6-pyruvoyl-tetrahydropterin synthase deficiency

Disease Term Disease ID Gene Symbol Classification References Source
6-pyruvoyl-tetrahydropterin synthase deficiency 13, C0878676 PTS Causal Pathogenic evidence from ClinVar 3297709, 7493990, 7698774, 8178819, 8707300, 8801112, 9159737, 9222757, 9450907, 10220141, 10319579, 10531334, 10585341, 10874306, 11388593, 11438997, 11517215, 11694255, 11916314, 16917893, 17160954, 18505119, 19234759, 19280650, 19350512, 20059486, 21542064, 21933604, 22237589, 23138986, 23942198, 25304915, 25456745, 25525159, 25758715, 26919687, 27246466, 27604308, 27629047, 27830117 ClinVar
GCH1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -