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52 recordsSickle Cell disease · inherited hemoglobin disorders involving hemoglobin S
A group of inherited blood disorders in which hemoglobin S is present with another disease-associated HBB allele. Low-oxygen HbS can form fibers, making red blood cells rigid and contributing to anemia and blocked blood flow.
G6PD Deficiency · Glucose-6-phosphate dehydrogenase deficiency
Variants that reduce G6PD activity can leave red blood cells less able to manage oxidative stress.
Phenylketonuria (PKU) · PAH-related phenylalanine hydroxylase deficiency
Usually caused by PAH variants that impair conversion of phenylalanine to tyrosine.
Beta Thalassemia · HBB-related reduced beta-globin production
A group of inherited blood disorders in which HBB variants reduce or prevent beta-globin production, limiting functional hemoglobin and healthy red blood cells.
Pyruvate Kinase deficiency · PKLR-related red-cell glycolytic disorder
Inherited PKLR variants can reduce red-cell pyruvate kinase activity and impair ATP generation in erythrocytes.
Allergy Test panel (components unspecified) · Allergy testing panel
A generic allergy test panel; the allergens and analytes it covers were not specified.
Anti-dsDNA Antibodies · Antibodies to double-stranded DNA
Autoantibodies against double-stranded DNA; testing is used to help diagnose lupus.
Anti-HBc (total) · Total antibody to hepatitis B core antigen
Total antibody to hepatitis B core antigen, indicating past or current HBV infection; vaccination does not produce it.
Anti-HBe · Antibody to hepatitis B e antigen
Antibody to hepatitis B e antigen, usually associated with reduced viral replication.
Anti-HBs · Antibody to hepatitis B surface antigen
Antibody to hepatitis B surface antigen, indicating immunity after recovery or vaccination.
Anti-HCV · Antibody to hepatitis C virus
Antibody to hepatitis C virus, indicating current or past exposure; it does not by itself establish current infection.
Antineutrophil Cytoplasmic antibodies (ANCA) · Antineutrophil cytoplasmic antibodies
Autoantibodies against neutrophil proteins; testing helps evaluate autoimmune vasculitis and related systemic autoimmune conditions.
Antinuclear Antibodies (ANA) · Antinuclear antibodies
Autoantibodies that bind nuclear components; common in lupus but also found in some healthy people.
Antisense Oligonucleotides · Antisense oligonucleotides
Short synthetic nucleic-acid strands designed to bind a selected RNA sequence and alter its processing or use.
Autoimmune Liver disease · Autoimmune liver diseases (category)
A broad category of liver conditions driven by immune attack, including autoimmune hepatitis, primary biliary cholangitis, and primary sclerosing cholangitis.
Autoimmune Liver disease antibody panel (components unspecified) · Autoantibody panel for autoimmune liver disease
A panel of autoantibody tests used in evaluating autoimmune liver disease; the specific components were not specified.
BRAF V600E and MAPK signaling
A recurrent BRAF variant that can drive MAPK-pathway signaling and create a context-dependent drug target.
Duchenne Muscular dystrophy · Duchenne muscular dystrophy
A genetic muscle disease caused by DMD variants that disrupt production of functional dystrophin.
Ebola Disease · Ebola disease
A severe illness caused by infection with an orthoebolavirus; Ebola disease is not caused by every virus in the Filoviridae family.
EBV IgA antibody (antigen unspecified) · IgA-class antibody to an Epstein-Barr virus antigen
An IgA-class antibody test against Epstein-Barr virus; the source list does not specify which viral antigen is measured.
Enzyme Replacement therapy · Enzyme replacement therapy
Treatment with a manufactured enzyme to replace or supplement activity that is deficient in a particular disease.
Epstein-Barr Virus infection · Infection with Epstein-Barr virus (human gammaherpesvirus 4)
Infection with a very common herpesvirus that can cause infectious mononucleosis and then persists silently for life.
Gaucher Disease · Gaucher disease
An inherited lysosomal disorder associated with reduced glucocerebrosidase activity and accumulation of its lipid substrate.
Glycogen Storage disease type I · Von Gierke disease spectrum
GSD Ia involves G6PC1; GSD Ib involves SLC37A4. Both impair the final release of glucose from glucose 6-phosphate.
H. pylori antibodies · Antibodies to Helicobacter pylori
Blood antibodies against H. pylori; they show exposure but cannot distinguish active from past infection.
H. pylori antibody typing panel (antigen targets unspecified) · Helicobacter pylori antibody typing panel
A panel that types blood antibodies against Helicobacter pylori antigens; the antigens it covers were not named.
H. pylori infection · Helicobacter pylori infection
Stomach infection with Helicobacter pylori, a common cause of peptic ulcers that can be cleared with antibiotic treatment.
Hantavirus Pulmonary syndrome · Hantavirus pulmonary syndrome
A severe respiratory illness associated with infection by New World hantaviruses, including Sin Nombre virus in the United States.
HBeAg · Hepatitis B e antigen
A secreted HBV protein associated with active viral replication and high infectivity in a person with HBV infection.
HbS β6 Glu→Val Variant
The HBB missense variant that produces sickle hemoglobin: glutamate is replaced by valine at mature beta-globin residue 6 (often described as p.Glu7Val using precursor numbering).
HBsAg · Hepatitis B surface antigen
A hepatitis B virus surface protein; its presence indicates current HBV infection.
Hepatitis B · Hepatitis B virus infection
Liver infection caused by hepatitis B virus; it can be acute or chronic and is preventable by vaccination.
Hepatitis C · Hepatitis C virus infection
Liver infection caused by hepatitis C virus; most infections become chronic, and antiviral treatment cures most people.
HIV Antibodies · Antibodies to HIV-1 and HIV-2
Antibodies against HIV-1 or HIV-2, detected by antibody tests and by antigen/antibody combination tests.
HIV Infection · Human immunodeficiency virus infection
Infection with HIV, which targets immune cells; without treatment it can progress to AIDS, and with treatment people can live long, healthy lives.
Inclisiran And PCSK9 RNA interference · Inclisiran and PCSK9 RNA interference
A PCSK9-targeting siRNA example that reduces production of the PCSK9 protein in the liver.
Infertility Immunological test panel (targets unspecified) · Immunological testing in infertility evaluation
A generic panel of immunological tests associated with infertility evaluation; its targets were not specified.
KRAS G12C
A KRAS variant that replaces glycine at position 12 with cysteine and creates a chemically addressable feature in the protein.
Maple Syrup urine disease · Branched-chain ketoacid dehydrogenase complex deficiency
A group of inherited disorders that impair breakdown of leucine, isoleucine, and valine.
MCAD Deficiency · Medium-chain acyl-CoA dehydrogenase deficiency
ACADM variants impair the first dehydrogenation step for medium-chain fatty-acid oxidation.
siRNA Therapeutics · siRNA therapeutics
Short double-stranded RNAs that guide cellular RNA-interference machinery to a complementary target RNA.
SOD1-targeted Antisense research · SOD1-targeted antisense research
An example of using an antisense drug to reduce RNA from a disease-associated gene rather than inhibit its protein product.
Spinal Muscular atrophy · SMN1-related (5q) spinal muscular atrophy
An inherited condition in which loss of motor neurons causes progressive muscle weakness; most cases are due to loss of both working SMN1 copies.
Substrate Reduction therapy · Substrate reduction therapy
A strategy that lowers production of a material that accumulates when its breakdown pathway is impaired.
Syphilis · Infection with Treponema pallidum subspecies pallidum
A sexually transmitted bacterial infection that progresses through stages if untreated and can pass to a fetus during pregnancy; it is curable with antibiotics.
Systemic Lupus erythematosus · Systemic lupus erythematosus (lupus)
A chronic autoimmune disease in which the immune system attacks the body's own tissues, affecting skin, joints, kidneys, blood cells, and other organs.
TB Antibody test (unspecified) · Unspecified antibody-based test for Mycobacterium tuberculosis
An unspecified antibody-based tuberculosis test; antibody tests are not recommended for diagnosing active TB.
Therapeutic Antibodies · Therapeutic antibodies
Medicines made from antibodies that recognize targets such as receptors, soluble proteins, or cell-surface markers.
Treponema pallidum antibodies · Treponemal antibodies to Treponema pallidum
Antibodies specific to the syphilis bacterium, detected by treponemal tests; they usually persist for life.
Tuberculosis · Infection or disease caused by Mycobacterium tuberculosis
An airborne bacterial disease that usually affects the lungs; infection can stay inactive or progress to TB disease, which is treatable and curable.
Vaccination
An intervention that presents antigenic information to the immune system to help establish protective responses and memory.
Viral Hepatitis serology panel (components unspecified) · Viral hepatitis serology panel
A broad blood-test panel for viral hepatitis; the specific markers it includes were not named.