Entry Search - 180849 600140 602700 613684

Search: '180849 600140 602700 613684 (Search in: MIM number)'

Results: 4 entries.

* 602700. E1A-BINDING PROTEIN, 300-KD; EP300
Cytogenetic location: 22q13.2, Genomic coordinates (GRCh38): 22:41,092,592-41,180,077
Matching terms: 602700
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
22q13.2	Colorectal cancer, somatic	114500		3
	Menke-Hennekam syndrome 2	618333	AD	3
	Rubinstein-Taybi syndrome 2	613684	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 NHLBI EVS PharmGKB	Animal Models FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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# 613684. RUBINSTEIN-TAYBI SYNDROME 2; RSTS2
Cytogenetic location: 22q13.2
Matching terms: 613684
► 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
22q13.2	Rubinstein-Taybi syndrome 2	613684	AD	3	EP300	602700

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Rubinstein-Taybi syndrome - PS180849 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
16p13.3	Chromosome 16p13.3 deletion syndrome		4	610543	DEL16p13.3	610543
16p13.3	Rubinstein-Taybi syndrome 1	AD	3	180849	CREBBP	600140
22q13.2	Rubinstein-Taybi syndrome 2	AD	3	613684	EP300	602700

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Links
Testing GTR EuroGentest Rubinstein-Taybi syndrome … Rubinstein-Taybi syndrome	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Rubinstein-Taybi syndrome … Rubinstein-Taybi syndrome Gene Reviews Genetic Alliance MedlinePlus Genetics GTR GARD OrphaNet Rubinstein-Taybi syndrome … Rubinstein-Taybi syndrome	Animal Models MGI Mouse Phenotype NCBI HomoloGene Wormbase Disease Ontology

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ICD+
ORPHA: 353284, 783 DO: 1933

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# 180849. RUBINSTEIN-TAYBI SYNDROME 1; RSTS1
Cytogenetic location: 16p13.3
Matching terms: 180849
► 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
16p13.3	Rubinstein-Taybi syndrome 1	180849	AD	3	CREBBP	600140

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Rubinstein-Taybi syndrome - PS180849 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
16p13.3	Chromosome 16p13.3 deletion syndrome		4	610543	DEL16p13.3	610543
16p13.3	Rubinstein-Taybi syndrome 1	AD	3	180849	CREBBP	600140
22q13.2	Rubinstein-Taybi syndrome 2	AD	3	613684	EP300	602700

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Links
Testing GTR EuroGentest Rubinstein-Taybi syndrome … Rubinstein-Taybi syndrome	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Rubinstein-Taybi syndrome … Rubinstein-Taybi syndrome Gene Reviews Genetic Alliance GTR GARD OrphaNet Rubinstein-Taybi syndrome … Rubinstein-Taybi syndrome POSSUM	Animal Models MGI Mouse Phenotype NCBI HomoloGene Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 45582004 ICD10CM: Q87.2 ORPHA: 353277, 783 DO: 1933

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* 600140. CREB-BINDING PROTEIN; CREBBP
CBP/MOZ FUSION GENE, INCLUDED
Cytogenetic location: 16p13.3, Genomic coordinates (GRCh38): 16:3,725,054-3,880,713
Matching terms: 600140
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
16p13.3	Menke-Hennekam syndrome 1	618332	AD	3
16p13.3	Rubinstein-Taybi syndrome 1	180849	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 FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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Search: 180849 600140 602700 613684 (Search in: MIM number)

Results: 4 entries.

* 602700. E1A-BINDING PROTEIN, 300-KD; EP300
Cytogenetic location: 22q13.2, Genomic coordinates (GRCh38): 22:41,092,592-41,180,077
Matching terms: 602700

# 613684. RUBINSTEIN-TAYBI SYNDROME 2; RSTS2
Cytogenetic location: 22q13.2
Matching terms: 613684

# 180849. RUBINSTEIN-TAYBI SYNDROME 1; RSTS1
Cytogenetic location: 16p13.3
Matching terms: 180849

* 600140. CREB-BINDING PROTEIN; CREBBP
CBP/MOZ FUSION GENE, INCLUDED
Cytogenetic location: 16p13.3, Genomic coordinates (GRCh38): 16:3,725,054-3,880,713
Matching terms: 600140

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Printed: April 30, 2024