Hyperphenylalaninemia

Disease Term Disease ID Gene Symbol Classification References Source
Hyperphenylalaninemia due to DNAJC12 deficiency 508523 DNAJC12 Causal Pathogenic evidence from ClinVar - ClinVar
HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT C4479270 DNAJC12 Causal Pathogenic evidence from ClinVar 28132689 ClinVar
Hyperphenylalaninaemia C0751435 PAH Causal Pathogenic evidence from ClinVar 8533759, 8659548, 9298832, 9634518, 10479481, 12501224, 16198137, 17096675, 17935162, 18294361, 18299955, 19292873, 21147011, 22698810, 23357515, 23430547, 23500595, 23764561, 23792259, 24350308, 24368688, 24401910, 25596310, 26503515, 26666653 ClinVar
PTS Causal Pathogenic evidence from ClinVar - ClinVar
GCH1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PCBD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
QDPR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25526675 -
Hyperphenylalaninemia, Non-Phenylketonuric C0751436 PAH Causal Pathogenic evidence from ClinVar - ClinVar
QDPR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25526675 -
Hyperphenylalaninemia, Non-Pku Mild C2678416 PAH Causal Pathogenic evidence from ClinVar - ClinVar
Mild hyperphenylalaninemia 79651 PAH Causal Pathogenic evidence from ClinVar - ClinVar
Hyperphenylalaninemia, BH4-Deficient, B C0268467 GCH1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7501255, 7874165, 8619546, 8852666, 9667588, 9749603, 10457396, 10496263, 10984670, 11486899, 15303002, 15753436, 16917893, 17101830, 17898029, 18276179, 19332422, 19491146, 20082337, 20108370, 20491893, 20842687, 21935284, 23211702, 27246466, 27604308, 27830117 -
Hyperphenylalaninemia with primapterinuria C1849700 PCBD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8352282, 8618906, 9585615, 9760199, 24204001, 24848070, 25333069, 27246466, 27604308 -
Pterin-4 alpha-carbinolamine dehydratase deficiency 1578 PCBD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -