Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	DNA MISMATCH REPAIR PROTEIN MLH1
Synonyms	LYNCH SYNDROME 2
ID	http://purl.bioontology.org/ontology/OMIM/120436
altLabel	LYNCH SYNDROME 2 COLORECTAL CANCER, SPORADIC, SUSCEPTIBILITY TO MutL, E. COLI, HOMOLOG OF, 1 MLH1 MUIR-TORRE SYNDROME MISMATCH REPAIR CANCER SYNDROME 1 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
cui	C5399763 C1321489 C0879389 C4015969 C1333991
Gene Locus	3p21.3
Gene Symbol	MMRCS1 MLH1 COCA2 LYNCH2
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/120436.0022 http://purl.bioontology.org/ontology/OMIM/120436.0029 http://purl.bioontology.org/ontology/OMIM/120436.0027 http://purl.bioontology.org/ontology/OMIM/120436.0028 http://purl.bioontology.org/ontology/OMIM/120436.0026 http://purl.bioontology.org/ontology/OMIM/120436.0024 http://purl.bioontology.org/ontology/OMIM/120436.0020 http://purl.bioontology.org/ontology/OMIM/120436.0023 http://purl.bioontology.org/ontology/OMIM/120436.0021 http://purl.bioontology.org/ontology/OMIM/120436.0025 http://purl.bioontology.org/ontology/OMIM/120436.0005 http://purl.bioontology.org/ontology/OMIM/120436.0009 http://purl.bioontology.org/ontology/OMIM/120436.0004 http://purl.bioontology.org/ontology/OMIM/120436.0002 http://purl.bioontology.org/ontology/OMIM/120436.0007 http://purl.bioontology.org/ontology/OMIM/120436.0008 http://purl.bioontology.org/ontology/OMIM/120436.0003 http://purl.bioontology.org/ontology/OMIM/120436.0006 http://purl.bioontology.org/ontology/OMIM/120436.0001 http://purl.bioontology.org/ontology/OMIM/120436.0030 http://purl.bioontology.org/ontology/OMIM/120436.0034 http://purl.bioontology.org/ontology/OMIM/120436.0032 http://purl.bioontology.org/ontology/OMIM/120436.0031 http://purl.bioontology.org/ontology/OMIM/120436.0033 http://purl.bioontology.org/ontology/OMIM/120436.0016 http://purl.bioontology.org/ontology/OMIM/120436.0010 http://purl.bioontology.org/ontology/OMIM/120436.0011 http://purl.bioontology.org/ontology/OMIM/120436.0018 http://purl.bioontology.org/ontology/OMIM/120436.0014 http://purl.bioontology.org/ontology/OMIM/120436.0019 http://purl.bioontology.org/ontology/OMIM/120436.0012 http://purl.bioontology.org/ontology/OMIM/120436.0013 http://purl.bioontology.org/ontology/OMIM/120436.0015 http://purl.bioontology.org/ontology/OMIM/120436.0017
MIMTYPEMEANING	Gene with known sequence
notation	120436
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	DNA MISMATCH REPAIR PROTEIN MLH1
tui	T047 T033 T191 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C536928	MESH	CUI
http://purl.bioontology.org/ontology/MESH/D055653	MESH	CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000037802	PDQ	CUI
http://purl.bioontology.org/ontology/MSHFRE/D055847	MSHFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10063042	MEDDRA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D055653	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/403824007	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRGER/10063042	MDRGER	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181215	NDFRT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10063042	MDRFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/403824007	SCTSPA	CUI
http://purl.bioontology.org/ontology/LNC/LP34683-0	LOINC	CUI
http://purl.bioontology.org/ontology/MESH/D055847	MESH	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181217	NDFRT	CUI
http://purl.obolibrary.org/obo/PR_000010442	PR	LOOM
http://purl.obolibrary.org/obo/PR_000010442	NIFSTD	LOOM
http://purl.bioontology.org/ontology/LNC/LP212189-7	LOINC	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C21464	NCIT	LOOM
http://purl.bioontology.org/ontology/LNC/MTHU053317	LOINC	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/1222735002	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/NCIT_C21464	BERO	LOOM