Entry Search - 130160 194050 601329 601679 604318 608512

Search: '130160 194050 601329 601679 604318 608512 (Search in: MIM number)'

Results: 6 entries.

# 194050. WILLIAMS-BEUREN SYNDROME; WBS
Cytogenetic location: 7q11.23, Genomic coordinates (GRCh38): 7:72,700,001-77,900,000
Matching terms: 194050
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
7q11.23	Williams-Beuren syndrome	194050	AD	4

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials DECIPHER EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 63247009 ICD10CM: Q93.82 ORPHA: 904 DO: 1928

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* 608512. NEUTROPHIL CYTOSOLIC FACTOR 1; NCF1
Cytogenetic location: 7q11.23, Genomic coordinates (GRCh38): 7:74,774,011-74,789,315
Matching terms: 608512
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
7q11.23	Chronic granulomatous disease 1, autosomal recessive	233700	AR	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 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 gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways KEGG Reactome

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* 130160. ELASTIN; ELN
Cytogenetic location: 7q11.23, Genomic coordinates (GRCh38): 7:74,028,173-74,069,907
Matching terms: 130160
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
7q11.23	Cutis laxa, autosomal dominant	123700	AD	3
7q11.23	Supravalvar aortic stenosis	185500	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 Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 268185002 ICD10CM: Q25.3

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* 601329. LIM DOMAIN KINASE 1; LIMK1
Cytogenetic location: 7q11.23, Genomic coordinates (GRCh38): 7:74,083,804-74,122,525
Matching terms: 601329
► Links

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 gnomAD GWAS Catalog GWAS Central NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways KEGG Reactome

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* 601679. GENERAL TRANSCRIPTION FACTOR II-I; GTF2I
Cytogenetic location: 7q11.23, Genomic coordinates (GRCh38): 7:74,657,718-74,760,692
Matching terms: 601679
► Links

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 gnomAD GWAS Catalog GWAS Central NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB	Cellular Pathways KEGG Reactome

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* 604318. GTF2I REPEAT DOMAIN-CONTAINING PROTEIN 1; GTF2IRD1
Cytogenetic location: 7q11.23, Genomic coordinates (GRCh38): 7:74,453,906-74,602,605
Matching terms: 604318
► Links

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 Catalog GWAS Central NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways Reactome

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Search: 130160 194050 601329 601679 604318 608512 (Search in: MIM number)

Results: 6 entries.

# 194050. WILLIAMS-BEUREN SYNDROME; WBS
Cytogenetic location: 7q11.23, Genomic coordinates (GRCh38): 7:72,700,001-77,900,000
Matching terms: 194050

* 608512. NEUTROPHIL CYTOSOLIC FACTOR 1; NCF1
Cytogenetic location: 7q11.23, Genomic coordinates (GRCh38): 7:74,774,011-74,789,315
Matching terms: 608512

* 130160. ELASTIN; ELN
Cytogenetic location: 7q11.23, Genomic coordinates (GRCh38): 7:74,028,173-74,069,907
Matching terms: 130160

* 601329. LIM DOMAIN KINASE 1; LIMK1
Cytogenetic location: 7q11.23, Genomic coordinates (GRCh38): 7:74,083,804-74,122,525
Matching terms: 601329

* 601679. GENERAL TRANSCRIPTION FACTOR II-I; GTF2I
Cytogenetic location: 7q11.23, Genomic coordinates (GRCh38): 7:74,657,718-74,760,692
Matching terms: 601679

* 604318. GTF2I REPEAT DOMAIN-CONTAINING PROTEIN 1; GTF2IRD1
Cytogenetic location: 7q11.23, Genomic coordinates (GRCh38): 7:74,453,906-74,602,605
Matching terms: 604318

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