Entry Search - 114500 120435 120436 158320 185535 276300 600259 600678 609309 609310 613244

Search: '114500 120435 120436 158320 185535 276300 600259 600678 609309 609310 613244 (Search in: MIM number)'

Results: 11 entries.

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# 120435. LYNCH SYNDROME 1; LYNCH1
Cytogenetic location: 2p21-p16.3
Matching terms: 120435
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
2p21-p16.3	Lynch syndrome 1	120435	AD	3	MSH2	609309

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Colorectal cancer, hereditary nonpolyposis - PS120435 - 7 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2p21	Lynch syndrome 8	AD	3	613244	EPCAM	185535
2p21-p16.3	Lynch syndrome 1	AD	3	120435	MSH2	609309
2p16.3	Lynch syndrome 5	AD	3	614350	MSH6	600678
3p24.1	Colorectal cancer, hereditary nonpolyposis, type 6		3	614331	TGFBR2	190182
3p22.2	Lynch syndrome 2		3	609310	MLH1	120436
7p22.1	Lynch syndrome 4		3	614337	PMS2	600259
14q24.3	Colorectal cancer, hereditary nonpolyposis, type 7		3	614385	MLH3	604395

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
ORPHA: 144 DO: 0070271

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# 114500. COLORECTAL CANCER; CRC
Cytogenetic locations: 1p36.13, 1p13.2, 2q13, 3p22.1, 3q26.32, 4p16.3, 4q31.3, 5q22.2, 5q22.2, 7q11.23, 7q34, 8p22, 8p22, 8q22.1, 11p11.2, 11q13.3, 14q24.3, 14q32.33, 15q15.1, 17p13.1, 17p11.2, 17q24.1, 18q21.2, 19q13.33, 20q11.23, 20q13.2, 22q13.2
Matching terms: 114500
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
1p36.13	{?Colorectal cancer, susceptibility to}	114500	AD, SMu	3	PLA2G2A	172411
1p13.2	Colorectal cancer, somatic	114500		3	NRAS	164790
2q13	Colorectal cancer with chromosomal instability, somatic	114500		3	BUB1	602452
3p22.1	Colorectal cancer, somatic	114500		3	CTNNB1	116806
3q26.32	Colorectal cancer, somatic	114500		3	PIK3CA	171834
4p16.3	Colorectal cancer, somatic	114500		3	FGFR3	134934
4q31.3	{Colorectal cancer, susceptibility to}	114500	AD, SMu	3	TLR2	603028
5q22.2	Colorectal cancer, somatic	114500		3	APC	611731
5q22.2	Colorectal cancer, somatic	114500		3	MCC	159350
7q11.23	Colon cancer, somatic	114500		3	PTPN12	600079
7q34	Colorectal cancer, somatic	114500		3	BRAF	164757
8p22	Colorectal cancer, somatic	114500		3	DLC1	604258
8p22	Colorectal cancer, somatic	114500		3	PDGFRL	604584
8q22.1	Colon cancer, somatic	114500		3	RAD54B	604289
11p11.2	Colon cancer, somatic	114500		3	PTPRJ	600925
11q13.3	{Colorectal cancer, susceptibility to}	114500	AD, SMu	3	CCND1	168461
14q24.3	Colorectal cancer, somatic	114500		3	MLH3	604395
14q32.33	Colorectal cancer, somatic	114500		3	AKT1	164730
15q15.1	Colorectal cancer, somatic	114500		3	BUB1B	602860
17p13.1	{Colorectal cancer}	114500	AD, SMu	3	TP53	191170
17p11.2	Colorectal cancer, somatic	114500		3	FLCN	607273
17q24.1	Colorectal cancer, somatic	114500		3	AXIN2	604025
18q21.2	Colorectal cancer, somatic	114500		3	DCC	120470
19q13.33	Colorectal cancer, somatic	114500		3	BAX	600040
20q11.23	Colon cancer, advanced, somatic	114500		3	SRC	190090
20q13.2	{Colon cancer, susceptibility to}	114500	AD, SMu	3	AURKA	603072
22q13.2	Colorectal cancer, somatic	114500		3	EP300	602700

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Links
Testing GTR	Clinical Resources Clinical Trials Gene Reviews Genetic Alliance GTR	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 363406005 ICD10CM: C18, C18.9 ICD9CM: 153, 153.9 DO: 9256

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* 120436. DNA MISMATCH REPAIR PROTEIN MLH1; MLH1
Cytogenetic location: 3p22.2, Genomic coordinates (GRCh38): 3:36,993,466-37,050,846
Matching terms: 120436
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
3p22.2	Lynch syndrome 2	609310		3
	Mismatch repair cancer syndrome 1	276300	AR	3
	Muir-Torre syndrome	158320	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs Zhejiang University-Adinov… Hereditary Non-Polyposis C… Mismatch Repair Genes Vari… NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 403824007

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* 600678. MutS HOMOLOG 6; MSH6
Cytogenetic location: 2p16.3, Genomic coordinates (GRCh38): 2:47,783,145-47,810,101
Matching terms: 600678
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2p16.3	{Endometrial cancer, familial}	608089	AD, SMu	3
	Lynch syndrome 5	614350	AD	3
	Mismatch repair cancer syndrome 3	619097	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs Zhejiang University-Adinov… MSH6 database at LOVD Hereditary Non-Polyposis C… Mismatch Repair Genes Vari… NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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# 276300. MISMATCH REPAIR CANCER SYNDROME 1; MMRCS1
Cytogenetic location: 3p22.2
Matching terms: 276300
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
3p22.2	Mismatch repair cancer syndrome 1	276300	AR	3	MLH1	120436

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Mismatch repair cancer syndrome - PS276300 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2p21-p16.3	Mismatch repair cancer syndrome 2	AR	3	619096	MSH2	609309
2p16.3	Mismatch repair cancer syndrome 3	AR	3	619097	MSH6	600678
3p22.2	Mismatch repair cancer syndrome 1	AR	3	276300	MLH1	120436
7p22.1	Mismatch repair cancer syndrome 4	AR	3	619101	PMS2	600259

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 61665008 ORPHA: 252202 DO: 0112182

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# 613244. LYNCH SYNDROME 8; LYNCH8
Cytogenetic location: 2p21
Matching terms: 613244
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
2p21	Lynch syndrome 8	613244	AD	3	EPCAM	185535

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Colorectal cancer, hereditary nonpolyposis - PS120435 - 7 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2p21	Lynch syndrome 8	AD	3	613244	EPCAM	185535
2p21-p16.3	Lynch syndrome 1	AD	3	120435	MSH2	609309
2p16.3	Lynch syndrome 5	AD	3	614350	MSH6	600678
3p24.1	Colorectal cancer, hereditary nonpolyposis, type 6		3	614331	TGFBR2	190182
3p22.2	Lynch syndrome 2		3	609310	MLH1	120436
7p22.1	Lynch syndrome 4		3	614337	PMS2	600259
14q24.3	Colorectal cancer, hereditary nonpolyposis, type 7		3	614385	MLH3	604395

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype

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ICD+
ORPHA: 144 DO: 0070270

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# 158320. MUIR-TORRE SYNDROME; MRTES
Cytogenetic locations: 2p21-p16.3, 3p22.2
Matching terms: 158320
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
2p21-p16.3	Muir-Torre syndrome	158320	AD	3	MSH2	609309
3p22.2	Muir-Torre syndrome	158320	AD	3	MLH1	120436

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
SNOMEDCT: 403824007 ORPHA: 587 DO: 0050465

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* 600259. PMS1 HOMOLOG 2, MISMATCH REPAIR SYSTEM COMPONENT; PMS2
Cytogenetic location: 7p22.1, Genomic coordinates (GRCh38): 7:5,970,925-6,009,106
Matching terms: 600259
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
7p22.1	Lynch syndrome 4	614337		3
7p22.1	Mismatch repair cancer syndrome 4	619101	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs Zhejiang University-Adinov… Hereditary Non-Polyposis C… NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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* 185535. EPITHELIAL CELLULAR ADHESION MOLECULE; EPCAM
Cytogenetic location: 2p21, Genomic coordinates (GRCh38): 2:47,369,311-47,387,020
Matching terms: 185535
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2p21	Diarrhea 5, with tufting enteropathy, congenital	613217	AR	3
2p21	Lynch syndrome 8	613244	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways KEGG Reactome

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10:

* 609309. MutS HOMOLOG 2; MSH2
Cytogenetic location: 2p21-p16.3, Genomic coordinates (GRCh38): 2:47,403,067-47,709,830
Matching terms: 609309
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2p21-p16.3	Lynch syndrome 1	120435	AD	3
	Mismatch repair cancer syndrome 2	619096	AR	3
	Muir-Torre syndrome	158320	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs Zhejiang University-Adinov… Hereditary Non-Polyposis C… Mismatch Repair Genes Vari… NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 403824007

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Search: 114500 120435 120436 158320 185535 276300 600259 600678 609309 609310 613244 (Search in: MIM number)

Results: 11 entries.

# 120435. LYNCH SYNDROME 1; LYNCH1
Cytogenetic location: 2p21-p16.3
Matching terms: 120435

* 120436. DNA MISMATCH REPAIR PROTEIN MLH1; MLH1
Cytogenetic location: 3p22.2, Genomic coordinates (GRCh38): 3:36,993,466-37,050,846
Matching terms: 120436

* 600678. MutS HOMOLOG 6; MSH6
Cytogenetic location: 2p16.3, Genomic coordinates (GRCh38): 2:47,783,145-47,810,101
Matching terms: 600678

# 276300. MISMATCH REPAIR CANCER SYNDROME 1; MMRCS1
Cytogenetic location: 3p22.2
Matching terms: 276300

# 613244. LYNCH SYNDROME 8; LYNCH8
Cytogenetic location: 2p21
Matching terms: 613244

# 158320. MUIR-TORRE SYNDROME; MRTES
Cytogenetic locations: 2p21-p16.3, 3p22.2
Matching terms: 158320

* 600259. PMS1 HOMOLOG 2, MISMATCH REPAIR SYSTEM COMPONENT; PMS2
Cytogenetic location: 7p22.1, Genomic coordinates (GRCh38): 7:5,970,925-6,009,106
Matching terms: 600259

* 185535. EPITHELIAL CELLULAR ADHESION MOLECULE; EPCAM
Cytogenetic location: 2p21, Genomic coordinates (GRCh38): 2:47,369,311-47,387,020
Matching terms: 185535

10:

* 609309. MutS HOMOLOG 2; MSH2
Cytogenetic location: 2p21-p16.3, Genomic coordinates (GRCh38): 2:47,403,067-47,709,830
Matching terms: 609309

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