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 - OMIM
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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.
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2:
* 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
ICD+
SNOMEDCT: 1230096008

3:
* 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

5:
* 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
Spinocerebellar ataxia 19 607346 AD 3
ICD+
SNOMEDCT: 719251009

8:
* 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
Brugada syndrome 7 613120 AD 3

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
Brugada syndrome - PS601144 - 11 Entries
Atrial fibrillation, familial - PS608583 - 20 Entries
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.

1:
* 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

2:
* 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

3:
* 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

4:
* 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

5:
* 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

6:
* 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

7:
* 607954. RAN GUANINE NUCLEOTIDE RELEASE FACTOR; RANGRF
Cytogenetic location: 17p13.1, Genomic coordinates (GRCh38): 17:8,288,670-8,290,087
Matching terms: 607954

8:
* 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

9:
# 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