Lysinuric Protein Intolerance Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism. (Orphanet Rare Disease Ontology, Orphanet_470)
External Link https://www.disgenet.org/browser/0/1/0/C0268647
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Genes

21 genes associated with the disease Lysinuric Protein Intolerance in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
APAF1 apoptotic peptidase activating factor 1
BCL2 B-cell CLL/lymphoma 2
CCL21 chemokine (C-C motif) ligand 21
CFP complement factor properdin
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CXCL10 chemokine (C-X-C motif) ligand 10
DLL1 delta-like 1 (Drosophila)
LAT linker for activation of T cells
MYH7 myosin, heavy chain 7, cardiac muscle, beta
NAGS N-acetylglutamate synthase
OAT ornithine aminotransferase
PSMB6 proteasome (prosome, macropain) subunit, beta type, 6
SLC3A2 solute carrier family 3 (amino acid transporter heavy chain), member 2
SLC7A2 solute carrier family 7 (cationic amino acid transporter, y+ system), member 2
SLC7A5 solute carrier family 7 (amino acid transporter light chain, L system), member 5
SLC7A6 solute carrier family 7 (amino acid transporter light chain, y+L system), member 6
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SLC7A8 solute carrier family 7 (amino acid transporter light chain, L system), member 8
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
TLR4 toll-like receptor 4
YY1 YY1 transcription factor