Bone Marrow Dysplasia Present in 50 Percent or More of the Cells of Two Cell Lines

An indication that signs of dysplasia were detected in at least 50 percent of the cells from two hematopoietic cell lineages in a bone marrow sample


Blasts Under 5 Percent of Bone Marrow Nucleated Cells

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon

A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts Under 5 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


T-Cells and Natural Killer Cells Absent B-Cells Normal

A hematology test result indicating that a subject has a normal amount of B-cells but both T-cells and natural killer cells are either absent or found at abnormally low amounts.


Hemolysis

Disruption of the integrity of the erythrocyte membrane causing release of hemoglobin.


Immature Granulocytes in Peripheral Blood Increased

The presence of an increased number of granulocytic leukocytes, indicating an early-stage response to infection, inflammation, or neoplastic process.


Blasts 6-25 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 6 and 25 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Lymphoblasts 5 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 5 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


Blasts 5-20 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 5 and 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Lymphoblasts 20 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 20 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


Atypical Lymphocytes Present in Peripheral Blood

A variation of lymphocytes found in a peripheral blood smear that are larger, with abundant cytoplasm, and having nuclei with multiple nucleoli.


Blasts 0 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that immature mononuclear cells are not detected when the nucleated cells in a peripheral leukocyte sample were examined.


Platelet Count 50000

Indicates a platelet count of at least 50,000 per cubic millimeter.


Hypereosinophilia of Undetermined Significance

An interim diagnosis made during the evaluation of persistent peripheral eosinophilia in asymptomatic patients that demonstrate no clinical signs of end-organ dysfunction.


Blasts 5-30 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 5 and 30 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


gp100:154-162-Reactive Peripheral Blood Lymphocytes Present

A laboratory test result indicating that lymphocytes reactive to amino acids 154 through 162 of the melanocyte protein PMEL (gp100) were detected in a sample.


HIV-Related Thrombocytopenia

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon

Thrombocytopenia that occurs in patients with acquired immunodeficiency syndrome.


Megakaryocytes Increased in Bone Marrow

A laboratory test result indicating abnormally high numbers of megakaryocytes in the bone marrow.


Neoplastic Plasma Cells Under 10 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 10 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Blasts 5-25 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 5 and 25 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Clonal Plasma Cells in Bone Marrow

A finding indicating that clonal plasma cells have been detected in a bone marrow sample.


Blasts 2-4 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that between 2 and 4 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blasts 1 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 1 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Bone Marrow Eosinophilia

A finding indicating abnormally high levels of eosinophils in a bone marrow sample.


Lymphoblasts 5-25 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 5 and 25 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


Myeloblasts 10-19 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 10 and 19 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Myeloblasts More than 5 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 5 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Blasts Under 30 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that less than 30 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Mast Cells 10 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that at least 10 percent of the nucleated cells in a bone marrow sample are mast cells.


myelophthisic anemia

A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells.


Neoplastic Plasma Cells Present in Bone Marrow

A finding indicating that neoplastic plasma cells were detected in a bone marrow sample.


Neoplastic Plasma Cells 20 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 20 percent or less of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Blasts 21-30 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 21-30 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Lymphoblasts 5 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 5 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


Myeloblasts 5-19 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 5-19 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


CD5-Positive Blast Cells Greater than 50 Percent

A semi-quantitative microscopic finding indicating that more than 50% of the immature blood cells in a sample express CD5.


Blasts More than 25 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 25 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Neoplastic Plasma Cells 5 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that at least 5 percent of the leukocytes in a peripheral blood sample are neoplastic plasma cells.


Blasts 20,000 or Less of Peripheral Blood White Cells

A quantitative microscopic finding indicating that 20,000 or fewer nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blasts More than 5 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 5 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts Under 10 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts Less Than 50 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 50 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Severe Myelosuppression

Severe reduction of bone marrow function secondary to drug treatment. It results in anemia, leukopenia, and thrombocytopenia.


Platelet Count 20000

Indicates a platelet count of at least 20,000 per cubic millimeter.


Prolymphocytes Exceed 55 Percent of Lymphoid Cells in the Peripheral Blood

A semi-quantitative microscopic finding indicating that more than 55 percent of the lymphoid cells in a peripheral blood sample are prolymphocytes.


Peripheral Blood Basophilia

A finding indicating abnormally high levels of basophils in a peripheral blood sample.


Myeloblasts 5 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 5 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Myeloblasts Under 5 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of myeloid origin.


T-Cells and B-Cells Absent and Natural Killer Cells Normal

A hematology test result indicating that a subject has a normal amount of natural killer cells but B-cells and T-cells are either absent or found at abnormally low amounts.


Tumor-Associated Lymphocytosis

A laboratory test result indicating an abnormal increase in the number of lymphocytes in a sample from a subject with a tumor.


Blasts 15 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at most 15 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Decrease in Blasts

A semi-quantitative microscopic finding indicating that the amount of immature mononuclear cells in a sample from a certain subject has decreased when compared to a prior sample from the same subject.


Lymphoblasts Less than 5 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


Granulocytes Increased in Bone Marrow

An indication that the number of granulocytes in a bone marrow sample have increased when compared to a normal baseline or a previous sample measurement.


Blasts 2 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 2 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Abnormal Hematology Test Result

A laboratory test result that indicates the presence of abnormal peripheral blood and/or bone marrow values.


Blasts 6 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 6 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts Under 15 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 15 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts 50 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 50 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.


T-Cells, B-Cells and Natural Killer Cells Absent

A hematology test result indicating that a subject's T-cells, B-cells and natural killer cells are either absent or found at abnormally low amounts.


Bi-Cytopenia

A deficiency of two of the three blood cell lineages; erythrocytes, leukocytes and platelets.


Blasts 20 Percent or Less of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 20 percent or less of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Neoplastic Plasma Cells 10-60 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 10 and 60 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Neoplastic Plasma Cells Under 5 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a peripheral leukocyte sample are neoplastic plasma cells.


Erythroid Precursors 80 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 80 percent of the nucleated cells in a bone marrow sample are immature cells of the erythroid lineage.


Blasts 5 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 5 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Neoplastic Plasma Cells Between 20 and 50 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 20 and 50 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Atypical Lymphocytes Present in Bone Marrow

A finding indicating that atypical lymphocytes were detected in a bone marrow sample.


Neoplastic Plasma Cells Under 50 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 50 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Blasts 25 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 25 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Neoplastic Plasma Cells 60 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 60 percent or more of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Blasts More than 20 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts 60 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 60 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Neoplastic Plasma Cells More than 30 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 30 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Neoplastic Plasma Cells 10-59 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 10 and 59 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Neoplastic Promyelocytes in Bone Marrow Markedly Increased


Myeloblasts 1 Percent of Peripheral Blood White Cells

A microscopic finding indicating that 1 percent of the white cells in a peripheral blood sample are myeloblasts.


Hemoglobinuria due to hemolysis from external causes

Hemoglobin in the urine that is due to hemolysis from an external cause.


Neoplastic Plasma Cells Under 20 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 20 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Aberrant Clonal Plasma Cell Population

A population of plasma cells which display atypical morphological features, an abnormal immunophenotypic profile, and molecular genetic characteristics of clonality (monoclonality).


Blasts Less than or Equal to 10000/mm3

A quantitative microscopic finding indicating that immature mononuclear cells are found at less than or equal to 10000 per cubic millimeter field in a sample.


Erythroid Series Cells Decreased

A morphologic finding indicating the presence of a decreased number of erythroid cells in the bone marrow.


Blasts Expressing B-Lymphoid and T-Lymphoid Markers Present

A finding indicating the presence of blasts with evidence of both B-cell and T-cell lineage assignment.


Chemotherapy Related Agranulocytosis

Agranulocytosis that occurs with chemotherapy.


Drug Induced Thrombocytopenia

Thrombocytopenia caused by ingested or injected drugs. It may be the result of decreased platelet production due to bone marrow suppression or increased rate of platelet destruction.


Blasts 0.1 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 0.1 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts Expressing B-Lymphoid and Myeloid Markers Present

An indication that immature hematopoetic cells expressing B-lymphoid and myeloid markers were detected in a sample.


Peripheral Blood Eosinophilia

A finding indicating abnormally high levels of eosinophils in a peripheral blood sample.


Blasts of Mixed Phenotype Present

An indication that immature hematopoetic cells from two or more lineages were detected in a sample.


Myeloblasts 20 Percent or More of Bone Marrow Non-Erythroid Cells

A semi-quantitative microscopic finding indicating that at least 20 percent of the non-erythroid nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Blasts 25 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 25 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Myeloblasts Under 20 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating less than 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Neoplastic Granulocytes and Precursors 20 Percent or More of Bone Marrow Cells

A semi-quantitative microscopic finding indicating that at least 20 percent of the nucleated cells in a bone marrow sample are comprised of neoplastic cells with features of the granulocyte lineage.


Basophilopenia

Abnormally low level of basophils in the blood.


Pancytopenia caused by medication

Pancytopenia caused by exposure to certain drugs.


Blasts 5-19 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 5 and 19 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Ineffective Hematopoiesis

A dysfunction in the production of blood cells, resulting in decreased numbers of mature, functioning blood cells of all lines in circulation.


Myeloblasts 20 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Homozygous Hemoglobin C or E, Non-Disease

A state in which both beta-globin alleles code for a C or E variant but which leads to such minor changes to the hemoglobin that it does not cause disease.


T-Cells Absent and Normal Natural Killer Cells and B-Cells

A hematology test result indicating that a subject has a normal amount of B-cells and natural killer cells but T-cells are either absent or found at abnormally low amounts.


Bone Marrow Dysplasia Present

A laboratory test result indicating abnormal bone marrow cells.


Neoplastic Plasma Cells Between 10 and 30 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 10 and 30 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Erythroid Precursors 50 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 50 percent of the nucleated cells in a bone marrow sample are immature cells of the erythroid lineage.


Ring Sideroblasts 15 Percent or More of Erythroid Precursors

A semi-quantitative microscopic finding indicating 15 percent or more of the cells in a sample of erythroid precursor cells are ring sideroblasts.


Blasts 30,000 or Less of Peripheral Blood White Cells

A quantitative microscopic finding indicating that 30,000 or fewer nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Myeloblasts 5 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 5 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Blasts 11-20 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 11 and 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Neoplastic Plasma Cells 30 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 30 percent or less of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Lymphoma Cells More than 25 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 25 percent of the nucleated cells in a bone marrow sample are lymphoma-derived cells.


Blasts Under 20 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that less than 20 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Myeloblasts Present

A microscopic finding indicating the presence of immature mononuclear cells of myeloid origin in a sample.


Bone Marrow Blasts Percentage Decreased by 5 to 25 Percent

A semiquantitative finding indicating that the amount of immature mononuclear cells in a subject's sample of nucleated cells from bone marrow has decreased by between 5 and 25 percent from a previous percentage recorded for a sample from that subject.


Blasts 5 Percent or Less of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 5 percent or less of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blasts 30 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 30 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Autoimmune cytopenia

Cytopenia caused by autoantibodies against the red blood cells, neutrophils, and/or platelets.


Hypercellular Bone Marrow

An abnormal finding in a bone marrow aspirate or biopsy specimen indicating increased cellularity. It can result from hyperplasia of one or more hematopoietic cell lines or malignant neoplasms that affect the bone marrow.


BCR-JAK2 Fusion in Hematologic Malignancies

An extremely rare finding in hematologic malignancies indicating an association with BCR-JAK2 fusion gene that results from t(9;22)(p24;q11.2). Most cases exhibit chronic myelogenous leukemia-type phenotype.


Neoplastic Plasma Cells 10 Percent of Bone Marrow Nucleated Cells

A microscopic finding indicating that 10 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Blasts 5-19 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 5-19 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Low Natural Killer Cell Activity

A decrease in the ability of peripheral mononuclear blood cells to lyse MHC I deficient target cells either due to low numbers of natural killer cells, or a reduction of their lytic activity.


Blasts 5-10 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 5 and 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Lymphoblasts 5 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 5 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of lymphoid origin.


Blasts 10 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts 2 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 2 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts 1 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 1 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts Increased by Greater than or Equal to 50 Percent

A semi-quantitative microscopic finding indicating that the amount of immature mononuclear cells in a sample from a certain subject has increased by at least 50 percent over a prior sample from the same subject.


Blasts Under 10 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that less than 10 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Neoplastic Plasma Cells More than 5 Percent of Peripheral Blood White Cells

A microscopic finding indicating that more than 5 percent of the nucleated cells in a peripheral leukocyte sample are neoplastic plasma cells.


Blasts 6-19 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 6 and 19 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Multilineage Dysplasia Present

A hematologic test result indicating dysplastic changes in two or more of the myeloid cell lineages in the bone marrow.


age related macular degeneration 4

Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene.


age related macular degeneration 13

An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the CFI gene.


Mixed phenotype acute leukemia T/myeloid

A rare mixed phenotype acute leukemia in which the blasts express T-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation.  The prognosis is usually unfavorable.


voltage-dependent L-type calcium channel subunit alpha-1D isoform r7 (rat)

A voltage-dependent L-type calcium channel subunit alpha-1D (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P27732-7.


Grade 5 Hepatic Necrosis, CTCAE

Death


Prostate Acinar Adenocarcinoma, Atrophic Variant

An unusual variant of acinar prostate adenocarcinoma characterized by the presence of neoplastic small atrophic glands that contain malignant cells with scant cytoplasm.


maltase-glucoamylase O-glycosylated 6 (human)

A maltase-glucoamylase (human) that has been O-glycosylated at the residue equivalent to Thr-83 of the amino acid sequence represented by UniProtKB:O43451-1, in which the glycan composition is represented by GlyTouCan:G58001LT. Example: UniProtKB:O43451-1, Thr-83, MOD:00005~GNO:G58001LT.


maltase-glucoamylase isoform h1 (human)

A maltase-glucoamylase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O43451-1.


maltase-glucoamylase O-glycosylated 7 (human)

A maltase-glucoamylase (human) that has been O-glycosylated at the residue equivalent to Thr-84 of the amino acid sequence represented by UniProtKB:O43451-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O43451-1, Thr-84, MOD:00005~GNO:G43417UB.


maltase-glucoamylase isoform h2 (human)

A maltase-glucoamylase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O43451-2.


maltase-glucoamylase O-glycosylated 3 (human)

A maltase-glucoamylase (human) that has been O-glycosylated at the residue equivalent to Thr-83 of the amino acid sequence represented by UniProtKB:O43451-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:O43451-1, Thr-83, MOD:00005~GNO:G29068FM.


maltase-glucoamylase O-glycosylated 4 (human)

A maltase-glucoamylase (human) that has been O-glycosylated at the residue equivalent to Thr-83 of the amino acid sequence represented by UniProtKB:O43451-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O43451-1, Thr-83, MOD:00005~GNO:G43417UB.


maltase-glucoamylase O-glycosylated 5 (human)

A maltase-glucoamylase (human) that has been O-glycosylated at the residue equivalent to Thr-83 of the amino acid sequence represented by UniProtKB:O43451-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:O43451-1, Thr-83, MOD:00005~GNO:G53434XO.


maltase-glucoamylase O-glycosylated 2 (human)

A maltase-glucoamylase (human) that has been O-glycosylated at the residue equivalent to Thr-81 of the amino acid sequence represented by UniProtKB:O43451-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O43451-1, Thr-81, MOD:00005~GNO:G43417UB.


NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform h3 (human)

An NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P28331-3.


serine/threonine-protein kinase QSK

A protein that is a translation product of the human SIK3 gene or a 1:1 ortholog thereof.


serine/threonine-protein kinase SIK3 isoform h2 (human)

A serine/threonine-protein kinase SIK3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y2K2-6.


serine/threonine-protein kinase SIK3 isoform h1 (human)

A serine/threonine-protein kinase SIK3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y2K2-5.


serine/threonine-protein kinase SIK3 isoform h3 (human)

A serine/threonine-protein kinase SIK3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y2K2-7.


serine/threonine-protein kinase SIK3 isoform h4 (human)

A serine/threonine-protein kinase SIK3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y2K2-8.


ceroid lipofuscinosis, neuronal, 6A

A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


Grade 1 Telangiectasia, CTCAE

Telangiectasias covering <10% BSA


potassium voltage-gated channel subfamily C member 2 isoform h5 (human)

A potassium voltage-gated channel subfamily C member 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96PR1-5.


multiple epiphyseal dysplasia, with severe proximal femoral dysplasia

Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.


Prostate cancer stage C

Tumor is clinically localized to the periprostatic area, but extends through the prostatic capsule; the seminal vesicles may be involved.


focal adhesion kinase 1, initiator methionine removed phosphorylated 3 (human)

A focal adhesion kinase 1 (human) that has had the initiator methionine removed and has been post-translationally modified to include phosphotyrosine at positions 397, 407, 576, 577, 861 and 925, and phosphoserine at position 732 of the amino acid sequence represented by UniProtKB:Q05397. UniProtKB:Q05397, 2-1052, Tyr-397/Tyr-407/Tyr-576/Tyr-577/Tyr-861/Tyr-925, MOD:00048|Ser-732, MOD:00046.


non-severe combined immunodeficiency due to polymerase delta deficiency

Any non-severe combined immunodeficiency in which the cause of the disease is variation in the POLD1/POLD2 gene.


ear neoplasm

A neoplasm (disease) that involves the ear.


perichondritis of auricle

An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it.


congenital corneal opacities, cornea guttata, and corectopia


tympanic membrane disorder

A disease involving the tympanic membrane.


chronic eustachian salpingitis

Chronic form of otosalpingitis.


acute perichondritis of pinna

Acute form of perichondritis of auricle.


acute infection of pinna

An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species.


benign neoplasm of middle ear

A benign neoplasm that involves the middle ear.


autoimmune inner ear disease

A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible.


space motion sickness

Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)


external ear disorder

A disease involving the external ear.


external ear neoplasm

A neoplasm (disease) that involves the external ear.


cholesteatoma of external ear

A cholesteatoma (disease) that involves the external ear.


acute eustachian salpingitis

Acute form of otosalpingitis.


chronic fungal otitis externa

Chronic form of otomycosis.


tympanitis

An inflammatory disease involving a pathogenic inflammatory response in the tympanic membrane.


otomycosis

Fungus infection of the external ear, usually by aspergillus species


external ear lipoma

A benign adipose tissue neoplasm of the external ear.


chronic tympanitis

Chronic form of tympanitis.


middle ear disorder

A disease involving the middle ear.


acute allergic mucoid otitis media

A blue drum syndrome caused by an allergen.


benign neoplasm of ear

A benign neoplasm that involves the ear.


active cochleovestibular Meniere disease


acute sanguinous otitis media

A acute transudative otitis media which involves bloody effusion.


middle ear cancer

A malignant neoplasm involving the middle ear


middle ear neuroendocrine tumor

A neuroendocrine neoplasm that involves the middle ear.


inner ear cancer

A malignant neoplasm involving the internal ear.


benign paroxysmal positional vertigo

Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed.


suppurative otitis media

Inflammation of the middle ear with purulent discharge.


chronic perichondritis of pinna

Chronic form of perichondritis of auricle.


chronic non-suppurative otitis media

Chronic form of non-suppurative otitis media.


internal auditory canal lipoma

A rare benign adipose tissue neoplasm of the internal auditory canal, often presenting as an acoustic tumor. It may be intermixed with the vestibulocochlear nerve and may adhere to adjacent structures.


non-suppurative otitis media

A otitis media which involves transudation of fluid in the middle ear without pus formation.


internal auditory canal meningioma

A meningioma that affects the internal auditory canal.


patulous eustachian tube

A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection.


acute serous otitis media

A acute transudative otitis media with thin, watery and sterile effusion.


acute transudative otitis media

Acute form of non-suppurative otitis media.


acute allergic sanguinous otitis media

A acute sanguinous otitis media caused by an allergen.


external ear cancer

A malignant neoplasm involving the external ear.


serous glue ear

Chronic form of serous otitis media.


otosalpingitis

An inflammatory disease involving a pathogenic inflammatory response in the pharyngotympanic tube.


X-linked mixed hearing loss with perilymphatic gusher

X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss.


cholesteatoma of attic

A cholesteatoma in the attic


cholesteatoma of middle ear

A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear.


purulent acute otitis media

Acute form of suppurative otitis media.


blue drum syndrome

A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color.


cochlear disorder

Pathological processes of the snail-like structure (cochlea) of the inner ear (labyrinth) which can involve its nervous tissue, blood vessels, or fluid (endolymph).


malignant otitis externa

An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes.


allergic otitis media

A otitis media (disease) with a basis in a pathological type I hypersensitivity reaction.


acute allergic serous otitis media

A acute serous otitis media caused by an allergen.


endolymphatic hydrops

An accumulation of endolymph in the inner ear (labyrinth) leading to buildup of pressure and distortion of intralabyrinthine structures, such as cochlea and semicircular canals. It is characterized by sensorineural hearing loss; tinnitus; and sometimes vertigo.


chronic atticoantral disease

A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection.


phacogenic glaucoma

Secondary glaucoma caused by either excessive size or spheric shape of the lens.


phacolytic glaucoma

An abnormal condition characterized by an acute autoimmune reaction of the eye. It is caused by hypersensitivity of the eye to the protein of the crystalline lens and commonly follows trauma to the crystalline lens or cataract surgery. Associated symptoms include swelling and inflammation of the eye, severe pain, and blurred vision. The substance of the lens is invaded by polymorphonuclear cells and mononuclear phagocytes. Accurate diagnosis must differentiate between this condition and infectious endophthalmitis. Therapy is supportive and commonly includes the administration of corticosteroids and atropine. Refractory cases may require surgical removal of the lens.


Grade 5 Vaginal Stricture, CTCAE

Death


Vaginal Stricture, CTCAE

A disorder characterized by a narrowing of the vaginal canal.


Grade 2 Vaginal Stricture, CTCAE

Vaginal narrowing and/or shortening not interfering with physical examination


Grade 1 Vaginal Stricture, CTCAE

Asymptomatic; mild vaginal shortening or narrowing


Grade 3 Vaginal Stricture, CTCAE

Vaginal narrowing and/or shortening interfering with the use of tampons, sexual activity or physical examination


Colorectal Traditional Serrated Adenoma

An adenoma that arises from the colon or rectum.  It is characterized by prominent serration of the glands.


Colon Traditional Serrated Adenoma

An adenoma that arises from the colon.  It is characterized by prominent serration of the glands.


Colorectal Filiform Serrated Adenoma

A traditional serrated adenoma that arises from the colon or rectum.  It is characterized by the presence of prominent villous projections of the neoplastic epithelium.


voltage-dependent L-type calcium channel subunit alpha-1C isoform h31 (human)

A voltage-dependent L-type calcium channel subunit alpha-1C (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13936-31.


hyperuricemic nephropathy, familial juvenile type 4

Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene.


protein

An amino acid chain that is produced de novo by ribosome-mediated translation of a genetically-encoded mRNA, and any derivatives thereof.


potassium voltage-gated channel subfamily H member 4 isoform 1 (human)

A voltage-gated potassium channel KCNH4 isoform 1 that is encoded in the genome of human.


HLA class I histocompatibility antigen, A-1 alpha chain (human)

An HLA class I histocompatibility antigen, A alpha chain (human) that belongs to allele group 1.


lipoprotein lipase, signal peptide removed form (human)

A lipoprotein lipase (human) that has had the signal peptide removed. UniProtKB:P06858, 28-475.


P2Y receptor

A rhodopsin-like G-protein coupled receptor that is a translation product of the human P2RY1, P2RY2, P2RY4, P2RY6, P2RY11, P2RY12, P2RY13, or P2RY14 genes, 1:1 orthologs thereof, or a semi-ortholog thereof.


microtubule-associated protein tau isoform Tau-A (human)

A microtubule-associated protein tau isoform Tau-A that is encoded in the genome of human.


immunoglobulin heavy constant gamma 4 N-glycosylated 5 (human)

An immunoglobulin heavy constant gamma 4 (human) that has been N-glycosylated at the residue equivalent to Asn-177 of the amino acid sequence represented by UniProtKB:P01861-1, in which the glycan composition is represented by GlyTouCan:G10486CT. Example: UniProtKB:P01861-1, Asn-177, MOD:00160~GNO:G10486CT.


signal transducer and activator of transcription 3 isoform 1 acetylated 1 (human)

A signal transducer and activator of transcription 3 isoform 1 acetylated 1 in human. UniProtKB:P40763-1, Lys-685, MOD:00064.


gamma-aminobutyric acid receptor subunit alpha-6, signal peptide removed form (human)

A gamma-aminobutyric acid receptor subunit alpha-6 (human) that has had the signal peptide removed. UniProtKB:Q16445, 20-453.


histamine H3 receptor isoform h7 (human)

A histamine H3 receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y5N1-7.


tyrosine-protein kinase Mer N-glycosylated 1 (human)

A tyrosine-protein kinase Mer (human) that has been N-glycosylated at the residue equivalent to Asn-442 of the amino acid sequence represented by UniProtKB:Q12866-1, in which the glycan composition is represented by GlyTouCan:G12580WI. Example: UniProtKB:Q12866-1, Asn-442, MOD:00160~GNO:G12580WI.


peroxisome proliferator-activated receptor delta isoform h3 (human)

A peroxisome proliferator-activated receptor delta (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q03181-3.


acid-sensing ion channel 1 isoform r2 (rat)

An acid-sensing ion channel 1 (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P55926-2.


T-cell surface glycoprotein CD3 delta chain isoform h1 (human)

A T-cell surface glycoprotein CD3 delta chain (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P04234-1.


serine/threonine-protein kinase B-raf isoform m1 phosphorylated 1 (mouse)

A serine/threonine-protein kinase B-raf isoform m1 (mouse) that has been phosphorylated at Ser-135. UniProtKB:P28028-1, Ser-135, MOD:00046.


antithrombin-III N-glycosylated 3 (human)

An antithrombin-III (human) that has been N-glycosylated at the residue equivalent to Asn-187 of the amino acid sequence represented by UniProtKB:P01008-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P01008-1, Asn-187, MOD:00160~GNO:G00912UN.


fibroblast growth factor receptor 1 N-glycosylated 2 (human)

A fibroblast growth factor receptor 1 (human) that has been N-glycosylated at the residue equivalent to Asn-317 of the amino acid sequence represented by UniProtKB:P11362-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P11362-1, Asn-317, MOD:00160~GNO:G00912UN.


phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform h1 (human)

A phosphatidylinositol 5-phosphate 4-kinase type-2 alpha (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P48426-1.


BMP receptor type-2 sequence variant R491W (human)

A bone morphogenetic protein receptor type-2 (human) that has a Trp residue at the position equivalent to Arg-491 of the amino acid sequence represented by UniProtKB:Q13873-1. Example: UniProtKB:Q13873-1, Arg-491, CHEBI:29954.


HLA class I histocompatibility antigen, A-74 alpha chain (human)

An HLA class I histocompatibility antigen, A alpha chain (human) that belongs to allele group 74.


M-phase inducer phosphatase 3 phosphorylated 2 (human)

An M-phase inducer phosphatase 3 (human) that has been phosphorylated on the residue at the position equivalent to Ser-216 of the amino acid sequence represented by UniProtKB:P30307-1. Example: UniProtKB:P30307-1, Ser-216, MOD:00046.


voltage-dependent L-type calcium channel subunit alpha-1C isoform h34 (human)

A voltage-dependent L-type calcium channel subunit alpha-1C (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13936-34.


NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial, transit peptide removed form (human)

An NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial (human) that has had the transit peptide removed. UniProtKB:O95299, 36-355.


[pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial, transit peptide removed form (human)

A [pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial (human) that has had the transit peptide removed. UniProtKB:Q15118, 29-436.


chymase isoform h2 (human)

A chymase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P23946-2.


fibroblast growth factor receptor 4 O-glycosylated 1 (human)

A fibroblast growth factor receptor 4 (human) that has been O-glycosylated at the residue equivalent to Thr-260 of the amino acid sequence represented by UniProtKB:P22455-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22455-1, Thr-260, MOD:00005~GNO:G43417UB.


A protein that is a translation product of the human FPGS gene or a 1:1 ortholog thereof.


thromboxane-A synthase isoform h3 (human)

A thromboxane-A synthase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P24557-3.


4-aminobutyrate aminotransferase, mitochondrial isoform 1 (mouse)

A 4-aminobutyrate aminotransferase, mitochondrial isoform 1 that is encoded in the genome of mouse.


calcium/calmodulin-dependent protein kinase type II subunit alpha

A calcium/calmodulin-dependent protein kinase type II chain that is a translation product of the human CAMK2A gene or a 1:1 ortholog thereof.


thromboxane-A synthase isoform h4 (human)

A thromboxane-A synthase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P24557-4.


eyes absent homolog 2 phosphorylated form (human)

An eyes absent homolog 2 (human) that includes at least one phosphorylated residue. UniProtKB:O00167, MOD:00696.


gamma-aminobutyric acid receptor subunit alpha-3 N-glycosylated 5 (rat)

A gamma-aminobutyric acid receptor subunit alpha-3 (rat) that has been N-glycosylated at the residue equivalent to Asn-163 of the amino acid sequence represented by UniProtKB:P20236-1, in which the glycan composition is represented by GlyTouCan:G41247ZX. Example: UniProtKB:P20236-1, Asn-163, MOD:00160~GNO:G41247ZX.


fibroblast growth factor receptor 2 isoform h9 (human)

A fibroblast growth factor receptor 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P21802-15.


amiloride-sensitive sodium channel subunit beta isoform h2 (human)

An amiloride-sensitive sodium channel subunit beta (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P51168-2.


NPC1-like intracellular cholesterol transporter 1

A protein that is a translation product of the human NPC1L1 gene or a 1:1 ortholog thereof.


potassium voltage-gated channel subfamily H member 5 isoform 2 (human)

A voltage-gated potassium channel KCNH5 isoform 2 that is encoded in the genome of human.


dystrophin isoform h5 (human)

A dystrophin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P11532-3.


microtubule-associated protein tau sequence variant P332S (human)

A microtubule-associated protein tau sequence variant (human) that has a Ser residue at the position equivalent to Pro-332 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; Pro-649 in PNS-Tau). Example: UniProtKB:P10636-8, Pro-332, CHEBI:29999.


cAMP-specific 3',5'-cyclic phosphodiesterase 4D isoform h9 (human)

A cAMP-specific 3',5'-cyclic phosphodiesterase 4D (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q08499-10.


electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial isoform h1 (human)

An electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75746-1.


serine/threonine-protein kinase MARK2 isoform h11 (human)

A serine/threonine-protein kinase MARK2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7KZI7-11.


cAMP-specific 3',5'-cyclic phosphodiesterase 4D isoform h10 (human)

A cAMP-specific 3',5'-cyclic phosphodiesterase 4D (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q08499-3.


aspartyl/asparaginyl beta-hydroxylase isoform h4 (human)

An aspartyl/asparaginyl beta-hydroxylase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q12797-4.


alpha-1A adrenergic receptor isoform h2 (human)

An alpha-1A adrenergic receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P35348-2.


TRAF2 and NCK-interacting protein kinase isoform h8 (human)

A TRAF2 and NCK-interacting protein kinase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UKE5-8.


solute carrier family 22 member 6 isoform h2 (human)

A solute carrier family 22 member 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q4U2R8-2.


butyrophilin subfamily 3 member A1

A butyrophilin that is a translation product of the human BTN3A1 gene or a 1:1 ortholog thereof.


cathepsin E isoform h3 (human)

A cathepsin E (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P14091-3.


ATP-citrate synthase isoform h1 (human)

An ATP-citrate synthase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P53396-1.


beta-hexosaminidase subunit beta N-glycosylated 10 (human)

A beta-hexosaminidase subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-190 of the amino acid sequence represented by UniProtKB:P07686-1, in which the glycan structure is represented by GlyTouCan:G51623PN. Example: UniProtKB:P07686-1, Asn-190, MOD:00160~GNO:G51623PN.


TGF-beta receptor type-1

A TGF-beta superfamily receptor type-1 that is a translation product of the human TGFBR1 gene or a 1:1 ortholog thereof.


5'-AMP-activated protein kinase catalytic subunit alpha-1

A protein that is a translation product of the human PRKAA1 gene or a 1:1 ortholog thereof.


AP-2 complex subunit sigma isoform 1 (rat)

An AP-2 complex subunit sigma isoform 1 that is encoded in the genome of rat.


kallikrein-1 N-glycosylated 18 (human)

A kallikrein-1 (human) that has been N-glycosylated at the residue equivalent to Asn-108 of the amino acid sequence represented by UniProtKB:P06870-1, in which the glycan structure is represented by GlyTouCan:G20170YB. Example: UniProtKB:P06870-1, Asn-108, MOD:00160~GNO:G20170YB.


mu-type opioid receptor isoform h6 (human)

A mu-type opioid receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P35372-6.


lysosomal alpha-glucosidase N-glycosylated 2 (human)

A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-140 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan structure is represented by GlyTouCan:G30084YQ. Example: UniProtKB:P10253-1, Asn-140, MOD:00160~GNO:G30084YQ.


voltage-dependent calcium channel subunit alpha-2/delta-2, signal peptide removed form (human)

A voltage-dependent calcium channel subunit alpha-2/delta-2 (human) that has had the signal peptide removed. UniProtKB:Q9NY47, 19-1150.


cAMP-specific 3',5'-cyclic phosphodiesterase 4C isoform hPDE4C6 (human)

A cAMP-specific 3',5'-cyclic phosphodiesterase 4C (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q08493-6.


serine/threonine-protein kinase Sgk3 isoform h2 (human)

A serine/threonine-protein kinase Sgk3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96BR1-2.


sphingosine-1-phosphate lyase 1 pyridoxal phosphate lysine 1 (human)

A sphingosine-1-phosphate lyase 1 (human) that has been post-translationally modified to include pyridoxal phosphate lysine at position 353 of the amino acid sequence represented by UniProtKB:O95470. UniProtKB:O95470, Lys-353, MOD:00128.


vascular endothelial growth factor receptor 1 isoform h7 (human)

A vascular endothelial growth factor receptor 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P17948-7.


amyloid-beta precursor protein isoform APP714 (human)

An amyloid-beta precursor protein isoform APP714 that is encoded in the genome of human.


glycogen synthase kinase-3 alpha phosphorylated 1 (human)

A glycogen synthase kinase-3 alpha (human) that has been phosphorylated at Ser-21. UniProtKB:P49840, Ser-21, MOD:00046.


insulin-like growth factor 1 receptor

An insulin receptor-related receptor that is a translation product of the human IGF1R gene or a 1:1 ortholog thereof.


transferrin receptor protein 1 N-glycosylated 9 (human)

A transferrin receptor protein 1 (human) that has been N-glycosylated at the residue equivalent to Asn-727 of the amino acid sequence represented by UniProtKB:P02786-1, in which the glycan structure is represented by GlyTouCan:G74910CR. Example: UniProtKB:P02786-1, Asn-727, MOD:00160~GNO:G74910CR.


myosin-IIIb isoform h3 (human)

A myosin-IIIb (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WXR4-3.


A protein that is a translation product of the human PARP15 gene or a 1:1 ortholog thereof.


microtubule-associated protein tau sequence variant S352L (human)

A microtubule-associated protein tau sequence variant (human) that has a Leu residue at the position equivalent to Ser-352 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Ser-669 in PNS-Tau). Example: UniProtKB:P10636-8, Ser-352, CHEBI:30006.


major prion protein N-glycosylated 32 (mouse)

A major prion protein (mouse) that has been N-glycosylated at the residue equivalent to Asn-196 of the amino acid sequence represented by UniProtKB:P04925-1, in which the glycan structure is represented by GlyTouCan:G26014MK. Example: UniProtKB:P04925-1, Asn-196, MOD:00160~GNO:G26014MK.


mu-type opioid receptor isoform h17 (human)

A mu-type opioid receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P35372-17.


high affinity immunoglobulin gamma Fc receptor I, signal peptide removed form (human)

A high affinity immunoglobulin gamma Fc receptor I (human) that has had the signal peptide removed. UniProtKB:P12314, 16-374.


maternal embryonic leucine zipper kinase isoform h5 (human)

A maternal embryonic leucine zipper kinase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14680-5.


carbonic anhydrase 9

A protein that is a translation product of the human CA9 gene or a 1:1 ortholog thereof.


all-trans-retinol dehydrogenase [NAD(+)] ADH4 isoform h1 (human)

An all-trans-retinol dehydrogenase [NAD(+)] ADH4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P08319-1.


thyrotropin-releasing hormone receptor type 1

A thyrotropin-releasing hormone receptor that is a translation product of the human TRHR gene or a 1:1 ortholog thereof. The preferred ligand is thyrotropin-releasing hormone.


interferon-induced, double-stranded RNA-activated protein kinase isoform h2 (human)

An interferon-induced, double-stranded RNA-activated protein kinase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P19525-2.


placenta growth factor, signal peptide removed form (human)

A placenta growth factor (human) that has had the signal peptide removed. UniProtKB:P49763, 19-221.


metabotropic glutamate receptor 1 isoform r1C (rat)

A metabotropic glutamate receptor 1 (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P23385-3.


serine/threonine-protein kinase Pim-3

A protein that is a translation product of the human PIM3 gene or a 1:1 ortholog thereof.


G2/mitotic-specific cyclin-B3 isoform h2 (human)

A G2/mitotic-specific cyclin-B3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WWL7-2.


complement C3dg fragment (human)

A complement C3dg fragment in human. UniProtKB:P01024, 955-1303.


short transient receptor potential channel 4 isoform gamma (human)

A short transient receptor potential cation channel TRPC4 isoform 4 that is encoded in the genome of human.


immunoglobulin heavy constant epsilon N-glycosylated 28 (human)

An immunoglobulin heavy constant epsilon (human) that has been N-glycosylated at the residue equivalent to Asn-99 of the amino acid sequence represented by UniProtKB:P01854-1, in which the glycan structure is represented by GlyTouCan:G65186XA. Example: UniProtKB:P01854-1, Asn-99, MOD:00160~GNO:G65186XA.


potassium channel subfamily T member 1 isoform h2 (human)

A potassium channel subfamily T member 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5JUK3-2.


sialidase-3 isoform h1 (human)

A sialidase-3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UQ49-1.


mitogen-activated protein kinase 12

A map kinase p38 that is a translation product of the human MAPK12 gene or a 1:1 ortholog thereof.


sodium/myo-inositol cotransporter 2 O-glycosylated 1 (human)

A sodium/myo-inositol cotransporter 2 (human) that has been O-glycosylated at the residue equivalent to Ser-7 of the amino acid sequence represented by UniProtKB:Q8WWX8-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q8WWX8-1, Ser-7, MOD:00002~GNO:G43417UB.


vasopressin V2 receptor isoform h2 (human)

A vasopressin V2 receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P30518-2.


HLA class I histocompatibility antigen, A alpha chain isoform h2 (human)

An HLA class I histocompatibility antigen, A alpha chain (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P04439-2.


RAF proto-oncogene serine/threonine-protein kinase phosphorylated 6 (human)

A RAF proto-oncogene serine/threonine-protein kinase (human) that has been phosphorylated on the residue at the position equivalent to Ser-338, and phosphotyrosine at positions 340 and 341 of the amino acid sequence represented by UniProtKB:P04049. UniProtKB:P04049, Ser-338, MOD:00046|Tyr-340/Tyr-341, MOD:00048.


major prion protein N-glycosylated 4 (mouse)

A major prion protein (mouse) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P04925-1, in which the glycan structure is represented by GlyTouCan:G24132CP. Example: UniProtKB:P04925-1, Asn-180, MOD:00160~GNO:G24132CP.


sterol 26-hydroxylase, mitochondrial, transit peptide removed form (human)

A sterol 26-hydroxylase, mitochondrial (human) that has had the transit peptide removed. UniProtKB:Q02318, 34-531.


UDP-glucuronosyltransferase 1-6, signal peptide removed form (human)

A UDP-glucuronosyltransferase 1-6 (human) that has had the signal peptide removed. UniProtKB:P19224, 27-532.


STE20-like serine/threonine-protein kinase isoform h2 (human)

A STE20-like serine/threonine-protein kinase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9H2G2-2.


dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A isoform h4 (human)

A dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9HCR9-4.


acetylcholinesterase isoform h4 (human)

An acetylcholinesterase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P22303-3.


high affinity nerve growth factor receptor isoform TrkA-I mature form unphosphorylated and N-glycosylated 1 (human)

A high affinity nerve growth factor receptor isoform TrkA-I (human) that has had the signal peptide removed, is N-glycosylated and lacks phosphotyrosine at position 490. UniProtKB:P04629-2, 33-790, Tyr-490, PR:000026291|MOD:00160.


steroid 21-hydroxylase isoform h2 (human)

A steroid 21-hydroxylase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P08686-2.


amyloid-beta precursor protein sequence variant I716F (human)

An amyloid-beta precursor protein sequence variant (human) that has a Phe residue at the position equivalent to Ile-716 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ile-716, CHEBI:29997.


acyl-CoA dehydrogenase family member 10 isoform h4 (human)

An acyl-CoA dehydrogenase family member 10 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6JQN1-4.


serine/threonine-protein kinase MRCK alpha isoform h2 (human)

A serine/threonine-protein kinase MRCK alpha (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5VT25-2.


prostacyclin synthase

A protein that is a translation product of the human PTGIS gene or a 1:1 ortholog thereof.


neuronal acetylcholine receptor subunit alpha-4 sequence variant T529A (mouse)

A neuronal acetylcholine receptor subunit alpha-4 sequence variant (mouse) that has an Ala residue at the position equivalent to Thr-529 of the amino acid sequence represented by UniProtKB:O70174. UniProtKB:O70174, Thr-529, CHEBI:46217.


ryanodine receptor 1 isoform h2 (human)

A ryanodine receptor 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P21817-2.


tyrosine-protein kinase HCK, initiator methionine removed form (human)

A tyrosine-protein kinase HCK (human) that has had the initiator methionine removed. UniProtKB:P08631, 2-526.


serine/threonine-protein kinase 32A

A protein that is a translation product of the human STK32A gene or a 1:1 ortholog thereof.


microtubule-associated protein tau sequence variant L315R (human)

A microtubule-associated protein tau sequence variant (human) that has an Arg residue at the position equivalent to Leu-315 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Arg-632 in PNS-Tau)). Example: UniProtKB:P10636-8, Leu-315, CHEBI:29952.


apoptosis regulator Bcl-2 isoform 1 phosphorylated 3 (human)

An apoptosis regulator Bcl-2 isoform 1 phosphorylated 3 in human. UniProtKB:P10415-1, Thr-69, MOD:00047|Ser-70/Ser-87, MOD:00046.


glutamate receptor 1 isoform h3 (human)

A glutamate receptor 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P42261-3.


microtubule-associated protein tau sequence variant A239T (human)

A microtubule-associated protein tau sequence variant (human) that has a Thr residue at the position equivalent to Ala-239 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; Ala-556 in PNS-Tau). Example: UniProtKB:P10636-8, Ala-239, CHEBI:30013.


interleukin-5 receptor subunit alpha, signal peptide removed form (human)

An interleukin-5 receptor subunit alpha (human) that has had the signal peptide removed. UniProtKB:Q01344, 21-420.


voltage-gated potassium channel subunit KCNQ1 sequence variant G179S (human)

A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Ser residue at the position equivalent to Gly-179 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-179, CHEBI:29999.


potassium voltage-gated channel subfamily KQT member 2 isoform 10 (mouse)

A voltage-gated potassium channel subunit KCNQ2 isoform 10 that is encoded in the genome of mouse.


influenzavirus neuraminidase

A protein that is a translation product of the Influenza A virus (strain A/Puerto Rico/8/1934 H1N1) NA gene or a 1:1 ortholog thereof. Neuraminidase is an exo-alpha-sialidase on the surface of some viruses that enables the virus to be released from the host cell.


Toll-like receptor 9 isoform h2 (human)

A Toll-like receptor 9 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NR96-2.


metabotropic glutamate receptor 8 isoform 1 (mouse)

A metabotropic glutamate receptor 8 isoform 1 that is encoded in the genome of mouse.


exopolyphosphatase PRUNE1 isoform h2 (human)

An exopolyphosphatase PRUNE1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q86TP1-2.


fibroblast growth factor receptor 1 isoform AlphaA3 (human)

A fibroblast growth factor receptor 1 isoform AlphaA3 that is encoded in the genome of human.


gamma-aminobutyric acid receptor subunit rho-1, signal peptide removed form (human)

A gamma-aminobutyric acid receptor subunit rho-1 (human) that has had the signal peptide removed. UniProtKB:P24046, 22-479.


alpha-1-acid glycoprotein 1 N-glycosylated 13 (human)

An alpha-1-acid glycoprotein 1 (human) that has been N-glycosylated at the residue equivalent to Asn-33 of the amino acid sequence represented by UniProtKB:P02763-1, in which the glycan composition is represented by GlyTouCan:G85144OK. Example: UniProtKB:P02763-1, Asn-33, MOD:00160~GNO:G85144OK.


SYK/ZAP-70 family tyrosine-protein kinase

A protein that is a translation product of the human SYK or ZAP70 genes, 1:1 orthologs thereof, or a semi-ortholog thereof.


myosin light chain kinase, smooth muscle isoform h8 (human)

A myosin light chain kinase, smooth muscle (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q15746-10.


angiotensin-converting enzyme N-glycosylated 1 (rat)

An angiotensin-converting enzyme (rat) that has been N-glycosylated at the residue equivalent to Asn-720 of the amino acid sequence represented by UniProtKB:P47820-1, in which the glycan structure is represented by GlyTouCan:G09775CH. Example: UniProtKB:P47820-1, Asn-720, MOD:00160~GNO:G09775CH.


transient receptor potential cation channel subfamily V member 4 phosphorylated 1 (mouse)

A transient receptor potential cation channel subfamily V member 4 (mouse) that has been phosphorylated at Tyr-253. UniProtKB:Q9EPK8, Tyr-253, MOD:00048.


bromodomain-containing protein 9

A protein that is a translation product of the human BRD9 gene or a 1:1 ortholog thereof.


serine hydroxymethyltransferase, cytosolic isoform h4 (human)

A serine hydroxymethyltransferase, cytosolic (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P34896-4.


bifunctional protein GlmU

A protein that is a translation product of the Escherichia coli K-12 glmU gene or a 1:1 ortholog thereof.


major prion protein N-glycosylated 18 (mouse)

A major prion protein (mouse) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P04925-1, in which the glycan structure is represented by GlyTouCan:G65365UP. Example: UniProtKB:P04925-1, Asn-180, MOD:00160~GNO:G65365UP.


5'-AMP-activated protein kinase subunit beta-1

A protein that is a translation product of the human PRKAB1 gene or a 1:1 ortholog thereof.


vascular endothelial growth factor receptor 2 N-glycosylated 32 (mouse)

A vascular endothelial growth factor receptor 2 (mouse) that has been N-glycosylated at the residue equivalent to Asn-702 of the amino acid sequence represented by UniProtKB:P35918-1, in which the glycan composition is represented by GlyTouCan:G80920RR. Example: UniProtKB:P35918-1, Asn-702, MOD:00160~GNO:G80920RR.


A G-protein coupled receptor 18/55/119 that is a translation product of the human GPR119 gene or a 1:1 ortholog thereof.


coagulation factor X N-glycosylated 15 (human)

A coagulation factor X (human) that has been N-glycosylated at the residue equivalent to Asn-221 of the amino acid sequence represented by UniProtKB:P00742-1, in which the glycan structure is represented by GlyTouCan:G88068QT. Example: UniProtKB:P00742-1, Asn-221, MOD:00160~GNO:G88068QT.


serine/threonine-protein kinase receptor R3 sequence variant A482V (human)

A serine/threonine-protein kinase receptor R3 (human) that has a Val residue at the position equivalent to Ala-482 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Ala-482, CHEBI:30015.


pyruvate kinase PKM

A protein that is a translation product of the human PKM gene or a 1:1 ortholog thereof.


protein phosphatase 3 catalytic subunit alpha

A protein that is a translation product of the human PPP3CA gene or a 1:1 ortholog thereof.


major prion protein N-glycosylated 8 (mouse)

A major prion protein (mouse) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P04925-1, in which the glycan structure is represented by GlyTouCan:G26896YH. Example: UniProtKB:P04925-1, Asn-180, MOD:00160~GNO:G26896YH.


complement C1s subcomponent

A protein that is a translation product of the human C1S gene or a 1:1 ortholog thereof.


epidermal growth factor receptor N-glycosylated 7 (human)

An epidermal growth factor receptor (human) that has been N-glycosylated at the residue equivalent to Asn-528 of the amino acid sequence represented by UniProtKB:P00533-1, in which the glycan structure is represented by GlyTouCan:G83461WR. Example: UniProtKB:P00533-1, Asn-528, MOD:00160~GNO:G83461WR.


CD3 gamma

A CD3 subunit with immunoglobulin domain that is a translation product of the human CD3G gene or a 1:1 ortholog thereof.


serine/threonine-protein kinase MRCK alpha isoform h6 (human)

A serine/threonine-protein kinase MRCK alpha (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5VT25-6.


ryanodine receptor 3 isoform h1 (human)

A ryanodine receptor 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q15413-1.


NT-3 growth factor receptor isoform 2 (human)

An NT-3 growth factor receptor isoform 2 that is encoded in the genome of human.


A vertebrate-like neuraminidase that is a translation product of the human NEU3 gene or a 1:1 ortholog thereof.


sodium channel subunit beta-4 isoform h3 (human)

A sodium channel subunit beta-4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8IWT1-3.


coagulation factor VII N-glycosylated 2 (human)

A coagulation factor VII (human) that has been N-glycosylated at the residue equivalent to Asn-205 of the amino acid sequence represented by UniProtKB:P08709-1, in which the glycan structure is represented by GlyTouCan:G08146BT. Example: UniProtKB:P08709-1, Asn-205, MOD:00160~GNO:G08146BT.


non-receptor tyrosine-protein kinase TNK1

A protein that is a translation product of the human TNK1 gene or a 1:1 ortholog thereof.


gamma-aminobutyric acid receptor subunit rho-1 isoform h1 (human)

A gamma-aminobutyric acid receptor subunit rho-1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P24046-1.


voltage-gated potassium channel subunit KCNQ1 sequence variant S373P (human)

A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Pro residue at the position equivalent to Ser-373 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ser-373, CHEBI:50342.


phospholipase A2 isoform 1 (rat)

A phospholipase A2 isoform 1 that is encoded in the genome of rat.


ribosomal protein S6 kinase alpha-1 phosphorylated 1 (human)

A ribosomal protein S6 kinase alpha-1 (human) that has been post-translationally modified to include phosphoserine at positions 221, 363 and 380, and phosphothreonine at position 573 of the amino acid sequence represented by UniProtKB:Q15418. UniProtKB:Q15418, Ser-221/Ser-363/Ser-380, MOD:00046|Thr-573, MOD:00047.


membrane primary amine oxidase

A protein that is a translation product of the human AOC3 gene or a 1:1 ortholog thereof.


plasminogen O-glycosylated 24 (human)

A plasminogen (human) that has been O-glycosylated at the residue equivalent to Thr-710 of the amino acid sequence represented by UniProtKB:P00747-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P00747-1, Thr-710, MOD:00005~GNO:G29068FM.


equilibrative nucleoside transporter 1 O-glycosylated 1 (human)

An equilibrative nucleoside transporter 1 (human) that has been O-glycosylated at the residue equivalent to Ser-63 of the amino acid sequence represented by UniProtKB:Q99808-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:Q99808-1, Ser-63, MOD:00002~GNO:G29068FM.


platelet-derived growth factor receptor beta isoform h2 (human)

A platelet-derived growth factor receptor beta (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P09619-2.


protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha, initiator methionine removed form (human)

A protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha (human) that has had the initiator methionine removed. UniProtKB:P49354, 2-379.


adenosine receptor A3

An adenosine receptor protein that is a translation product of the human ADORA3 gene or a 1:1 ortholog thereof.


ATP-binding cassette sub-family C member 4 isoform h2 (human)

An ATP-binding cassette sub-family C member 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O15439-2.


serine/threonine-protein kinase tousled-like 1 isoform h5 (human)

A serine/threonine-protein kinase tousled-like 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UKI8-5.


adenylate cyclase type 8 isoform r2 (rat)

An adenylate cyclase type 8 (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P40146-2.


B-cell receptor CD22, signal peptide removed form (human)

A B-cell receptor CD22 (human) that has had the signal peptide removed. UniProtKB:P20273, 20-847.


galectin-9 isoform h2 (human)

A galectin-9 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O00182-2.


gamma-aminobutyric acid receptor subunit alpha-2 isoform 1 (mouse)

A gamma-aminobutyric acid receptor subunit alpha-2 isoform 1 that is encoded in the genome of mouse.


vascular endothelial growth factor A isoform hL-VEGF189 (human)

A vascular endothelial growth factor A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P15692-13.


membrane-associated progesterone receptor component 1 isoform 1 (human)

A membrane-associated progesterone receptor component 1 isoform 1 that is encoded in the genome of human.


dehydrogenase/reductase SDR family member 9

A protein that is a translation product of the human DHRS9 gene or a 1:1 ortholog thereof.


integrin alpha-IIb

An integrin alpha lacking A domain that is a translation product of the human ITGA2B gene or a 1:1 ortholog thereof.


farnesyl pyrophosphate synthase isoform 1 (mouse)

A farnesyl pyrophosphate synthase isoform 2 that is encoded in the genome of mouse.


heparanase isoform h1 (human)

A heparanase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y251-1.


vitamin D3 receptor isoform h2 (human)

A vitamin D3 receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P11473-2.


ephrin type-A receptor 4 isoform 1 (human)

An ephrin type-A receptor 4 isoform 1 that is encoded in the genome of human.


estrogen receptor isoform h2 (human)

An estrogen receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P03372-2.


apoptosis regulator Bcl-2 isoform 1 phosphorylated 4 (human)

An apoptosis regulator Bcl-2 isoform 1 phosphorylated 4 in human. UniProtKB:P10415-1, Thr-69, MOD:00047|Ser-87, MOD:00046.


transmembrane domain-containing protein TMIGD3 isoform 2 (human)

A transmembrane domain-containing protein TMIGD3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P0DMS9-2.


thymidine kinase 2, mitochondrial, transit peptide removed form (human)

A thymidine kinase 2, mitochondrial (human) that has had the transit peptide removed. UniProtKB:O00142, 34-265.


heparanase 50 kDa subunit (human)

A heparanase 50 kDa subunit in human. Example: UniProtKB:Q9Y251-1, 158-543.


cytochrome c oxidase subunit 2

A protein that is a translation product of the human MT-CO2 gene or a 1:1 ortholog thereof.


cytotoxic T-lymphocyte protein 4 isoform h1 (human)

A cytotoxic T-lymphocyte protein 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P16410-1.


voltage-gated potassium channel KCNG1

A modulatory voltage-gated potassium channel subunit KCNG that is a translation product of the human KCNG1 gene or a 1:1 ortholog thereof.


oxysterols receptor LXR-alpha isoform h1 (human)

An oxysterols receptor LXR-alpha (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13133-1.


vasopressin/oxytocin receptor

A rhodopsin-like G-protein coupled receptor that is a translation product of the human AVPR1A, AVPR1B, AVPR2, or OXTR genes, 1:1 orthologs thereof, or a semi-ortholog thereof. These receptors bind vasopressin or oxytocin or related nonapeptides.


tryptase alpha/beta-1 isoform h2 (human)

A tryptase alpha/beta-1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q15661-2.


taste receptor type 2 member 4

A taste receptor type 2 that is a translation product of the human TAS2R4 gene or a 1:1 ortholog thereof.


lethal(3)malignant brain tumor-like protein 1 isoform h1 (human)

A lethal(3)malignant brain tumor-like protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y468-1.


NACHT, LRR and PYD domains-containing protein 3

A protein that is a translation product of the human NLRP3 gene or a 1:1 ortholog thereof.


peroxisomal acyl-coenzyme A oxidase 3 isoform 1 (human)

A peroxisomal acyl-coenzyme A oxidase 3 isoform 1 that is encoded in the genome of human.


cyclin-dependent kinase 11B isoform hSV1 (human)

A cyclin-dependent kinase 11B (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P21127-2.


phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform h2 (human)

A phosphatidylinositol 4-phosphate 5-kinase type-1 alpha (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q99755-2.


proto-oncogene tyrosine-protein kinase receptor Ret isoform 2 (human)

A proto-oncogene tyrosine-protein kinase receptor Ret isoform 2 that is encoded in the genome of human.


exopolyphosphatase PRUNE1 isoform h4 (human)

An exopolyphosphatase PRUNE1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q86TP1-4.


tumor necrosis factor receptor superfamily member 8

A protein that is a translation product of the human TNFRSF8 gene or a 1:1 ortholog thereof.


sodium channel protein type 5 subunit alpha isoform h4 (human)

A sodium channel protein type 5 subunit alpha (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14524-4.


T-lymphocyte activation antigen CD80 isoform h1 (human)

A T-lymphocyte activation antigen CD80 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P33681-1.


phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2

A protein that is a translation product of the human INPPL1 gene or a 1:1 ortholog thereof.


amiloride-sensitive sodium channel subunit alpha isoform h2 (human)

An amiloride-sensitive sodium channel subunit alpha (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P37088-2.


antithrombin-III O-glycosylated 1 (human)

An antithrombin-III (human) that has been O-glycosylated at the residue equivalent to Thr-418 of the amino acid sequence represented by UniProtKB:P01008-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P01008-1, Thr-418, MOD:00005~GNO:G29068FM.


retinoic acid receptor RXR-gamma isoform 1 (mouse)

A retinoic acid receptor RXR-gamma (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P28705-1.


aurora kinase C isoform h1 (human)

An aurora kinase C (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UQB9-1.


von Willebrand factor O-glycosylated 9 (human)

A von Willebrand factor (human) that has been O-glycosylated at the residue equivalent to Thr-1256 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P04275-1, Thr-1256, MOD:00005~GNO:G43417UB.


microtubule-associated protein tau sequence variant A152T (human)

A microtubule-associated protein tau sequence variant (human) that has a Thr residue at the position equivalent to Ala-152 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; Ala-469 in PNS-Tau). Example: UniProtKB:P10636-8, Ala-152, CHEBI:30013.


beta-adrenergic receptor kinase 1, initiator methionine removed form (human)

A beta-adrenergic receptor kinase 1, initiator methionine removed form in human.


SAM decarboxylase proenzyme

A protein that is a translation product of the human AMD1 gene or a 1:1 ortholog thereof.


sodium- and chloride-dependent GABA transporter 2 isoform h2 (human)

A sodium- and chloride-dependent GABA transporter 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NSD5-2.


MHC class I histocompatibility antigen A alpha chain

An MHC class I histocompatibility antigen alpha chain that is a translation product of the human HLA-A gene, a 1:1 ortholog thereof, or pro-orthologs thereof.


acid-sensing ion channel protein

A ligand-gated ion channel protein that has acid-sensing ion channel activity. An acid-sensing (aka proton-gated) ion channel opens when an extracellular proton has been bound by the channel complex, and enables the transmembrane transfer of a sodium ion.


glutamate receptor ionotropic, kainate 4 isoform 1 (human)

A glutamate receptor ionotropic, kainate 4 isoform 1 that is encoded in the genome of human.


amyloid-beta precursor protein sequence variant E246K (human)

An amyloid-beta precursor protein sequence variant (human) that has a Lys residue at the position equivalent to Glu-246 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Glu-246, CHEBI:29967.


voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform h4 (human)

A voltage-dependent P/Q-type calcium channel subunit alpha-1A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O00555-4.


glucocorticoid receptor isoform Alpha-B (human)

A glucocorticoid receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P04150-8.


cholinesterase, signal peptide removed form (human)

A cholinesterase (human) that has had the signal peptide removed. UniProtKB:P06276, 29-602.


major prion protein N-glycosylated 17 (mouse)

A major prion protein (mouse) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P04925-1, in which the glycan structure is represented by GlyTouCan:G65219TP. Example: UniProtKB:P04925-1, Asn-180, MOD:00160~GNO:G65219TP.


protein-L-isoaspartate(D-aspartate) O-methyltransferase isoform h2 (human)

A protein-L-isoaspartate(D-aspartate) O-methyltransferase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P22061-2.


myosin light chain kinase, smooth muscle isoform hDel-1790 (human)

A myosin light chain kinase, smooth muscle (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q15746-6.


cyclin-dependent kinase 12

A CDK2-related kinase that is a translation product of the human CDK12 gene or a 1:1 ortholog thereof.


oxytocin receptor

A vasopressin/oxytocin receptor that is a translation product of the human OXTR gene or a 1:1 ortholog thereof. The preferred ligand is oxytocin.


epidermal growth factor receptor, signal peptide removed phosphorylated 1 (human)

An epidermal growth factor receptor, signal peptide removed form (human) that has been post-translationally modified by autocatalysis to include phosphotyrosine at positions 1092, 1110, 1172 and 1197 of the amino acid sequence represented by UniProtKB:P00533. UniProtKB:P00533, 25-1210, Tyr-1092/Tyr-1110/Tyr-1172/Tyr-1197, MOD:00048.


phosphatidylinositol 5-phosphate 4-kinase type-2 beta isoform 1 (human)

A phosphatidylinositol 5-phosphate 4-kinase type-2 beta isoform 1 that is encoded in the genome of human.


transient receptor potential cation channel TRPV1

A transient receptor potential cation channel TRPV that is a translation product of the human TRPV1 gene or a 1:1 ortholog thereof.


multidrug and toxin extrusion protein 1

A protein that is a translation product of the human SLC47A1 gene or a 1:1 ortholog thereof.


fibroblast growth factor receptor 1 isoform 1 (human)

A fibroblast growth factor receptor 1 isoform 1 that is encoded in the genome of human.


interleukin-1 receptor-associated kinase 1 phosphorylated 5 (human)

An interleukin-1 receptor-associated kinase 1 (human) that has been phosphorylated on the residue at the position equivalent to Ser-376, and phosphothreonine at position 387 of the amino acid sequence represented by UniProtKB:P51617. UniProtKB:P51617, Ser-376, MOD:00046|Thr-387, MOD:00047.