Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 857
Gene Symbol: CAV1
CAV1
CUI: C3807567
Disease: PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME
PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME 		0.600 Biomarker GENOMICS_ENGLAND Caveolin-1 deficiency leads to increased susceptibility to cell death and fibrosis in white adipose tissue: characterization of a lipodystrophic model. 23049990

2012
Entrez Id: 857
Gene Symbol: CAV1
CAV1
CUI: C3807567
Disease: PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME
PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME 		0.600 Biomarker GENOMICS_ENGLAND Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. 18211975

2008
Entrez Id: 857
Gene Symbol: CAV1
CAV1
CUI: C3807567
Disease: PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME
PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME 		0.600 Biomarker CTD_human