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loading...| Preferred Name |
ALZHEIMER DISEASE, FAMILIAL, 1 |
|
| Synonyms |
AD |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/104300 |
|
| altLabel |
AD ALZHEIMER DISEASE AD1 ALZHEIMER DISEASE, EARLY-ONSET, WITH CEREBRAL AMYLOID ANGIOPATHY PRESENILE AND SENILE DEMENTIA ALZHEIMER DISEASE, PROTECTION AGAINST |
|
| cui |
C3549448 C1863053 C1863052 C0002395 |
|
| Gene Locus |
6p21.3 |
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| Gene Symbol |
HFE1 HLA-H HFE TFQTL2 MVCD7 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU019619 http://purl.bioontology.org/ontology/OMIM/MTHU019618 |
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| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
104300 |
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| OMIM Entry Type |
3 |
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| OMIM MimType Value |
pound |
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| prefLabel |
ALZHEIMER DISEASE, FAMILIAL, 1 |
|
| Scope Statement |
Genetic heterogeneity [MISCELLANEOUS] Susceptibility conferred by mutation in the alpha-2-macroglobulin gene (A2M, 103950.0005) [MOLECULAR BASIS] Caused by mutation in the amyloid beta (A4) precursor protein gene (APP, 104760.0002) [MOLECULAR BASIS] |
|
| tui |
T047 T033 |
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