ACTB - actin beta Gene

Also Known as BRWS1; PS1TP5BP1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 60

About ACTB

Cytogenetic location: 7p22.1 Genomic coordinates (GRCh38): 7:5,527,148-5,530,601 (from NCBI)

This gene has 23 transcripts (splice variants), 263 orthologues, 26 paralogues and is associated with 8 phenotypes. Ubiquitous expression in appendix (RPKM 2395.4), lymph node (RPKM 2072.0) and 24 other tissues.

Summary

This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017]

ACTB Products (1)

mRNA	Protein	Name
NM_001101.5	NP_001092.1	actin, cytoplasmic 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATP hydrolysis activity	IDA IDA: Inferred from direct assay	25255767	GOA
enables Tat protein binding	IPI IPI: Inferred from physical interaction	16687403	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables kinesin binding	IPI IPI: Inferred from physical interaction	18680169	GOA
enables nitric-oxide synthase binding	IPI IPI: Inferred from physical interaction	17502619	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11687588	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	24327345	GOA
enables structural constituent of postsynaptic actin cytoskeleton	EXP EXP: Inferred from Experiment	18341992	GOA
enables structural constituent of postsynaptic actin cytoskeleton	IDA IDA: Inferred from direct assay	18341992	GOA
enables structural constituent of postsynaptic actin cytoskeleton	IMP IMP: Inferred from mutant phenotype	18341992	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in adherens junction assembly	IMP IMP: Inferred from mutant phenotype	22855531	GOA
involved in apical protein localization	IMP IMP: Inferred from mutant phenotype	22855531	GOA
involved in cell motility	IMP IMP: Inferred from mutant phenotype	6202424	GOA
involved in cellular response to cytochalasin B	IMP IMP: Inferred from mutant phenotype	6202424	GOA
involved in establishment or maintenance of cell polarity	IMP IMP: Inferred from mutant phenotype	22855531	GOA
involved in morphogenesis of a polarized epithelium	IMP IMP: Inferred from mutant phenotype	22855531	GOA
involved in positive regulation of double-strand break repair via homologous recombination	IDA IDA: Inferred from direct assay	27153538	GOA
involved in protein localization to adherens junction	IMP IMP: Inferred from mutant phenotype	22855531	GOA
involved in regulation of cell cycle	IMP IMP: Inferred from mutant phenotype	27153538	GOA
involved in regulation of norepinephrine uptake	IGI IGI: Inferred from genetic interaction	18331289	GOA
involved in regulation of protein localization to plasma membrane	IMP IMP: Inferred from mutant phenotype	18331289	GOA
involved in regulation of transepithelial transport	IMP IMP: Inferred from mutant phenotype	22855531	GOA
involved in regulation of transmembrane transporter activity	IGI IGI: Inferred from genetic interaction	18331289	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of NuA4 histone acetyltransferase complex	IDA IDA: Inferred from direct assay	10966108	GOA
located in actin cytoskeleton	IDA IDA: Inferred from direct assay	11687588	GOA
located in adherens junction	IDA IDA: Inferred from direct assay	22855531	GOA
located in apical junction complex	IDA IDA: Inferred from direct assay	22855531	GOA
located in cell-cell junction	IMP IMP: Inferred from mutant phenotype	25753039	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	24327345	GOA
located in cytoplasmic ribonucleoprotein granule	IDA IDA: Inferred from direct assay	15121898	GOA
located in cytoskeleton	IDA IDA: Inferred from direct assay	24327345	GOA
is active in glutamatergic synapse	EXP EXP: Inferred from Experiment	18341992	GOA
is active in glutamatergic synapse	IDA IDA: Inferred from direct assay	18341992	GOA
is active in glutamatergic synapse	IMP IMP: Inferred from mutant phenotype	18341992	GOA
located in lamellipodium	IDA IDA: Inferred from direct assay	24415753	GOA
part of nucleosome	IDA IDA: Inferred from direct assay	27153538	GOA
located in nucleus	IDA IDA: Inferred from direct assay	11687588	GOA
is active in postsynaptic actin cytoskeleton	IDA IDA: Inferred from direct assay	18341992	GOA
is active in postsynaptic actin cytoskeleton	IMP IMP: Inferred from mutant phenotype	18341992	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	11687588	GOA
part of ribonucleoprotein complex	IDA IDA: Inferred from direct assay	17289661	GOA
located in tight junction	IDA IDA: Inferred from direct assay	22855531	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACTB Protein Structure

Actin

0
100
200
300
375 a.a.

Protein Preferred Names	Protein Names
actin, cytoplasmic 1	I(2)-actin

ACTB Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ACTB	P60709	UBE2I	Homo sapiens	Q7KZS0	Y2H Prey Pooling	32296183
Intra	ACTB	P60709	UBE2I	Homo sapiens	Q7KZS0	Validated Y2H	32296183
Intra	ACTB	P60709	UBE2I	Homo sapiens	Q7KZS0	Y2H Array	32296183
Intra	ACTB	P60709	CFL2	Homo sapiens	Q549N0	Y2H Array	25416956
Intra	ACTB	P60709	CAP2	Homo sapiens	P40123	SLC	25910212
Intra	ACTB	P60709	CAP2	Homo sapiens	P40123	Anti Tag CoIP	33961781
Intra	ACTB	P60709	CAP2	Homo sapiens	P40123	Y2H Array	25910212
Intra	ACTB	P60709	CAP2	Homo sapiens	P40123	Anti Tag CoIP	35271311
Intra	ACTB	P60709	CAP2	Homo sapiens	P40123	Y2H Bait-Prey Pool	25910212
Intra	ACTB	P60709	CAP2	Homo sapiens	P40123	Validated Y2H	25910212
Intra	ACTB	P60709	MYL12B	Homo sapiens	O14950	Anti Bait CoIP	19328794
Intra	ACTB	P60709	MYL12B	Homo sapiens	O14950	Confocal	19328794
Intra	ACTB	P60709	EHHADH	Homo sapiens	Q08426	Y2H Array	31515488
Intra	ACTB	P60709	EHHADH	Homo sapiens	Q08426	Validated Y2H	32296183
Intra	ACTB	P60709	RNF4	Homo sapiens	P78317	Y2H Prey Pooling	32296183
Intra	ACTB	P60709	RNF4	Homo sapiens	P78317	Validated Y2H	32296183
Intra	ACTB	P60709	RNF4	Homo sapiens	P78317	Y2H Array	32296183
Intra	ACTB	P60709	HTRA3	Homo sapiens	P83110	Confocal	29477555
Intra	ACTB	P60709	NSMAF	Homo sapiens	Q92636	Anti Bait CoIP	17599063
Intra	ACTB	P60709	CDC37	Homo sapiens	Q16543	Validated Y2H	32296183
Intra	ACTB	P60709	YWHAZ	Homo sapiens	P63104	Pull Down	15161933
Intra	ACTB	P60709	CFL2	Homo sapiens	Q9Y281	Anti Tag CoIP	35271311
Intra	ACTB	P60709	CFL2	Homo sapiens	Q9Y281	Y2H Prey Pooling	32296183
Intra	ACTB	P60709	CFL2	Homo sapiens	Q9Y281	Validated Y2H	25910212
Intra	ACTB	P60709	CFL2	Homo sapiens	Q9Y281	Validated Y2H	32296183
Intra	ACTB	P60709	CFL2	Homo sapiens	Q9Y281	Y2H Array	25910212
Intra	ACTB	P60709	CFL2	Homo sapiens	Q9Y281	Y2H Array	32296183
Intra	ACTB	P60709	CFL2	Homo sapiens	Q9Y281	Y2H Bait-Prey Pool	25910212
Intra	ACTB	P60709	ACTG1	Homo sapiens	P63261	Validated Y2H	25416956
Intra	ACTB	P60709	ACTG1	Homo sapiens	P63261	Validated Y2H	32296183
Intra	ACTB	P60709	ACTG1	Homo sapiens	P63261	Y2H Array	32296183
Intra	ACTB	P60709	ACTG1	Homo sapiens	P63261	Y2H Array	30886144
Intra	ACTB	P60709	ACTG1	Homo sapiens	P63261	Y2H Prey Pooling	32296183
Intra	ACTB	P60709	ACTG1	Homo sapiens	P63261	Y2H	21516116
Intra	ACTB	P60709	HSPA8	Homo sapiens	P11142	GMS	15047060
Intra	ACTB	P60709	HSPA8	Homo sapiens	P11142	Y2H	19338310
Intra	ACTB	P60709	WDR1	Homo sapiens	O75083	Anti Tag CoIP	35271311
Intra	ACTB	P60709	CFL1	Homo sapiens	P23528	Anti Tag CoIP	35271311
Intra	ACTB	P60709	CFL1	Homo sapiens	P23528	Anti Tag CoIP	33961781
Intra	ACTB	P60709	CFL1	Homo sapiens	P23528	Y2H Array	25416956
Intra	ACTB	P60709	ACTB	Homo sapiens	P60709	Y2H Array	32296183
Intra	ACTB	P60709	ACTB	Homo sapiens	P60709	Y2H	21516116
Intra	ACTB	P60709	ACTB	Homo sapiens	P60709	Y2H Array	29892012
Intra	ACTB	P60709	ACTB	Homo sapiens	P60709	Y2H Pooling	16189514
Intra	ACTB	P60709	ACTB	Homo sapiens	P60709	3D-EM	18234857
Intra	ACTB	P60709	ACTB	Homo sapiens	P60709	Validated Y2H	25910212
Intra	ACTB	P60709	ACTB	Homo sapiens	P60709	Y2H Array	31515488
Intra	ACTB	P60709	ACTB	Homo sapiens	P60709	Solution Sedimentation	19000816
Intra	ACTB	P60709	ACTB	Homo sapiens	P60709	Y2H Bait-Prey Pool	25910212
Intra	ACTB	P60709	ACTB	Homo sapiens	P60709	Y2H Array	25910212
Intra	ACTB	P60709	ACTB	Homo sapiens	P60709	Y2H Prey Pooling	32296183
Intra	ACTB	P60709	ACTB	Homo sapiens	P60709	TEM	17404223
Intra	ACTB	P60709	ACTB	Homo sapiens	P60709	Validated Y2H	32296183
Intra	ACTB	P60709	ACTB	Homo sapiens	P60709	Y2H Array	25416956
Intra	ACTB	P60709	ACTB	Homo sapiens	P60709	Y2H Array	25502805
Intra	ACTB	P60709	ACTB	Homo sapiens	P60709	EM	20383143
Intra	ACTB	P60709	NCF1	Homo sapiens	P14598	Filter Binding	16375898
Intra	ACTB	P60709	EMD	Homo sapiens	P50402	Pull Down	15328537
Intra	ACTB	P60709	EMD	Homo sapiens	P50402	Anti Bait CoIP	15328537
Intra	ACTB	P60709	BAIAP2	Homo sapiens	Q9UQB8	Anti Tag CoIP	35271311
Intra	ACTB	P60709	FBXO25	Homo sapiens	Q8TCJ0-2	Y2H	20473970
Intra	ACTB	P60709	ERBB2	Homo sapiens	P04626	Anti Bait CoIP	21555369
Intra	ACTB	P60709	ERBB2	Homo sapiens	P04626	Confocal	21555369
Intra	ACTB	P60709	PFN1	Homo sapiens	P07737	Solution Sedimentation	19000816
Intra	ACTB	P60709	PFN1	Homo sapiens	P07737	Anti Tag CoIP	35271311
Intra	ACTB	P60709	TINF2	Homo sapiens	Q9BSI4	Pull Down	21044950
Intra	ACTB	P60709	NTAQ1	Homo sapiens	Q96HA8	Y2H Array	25416956
Intra	ACTB	P60709	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	25416956
Intra	ACTB	P60709	NTAQ1	Homo sapiens	Q96HA8	Y2H Array	31515488
Intra	ACTB	P60709	NTAQ1	Homo sapiens	Q96HA8	Y2H Prey Pooling	25416956
Intra	ACTB	P60709	DSTN	Homo sapiens	P60981	Anti Tag CoIP	35271311
Intra	ACTB	P60709	DSTN	Homo sapiens	P60981	Validated Y2H	32296183
Intra	ACTB	P60709	DSTN	Homo sapiens	P60981	Y2H Array	25416956
Cross	ACTB	P60709	Mrtfa	Mus musculus	Q8K4J6	Pull Down	19008859
Intra	ACTB	P60709	DUSP19	Homo sapiens	Q8WTR2	Y2H Prey Pooling	32296183
Intra	ACTB	P60709	DUSP19	Homo sapiens	Q8WTR2	Validated Y2H	32296183
Intra	ACTB	P60709	DUSP19	Homo sapiens	Q8WTR2	Y2H Array	32296183
Cross	ACTB	P60709	Camk2b	Rattus norvegicus	P08413	Solution Sedimentation	17404223
Cross	ACTB	P60709	Camk2b	Rattus norvegicus	P08413	TEM	17404223

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ACTB Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7453	ACTB Protein, Human (His)	P60709 (D2-F375)	≥ 90%, as determined by reducing SDS-PAGE.

ACTB Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80438	Beta Actin Antibody (YA823)	WB, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P80993	Beta Actin Antibody (HRP)(YA4634)	WB	Human, Mouse, Rat, Zebrafish, Monkey, Hamster, Plant
HY-P83730	Beta Actin Antibody(YA3459)	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Dystonia, Juvenile-Onset	Juvenile-Onset Dystonia Developmental Malformations-Deafness-Dystonia Syndrome DJO Developmental Malformations-Hearing Loss-Dystonia Syndrome Developmental Malformations-Deafness-Dystonia
Baraitser-Winter Syndrome 1	Fryns-Aftimos Syndrome Cerebrooculofacial Lymphatic Syndrome Cerebrofrontofacial Syndrome BRWS1 Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation Cofls Chromosome 7p22 Deletion Syndrome Pachygyria, Mental Retardation, Epilepsy, And Characteristic Facies Mental Retardation With Epilepsy And Characteristic Facies Baraitser-Winter Syndrome, Type 1
Becker Nevus Syndrome	Becker'S Nevus Hairy Epidermal Nevus Syndrome Pigmentary Hairy Epidermal Nevus Pigmented Hairy Epidermal Nevus Becker'S Melanosis
Baraitser-Winter Cerebrofrontofacial Syndrome
Congenital Smooth Muscle Hamartoma	Congenital Erector Pili Hamartoma
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
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Congenital Ptosis	Congenital Blepharoptosis Congenital Eyelid Ptosis
Subacute Glomerulonephritis
Pericytoma With T(7;12)
Bile Duct Cancer	Bile Duct Carcinoma Extrahepatic Bile Duct Carcinoma Carcinoma Of Extrahepatic Bile Duct Extrahepatic Bile Duct Cancer Bile Duct Neoplasms Bile Duct Tumor Ca Extrahepatic Bile Ducts Malignant Neoplasm Of The Extrahepatic Bile Duct Bile Duct Extrahepatic Carcinoma Malignant Tumor Of Extrahepatic Bile Duct
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
Tongue Carcinoma	Tongue Cancer Malignant Neoplasm Of Tongue Tongue Neoplasms Tongue Neoplasm
Angelman Syndrome	AS Happy Puppet Syndrome Happy Puppet Syndrome, Formerly Puppetlike Syndrome
Myocarditis	Myocardial Inflammation Inflammatory Cardiomyopathy
Lissencephaly	Pachygyria Broad Gyri Of Cerebrum Large Gyri Of Cerebrum Macrogyria
Ovarian Disease	Ovarian Dysfunction Ovarian Diseases Ovarian Disorders Disorder Of Endocrine Ovary
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Ciliary Dyskinesia, Primary, 14	Primary Ciliary Dyskinesia 14 CILD14 Primary Ciliary Dyskinesia 14 With Or Without Situs Inversus Ciliary Dyskinesia, Primary, 14, With Or Without Situs Inversus Ics14 Immotile Cilia Syndrome 14 Dyskinesia, Ciliary, Primary, Type 14
Kidney Hypertrophy	Hypertrophy Of Kidney
Localized Osteosarcoma	Localised Osteogenic Sarcoma Localised Osteosarcoma Localized Osteogenic Sarcoma
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Wilson-Turner Syndrome WTS Mrxs6 X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome Mrxswt Wilson-Turner X-Linked Mental Retardation Syndrome Mental Retardation, X-Linked, Syndromic 6 Mental Retardation, X-Linked, With Gynecomastia And Obesity Intellectual Disability, X-Linked, Syndromic 6 Intellectual Disability, X-Linked, With Gynecomastia And Obesity Wilson Turner Intellectual Disability Syndrome X-Linked Intellectual Disability - Gynecomastia - Obesity
Carbuncle	Carbuncle And Furuncle Of Any Part Of Face Except Eye Carbuncle And Furuncle Of Buttock Carbuncle And Furuncle Of Face Carbuncle And Furuncle Of Foot Carbuncle And Furuncle Of Gluteal Region Carbuncle And Furuncle Of Hand Carbuncle And Furuncle Of Leg Except Foot Carbuncle And Furuncle Of Neck Carbuncle And Furuncle Of Trunk Carbuncle And Furuncle Of Upper Arm And Forearm
Toxic Encephalopathy	Neurotoxicity Neurotoxicity Syndromes Neurotoxicity Syndrome Encephalopathy, Toxic
Amelogenesis Imperfecta, Type Ig	Enamel-Renal Syndrome Ers Amelogenesis Imperfecta Type 1g AI1G Enamel-Renal-Gingival Syndrome Amelogenesis Imperfecta And Gingival Fibromatosis Syndrome Aigfs Amelogenesis Imperfecta, Hypoplastic, With Nephrocalcinosis Amelogenesis Imperfecta Hypoplastic With Nephrocalcinosis Amelogenesis Imperfecta Type Ig Amelogenesis Imperfecta-Nephrocalcinosis Syndrome Amelogenesis Imperfecta 1g Hypoplastic Amelogenesis Imperfecta With Nephrocalcinosis Amelogenesis Imperfecta Nephrocalcinosis
Autonomic Nervous System Neoplasm	Tumor Of Autonomic Nervous System
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Gallbladder Cancer	Gallbladder Carcinoma Gallbladder Neoplasm Malignant Neoplasm Of Gallbladder Malignant Tumour Of Gallbladder Gallbladder Ca Localized Malignant Gallbladder Neoplasm Malignant Tumor Of The Gallbladder Tumor Of The Gallbladder Cancer Of The Gallbladder Carcinoma Gallbladder Carcinoma Of Gallbladder Gallbladder Neoplasms Malignant Neoplasm Of Gallbladder Localized Cancer Of Gallbladder Primary Malignant Neoplasm Of Gallbladder
Neuroblastoma	Nb Neuroblastoma, Susceptibility To Neuroblastomas Central Neuroblastoma
Breast Adenocarcinoma	Mammary Adenocarcinoma Adenocarcinoma Of Breast
Peripheral Nervous System Neoplasm	Peripheral Nervous System Neoplasms Nerve Sheath Neoplasm Neoplasm Of Peripheral Nerve Tumor Of Pns Nerve Sheath Neoplasms Nerve Sheath Tumors
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Leukemia, Acute Monocytic	Acute Monocytic Leukemia Acute Monoblastic Leukemia And Acute Monocytic Leukemia Acute Monocytic Leukaemia Acute Monocytic Leukaemia Without Mention Of Remission Acute Monocytic Leukemia Without Mention Of Remission Acute Monocytic Leukemia, Fab M5 Acute Monocytic Leukemia, Morphology Leukemia, Monocytic, Acute M5b Acute Differentiated Monocytic Leukemia
Lung Adenoma	Adenoma Of Lung Pulmonary Adenoma
Esophageal Cancer	Esophageal Carcinoma Carcinoma Of Esophagus Esophageal Squamous Cell Carcinoma, Somatic Esophageal Carcinoma, Somatic Esophagus Cancer Gastric Cardia Adenocarcinoma Esophageal Neoplasms Esophageal Cancer, Somatic Cancer Of Esophagus Cancer Of Oesophagus Carcinoma Of Oesophagus Ca Lower Third Oesophagus Ca Middle Third Oesophagus Malignant Neoplasm Of Distal Third Of Esophagus Malignant Neoplasm Of Lower Third Of Oesophagus Malignant Neoplasm Of Middle Third Of Oesophagus Malignant Neoplasm Of Proximal Third Of Esophagus Malignant Neoplasm Of Upper Third Esophagus Malignant Tumor Of Abdominal Esophagus Malignant Tumor Of Distal Third Of Esophagus Malignant Tumor Of Proximal Third Of Esophagus Malignant Tumor Of The Middle Third Of The Esophagus ESCR Aerodigestive Tract Cancer Escc Esophageal Squamous Cell Carcinoma Cancer, Esophageal Malignant Neoplasm Of Esophagus Squamous Cell Carcinoma Of Esophagus Malignant Neoplasm Of Middle Third Of Esophagus
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Colorectal Adenocarcinoma	Adenocarcinoma Of Large Intestine
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
Exudative Vitreoretinopathy 1	Retinopathy Of Prematurity Retrolental Fibroplasia EVR1 Criswick-Schepens Syndrome Rop Exudative Vitreoretinopathy, Familial, Autosomal Dominant Fevr, Autosomal Dominant Premature Retinopathy Vitreoretinopathy, Exudative 1 Autosomal Dominant Familial Exudative Vitreoretinopathy Fevr Vitreoretinopathy, Exudative, Type 1 Retinopathy Of Prematurity Nos Rlf- [Retrolental Fibroplasia] Rop - [Retinopathy Of Prematurity] Terry Syndrome
Skin Papilloma	Cutaneous Papilloma Papilloma Of Skin Papilloma Skin
Phenylketonuria	Phenylalanine Hydroxylase Deficiency PKU Pah Deficiency Folling Disease Maternal Phenylketonuria Phenylketonurias Oligophrenia Phenylpyruvica Hyperphenylalaninemia, Non-Pku Mild Folling'S Disease Phenylalaninemia Mild Phenylketonuria Mild Pku Variant Pku Variant Phenylketonuria Mpku Deficiency Disease, Phenylalanine Hydroxylase Phenylketonuria, Maternal Phenylalanine Hydroxylase Deficiency Disease Hyperphenylalaninemic Embryopathy Maternal Pku Maternal Hyperphenylalaninemia Phenylketonuric Embryopathy Hyperphenylalaninemia HPA Non-Phenylketonuria Hyperphenylalaninemia NON-PKU HPA Phenylketonuria Maternal Classical Phenylketonuria Hyperphenylalaninaemia Pku - [Phenylketonuria]
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Non-Alcoholic Steatohepatitis	Nonalcoholic Steatohepatitis Nash Nash - [Non-Alcoholic Steatohepatitis] Non-Alcoholic Steatohepatosis
Respiratory System Benign Neoplasm
Ovary Adenocarcinoma	Ovarian Adenocarcinoma Adenocarcinoma Of The Ovary Ovarian Adenoacanthoma Adenocarcinoma Of Ovary
Colon Adenoma	Adenomatous Polyp Of Colon
Estrogen-Receptor Positive Breast Cancer
Intestinal Benign Neoplasm	Intestinal Neoplasms Intestinal Tumors Intestine Growth Neoplasm Of Intestinal Tract
Suppression Of Tumorigenicity 12	Prostate Adenocarcinoma Adenocarcinoma Of Prostate ST12 Prostate Adenocarcinoma 1 Pac1
Colonic Benign Neoplasm	Colon Neoplasm Colonic Mass Colonic Tumor Neoplasm Of Colon Neoplasm Of The Colon Colonic Neoplasms Colon Cancer Colon Carcinoma Nos Colonic Cancer Metastatic Colon Cancer Nos
Cervix Carcinoma	Cancer Of Cervix Carcinoma Of Cervix Carcinoma Cervix Uteri Carcinoma Of The Cervix Uteri
Syndromic X-Linked Intellectual Disability	X-Linked Syndromic Intellectual Disability
Malignant Ovarian Surface Epithelial-Stromal Neoplasm	Malignant Ovarian Surface Epithelial-Stromal Tumor
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic Cardiomyopathy 25 CMH25 Cardiomyopathy, Hypertrophic, 25 Cardiomyopathy Familial Hypertrophic 25 Cardiomyopathy, Familial Hypertrophic 25 Cardiomyopathy, Hypertrophic, Type 25
Pre-Malignant Neoplasm
Bone Osteosarcoma	Osteosarcoma Of Bone Primary Osteosarcoma Of Bone
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
Brain Glioma	Lower Grade Glioma Intracranial Glioma Glioma Nos
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Giant Axonal Neuropathy 1, Autosomal Recessive	Giant Axonal Neuropathy Giant Axonal Neuropathy 1 Gan GAN1 Giant Axonal Neuropathy-1 Neuropathy, Giant Axonal Giant Axonal Disease Neuropathy, Axonal, Giant, Type 1
Sensory System Disease
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Ovarian Cystadenocarcinoma	Cystadenocarcinoma Of Ovary Cystadenocarcinoma Of The Ovary
Lymphangioma	Lymphatic Malformation Lymphatic Malformations Benign Lymphangioma Congenital Lymphangioma Lymphangiomas
Eye Degenerative Disease
Specific Developmental Disorder
Renal Cell Carcinoma, Nonpapillary	Renal Cell Carcinoma RCC Nonpapillary Renal Cell Carcinoma Clear Cell Renal Cell Carcinoma Hypernephroma Adenocarcinoma Of Kidney Renal Carcinoma, Chromophobe, Somatic Clear Cell Carcinoma Of Kidney Clear-Cell Metastatic Renal Cell Carcinoma Clear Cell Renal Carcinoma Renal Cell Carcinoma, Somatic Conventional Renal Cell Carcinoma Conventional Renal Cell Carcinoma Renal Clear Cell Carcinoma Ccrcc Hereditary Clear Cell Renal Cell Carcinoma Carcinoma, Renal Cell Renal Cell Carcinoma, Clear Cell, Somatic Renal Cell Carcinoma, Clear Cell Clear Cell Kidney Carcinoma Clear Cell Rcc Cystic-Multilocular Variant Clear Cell Renal Cell Adenocarcinoma Hereditary Clear Cell Renal Cell Adenocarcinoma Common Renal Cell Carcinoma Crcc Renal Cell Carcinoma Non-Papillary Carcinoma Renal Cell Renal Cell Cancer Carcinoma, Renal Cell, Nonpapillary
Retinitis Pigmentosa 11	RP11 Retinitis Pigmentosa-11 Retinitis Pigmentosa, Type 11
Amelogenesis Imperfecta	Ai Congenital Enamel Hypoplasia Al - [Amelogenesis Imperfecta]
Syndromic Intellectual Disability
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Head And Neck Cancer	Head And Neck Neoplasm Head And Neck Tumours Head/Neck Neoplasm Tumor Of Head And Neck Head And Neck Neoplasms Hnc Cancer, Head/Neck
Lipid Metabolism Disorder	Dyslipidemia Disorder Of Fatty Acid Metabolism Lipid Metabolism Disorders Fatty Acid Metabolism Disorder Disorder Of Lipid Metabolism Abnormality Of Lipid Metabolism Lipid Metabolism, Inborn Errors Dyslipidemias Disorders Of Lipid Metabolism Congenital Disorders Of Lipid Metabolism Inherited Disorders Of Lipid Metabolism
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
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
Chromophobe Renal Cell Carcinoma	Chromophobe Adenocarcinoma Chromophobe Carcinoma Of Kidney Kidney Chromophobe Renal Cell Carcinoma, Chromophobe Cell Crcc Chrcc Chromophobe Renal Cell Adenocarcinoma Chromophobe Renal Carcinoma Chromophobe Carcinoma
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Severe Combined Immunodeficiency	Scid Severe Combined Immunodeficiency Disease Combined T And B Cell Inborn Immunodeficiency Immunodeficiency, Severe Combined Scid - [Severe Combined Immunodeficiencies]
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
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Pick Disease Of Brain	Pick Disease Pick'S Disease Pick Disease Of The Brain Lobar Atrophy Of Brain Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions Behavioral Variant Of Frontotemporal Dementia Dementia In Pick'S Disease Lobar Atrophy Of The Brain Bvftd Bv-Ftd PIDB Picks Disease
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
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Leukemia, Acute Myeloid	Acute Myeloid Leukemia Leukemia, Acute Myelogenous Acute Myelogenous Leukemia AML Leukemia, Acute Myeloid, Susceptibility To Acute Myeloblastic Leukemia Leukemia, Acute Myeloid, Reduced Survival In, Somatic Acute Myeloid Leukaemia Leukemia, Myelocytic, Acute Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Secondary Aml Acute Myelocytic Leukemia Acute Myeloid Leukemia, Somatic Leukemia, Acute Myeloid, Somatic Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic Acute Myeloblastic Leukaemia Acute Myelogenous Leukaemia Aml - Acute Myeloid Leukemia Acute Myeloid Leukemia With Cebpa Somatic Mutations Aml With Cebpa Somatic Mutations Inherited Acute Myeloid Leukemia Familial Aml Inherited Aml Pure Familial Aml Pure Familial Acute Myeloid Leukemia Secondary Acute Myeloid Leukemia Therapy-Related Aml And Myelodysplastic Syndrome Acute Myeloid Leukemia, Secondary Acute Non-Lymphoblastic Leukemia Acute Non-Lymphocytic Leukemia Acute Biphenotypic Leukemia Acute Undifferentiated Leukemia Acute Myeloblastic Leukaemia With Multilineage Dysplasia Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission Acute Myeloid Leukaemia With Myelodysplasia-Related Features
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Acute Promyelocytic Leukemia	Leukemia, Acute Promyelocytic Acute Myeloblastic Leukemia Type 3 Aml M3 APL Leukemia, Acute Promyelocytic, Somatic Aml With T(15 17)(Q22 Q12) (Pml/Raralpha) And Variants Apml Acute Myeloblastic Leukemia 3 Acute Myeloid Leukemia With T(15 17)(Q22 Q12) (Pml/Raralpha) And Variants Acute Myeloblastic Leukaemia Type 3 Acute Myeloid Leukaemia M3 Acute Myeloid Leukemia M3 Acute Promyelocytic Leukaemia M3 Anll Myeloid Leukemia, Acute, M3 Leukemia Promyelocytic Acute Leukemia, Promyelocytic, Acute Leukemia, Acute, Promyelocytic
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
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
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
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
Leukemia, Chronic Lymphocytic	Chronic Lymphocytic Leukemia B-Cell Chronic Lymphocytic Leukemia CLL B-Cell Chronic Lymphoid Leukemia Chronic Lymphatic Leukemia Chronic Lymphocytic Leukaemia Lymphoplasmacytic Leukemia Small Lymphocytic Lymphoma Leukemia, Chronic Lymphatic B-Cell Chronic Lymphocytic Leukaemia Chronic Lymphatic Leukaemia Lymphoplasmacytic Leukaemia B Cell Chronic Lymphocytic Leukemia Chronic B-Cell Lymphocytic Leukemia Leukemia, Lymphocytic, Chronic B-Cll Chronic Lymphoid Leukemia Leukemia Lymphocytic Chronic Lymphoma Small Lymphocytic Leukemia, Lymphocytic, Chronic, B-Cell
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
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
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy

Diseases	Alias
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

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-16025	EOC317	Inhibitor	98.01%	Phase 1

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-184235	β-actin-IN-1	Inhibitor	/	Unkown
HY-N19906	Psoralenol	Inhibitor	/	Unkown
HY-RS00215	ACTB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS10891	POTEF Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17630	Actb Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24090	Actb Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ACTB	VGNC	VGNC:106628
Mus musculus	ACTB	MGD	MGI:87904
Felis catus	ACTB	VGNC	VGNC:107736
Macaca mulatta	ACTB	VGNC	VGNC:107102
Rattus norvegicus	ACTB	RGD	RGD:628837
Others	ACTB	NCBI