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Details of MSH2 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| MSH2 | --- | P43246 | MSH2_HUMAN | 4436 | 2O8B 2O8C 2O8D 2O8E 2O8F 3THW 3THX 3THY 3THZ 2O8B 2O8C 2O8D 2O8E 2O8F 3THW 3THX 3THY 3THZ | ENSG00000095002 | cancers that begin | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Endometrial cancer (ENDMC) [MIM:608089]: A malignancy of endometrium | cancers that begin in cells that make and release mucus and other fluids. Note=Disease susceptibility is associated with variations affecting the gen | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]: An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal | HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer | Muir-Torre syndrome (MRTES) [MIM:158320]: Rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy. Note=The disease is caused by mutations affecting the gene represented in this entry. | 158320 | ||||
Phenotypes
Abnormality of blood and blood-forming tissues, Abnormality of cellular immune system, Abnormality of leukocytes, Abnormality of skin morphology, Abnormality of skin pigmentation, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the astrocytes, Abnormality of the breast, Abnormality of the central nervous system, Abnormality of the gastrointestinal tract, Abnormality of the genitourinary system, Abnormality of the glial cells, Abnormality of the immune system, Abnormality of the integument, Abnormality of the intestine, Abnormality of the large intestine, Abnormality of the nervous system, Abnormality of the skin, All, Astrocytoma, Autosomal dominant inheritance, Autosomal recessive inheritance, Axillary freckling, Basal cell carcinoma, Benign gastrointestinal tract tumors, Benign genitourinary tract neoplasm, Bowel diverticulosis, Breast carcinoma, Cafe-au-lait spot, Colon cancer, Colonic diverticulosis, Duodenal carcinoma, Ependymoma, Freckling, Gastrointestinal carcinoma, Generalized abnormality of skin, Glioma, Hematological neoplasm, Hypermelanotic macule, Hyperpigmentation of the skin, Irregular hyperpigmentation, Leukemia, Localized skin lesion, Lymphoma, Malignant gastrointestinal tract tumors, Malignant genitourinary tract tumor, Malignant neoplasm of the central nervous system, Medulloblastoma, Mode of inheritance, Morphological abnormality of the central nervous system, Neoplasm, Neoplasm by anatomical site, Neoplasm by histology, Neoplasm of striated muscle, Neoplasm of the breast, Neoplasm of the central nervous system, Neoplasm of the colon, Neoplasm of the gastrointestinal tract, Neoplasm of the genitourinary tract, Neoplasm of the large intestine, Neoplasm of the nervous system, Neoplasm of the skin, Neoplasm of the small intestine, Neuroblastic tumors, Neuroblastoma, Phenotypic abnormality, Rhabdomyosarcoma, Sarcoma.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||