Entry Search - 113650 600963 601205 601653 602588 608389 610896

Search: '113650 600963 601205 601653 602588 608389 610896 (Search in: MIM number)'

Results: 7 entries.

# 113650. BRANCHIOOTORENAL SYNDROME 1; BOR1
Cytogenetic location: 8q13.3
Matching terms: 113650
► 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
8q13.3	Branchiootorenal syndrome 1, with or without cataracts	113650	AD	3	EYA1	601653

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Branchiootorenal syndrome - PS113650 - 2 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
8q13.3	Branchiootorenal syndrome 1, with or without cataracts	AD	3	113650	EYA1	601653
19q13.32	Branchiootorenal syndrome 2		3	610896	SIX5	600963

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR GARD OrphaNet POSSUM	Animal Models MGI Mouse Phenotype NCBI HomoloGene Wormbase Disease Ontology

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ICD+
SNOMEDCT: 290006 ORPHA: 107 DO: 0111423

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* 600963. SIX HOMEOBOX 5; SIX5
Cytogenetic location: 19q13.32, Genomic coordinates (GRCh38): 19:45,764,785-45,769,252
Matching terms: 600963
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
19q13.32	Branchiootorenal syndrome 2	610896		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 Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

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* 601205. SIX HOMEOBOX 1; SIX1
Cytogenetic location: 14q23.1, Genomic coordinates (GRCh38): 14:60,643,421-60,649,477
Matching terms: 601205
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
14q23.1	Branchiootic syndrome 3	608389	AD	3
14q23.1	Deafness, autosomal dominant 23	605192	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 NHLBI EVS PharmGKB	Animal Models FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene Wormbase Gene WBGene00000454 WBGene00000455 ZFin	Cellular Pathways KEGG Reactome

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* 601653. EYA TRANSCRIPTIONAL COACTIVATOR AND PHOSPHATASE 1; EYA1
Cytogenetic location: 8q13.3, Genomic coordinates (GRCh38): 8:71,197,433-71,548,094
Matching terms: 601653
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
8q13.3	?Otofaciocervical syndrome	166780	AD	3
	Anterior segment anomalies with or without cataract	602588	AD	3
	Branchiootic syndrome 1	602588	AD	3
	Branchiootorenal syndrome 1, with or without cataracts	113650	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 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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ICD+
SNOMEDCT: 429448005

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# 602588. BRANCHIOOTIC SYNDROME 1; BOS1
ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT, INCLUDED
Cytogenetic locations: 8q13.3,
Matching terms: 602588
► 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
8q13.3	Branchiootic syndrome 1	602588	AD	3	EYA1	601653
8q13.3	Anterior segment anomalies with or without cataract	602588	AD	3	EYA1	601653

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Branchiootic syndrome - PS602588 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q31	Branchiootic syndrome 2	AD	2	120502	BOS2	120502
8q13.3	Anterior segment anomalies with or without cataract	AD	3	602588	EYA1	601653
8q13.3	Branchiootic syndrome 1	AD	3	602588	EYA1	601653
14q23.1	Branchiootic syndrome 3	AD	3	608389	SIX1	601205

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR GARD OrphaNet POSSUM	Animal Models NCBI HomoloGene

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ICD+
SNOMEDCT: 764810000 ORPHA: 52429 DO: 0060232

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# 608389. BRANCHIOOTIC SYNDROME 3; BOS3
Cytogenetic location: 14q23.1
Matching terms: 608389
► 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
14q23.1	Branchiootic syndrome 3	608389	AD	3	SIX1	601205

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Branchiootic syndrome - PS602588 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q31	Branchiootic syndrome 2	AD	2	120502	BOS2	120502
8q13.3	Anterior segment anomalies with or without cataract	AD	3	602588	EYA1	601653
8q13.3	Branchiootic syndrome 1	AD	3	602588	EYA1	601653
14q23.1	Branchiootic syndrome 3	AD	3	608389	SIX1	601205

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR GARD OrphaNet	Animal Models NCBI HomoloGene

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ICD+
ORPHA: 52429 DO: 0060232

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# 610896. BRANCHIOOTORENAL SYNDROME 2; BOR2
Cytogenetic location: 19q13.32
Matching terms: 610896
► 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
19q13.32	Branchiootorenal syndrome 2	610896		3	SIX5	600963

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Branchiootorenal syndrome - PS113650 - 2 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
8q13.3	Branchiootorenal syndrome 1, with or without cataracts	AD	3	113650	EYA1	601653
19q13.32	Branchiootorenal syndrome 2		3	610896	SIX5	600963

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

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ICD+
ORPHA: 107 DO: 0111424

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Search: 113650 600963 601205 601653 602588 608389 610896 (Search in: MIM number)

Results: 7 entries.

# 113650. BRANCHIOOTORENAL SYNDROME 1; BOR1
Cytogenetic location: 8q13.3
Matching terms: 113650

* 600963. SIX HOMEOBOX 5; SIX5
Cytogenetic location: 19q13.32, Genomic coordinates (GRCh38): 19:45,764,785-45,769,252
Matching terms: 600963

* 601205. SIX HOMEOBOX 1; SIX1
Cytogenetic location: 14q23.1, Genomic coordinates (GRCh38): 14:60,643,421-60,649,477
Matching terms: 601205

* 601653. EYA TRANSCRIPTIONAL COACTIVATOR AND PHOSPHATASE 1; EYA1
Cytogenetic location: 8q13.3, Genomic coordinates (GRCh38): 8:71,197,433-71,548,094
Matching terms: 601653

# 602588. BRANCHIOOTIC SYNDROME 1; BOS1
ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT, INCLUDED
Cytogenetic locations: 8q13.3,
Matching terms: 602588

# 608389. BRANCHIOOTIC SYNDROME 3; BOS3
Cytogenetic location: 14q23.1
Matching terms: 608389

# 610896. BRANCHIOOTORENAL SYNDROME 2; BOR2
Cytogenetic location: 19q13.32
Matching terms: 610896

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Printed: April 28, 2024