Entry Search - 103280 130650 147470 600856 604115 607542 616186

Search: '103280 130650 147470 600856 604115 607542 616186 (Search in: MIM number)'

Results: 7 entries.

* 607542. POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1
Cytogenetic location: 11p15.5-p15.4, Genomic coordinates (GRCh38): 11:2,445,008-2,849,105
Matching terms: 607542
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
11p15.5-p15.4	{Long QT syndrome 1, acquired, susceptibility to}	192500	AD	3
	Atrial fibrillation, familial, 3	607554	AD	3
	Jervell and Lange-Nielsen syndrome	220400	AR	3
	Long QT syndrome 1	192500	AD	3
	Short QT syndrome 2	609621	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 Center… Gene Connection for the He… Long QT Syndrome Database CCHMC - Human Genetics Mut… NHLBI EVS PharmGKB	Animal Models Alliance Genome 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: 20852007

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# 130650. BECKWITH-WIEDEMANN SYNDROME; BWS
BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION, INCLUDED; BWCR, INCLUDED
Cytogenetic locations: 11p15.5, 11p15.5, 11p15.4
Matching terms: 130650
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
11p15.5	Beckwith-Wiedemann syndrome	130650	AD	3	ICR1	616186
11p15.5	Beckwith-Wiedemann syndrome	130650	AD	3	KCNQ1OT1	604115
11p15.4	Beckwith-Wiedemann syndrome	130650	AD	3	CDKN1C	600856

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

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ICD+
SNOMEDCT: 81780002 ICD10CM: Q87.3 ORPHA: 116, 231120, 238613 DO: 5572

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* 103280. H19, IMPRINTED MATERNALLY EXPRESSED NONCODING TRANSCRIPT; H19
Cytogenetic location: 11p15.5, Genomic coordinates (GRCh38): 11:1,995,176-2,001,266
Matching terms: 103280
► Links

Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl NCBI RefSeq UCSC Genome Browser	Protein Human Protein Atlas	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central NHLBI EVS PharmGKB	Animal Models Alliance Genome MARRVEL NCBI Orthologs OrthoDB

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* 616186. H19/IGF2-IMPRINTING CONTROL REGION
Cytogenetic location: 11p15.5, Genomic coordinates (GRCh38): 11:1,998,202-2,003,509
Matching terms: 616186
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
11p15.5	Beckwith-Wiedemann syndrome	130650	AD	3
	Silver-Russell syndrome 1	180860	AD	3
	Wilms tumor 2	194071	AD, SMu	3

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Links
Genome NCBI Genome Viewer UCSC Genome Browser	DNA UCSC Genome Browser	Gene Info BioGPS KEGG Monarch NCBI Gene	Clinical Resources MedlinePlus Genetics H19 gene IGF2 gene	Variation ClinVar	Animal Models NCBI Orthologs OrthoDB

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ICD+
SNOMEDCT: 81780002 ICD10CM: Q87.3

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* 147470. INSULIN-LIKE GROWTH FACTOR II; IGF2
Cytogenetic location: 11p15.5, Genomic coordinates (GRCh38): 11:2,129,117-2,149,566
Matching terms: 147470
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
11p15.5	Silver-Russell syndrome 3	616489	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 NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB ZFin	Cellular Pathways KEGG Reactome

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* 600856. CYCLIN-DEPENDENT KINASE INHIBITOR 1C; CDKN1C
Cytogenetic location: 11p15.4, Genomic coordinates (GRCh38): 11:2,883,218-2,885,775
Matching terms: 600856
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
11p15.4	Beckwith-Wiedemann syndrome	130650	AD	3
11p15.4	IMAGE syndrome	614732	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 MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Central HGMD 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: 702384004, 81780002 ICD10CM: Q87.3

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* 604115. KCNQ1-OPPOSITE STRAND/ANTISENSE TRANSCRIPT 1; KCNQ1OT1
Cytogenetic location: 11p15.5, Genomic coordinates (GRCh38): 11:2,608,328-2,699,994
Matching terms: 604115
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
11p15.5	Beckwith-Wiedemann syndrome	130650	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl NCBI RefSeq UCSC Genome Browser	Protein Human Protein Atlas	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene	Clinical Resources ClinGen Dosage MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB

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ICD+
SNOMEDCT: 81780002 ICD10CM: Q87.3

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Search: 103280 130650 147470 600856 604115 607542 616186 (Search in: MIM number)

Results: 7 entries.

* 607542. POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1
Cytogenetic location: 11p15.5-p15.4, Genomic coordinates (GRCh38): 11:2,445,008-2,849,105
Matching terms: 607542

# 130650. BECKWITH-WIEDEMANN SYNDROME; BWS
BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION, INCLUDED; BWCR, INCLUDED
Cytogenetic locations: 11p15.5, 11p15.5, 11p15.4
Matching terms: 130650

* 103280. H19, IMPRINTED MATERNALLY EXPRESSED NONCODING TRANSCRIPT; H19
Cytogenetic location: 11p15.5, Genomic coordinates (GRCh38): 11:1,995,176-2,001,266
Matching terms: 103280

* 616186. H19/IGF2-IMPRINTING CONTROL REGION
Cytogenetic location: 11p15.5, Genomic coordinates (GRCh38): 11:1,998,202-2,003,509
Matching terms: 616186

* 147470. INSULIN-LIKE GROWTH FACTOR II; IGF2
Cytogenetic location: 11p15.5, Genomic coordinates (GRCh38): 11:2,129,117-2,149,566
Matching terms: 147470

* 600856. CYCLIN-DEPENDENT KINASE INHIBITOR 1C; CDKN1C
Cytogenetic location: 11p15.4, Genomic coordinates (GRCh38): 11:2,883,218-2,885,775
Matching terms: 600856

* 604115. KCNQ1-OPPOSITE STRAND/ANTISENSE TRANSCRIPT 1; KCNQ1OT1
Cytogenetic location: 11p15.5, Genomic coordinates (GRCh38): 11:2,608,328-2,699,994
Matching terms: 604115

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