Entry Search - 114180 114182 114183 114251 180902 600681 603283 604772 611938 614021 614916 615441 617242

Search: '114180 114182 114183 114251 180902 600681 603283 604772 611938 614021 614916 615441 617242 (Search in: MIM number)'

Results: 13 entries.

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* 114180. CALMODULIN 1; CALM1
Cytogenetic location: 14q32.11, Genomic coordinates (GRCh38): 14:90,396,502-90,408,268
Matching terms: 114180
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
14q32.11	Long QT syndrome 14	616247	AD	3
14q32.11	Ventricular tachycardia, catecholaminergic polymorphic, 4	614916	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 GTR	Variation ClinVar 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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* 114182. CALMODULIN 2; CALM2
Cytogenetic location: 2p21, Genomic coordinates (GRCh38): 2:47,160,082-47,176,936
Matching terms: 114182
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2p21	Long QT syndrome 15	616249	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 GTR	Variation ClinVar 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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* 114183. CALMODULIN 3; CALM3
Cytogenetic location: 19q13.32, Genomic coordinates (GRCh38): 19:46,601,074-46,610,782
Matching terms: 114183
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
19q13.32	?Ventricular tachycardia, catecholaminergic polymorphic 6	618782	AD	3
19q13.32	Long QT syndrome 16	618782	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 GTR	Variation ClinVar 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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* 114251. CALSEQUESTRIN 2; CASQ2
Cytogenetic location: 1p13.1, Genomic coordinates (GRCh38): 1:115,700,021-115,768,714
Matching terms: 114251
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1p13.1	Ventricular tachycardia, catecholaminergic polymorphic, 2	611938	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 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 gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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# 611938. VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2
Cytogenetic location: 1p13.1
Matching terms: 611938
► 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
1p13.1	Ventricular tachycardia, catecholaminergic polymorphic, 2	611938	AR	3	CASQ2	114251

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Ventricular tachycardia, catecholaminergic polymorphic - PS604772 - 7 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p13.1	Ventricular tachycardia, catecholaminergic polymorphic, 2	AR	3	611938	CASQ2	114251
1q43	Ventricular tachycardia, catecholaminergic polymorphic, 1	AD	3	604772	RYR2	180902
4q13.1	Ventricular tachycardia, catecholaminergic polymorphic, 3	AR	3	614021	TECRL	617242
6q22.31	Cardiac arrhythmia syndrome, with or without skeletal muscle weakness	AR	3	615441	TRDN	603283
14q32.11	Ventricular tachycardia, catecholaminergic polymorphic, 4	AD	3	614916	CALM1	114180
19q13.32	?Ventricular tachycardia, catecholaminergic polymorphic 6	AD	3	618782	CALM3	114183
19q13.32	Long QT syndrome 16	AD	3	618782	CALM3	114183

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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: 3286 DO: 0060676

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# 614021. VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3; CPVT3
Cytogenetic location: 4q13.1
Matching terms: 614021
► 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
4q13.1	Ventricular tachycardia, catecholaminergic polymorphic, 3	614021	AR	3	TECRL	617242

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Ventricular tachycardia, catecholaminergic polymorphic - PS604772 - 7 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p13.1	Ventricular tachycardia, catecholaminergic polymorphic, 2	AR	3	611938	CASQ2	114251
1q43	Ventricular tachycardia, catecholaminergic polymorphic, 1	AD	3	604772	RYR2	180902
4q13.1	Ventricular tachycardia, catecholaminergic polymorphic, 3	AR	3	614021	TECRL	617242
6q22.31	Cardiac arrhythmia syndrome, with or without skeletal muscle weakness	AR	3	615441	TRDN	603283
14q32.11	Ventricular tachycardia, catecholaminergic polymorphic, 4	AD	3	614916	CALM1	114180
19q13.32	?Ventricular tachycardia, catecholaminergic polymorphic 6	AD	3	618782	CALM3	114183
19q13.32	Long QT syndrome 16	AD	3	618782	CALM3	114183

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

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ICD+
ORPHA: 3286 DO: 0060677

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# 614916. VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4; CPVT4
Cytogenetic location: 14q32.11
Matching terms: 614916
► 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
14q32.11	Ventricular tachycardia, catecholaminergic polymorphic, 4	614916	AD	3	CALM1	114180

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Ventricular tachycardia, catecholaminergic polymorphic - PS604772 - 7 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p13.1	Ventricular tachycardia, catecholaminergic polymorphic, 2	AR	3	611938	CASQ2	114251
1q43	Ventricular tachycardia, catecholaminergic polymorphic, 1	AD	3	604772	RYR2	180902
4q13.1	Ventricular tachycardia, catecholaminergic polymorphic, 3	AR	3	614021	TECRL	617242
6q22.31	Cardiac arrhythmia syndrome, with or without skeletal muscle weakness	AR	3	615441	TRDN	603283
14q32.11	Ventricular tachycardia, catecholaminergic polymorphic, 4	AD	3	614916	CALM1	114180
19q13.32	?Ventricular tachycardia, catecholaminergic polymorphic 6	AD	3	618782	CALM3	114183
19q13.32	Long QT syndrome 16	AD	3	618782	CALM3	114183

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

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ICD+
ORPHA: 3286 DO: 0060678

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# 615441. CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS; CARDAR
Cytogenetic location: 6q22.31
Matching terms: 615441
► 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
6q22.31	Cardiac arrhythmia syndrome, with or without skeletal muscle weakness	615441	AR	3	TRDN	603283

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Ventricular tachycardia, catecholaminergic polymorphic - PS604772 - 7 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p13.1	Ventricular tachycardia, catecholaminergic polymorphic, 2	AR	3	611938	CASQ2	114251
1q43	Ventricular tachycardia, catecholaminergic polymorphic, 1	AD	3	604772	RYR2	180902
4q13.1	Ventricular tachycardia, catecholaminergic polymorphic, 3	AR	3	614021	TECRL	617242
6q22.31	Cardiac arrhythmia syndrome, with or without skeletal muscle weakness	AR	3	615441	TRDN	603283
14q32.11	Ventricular tachycardia, catecholaminergic polymorphic, 4	AD	3	614916	CALM1	114180
19q13.32	?Ventricular tachycardia, catecholaminergic polymorphic 6	AD	3	618782	CALM3	114183
19q13.32	Long QT syndrome 16	AD	3	618782	CALM3	114183

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR GARD OrphaNet	Animal Models MGI Mouse Phenotype NCBI HomoloGene

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ICD+
ORPHA: 3286 DO: 0060679

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* 617242. TRANS-2,3-ENOYL-CoA REDUCTASE-LIKE PROTEIN; TECRL
Cytogenetic location: 4q13.1, Genomic coordinates (GRCh38): 4:64,276,298-64,409,460
Matching terms: 617242
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
4q13.1	Ventricular tachycardia, catecholaminergic polymorphic, 3	614021	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 Validity GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene Wormbase Gene Wormbase Gene	Cellular Pathways Reactome

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10:

* 180902. RYANODINE RECEPTOR 2; RYR2
Cytogenetic location: 1q43, Genomic coordinates (GRCh38): 1:237,042,184-237,833,988
Matching terms: 180902
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1q43	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	115000	AD	3
1q43	Ventricular tachycardia, catecholaminergic polymorphic, 1	604772	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 GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs 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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Search: 114180 114182 114183 114251 180902 600681 603283 604772 611938 614021 614916 615441 617242 (Search in: MIM number)

Results: 13 entries.

* 114180. CALMODULIN 1; CALM1
Cytogenetic location: 14q32.11, Genomic coordinates (GRCh38): 14:90,396,502-90,408,268
Matching terms: 114180

* 114182. CALMODULIN 2; CALM2
Cytogenetic location: 2p21, Genomic coordinates (GRCh38): 2:47,160,082-47,176,936
Matching terms: 114182

* 114183. CALMODULIN 3; CALM3
Cytogenetic location: 19q13.32, Genomic coordinates (GRCh38): 19:46,601,074-46,610,782
Matching terms: 114183

* 114251. CALSEQUESTRIN 2; CASQ2
Cytogenetic location: 1p13.1, Genomic coordinates (GRCh38): 1:115,700,021-115,768,714
Matching terms: 114251

# 611938. VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2
Cytogenetic location: 1p13.1
Matching terms: 611938

# 614021. VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3; CPVT3
Cytogenetic location: 4q13.1
Matching terms: 614021

# 614916. VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4; CPVT4
Cytogenetic location: 14q32.11
Matching terms: 614916

# 615441. CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS; CARDAR
Cytogenetic location: 6q22.31
Matching terms: 615441

* 617242. TRANS-2,3-ENOYL-CoA REDUCTASE-LIKE PROTEIN; TECRL
Cytogenetic location: 4q13.1, Genomic coordinates (GRCh38): 4:64,276,298-64,409,460
Matching terms: 617242

10:

* 180902. RYANODINE RECEPTOR 2; RYR2
Cytogenetic location: 1q43, Genomic coordinates (GRCh38): 1:237,042,184-237,833,988
Matching terms: 180902

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