1. Gene
  2. ACTC1 - actin alpha cardiac muscle 1 Gene

ACTC1 - actin alpha cardiac muscle 1 Gene

中文名称:肌动蛋白 α 心肌 1

种属: Homo sapiens

同用名: ACTC; ASD5; CMD1R; CMH11; LVNC4

基因 ID: 70 | 基因类型: protein coding

关于 ACTC1

Cytogenetic location: 15q14 Genomic coordinates (GRCh38): 15:34,790,230-34,795,549 (from NCBI)

This gene has 6 transcripts (splice variants), 206 orthologues, 26 paralogues and is associated with 8 phenotypes. Restricted expression toward heart (RPKM 1532.4).

功能概要

肌动蛋白是高度保守的蛋白质,参与各种类型的细胞运动。球状肌动蛋白 (G-肌动蛋白) 的聚合导致双链螺旋形式的结构丝 (F-肌动蛋白) 。每个肌动蛋白可以与其他四个肌动蛋白结合。由该基因编码的蛋白质属于肌动蛋白家族,该家族由三个主要的肌动蛋白亚型组成:α、β 和γ。 α 肌动蛋白存在于肌肉组织中,是收缩装置的主要成分。该基因的缺陷与特发性扩张型心肌病 (IDC) 和家族性肥厚型心肌病 (FHC) 有关。[RefSeq 提供,2008 年 7 月]

Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four Others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008]

ACTC1 基因产物(5)

mRNA Protein Name
NM_001406482.1 NP_001393411.1 actin, alpha cardiac muscle 1 isoform 1
NM_001406483.1 NP_001393412.1 actin, alpha cardiac muscle 1 isoform 1
NM_001406484.1 NP_001393413.1 actin, alpha cardiac muscle 1 isoform 2
NM_001406485.1 NP_001393414.1 actin, alpha cardiac muscle 1 isoform 3
NM_005159.5 NP_005150.1 actin, alpha cardiac muscle 1 isoform 1
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 ATP binding IDA
IDA: 通过直接分析推断
16611632 GOA
enables microfilament motor activity IDA
IDA: 通过直接分析推断
16611632 GOA
enables myosin binding IDA
IDA: 通过直接分析推断
19799913 GOA
enables myosin binding IPI
IPI: 通过物理相互作用推断
16611632 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
30021884 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in actin filament-based movement IDA
IDA: 通过直接分析推断
16611632 GOA
involved in actin-myosin filament sliding IMP
IMP: 通过突变表型推断
19799913 GOA
involved in heart contraction IMP
IMP: 通过突变表型推断
9563954 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in actin filament IDA
IDA: 通过直接分析推断
16611632 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
20962418 GOA
located in sarcomere IDA
IDA: 通过直接分析推断
16288873 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

ACTC1 蛋白结构

Actin

Actin: Actin (5 - 377)

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

actin, alpha cardiac muscle 1

关联疾病

疾病名称 别名
Atrial Septal Defect 5

ASD5

Atrial Heart Septal Defect 5

Septal Defect, Atrial, Type 5

Cardiomyopathy, Familial Hypertrophic, 11

Hypertrophic Cardiomyopathy 11

CMH11

Cardiomyopathy, Hypertrophic, 11

Cardiomyopathy Familial Hypertrophic 11

Cardiomyopathy, Familial Hypertrophic 11

Cardiomyopathy, Hypertrophic, Familial, Type 11

Cardiomyopathy, Dilated, 1r

Left Ventricular Noncompaction 4

CMD1R

Dilated Cardiomyopathy 1r

Cardiomyopathy, Dilated 1r

Cardiomyopathy, Dilated, Type 1r

Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy

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

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

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

Myoepithelioma

Benign Myoepithelioma

Myoepithelial Adenoma

Myoepithelial Neoplasm

Malignant Myoepithelioma

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

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

Glomus Tumor

Glomus Neoplasm

Glomus Tumour

Leiomyosarcoma

Leiomyosarcomas

Fasciitis
Leiomyoma

Leiomyomatous Neoplasm

Leiomyomatous Tumor

Leiomyomas

Fibroid Tumor

Uterine Fibroids

Fibroma
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

Angiomyolipoma

Angiomyolipoma Of Kidney

Dermatofibrosarcoma Protuberans

DFSP

Dermatofibrosarcoma

Giant Cell Fibroblastoma

Metastatic Dermatofibrosarcoma Protuberans

Familial Dermatofibrosarcoma Protuberans

Darier-Ferrand Tumor

Darier-Hoffmann Tumor

Fibrous Histiocytoma

Benign Fibrous Histiocytoma

Histiocytoma, Benign Fibrous

Fibroxanthoma

Histiocytoma Fibrous

Pseudosarcomatous Fibromatosis

Nodular Fasciitis

Pseudosarcomatous Fasciitis

Fasciitis - Nodular

Fasciitis Nodular

Angiolipoma
Malignant Fibrous Histiocytoma

Undifferentiated Pleomorphic Sarcoma

Ups

Histiocytoma, Malignant Fibrous

Fibroxanthosarcoma

Mfh

Malignant Fibrohistiocytic Tumors

Histiocytoma, Fibrous, Malignant

Hemangiopericytoma, Malignant

Hemangiopericytoma

Haemangiopericytic Meningioma

Malignant Hemangiopericytoma

Solitary Fibrous Tumor

Smooth Muscle Tumor
Lymphangiectasis

Lymphangiectasia

Pyogenic Granuloma

Lobular Capillary Hemangioma

Granuloma Pyogenic

Granuloma Pyogenicum

Granuloma Telangiectaticum Of Skin

Pyogenic Granuloma Of Skin

Lobular Capillary Haemangioma Of Skin

Spindle Cell Sarcoma

Sarcoma

Sarcoma Spindle Cell

Sarcoma, Spindle Cell

Sarcoma - Category

Fibromatosis
Pleomorphic Adenoma

Mixed Tumor Of The Salivary Gland

Adenoma Pleomorphic

Adenoma, Pleomorphic

Mixed Salivary Gland Tumor

Mixed Tumor, Not Otherwise Specified

Epithelioid Leiomyosarcoma

Leiomyosarcoma Epithelioid

Leiomyosarcoma, Epithelioid

Gastrointestinal Stromal Tumor

GIST

Gastrointestinal Stromal Tumors

Gastrointestinal Stromal Sarcoma

Gastrointestinal Stromal Tumor, Familial

Gant

Gastrointestinal Stromal Tumour

Stromal Tumor Of Gastrointestinal Tract

Stromal Tumour Of Gastrointestinal Tract

Gastrointestinal Stromal Neoplasm

Paraganglioma And Gastric Stromal Sarcoma

Plexosarcoma

Cutaneous Fibrous Histiocytoma

Dermatofibroma

Fibrohistiocytic Tumor

Benign Cutaneous Fibrous Histiocytoma

Fibrous Histiocytoma Of Skin

Fibrous Xanthoma Of Skin

Pleomorphic Fibroma

Sclerosing Angioma

Sclerosing Angioma Of Skin

Fibrous Histiocytoma

Carcinosarcoma

Mixed Tumor, Mullerian

Malignant Mixed Mesodermal Tumor

Malignant Mixed Mullerian Tumor

Mmmt

Mixed Tumor, Mesodermal

Mesodermal Mixed Tumor

Mixed Mesodermal Tumor

Mullerian Mixed Tumor

Mixed Mullerian Tumor

Malignant Mixed Müllerian Tumor

Mixed Müllerian Tumor

Mixed Tumor Mullerian

Mixed Tumor, Not Otherwise Specified

Teratoma

Teratomas

Infantile Myofibromatosis

Lipofibromatosis

Myofibromatosis

Malignant Peripheral Nerve Sheath Tumor

Mpnst

Malignant Neurilemmoma

Neurofibrosarcoma

Malignant Neurofibroma

Malignant Schwannoma

Neurogenic Sarcoma

Schwannoma, Malignant

Malignant Neoplasm Of The Peripheral Nerve Sheath

Malignant Peripheral Nerve Sheath Tumors

Perineurioma

Soft Tissue Perineurioma

Uterus Leiomyosarcoma

Leiomyosarcoma Of Uterus

Leiomyosarcoma Of Corpus Uteri

Leiomyosarcoma Of The Corpus Uteri

Uterine Leiomyosarcoma

Fibrosarcoma

Neoplasms, Fibrous Tissue

Fibrocytic Tumor

Fibrosarcoma Of Soft Tissue

Fibrous Tissue Neoplasm

Hemangioma

Hemangiomas

Dextrocardia

Heart Predominantly In Right Hemithorax

Heart In Right Chest

Right-Sided Heart

Congenital Dextrocardia Of Heart

Transposition Of Heart

Abcd Syndrome

ABCDS

Albinism, Black Lock, Cell Migration Disorder Of The Neurocytes Of The Gut, And Deafness

Albinism, Black Lock, Cell Migration Disorder Of The Neurocytes Of The Gut And Deafness

Endometrial Stromal Sarcoma

Ess

Endometrial Stromal Sarcoma, High Grade

Undifferentiated Endometrial Sarcoma

Stromal Sarcoma Of The Corpus Uteri

Sarcoma Endometrial Stromal

Sarcoma, Endometrial Stromal

Undifferentiated Stromal Sarcoma

Rhabdomyosarcoma
Adenofibroma
Neurilemmoma

Schwannoma

Benign Schwannoma

Neurilemoma

Peripheral Fibroblastoma

Psammomatous Schwannoma

Neurolemmoma

Schwannomas

Desmoid Tumor

Aggressive Fibromatosis

Desmoid Type Fibromatosis

Familial Infiltrative Fibromatosis

Desmoid Disorder, Hereditary

Fif

Fibromatosis, Familial Infiltrative

Deep Fibromatosis

Desmoid Fibromatosis

Hereditary Desmoid Disease

Musculoaponeurotic Fibromatosis

Desmoid-Type Fibromatosis

Fibromatosis, Aggressive

Desmoid Disease, Hereditary

Musculo-Aponeurotic Fibromatosis

Rhabdoid Cancer

Rhabdoid Tumor

Malignant Rhabdoid Tumor

Malignant Rhabdoid Tumour

Rhabdoid Sarcoma

Rhabdoid Tumor Predisposition Syndrome 1

Rhabdoid Tumor Predisposition Syndrome 2

Atypical Teratoid Rhabdoid Tumor

Brain Tumor, Posterior Fossa, Of Infancy, Familial

Atypical Teratoid/Rhabdoid Tumor

Myoma

Muscle Benign Neoplasm

Myomatous Neoplasm

Neoplasms, Muscle Tissue

Benign Neoplasm Of The Muscle

Muscle Neoplasm

Muscle Tissue Neoplasm

Myomatous Tumor

Neoplasm Of Muscle

Muscle Neoplasms

Myomas

Sarcoma

Connective And Soft Tissue Neoplasm

Tumor Of Soft Tissue And Skeleton

Sarcomas

Sarcoma - Category

Adenoid Cystic Carcinoma

Adenocystic Carcinoma

Cribriform Carcinoma

Cylindroma

Carcinoma Adenoid Cystic

Carcinoma, Adenoid Cystic

Adenoid Cystic Carcinoma Of Salivary Gland

Eccrine Dermal Cylindroma

Carcinoma, Cribriform

Lymphangioma

Lymphatic Malformation

Lymphatic Malformations

Benign Lymphangioma

Congenital Lymphangioma

Lymphangiomas

Mucoepidermoid Carcinoma

Mec

Salivary Gland Mucoepidermoid Carcinoma

C3772

Carcinoma Mucoepidermoid

Carcinoma, Mucoepidermoid

Chondroma

Central Chondroma

Enchondroma

Breast Myoepithelial Carcinoma
Papilloma

Papillomatosis

Embryonal Rhabdomyosarcoma

Rhabdomyosarcoma, Embryonal

Rhabdomyosarcoma Embryonal

Botryoid Rhabdomyosarcoma

Erms

Spindle Cell Rhabdomyosarcomas

Dedifferentiated Liposarcoma

Ddls

Liposarcoma Dedifferentiated

Liposarcoma, Dedifferentiated

Pulmonary Blastoma

Blastoma Of Lung

Pneumoblastoma

Nephroma

Benign Nephroma

Pneumothorax

Pneumothorax Nos

Air Leak Nos

Pleural Air Leak Nos

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

Somatostatinoma

Somatostatin Cell Neoplasm

Somatostatin Cell Tumour

Ampullary Somatostatinoma

Carcinoid Somatostatinoma

Malignant Islet Cell Tumor

Somatomedin-Secreting Carcinoid

Somatostatin-Secreting Pancreatic Neoplasm

Pancreatic Somatostatinoma

Pancreatic Endocrine Carcinoma

Angiosarcoma

Hemangiosarcoma

Leiomyomatosis
Cystadenocarcinoma
Benign Giant Cell Tumor

Giant Cell Tumors

Mesenchymal Chondrosarcoma

Chondrosarcoma, Mesenchymal

Chondrosarcoma Mesenchymal

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

Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy

Cardiomyopathy, Restrictive

Cardiomyopathy, Constrictive

Primary Restrictive Cardiomyopathy

Rcm

Cardiomyopathy Restrictive

Endomyocardial Fibrosis

Becker'S Disease

Obscure African Cardiomyopathy

African Endomyocardial Fibrosis

Endomyocardial Sclerosis

EMF

Becker Muscular Dystrophy

Intrinsic Cardiomyopathy
Polycystic Liver Disease 1 With Or Without Kidney Cysts

Polycystic Liver Disease 1

PCLD1

Cyst

Liver Disease, Polycystic, Type 1

Polycystic Liver Disease

Baraitser-Winter Syndrome

Fryns-Aftimos Syndrome

Brws

Cerebro-Frontofacial Syndrome, Type 3

Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation

Iris Coloboma With Ptosis Hypertelorism And Intellectual Disability

Trigonocephaly Ptosis Coloboma

Trigonocephaly Ptosis Intellectual Disability

Cerebrofrontofacial Syndrome Type 3

Endocardial Fibroelastosis

Endomyocardial Fibroelastosis

Elastomyofibrosis

EFE

Efe - [Endocardial Fibroelastosis]

Primary Endocardial Fibroelastosis

Fibroelastosis Cordis

Fetal Endocarditis

Fibroelastosis

Congenital Endocardial Fibroelastosis

Congenital Valvular Endocarditis

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

Heart Septal Defect

Septal Defect

Heart Septal Defects

Cardiac Septal Defects

Congenital Septal Defect Of Heart

Achalasia

Cardiospasm

Achalasia Of Cardia

Esophageal Achalasia

Hypertensive Lower Esophageal Sphincter

Idiopathic Achalasia

Achalasia Cardia

Idiopathic Achalasia Of Esophagus

Primary Achalasia

Achalasia Of Esophagus

Lack Of Reflex Relaxation Of Lower Oesophageal Sphincter

Aperistalsis Of The Oesophagus

Achalasia Of Oesophagus

Oesophageal Achalasia

Achalasia Nos

Cardia Spasm

Cardia Achalasia

Oesophageal Cardiospasm

Oesophagus Achalasia

Reflex Cardiospasm

Gliosarcoma

Glioblastoma With Sarcomatous Component

Sarcomatous Glioblastoma

Barth Syndrome

3-Methylglutaconic Aciduria Type 2

BTHS

Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria

Mga Type Ii

Mga2

Mgca2

Mga Type 2

3-Methylglutaconic Aciduria Type Ii

3-Methylglutaconic Aciduria, Type Ii

Mga, Type Ii

3-Methylglutaconicaciduria Type 2

3-Methylglutaconicaciduria Type Ii

Taz Defect

3 Methylglutaconic Aciduria, Type Ii

Dnajc19 Defect

Cardioskeletal Myopathy-Neutropenia Syndrome

X-Linked Cardioskeletal Myopathy And Neutropenia

3-Alpha-Methylglutaconic Aciduria Type 2

Agm2

Cardioskeletal Myopathy-Neutropenia

Invm

Left Ventricular Non-Compaction Isolated X-Linked

Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked

Agammaglobulinemia 2, Autosomal Recessive

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

Myopathy

Muscular Diseases

Myopathies

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Berdon Syndrome

MMIHS

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Megacystis, Microcolon, Hypoperistalsis Syndrome

Visceral Myopathy

Mmih Syndrome

Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome

MMIHS1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih

Mmhs

Microphthalmia

Microphthalmos

Isolated Anophthalmia-Microphthalmia Syndrome

Isolated Microphthalmia-Anophthalmia-Coloboma

Simple Microphthalmos

Clinical Anophthalmia

Isolated Anophthalmia - Microphthalmia

Isolated Pure Microphthalmia

Mac Spectrum

Microphthalmia-Anophthalmia-Coloboma Spectrum

Primitive Anophthalmia

Globe Of Eye Small

Small Eyeball

Hypoplasia Of Eye

Isolated Nanophthalmos

Rudimentary Eye

Dysplasia Of Eye

Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Medulloblastoma Predisposition Syndrome

Medulloblastoma, Somatic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Neuroectodermal Tumors, Primitive

Medulloblastomas

Desmoplastic Medulloblastoma

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site

Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion

Cftdm

Congenital Myopathy With Fiber Type Disproportion

Cftd

Congenital Fiber-Type Disproportion Myopathy

Fiber-Type Disproportion Myopathy, Congenital

Myopathy, Congenital With Fiber-Type Disproportion

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

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

Patent Ductus Arteriosus 1

Patent Ductus Arteriosus

PDA1

Pda

Ductus Arteriosus, Patent

Patent Ductus Arteriosus, Susceptibility To

Patent Ductus Botalli

Patency Of The Ductus Arteriosus

Patent Ductus Arteriosus Familial

Ductus Arteriosus Patent

Patent Ductus Arteriosus - Persisting Type

Interstitial Lung Disease 2

Idiopathic Pulmonary Fibrosis

Ipf

Fibrocystic Pulmonary Dysplasia

Pulmonary Fibrosis, Idiopathic

Pulmonary Fibrosis, Idiopathic, Susceptibility To

Cryptogenic Fibrosing Alveolitis

ILD2

Idiopathic Pulmonary Fibrosis, Familial

Fibrosing Alveolitis, Cryptogenic

Uip

Fibrosing Alveolitis

Interstitial Pneumonitis, Usual

Familial Idiopathic Pulmonary Fibrosis

Idiopathic Fibrosing Alveolitis, Chronic Form

Usual Interstitial Pneumonia

Fibrosing Alveolitis Cryptogenic

Hamman-Rich Disease

Idiopathic Pulmonary Fibrosis Familial

Interstitial Pneumonitis Usual

Fibrosis Idiopathic Pulmonary

Fibrosis, Pulmonary, Idiopathic

Hamman-Rich Syndrome

Chronic Idiopathic Pulmonary Fibrosis

Acute Interstitial Pneumonia

Interstitial Pulmonary Fibrosis

Ipf - [Idiopathic Pulmonary Fibrosis]

Idiopathic Lung Fibrosis

Fibrosing Lung Disease

Pulmonary Fibrosis Nos

Fibrosing Pneumonitis

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

Basal Cell Carcinoma

Basal Cell Cancer

Basal Cell Neoplasm

Basal Cell Carcinoma Of Skin

Malignant Basal Cell Tumor

Basal Cell Tumor

Epithelioma Basal Cell

Malignant Basal Cell Neoplasm

Rodent Ulcer

Carcinoma Basal Cell

Neoplasms, Basal Cell

Basal Cell Carcinomas

Experimental Organism Basal Cell Carcinoma

Nodulo-Ulcerative Basal Cell Carcinoma

Basalioma

Basal Cell Epithelioma Of Skin

Bcc - [Basal Cell Carcinoma] Of Skin

Rodent Ulcer Of Skin

Rodent Ulcer Of Unspecified Site

Basal Cell Epithelioma Of Unspecified Site

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]

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]

Aortic Aneurysm, Familial Thoracic 1

Thoracic Aortic Aneurysm

Annuloaortic Ectasia

Familial Thoracic Aortic Aneurysm And Aortic Dissection

Familial Aortic Dissection

Familial Taad

Familial Thoracic Aortic Aneurysm

Congenital Aneurysm Of Ascending Aorta

Familial Aortic Aneurysm

Familial Thoracic Aortic Aneurysm And Dissection

Aortic Aneurysm, Thoracic

AAT1

Faa1

Aortic Dissection, Familial

Aortic Aneurysm, Familial Thoracic

Aneurysm, Thoracic Aortic

Faa

Ftaad

Taa

Taad

Cystic Medial Necrosis Of Aorta

Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection

Aortic Aneurysm Thoracic

Familial Aortic Aneurysms

Aneurysm, Aortic, Thoracic, Familial, Type 1

Aneurysm Of Thoracic Aorta

Intrathoracic Aneurysm

Thoracic Aorta Aneurysm

Thoracic Aortic Aneurysm Without Rupture

Thoracic Aneurysm

Thorax Arterial Aneurysm

Thoracic Artery Aneurysm

Thoracic Arterial Aneurysm

Thorax Aneurysm

Thorax Aortic Aneurysm

Dissection Of Thoracic Aorta

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
Felis catus ACTC1 VGNC VGNC:59543
Bos taurus ACTC1 VGNC VGNC:25574
Mus musculus ACTC1 MGD MGI:87905
Canis familiaris ACTC1 VGNC VGNC:37540
Rattus norvegicus ACTC1 RGD RGD:2026
Macaca mulatta ACTC1 VGNC VGNC:69395