Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	PHOSPHATASE AND TENSIN HOMOLOG
Synonyms	SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC
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/MSHFRE/D016889	MSHFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10027191	MEDDRA	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/MDRFRE/10051906	MDRFRE	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/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/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/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