Entry Search - 135290 175100 611731 619182

Search: '135290 175100 611731 619182 (Search in: MIM number)'

Results: 4 entries.

* 611731. APC REGULATOR OF WNT SIGNALING PATHWAY; APC
Cytogenetic location: 5q22.2, Genomic coordinates (GRCh38): 5:112,707,498-112,846,239
Matching terms: 611731
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
5q22.2	Adenoma, periampullary, somatic	175100		3
	Adenomatous polyposis coli	175100	AD	3
	Brain tumor-polyposis syndrome 2	175100	AD	3
	Colorectal cancer, somatic	114500		3
	Desmoid disease, hereditary	135290	AD	3
	Gardner syndrome	175100	AD	3
	Gastric adenocarcinoma and proximal polyposis of the stomach	619182	AD	3
	Gastric cancer, somatic	613659		3
	Hepatoblastoma, somatic	114550		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… The APC Mutation Database Colon cancer gene variant … The UMD APC mutations data… 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: 423471004, 60876000, 70921007, 72900001 ICD10CM: D13.91

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# 175100. FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1
GARDNER SYNDROME, INCLUDED; GS, INCLUDED
Cytogenetic locations: 5q22.2,
Matching terms: 175100
► 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
5q22.2	Adenoma, periampullary, somatic	175100		3	APC	611731
5q22.2	Brain tumor-polyposis syndrome 2	175100	AD	3	APC	611731
5q22.2	Adenomatous polyposis coli	175100	AD	3	APC	611731
5q22.2	Gardner syndrome	175100	AD	3	APC	611731

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Familial adenomatous polyposis - PS175100 - 7 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p34.1	Adenomas, multiple colorectal	AR	3	608456	MUTYH	604933
5q14.1	Familial adenomatous polyposis 4	AR	3	617100	MSH3	600887
5q22.2	Gardner syndrome	AD	3	175100	APC	611731
5q22.2	Adenoma, periampullary, somatic		3	175100	APC	611731
5q22.2	Brain tumor-polyposis syndrome 2	AD	3	175100	APC	611731
5q22.2	Adenomatous polyposis coli	AD	3	175100	APC	611731
16p13.3	Familial adenomatous polyposis 3	AR	3	616415	NTHL1	602656

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Links
Testing GTR EuroGentest Attenuated familial adenom… APC-related attenuated fam… Familial adenomatous polyp… Gardner syndrome Turcot syndrome with polyp…	Clinical Resources Clinical Trials DECIPHER EuroGentest Attenuated familial adenom… APC-related attenuated fam… Familial adenomatous polyp… Gardner syndrome Turcot syndrome with polyp… Gene Reviews Genetic Alliance GTR OrphaNet Attenuated familial adenom… APC-related attenuated fam… Familial adenomatous polyp… Gardner syndrome Turcot syndrome with polyp… POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 423471004, 60876000, 70921007, 715866009, 72900001 ICD10CM: D13.91 ORPHA: 220460, 247806, 733, 79665, 99818 DO: 0080409

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# 135290. DESMOID DISEASE, HEREDITARY; DESMD
DESMOID TUMOR CAUSED BY SOMATIC MUTATION, INCLUDED
Cytogenetic location: 5q22.2
Matching terms: 135290
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
5q22.2	Desmoid disease, hereditary	135290	AD	3	APC	611731

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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+
ORPHA: 873 DO: 0111349

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# 619182. GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS
Cytogenetic location: 5q22.2
Matching terms: 619182
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
5q22.2	Gastric adenocarcinoma and proximal polyposis of the stomach	619182	AD	3	APC	611731

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet

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ICD+
ORPHA: 314022

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Search: 135290 175100 611731 619182 (Search in: MIM number)

Results: 4 entries.

* 611731. APC REGULATOR OF WNT SIGNALING PATHWAY; APC
Cytogenetic location: 5q22.2, Genomic coordinates (GRCh38): 5:112,707,498-112,846,239
Matching terms: 611731

# 175100. FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1
GARDNER SYNDROME, INCLUDED; GS, INCLUDED
Cytogenetic locations: 5q22.2,
Matching terms: 175100

# 135290. DESMOID DISEASE, HEREDITARY; DESMD
DESMOID TUMOR CAUSED BY SOMATIC MUTATION, INCLUDED
Cytogenetic location: 5q22.2
Matching terms: 135290

# 619182. GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS
Cytogenetic location: 5q22.2
Matching terms: 619182

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