Acute Intermittent Porphyria Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0162565
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Genes

94 genes associated with the disease Acute Intermittent Porphyria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCF1 ATP-binding cassette, sub-family F (GCN20), member 1
AIP aryl hydrocarbon receptor interacting protein
ALAD aminolevulinate dehydratase
ALAS1 5'-aminolevulinate synthase 1
ALAS2 5'-aminolevulinate synthase 2
AMY2A amylase, alpha 2A (pancreatic)
APOA2 apolipoprotein A-II
ARSA arylsulfatase A
B2M beta-2-microglobulin
CA2 carbonic anhydrase II
CALCA calcitonin-related polypeptide alpha
CALCB calcitonin-related polypeptide beta
CAT catalase
CCR2 chemokine (C-C motif) receptor 2
CD274 CD274 molecule
CELA1 chymotrypsin-like elastase family, member 1
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CPOX coproporphyrinogen oxidase
CRP C-reactive protein, pentraxin-related
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CXCL8 chemokine (C-X-C motif) ligand 8
CXCR5 chemokine (C-X-C motif) receptor 5
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5
CYP4F3 cytochrome P450, family 4, subfamily F, polypeptide 3
DEGS1 delta(4)-desaturase, sphingolipid 1
DOCK3 dedicator of cytokinesis 3
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
ENO1 enolase 1, (alpha)
FCRL3 Fc receptor-like 3
FECH ferrochelatase
FOXP3 forkhead box P3
GC group-specific component (vitamin D binding protein)
H2AX H2A.X variant histone
HLA-A major histocompatibility complex, class I, A
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLA-E major histocompatibility complex, class I, E
HMBS hydroxymethylbilane synthase
HSPE1 heat shock 10kDa protein 1
IDO1 indoleamine 2,3-dioxygenase 1
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IL10 interleukin 10
IL13 interleukin 13
IL21 interleukin 21
IL22 interleukin 22
IL33 interleukin 33
KCNA3 potassium channel, voltage gated shaker related subfamily A, member 3
KNTC1 kinetochore associated 1
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT20 keratin 20, type I
LAIR1 leukocyte-associated immunoglobulin-like receptor 1
LILRB1 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1
LOC102723407 putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8
LOC102724971 putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8
LOC105379528 Ig heavy chain V region 5A-like
LTA lymphotoxin alpha
LTBR lymphotoxin beta receptor (TNFR superfamily, member 3)
MED1 mediator complex subunit 1
MGST3 microsomal glutathione S-transferase 3
MMRN1 multimerin 1
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MST1 macrophage stimulating 1
MT-ATP8 ATP synthase F0 subunit 8
MVD mevalonate (diphospho) decarboxylase
NGF nerve growth factor (beta polypeptide)
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
PDPN podoplanin
PEBP1 phosphatidylethanolamine binding protein 1
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLAT plasminogen activator, tissue
POMC proopiomelanocortin
PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)
PPIG peptidylprolyl isomerase G (cyclophilin G)
PPOX protoporphyrinogen oxidase
PRSS1 protease, serine, 1 (trypsin 1)
PTX3 pentraxin 3, long
SCT secretin
SKI SKI proto-oncogene
SLC15A2 solute carrier family 15 (oligopeptide transporter), member 2
SMAD4 SMAD family member 4
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SPINK1 serine peptidase inhibitor, Kazal type 1
SST somatostatin
TFPI2 tissue factor pathway inhibitor 2
TGFB1 transforming growth factor, beta 1
TGM2 transglutaminase 2
THY1 Thy-1 cell surface antigen
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TLR9 toll-like receptor 9
TNF tumor necrosis factor
TP53 tumor protein p53
UROD uroporphyrinogen decarboxylase