Disease: Hyperphenylalaninaemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		0.130 GeneticVariation disease BEFREE To set up a fast and comprehensive assay in order to achieve early etiological diagnosis and differential diagnosis for children with HPA, we designed a custom AmpliSeq™ panel for the sequencing of coding DNA sequence (CDS), flanking introns, 5' untranslated region (UTR) and 3' UTR from five HPA-causing genes (PAH, PTS, QDPR, GCH1, and PCBD1) using the Ion Torrent Personal Genome Machine (PGM) Sequencer. 25456745 2014
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		0.130 Biomarker disease BEFREE Hyperphenylalaninemia and impaired glucose tolerance in mice lacking the bifunctional DCoH gene. 12011081 2002
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		0.130 GeneticVariation disease BEFREE Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia. 9760199 1998
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		0.130 Biomarker disease HPO