Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

PRESENILIN 1

Synonyms

PICK DISEASE OF BRAIN

ID

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

altLabel

PICK DISEASE OF BRAIN

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

S182

ALZHEIMER DISEASE, FAMILIAL, 3

ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES

CARDIOMYOPATHY, DILATED, 1U

PS1

DEMENTIA, FRONTOTEMPORAL

ACNE INVERSA, FAMILIAL, 3

ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS

ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES

PSEN1

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

cui

C1843015

C4015782

C1843013

C1843014

C3151038

C3160720

C1418985

C0338451

C0236642

C4015780

C4015781

Gene Locus

14q24.3

Gene Symbol

ACNINV3

PSEN1

AD3

Has allelic variant

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

MIMTYPEMEANING

Gene with known sequence

notation

104311

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

PRESENILIN 1

tui

T047

T033

T028

Delete Subject Author Type Created
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Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C564330 MESH CUI
http://purl.bioontology.org/ontology/MESH/C536598 MESH CUI
http://purl.bioontology.org/ontology/MESH/C564329 MESH CUI
http://purl.bioontology.org/ontology/MESH/C566296 MESH CUI
http://purl.bioontology.org/ontology/LNC/LP33148-5 LOINC CUI
http://purl.bioontology.org/ontology/ICD9CM/331.1 ICD9CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10068968 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D057180 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/230270009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10068968 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10CM/G31.0 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/230270009 SCTSPA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181125 NDFRT CUI
http://purl.bioontology.org/ontology/MEDDRA/10068968 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/X0034 RCD CUI
http://purl.bioontology.org/ontology/MSHFRE/D057180 MSHFRE CUI
http://purl.bioontology.org/ontology/RCD/F111. RCD CUI
http://purl.bioontology.org/ontology/MSHFRE/D020774 MSHFRE CUI
http://purl.bioontology.org/ontology/SNMI/DA-20021 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10009204 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D020774 MESH CUI
http://purl.bioontology.org/ontology/ICD9CM/331.11 ICD9CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10009204 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10035003 MDRGER CUI
http://purl.bioontology.org/ontology/NDFRT/N0000004183 NDFRT CUI
http://purl.bioontology.org/ontology/MEDDRA/10035003 MEDDRA CUI
http://purl.bioontology.org/ontology/CSP/0485-6612 CRISP CUI
http://purl.bioontology.org/ontology/ICD10CM/G31.01 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10035003 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10009204 MDRGER CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C95117 NCIT LOOM
http://purl.jp/bio/4/id/200906041793701653 IOBC LOOM
http://purl.obolibrary.org/obo/MESH_D053764 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D053764 RH-MESH LOOM
http://purl.obolibrary.org/obo/PR_000013344 PR LOOM
http://purl.obolibrary.org/obo/PR_000013344 NIFSTD LOOM
http://scai.fraunhofer.de/AlzheimerOntology#presenilin_1 ADO LOOM
http://www.orpha.net/ORDO/Orphanet_118099 ORDO LOOM
http://purl.bioontology.org/ontology/MESH/D053764 MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C95117 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.776.543.696.500 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00023526 PMAPP-PMO LOOM
http://id.nlm.nih.gov/mesh/D053764 MDM LOOM
http://purl.obolibrary.org/obo/IMR_0100731 HOIP LOOM
http://purl.obolibrary.org/obo/IMR_0100731 TXPO LOOM
http://www.limics.org/hrdo/rdfns#gen_id_15160 HRDO LOOM
http://doe-generated-ontology.com/OntoAD#C0299212 ONTOAD LOOM
http://www.ncbi.nlm.nih.gov/gene/19164 NIFSTD LOOM
http://purl.obolibrary.org/obo/OMIT_0025573 OMIT LOOM