1. Gene
  2. KCNQ1 - potassium voltage-gated channel subfamily Q member 1 Gene

KCNQ1 - potassium voltage-gated channel subfamily Q member 1 Gene

中文名称:钾电压门控通道亚家族 Q 成员 1

种属: Homo sapiens

同用名: LQT; RWS; WRS; LQT1; SQT2; ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9; Kv7.1; KVLQT1

基因 ID: 3784 | 基因类型: protein coding

关于 KCNQ1

Cytogenetic location: 11p15.5-p15.4 Genomic coordinates (GRCh38): 11:2,445,008-2,849,110 (from NCBI)

This gene has 7 transcripts (splice variants), 1 gene allele, 132 orthologues, 31 paralogues and is associated with 13 phenotypes. Broad expression in adrenal (RPKM 44.1), thyroid (RPKM 34.9) and 16 other tissues.

功能概要

该基因编码心脏动作电位复极化阶段所需的电压门控钾通道。这种蛋白质可以与其他两种钾通道蛋白 KCNE1 和 KCNE3 形成异源多聚体。该基因的突变与遗传性长 QT 综合征 1 (也称为 Romano-Ward 综合征) 、Jervell 和 Lange-Nielsen 综合征以及家族性房颤有关。该基因表现出组织特异性印记,在某些组织中优先表达母体等位基因,而在其他组织中优先表达双等位基因。该基因位于 11 号染色体的一个区域以及与 Beckwith-Wiedemann 综合征 (BWS) 相关的其他印记基因中,并且其本身已被证明会被 BWS 患者的染色体重排破坏。已发现该基因的可变剪接转录物变体。[RefSeq 提供,2011 年 8 月]

This gene encodes a voltage-gated Potassium Channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other Potassium Channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in Others. This gene is located in a region of chromosome 11 amongst Other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]

KCNQ1 基因产物(6)

mRNA Protein Name
NM_000218.3 NP_000209.2 potassium voltage-gated channel subfamily KQT member 1 isoform 1
NM_001406836.1 NP_001393765.1 potassium voltage-gated channel subfamily KQT member 1 isoform 3
NM_001406837.1 NP_001393766.1 potassium voltage-gated channel subfamily KQT member 1 isoform 4
NM_001406838.1 NP_001393767.1 potassium voltage-gated channel subfamily KQT member 1 isoform 5
NM_001406839.1 NP_001393768.1 potassium voltage-gated channel subfamily KQT member 1 isoform 6
NM_181798.2 NP_861463.1 potassium voltage-gated channel subfamily KQT member 1 isoform 2 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables calmodulin binding IDA
IDA: 通过直接分析推断
18165683 GOA
contributes to delayed rectifier potassium channel activity IDA
IDA: 通过直接分析推断
8900283 GOA
enables delayed rectifier potassium channel activity IDA
IDA: 通过直接分析推断
12522251 GOA
enables outward rectifier potassium channel activity IDA
IDA: 通过直接分析推断
9312006 GOA
enables phosphatidylinositol-4,5-bisphosphate binding IDA
IDA: 通过直接分析推断
25037568 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12324418 GOA
enables protein kinase A catalytic subunit binding IDA
IDA: 通过直接分析推断
11799244 GOA
enables protein kinase A regulatory subunit binding IDA
IDA: 通过直接分析推断
11799244 GOA
enables protein phosphatase 1 binding IDA
IDA: 通过直接分析推断
11799244 GOA
enables scaffold protein binding IPI
IPI: 通过物理相互作用推断
11799244 GOA
enables transmembrane transporter binding IPI
IPI: 通过物理相互作用推断
11101505 GOA
contributes to voltage-gated potassium channel activity IDA
IDA: 通过直接分析推断
12324418 GOA
enables voltage-gated potassium channel activity IDA
IDA: 通过直接分析推断
8900283 GOA
enables voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization IMP
IMP: 通过突变表型推断
12522251 GOA
enables voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization IMP
IMP: 通过突变表型推断
12522251 GOA
enables voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization IMP
IMP: 通过突变表型推断
8528244 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in atrial cardiac muscle cell action potential IMP
IMP: 通过突变表型推断
12522251 GOA
involved in cardiac muscle contraction IMP
IMP: 通过突变表型推断
8528244 GOA
involved in cellular response to cAMP IDA
IDA: 通过直接分析推断
11299204 GOA
involved in cellular response to cAMP IMP
IMP: 通过突变表型推断
18093912 GOA
involved in cellular response to xenobiotic stimulus IDA
IDA: 通过直接分析推断
9108097 GOA
involved in membrane repolarization during action potential IDA
IDA: 通过直接分析推断
8900283 GOA
involved in membrane repolarization during atrial cardiac muscle cell action potential IMP
IMP: 通过突变表型推断
12522251 GOA
involved in membrane repolarization during cardiac muscle cell action potential IMP
IMP: 通过突变表型推断
8528244 GOA
involved in membrane repolarization during ventricular cardiac muscle cell action potential IMP
IMP: 通过突变表型推断
8528244 GOA
involved in negative regulation of delayed rectifier potassium channel activity IDA
IDA: 通过直接分析推断
9305853 GOA
involved in negative regulation of voltage-gated potassium channel activity IDA
IDA: 通过直接分析推断
9305853 GOA
involved in positive regulation of cardiac muscle contraction IMP
IMP: 通过突变表型推断
19646991 GOA
involved in positive regulation of heart rate IMP
IMP: 通过突变表型推断
19646991 GOA
involved in positive regulation of potassium ion transmembrane transport IDA
IDA: 通过直接分析推断
8900283 GOA
involved in potassium ion export across plasma membrane IDA
IDA: 通过直接分析推断
8900283 GOA
involved in potassium ion transmembrane transport IDA
IDA: 通过直接分析推断
9354802 GOA
involved in regulation of atrial cardiac muscle cell membrane repolarization IMP
IMP: 通过突变表型推断
12522251 GOA
involved in regulation of heart rate by cardiac conduction IMP
IMP: 通过突变表型推断
8528244 GOA
involved in regulation of membrane repolarization IDA
IDA: 通过直接分析推断
11299204 GOA
involved in regulation of membrane repolarization IMP
IMP: 通过突变表型推断
8900283 GOA
involved in regulation of ventricular cardiac muscle cell membrane repolarization IMP
IMP: 通过突变表型推断
8528244 GOA
involved in ventricular cardiac muscle cell action potential IMP
IMP: 通过突变表型推断
8528244 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in basolateral plasma membrane IDA
IDA: 通过直接分析推断
21228319 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
25037568 GOA
located in early endosome IDA
IDA: 通过直接分析推断
21957902 GOA
colocalizes with early endosome IMP
IMP: 通过突变表型推断
23529131 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
21228319 GOA
colocalizes with endoplasmic reticulum IPI
IPI: 通过物理相互作用推断
24855057 GOA
located in late endosome IDA
IDA: 通过直接分析推断
21957902 GOA
located in lysosome IDA
IDA: 通过直接分析推断
21957902 GOA
located in membrane raft IDA
IDA: 通过直接分析推断
20533308 GOA
part of monoatomic ion channel complex IPI
IPI: 通过物理相互作用推断
24855057 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
10646604 GOA
part of voltage-gated potassium channel complex IDA
IDA: 通过直接分析推断
16002409 GOA
part of voltage-gated potassium channel complex IPI
IPI: 通过物理相互作用推断
19521339 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

KCNQ1 蛋白结构

Ion_trans

Ion_trans: Ion transport protein (158 - 346)

KCNQ_channel

KCNQ_channel: KCNQ voltage-gated potassium channel (451 - 637)

  • 0
  • 200
  • 400
  • 600
  • 676 a.a.
蛋白主名 其他名称

potassium voltage-gated channel subfamily KQT member 1

IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1

KCNQ1 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
种属内
KCNQ1 P51787 KCNE1 Homo sapiens P15382 19521339
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
Long Qt Syndrome 1

Romano-Ward Syndrome

LQT1

Ward-Romano Syndrome

Rws

Ventricular Fibrillation With Prolonged Qt Interval

Wrs

Long Qt Syndrome 1, Acquired, Susceptibility To

Long Qt Syndrome 1, Acquired

Romano-Ward Long Qt Syndrome

Long Qt Syndrome Type 1

Long Qt Syndrome-1

Acquired Susceptibility To Long Qt Syndrome 1

Qt Syndrome, Long, Type 1

Jervell And Lange-Nielsen Syndrome 1

Jervell And Lange-Nielsen Syndrome

Jervell-Lange Nielsen Syndrome

Prolonged Qt Interval In Ekg And Sudden Death

Cardioauditory Syndrome Of Jervell And Lange-Nielsen

Surdo-Cardiac Syndrome

JLNS1

Deafness, Congenital, And Functional Heart Disease

Jlns

Long Qt Interval-Deafness Syndrome

Jervell And Lange-Nielson Syndrome

Jervell Lange-Nielsen Syndrome

Autosomal Recessive Long Qt Syndrome

Cardio-Auditory-Syncope Syndrome

Long Qt Interval-Hearing Loss Syndrome

Congenital Deafness And Functional Heart Disease

Long Qt Interval-Deafness

Atrial Fibrillation, Familial, 3

ATFB3

Fibrillation, Atrial, Familial, Type 3

Short Qt Syndrome 2

SQT2

Short Qt Syndrome Type 2

Short Qt Syndrome-2

Cardiovascular System Disease

Abnormality Of The Cardiovascular System

Cardiovascular Disease

Disease Of Subdivision Of Hemolymphoid System

Disorder Of Cardiovascular System

Cardiovascular Diseases

Heart Conduction Disease

Conduction Disorder Of The Heart

Heart Rhythm Disease

Familial Long Qt Syndrome

Congenital Long Qt Syndrome

Lqts

Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome

Familial Atrial Fibrillation

Atrial Fibrillation, Familial

Atfb

Atrial Fibrillation Autosomal Dominant

Autosomal Dominant Atrial Fibrillation

Auricular Fibrillation

Atrial Fibrillation

Atrial Fibrillation, Familial, 1

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome

BWS

Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality

Wbs

Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism

Long Qt Syndrome 2

LQT2

Long Qt Syndrome, Acquired, Reduced Susceptibility To

Long Qt Syndrome 1/2

Long Qt Syndrome 2/3

Long Qt Syndrome 2/5

Long Qt Syndrome 2, Acquired, Susceptibility To

Long Qt Syndrome, Acquired, Reduced

Long Qt Syndrome Type 2

Long Qt Syndrome 2/9

Lqt1/2

Lqt2/3

Lqt2/5

Lqt2/9

Susceptibility To Acquired Long Qt Syndrome 2

Long Qt Syndrome-2

Qt Syndrome, Long, Type 2

Long Qt Syndrome 1-2

Long Qt Syndrome 2-3

Long Qt Syndrome 2-5

Long Qt Syndrome 9

Cardiac Conduction Defect

Sudden Cardiac Death

Cardiac Conduction Defect, Susceptibility To

SCD

Cardiac Conduction Abnormality

Death Sudden Cardiac

Cardiac Conduction Disease

Conduction Disorder Of The Heart

Silver-Russell Syndrome 1

Silver-Russell Syndrome

Russell-Silver Syndrome

Silver-Russell Dwarfism

Rss

SRS1

Srs

Silver Russell Dwarfism

Russell Silver Syndrome

Silver Russell Syndrome

Pregnancy Loss, Recurrent 1

Pregnancy Loss, Recurrent, Susceptibility To, 1

Rpl

RPRGL1

Rprgl

Recurrent Miscarriage

Recurrent Spontaneous Abortion

Abortion, Spontaneous, Recurrent

Fetal Loss, Recurrent

Fetal Loss, Recurrent, Susceptibility To

Miscarriage, Recurrent

Embryonic Loss, Recurrent

Stillbirth, Recurrent

Pregnancy Loss, Recurrent, 1

Recurrent Embryonic Loss

Recurrent Fetal Loss

Recurrent Stillbirth

Spontaneous Recurrent Abortion

Miscarriage Recurrent

Pregnancy Loss, Recurrent, Susceptibility To, Type 1

Abortion, Habitual

Familial Short Qt Syndrome

Sqts

Genetic Short Qt Syndrome

Ear Malformation

Cup Ear

Atrial Fibrillation

A-Fib

Fibrillation, Atrial

Af - [Atrial Fibrillation]

Rapid Atrial Fibrillation

A Fib - [Atrial Fibrillation]

Short Qt Syndrome

Sqts

Familial Short Qt Syndrome

Polyhydramnios
Sudden Infant Death Syndrome

SIDS

Sudden Infant Death Syndrome, Susceptibility To

Cot Death

Crib Death

Sudden Death Of Nonspecific Cause In Infancy

Sudden Infant Death

Death, Sudden, Syndrome, Infant

Marfan Syndrome

MFS

Mfs1

Marfan'S Syndrome

Marfan Syndrome Type 1

Marfan Syndrome, Type I

Mass Phenotype

Contractural Arachnodactyly

Mass Syndrome

Octd

Overlap Connective Tissue Disease

Marfanoid Hypermobility Syndrome

Marfan Disease

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

Syncope
Atrioventricular Block

Av Block

Cardiac Arrhythmia, Ankyrin-B-Related

Long Qt Syndrome 4

Ankyrin-B Syndrome

LQT4

Ankyrin-B-Related Cardiac Arrhythmia

Sick Sinus Syndrome With Bradycardia

Arrhythmia, Cardiac, Ankyrin B-Related

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Long Qt Syndrome 13

LQT13

Qt Syndrome, Long, Type 13

Long Qt Syndrome 5

LQT5

Long Qt Syndrome 2/5

Lqt2/5

Susceptibility To Acquired Long Qt Syndrome 5

Long Qt Syndrome-5

Long Qt Syndrome 5, Acquired, Susceptibility To

Qt Syndrome, Long, Type 5

Long Qt Syndrome 2-5

Long Qt Syndrome 3

LQT3

Long Qt Syndrome Type 3

Long Qt Syndrome-3

Qt Syndrome, Long, Type 3

Long Qt Syndrome 6

LQT6

Long Qt Syndrome 3/6

Lqt3/6

Susceptibility To Acquired Long Qt Syndrome 6

Long Qt Syndrome-6

Long Qt Syndrome 6, Acquired, Susceptibility To

Qt Syndrome, Long, Type 6

Long Qt Syndrome 3-6

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

Intrinsic Cardiomyopathy
Timothy Syndrome

Long Qt Syndrome With Syndactyly

TS

Lqt8

Long Qt Syndrome 8

Long Qt Syndrome Type 8

Long Qt Syndrome-Syndactyly Syndrome

Long Qt Syndrome 11

LQT11

Long Qt Syndrome-11

Qt Syndrome, Long, Type 11

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]

Andersen Cardiodysrhythmic Periodic Paralysis

Andersen Syndrome

Andersen-Tawil Syndrome

LQT7

Long Qt Syndrome 7

Ats

Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type

Long Qt Syndrome Type 7

Andersen Tawil Syndrome

Potassium-Sensitive Cardiodysrhythmic Type

Lqts Type 7

Long Qt Syndrome-7

Rare Genetic Deafness

Rare Genetic Hearing Loss

Hypokalemia

Potassium Deficiency

Potassium Deficiency Disorder

Hypopotassemia

Potassium

Potassium [K] Deficiency

Hypokalaemic Syndrome

Hypopotassaemia

Hypopotassaemia Syndrome

Hypokalaemic

Potassium Depletion

Ventricular Fibrillation, Paroxysmal Familial, 1

Paroxysmal Familial Ventricular Fibrillation

Ivf

Ventricular Fibrillation, Idiopathic

Ventricular Fibrillation

VF1

Vf

Ventricular Fibrillation, Familial, 1

Paroxysmal Ventricular Fibrillation

Idiopathic Ventricular Fibrillation

Ventricular Fibrillation, Paroxysmal Familial, Type 1

Ventricular Fibrillation, Paroxysmal Familial

Familial Paroxysmal Ventricular Fibrillation 1

Susceptibility To Ventricular Fibrillation During Myocardial Infarction

Ventricular Fibrillation Adverse Event

Diabetes Mellitus

Diabetes

Long Qt Syndrome 12

LQT12

Qt Syndrome, Long, Type 12

Benign Neonatal Seizures

Benign Neonatal Epilepsy

Benign Familial Neonatal Seizures

Benign Neonatal Convulsions

Benign Familial Neonatal Convulsions

Benign Familial Neonatal Epilepsy

Bfne

Bfns

Seizures, Benign Neonatal

Neonatal Convulsions Benign

Epilepsy, Benign Neonatal

Epilepsy, Benign Neonatal, 2

Benign Familial Convulsion

Familial Benign Neonatal Epilepsy

Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Catecholaminergic Polymorphic Ventricular Tachycardia 4

CPVT4

Bidirectional Tachycardia

Stress-Induced Polymorphic Ventricular Tachycardia

Cvpt4

Double Tachycardia Induced By Catecholamines

Malignant Paroxysmal Ventricular Tachycardia

Multifocal Ventricular Premature Beats

Paroxysmal Ventricular Fibrillation

Syncopal Paroxysmal Tachycardia

Syncopal Tachyarythmia

Vtsip

Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 4

Multifocal Pvcs

Multifocal Premature Ventricular Beats

Paroxysmal Familial Ventricular Fibrillation

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Congestive Heart Failure

Congestive Heart Disease

Heart Failure

Cardiac Failure Congestive

Chf

Weak Heart

Heart Failure Congestive

Ccf - [Congestive Cardiac Failure]

Chf - [Congestive Heart Failure]

Congestive Cardiac Diseases

Congested Heart Failure

Congestive Cardiac Failure

Cardiac Anasarca

Cardiac Oedema

Cardiac Stasis

Cardiovascular Oedema

Cardiac Hydrops

Congestive Failure

Heart Congestion

Heart Fluid

Oedematous Heart

Long Qt Syndrome 9

LQT9

Long Qt Syndrome-9

Qt Syndrome, Long, Type 9

Long Qt Syndrome 14

LQT14

Long Qt Syndrome, Type 14

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

Sinoatrial Node Disease

Sa Node

Sinuatrial Node

Sinus Node Dysfunction

Hypogonadotropic Hypogonadism 4 With Or Without Anosmia

HH4

Kallmann Syndrome 4

Kal4

Hypogonadotropic Hypogonadism, Type 4 With/Without Anosmia

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

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

Benign Familial Neonatal Epilepsy

Familial Neonatal Seizures

Bfns

Benign Familial Neonatal Convulsions

Benign Familial Neonatal Seizures

Epilepsy Benign Neonatal Familial

Familial Benign Neonatal Convulsions

Benign Neonatal Familial Convulsions

Familial Benign Neonatal Epilepsy

Epilepsy, Benign Neonatal, 2

Benign Familial Convulsion

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Omphalocele

Omphalocoele

Congenital Omphalocele

Exomphalos

Exumbilication

Cardiac Arrest

Cardiopulmonary Arrest

Circulatory Arrest

Heart Arrest

Gingival Fibromatosis

Hereditary Gingival Fibromatosis

Hereditary Gingival Hyperplasia

Autosomal Dominant Gingival Fibromatosis

Autosomal Dominant Gingival Hyperplasia

Fibromatosis, Gingival, Hereditary

Fibromatosis, Gingival

Brugada Syndrome 4

BRGDA4

Brugada Syndrome, Type 4

Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

Image Syndrome

IMAGE

Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies

Image Anomaly

Image Association

Fetal Growth Retardation

Pyle Metaphyseal Dysplasia

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Spastic Paraplegia 17, Autosomal Dominant

Silver Syndrome

SPG17

Silver Spastic Paraplegia Syndrome

Spastic Paraplegia With Amyotrophy Of Hands And Feet

Hereditary Spastic Paraplegia 17

Autosomal Dominant Spastic Paraplegia Type 17

Spastic Paraplegia 17

Spastic Paraplegia-Amyotrophy Of Hands And Feet

Autosomal Dominant Spastic Paraplegia 17

Dhmn5b

Distal Hereditary Motor Neuropathy Type 5b

Paraplegia, Spastic, Autosomal Dominant, Type 17

Russell-Silver Syndrome

Neuronopathy, Distal Hereditary Motor, Type Vb

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Noonan Syndrome With Multiple Lentigines

Leopard Syndrome

Multiple Lentigines Syndrome

Moynahan Syndrome

Cardiomyopathic Lentiginosis

Progressive Cardiomyopathic Lentiginosis

Cardio-Cutaneous Syndrome

Lentiginosis Profusa

Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome

Generalized Lentiginosis

Gorlin Syndrome Ii

Lentiginosis Profusa Syndrome

Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation Of Growth, Deafnes

Diffuse Lentiginosis

Nsml

Familial Multiple Lentigines Syndrome

Alopecia-Epilepsy-Intellectual Disability Syndrome, Moynahan Type

Progressive Cardiomyopathic Lentiginosis Syndrome

Alopecia Epilepsy Oligophrenia Syndrome Of Moynahan

Developmental And Epileptic Encephalopathy 14

Malignant Migrating Partial Seizures Of Infancy

Eiee14

Epilepsy Of Infancy With Migrating Focal Seizures

Mmpsi

DEE14

Epileptic Encephalopathy, Early Infantile, 14

Early Infantile Epileptic Encephalopathy 14

Malignant Migrating Partial Epilepsy Of Infancy

Migrating Partial Epilepsy Of Infancy

Migrating Partial Seizures Of Infancy

Mmpei

Mpei

Mpsi

Malignant Migrating Focal Seizures Of Infancy

Migrating Partial Seizures In Infancy

Developmental And Epileptic Encephalopathy, 14

Encephalopathy, Epileptic, Early Infantile, Type 14

Deafness, Autosomal Recessive 98

DFNB98

Autosomal Recessive Nonsyndromic Deafness 98

Autosomal Recessive Deafness 98

Deafness, Autosomal Recessive, 98

Deafness, Autosomal Recessive, Type 98

Hypokalemic Periodic Paralysis, Type 1

Hypokalemic Periodic Paralysis

Hokpp

Hypopp

Westphall Disease

HOKPP1

Familial Hypokalemic Periodic Paralysis

Familial Periodic Paralysis

Westphal Disease

Hypokalemic Periodic Paralysis Type 1

Hypokalemic Familial Periodic Paralysis

Periodic Hypokalemic Paralysis

Periodic Paralysis I

Hypokpp

Primary Hypokalemic Periodic Paralysis

Periodic Paralysis Hypokalemic 1

Paralysis, Hypokalemic, Periodic

Paralysis, Hypokalemic, Periodic, Type 1

Transient Neonatal Diabetes Mellitus

Diabetes Mellitus, Transient Neonatal

Tndm

Chromosome 6-Associated Transient Diabetes Mellitus

Dmtn

Diabetes Mellitus, 6q24-Related Transient Neonatal

Tndm1

Neonatal Diabetes Mellitus, Transient

Tndm -[Transient Neonatal Diabetes Mellitus]

Myocardial Infarction

Heart Attack

Myocardial Infarction, Susceptibility To

Myocardial Infarction 1

Myocardial Infarction, Protection Against

Myocardial Infarction, Decreased Susceptibility To

Myocardial Infarction, Decreased

Myocardial Infarct

MCI1

Premature Myocardial Infarction

Myocardial Infarction, Susceptibility To, Type 1

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

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

Maturity-Onset Diabetes Of The Young

MODY

Maturity Onset Diabetes Mellitus In Young

Mason-Type Diabetes

Mason Type Diabetes

Maturity Onset Diabetes Of The Young

Mody Syndrome

Diabetes Of The Young, Maturity-Onset

Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia

Arvc

Arvd

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Arvc Cardiomyopathy

Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia

Arvd/C

Right Ventricular Dysplasia, Arrhythmogenic

Ventricular Dysplasia, Right, Arrhythmogenic

Cardiomyopathy, Ventricular, Right, Arrhythmogenic

Dysplasia, Arrhythmogenic Right Ventricular

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

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

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

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1

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

Wilms Tumor 1

Nephroblastoma

Wilms Tumor

WT1

Wilms' Tumor

Bilateral Wilms Tumor

Wilms Tumor, Type 1

Wilms Tumor, Somatic

Adult Nephroblastoma

Wt1 Disorder

Renal Embryonic Tumor

Adult Kidney Wilms Tumor

Childhood Kidney Wilms Tumor

Nonanaplastic Kidney Wilms Tumor

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
Bos taurus KCNQ1 VGNC VGNC:106792
Rattus norvegicus KCNQ1 RGD RGD:621503
Canis familiaris KCNQ1 VGNC VGNC:51877
Mus musculus KCNQ1 MGD MGI:108083
Felis catus KCNQ1 VGNC VGNC:82040
Macaca mulatta KCNQ1 VGNC VGNC:82168
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