Entry Search - 164975 180700 601365 601368 616331 616894

Search: '164975 180700 601365 601368 616331 616894 (Search in: MIM number)'

Results: 6 entries.

* 601365. DISHEVELLED 1; DVL1
Cytogenetic location: 1p36.33, Genomic coordinates (GRCh38): 1:1,335,278-1,349,418
Matching terms: 601365
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1p36.33	Robinow syndrome, autosomal dominant 2	616331	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 MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene WBGene00001101 WBGene00001102 WBGene00003241 ZFin	Cellular Pathways KEGG Reactome

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* 601368. DISHEVELLED 3; DVL3
Cytogenetic location: 3q27.1, Genomic coordinates (GRCh38): 3:184,155,377-184,173,614
Matching terms: 601368
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
3q27.1	Robinow syndrome, autosomal dominant 3	616894	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 MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene WBGene00001102 WBGene00003241 ZFin	Cellular Pathways KEGG Reactome

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* 164975. WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5A; WNT5A
Cytogenetic location: 3p14.3, Genomic coordinates (GRCh38): 3:55,465,715-55,505,263
Matching terms: 164975
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
3p14.3	Robinow syndrome, autosomal dominant 1	180700	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 Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog 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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# 180700. ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1
Cytogenetic location: 3p14.3
Matching terms: 180700
► 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
3p14.3	Robinow syndrome, autosomal dominant 1	180700	AD	3	WNT5A	164975

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Robinow syndrome - PS268310 - 5 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p36.33	Robinow syndrome, autosomal dominant 2	AD	3	616331	DVL1	601365
3p14.3	Robinow syndrome, autosomal dominant 1	AD	3	180700	WNT5A	164975
3q27.1	Robinow syndrome, autosomal dominant 3	AD	3	616894	DVL3	601368
9q22.31	Robinow syndrome, autosomal recessive	AR	3	268310	ROR2	602337
17p13.3	Robinow syndrome, autosomal recessive 2	AR	3	618529	NXN	612895

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Links
Testing GTR EuroGentest Autosomal dominant Robinow… Robinow syndrome	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Autosomal dominant Robinow… Robinow syndrome Gene Reviews Genetic Alliance GTR GARD OrphaNet Autosomal dominant Robinow… Robinow syndrome POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 76520005 ICD10CM: Q87.19 ORPHA: 3107, 97360 DO: 0060766

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# 616331. ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2
Cytogenetic location: 1p36.33
Matching terms: 616331
► 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
1p36.33	Robinow syndrome, autosomal dominant 2	616331	AD	3	DVL1	601365

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Robinow syndrome - PS268310 - 5 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p36.33	Robinow syndrome, autosomal dominant 2	AD	3	616331	DVL1	601365
3p14.3	Robinow syndrome, autosomal dominant 1	AD	3	180700	WNT5A	164975
3q27.1	Robinow syndrome, autosomal dominant 3	AD	3	616894	DVL3	601368
9q22.31	Robinow syndrome, autosomal recessive	AR	3	268310	ROR2	602337
17p13.3	Robinow syndrome, autosomal recessive 2	AR	3	618529	NXN	612895

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Links
Testing GTR EuroGentest Autosomal dominant Robinow… Robinow syndrome	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Autosomal dominant Robinow… Robinow syndrome Gene Reviews GTR GARD OrphaNet Autosomal dominant Robinow… Robinow syndrome	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology

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ICD+
ORPHA: 3107, 97360 DO: 0060765

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# 616894. ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3
Cytogenetic location: 3q27.1
Matching terms: 616894
► 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
3q27.1	Robinow syndrome, autosomal dominant 3	616894	AD	3	DVL3	601368

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Robinow syndrome - PS268310 - 5 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p36.33	Robinow syndrome, autosomal dominant 2	AD	3	616331	DVL1	601365
3p14.3	Robinow syndrome, autosomal dominant 1	AD	3	180700	WNT5A	164975
3q27.1	Robinow syndrome, autosomal dominant 3	AD	3	616894	DVL3	601368
9q22.31	Robinow syndrome, autosomal recessive	AR	3	268310	ROR2	602337
17p13.3	Robinow syndrome, autosomal recessive 2	AR	3	618529	NXN	612895

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Links
Testing GTR EuroGentest Autosomal dominant Robinow… Robinow syndrome	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Autosomal dominant Robinow… Robinow syndrome Gene Reviews MedlinePlus Genetics GTR GARD OrphaNet Autosomal dominant Robinow… Robinow syndrome	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
ORPHA: 3107, 97360 DO: 0060767

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Search: 164975 180700 601365 601368 616331 616894 (Search in: MIM number)

Results: 6 entries.

* 601365. DISHEVELLED 1; DVL1
Cytogenetic location: 1p36.33, Genomic coordinates (GRCh38): 1:1,335,278-1,349,418
Matching terms: 601365

* 601368. DISHEVELLED 3; DVL3
Cytogenetic location: 3q27.1, Genomic coordinates (GRCh38): 3:184,155,377-184,173,614
Matching terms: 601368

* 164975. WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5A; WNT5A
Cytogenetic location: 3p14.3, Genomic coordinates (GRCh38): 3:55,465,715-55,505,263
Matching terms: 164975

# 180700. ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1
Cytogenetic location: 3p14.3
Matching terms: 180700

# 616331. ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2
Cytogenetic location: 1p36.33
Matching terms: 616331

# 616894. ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3
Cytogenetic location: 3q27.1
Matching terms: 616894

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Printed: June 8, 2024