Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

PHOSPHATASE AND TENSIN HOMOLOG
Synonyms

SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC

PROSTATE CANCER, SOMATIC

MALIGNANT MELANOMA, SOMATIC

PTEN

MMAC1

ENDOMETRIAL CARCINOMA

LHERMITTE-DUCLOS DISEASE

PROTEUS-LIKE SYNDROME

PTEN1

MACROCEPHALY/AUTISM SYNDROME

COWDEN SYNDROME 1

PHOSPHATASE AND TENSIN HOMOLOG DELETED ON CHROMOSOME 10

MUTATED IN MULTIPLE ADVANCED CANCERS 1

GLIOMA SUSCEPTIBILITY 2

MENINGIOMA
ID

http://purl.bioontology.org/ontology/OMIM/601728
altLabel

SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC

PROSTATE CANCER, SOMATIC

MALIGNANT MELANOMA, SOMATIC

PTEN

MMAC1

ENDOMETRIAL CARCINOMA

LHERMITTE-DUCLOS DISEASE

PROTEUS-LIKE SYNDROME

PTEN1

MACROCEPHALY/AUTISM SYNDROME

COWDEN SYNDROME 1

PHOSPHATASE AND TENSIN HOMOLOG DELETED ON CHROMOSOME 10

MUTATED IN MULTIPLE ADVANCED CANCERS 1

GLIOMA SUSCEPTIBILITY 2

MENINGIOMA
cui

C4016742

C1854416

C4015779

C4016283

C1866398

C2751642

C0476089

C0025286

C0694888

C0391826

C0018553
Gene Locus

10q23.31
Gene Symbol

CWS1

MMAC1

PTEN

GLM2
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/601728.0023

http://purl.bioontology.org/ontology/OMIM/601728.0022

http://purl.bioontology.org/ontology/OMIM/601728.0021

http://purl.bioontology.org/ontology/OMIM/601728.0024

http://purl.bioontology.org/ontology/OMIM/601728.0025

http://purl.bioontology.org/ontology/OMIM/601728.0026

http://purl.bioontology.org/ontology/OMIM/601728.0029

http://purl.bioontology.org/ontology/OMIM/601728.0027

http://purl.bioontology.org/ontology/OMIM/601728.0020

http://purl.bioontology.org/ontology/OMIM/601728.0028

http://purl.bioontology.org/ontology/OMIM/601728.0037

http://purl.bioontology.org/ontology/OMIM/601728.0034

http://purl.bioontology.org/ontology/OMIM/601728.0035

http://purl.bioontology.org/ontology/OMIM/601728.0038

http://purl.bioontology.org/ontology/OMIM/601728.0033

http://purl.bioontology.org/ontology/OMIM/601728.0031

http://purl.bioontology.org/ontology/OMIM/601728.0036

http://purl.bioontology.org/ontology/OMIM/601728.0032

http://purl.bioontology.org/ontology/OMIM/601728.0030

http://purl.bioontology.org/ontology/OMIM/601728.0039

http://purl.bioontology.org/ontology/OMIM/601728.0042

http://purl.bioontology.org/ontology/OMIM/601728.0040

http://purl.bioontology.org/ontology/OMIM/601728.0045

http://purl.bioontology.org/ontology/OMIM/601728.0041

http://purl.bioontology.org/ontology/OMIM/601728.0043

http://purl.bioontology.org/ontology/OMIM/601728.0044

http://purl.bioontology.org/ontology/OMIM/601728.0014

http://purl.bioontology.org/ontology/OMIM/601728.0015

http://purl.bioontology.org/ontology/OMIM/601728.0013

http://purl.bioontology.org/ontology/OMIM/601728.0016

http://purl.bioontology.org/ontology/OMIM/601728.0010

http://purl.bioontology.org/ontology/OMIM/601728.0017

http://purl.bioontology.org/ontology/OMIM/601728.0019

http://purl.bioontology.org/ontology/OMIM/601728.0012

http://purl.bioontology.org/ontology/OMIM/601728.0011

http://purl.bioontology.org/ontology/OMIM/601728.0018

http://purl.bioontology.org/ontology/OMIM/601728.0004

http://purl.bioontology.org/ontology/OMIM/601728.0009

http://purl.bioontology.org/ontology/OMIM/601728.0007

http://purl.bioontology.org/ontology/OMIM/601728.0003

http://purl.bioontology.org/ontology/OMIM/601728.0005

http://purl.bioontology.org/ontology/OMIM/601728.0008

http://purl.bioontology.org/ontology/OMIM/601728.0006

http://purl.bioontology.org/ontology/OMIM/601728.0001

http://purl.bioontology.org/ontology/OMIM/601728.0002
MIMTYPEMEANING

Gene with known sequence
Moved from

602084
notation

601728
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

PHOSPHATASE AND TENSIN HOMOLOG
tui

T047

T033

T191

T028
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Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C565342 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/716862002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CST/CARCINOMA%20ENDOMETR COSTART CUI
http://purl.bioontology.org/ontology/CSP/2012-5515 CRISP CUI
http://purl.bioontology.org/ontology/LNC/LP61787-5 LOINC CUI
http://purl.bioontology.org/ontology/SNOMEDCT/67944007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000601787 PDQ CUI
http://purl.bioontology.org/ontology/SCTSPA/716862002 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D016715 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D016715 MSHFRE CUI
http://purl.bioontology.org/ontology/CSP/2016-1566 CRISP CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000038737 PDQ CUI
http://purl.bioontology.org/ontology/MSHFRE/D016889 MSHFRE CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000038737 PDQ CUI
http://purl.bioontology.org/ontology/MDRFRE/10007063 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/254878006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10007342 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10014733 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10014743 MDRFRE CUI
http://purl.bioontology.org/ontology/LNC/LA15683-8 LOINC CUI
http://purl.bioontology.org/ontology/MEDDRA/10007063 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10014735 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10014735 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/254878006 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10014743 MEDDRA CUI
http://purl.bioontology.org/ontology/ICPC2P/X77007 ICPC2P CUI
http://purl.bioontology.org/ontology/MDRFRE/10014733 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D016889 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10007063 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10014733 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10014735 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10007342 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/X78XO RCD CUI
http://purl.bioontology.org/ontology/CST/CARCINOMA%20ENDOMETR COSTART CUI
http://purl.bioontology.org/ontology/CSP/2016-1566 CRISP CUI
http://purl.bioontology.org/ontology/MDRGER/10014743 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10007342 MEDDRA CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000580900 PDQ CUI
http://purl.bioontology.org/ontology/MEDDRA/10027191 MEDDRA CUI
http://purl.bioontology.org/ontology/CSP/2012-5515 CRISP CUI
http://purl.bioontology.org/ontology/MSHFRE/D008579 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10027191 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/D32.9 ICD10CM CUI
http://purl.bioontology.org/ontology/SNMI/M-95300 SNMI CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0025286 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MDRGER/10027191 MDRGER CUI
http://purl.bioontology.org/ontology/ICPC2P/N75001 ICPC2P CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000580900 PDQ CUI
http://purl.bioontology.org/ontology/MESH/D008579 MESH CUI
http://purl.bioontology.org/ontology/RCD/XM0C9 RCD CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001979 NDFRT CUI
http://purl.bioontology.org/ontology/LNC/MTHU053335 LOINC CUI
http://purl.bioontology.org/ontology/SNOMEDCT/128791005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/128791005 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D006223 MSHFRE CUI
http://purl.bioontology.org/ontology/MESH/D006223 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D4-01060 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/67944007 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10051906 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D4-01005 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10051915 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10051915 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/58037000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10051916 MEDDRA CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000601787 PDQ CUI
http://purl.bioontology.org/ontology/MSHFRE/D006223 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10051916 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D006223 MESH CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001406 NDFRT CUI
http://purl.bioontology.org/ontology/MDRGER/10051906 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10051906 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/X50H3 RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10051915 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10051916 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/58037000 SCTSPA CUI
http://www.orpha.net/ORDO/Orphanet_118128 ORDO LOOM
http://www.limics.org/hrdo/rdfns#gen_id_15166 HRDO LOOM