1. Gene
  2. GJA5 - gap junction protein alpha 5 Gene

GJA5 - gap junction protein alpha 5 Gene

中文名称:缝隙连接蛋白α5

种属: Homo sapiens

同用名: CX40; ATFB11

基因 ID: 2702 | 基因类型: protein coding

关于 GJA5

Cytogenetic location: 1q21.2 Genomic coordinates (GRCh38): 1:147,756,199-147,773,351 (from NCBI)

This gene has 3 transcripts (splice variants), 257 orthologues, 20 paralogues and is associated with 5 phenotypes. Biased expression in placenta (RPKM 23.7), lung (RPKM 11.2) and 11 other tissues.

功能概要

该基因是连接蛋白基因家族的成员。编码的蛋白质是间隙连接的一个组成部分,间隙连接由细胞间通道阵列组成,这些通道为低分子量材料从细胞到细胞的扩散提供了途径。该基因的突变可能与房颤有关。已经描述了编码相同亚型的选择性剪接转录物变体。[RefSeq 提供,2008 年 7 月]

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight Materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]

GJA5 基因产物(2)

mRNA Protein Name
NM_005266.7 NP_005257.2 gap junction alpha-5 protein
NM_181703.4 NP_859054.1 gap junction alpha-5 protein
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in AV node cell to bundle of His cell communication by electrical coupling IMP
IMP: 通过突变表型推断
22247482 GOA
involved in angiogenesis IEP
IEP: 通过表达模式推断
11866539 GOA
involved in atrial cardiac muscle cell to AV node cell communication by electrical coupling IMP
IMP: 通过突变表型推断
16790700 GOA
involved in atrial septum development IMP
IMP: 通过突变表型推断
22199024 GOA
involved in bundle of His cell to Purkinje myocyte communication by electrical coupling IMP
IMP: 通过突变表型推断
22247482 GOA
involved in cell communication by electrical coupling involved in cardiac conduction IDA
IDA: 通过直接分析推断
16790700 GOA
involved in gap junction assembly IDA
IDA: 通过直接分析推断
22247482 GOA
involved in gap junction assembly IMP
IMP: 通过突变表型推断
16790700 GOA
involved in mitral valve development IMP
IMP: 通过突变表型推断
22199024 GOA
involved in outflow tract morphogenesis IMP
IMP: 通过突变表型推断
22199024 GOA
involved in pulmonary valve formation IMP
IMP: 通过突变表型推断
22199024 GOA
involved in regulation of AV node cell action potential IMP
IMP: 通过突变表型推断
22247482 GOA
involved in regulation of Purkinje myocyte action potential IMP
IMP: 通过突变表型推断
22247482 GOA
involved in regulation of atrial cardiac muscle cell action potential IMP
IMP: 通过突变表型推断
23348765 GOA
involved in regulation of atrial cardiac muscle cell membrane depolarization IMP
IMP: 通过突变表型推断
22247482 GOA
involved in regulation of bundle of His cell action potential IMP
IMP: 通过突变表型推断
22247482 GOA
involved in regulation of cardiac muscle contraction IMP
IMP: 通过突变表型推断
16790700 GOA
involved in ventricular septum development IMP
IMP: 通过突变表型推断
22199024 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of connexin complex IDA
IDA: 通过直接分析推断
22247482 GOA
located in gap junction IDA
IDA: 通过直接分析推断
23348765 GOA
located in intercalated disc IDA
IDA: 通过直接分析推断
16790700 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
22247482 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

GJA5 蛋白结构

Connexin

Connexin: Connexin (3 - 107)

(163 - 229)

  • 0
  • 100
  • 200
  • 300
  • 358 a.a.
蛋白主名 其他名称

gap junction alpha-5 protein

connexin 40

GJA5 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra GJA5 P36382 NIPAL3 Homo sapiens Q6P499
Validated Y2H
32296183
Intra GJA5 P36382 SLC41A2 Homo sapiens Q96JW4
Validated Y2H
32296183
Intra GJA5 P36382 TMBIM6 Homo sapiens P55061
Validated Y2H
32296183
Intra GJA5 P36382 RPRM Homo sapiens Q9NS64
Validated Y2H
32296183
Intra GJA5 P36382 JPH3 Homo sapiens Q8WXH2
Y2H Pooling
32814053
Intra GJA5 P36382 JPH3 Homo sapiens Q8WXH2
Validated Y2H
32814053
Intra GJA5 P36382 JPH3 Homo sapiens Q8WXH2
Y2H Array
32814053
Intra GJA5 P36382 NEK7 Homo sapiens Q8TDX7
Y2H Array
32814053
Intra GJA5 P36382 NEK7 Homo sapiens Q8TDX7
Validated Y2H
32814053
Intra GJA5 P36382 NEK7 Homo sapiens Q8TDX7
Y2H Pooling
32814053
Intra GJA5 P36382 C4orf3 Homo sapiens Q8WVX3-2
Validated Y2H
32296183
Intra GJA5 P36382 MS4A13 Homo sapiens Q5J8X5
Validated Y2H
32296183
Intra GJA5 P36382 VRK2 Homo sapiens Q86Y07
Validated Y2H
32296183
Intra GJA5 P36382 PGAP2 Homo sapiens Q9UHJ9-5
Validated Y2H
32296183
Intra GJA5 P36382 SLC41A1 Homo sapiens Q8IVJ1
Validated Y2H
32296183
Intra GJA5 P36382 SLC13A4 Homo sapiens Q9UKG4
Validated Y2H
32296183
Intra GJA5 P36382 TMEM107 Homo sapiens Q6UX40
Validated Y2H
32296183
Intra GJA5 P36382 SLC66A1 Homo sapiens Q6ZP29-3
Validated Y2H
32296183
Intra GJA5 P36382 SLC35F1 Homo sapiens Q5T1Q4
Validated Y2H
32296183
Intra GJA5 P36382 TREX1 Homo sapiens Q9NSU2-1
Validated Y2H
32296183
Intra GJA5 P36382 LHFPL2 Homo sapiens Q6ZUX7
Validated Y2H
32296183
Intra GJA5 P36382 BLCAP Homo sapiens P62952
Validated Y2H
32296183
Intra GJA5 P36382 EMP3 Homo sapiens P54852
Validated Y2H
32296183
Intra GJA5 P36382 NKG7 Homo sapiens Q16617
Validated Y2H
32296183
Intra GJA5 P36382 MFSD5 Homo sapiens Q6N075
Validated Y2H
32296183
Intra GJA5 P36382 YIPF6 Homo sapiens Q96EC8
Validated Y2H
32296183
Intra GJA5 P36382 SLC30A2 Homo sapiens Q9BRI3
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Atrial Fibrillation, Familial, 11

ATFB11

Fibrillation, Atrial, Familial, Type 11

Atrial Standstill 1

ATRST1

Atrial Cardiomyopathy With Heart Block

Cardiomyopathy, Familial, With Conduction Disturbance

Atrial Standstill, Digenic

Familial Cardiomyopathy With Conduction Disturbance

Standstill, Atrial, Type 1

Heart Block

Cardiomyopathies

Idiopathic Cardiomyopathy

Idiopathic Cardiopathy

Primary Myocardial Disease

Primary Cardiomyopathy

Myocardiopathy

Myocardosis

Primary Idiopathic Myocardial Disease

Familial Atrial Fibrillation

Atrial Fibrillation, Familial

Atfb

Atrial Fibrillation Autosomal Dominant

Autosomal Dominant Atrial Fibrillation

Auricular Fibrillation

Atrial Fibrillation

Atrial Fibrillation, Familial, 1

Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Chromosome 1q21.1 Deletion Syndrome

1q21.1 Microdeletion Syndrome

Monosomy 1q21.1

1q21.1 Microdeletion

Chromosome 1q21.1 Microdeletion Syndrome

1q21.1 Contiguous Gene Deletion

1q21.1 Deletion

Del(1)(Q21)

1q21.1 Deletion Syndrome

Atrial Fibrillation

A-Fib

Fibrillation, Atrial

Af - [Atrial Fibrillation]

Rapid Atrial Fibrillation

A Fib - [Atrial Fibrillation]

Atrial Standstill

Atrial Cardiomyopathy With Heart Block

Standstill, Atrial

Cardiomyopathy, Familial, With Conduction Disturbance

Tetralogy Of Fallot

TOF

Fallot Tetralogy

Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

Tetrad Of Fallot

Fallot Tetrad

Fallot Disease

Fallot Complex

Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

Interventricular Septal Defect, In Tetralogy Of Fallot

Ventricular Septal Defect With Obstructed Right Ventricular Outflow

Tof - [Tetralogy Of Fallot]

Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

Pulmonary Atresia, Ventricular Septal Defect And Mapcas

Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Progressive Familial Heart Block, Type Ia

PFHB1A

Bundle Branch Block

Heart Block, Nonprogressive

Lenegre-Lev Disease

Hereditary Bundle Branch System Defect

Progressive Familial Heart Block Type Ia

Pfhbia

Pccd

Hbbd

Progressive Familial Heart Block, Type 1a

Heart Block, Progressive Familial, Type I

Pfhbi

Cardiac Conduction Defect, Progressive

Heart Block, Progressive, Type Ia

Progressive Familial Heart Block Type 1a

Familial Progressive Cardiac Conduction Defect

Heart Block Progressive Familial Type 1

Familial Lenègre Disease

Familial Lev Disease

Familial Lev-Lenègre Disease

Familial Pccd

Familial Progressive Heart Block

Hereditary Bundle Branch Defect

Progressive Familial Heart Block

Progressive Familial Heart Block 1a

Cardiac Conduction Defect

Progressive Cardiac Conduction Defect

Progressive Familial Heart Block Type I

Heart Block, Progressive, Familial, Type 1a

Bundle-Branch Block

Conduction Disorder Of The Heart

Sinoatrial Node Disease

Sa Node

Sinuatrial Node

Sinus Node Dysfunction

Oculodentodigital Dysplasia

Odd Syndrome

ODDD

Oculodentoosseous Dysplasia

Oculodentodigital Syndrome

Odod

Oculo-Dento-Digital Dysplasia

Oculo-Dento-Digital Syndrome

Oculo-Dento-Osseous Dysplasia

Osseous-Oculo-Dental Dysplasia

Meyer-Schwickerath Syndrome

Oddd Syndrome

Oculo Dento Digital Dysplasia

Odds

Oculodentodigital Dysplasia Syndrome

Rheumatic Heart Disease

Rheumatic Carditis

Rheumatic Congestive Heart Failure

Congestive Rheumatic Heart Failure

Rheumatic Heart Failure

RHD

Rheumatic Fever Inactive Or Quiescent With Heart Disease

Rheumatic Fever Inactive Or Quiescent With Carditis

Organ Rheumatic Heart Disease

Organic Rheumatic Heart Disease

Inactive Rheumatic Heart Disease

Rheumatic Heart

Rheumatic Fever Inactive Or Quiescent With Pancarditis

Rhd - [Rheumatic Heart Disease]

Rheumatic Cardiac Hypertrophy

Rheumatic Fever

Inactive Or Quiescent With Cardiac Hypertrophy

Rheumatic Pancarditis

Inactive Rhd - [Rheumatic Heart Disease]

Rheumatic Nonischaemic Cardiopathy

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Progressive Familial Heart Block

Hereditary Bundle Branch Defect

Hereditary Bundle Branch System Defect

Familial Lenegre Disease

Familial Lev Disease

Familial Lev-Lenegre Disease

Familial Pccd

Familial Progressive Heart Block

Pfhb

Bundle Branch Block

Hbbd

Lenegre Lev Disease

Lev Syndrome

Lev'S Disease

Lev-Lenègre Disease

Pccd

Progressive Cardiac Conduction Defect

Bundle-Branch Block

Third-Degree Atrioventricular Block

Third Degree Atrioventricular Block

Complete Atrioventricular Block

Complete Av Block

Third-Degree Block

Complete Atrioventricular Heart Block

Complete Heart Block

Third Degree Atrioventricular Heart Block

Third Degree Heart Block

Complete Heart Block Nos

Chb - [Complete Heart Block]

Idioventricular Rhythm

Av - [Atrioventricular] Block, Complete

Holt-Oram Syndrome

HOS

Atriodigital Dysplasia

Heart-Hand Syndrome

Atrio-Digital Syndrome

Cardiac-Limb Syndrome

Heart-Hand Syndrome, Type 1

Ventriculo-Radial Syndrome

Hos1

Heart Hand Syndrome

Atrio Digital Syndrome

Hos 1

Atriodigital Dysplasia Type 1

Heart-Hand Syndrome Type 1

Holt Oram Syndrome

Heart Conduction Disease

Conduction Disorder Of The Heart

Heart Rhythm Disease

Craniometaphyseal Dysplasia, Autosomal Recessive

CMDR

Autosomal Recessive Craniometaphyseal Dysplasia

Craniometaphyseal Dysplasia, Autosomal Recessive Type

Dysplasia, Craniometaphyseal, Autosomal Recessive

Atrioventricular Block

Av Block

Sick Sinus Syndrome

Sinus Node Dysfunction

Sinus Node Disease

Sinus Node Infection

Snd

Sss

Snd - [Sinus Node Dysfunction]

Sinoatrial Node Dysfunction

Sss - [Sick Sinus Syndrome]

Sick Sinus

Sick Sinus Tachycardia

Palmoplantar Keratoderma And Congenital Alopecia 1

Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia

PPKCA1

Keratoderma-Hypotrichosis-Leukonychia Totalis Syndrome

Autosomal Dominant Palmoplantar Hyperkeratosis And Congenital Alopecia

Palmoplantar Keratoderma And Congenital Alopecia, Stevanovic Type

Ppk-Ca, Stevanovic Type

Ppkca, Stevanovic Type

Palmoplantar Keratoderma With Congenital Alopecia

Ppkca Stevanovic Type

Alopecia Congenita With Hyperkeratosis Of The Palms And Soles

Alopecia Congenita Keratosis Palmoplantaris

Keratoderma, Palmoplantar, With Congenital Alopecia, Type 1

Clouston Syndrome

Ectodermal Dysplasia 2, Clouston Type

Hidrotic Ectodermal Dysplasia

ECTD2

Clouston'S Hidrotic Ectodermal Dysplasia

Hidrotic Ectodermal Dysplasia Syndrome

Clouston Hidrotic Ectodermal Dysplasia

Clouston'S Syndrome

Ed2

Ectodermal Dysplasia, Hidrotic

Hed2

Ectodermal Dysplasia

Ectodermal Dysplasia, Hidrotic, Autosomal Dominant

Ectodermal Dysplasia, Hidrotic, 2, Formerly

Hed2, Formerly

Autosomal Dominant Hidrotic Ectodermal Dysplasia

Hed

Hidrotic Ectodermal Dysplasia, Autosomal Dominant

Hidrotic Ectodermal Dysplasia 2

Ectodermal Dysplasia 2 Hidrotic

Ectodermal Dysplasia Hidrotic Autosomal Dominant

Dysplasia, Ectodermal, Hidrotic

Gastric Liposarcoma

Liposarcoma Of The Stomach

Heart Septal Defect

Septal Defect

Heart Septal Defects

Cardiac Septal Defects

Congenital Septal Defect Of Heart

First-Degree Atrioventricular Block

First Degree Atrioventricular Block

First Degree Heart Block

Incomplete Atrioventricular Block, First Degree

First Degree Atrioventricular Heart Block

Vohwinkel Syndrome

Mutilating Keratoderma

Keratoderma Hereditarium Mutilans

Khm

VOWNKL

Deafness, Congenital, With Keratopachydermia And Constrictions Of Fingers And Toes

Mutilating Keratoderma Of Vohwinkel

Mutilating Keratoderma Plus Deafness

Ppk Mutilans And Deafness

Congenital Deafness With Keratopachydermia And Constrictions Of Fingers And Toes

Congenital Deafness With Keratopachydermia And Constrictions Fo Fingers And Toes

Palmoplantar Keratoderma Mutilans

Palmoplantar Keratoderma Mutilans Vohwinkel

Ppk Mutilans Vohwinkel

Mutilating Keratoderma Plus Hearing Loss

Ppk Mutilans And Hearing Loss

Atrioventricular Septal Defect

AVSD

Atrioventricular Canal Defect

Avcd

Endocardial Cushion Defect

Ecd

Avc Defect

Atrioventricular Septal Defect, Susceptibility To, 1

Atrioventricular Septal Defect 1

Endocardial Cushion Defects

Septal Defect, Atrioventricular

Atrioventricular Defect With Atrial Shunting Only

Incomplete Atrioventricular Septal Defect With Isolated Atrial Component

Incomplete Atrioventricular Canal Defect With Isolated Atrial Component

Primum Atrial Septal Defect

Partial Atrioventricular Canal Defect With Isolated Atrial Component

Partial Atrioventricular Septal Defect, Ostium Primum Type

Ostium Primum Atrial Septal Defect

Partial Atrioventricular Canal Defect

Partial Atrioventricular Septal Defect

Atrial Septum Primum Defect

Atrioventricular Canal Defect With Isolated Ventricular Component

Atrioventricular Canal Defect With Isolated Ventricular Communication

Atrioventricular Septal Defect With Isolated Ventricular Component

Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting

Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve

Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves

Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect

Intermediate Atrioventricular Canal Defect

Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices

Intermediate Atrioventricular Septal Defect

Transitional Atrioventricular Canal Defect

Transitional Atrioventricular Septal Defect

Complete Atrioventricular Canal With Atrial And Ventricular Components

Complete Atrioventricular Canal Defect

Complete Atrioventricular Septal Defect

Double Outlet Right Ventricle

Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect

Taussig-Bing Syndrome

Dextrotransposition Of Aorta

Taussig-Bing Syndrome Or Defect

Dorv

Dorv With Subpulmonary Vsd

Dorv-Tga

Double Outlet Right Ventricle With Transposition Of The Great Arteries

Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type

Taussig-Bing Heart

Taussig-Bing Malformation

Taussig-Bing Complex

Taussig-Bing Defect

Taussig-Bing

Double Outlet Right Ventricle With Remote Ventricular Septal Defect

Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect

Double Outlet Right Ventricle With Non-Committed Interventricular Communication

Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis

Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Ebstein Anomaly

Ebstein'S Anomaly

Ebstein'S Anomaly Of Common Atrioventricular Valve

Ebstein'S Anomaly Of Right Atrioventricular Valve

Ebstein'S Anomaly Of Tricuspid Valve

Ebstein'S Malformation

Ebstein Malformation Of The Tricuspid Valve

Ebstein Anomaly Of The Tricuspid Valve

Ebstein Disease

Accessory Tricuspid Valve Tissue

Congenital Ebstein Deformity Of Tricuspid Valve

Ebstein Syndrome

Ebstein Cardiopathy

Ebstein Anomaly Of Tricuspid Valve

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

Erythrokeratodermia Variabilis Et Progressiva 1

Erythrokeratodermia Variabilis

Erythrokeratodermia Variabilis Et Progressiva

Greither Disease

Ekv

Ekvp

PSEK

Erythrokeratodermia Variabilis With Erythema Gyratum Repens

Keratosis Palmoplantaris Transgrediens Et Progrediens

Transgrediens Et Progrediens Palmoplantar Keratoderma

EKVP1

Erythrokeratodermia, Progressive Symmetric

Erythrokeratodermia Figurata, Congenital Familial, In Plaques

Keratoderma Palmoplantaris Transgrediens

Keratosis Extremitatum Hereditaria Progrediens

Erythrokeratodermia Variabilis, Mendes Da Costa Type

Progressive Symmetric Erythrokeratodermia

Erythrokeratodermia Figurata Variabilis

Greither'S Disease

Ekv-P

Erythrokeratodermia Variabilis Of Mendes Da Costa

Progressive Symmetrical Erythrokeratoderma Of Gottron

Progressive Diffuse Ppk

Progressive Diffuse Palmoplantar Keratoderma

Transgrediens Et Progrediens Ppk

Darier-Gottron Disease

Erythrokeratodermia Progressiva Symmetrica

Progressive Symmetric Erythrokeratodermia, Gottron Type

Congenital Familial Erythrokeratodermia Figurata In Plaques

Erythrokeratodermia Progressive Symmetric

Erythrokeratodermia Variabilis Mendes Da Costa Type

Wolff-Parkinson-White Syndrome

Wolff-Parkinson-White Pattern

Wpw Syndrome

Anomalous Atrioventricular Excitation

Anomalous A-V Excitation

Ventricular Pre-Excitation With Arrhythmia

WPWS

Ventricular Familial Preexcitation Syndrome

Preexcitation Syndrome

Ventricular Preexcitation

Wpw - [Wolff-Parkinson- White] Syndrome

Pre-Excitation Syndrome

Ventricular Septal Defect

Ventricular Septal Defects

Interventricular Septal Defect

Heart Septal Defects, Ventricular

Ventricular Septal Abnormality

Interventricular Septum Defect

Ventricular Septum Defect

Vsd - [Ventricular Septum Defect]

Congenital Ventricular Septal Defect

Single Ventricular Septal Defect

Hypoplastic Left Heart Syndrome

Hlhs

Heart, Hypoplastic Left, Syndrome

Hypoplasia Of The Left Heart

Left Heart Hypoplasia Syndrome

Hlhs - [Hypoplastic Left Heart Syndrome]

Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome

Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome

Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle

Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia

Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome

Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome

Right Atrial Isomerism

Ivemark Syndrome

Asplenia With Cardiovascular Anomalies

RAI

Asplenia Syndrome

Asplenia

Right Isomerism

Splenic Agenesis Syndrome

Bilateral Right-Sidedness Sequence

Right Sided Atrial Isomerism

Isomerism Of Right Atrial Appendage

Heterotaxy, Visceroatrial, Autosomal Recessive

Polyasplenia

Vah, Autosomal Recessive

Atrial Isomerism, Right

Congenital Absence Of Spleen

Bilateral Right-Sidedness

Atrial Heart Septal Defect

Atrial Septal Defect

Atrial Septal Defects

Atrioseptal Defect

Auricular Septal Defect

Congenital Atrial Septal Defect

Interatrial Septal Defect

Interauricular Septal Defect

Heart Septal Defects, Atrial

Septal Defect, Atrial

Catecholaminergic Polymorphic Ventricular Tachycardia

Cpvt

Catecholamine-Induced Polymorphic Ventricular Tachycardia

Familial Polymorphic Ventricular Tachycardia

Malignant Paroxysmal Ventricular Tachycardia

Multifocal Ventricular Premature Beats

Stress-Induced Polymorphic Ventricular Tachycardia

Bidirectional Tachycardia Induced By Catecholamine

Double Tachycardia Induced By Catecholamines

Polymorphic Catecholergic Ventricular Tachycardia

Syncopal Paroxysmal Tachycardia

Bidirectional Tachycardia Induced By Catecholamines

Fpvt

Bidirectional Ventricular Tachycardia Induced By Catecholamine

Polymorphic Ventricular Tachycardia Induced By Catecholamines

Ventricular Tachycardia, Catecholaminergic Polymorphic

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Familial Ventricular Tachycardia

Multifocal Pvcs

Multifocal Premature Ventricular Beats

Lipoprotein Quantitative Trait Locus

Coronary Artery Disease

Coronary Artery Anomaly

Coronary Artery Disease, Susceptibility To

Myocardial Ischemia

Congenital Anomaly Of Coronary Artery

Coronary Arteriosclerosis

Coronary Disease

Coronary Heart Disease

Coronary Artery Disorder

LPAQTL

Lpa Deficiency, Congenital

Coronary Artery Abnormality

Coronary Artery Anomaly, Congenital

Chd

Coronary Syndrome

Congenital Malformations Of Coronary Vessels

Malformation Of Coronary Vessels

Congenital Coronary Artery Anomaly

Congenital Coronary Artery Deformity

Congenital Coronary Artery Disorder

Abnormal Coronary Artery

Congenital Coronary Artery Malposition

Congenital Coronary Disease

Congenital Anomaly Of Coronary Arteries

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy

Left Ventricular Hypertrabeculation

Lvnc

Spongy Myocardium

Isolated Noncompaction Of The Ventricular Myocardium

Left Ventricular Myocardial Noncompaction Cardiomyopathy

Fetal Myocardium

Honeycomb Myocardium

Hypertrabeculation Syndrome

Left Ventricular Non-Compaction

Lvht

Non-Compaction Of The Left Ventricular Myocardium

Ventricular Noncompaction, Left

Non-Compaction Cardiomyopathy

Patent Foramen Ovale

Atrial Septal Defect Within Oval Fossa

Foramen Ovale Patent

Ostium Secundum Atrial Septal Defect

Atrial Septal Defect, Ostium Secundum Type

Foramen Ovale, Patent

Defect, Patent Or Persistent, Ostium Secundum

Ostium Secundum Type Atrial Septal Defect

Persistent Ostium Secundum

Asd Ostium Secundum Type

Ostium Secundum Asd

Osasd

Asd, Ostium Secundum Type

Pfo - [Patent Foramen Ovale]

Open Foramen Ovale

Open Oval Foramen

Persistent Foramen Ovale

Secundum Atrial Septal Defect

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome

Deletion 1p36

Monosomy 1p36

Subtelomeric 1p36 Deletion

Monosomy 1p36 Syndrome

Distal Monosomy 1p36

Del(1)(P36)

Deletion 1pter

Monosomy 1pter

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/Bbb Syndrome

Catch22

Cayler Cardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Sedlackova Syndrome

Shprintzen Syndrome

Velocardiofacial Syndrome

22q11.2 Distal Deletion Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2ds

Vcfs

Velo-Cardio-Facial Syndrome

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

Chromosome 22q11.2 Deletion Syndrome

Deletion 22q11.2 Syndrome

22q11ds

Catch 22

Digeorge Sequence

Microdeletion 22q11.2

Monosomy 22q11

Takao Syndrome

Distal Del(22)(Q11.2)

Distal Monosomy 22q11.2

Catch 22 Syndrome

Chromosome Deletion Syndrome 22q11.2, Distal

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus GJA5 RGD RGD:2692
Felis catus GJA5 VGNC VGNC:62564
Bos taurus GJA5 VGNC VGNC:29374
Macaca mulatta GJA5 VGNC VGNC:73056
Mus musculus GJA5 MGD MGI:95716
Canis familiaris GJA5 VGNC VGNC:41235