Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849700
Disease: Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemia with primapterinuria 		0.710 CausalMutation disease CLINVAR Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients. 27246466 2017
CUI: C1849700
Disease: Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemia with primapterinuria 		0.710 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1849700
Disease: Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemia with primapterinuria 		0.710 GeneticVariation disease CLINVAR Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting. 24204001 2014
CUI: C1849700
Disease: Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemia with primapterinuria 		0.710 GeneticVariation disease BEFREE Of seven PCBD1 mutations previously reported in HPABH4D patients, five mutations caused proteolytic instability, leading to reduced FXYD2 promoter activity. 24204001 2014
CUI: C1849700
Disease: Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemia with primapterinuria 		0.710 Biomarker disease GENOMICS_ENGLAND Recessive mutations in PCBD1 cause a new type of early-onset diabetes. 24848070 2014
CUI: C1849700
Disease: Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemia with primapterinuria 		0.710 GeneticVariation disease CLINVAR Disease variants in genomes of 44 centenarians. 25333069 2014
CUI: C1849700
Disease: Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemia with primapterinuria 		0.710 GeneticVariation disease UNIPROT Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia. 9760199 1998
CUI: C1849700
Disease: Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemia with primapterinuria 		0.710 GermlineCausalMutation disease ORPHANET Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia. 9760199 1998
CUI: C1849700
Disease: Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemia with primapterinuria 		0.710 Biomarker disease GENOMICS_ENGLAND Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH). 9585615 1998
CUI: C1849700
Disease: Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemia with primapterinuria 		0.710 GeneticVariation disease CLINVAR Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH). 9585615 1998
CUI: C1849700
Disease: Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemia with primapterinuria 		0.710 GeneticVariation disease CLINVAR Characterization of the wild-type form of 4a-carbinolamine dehydratase and two naturally occurring mutants associated with hyperphenylalaninemia. 8618906 1995
CUI: C1849700
Disease: Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemia with primapterinuria 		0.710 GeneticVariation disease CLINVAR Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. 8352282 1993
CUI: C1849700
Disease: Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemia with primapterinuria 		0.710 GeneticVariation disease UNIPROT Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. 8352282 1993
CUI: C1849700
Disease: Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemia with primapterinuria 		0.710 Biomarker disease GENOMICS_ENGLAND Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. 8352282 1993
CUI: C1849700
Disease: Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemia with primapterinuria 		0.710 Biomarker disease CTD_human
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.300 Biomarker disease CTD_human c-Myc targeted regulators of cell metabolism in a transgenic mouse model of papillary lung adenocarcinoma. 27602772 2016
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
CUI: C0268464
Disease: Transient hyperphenylalaninemia
Transient hyperphenylalaninemia 		0.110 GeneticVariation disease BEFREE Mutations in PCBD1 are causative for transient neonatal hyperphenylalaninemia and primapterinuria (HPABH4D). 24204001 2014
CUI: C0268464
Disease: Transient hyperphenylalaninemia
Transient hyperphenylalaninemia 		0.110 Biomarker disease HPO
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO