Details of MLH1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| MLH1 | COCA2 | P40692 | MLH1_HUMAN | 4292
| ENSG00000076242
| DNA mismatch repair protein Mlh1 | 608089 |
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 |
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