Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

TUMOR PROTEIN p53
Synonyms

BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
ID

http://purl.bioontology.org/ontology/OMIM/191170
altLabel

BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7

CODON 72 POLYMORPHISM

COLORECTAL CANCER

COLON CANCER

CHOROID PLEXUS CARCINOMA

GLIOMA SUSCEPTIBILITY 1

NASOPHARYNGEAL CARCINOMA, SOMATIC

PANCREATIC CANCER, SOMATIC

BREAST CANCER, SOMATIC

ADRENOCORTICAL CARCINOMA, PEDIATRIC

HEPATOBLASTOMA

LI-FRAUMENI-LIKE SYNDROME

NON-HODGKIN LYMPHOMA

THYROID CARCINOMA, ANAPLASTIC, SOMATIC

TRANSFORMATION-RELATED PROTEIN 53

TP53

CHOROID PLEXUS PAPILLOMA

HEPATOCELLULAR CARCINOMA, SOMATIC

OSTEOSARCOMA

LI-FRAUMENI SYNDROME 1

BONE MARROW FAILURE SYNDROME 5

CERVICAL CANCER, SOMATIC

P53

TRP53
cui

C1859973

C1851161

C4016419

C0029463

C0009402

C3836561

C1969388

C3553606

C4749067

C1835398

C4016282

C2674060

C0431109

C0206624

C4748488

C0079419

C0024305

C0007102

C0205770

C2750850

C2675080
Gene Locus

17p13.1
Gene Symbol

BCC7

BMFS5

P53

TP53

LFS1
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/191170.0028

http://purl.bioontology.org/ontology/OMIM/191170.0020

http://purl.bioontology.org/ontology/OMIM/191170.0024

http://purl.bioontology.org/ontology/OMIM/191170.0021

http://purl.bioontology.org/ontology/OMIM/191170.0025

http://purl.bioontology.org/ontology/OMIM/191170.0029

http://purl.bioontology.org/ontology/OMIM/191170.0027

http://purl.bioontology.org/ontology/OMIM/191170.0026

http://purl.bioontology.org/ontology/OMIM/191170.0036

http://purl.bioontology.org/ontology/OMIM/191170.0031

http://purl.bioontology.org/ontology/OMIM/191170.0030

http://purl.bioontology.org/ontology/OMIM/191170.0037

http://purl.bioontology.org/ontology/OMIM/191170.0034

http://purl.bioontology.org/ontology/OMIM/191170.0039

http://purl.bioontology.org/ontology/OMIM/191170.0033

http://purl.bioontology.org/ontology/OMIM/191170.0035

http://purl.bioontology.org/ontology/OMIM/191170.0032

http://purl.bioontology.org/ontology/OMIM/191170.0038

http://purl.bioontology.org/ontology/OMIM/191170.0044

http://purl.bioontology.org/ontology/OMIM/191170.0041

http://purl.bioontology.org/ontology/OMIM/191170.0042

http://purl.bioontology.org/ontology/OMIM/191170.0043

http://purl.bioontology.org/ontology/OMIM/191170.0040

http://purl.bioontology.org/ontology/OMIM/191170.0010

http://purl.bioontology.org/ontology/OMIM/191170.0014

http://purl.bioontology.org/ontology/OMIM/191170.0011

http://purl.bioontology.org/ontology/OMIM/191170.0012

http://purl.bioontology.org/ontology/OMIM/191170.0013

http://purl.bioontology.org/ontology/OMIM/191170.0015

http://purl.bioontology.org/ontology/OMIM/191170.0016

http://purl.bioontology.org/ontology/OMIM/191170.0017

http://purl.bioontology.org/ontology/OMIM/191170.0019

http://purl.bioontology.org/ontology/OMIM/191170.0018

http://purl.bioontology.org/ontology/OMIM/191170.0007

http://purl.bioontology.org/ontology/OMIM/191170.0008

http://purl.bioontology.org/ontology/OMIM/191170.0002

http://purl.bioontology.org/ontology/OMIM/191170.0005

http://purl.bioontology.org/ontology/OMIM/191170.0001

http://purl.bioontology.org/ontology/OMIM/191170.0003

http://purl.bioontology.org/ontology/OMIM/191170.0009

http://purl.bioontology.org/ontology/OMIM/191170.0004

http://purl.bioontology.org/ontology/OMIM/191170.0006
MIMTYPEMEANING

Gene with known sequence
Moved from

120460
notation

191170
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

TUMOR PROTEIN p53
tui

T047

T033

T191

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C565973 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10039496 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10059140 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/C538639 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10002225 MDRGER CUI
http://purl.bioontology.org/ontology/CSP/4009-0016 CRISP CUI
http://purl.bioontology.org/ontology/MDRGER/10008777 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/C567189 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10031291 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10031295 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10031244 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10031244 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1163405004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10039496 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D012516 MESH CUI
http://purl.bioontology.org/ontology/CSP/2019-1578 CRISP CUI
http://purl.bioontology.org/ontology/MDRFRE/10039496 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10031295 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002678 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10031295 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0029463 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/RCD/Xa9AV RCD CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000041729 PDQ CUI
http://purl.bioontology.org/ontology/MDRFRE/10031291 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/M-91803 SNMI CUI
http://purl.bioontology.org/ontology/MSHFRE/D012516 MSHFRE CUI
http://purl.bioontology.org/ontology/CST/SARCOMA%20BONE COSTART CUI
http://purl.bioontology.org/ontology/MEDDRA/10031291 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/1163405004 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10031244 MEDDRA CUI
http://purl.bioontology.org/ontology/ICPC2P/L71018 ICPC2P CUI
http://purl.bioontology.org/ontology/MDRGER/10010036 MDRGER CUI
http://purl.bioontology.org/ontology/MSTDE-FRE/MT170013 MSTDE-FRE CUI
http://purl.bioontology.org/ontology/MDRGER/10010029 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10061451 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10010029 MDRFRE CUI
http://purl.bioontology.org/ontology/MSTDE/MT170013 MSTDE CUI
http://purl.bioontology.org/ontology/MDRFRE/10061451 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10059140 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10010036 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10059140 MDRFRE CUI
http://purl.bioontology.org/ontology/ICPC2P/D75006 ICPC2P CUI
http://purl.bioontology.org/ontology/CSP/2010-0350 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10061451 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D015179 MESH CUI
http://purl.bioontology.org/ontology/ICPC2P/D75009 ICPC2P CUI
http://purl.bioontology.org/ontology/MDRFRE/10010036 MDRFRE CUI
http://purl.bioontology.org/ontology/LNC/LA15686-1 LOINC CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0009402 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MEDDRA/10010029 MEDDRA CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000039585 PDQ CUI
http://purl.bioontology.org/ontology/MDRGER/10067478 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/88252006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10067478 MEDDRA CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000043274 PDQ CUI
http://purl.bioontology.org/ontology/SCTSPA/1156471001 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10067478 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10002225 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/88252006 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10002225 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/C562943 MESH CUI
http://purl.bioontology.org/ontology/RCD/Xa993 RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1156471001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/M-93903 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10019822 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10019825 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10062001 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/M-89703 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10019825 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10/C22.2 ICD10 CUI
http://purl.bioontology.org/ontology/MEDDRA/10019822 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/45024009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000043722 PDQ CUI
http://purl.bioontology.org/ontology/MDRFRE/10019822 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/109843000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10019825 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/C22.2 ICD10CM CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003671 NDFRT CUI
http://purl.bioontology.org/ontology/MEDDRA/10062001 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10062001 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/45024009 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D018197 MSHFRE CUI
http://purl.bioontology.org/ontology/CSP/4003-0022 CRISP CUI
http://purl.bioontology.org/ontology/RCD/B1501 RCD CUI
http://purl.bioontology.org/ontology/MESH/D018197 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/109843000 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/BBL8. RCD CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0206624 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000042948 PDQ CUI
http://purl.bioontology.org/ontology/MSHFRE/D016158 MSHFRE CUI
http://purl.bioontology.org/ontology/LNC/LP19769-6 LOINC CUI
http://purl.bioontology.org/ontology/MESH/D016158 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10029593 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10029547 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10025311 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1172592001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10025311 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/M-96723 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/1172592001 SCTSPA CUI
http://purl.bioontology.org/ontology/WHO/1544 WHO-ART CUI
http://purl.bioontology.org/ontology/SNOMEDCT/118601006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001910 NDFRT CUI
http://purl.bioontology.org/ontology/ICD10/C85.9 ICD10 CUI
http://purl.bioontology.org/ontology/ICD10CM/C85.9 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD10/C83.1 ICD10 CUI
http://purl.bioontology.org/ontology/ICPC2P/B74002 ICPC2P CUI
http://purl.bioontology.org/ontology/WHOFRE/1544 WHOFRE CUI
http://purl.bioontology.org/ontology/MESH/D008228 MESH CUI
http://purl.bioontology.org/ontology/RCD/B627. RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10029593 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/B6274 RCD CUI
http://purl.bioontology.org/ontology/SNMI/M-95913 SNMI CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000038957 PDQ CUI
http://purl.bioontology.org/ontology/MEDDRA/10025311 MEDDRA CUI
http://purl.bioontology.org/ontology/MSHFRE/D008228 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/118601006 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0024305 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/SNOMEDCT/188675007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/4001-0094 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10029593 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10029547 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10029547 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10025859 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10009990 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10009944 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10009951 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10009989 MDRGER CUI
http://purl.bioontology.org/ontology/MSTDE-FRE/MT220005 MSTDE-FRE CUI
http://purl.bioontology.org/ontology/MDRGER/10025848 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10025859 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0007102 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MESH/D003110 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10025848 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD9CM/153 ICD9CM CUI
http://purl.bioontology.org/ontology/ICD10/C18 ICD10 CUI
http://purl.bioontology.org/ontology/SCTSPA/363406005 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10009951 MEDDRA CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000043419 PDQ CUI
http://purl.bioontology.org/ontology/SNMI/D5-F1313 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10009989 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10025848 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10009951 MDRFRE CUI
http://purl.bioontology.org/ontology/MSTDE/MT220005 MSTDE CUI
http://purl.bioontology.org/ontology/MDRFRE/10009990 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10009990 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10025859 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10009944 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10009989 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10009944 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD9CM/153.9 ICD9CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/363406005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD10/C18.9 ICD10 CUI
http://purl.bioontology.org/ontology/ICD10CM/C18.9 ICD10CM CUI
http://purl.bioontology.org/ontology/CSP/2010-0360 CRISP CUI
http://purl.bioontology.org/ontology/LNC/LA10537-1 LOINC CUI
http://purl.bioontology.org/ontology/ICD10CM/C18 ICD10CM CUI
http://purl.bioontology.org/ontology/MSHFRE/D003110 MSHFRE CUI
http://purl.bioontology.org/ontology/RCD/B13.. RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/1156641000 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/Xa992 RCD CUI
http://purl.bioontology.org/ontology/NDFRT/N0000004097 NDFRT CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000043274 PDQ CUI
http://purl.bioontology.org/ontology/MESH/D020288 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10008777 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1156641000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D020288 MSHFRE CUI
http://purl.bioontology.org/ontology/SNMI/M-93900 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10008777 MEDDRA CUI
http://www.orpha.net/ORDO/Orphanet_120204 ORDO LOOM