Gene: SPR ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6697
Gene Symbol: SPR
SPR 		0.100 CausalMutation phenotype CLINVAR Very early pattern of movement disorders in sepiapterin reductase deficiency. 24212389 2013
Entrez Id: 6697
Gene Symbol: SPR
SPR 		0.100 CausalMutation phenotype CLINVAR Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy. 23430877 2012
Entrez Id: 6697
Gene Symbol: SPR
SPR 		0.100 CausalMutation phenotype CLINVAR Whole-genome sequencing for optimized patient management. 21677200 2011
Entrez Id: 6697
Gene Symbol: SPR
SPR 		0.100 CausalMutation phenotype CLINVAR Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant. 21431957 2011
Entrez Id: 6697
Gene Symbol: SPR
SPR 		0.100 CausalMutation phenotype CLINVAR Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. 16917893 2006
Entrez Id: 6697
Gene Symbol: SPR
SPR 		0.100 CausalMutation phenotype CLINVAR Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. 11443547 2001
Entrez Id: 6697
Gene Symbol: SPR
SPR 		0.100 Biomarker phenotype HPO