loading...| Preferred Name |
ALZHEIMER DISEASE, FAMILIAL, 1 |
| Synonyms |
ALZHEIMER DISEASE |
| ID |
http://purl.bioontology.org/ontology/OMIM/104300 |
| altLabel |
ALZHEIMER DISEASE AD ALZHEIMER DISEASE, EARLY-ONSET, WITH CEREBRAL AMYLOID ANGIOPATHY PRESENILE AND SENILE DEMENTIA AD1 ALZHEIMER DISEASE, PROTECTION AGAINST |
| cui |
C1863053 C0002395 C1863052 C3549448 |
| Gene Locus |
6p21.3 |
| Gene Symbol |
HFE1 HFE TFQTL2 HLA-H MVCD7 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000764 http://purl.bioontology.org/ontology/OMIM/MTHU019618 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
104300 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
ALZHEIMER DISEASE, FAMILIAL, 1 |
| Scope Statement |
Genetic heterogeneity [MISCELLANEOUS] Caused by mutation in the amyloid beta (A4) precursor protein gene (APP, 104760.0002) [MOLECULAR BASIS] Susceptibility conferred by mutation in the alpha-2-macroglobulin gene (A2M, 103950.0005) [MOLECULAR BASIS] |
| tui |
T033 T047 |