PAH, phenylalanine hydroxylase, 5053

N. diseases: 5; N. variants: 6
Source: GWASCAT ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		group Laboratory Procedure 53 92 0.100 None 1.000 3 4 2015 2019
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0202174
Disease: blood phenylalanine measurement by Guthrie microbiologic assay
blood phenylalanine measurement by Guthrie microbiologic assay 		phenotype Laboratory Procedure 4 7 0.100 None 1.000 1 2 2019 2019
CUI: C0202202
Disease: Protein measurement
Protein measurement 		group Laboratory Procedure 62 74 0.100 None 1.000 1 1 2016 2016
CUI: C4268744
Disease: Atypical femoral fracture
Atypical femoral fracture 		phenotype Pathologic Function 12 23 0.100 None 1.000 1 1 2019 2019