Human | NCF1 | 653361 | neutrophil cytosolic factor 1 | Dermatitis, infectious, due to immunodeficiency Impetigo |
Human | TIRAP | 114609 | toll-interleukin 1 receptor (TIR) domain containing adaptor protein | Mal S180L variant attenuated TLR2 signal transduction and confers a protective effect against infectious diseases |
Human | GPR98 | 84059 | G protein-coupled receptor 98 | Seizures occur in absence of intracranial infection or defined pathologic or traumatic cause |
Human | SLC35C1 | 55343 | solute carrier family 35 (GDP-fucose transporter), member C1 | Absence of pus formation at site of infection |
Human | SBDS | 51119 | Shwachman-Bodian-Diamond syndrome | Increased susceptibility to infection |
Human | LY96 | 23643 | lymphocyte antigen 96 | innate immune recognition of LTA via LBP, CD14, and TLR-2 represents an important mechanism in the pathogenesis of systemic complications in the course of infectious diseases brought about by Gram-positive pathogens. while TLR-4 and MD-2 are not involved |
Human | MLYCD | 23417 | malonyl-CoA decarboxylase | Symptoms may be precipitated by infection |
Human | SEC63 | 11231 | SEC63 homolog (S. cerevisiae) | |
Human | ADAMTS13 | 11093 | ADAM metallopeptidase with thrombospondin type 1 motif, 13 | Triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection |
Human | SEPT9 | 10801 | septin 9 | Episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy |
Human | RAB7A | 7879 | RAB7A, member RAS oncogene family | Ulcers often lead to infection and amputation |
Human | TLR2 | 7097 | toll-like receptor 2 | Susceptibility to infection by Mycobacterium leprae causing leprosy |
Human | TLR1 | 7096 | toll-like receptor 1 | Susceptibility to infection by Mycobacterium leprae causing leprosy TLR1 single nucleotide polymorphism P315L may predispose certain individuals to infectious diseases for which the sensing of microbial cell components by TLR1 is critical to innate immune defense |
Human | TBX1 | 6899 | T-box 1 | Susceptibility to infection |
Human | SFTPC | 6440 | surfactant protein C | Congenital form likely autosomal recessive, but later onset form usually idiopathic or associated with hematologic malignancy, lymphoma, or infection |
Human | SFTPB | 6439 | surfactant protein B | Congenital form likely autosomal recessive, but later onset form usually idiopathic or associated with hematologic malignancy, lymphoma, or infection |
Human | SDHA | 6389 | succinate dehydrogenase complex, subunit A, flavoprotein (Fp) | Lactic acidosis may occur with stress or infection |
Human | SCN1A | 6323 | sodium channel, voltage-gated, type I, alpha subunit | Seizures occur in absence of intracranial infection or defined pathologic or traumatic cause |
Human | PRKCSH | 5589 | protein kinase C substrate 80K-H | |
Human | PLG | 5340 | plasminogen | Pseudomembrane formation triggered by injury, infection, irritation, surgery |
Human | PKLR | 5313 | pyruvate kinase, liver and RBC | Anemia may be exacerbated during infection or pregnancy |
Human | NCF2 | 4688 | neutrophil cytosolic factor 2 | Dermatitis, infectious, due to immunodeficiency Impetigo |
Human | IL12B | 3593 | interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) | The 1188A/C exchange in the IL12B gene is associated with Th1-mediated infectious diseases such as tuberculosis and salmonellosis |
Human | HMBS | 3145 | hydroxymethylbilane synthase | Attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes |
Human | FOXC2 | 2303 | forkhead box C2 (MFH-1, mesenchyme forkhead 1) | Cellulitis or infection may occur |