Classical Phenylketonuria Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0751434
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Genes

42 genes associated with the disease Classical Phenylketonuria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
ALB albumin
APP amyloid beta (A4) precursor protein
ASS1 argininosuccinate synthase 1
ATR ATR serine/threonine kinase
BEST1 bestrophin 1
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CAT catalase
CRK v-crk avian sarcoma virus CT10 oncogene homolog
DMD dystrophin
FN1 fibronectin 1
GPX3 glutathione peroxidase 3
GRAP2 GRB2-related adaptor protein 2
GRM5 glutamate receptor, metabotropic 5
HBB hemoglobin, beta
LAT linker for activation of T cells
LRIT1 leucine-rich repeat, immunoglobulin-like and transmembrane domains 1
MAOB monoamine oxidase B
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MBP myelin basic protein
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
NQO1 NAD(P)H dehydrogenase, quinone 1
OXCT1 3-oxoacid CoA transferase 1
PAH phenylalanine hydroxylase
PAM peptidylglycine alpha-amidating monooxygenase
PELI1 pellino E3 ubiquitin protein ligase 1
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
POLG polymerase (DNA directed), gamma
PRDM6 PR domain containing 6
PTS 6-pyruvoyltetrahydropterin synthase
QDPR quinoid dihydropteridine reductase
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
SHCBP1 SHC SH2-domain binding protein 1
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC38A7 solute carrier family 38, member 7
SLC7A5 solute carrier family 7 (amino acid transporter light chain, L system), member 5
SOD1 superoxide dismutase 1, soluble
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
TH tyrosine hydroxylase
TTR transthyretin