OMIM Entry Search

Search: 'ID2-AS1'

Results: 62 entries.

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* 600386. INHIBITOR OF DNA BINDING 2; ID2
Cytogenetic location: 2p25.1, Genomic coordinates (GRCh38): 2:8,681,982-8,684,452
Matching terms: id2
► Links

Links
Testing GTR	Genome Ensembl NCBI Map Viewer UCSC Genome Browser	DNA Ensembl NCBI RefSeq UCSC Genome Browser	Protein HPRD Human Protein Atlas UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG NCBI Gene UCSC	Clinical Resources GTR	Variation 1000 Genome ClinVar ExAC GWAS Central HGVS NHLBI EVS PharmGKB	Animal Models IMPC KOMP MGI Mouse Gene NCBI HomoloGene ZFin	Cellular Pathways KEGG Reactome

# 607277. ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1
Cytogenetic location: 14q22.1
Matching terms: as1
► Phenotype-Gene Relationships ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
14q22.1	{Asthma, susceptibility to, 1}	607277		3	PTGDR	604687

Links
Testing GTR	Protein UniProt	Clinical Resources Clinical Trials Genetic Alliance GTR	Animal Models MGI Mouse Phenotype NCBI HomoloGene

* 600349. INHIBITOR OF DNA BINDING 1; ID1
Cytogenetic location: 20q11.21, Genomic coordinates (GRCh38): 20:31,605,282-31,606,514
Matching terms: id2
► Links

Links
Testing GTR	Genome Ensembl NCBI Map Viewer UCSC Genome Browser	DNA Ensembl NCBI RefSeq UCSC Genome Browser	Protein HPRD Human Protein Atlas UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG NCBI Gene UCSC	Clinical Resources GTR	Variation 1000 Genome ClinVar ExAC GWAS Central HGVS NHLBI EVS PharmGKB	Animal Models IMPC KOMP MGI Mouse Gene NCBI HomoloGene ZFin	Cellular Pathways KEGG Reactome

* 600855. DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1A; DYRK1A
Cytogenetic location: 21q22.13, Genomic coordinates (GRCh38): 21:37,365,789-37,515,375
Matching terms: id2
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
21q22.13	Mental retardation, autosomal dominant 7	614104	AD	3

Links
Testing Gene Tests GTR	Genome Ensembl NCBI Map Viewer UCSC Genome Browser	DNA Ensembl NCBI RefSeq UCSC Genome Browser	Protein HPRD Human Protein Atlas UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG NCBI Gene UCSC	Clinical Resources ClinGen Dosage Gene Tests Genetics Home Reference GTR	Variation 1000 Genome ClinVar ExAC GWAS Catalog GWAS Central HGMD HGVS NHLBI EVS PharmGKB	Animal Models IMPC KOMP MGI Mouse Gene NCBI HomoloGene ZFin	Cellular Pathways Reactome

* 603349. ENDOTHELIAL PAS DOMAIN PROTEIN 1; EPAS1
Cytogenetic location: 2p21, Genomic coordinates (GRCh38): 2:46,297,401-46,386,702
Matching terms: id2
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2p21	Erythrocytosis, familial, 4	611783		3

Links
Testing Gene Tests GTR	Genome Ensembl NCBI Map Viewer UCSC Genome Browser	DNA Ensembl NCBI RefSeq UCSC Genome Browser	Protein HPRD Human Protein Atlas UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG NCBI Gene UCSC	Clinical Resources Gene Tests Genetics Home Reference GTR	Variation 1000 Genome ClinVar ExAC GWAS Catalog GWAS Central HGMD HGVS NHLBI EVS PharmGKB	Animal Models IMPC KOMP MGI Mouse Gene NCBI HomoloGene ZFin	Cellular Pathways KEGG Reactome

* 604556. DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1B; DYRK1B
Cytogenetic location: 19q13.2, Genomic coordinates (GRCh38): 19:39,825,346-39,834,232
Matching terms: id2
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
19q13.2	Abdominal obesity-metabolic syndrome 3	615812	AD	3

Links
Testing Gene Tests GTR	Genome Ensembl NCBI Map Viewer UCSC Genome Browser	DNA Ensembl NCBI RefSeq UCSC Genome Browser	Protein HPRD Human Protein Atlas UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG NCBI Gene UCSC	Clinical Resources Gene Tests GTR	Variation 1000 Genome ClinVar ExAC GWAS Central HGMD HGVS NHLBI EVS PharmGKB	Animal Models IMPC KOMP MGI Mouse Gene NCBI HomoloGene ZFin	Cellular Pathways Reactome

* 173910. POLYCYSTIN 2; PKD2
Cytogenetic location: 4q22.1, Genomic coordinates (GRCh38): 4:88,007,646-88,077,778
Matching terms: id2
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
4q22.1	Polycystic kidney disease 2	613095	AD	3

Links
Testing Gene Tests GTR	Genome Ensembl NCBI Map Viewer UCSC Genome Browser	DNA Ensembl NCBI RefSeq UCSC Genome Browser	Protein HPRD Human Protein Atlas UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG NCBI Gene UCSC	Clinical Resources ClinGen Dosage Gene Tests Genetics Home Reference GTR	Variation 1000 Genome ClinVar ExAC GWAS Catalog GWAS Central HGMD HGVS Locus Specific DBs Autosomal Dominant Polycystic Kidney Disease: Mutation Database Autosomal Dominant Polycystic Kidney Disease (ADPKD) NHLBI EVS PharmGKB	Animal Models IMPC KOMP MGI Mouse Gene NCBI HomoloGene ZFin	Cellular Pathways Reactome

* 601313. POLYCYSTIN 1; PKD1
Cytogenetic location: 16p13.3, Genomic coordinates (GRCh38): 16:2,088,707-2,135,897
Matching terms: id2
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
16p13.3	Polycystic kidney disease, adult type I	173900	AD	3

Links
Testing Gene Tests GTR	Genome Ensembl NCBI Map Viewer UCSC Genome Browser	DNA Ensembl NCBI RefSeq UCSC Genome Browser	Protein HPRD Human Protein Atlas UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG NCBI Gene UCSC	Clinical Resources ClinGen Dosage Gene Tests Genetics Home Reference GTR	Variation 1000 Genome ClinVar ExAC GWAS Central HGMD HGVS Locus Specific DBs Autosomal Dominant Polycystic Kidney Disease (ADPKD) Autosomal Dominant Polycystic Kidney Disease: Mutation Database NHLBI EVS PharmGKB	Animal Models IMPC KOMP MGI Mouse Gene MGI Mouse Phenotype NCBI HomoloGene ZFin	Cellular Pathways Reactome

* 600584. NK2 HOMEOBOX 5; NKX2-5
Cytogenetic location: 5q35.1, Genomic coordinates (GRCh38): 5:173,232,103-173,235,311
Matching terms: id2
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
5q35.1	Atrial septal defect 7, with or without AV conduction defects	108900	AD	3
	Conotruncal heart malformations, variable	217095		3
	Hypoplastic left heart syndrome 2	614435	AD	3
	Hypothyroidism, congenital nongoitrous, 5	225250	AD	3
	Tetralogy of Fallot	187500	AD	3
	Ventricular septal defect 3	614432	AD	3

Links
Testing Gene Tests GTR	Genome Ensembl NCBI Map Viewer UCSC Genome Browser	DNA Ensembl NCBI RefSeq UCSC Genome Browser	Protein HPRD Human Protein Atlas UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG NCBI Gene UCSC	Clinical Resources ClinGen Dosage Gene Tests GTR	Variation 1000 Genome ClinVar ExAC GWAS Central HGMD HGVS NHLBI EVS PharmGKB	Animal Models IMPC KOMP MGI Mouse Gene NCBI HomoloGene Wormbase Gene WBGene00139741 WBGene00065016 WBGene00087469 WBGene00000445 WBGene00000447 WBGene00105224 ZFin	Cellular Pathways Reactome

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* 601620. T-BOX 5; TBX5
Cytogenetic location: 12q24.21, Genomic coordinates (GRCh38): 12:114,353,910-114,408,707
Matching terms: id2
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
12q24.21	Holt-Oram syndrome	142900	AD	3

Links
Testing Gene Tests GTR	Genome Ensembl NCBI Map Viewer UCSC Genome Browser	DNA Ensembl NCBI RefSeq UCSC Genome Browser	Protein HPRD Human Protein Atlas UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG NCBI Gene UCSC	Clinical Resources ClinGen Dosage Gene Tests Genetics Home Reference GTR	Variation 1000 Genome ClinVar ExAC GWAS Catalog GWAS Central HGMD HGVS NHLBI EVS PharmGKB	Animal Models IMPC KOMP MGI Mouse Gene NCBI HomoloGene ZFin	Cellular Pathways Reactome

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Search: ID2-AS1

Results: 62 entries.

* 600386. INHIBITOR OF DNA BINDING 2; ID2
Cytogenetic location: 2p25.1, Genomic coordinates (GRCh38): 2:8,681,982-8,684,452
Matching terms: id2

# 607277. ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1
Cytogenetic location: 14q22.1
Matching terms: as1
Phenotype-Gene Relationships

* 600349. INHIBITOR OF DNA BINDING 1; ID1
Cytogenetic location: 20q11.21, Genomic coordinates (GRCh38): 20:31,605,282-31,606,514
Matching terms: id2

* 603349. ENDOTHELIAL PAS DOMAIN PROTEIN 1; EPAS1
Cytogenetic location: 2p21, Genomic coordinates (GRCh38): 2:46,297,401-46,386,702
Matching terms: id2
Gene-Phenotype Relationships

* 173910. POLYCYSTIN 2; PKD2
Cytogenetic location: 4q22.1, Genomic coordinates (GRCh38): 4:88,007,646-88,077,778
Matching terms: id2
Gene-Phenotype Relationships

* 601313. POLYCYSTIN 1; PKD1
Cytogenetic location: 16p13.3, Genomic coordinates (GRCh38): 16:2,088,707-2,135,897
Matching terms: id2
Gene-Phenotype Relationships

* 600584. NK2 HOMEOBOX 5; NKX2-5
Cytogenetic location: 5q35.1, Genomic coordinates (GRCh38): 5:173,232,103-173,235,311
Matching terms: id2
Gene-Phenotype Relationships

10:

* 601620. T-BOX 5; TBX5
Cytogenetic location: 12q24.21, Genomic coordinates (GRCh38): 12:114,353,910-114,408,707
Matching terms: id2
Gene-Phenotype Relationships