Hyperphenylalaninemia, bh4-deficient, b

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Subtype of: Hyperphenylalaninemia
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Hyperphenylalaninemia, BH4-deficient, B
MONDO_0100186
GCH1 Unknown
20301334 25497597 24993959 24509643 21935284 12552057 7730309 17407085 18276179 7869202 31202265 27830117 11113234 20301681 9667588 10208576 3041760 945938 2296384 6734669 3400489 3822637 8163996 10987649 1899474 15753436 10732814 11346370 16908750 7874165 17111153 12084887 3762960 942621 27604308 7501255 12391354 8852666
Open Targets
Hyperphenylalaninemia, BH4-deficient, B, autosomal recessive
MONDO_0100186
GCH1 Unknown
20301334 7730309 27830117 11113234 20301681 9667588 10208576 3041760 945938 2296384 6734669 3400489 7869202 3822637 8163996 12552057 1899474 10987649 15753436 10732814 11346370 16908750 7874165 17111153 12084887 3762960 942621
Open Targets
All1 Causal0 Unknown1
Related Diseases Diseases that share the most curated genes with Hyperphenylalaninemia, bh4-deficient, b.
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GTP cyclohydrolase I deficiency 1 shared geneGCH1 Related via 1 shared gene including GCH1. Dopa-responsive dystonia 1 shared geneGCH1 Related via 1 shared gene including GCH1. Dystonia, dopa-responsive, with or without hyperphenylalaninemia 1 shared geneGCH1 Related via 1 shared gene including GCH1. Dystonia musculorum deformans 1 shared geneGCH1 Related via 1 shared gene including GCH1. Genetic torsion dystonia 1 shared geneGCH1 Related via 1 shared gene including GCH1.