Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1 		0.300 GermlineCausalMutation phenotype ORPHANET Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. 22959828 2012
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1 		0.300 GermlineCausalMutation phenotype ORPHANET Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency. 15158913 2004
Entrez Id: 335
Gene Symbol: APOA1
APOA1 		0.300 GermlineCausalMutation phenotype ORPHANET Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia. 8282791 1994
Entrez Id: 335
Gene Symbol: APOA1
APOA1 		0.300 GermlineCausalMutation phenotype ORPHANET Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene. 8240372 1993