 19911200 2010
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.600 Biomarker disease GENOMICS_ENGLAND Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia. 12794699 2003
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.600 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 GeneticVariation group BEFREE The patient we describe here has a lymphatic dysplasia without intellectual disability or dysmorphism caused by mutation in CCBE1, highlighting the phenotypic variability that can be seen with abnormalities in this gene. 25925991 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group CTD_human Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. 19935664 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group HPO
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.300 Biomarker disease CTD_human Computational Discovery of Niclosamide Ethanolamine, a Repurposed Drug Candidate That Reduces Growth of Hepatocellular Carcinoma Cells In Vitro and in Mice by Inhibiting Cell Division Cycle 37 Signaling. 28284560 2017
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		0.300 Biomarker disease CTD_human Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. 19911200 2010
CUI: C0455990
Disease: Immune Hydrops Fetalis
Immune Hydrops Fetalis 		0.300 Biomarker disease CTD_human Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. 19911200 2010
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. 19935664 2009
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. 19935664 2009