Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
1.000 GermlineCausalMutation ORPHANET Sequence analysis of the ABC1 gene revealed that the proband for Tangier disease was homozygous for a deletion of nucleotides 3283 and 3284 (TC) in exon 22. 10535983

1999