Phenylketonuria

Disease Term Disease ID Gene Symbol Classification References Source
Classic phenylketonuria 79254 PAH Causal Pathogenic evidence from ClinVar - ClinVar
Classical phenylketonuria C0751434 PAH Causal Pathogenic evidence from ClinVar 1146119, 1301187, 1301193, 1301200, 1301201, 1301942, 1301947, 1307609, 1312992, 1349566, 1349576, 1355066, 1358789, 1363786, 1363837, 1363838, 1563085, 1601425, 1609797, 1639423, 1671768, 1671810, 1671881, 1672290, 1672294, 1679030, 1682234, 1682235, 1709636, 1769645, 1971144, 1971147, 1975096, 1975559, 1978553, 1997387, 2014036, 2014802, 2035532, 2044609, 2063869, 2071149, 2309142, 2564729, 2574002, 2574153, 2606484, 2615649, 2816939, 2840952, 2884570, 3615198, 7545869, 7556322, 7581408, 7609462, 7668259, 7707686, 7726156, 7741023, 7766951, 7766957, 7833954, 7844887, 7860062, 7913581, 7914195, 7915167, 7981714, 8019568, 8051931, 8068076, 8088845, 8095248, 8097262, 8097423, 8098245, 8116675, 8222245, 8268925, 8304187, 8320703, 8364593, 8406445, 8533759, 8535444, 8535445, 8556304, 8592329, 8632937, 8659548, 8682503, 8739972, 8807319, 8807331, 8825928, 8829656, 8830172, 8831077, 8860005, 8889583, 8889590, 8981952, 8990013, 8990021, 9012412, 9048935, 9101291, 9284280, 9298832, 9359039, 9391881, 9399896, 9429153 ClinVar
QDPR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25526675 -
Mild phenylketonuria 79253 PAH Causal Pathogenic evidence from ClinVar - ClinVar
Phenylketonuria II C0268465 PAH Causal Pathogenic evidence from ClinVar - ClinVar
QDPR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2116088, 7627180, 8326489, 8518287, 9744478, 10029353, 10408783, 10677304, 11153907, 25526675, 25667865, 26006720, 27604308, 27830117 -
Phenylketonuria, Maternal C0085547 PAH Causal Pathogenic evidence from ClinVar 1915502 ClinVar
Phenylketonurias C0031485 PAH Causal Pathogenic evidence from ClinVar 24816252 ClinVar
QDPR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25526675 -