Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3308
Gene Symbol: HSPA4
HSPA4
0.010 Biomarker phenotype BEFREE Autosomal recessive mutations in <i>DNAJC12</i>, encoding a cochaperone of HSP70 with hitherto unknown function, were recently described to lead to hyperphenylalaninemia, central monoamine neurotransmitter (dopamine and serotonin) deficiency, dystonia and intellectual disability in six subjects affected by homozygous variants. 28794131 2017