Disease: Hyperphenylalaninemia with primapterinuria ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894172
rs104894172
Entrez Id: 5092
Gene Symbol: PCBD1
PCBD1
CUI: C1849700
Disease:
Hyperphenylalaninemia with primapterinuria 		A 0.700 GeneticVariation CLINVAR Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting. 24204001 2014
dbSNP: rs104894172
rs104894172
Entrez Id: 5092
Gene Symbol: PCBD1
PCBD1
CUI: C1849700
Disease:
Hyperphenylalaninemia with primapterinuria 		A 0.700 GeneticVariation CLINVAR Disease variants in genomes of 44 centenarians. 25333069 2014
dbSNP: rs104894172
rs104894172
Entrez Id: 5092
Gene Symbol: PCBD1
PCBD1
CUI: C1849700
Disease:
Hyperphenylalaninemia with primapterinuria 		A 0.700 GeneticVariation 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
dbSNP: rs104894172
rs104894172
Entrez Id: 5092
Gene Symbol: PCBD1
PCBD1
CUI: C1849700
Disease:
Hyperphenylalaninemia with primapterinuria 		A 0.700 GeneticVariation CLINVAR Characterization of the wild-type form of 4a-carbinolamine dehydratase and two naturally occurring mutants associated with hyperphenylalaninemia. 8618906 1995
dbSNP: rs104894172
rs104894172
Entrez Id: 5092
Gene Symbol: PCBD1
PCBD1
CUI: C1849700
Disease:
Hyperphenylalaninemia with primapterinuria 		A 0.700 GeneticVariation CLINVAR Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. 8352282 1993
dbSNP: rs104894172
rs104894172
Entrez Id: 5092
Gene Symbol: PCBD1
PCBD1
CUI: C1849700
Disease:
Hyperphenylalaninemia with primapterinuria 		A 0.700 CausalMutation CLINVAR