Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.950 GeneticVariation disease BEFREE CLOVES syndrome is associated with somatic mosaic PIK3CA mutations and characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies. 28627003 2017
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.950 GeneticVariation disease BEFREE Phenotype-genotype correlation analysis showed PIK3CA mutation hotspots at residues E542, E545, and H1047 are often associated with CLOVES syndrome, whereas PIK3CA G914R is preferentially related to MCAP. 28502725 2017
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.950 GeneticVariation disease BEFREE This makes us to think that these could be hamartomatous lesions similar to those of the CLOVES syndrome or a PIK3CA mutation. 27575310 2017
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.950 Biomarker disease GENOMICS_ENGLAND Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans. 27030595 2016
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.950 Biomarker disease BEFREE This PIK3CA-associated segmental overgrowth syndrome overlaps with CLOVES syndrome and fibroadipose hyperplasia but is distinct from each of these entities. 24665065 2014
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.950 Biomarker disease GENOMICS_ENGLAND De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224 2012
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.950 GeneticVariation disease BEFREE Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 22658544 2012
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.950 GeneticVariation disease UNIPROT Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 22658544 2012
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.950 SomaticCausalMutation disease ORPHANET Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 22658544 2012
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.950 Biomarker disease GENOMICS_ENGLAND Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome. 19011570 2009
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.950 Biomarker disease CTD_human
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.950 Biomarker disease GENOMICS_ENGLAND
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.950 Biomarker disease MGD
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.950 CausalMutation disease CLINVAR