CHD7 - chromodomain helicase DNA binding protein 7 Gene

Also Known as CRG; HH5; IS3; KAL5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55636

About CHD7

Cytogenetic location: 8q12.2 Genomic coordinates (GRCh38): 8:60,678,740-60,868,028 (from NCBI)

This gene has 19 transcripts (splice variants), 134 orthologues, 30 paralogues and is associated with 7 phenotypes. Ubiquitous expression in bone marrow (RPKM 6.4), brain (RPKM 4.0) and 25 other tissues.

Summary

This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

CHD7 Products (2)

mRNA	Protein	Name
NM_001316690.1	NP_001303619.1	chromodomain-helicase-DNA-binding protein 7 isoform 2
NM_017780.4	NP_060250.2	chromodomain-helicase-DNA-binding protein 7 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20130577	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in T cell differentiation	IMP IMP: Inferred from mutant phenotype	17684005	GOA
involved in central nervous system development	IMP IMP: Inferred from mutant phenotype	9556299	GOA
involved in cognition	IMP IMP: Inferred from mutant phenotype	16155193	GOA
involved in cranial nerve development	IMP IMP: Inferred from mutant phenotype	9556299	GOA
involved in face development	IMP IMP: Inferred from mutant phenotype	15300250	GOA
involved in genitalia development	IMP IMP: Inferred from mutant phenotype	15300250	GOA
involved in heart morphogenesis	IMP IMP: Inferred from mutant phenotype	15300250	GOA
involved in in utero embryonic development	IMP IMP: Inferred from mutant phenotype	15300250	GOA
involved in inner ear morphogenesis	IMP IMP: Inferred from mutant phenotype	15300250	GOA
involved in limb development	IMP IMP: Inferred from mutant phenotype	17937444	GOA
involved in nose development	IMP IMP: Inferred from mutant phenotype	15300250	GOA
involved in regulation of growth hormone secretion	IMP IMP: Inferred from mutant phenotype	9556299	GOA
involved in retina development in camera-type eye	IMP IMP: Inferred from mutant phenotype	15300250	GOA
involved in secondary palate development	IMP IMP: Inferred from mutant phenotype	15300250	GOA
involved in skeletal system development	IMP IMP: Inferred from mutant phenotype	16155193	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	20453063	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

CHD7 Protein Structure

Chromo

SNF2_N

Helicase_C

BRK

0
500
1000
1500
2000
2500
2997 a.a.

Protein Preferred Names	Protein Names
chromodomain-helicase-DNA-binding protein 7	ATP-dependent helicase CHD7

CHD7 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CHD7	Q9P2D1	SMARCC2	Homo sapiens	Q8TAQ2	Anti Bait CoIP	20130577
Intra	CHD7	Q9P2D1	CHD8	Homo sapiens	Q9HCK8-2	BiFC	20453063
Intra	CHD7	Q9P2D1	PBRM1	Homo sapiens	Q86U86	Anti Bait CoIP	20130577

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Charge Syndrome	Charge Association Hall-Hittner Syndrome Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies Hhs Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome CHARGES
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	HH5 Kallmann Syndrome 5 Kal5 Hypogonadotropic Hypogonadism 5 Without Anosmia Hypogonadism, Hypogonadotropic, Type 5 With/Without Anosmia
Scoliosis, Isolated 3	Scoliosis, Isolated, Susceptibility To, 3 IS3 Idiopathic Scoliosis 3 Scoliosis, Idiopathic 3 Scoliosis, Idiopathic, Susceptibility To, Type 3
Kallmann Syndrome 5	Kal5
Chd7 Disorder
Retinochoroidal Coloboma	Coloboma Of Choroid And Retina Retinal Coloboma Choroidal Coloboma Chorioretinal Coloboma
Normosmic Congenital Hypogonadotropic Hypogonadism	Normosmic Idiopathic Hypogonadotropic Hypogonadism Nihh
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
Hypothyroidism	Thyroid Diseases Thyroid Disease Thyroid Deficiency Thyroid Insufficiency Dysfunction Thyroid Thyroid Dysfunction
Wiedemann-Steiner Syndrome	WDSTS Hairy Elbows, Short Stature, Facial Dysmorphism, And Developmental Delay Hypertrichosis-Short Stature-Facial Dysmorphism-Developmental Delay Syndrome Wiedemann Grosse Dibbern Syndrome Kmt2a-Related Neurodevelopmental Disorder Hairy Elbows Short Stature Facial Dysmorphism And Developmental Delay Hypertrichosis Cubiti Facial Dysmorphism And Developmental Delay Wss Growth Deficiency And Mental Retardation With Facial Dysmorphism
Scoliosis
3mc Syndrome	Craniofacial-Ulnar-Renal Syndrome Malpuech Facial Clefting Syndrome Oculopalatoskeletal Syndrome Carnevale Syndrome Michels Syndrome Malpuech-Michels-Mingarelli-Carnevale Syndrome Carnevale-Krajewska-Fischetto Syndrome Craniosynostosis With Lid Anomalies Malpuech Syndrome Mingarelli Syndrome Oculo-Skeletal-Abdominal Syndrome Osa Syndrome Ptosis Of Eyelids With Diastasis Recti And Hip Dysplasia Ptosis-Strabismus-Rectus Abdominis Diastasis
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia
Omenn Syndrome	Histiocytic Medullary Reticulosis Severe Combined Immunodeficiency With Hypereosinophilia Combined Immunodeficiency With Hypereosinophilia Reticuloendotheliosis, Familial, With Eosinophilia Reticuloendotheliosis Familial With Eosinophilia Familial Reticuloendotheliosis Omenn'S Syndrome OS Malignant Histiocytosis
Choanal Atresia, Posterior	Choanal Atresia Atresia Of Nares Posterior Choanal Atresia PCA Imperforate Nares Choanal Fusion Congenital Stenosis Of Nares Congenital Stenosis Of Choanae Nasal Atresia Nos
Pyloric Stenosis
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
Interatrial Communication	Asd Atrial Septal Defect Interauricular Communication
Idiopathic Scoliosis	Scoliosis Idiopathic
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
Hypogonadotropic Hypogonadism	Klinefelter Syndrome Klinefelter'S Syndrome Xxy Syndrome Xxy Trisomy Hypogonadotropism 47, Xxy Congenital Idiopathic Hypogonadotropic Hypogonadism Isolated Congenital Gonadotropin Deficiency 47,Xxy Syndrome 47, Xxy Syndrome Klinefelters Syndrome Hypogonadism Klinefelter Syndrome In Males Klinefelter Syndrome, Unspecified Klinefelter Syndrome Karyotype 47, Xxy
Hypogonadism
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Treacher Collins Syndrome 1	Treacher Collins Syndrome Mandibulofacial Dysostosis Treacher Collins-Franceschetti Syndrome Tcof Tcs Mfd1 Franceschetti-Klein Syndrome TCS1 Franceschetti Syndrome Franceschetti-Zwahlen-Klein Syndrome Zygoauromandibular Dysplasia Treacher-Collins Syndrome Mandibulofacial Dysostosis Without Limb Anomalies Bilateral And Symmetric Oto-Mandibular Dysplasia
Esophageal Atresia	Tracheoesophageal Fistula Congenital Atresia Of Esophagus Congenital Imperforate Esophagus Imperforate Esophagus Oesophageal Atresia Te Fistula Tef Tracheoesophageal Fistula With Or Without Esophageal Atresia
T-Cell Immunodeficiency With Thymic Aplasia	Nezelof Syndrome T-Lymphocyte Deficiency TIDTA Immune Defect Due To Absence Of Thymus Thymic Aplasia Nezelof'S Syndrome Thymic Dysplasia With Normal Immunoglobulins Thymic Aplasia Syndrome T-Lymphocyte Immunodeficiency
Microphthalmia, Syndromic 3	MCOPS3 Aeg Syndrome Microphthalmia And Esophageal Atresia Syndrome Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome Anophthalmia-Esophageal-Genital Syndrome Optic Nerve Hypoplasia And Abnormalities Of The Central Nervous System Syndromic Microphthalmia 3 Sox2 Anophthalmia Syndrome Anophthalmia Clinical With Associated Anomalies Anophthalmia Esophageal Genital Syndrome Anophthalmia Microphthalmia Esophageal Atresia Syndromic Microphthalmia Type 3 Sox2-Related Eye Disorders Anophthalmia, Clinical, With Associated Anomalies Syndromic Microphthalmia, Type 3 Microphthalmia, Syndromic, 3 Anophthalmia/Microphthalmia-Esophageal Atresia Microphthalmia Syndromic, Type 3
Cleft Lip	Cheiloschisis Labium Leporinum Cleft Lip, Unilateral, Complete Complete Unilateral Cleft Lip Hare Lip Congenital Fissure Of Lip Isolated Cleft Lip Cleft Lip Without Cleft Palate Cleft Lip Without Cleft Palate, Unilateral Isolated Cleft Lip, Unilateral Cleft Lip Without Cleft Palate, Bilateral Isolated Cleft Lip, Bilateral
Kabuki Syndrome 1	Kabuki Syndrome Niikawa-Kuroki Syndrome Kabuki Make-Up Syndrome Kms KABUK1 Kabuki Make Up Syndrome Nks Kabuki Makeup Syndrome Kabuki Syndrome, Type 1
Vacterl Association	Vater Association Vater Syndrome
Laryngomalacia	Congenital Laryngomalacia Congenital Laryngeal Stridor Laryngomalacia Congenital Floppy Epiglottis
Deafness, Autosomal Dominant 4a	Deafness, Autosomal Dominant 4 DFNA4A Dfna4 Autosomal Dominant Nonsyndromic Deafness 4a Autosomal Dominant Deafness 4a Deafness, Autosomal Dominant, 4a Deafness Autosomal Dominant 4 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 4 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 4 Deafness, Autosomal Dominant, Type 4a
Anus, Imperforate	Imperforate Anus Anorectal Malformation Anal Atresia Anorectal Malformations Congenital Atresia Of Anus Congenital Or Infantile Occlusion Of Anus Anal Stenosis Arm
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Enlarged Vestibular Aqueduct DFNB4 Neurosensory Nonsyndromic Recessive Deafness 4 Enlarged Vestibular Aqueduct Syndrome Nsrd4 Autosomal Recessive Nonsyndromic Deafness 4 Dilated Vestibular Aqueduct Dva Enlarged Vestibular Aqueduct, Digenic Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct Large Vestibular Aqueduct Syndrome Deafness, Autosomal Recessive, 4 Deafness Neurosensory Autosomal Recessive 4 Eva Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4 Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct
Feingold Syndrome 1	Feingold Syndrome Oculodigitoesophagoduodenal Syndrome Oded Syndrome Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus Or Duodenum FGLDS1 Mmt Syndrome Brunner-Winter Syndrome Feingold Syndrome Type 1 Oded Moded Fglds Microcephaly-Digital Anomalies-Normal Intelligence Syndrome Moded Syndrome Oculo-Digito-Esophageal-Duodenal Syndrome Microcephaly, Mental Retardation, And Tracheoesophageal Fistula Syndrome Microcephaly And Digital Abnormalities With Normal Intelligence Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus, Or Duodenum Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula Syndrome Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Oculo-Digito-Esophagoduodental Syndrome Fs Mmt Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome Brunner-Winter Syndrome Type 1 Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus Or Duodenum Type 1 Fs1 Mmt Type 1 Moded Syndrome Type 1 Microcephaly-Digital Anomalies-Normal Intelligence Syndrome Type 1 Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome Type 1 Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome Type 1 Oded Syndrome Type 1 Oculo-Digito-Esophageal-Duodenal Syndrome Type 1 Feingold Syndrome, Type 1
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
Nasal Cavity Disease	Disorder Of Nasal Cavity
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Otopalatodigital Syndrome, Type I	Otopalatodigital Syndrome Type 1 Taybi Syndrome OPD1 Opd Syndrome 1 Oto-Palato-Digital Syndrome Type 1 Opd I Syndrome Oto-Palato-Digital Syndrome, Type I Otopalatodigital Syndrome Type I Opd Syndrome Cranioorodigital Syndrome Faciopalatoosseous Syndrome Fpo Opd Syndrome, Type 1 Otopalatodigital Syndrome 1
Papillorenal Syndrome	Renal Coloboma Syndrome Coloboma Of Optic Nerve With Renal Disease Renal-Coloboma Syndrome Optic Nerve Coloboma With Renal Disease Optic Coloboma, Vesicoureteral Reflux, And Renal Anomalies Renal-Coloboma Syndrome With Macular Abnormalities Congenital Anomalies Of The Kidney And Urinary Tract With Or Without Ocular Abnormalities Cakut With Or Without Ocular Abnormalities PAPRS Optic Coloboma, Vesicoureteral Reflux And Renal Anomalies Papillo-Renal Syndrome, Optic Nerve Coloboma With Renal Disease Coloboma-Ureteral-Renal Syndrome Oncr Optic Nerve Coloboma Renal Syndrome Rcs Papillo-Renal Syndrome Optic Coloboma Vesicoureteral Reflux And Renal Anomalies
Waardenburg'S Syndrome	Waardenburg Syndrome Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome Van Der Hoeve Halbertsona Waardenburg Syndrome Waardenburg Shah Syndrome Waardenburg, Types I And/Or Ii Mende Syndrome Waardenburgs Syndrome Waardenburg Syndrome, Type 4a
Branchiooculofacial Syndrome	Branchio-Oculo-Facial Syndrome BOFS Bof Syndrome Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome Branchial Clefts With Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, And Premature Aging Branchial Clefts With Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct And Premature Aging Bofs Syndrome Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome
Nose Disease	Nose Diseases Disorder Of The Nose Nasal Disorder Abnormality Of The Nose
Fraser Syndrome 1	Fraser Syndrome Cryptophthalmos With Other Malformations Cryptophthalmos Syndrome FRASRS1 Cryptophthalmos-Syndactyly Syndrome Fraser-Francois Syndrome Cyclopism Meyer-Schwickerath'S Syndrome Ulrich-Feichtiger Syndrome Cryptophthalmos Syndactyly Syndrome Fraser'S Syndrome Meyer-Schwickerath Syndrome Ullrich-Feichtiger Syndrome
Orofacial Cleft	Cleft, Orofacial
Pallister-Hall Syndrome	PHS Hypothalamic Hamartomas Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly Hypothalamic Hamartoblastoma Syndrome Hamartoma Of The Hypothalamus Pallister Hall Syndrome Hall-Pallister Syndrome Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly Hamartoma, Hypothalamic
Heart Septal Defect	Septal Defect Heart Septal Defects Cardiac Septal Defects Congenital Septal Defect Of Heart
Spinocerebellar Ataxia, X-Linked 3	Scax3 X-Linked Spinocerebellar Ataxia 3 X-Linked Ataxia-Deafness Syndrome X-Linked Spinocerebellar Ataxia Type 3 Ataxia-Deafness Syndrome, X-Linked Spinocerebellar Ataxia X-Linked Type 3 Ataxia-Deafness Syndrome X-Linked X-Linked Ataxia-Hearing Loss Syndrome Spinocerebellar Ataxia, X-Linked, 3
Spinocerebellar Ataxia, X-Linked 4	Scax4 X-Linked Spinocerebellar Ataxia 4 X-Linked Ataxia-Dementia Syndrome X-Linked Spinocerebellar Ataxia Type 4 Ataxia-Dementia Syndrome, X-Linked Spinocerebellar Ataxia X-Linked Type 4 Ataxia-Dementia Syndrome X-Linked Spinocerebellar Ataxia, X-Linked, 4
Branchiootorenal Syndrome	Branchio-Oto-Renal Syndrome Bor Syndrome Branchiootorenal Dysplasia Melnick-Fraser Syndrome Branchiootorenal Spectrum Disorders Branchio-Otorenal Dysplasia Branchio Oto Renal Syndrome Branchiootorenal/Branchiootic Syndrome Bo Syndrome Bor Bos Branchio-Otorenal Syndrome Branchiootic Syndrome Branchiootorenal Syndrome Branchiootic Syndrome 1
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
Autosomal Dominant Intellectual Developmental Disorder 31	Autosomal Dominant Non-Syndromic Intellectual Disability 31 Autosomal Dominant Mental Retardation 31 Mrd31
Esotropia	Convergence In Manifest Squint Crossed Eyes Internal Strabismus Convergent Concomitant Strabismus Convergent Squint Convergent Strabismus Cross-Eye
Branchiootic Syndrome	Bo Syndrome Branchiootic Dysplasia Bor Bo Syndrome 1 Bos1 Branchiootic Syndrome 1
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism Undescended Testicle Undescended Testis Cryptorchism Undescended Testicles CRYPTO Impaired Testicular Descent Cryptosporidiosis Retained Testis Unilateral Cryptorchidism Unilateral Undescended Testis Nondescent Unilateral Testicle Unilateral Cryptorchism Ectopic Testis, Unilateral Bilateral Cryptorchidism Bilateral Cryptorchism Bilateral Nondescent Testicle Bilateral Undescended Testes Bilateral Ectopic Testes
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
Townes-Brocks Syndrome	Townes Syndrome Renal-Ear-Anal-Radial Syndrome Anus, Imperforate, With Hand, Foot And Ear Anomalies Imperforate Anus-Hand, Foot And Ear Anomalies Syndrome Rear Syndrome Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs Tbs Deafness, Sensorineural, With Imperforate Anus And Hypoplastic Thumbs Imperforate Anus With Hand, Foot And Ear Anomalies Anal-Ear-Renal-Radial Malformation Syndrome Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome Imperforate Anus-Hand And Foot Anomalies Syndrome Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome Sensorineural Hearing Loss With Imperforate Anus And Hypoplastic Thumbs
Peters-Plus Syndrome	Krause-Kivlin Syndrome Peters Plus Syndrome Peters Anomaly Irido-Corneo-Trabecular Dysgenesis PTRPLS Peters Anomaly With Short-Limb Dwarfism Peters Anomaly-Short Limb Dwarfism Syndrome Peters Anomaly With Short Limb Dwarfism Peters Congenital Glaucoma Krause-Van Schooneveld-Kivlin Syndrome Peters' Plus Syndrome Peters'-Plus Syndrome Anomaly Peters
Patau Syndrome	Trisomy 13 Complete Trisomy 13 Syndrome Trisomy 13 Syndrome D1 Trisomy Patau'S Syndrome Complete Trisomy 13 Chromosome 13, Trisomy 13 Complete D Trisomy Syndrome Bartholin-Patau Syndrome Chromosome 13 Duplication D1 Trisomy Syndrome D>1< Trisomy Syndrome Patau Chromosome 13 Trisomy Abnormal Autosomes 13
Chromosome 22q11.2 Deletion Syndrome, Distal	22q11.2 Deletion Syndrome Autosomal Dominant Opitz G/Bbb Syndrome Catch22 Cayler Cardiofacial Syndrome Conotruncal Anomaly Face Syndrome Digeorge Syndrome Sedlackova Syndrome Shprintzen Syndrome Velocardiofacial Syndrome 22q11.2 Distal Deletion Syndrome Distal 22q11.2 Microdeletion Syndrome 22q11.2ds Vcfs Velo-Cardio-Facial Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Chromosome 22q11.2 Deletion Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Deletion 22q11.2 Syndrome 22q11ds Catch 22 Digeorge Sequence Microdeletion 22q11.2 Monosomy 22q11 Takao Syndrome Distal Del(22)(Q11.2) Distal Monosomy 22q11.2 Catch 22 Syndrome Chromosome Deletion Syndrome 22q11.2, Distal
Physical Disorder	Physical Illness
Chromosomal Deletion Syndrome
Congenital Ptosis	Congenital Blepharoptosis Congenital Eyelid Ptosis
Jacobsen Syndrome	Chromosome 11q Deletion Syndrome Partial 11q Monosomy Syndrome Jacobsen Distal 11q Deletion Syndrome JBS 11q Partial Monosomy Syndrome Chromosome 11q Deletion 11q Deletion 11q Monosomy Deletion 11q Monosomy 11q Partial Monosomy 11q 11q Deletion Disorder 11q Deletion Syndrome 11q Terminal Deletion Disorder 11q- Deletion Syndrome 11q23 Deletion Disorder Jacobsen Thrombocytopenia 11q Terminal Deletion Syndrome Del(11)(Q23.3) Del(11)(Qter) Distal Deletion 11q Distal Monosomy 11q Monosomy 11qter Telomeric Deletion 11q Paris-Trousseau Thrombocytopenia
Leukodystrophy, Hypomyelinating, 5	Hypomyelination And Congenital Cataract HLD5 Hypomyelination-Congenital Cataract Syndrome Hypomyelinating Leukodystrophy 5 Hcc Hypomyelination And Congenital Cataract: Hcc Hypomyelination - Congenital Cataract Hypomyelination With Congenital Cataract
Duane Retraction Syndrome	Stilling-Turk-Duane Syndrome Duane'S Syndrome Duane Syndrome Isolated Duane Retraction Syndrome Co-Contractive Retraction Syndrome Duane Anomaly, Isolated Ocular Retraction Syndrome Drs Durs
Renal Hypodysplasia/Aplasia 1	Renal Agenesis Renal Adysplasia Renal Aplasia RHDA1 Hereditary Renal Aplasia Hra Hereditary Urogenital Adysplasia Hypodysplasia/Aplasia, Renal, Type 1 Congenital Absence Of Kidneys Syndrome Congenital Absence Of Kidney Aplastic Kidney
Septooptic Dysplasia	Septo-Optic Dysplasia De Morsier Syndrome Growth Hormone Deficiency With Pituitary Anomalies SOD Pituitary Hormone Deficiency, Combined, 5 Septo-Optic Dysplasia Spectrum Septo-Optic Dysplasia With Growth Hormone Deficiency Pituitary Hormone Deficiency, Combined 5 Hypopituitarism And Septooptic 'Dysplasia' GHDPA CPHD5 Dysplasia, Septo-Optic Kallmann Syndrome
Waardenburg Syndrome, Type 1	Waardenburg Syndrome Type 1 WS1 Waardenburg Syndrome Type I Waardenburg Syndrome With Dystopia Canthorum Waardenburg'S Syndrome Type 1 Waardenburg Syndrome 1 Waardenburg Syndrome, Type I Waardenburg Syndrome
Velocardiofacial Syndrome	Shprintzen Syndrome VCFS Chromosome 22q11.2 Deletion Syndrome Vcf Syndrome Shprintzen Vcf Syndrome Vcf-Velocardiofacial Syndrome Velo-Cardio-Facial Syndrome Digeorge Syndrome 22q11 Deletion Syndrome Conotruncal Anomaly Face Syndrome
Mowat-Wilson Syndrome	MOWS Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease Hirschsprung Disease-Mental Retardation Syndrome Mowat-Wilson Syndrome Due To Monosomy 2q22 Hirschsprung Disease Mental Retardation Syndrome Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease Hirschsprung Disease - Intellectual Disability Syndrome Hirschsprung Disease Intellectual Disability Syndrome Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease Mws Hirschsprung Disease-Intellectual Disability Syndrome Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22) Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22 Mowat-Wilson Syndrome Due To 2q22 Microdeletion Mowat-Wilson Syndrome Due To Del(2)Q(22) Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation
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
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
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
Disorder Of Sexual Development	Disorder Of Sex Development Disorders Of Sex Development Sex Development Disorder Sex Differentiation Disease Dsd Sex Differentiation Disorders
Chromosome 16p13.3 Deletion Syndrome, Proximal	Rubinstein-Taybi Syndrome Broad Thumb-Hallux Syndrome Chromosome 16p13.3 Deletion Syndrome Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion Rubinstein Syndrome Broad Thumbs-Halluces Syndrome Rsts Rubinstein-Taybi Deletion Syndrome Rsts Deletion Syndrome Proximal Chromosome 16p13.3 Deletion Syndrome 16p13.3 Deletion Syndrome Broad Thumbs And Great Toes, Characteristic Facies, And Intellectual Disability Rts
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
Sotos Syndrome	Cerebral Gigantism SOTOS Chromosome 5q35 Deletion Syndrome Sotos Syndrome 1, Formerly Sotos1, Formerly Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development Sotos Sequence Sotos' Syndrome Sotos1 Sotos Syndrome 1
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive	Split Hand-Foot Malformation 1 With Sensorineural Hearing Loss SHFM1D Deafness, Congenital, With Split Hands And Feet Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss Congenital Deafness With Split Hands And Feet Split Hand-Split Foot-Deafness Syndrome Split Hand-Split Foot-Hearing Loss Syndrome Congenital Deafness And Split Hands And Feet Split-Hand/Foot Malformation, Type 1 With Sensorineural Hearing Loss Split-Hand-Foot Malformation With Sensorineural Hearing Loss
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]
Wolf-Hirschhorn Syndrome	Pitt-Rogers-Danks Syndrome WHS Chromosome 4p16.3 Deletion Syndrome Wittwer Syndrome 4p- Syndrome Pitt Syndrome 4p Deletion Syndrome Distal Deletion 4p Distal Monosomy 4p Telomeric Deletion 4p Prds 4p Syndrome Chromosome 4p Syndrome Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation Wolf Syndrome Chromosome 4p Deletion Syndrome Chromosome 4p Monosomy Del Syndrome Monosomy 4p Partial Monosomy 4p Chromosome 4 Short Arm Deletion
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Cornelia De Lange Syndrome	De Lange Syndrome Brachmann De Lange Syndrome Brachmann-De Lange Syndrome Cdls Bdls Typus Degenerativus Amstelodamensis
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Hirschsprung'S Disease Congenital Megacolon Congenital Intestinal Aganglionosis Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Williams-Beuren Syndrome	Williams Syndrome WBS Wms Deletion 7q11.23 Monosomy 7q11.23 Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb Fanconi Schlesinger Syndrome Beuren Syndrome Elfin Facies Syndrome Elfin Facies With Hypercalcemia Hypercalcemia-Supravalvar Aortic Stenosis Ws
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary
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

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 (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS21310	Chd3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-111303	CHIC35	Inhibitor	/	Unkown
HY-RS02612	CHD7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17534	Chd7 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23991	Chd7 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CHD7	RGD	RGD:1311921
Macaca mulatta	CHD7	VGNC	VGNC:71065
Felis catus	CHD7	VGNC	VGNC:60848
Canis familiaris	CHD7	VGNC	VGNC:39205
Mus musculus	CHD7	MGD	MGI:2444748
Bos taurus	CHD7	VGNC	VGNC:27282
Others	CHD7	NCBI