Entry Search - 145410 188400 192430 600594 601279 601755 602054 609030

Search: '145410 188400 192430 600594 601279 601755 602054 609030 (Search in: MIM number)'

Results: 8 entries.

# 188400. DIGEORGE SYNDROME; DGS
DIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED
Cytogenetic location: 22q11.21
Matching terms: 188400
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
22q11.21	DiGeorge syndrome	188400	AD	3	TBX1	602054

▲ Close

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

▲ Close

ICD+
SNOMEDCT: 767263007 ICD10CM: D82.1 ICD9CM: 279.11 ORPHA: 567 DO: 11198

▲ Close

* 600594. DIGEORGE SYNDROME CRITICAL REGION GENE 2; DGCR2
Cytogenetic location: 22q11.21, Genomic coordinates (GRCh38): 22:19,036,286-19,122,412
Matching terms: 600594
► 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 GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central NHLBI EVS PharmGKB	Animal Models FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene ZFin	Cellular Pathways Reactome

▲ Close

^ 145410. MOVED TO 145420
Matching terms: 145410

* 602054. T-BOX TRANSCRIPTION FACTOR 1; TBX1
Cytogenetic location: 22q11.21, Genomic coordinates (GRCh38): 22:19,756,703-19,783,593
Matching terms: 602054
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
22q11.21	Conotruncal anomaly face syndrome	217095		3
	DiGeorge syndrome	188400	AD	3
	Tetralogy of Fallot	187500	AD	3
	Velocardiofacial syndrome	192430	AD	3

▲ Close

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 HGMD NHLBI EVS PharmGKB	Animal Models FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

▲ Close

ICD+
SNOMEDCT: 767263007, 86299006 ICD10CM: D82.1, Q21.3, Q93.81 ICD9CM: 279.11, 745.2, 758.32

▲ Close

# 192430. VELOCARDIOFACIAL SYNDROME; VCFS
Cytogenetic location: 22q11.21
Matching terms: 192430
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
22q11.21	Velocardiofacial syndrome	192430	AD	3	TBX1	602054

▲ Close

Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials DECIPHER EuroGentest Gene Reviews MedlinePlus Genetics GTR GARD OrphaNet POSSUM	Animal Models MGI Mouse Phenotype NCBI HomoloGene Wormbase Disease Ontology	Cell Lines Coriell

▲ Close

ICD+
ICD10CM: Q93.81 ICD9CM: 758.32 ORPHA: 567 DO: 12583

▲ Close

* 601279. DIGEORGE SYNDROME CRITICAL REGION GENE 6; DGCR6
Cytogenetic location: 22q11.21, Genomic coordinates (GRCh38): 22:18,906,223-18,912,088
Matching terms: 601279
► 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 GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central NHLBI EVS PharmGKB	Animal Models FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene ZFin	Cellular Pathways Reactome

▲ Close

* 601755. ESS2 SPLICING FACTOR, XENOPUS, HOMOLOG OF; ESS2
Cytogenetic location: 22q11.21, Genomic coordinates (GRCh38): 22:19,130,279-19,144,651
Matching terms: 601755
► 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 NCBI Gene UCSC	Clinical Resources GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central NHLBI EVS PharmGKB	Animal Models FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

▲ Close

* 609030. DGCR8 MICROPROCESSOR COMPLEX SUBUNIT; DGCR8
Cytogenetic location: 22q11.21, Genomic coordinates (GRCh38): 22:20,080,241-20,111,872
Matching terms: 609030
► 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 GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central NHLBI EVS PharmGKB	Animal Models FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

▲ Close

Search: 145410 188400 192430 600594 601279 601755 602054 609030 (Search in: MIM number)

Results: 8 entries.

# 188400. DIGEORGE SYNDROME; DGS
DIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED
Cytogenetic location: 22q11.21
Matching terms: 188400

* 600594. DIGEORGE SYNDROME CRITICAL REGION GENE 2; DGCR2
Cytogenetic location: 22q11.21, Genomic coordinates (GRCh38): 22:19,036,286-19,122,412
Matching terms: 600594

^ 145410. MOVED TO 145420
Matching terms: 145410

* 602054. T-BOX TRANSCRIPTION FACTOR 1; TBX1
Cytogenetic location: 22q11.21, Genomic coordinates (GRCh38): 22:19,756,703-19,783,593
Matching terms: 602054

# 192430. VELOCARDIOFACIAL SYNDROME; VCFS
Cytogenetic location: 22q11.21
Matching terms: 192430

* 601279. DIGEORGE SYNDROME CRITICAL REGION GENE 6; DGCR6
Cytogenetic location: 22q11.21, Genomic coordinates (GRCh38): 22:18,906,223-18,912,088
Matching terms: 601279

* 601755. ESS2 SPLICING FACTOR, XENOPUS, HOMOLOG OF; ESS2
Cytogenetic location: 22q11.21, Genomic coordinates (GRCh38): 22:19,130,279-19,144,651
Matching terms: 601755

* 609030. DGCR8 MICROPROCESSOR COMPLEX SUBUNIT; DGCR8
Cytogenetic location: 22q11.21, Genomic coordinates (GRCh38): 22:20,080,241-20,111,872
Matching terms: 609030

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM^® and Online Mendelian Inheritance in Man^® are registered trademarks of the Johns Hopkins University.
Copyright^® 1966-2024 Johns Hopkins University.
Printed: May 7, 2024