Mitochondria Phenome Knowledgebase

Gene Symbol CASP8
Ensembl ID ENSG00000064012 Entrez 841
Gene Alias CAP4; FLICE; MACH; MCH5; MGC78473 Subcellular Locations Cytoplasm Mitochondria
Map Position 2q33-q34 Subcell PMIDs 10822379
OMIM Gene 601763 Protein Complex
Swissprot ID Q14790 Swissprot Description Caspase-8 precursor
OMIM Disease Colorectal cancer (CRC) [114500]; Hepatocellular carcinoma (HCC) [114550]; Autoimmune lymphoproliferative syndrome type 2B (ALPS2B) [607271]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
CASP8 114500 Neoplasms oncologic #12949717
CASP8 114550 Neoplasms oncologic #15531912
CASP8 114500 Digestive-system-neoplasms oncologic #12949717
CASP8 114550 Digestive-system-neoplasms oncologic #15531912
CASP8 114500 Colorectal-neoplasms colon carcinomas; colorectal carcinomas; carcinogenesis oncologic 12949717
CASP8 114550 Hepatocellular-carcinoma hepatocellular cancer; HCC oncologic 15531912
CASP8 607271 Digestive-system-diseases gastrointestinal #12353035 #15492869
CASP8 607271 Liver-diseases gastrointestinal #15492869
CASP8 607271 Hepatomegaly liver enlarged gastrointestinal 15492869
CASP8 607271 Diarrhea chronic diarrhea gastrointestinal 12353035
CASP8 607271 Respiratory-tract-diseases respiratory #12353035
CASP8 607271 Bronchial-diseases respiratory #12353035
CASP8 607271 Asthma asthma; reactive airways diseases respiratory 12353035
CASP8 607271 Lung-diseases respiratory #12353035
CASP8 607271 Pneumonia respiratory 12353035
CASP8 607271 Hematologic-diseases hematologic #12353035 #15492869
CASP8 607271 Anemia hematologic 15492869
CASP8 607271 Blood-platelet-disorders hematologic #15492869
CASP8 607271 Thrombocytopenia hematologic 15492869
CASP8 607271 Blood-protein-disorders hematologic #12353035
CASP8 607271 Dysgammaglobulinemia IGG decreased; IGM decreased; T cell dysfunction hematologic 12353035
CASP8 607271 Bone-marrow-diseases erythroid hyperplasia hematologic 15492869
CASP8 607271 Leukocyte-disorders hematologic #15492869
CASP8 607271 Leukopenia hematologic 15492869
CASP8 607271 Lymphatic-diseases lymphadenopathy; chronic; noninfectious; lymph nodes enlarged; lymphoproliferative disorder hematologic 12353035 15492869
CASP8 607271 Skin-diseases dermatologic #12353035
CASP8 607271 Dermatitis eczema dermatologic 12353035
CASP8 607271 Immune-system-diseases immunologic #12353035 #15492869
CASP8 607271 Immune-deficiency defective lymphocyte apoptosis; autoimmunity; immunodeficiency; chronic infections; recurrent infections; sinopulmonary infections; herpes simplex infections immunologic 12353035 15492869
CASP8 607271 Infections recurrent; mucocutaneous infections; viral infections; sinopulmonary infections; herpes simplex infections; opportunistic infections immunologic 12353035 15492869
CASP8 607271 Body-temperature-changes miscellaneous #15492869
CASP8 607271 Fever pyretic miscellaneous 15492869
CASP8 607271 Splenomegaly splen enlarged miscellaneous 12353035 15492869
CASP8 607271 Growth-disorders miscellaneous #12353035
CASP8 607271 Failure-to-thrive miscellaneous 12353035
CASP8 607271 Growth-deficiency short stature miscellaneous 12353035

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