Preferred Name

PRESENILIN 1

Synonyms

PS1

ID

http://purl.bioontology.org/ontology/OMIM/104311

altLabel

PS1

ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES

ALZHEIMER DISEASE, FAMILIAL, 3

ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES

CARDIOMYOPATHY, DILATED, 1U

ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA

PSEN1

ACNE INVERSA, FAMILIAL, 3

DEMENTIA, FRONTOTEMPORAL

ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES

ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS

S182

PICK DISEASE OF BRAIN

cui

C3151038

C0338451

C1843013

C3160720

C1418985

C4015780

C4015781

C1843014

C1843015

C4015782

C0236642

Gene Locus

14q24.3

Gene Symbol

AD3

ACNINV3

PSEN1

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/104311.0006

http://purl.bioontology.org/ontology/OMIM/104311.0027

http://purl.bioontology.org/ontology/OMIM/104311.0026

http://purl.bioontology.org/ontology/OMIM/104311.0018

http://purl.bioontology.org/ontology/OMIM/104311.0019

http://purl.bioontology.org/ontology/OMIM/104311.0007

http://purl.bioontology.org/ontology/OMIM/104311.0030

http://purl.bioontology.org/ontology/OMIM/104311.0010

http://purl.bioontology.org/ontology/OMIM/104311.0022

http://purl.bioontology.org/ontology/OMIM/104311.0028

http://purl.bioontology.org/ontology/OMIM/104311.0004

http://purl.bioontology.org/ontology/OMIM/104311.0002

http://purl.bioontology.org/ontology/OMIM/104311.0023

http://purl.bioontology.org/ontology/OMIM/104311.0024

http://purl.bioontology.org/ontology/OMIM/104311.0035

http://purl.bioontology.org/ontology/OMIM/104311.0015

http://purl.bioontology.org/ontology/OMIM/104311.0036

http://purl.bioontology.org/ontology/OMIM/104311.0011

http://purl.bioontology.org/ontology/OMIM/104311.0009

http://purl.bioontology.org/ontology/OMIM/104311.0008

http://purl.bioontology.org/ontology/OMIM/104311.0003

http://purl.bioontology.org/ontology/OMIM/104311.0029

http://purl.bioontology.org/ontology/OMIM/104311.0017

http://purl.bioontology.org/ontology/OMIM/104311.0016

http://purl.bioontology.org/ontology/OMIM/104311.0037

http://purl.bioontology.org/ontology/OMIM/104311.0021

http://purl.bioontology.org/ontology/OMIM/104311.0020

http://purl.bioontology.org/ontology/OMIM/104311.0031

http://purl.bioontology.org/ontology/OMIM/104311.0034

http://purl.bioontology.org/ontology/OMIM/104311.0032

http://purl.bioontology.org/ontology/OMIM/104311.0025

http://purl.bioontology.org/ontology/OMIM/104311.0001

http://purl.bioontology.org/ontology/OMIM/104311.0039

http://purl.bioontology.org/ontology/OMIM/104311.0013

http://purl.bioontology.org/ontology/OMIM/104311.0038

http://purl.bioontology.org/ontology/OMIM/104311.0014

http://purl.bioontology.org/ontology/OMIM/104311.0012

http://purl.bioontology.org/ontology/OMIM/104311.0033

http://purl.bioontology.org/ontology/OMIM/104311.0005

MIMTYPEMEANING

Gene with known sequence

notation

104311

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

PRESENILIN 1

tui

T028

T033

T047

Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/LNC/LP33148-5 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://www.orpha.net/ORDO/Orphanet_118099 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C564330 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/ICD10CM/G31.0 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bioontology.org/ontology/MESH/C564329 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C566296 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C536598 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D020774 Medical Subject Headings / 医学主题词表 CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C95117 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/ICD10CM/G31.01 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.obolibrary.org/obo/PR_000013344 Protein Ontology / 蛋白质本体 LOOM
http://purl.bioontology.org/ontology/MESH/D053764 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bmicc.cn/ontology/ICD10CN/F02.0 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/MESH/D057180 Medical Subject Headings / 医学主题词表 CUI