GJA1 - gap junction protein alpha 1 Gene

Also Known as HSS; CMDR; CX43; EKVP; GJAL; ODDD; AVSD3; EKVP3; HLHS1; PPKCA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2697

About GJA1

Cytogenetic location: 6q22.31 Genomic coordinates (GRCh38): 6:121,435,646-121,449,727 (from NCBI)

This gene has 4 transcripts (splice variants), 124 orthologues, 20 paralogues and is associated with 22 phenotypes. Broad expression in skin (RPKM 198.8), adrenal (RPKM 176.9) and 17 other tissues.

Summary

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight Materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]

GJA1 Products (1)

mRNA	Protein	Name
NM_000165.5	NP_000156.1	gap junction alpha-1 protein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables alpha-tubulin binding	IDA IDA: Inferred from direct assay	29163229	GOA
enables beta-catenin binding	IPI IPI: Inferred from physical interaction	30992345	GOA
enables gap junction channel activity	IDA IDA: Inferred from direct assay	1696265	GOA
enables gap junction channel activity involved in cell communication by electrical coupling	IDA IDA: Inferred from direct assay	1696265	GOA
enables gap junction hemi-channel activity	IMP IMP: Inferred from mutant phenotype	29366904	GOA
enables monoatomic ion transmembrane transporter activity	IDA IDA: Inferred from direct assay	1696265	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9707407	GOA
enables tubulin binding	IDA IDA: Inferred from direct assay	22558917	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cell communication by electrical coupling	IDA IDA: Inferred from direct assay	1696265	GOA
involved in cell-cell signaling	IDA IDA: Inferred from direct assay	1696265	GOA
involved in establishment of mitotic spindle orientation	IMP IMP: Inferred from mutant phenotype	30992345	GOA
involved in microtubule-based transport	IMP IMP: Inferred from mutant phenotype	29163229	GOA
involved in monoatomic ion transmembrane transport	IDA IDA: Inferred from direct assay	1696265	GOA
involved in negative regulation of gonadotropin secretion	IMP IMP: Inferred from mutant phenotype	30599359	GOA
involved in negative regulation of trophoblast cell migration	IMP IMP: Inferred from mutant phenotype	30599359	GOA
acts upstream of positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	28342807	GOA
involved in positive regulation of mesodermal cell differentiation	IMP IMP: Inferred from mutant phenotype	30599359	GOA
involved in positive regulation of morphogenesis of an epithelium	IMP IMP: Inferred from mutant phenotype	30992345	GOA
involved in positive regulation of stem cell proliferation	IMP IMP: Inferred from mutant phenotype	30599359	GOA
acts upstream of positive regulation of vascular associated smooth muscle cell proliferation	IMP IMP: Inferred from mutant phenotype	28342807	GOA
involved in protein localization	IMP IMP: Inferred from mutant phenotype	30992345	GOA
involved in signal transduction	IDA IDA: Inferred from direct assay	1696265	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cell junction	IDA IDA: Inferred from direct assay	29366904	GOA
located in cell-cell contact zone	IDA IDA: Inferred from direct assay	11090614	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	24210816	GOA
located in gap junction	IDA IDA: Inferred from direct assay	1696265	GOA
located in intercalated disc	IDA IDA: Inferred from direct assay	22889254	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	15919068	GOA
located in nucleus	IDA IDA: Inferred from direct assay	30242148	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	11090614	GOA
located in tight junction	IDA IDA: Inferred from direct assay	30992345	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

GJA1 Protein Structure

Connexin

Connexin43

0
100
200
300
382 a.a.

Protein Preferred Names	Protein Names
gap junction alpha-1 protein	connexin-43

GJA1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GJA1	P17302	NINJ2	Homo sapiens	Q9NZG7	Validated Y2H	32296183
Intra	GJA1	P17302	PLPP4	Homo sapiens	Q5VZY2	Validated Y2H	32296183
Intra	GJA1	P17302	TMEM128	Homo sapiens	Q5BJH2-2	Validated Y2H	32296183
Intra	GJA1	P17302	TMEM86B	Homo sapiens	Q8N661	Validated Y2H	32296183
Intra	GJA1	P17302	ARFGAP3	Homo sapiens	Q9NP61	Validated Y2H	32814053
Intra	GJA1	P17302	ARFGAP3	Homo sapiens	Q9NP61	Y2H Array	32814053
Intra	GJA1	P17302	ARFGAP3	Homo sapiens	Q9NP61	Y2H Pooling	32814053
Intra	GJA1	P17302	CREB3	Homo sapiens	O43889-2	Validated Y2H	25910212
Intra	GJA1	P17302	CREB3	Homo sapiens	O43889-2	Y2H Array	31515488
Intra	GJA1	P17302	CREB3	Homo sapiens	O43889-2	Y2H Array	25910212
Intra	GJA1	P17302	CREB3	Homo sapiens	O43889-2	Y2H Bait-Prey Pool	25910212
Intra	GJA1	P17302	DSC2	Homo sapiens	Q02487-1	Pull Down	21220045
Intra	GJA1	P17302	C1orf216	Homo sapiens	Q8TAB5	Y2H Pooling	32814053
Intra	GJA1	P17302	C1orf216	Homo sapiens	Q8TAB5	Validated Y2H	32814053
Intra	GJA1	P17302	C1orf216	Homo sapiens	Q8TAB5	Y2H Array	32814053
Intra	GJA1	P17302	TJP1	Homo sapiens	Q07157	Pull Down	16944923
Intra	GJA1	P17302	CSNK1D	Homo sapiens	P48730-2	Y2H Pooling	32814053
Intra	GJA1	P17302	CSNK1D	Homo sapiens	P48730-2	Validated Y2H	32814053
Intra	GJA1	P17302	CSNK1D	Homo sapiens	P48730-2	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant GJA1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72205	GJA1 Protein, Human (His)	P17302 (F233-I382)	≥ 90%, as determined by reducing SDS-PAGE.

GJA1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80628	Connexin 43 Antibody	WB, IHC-F, IHC-P, ICC/IF, ELISA	Human, Mouse, Rat
HY-P86348	Connexin 43 Antibody (YA6040)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Oculodentodigital Dysplasia	Odd Syndrome ODDD Oculodentoosseous Dysplasia Oculodentodigital Syndrome Odod Oculo-Dento-Digital Dysplasia Oculo-Dento-Digital Syndrome Oculo-Dento-Osseous Dysplasia Osseous-Oculo-Dental Dysplasia Meyer-Schwickerath Syndrome Oddd Syndrome Oculo Dento Digital Dysplasia Odds Oculodentodigital Dysplasia Syndrome
Syndactyly, Type Iii	Syndactyly Type 3 SDTY3 Ring And Little Finger Syndactyly Syndactyly Of Fingers Iv And V Syndactyly Of Fingers 4 And 5 Ringand Little Finger Syndactyly Syndactyly Of Fingers Four And Five Syndactyly Of The Ring And Little Finger Sd3 Syndactyly 3 Syndactyly Type Iii 4-5 Finger Syndactyly Syndactyly, Type 3
Palmoplantar Keratoderma And Congenital Alopecia 1	Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia PPKCA1 Keratoderma-Hypotrichosis-Leukonychia Totalis Syndrome Autosomal Dominant Palmoplantar Hyperkeratosis And Congenital Alopecia Palmoplantar Keratoderma And Congenital Alopecia, Stevanovic Type Ppk-Ca, Stevanovic Type Ppkca, Stevanovic Type Palmoplantar Keratoderma With Congenital Alopecia Ppkca Stevanovic Type Alopecia Congenita With Hyperkeratosis Of The Palms And Soles Alopecia Congenita Keratosis Palmoplantaris Keratoderma, Palmoplantar, With Congenital Alopecia, Type 1
Craniometaphyseal Dysplasia, Autosomal Recessive	CMDR Autosomal Recessive Craniometaphyseal Dysplasia Craniometaphyseal Dysplasia, Autosomal Recessive Type Dysplasia, Craniometaphyseal, Autosomal Recessive
Erythrokeratodermia Variabilis Et Progressiva 3	EKVP3
Oculodentodigital Dysplasia, Autosomal Recessive	Oddd, Autosomal Recessive Oculodentoosseous Dysplasia, Autosomal Recessive Odod, Autosomal Recessive ODDD-AR Autosomal Recessive Oculodentoosseous Dysplasia Autosomal Recessive Oddd Autosomal Recessive Odd Syndrome Autosomal Recessive Odod
Atrioventricular Septal Defect 3	AVSD3 Septal Defect, Atrioventricular, Type 3
Hypoplastic Left Heart Syndrome 1	HLHS1 Hlhs Hypoplastic Left Heart Syndrome
Hallermann-Streiff Syndrome	Francois Dyscephalic Syndrome HSS Hallermann'S Syndrome Oculomandibulofacial Syndrome Hallerman - Streiff Syndrome François Dyscephalic Syndrome Hallermann Streiff Francois Syndrome Hallermann Streiff Syndrome
Syndactyly, Type V	Syndactyly Type 5 SDTY5 Syndactyly With Metacarpal And Metatarsal Fusion Syndactyly With Associated Metacarpal And Metatarsal Fusion Postaxial Syndactyly With Metacarpal Synostosis Sd5 Syndactyly 5 Syndactyly Type V
Erythrokeratodermia Variabilis Et Progressiva 1	Erythrokeratodermia Variabilis Erythrokeratodermia Variabilis Et Progressiva Greither Disease Ekv Ekvp PSEK Erythrokeratodermia Variabilis With Erythema Gyratum Repens Keratosis Palmoplantaris Transgrediens Et Progrediens Transgrediens Et Progrediens Palmoplantar Keratoderma EKVP1 Erythrokeratodermia, Progressive Symmetric Erythrokeratodermia Figurata, Congenital Familial, In Plaques Keratoderma Palmoplantaris Transgrediens Keratosis Extremitatum Hereditaria Progrediens Erythrokeratodermia Variabilis, Mendes Da Costa Type Progressive Symmetric Erythrokeratodermia Erythrokeratodermia Figurata Variabilis Greither'S Disease Ekv-P Erythrokeratodermia Variabilis Of Mendes Da Costa Progressive Symmetrical Erythrokeratoderma Of Gottron Progressive Diffuse Ppk Progressive Diffuse Palmoplantar Keratoderma Transgrediens Et Progrediens Ppk Darier-Gottron Disease Erythrokeratodermia Progressiva Symmetrica Progressive Symmetric Erythrokeratodermia, Gottron Type Congenital Familial Erythrokeratodermia Figurata In Plaques Erythrokeratodermia Progressive Symmetric Erythrokeratodermia Variabilis Mendes Da Costa Type
Craniometaphyseal Dysplasia, Autosomal Dominant	Craniometaphyseal Dysplasia CMDD Cmdj Cmd Autosomal Dominant Craniometaphyseal Dysplasia Craniometaphyseal Dysplasia, Jackson Type Craniometaphyseal Dysplasia Jackson Type Autosomal Recessive Craniometaphyseal Dysplasia Cmdr Dysplasia, Craniometaphyseal, Autosomal Dominant Craniometaphyseal Dysplasia, Autosomal Recessive Type
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
Hyperostosis	Hypertrophy Of Bone Bone Hypertrophy Bone Thickening Periosteum Thickening
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
Skin Atrophy	Atrophic Condition Of Skin Atrophoderma Atrophy - Skin
Hypotrichosis
Atrioventricular Septal Defect	AVSD Atrioventricular Canal Defect Avcd Endocardial Cushion Defect Ecd Avc Defect Atrioventricular Septal Defect, Susceptibility To, 1 Atrioventricular Septal Defect 1 Endocardial Cushion Defects Septal Defect, Atrioventricular Atrioventricular Defect With Atrial Shunting Only Incomplete Atrioventricular Septal Defect With Isolated Atrial Component Incomplete Atrioventricular Canal Defect With Isolated Atrial Component Primum Atrial Septal Defect Partial Atrioventricular Canal Defect With Isolated Atrial Component Partial Atrioventricular Septal Defect, Ostium Primum Type Ostium Primum Atrial Septal Defect Partial Atrioventricular Canal Defect Partial Atrioventricular Septal Defect Atrial Septum Primum Defect Atrioventricular Canal Defect With Isolated Ventricular Component Atrioventricular Canal Defect With Isolated Ventricular Communication Atrioventricular Septal Defect With Isolated Ventricular Component Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect Intermediate Atrioventricular Canal Defect Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices Intermediate Atrioventricular Septal Defect Transitional Atrioventricular Canal Defect Transitional Atrioventricular Septal Defect Complete Atrioventricular Canal With Atrial And Ventricular Components Complete Atrioventricular Canal Defect Complete Atrioventricular Septal Defect
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
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
Lung Giant Cell Carcinoma	Carcinoma, Giant Cell Giant Cell Carcinoma Giant Cell Lung Carcinoma Carcinoma Giant Cell Giant Cell Carcinoma Of Lung
Atrial Fibrillation	A-Fib Fibrillation, Atrial Af - [Atrial Fibrillation] Rapid Atrial Fibrillation A Fib - [Atrial Fibrillation]
Palmoplantar Keratosis	Palmoplantar Keratoderma Keratosis Palmaris Et Plantaris Palmo-Plantar Keratodermas Keratoderma, Palmoplantar Keratoderma Palmoplantar Keratoderma, Palmoplantar, Diffuse Hyperkeratosis Of Palms And Soles Palmoplantar Hyperkeratosis
Keratosis	Actinic Keratosis Hyperkeratosis
Seminoma	Seminoma, Pure
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
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]
Ischemia	Acute Coronary Syndrome
Bart-Pumphrey Syndrome	Knuckle Pads, Leukonychia, And Sensorineural Deafness BAPS Knuckle Pads, Leuconychia And Sensorineural Deafness Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Keratoderma Syndrome Knuckle Pads, Deafness And Leukonychia Syndrome Knuckle Pads, Deafness, And Leukonychia Syndrome Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Hyperkeratosis Syndrome Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Keratoderma Syndrome
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Leiomyoma	Leiomyomatous Neoplasm Leiomyomatous Tumor Leiomyomas Fibroid Tumor Uterine Fibroids
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Kid Syndrome Keratitis-Ichthyosis-Deafness Syndrome Senter Syndrome KIDAD Kid Syndrome, Autosomal Dominant Autosomal Dominant Keratitis-Ichthyosis-Deafness Syndrome Ichthyosis Hystrix Rheydt Type Kid/Hid Syndrome Keratitis-Ichthyosis-Deafness/Hystrix-Like Ichthyosis-Deafness Syndrome Keratitis Ichthyosis And Deafness Syndrome Autosomal Dominant Kid Syndrome Keratitis, Ichthyosis, And Deafness Syndrome Ichthyosiform Erythroderma, Corneal Involvement, And Deafness Keratitis, Ichthyosis, And Deafness Keratitis-Ichthyosis-Hearing Loss/Hystrix-Like Ichthyosis-Hearing Loss Syndrome
Temporal Lobe Epilepsy	Epilepsy, Temporal Lobe Epilepsy Temporal Lobe
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
Clouston Syndrome	Ectodermal Dysplasia 2, Clouston Type Hidrotic Ectodermal Dysplasia ECTD2 Clouston'S Hidrotic Ectodermal Dysplasia Hidrotic Ectodermal Dysplasia Syndrome Clouston Hidrotic Ectodermal Dysplasia Clouston'S Syndrome Ed2 Ectodermal Dysplasia, Hidrotic Hed2 Ectodermal Dysplasia Ectodermal Dysplasia, Hidrotic, Autosomal Dominant Ectodermal Dysplasia, Hidrotic, 2, Formerly Hed2, Formerly Autosomal Dominant Hidrotic Ectodermal Dysplasia Hed Hidrotic Ectodermal Dysplasia, Autosomal Dominant Hidrotic Ectodermal Dysplasia 2 Ectodermal Dysplasia 2 Hidrotic Ectodermal Dysplasia Hidrotic Autosomal Dominant Dysplasia, Ectodermal, Hidrotic
Keratoderma, Palmoplantar, With Deafness	Palmoplantar Keratoderma-Deafness Syndrome Palmoplantar Keratoderma With Deafness Palmoplantar Hyperkeratosis-Deafness Syndrome Palmoplantar Hyperkeratosis-Hearing Loss Syndrome Palmoplantar Keratoderma-Hearing Loss Syndrome Ppk-Deafness Syndrome Keratoderma Palmoplantar Deafness Diffuse Palmoplantar Keratoderma With Deafness Focal Palmoplantar Keratoderma With Sensorineural Deafness Hereditary Palmoplantar Keratoderma With Deafness Keratoderma Palmoplantar, With Deafness Palmoplantar Keratoderma And Sensorineural Deafness Ppk With Deafness PPKDFN Keratoderma Palmoplantar, Deafness
Naxos Disease	Mal De Naxos NXD Cardiomyopathy, Arrhythmogenic Right Ventricular, With Skin, Hair, And Nail Abnormalities Woolly Hair, Palmoplantar Keratoderma, And Cardiac Abnormalities Palmoplantar Keratoderma With Arrhythmogenic Right Ventricular Cardiomyopathy And Woolly Hair Keratosis Palmoplantaris With Arrythmogenic Cardiomyopathy Keratosis Palmoplantaris With Arrhythmogenic Cardiomyopathy Keratosis Palmoplantaris Arrythmogenic Cardiomyopathy Woolly Hair Woolly Hair Palmoplantar Keratoderma Cardiac Abnormalities Kwwh Type I Keratoderma With Woolly Hair Type I Palmoplantar Hyperkeratosis With Arrythmogenic Cardiomyopathy Palmoplantar Keratoderma With Arrythmogenic Cardiomyopathy
Acute Chest Syndrome	Acute Chest Syndrome In Sickle Cell Disease
Vohwinkel Syndrome	Mutilating Keratoderma Keratoderma Hereditarium Mutilans Khm VOWNKL Deafness, Congenital, With Keratopachydermia And Constrictions Of Fingers And Toes Mutilating Keratoderma Of Vohwinkel Mutilating Keratoderma Plus Deafness Ppk Mutilans And Deafness Congenital Deafness With Keratopachydermia And Constrictions Of Fingers And Toes Congenital Deafness With Keratopachydermia And Constrictions Fo Fingers And Toes Palmoplantar Keratoderma Mutilans Palmoplantar Keratoderma Mutilans Vohwinkel Ppk Mutilans Vohwinkel Mutilating Keratoderma Plus Hearing Loss Ppk Mutilans And Hearing Loss
Leukodystrophy, Hypomyelinating, 2	Pmld1 Hypomyelinating Leukodystrophy 2 HLD2 Pelizaeus-Merzbacher-Like Disease 1 Pelizaeus-Merzbacher-Like Disease Due To Gjc2 Mutation Pelizaeus-Merzbacher-Like Disease Type 1 Pelizaeus-Merzbacher-Like Disease, 1 Pelizaeus Merzbacher Like Disease Pelizaeus-Merzbacher-Like Disease Pmld - Pelizaeus Merzbacher Like Disease Pelizaeus-Merzbacher-Like Disease Autosomal Recessive Type 1 Pmldar1 Leukodystrophy, Hypomyelinating, Type 2
Ectodermal Dysplasia	Congenital Ectodermal Defect Congenital Ectodermal Dysplasia Ectodermal Dysplasia Syndrome Dysplasia, Ectodermal
Brain Cancer	Adult Brain Tumor Malignant Neoplasm Of Brain Brain Neoplasms Brain Neoplasm Neoplasm Of Brain Primary Malignant Neoplasm Of Brain Brain Tumors Adult Malignant Brain Neoplasm Brain Neoplasm, Adult Bt - Brain Tumour Malignant Brain Tumour Malignant Primary Brain Neoplasm Malignant Primary Brain Tumor Malignant Tumor Of Adult Brain Malignant Tumor Of Brain Primary Brain Neoplasm Primary Brain Tumor Tumor Of The Brain Brain Tumor, Adult Brain Tumor Primary Malignant Primary Brain Tumors Primary Brain Tumors Cancer, Brain Brain Tumor, Primary
Myocarditis	Myocardial Inflammation Inflammatory Cardiomyopathy
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Carvajal Syndrome Palmoplantar Keratoderma With Left Ventricular Cardiomyopathy And Woolly Hair DCWHK Dilated Cardiomyopathy With Woolly Hair And Keratoderma Cardiomyopathy Dilated With Woolly Hair And Keratoderma Kwwh Type Ii Keratoderma With Woolly Hair Type Ii Woolly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome Woolly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome Wooly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome Wooly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome Epidermolytic Palmoplantar Keratoderma Woolly Hair And Dilated Cardiomyopathy Wooly Hair - Palmoplantar Keratoderma - Dilated Cardiomyopathy Cardiomyopathy, Dilated With Woolly Hair And Keratoderma
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
Syndromic X-Linked Intellectual Disability 34	Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome Mental Retardation, X-Linked, Syndromic 34 Mrxs34 Mrxsml Syndromic X-Linked Mental Retardation Mircsof-Langouet Type
Palmoplantar Keratoderma, Nonepidermolytic	Nonepidermolytic Palmoplantar Keratoderma NEPPK Tylosis Unna-Thost Syndrome Keratoderma, Palmoplantar, Diffuse Ppkne Keratoderma, Nonepidermolytic Palmoplantar Diffuse Nonepidermolytic Palmomplantar Keratoderma Thost-Unna Syndrome Non-Epidermolytic Palmoplantar Keratoderma Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type Diffuse Palmoplantar Keratoderma, Bothnian Type Krt1-Related Diffuse Nonepidermolytic Keratoderma Krt1-Related Diffuse Neppk Keratoderma, Palmoplantar, Non-Epidermolytic Nonepidermolytic Unna-Thost Disease Non-Epidermolytic Unna-Thost Disease Keratoderma, Palmoplantar, Nonepidermolytic Hyperkeratosis
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
Cardiomyopathy, Dilated, 1o	Dilated Cardiomyopathy 1o CMD1O Dilated Cardiomyopathy With Ventricular Tachycardia Cardiomyopathy, Dilated, With Ventricular Tachycardia Cardiomyopathy, Dilated 1o Cardiomyopathy, Dilated, Type 1o
Atrioventricular Block	Av Block
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
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
Balo Concentric Sclerosis	Balo'S Concentric Sclerosis Balo Disease Diffuse Cerebral Sclerosis Of Schilder Tumefactive Multiple Sclerosis Concentric Demyelination Balo'S Disease Baló Concentric Sclerosis Encephalitis Periaxialis Concentrica Marburg Variant
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
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
Heart Conduction Disease	Conduction Disorder Of The Heart Heart Rhythm Disease
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
Glioblastoma	Glioblastoma Multiforme Gbm Adult Glioblastoma Multiforme Grade Iv Adult Astrocytic Tumor Primary Glioblastoma Multiforme Spongioblastoma Multiforme Adult Glioblastoma Primary Glioblastoma
Glioblastoma Classical Subtype
Megalencephalic Leukoencephalopathy With Subcortical Cysts	Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts Mlc Van Der Knaap Disease Lvm Leukoencephalopathy With Swelling And Cysts Megalencephaly-Cystic Leukodystrophy Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome Infantile Leukoencephalopathy And Megalencephaly Leukoencephalopathy With Swelling And A Discrepantly Mild Course Vacuolating Leukoencephalopathy Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystrophy Syndrome Van Der Knaap Syndrome Leukoencephalopathy, Megalencephalic, With Subcortical Cysts
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Susceptibility To Lung Cancer, Protection Against Adenocarcinoma Of Lung, Somatic Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer Lung Neoplasm Carcinoma Of Lung Lung Non-Small Cell Carcinoma Non-Small Cell Lung Cancer Nsclc Lung Neoplasms Malignant Neoplasm Of Lung Alveolar Cell Carcinoma Nonsmall Cell Lung Cancer, Somatic Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer, Susceptibility To Lung Cancer, Somatic Lung Cancer, Resistance To Cancer Of Lung Cancer Of Bronchus Cancer Of The Lung Lung Malignancies Lung Malignant Tumors Malignant Lung Tumor Malignant Tumor Of Lung Pulmonary Cancer Pulmonary Carcinoma Pulmonary Neoplasms Respiratory Carcinoma LNCR Adenocarcinoma Of Lung Neoplasm Of Lung Cancer Lung Carcinoma Non-Small Cell Lung Carcinoma, Non-Small-Cell Lung Lung Cancers Lung Carcinomas Cancer, Lung Cancer, Lung, Non-Small Cell Primary Malignant Neoplasm Of Lung Bronchioloalveolar Adenocarcinoma
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	CMTX1 Cmtx Charcot-Marie-Tooth Disease X-Linked Dominant 1 Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1 X-Linked Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked Cmt1x X-Linked Charcot-Marie-Tooth Disease Type 1 X-Linked Hereditary Motor And Sensory Neuropathy Hereditary Motor And Sensory Neuropathy, X-Linked Hmsn, X-Linked Charcot-Marie-Tooth Neuropathy, X-Linked, 1 Cmt2, Formerly Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1 Charcot-Marie-Tooth Neuropathy X-Linked 1 Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked Hereditary Motor And Sensory Neuropathy X-Linked Hmsn X-Linked Charcot-Marie-Tooth, X-Linked Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1 Charcot-Marie-Tooth Disease, X-Linked, 1
Intraocular Pressure Quantitative Trait Locus	Glaucoma IOPQTL Glaucoma, Susceptibility To Postinfectious Glaucoma Glaucoma With Ocular Inflammation Glaucoma Secondary To Eye Inflammation Traumatic Glaucoma Glaucoma With Concussion Of Globe Glaucoma Due To Ocular Trauma Glaucoma Associated With Ocular Trauma Glaucoma Secondary To Drugs
Familial Woolly Hair Syndrome	Wooly Hair Familial Wooly Hair Syndrome Hereditary Woolly Hair Syndrome Hereditary Wooly Hair Syndrome Woolly Hair Syndrome With Woolly Hair Wooly Hair Syndrome
Neurogenic Bladder	Neurogenic Dysfunction Of The Urinary Bladder Neurogenic Urinary Bladder Disorder Neuropathic Bladder Bladder Neurogenic Urinary Bladder, Neurogenic Neurogenic Urinary Bladder
Intrinsic Cardiomyopathy
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Endometrial Cancer	Endometrial Carcinoma Endometrial Neoplasm Malignant Neoplasm Of Endometrium Endometrioid Carcinoma Endometrial Neoplasms Carcinoma, Endometrioid Endometrial Cancer, Familial Endometrial Carcinoma, Somatic Endometrial Cancer, Susceptibility To Endometrial Ca Malignant Endometrial Neoplasm Neoplasm Of Endometrium Primary Malignant Neoplasm Of Endometrium Tumor Of Endometrium Carcinoma Of The Endometrium Endometrioid Carcinoma Of Female Reproductive System ENDMC Carcinoma Endometrioid Endometrial Cancers Cancer, Endometrial Uterine Corpus Cancer
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
High Grade Glioma	Malignant Glioma Glial Cell Tumor Glioma, Malignant Malignant Neuroglial Tumor Neuroglial Tumor Glioma Malignant Gliomas
Fanconi Renotubular Syndrome 1	Renal Fanconi Syndrome Adult Fanconi Syndrome FRTS1 Fanconi Renotubular Syndrome Frts Rfs Fanconi Syndrome Without Cystinosis Luder-Sheldon Syndrome
Gliosarcoma	Glioblastoma With Sarcomatous Component Sarcomatous Glioblastoma
Heart Septal Defect	Septal Defect Heart Septal Defects Cardiac Septal Defects Congenital Septal Defect Of Heart
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
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Cancer Of The Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
Double Outlet Right Ventricle	Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect Taussig-Bing Syndrome Dextrotransposition Of Aorta Taussig-Bing Syndrome Or Defect Dorv Dorv With Subpulmonary Vsd Dorv-Tga Double Outlet Right Ventricle With Transposition Of The Great Arteries Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type Taussig-Bing Heart Taussig-Bing Malformation Taussig-Bing Complex Taussig-Bing Defect Taussig-Bing Double Outlet Right Ventricle With Remote Ventricular Septal Defect Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect Double Outlet Right Ventricle With Non-Committed Interventricular Communication Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
Type 1 Diabetes Mellitus 12	Diabetes Mellitus, Insulin-Dependent, 12 IDDM12 Insulin-Dependent Diabetes Mellitus 12 T1D12 Type 1 Diabetes Mellitus 12, Susceptibility To Diabetes Mellitus, Insulin-Dependent, Type 12
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]
Cardiovascular System Disease	Abnormality Of The Cardiovascular System Cardiovascular Disease Disease Of Subdivision Of Hemolymphoid System Disorder Of Cardiovascular System Cardiovascular Diseases
Spermatogenic Failure	Azoospermia Spgf Spermatogenic Failure, Susceptibility To Absent Sperm Aspermatogenesis Infertility Due To Azoospermia Hypospermatogenesis Azoospermatism
Ventricular Septal Defect	Ventricular Septal Defects Interventricular Septal Defect Heart Septal Defects, Ventricular Ventricular Septal Abnormality Interventricular Septum Defect Ventricular Septum Defect Vsd - [Ventricular Septum Defect] Congenital Ventricular Septal Defect Single Ventricular Septal Defect
Stroke, Ischemic	Cerebral Infarction Stroke Ischemic Stroke Cerebrovascular Accident Cerebral Infarction, Susceptibility To Stroke, Ischemic, Susceptibility To Cerebral Infarct Ischemic Stroke, Susceptibility To Stroke, Susceptibility To Cva - Cerebral Infarction ISCHSTR Ischemic Cerebrovascular Accident
Prostate Cancer	Prostate Carcinoma Prostate Cancer, Familial Prostate Neoplasm Prostate Cancer, Somatic Prostate Cancer, Susceptibility To Prostatic Cancer Prostatic Neoplasms Hereditary Prostate Cancer Prostatic Neoplasm Cancer Of Prostate Carcinoma Of Prostate Familial Prostate Cancer Familial Prostate Carcinoma Malignant Tumor Of Prostate Malignant Neoplasm Of Prostate Prostate Cancer, Familial, Susceptibility To Malignant Tumor Of The Prostate Ngp - New Growth Of Prostate Tumor Of The Prostate Prostate Cancer, Hereditary Cancer Of The Prostate Malignant Neoplasm Of The Prostate Prostatic Carcinoma PC Prca Cancer, Prostate Malignant Prostatic Tumour Malignant Tumour Of Prostate Primary Prostate Cancer Primary Malignant Neoplasm Of Prostate Prostate Gland Cancer
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
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
Hypomyelinating Leukodystrophy	Hld Leukodystrophy, Hypomyelinating
Familial Atrial Fibrillation	Atrial Fibrillation, Familial Atfb Atrial Fibrillation Autosomal Dominant Autosomal Dominant Atrial Fibrillation Auricular Fibrillation Atrial Fibrillation Atrial Fibrillation, Familial, 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
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
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
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
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

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

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05440	GJA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18762	Gja1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25249	Gja1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GJA1	RGD	RGD:2690
Felis catus	GJA1	VGNC	VGNC:102430
Bos taurus	GJA1	VGNC	VGNC:29370
Canis familiaris	GJA1	VGNC	VGNC:41231
Macaca mulatta	GJA1	VGNC	VGNC:73055
Mus musculus	GJA1	MGD	MGI:95713
Others	GJA1	NCBI