loading...| Preferred Name |
BREAST CANCER |
|
| Synonyms |
BREAST CANCER, FAMILIAL |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/114480 |
|
| altLabel |
BREAST CANCER, FAMILIAL BREAST CANCER, FAMILIAL MALE |
|
| cui |
C0346153 C1861906 C0006142 |
|
| Gene Locus |
11q22.3 |
|
| Gene Symbol |
AT1 ATM ATA |
|
| Has manifestation | ||
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
600048 605365 |
|
| notation |
114480 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
BREAST CANCER |
|
| Scope Statement |
Caused by mutation in the tumor protein p53 gene (TP53, 191170.0023) [MOLECULAR BASIS] Caused by mutation in the homolog of the S. cerevisiae RAD51A gene (RAD51A, 179617.0001) [MOLECULAR BASIS] Caused by mutation in the solute carrier family 22, member 1-like gene (SLC22A1L, 602631.0001) [MOLECULAR BASIS] Genetic heterogeneity [MISCELLANEOUS] Caused by mutation in the BRCA1-associated C-terminal helicase 1 gene (BRIP1, 605882.0001) [MOLECULAR BASIS] Caused by mutation in the breast cancer type 1 gene (BRCA1, 113705.0001) [MOLECULAR BASIS] Susceptibility conferred by mutation in the checkpoint kinase 2 gene (CHEK2, 604373.0007) [MOLECULAR BASIS] Caused by mutation in the breast cancer type 2 gene (BRCA2, 600185.0001) [MOLECULAR BASIS] |
|
| tui |
T191 |