Hyperphenylalaninaemia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description disease cluster belonging to disease group metabolic (Genetic Association Database)
External Link https://www.disgenet.org/browser/0/1/0/C0751435
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Genes

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

Symbol Name
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
COL1A1 collagen, type I, alpha 1
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DHFR dihydrofolate reductase
DNAJC12 DnaJ (Hsp40) homolog, subfamily C, member 12
EDN1 endothelin 1
EGLN1 egl-9 family hypoxia-inducible factor 1
EGLN2 egl-9 family hypoxia-inducible factor 2
EGLN3 egl-9 family hypoxia-inducible factor 3
GCH1 GTP cyclohydrolase 1
GPX3 glutathione peroxidase 3
HNF1A HNF1 homeobox A
HPD 4-hydroxyphenylpyruvate dioxygenase
HSPA4 heat shock 70kDa protein 4
LAT linker for activation of T cells
LRIT1 leucine-rich repeat, immunoglobulin-like and transmembrane domains 1
MFN1 mitofusin 1
NIF3L1 NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
PAH phenylalanine hydroxylase
PAM peptidylglycine alpha-amidating monooxygenase
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
PHC1 polyhomeotic homolog 1 (Drosophila)
PHC2 polyhomeotic homolog 2 (Drosophila)
PTS 6-pyruvoyltetrahydropterin synthase
QDPR quinoid dihydropteridine reductase
SHCBP1 SHC SH2-domain binding protein 1
SLC7A5 solute carrier family 7 (amino acid transporter light chain, L system), member 5
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
TH tyrosine hydroxylase
TPH2 tryptophan hydroxylase 2