Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		0.900 GeneticVariation UNIPROT Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity. 16675967

2006
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		0.900 GeneticVariation UNIPROT ABCA12 is the major harlequin ichthyosis gene. 16902423

2006