SPR, sepiapterin reductase, 6697

N. diseases: 90; N. variants: 12
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group GENOMICS_ENGLAND Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. 16650784 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO