Entry Search - 114204 114205 152427 300328 600003 600163 600235 600935 601144 601327 601439 601513 602701 602861 603796 603961 604427 604433 605206 605410 605411 606936 607954 608214 611777 611778 611875 611876 612838 613119 613120 613123 616399

Search: '114204 114205 152427 300328 600003 600163 600235 600935 601144 601327 601439 601513 602701 602861 603796 603961 604427 604433 605206 605410 605411 606936 607954 608214 611777 611778 611875 611876 612838 613119 613120 613123 616399 (Search in: MIM number)'

Results: 33 entries.

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* 114204. CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-2/DELTA SUBUNIT 1; CACNA2D1
Cytogenetic location: 7q21.11, Genomic coordinates (GRCh38): 7:81,946,444-82,443,956
Matching terms: 114204
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
7q21.11	Developmental and epileptic encephalopathy 110	620149	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 Validity GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene WBGene00006772 WBGene00007041 ZFin	Cellular Pathways KEGG Reactome

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* 114205. CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C
Cytogenetic location: 12p13.33, Genomic coordinates (GRCh38): 12:1,970,780-2,697,950
Matching terms: 114205
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
12p13.33	Brugada syndrome 3	611875	AD	3
	Long QT syndrome 8	618447	AD	3
	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	620029	AD	3
	Timothy syndrome	601005	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 Zhejiang University-Adinov… Gene Connection for the He… NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 1230096008

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* 605206. HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL 4; HCN4
Cytogenetic location: 15q24.1, Genomic coordinates (GRCh38): 15:73,319,859-73,368,958
Matching terms: 605206
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
15q24.1	{Epilepsy, idiopathic generalized, susceptibility to, 18}	619521	AD	3
	Brugada syndrome 8	613123		3
	Sick sinus syndrome 2	163800	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 DECIPHER gnomAD GWAS Catalog GWAS Central HGMD 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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* 605410. POTASSIUM VOLTAGE-GATED CHANNEL, SHAL-RELATED SUBFAMILY, MEMBER 2; KCND2
Cytogenetic location: 7q31.31, Genomic coordinates (GRCh38): 7:120,272,908-120,750,337
Matching terms: 605410
► 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 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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* 605411. POTASSIUM VOLTAGE-GATED CHANNEL, SHAL-RELATED SUBFAMILY, MEMBER 3; KCND3
KCND3L, INCLUDED
Cytogenetic location: 1p13.2, Genomic coordinates (GRCh38): 1:111,770,662-111,989,668
Matching terms: 605411
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1p13.2	Brugada syndrome 9	616399	AD	3
1p13.2	Spinocerebellar ataxia 19	607346	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 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 Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 719251009

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* 300328. POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED FAMILY, MEMBER 1-LIKE; KCNE1L
Cytogenetic location: Xq23, Genomic coordinates (GRCh38): X:109,623,700-109,625,172
Matching terms: 300328
► 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 ClinGen Validity GTR	Variation ClinVar gnomAD GWAS Central Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB	Cellular Pathways Reactome

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* 607954. RAN GUANINE NUCLEOTIDE RELEASE FACTOR; RANGRF
Cytogenetic location: 17p13.1, Genomic coordinates (GRCh38): 17:8,288,670-8,290,087
Matching terms: 607954
► 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 ClinGen Validity GTR	Variation ClinVar gnomAD 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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* 608214. SODIUM VOLTAGE-GATED CHANNEL, BETA SUBUNIT 3; SCN3B
Cytogenetic location: 11q24.1, Genomic coordinates (GRCh38): 11:123,629,188-123,654,624
Matching terms: 608214
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
11q24.1	Atrial fibrillation, familial, 16	613120	AD	3
11q24.1	Brugada syndrome 7	613120	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 Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways Reactome

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# 613119. BRUGADA SYNDROME 6; BRGDA6
Cytogenetic location: 11q13.4
Matching terms: 613119
► 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
11q13.4	?Brugada syndrome 6	613119		3	KCNE3	604433

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Brugada syndrome - PS601144 - 11 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p13.2	Brugada syndrome 9	AD	3	616399	KCND3	605411
3p22.3	Brugada syndrome 2	AD	3	611777	GPD1L	611778
3p22.2	Brugada syndrome 1	AD	3	601144	SCN5A	600163
10p12.33-p12.31	Brugada syndrome 4	AD	3	611876	CACNB2	600003
11q13.4	?Brugada syndrome 6		3	613119	KCNE3	604433
11q24.1	Brugada syndrome 7	AD	3	613120	SCN3B	608214
11q24.1	Atrial fibrillation, familial, 16	AD	3	613120	SCN3B	608214
12p13.33	Brugada syndrome 3	AD	3	611875	CACNA1C	114205
15q24.1	Brugada syndrome 8		3	613123	HCN4	605206
19q13.11	Brugada syndrome 5		3	612838	SCN1B	600235
19q13.11	Cardiac conduction defect, nonspecific		3	612838	SCN1B	600235

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype

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ICD+
ORPHA: 130 DO: 0110223

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10:

# 613120. BRUGADA SYNDROME 7; BRGDA7
ATRIAL FIBRILLATION, FAMILIAL, 16, INCLUDED; ATFB16, INCLUDED
Cytogenetic locations: 11q24.1,
Matching terms: 613120
► 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
11q24.1	Brugada syndrome 7	613120	AD	3	SCN3B	608214
11q24.1	Atrial fibrillation, familial, 16	613120	AD	3	SCN3B	608214

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Brugada syndrome - PS601144 - 11 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p13.2	Brugada syndrome 9	AD	3	616399	KCND3	605411
3p22.3	Brugada syndrome 2	AD	3	611777	GPD1L	611778
3p22.2	Brugada syndrome 1	AD	3	601144	SCN5A	600163
10p12.33-p12.31	Brugada syndrome 4	AD	3	611876	CACNB2	600003
11q13.4	?Brugada syndrome 6		3	613119	KCNE3	604433
11q24.1	Brugada syndrome 7	AD	3	613120	SCN3B	608214
11q24.1	Atrial fibrillation, familial, 16	AD	3	613120	SCN3B	608214
12p13.33	Brugada syndrome 3	AD	3	611875	CACNA1C	114205
15q24.1	Brugada syndrome 8		3	613123	HCN4	605206
19q13.11	Brugada syndrome 5		3	612838	SCN1B	600235
19q13.11	Cardiac conduction defect, nonspecific		3	612838	SCN1B	600235

Atrial fibrillation, familial - PS608583 - 20 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p36.22	Atrial fibrillation, familial, 6	AD	3	612201	NPPA	108780
1q21.2	Atrial fibrillation, familial, 11	AD	3	614049	GJA5	121013
3p22.2	Atrial fibrillation, familial, 10	AD	3	614022	SCN5A	600163
4q25	{Atrial fibrillation, familial, 5}		2	611494	ATFB5	611494
5p13.2	?Atrial fibrillation 15	AR	3	615770	NUP155	606694
6q14-q16	Atrial fibrillation, familial, 2		2	608988	ATFB2	608988
10q22-q24	Atrial fibrillation, familial, 1	AD	2	608583	ATFB1	608583
11p15.5-p15.4	Atrial fibrillation, familial, 3	AD	3	607554	KCNQ1	607542
11q23.3	Atrial fibrillation, familial, 17	AD	3	611819	SCN4B	608256
11q23.3	Long QT syndrome 10	AD	3	611819	SCN4B	608256
11q23.3	Atrial fibrillation, familial, 14	AD	3	615378	SCN2B	601327
11q24.1	Brugada syndrome 7	AD	3	613120	SCN3B	608214
11q24.1	Atrial fibrillation, familial, 16	AD	3	613120	SCN3B	608214
12p13.32	Atrial fibrillation, familial, 7	AD	3	612240	KCNA5	176267
12p12.1	?Atrial fibrillation, familial, 12	AD	3	614050	ABCC9	601439
16q22.2-q22.3	{Atrial fibrillation 8, susceptibility to}	AD	3	613055	ZFHX3	104155
17q21.32	?Atrial fibrillation, familial, 18	AD	3	617280	MYL4	160770
17q24.3	Atrial fibrillation, familial, 9	AD	3	613980	KCNJ2	600681
19q13.11	Atrial fibrillation, familial, 13	AD	3	615377	SCN1B	600235
21q22.11	Atrial fibrillation, familial, 4		3	611493	KCNE2	603796

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Links
Testing GTR EuroGentest Brugada syndrome Familial atrial fibrillati…	Clinical Resources Clinical Trials EuroGentest Brugada syndrome Familial atrial fibrillati… Gene Reviews Genetic Alliance GTR OrphaNet Brugada syndrome Familial atrial fibrillati…	Animal Models Alliance Genome MGI Mouse Phenotype

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ICD+
ORPHA: 130, 334 DO: 0110224

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Search: 114204 114205 152427 300328 600003 600163 600235 600935 601144 601327 601439 601513 602701 602861 603796 603961 604427 604433 605206 605410 605411 606936 607954 608214 611777 611778 611875 611876 612838 613119 613120 613123 616399 (Search in: MIM number)

Results: 33 entries.

* 114204. CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-2/DELTA SUBUNIT 1; CACNA2D1
Cytogenetic location: 7q21.11, Genomic coordinates (GRCh38): 7:81,946,444-82,443,956
Matching terms: 114204

* 114205. CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C
Cytogenetic location: 12p13.33, Genomic coordinates (GRCh38): 12:1,970,780-2,697,950
Matching terms: 114205

* 605206. HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL 4; HCN4
Cytogenetic location: 15q24.1, Genomic coordinates (GRCh38): 15:73,319,859-73,368,958
Matching terms: 605206

* 605410. POTASSIUM VOLTAGE-GATED CHANNEL, SHAL-RELATED SUBFAMILY, MEMBER 2; KCND2
Cytogenetic location: 7q31.31, Genomic coordinates (GRCh38): 7:120,272,908-120,750,337
Matching terms: 605410

* 300328. POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED FAMILY, MEMBER 1-LIKE; KCNE1L
Cytogenetic location: Xq23, Genomic coordinates (GRCh38): X:109,623,700-109,625,172
Matching terms: 300328

* 607954. RAN GUANINE NUCLEOTIDE RELEASE FACTOR; RANGRF
Cytogenetic location: 17p13.1, Genomic coordinates (GRCh38): 17:8,288,670-8,290,087
Matching terms: 607954

* 608214. SODIUM VOLTAGE-GATED CHANNEL, BETA SUBUNIT 3; SCN3B
Cytogenetic location: 11q24.1, Genomic coordinates (GRCh38): 11:123,629,188-123,654,624
Matching terms: 608214

# 613119. BRUGADA SYNDROME 6; BRGDA6
Cytogenetic location: 11q13.4
Matching terms: 613119

10:

# 613120. BRUGADA SYNDROME 7; BRGDA7
ATRIAL FIBRILLATION, FAMILIAL, 16, INCLUDED; ATFB16, INCLUDED
Cytogenetic locations: 11q24.1,
Matching terms: 613120

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