Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
0.040 GeneticVariation disease BEFREE Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder caused by defective activity of biotinidase or holocarboxylase synthetase (HLCS) in the biotin cycle. 20095979 2010
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
0.040 AlteredExpression disease BEFREE In MCD, it is possible that some of the manifestations of the disease may be associated with down-regulation of biotin utilization in liver because of the impaired activity of HCS and that high dose biotin therapy may in part be important to overcoming the adverse regulatory impact in such organs. 15456772 2004
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
0.040 GeneticVariation disease BEFREE We demonstrate that the mutations identified in the MCD patients are indeed responsible for their reduced HCS activity. 10068510 1999
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
0.040 GeneticVariation disease BEFREE We have identified six different point mutations in the HCS gene in nine patients with MCD. 8817339 1996