OFD1 - OFD1 centriole and centriolar satellite protein Gene

Also Known as RP23; 71-7A; SGBS2; CXorf5; JBTS10

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8481

About OFD1

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:13,714,505-13,773,738 (from NCBI)

This gene has 22 transcripts (splice variants), 182 orthologues and is associated with 12 phenotypes. Ubiquitous expression in lymph node (RPKM 12.1), thyroid (RPKM 9.1) and 25 other tissues.

Summary

This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. [provided by RefSeq, Aug 2016]

OFD1 Products (3)

mRNA	Protein	Name
NM_001330209.2	NP_001317138.1	centriole and centriolar satellite protein OFD1 isoform 2
NM_001330210.2	NP_001317139.1	centriole and centriolar satellite protein OFD1 isoform 3
NM_003611.3	NP_003602.1	centriole and centriolar satellite protein OFD1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	17761535	GOA
enables molecular adaptor activity	IMP IMP: Inferred from mutant phenotype	19800048	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17761535	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	33934390	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in centriole	IDA IDA: Inferred from direct assay	20230748	GOA
located in centrosome	IDA IDA: Inferred from direct assay	21399614	GOA
is active in ciliary basal body	IDA IDA: Inferred from direct assay	33934390	GOA
located in ciliary basal body	IDA IDA: Inferred from direct assay	20230748	GOA
located in cilium	IDA IDA: Inferred from direct assay	20230748	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

Protein Preferred Names	Protein Names
centriole and centriolar satellite protein OFD1 oral-facial-digital syndrome 1 protein	Joubert syndrome type 10

Protein Preferred Names

Protein Names

centriole and centriolar satellite protein OFD1

oral-facial-digital syndrome 1 protein

Joubert syndrome type 10

OFD1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	OFD1	O75665	C2CD3	Homo sapiens	Q4AC94	Anti Tag CoIP	26496610
Intra	OFD1	O75665	ATG13	Homo sapiens	O75143	Anti Bait CoIP	33368531
Intra	OFD1	O75665	RUVBL1	Homo sapiens	Q9Y265	Pull Down	17761535
Intra	OFD1	O75665	RUVBL1	Homo sapiens	Q9Y265	Y2H	17761535
Intra	OFD1	O75665	PLK1	Homo sapiens	P53350	BioID	26638075
Intra	OFD1	O75665	PLK1	Homo sapiens	P53350	Y2H	21988832
Intra	OFD1	O75665	DYNLL1	Homo sapiens	P63167	Anti Tag CoIP	26638075
Intra	OFD1	O75665	PCM1	Homo sapiens	Q15154	Anti Tag CoIP	26496610
Intra	OFD1	O75665	DYNLL2	Homo sapiens	Q96FJ2	TAP	27173435
Intra	OFD1	O75665	PCM1	Homo sapiens	Q15154	Anti Tag CoIP	26638075
Intra	OFD1	O75665	DYNLL1	Homo sapiens	P63167	BioID	26638075
Intra	OFD1	O75665	SDCCAG8	Homo sapiens	Q86SQ7	BioID	26638075
Intra	OFD1	O75665	PCM1	Homo sapiens	Q15154	BioID	26638075
Intra	OFD1	O75665	DYNLL1	Homo sapiens	P63167	TAP	27173435
Intra	OFD1	O75665	PCM1	Homo sapiens	Q15154	Anti Tag CoIP	24089205
Intra	OFD1	O75665	NME7	Homo sapiens	Q9Y5B8	BioID	26638075
Intra	OFD1	O75665	NME7	Homo sapiens	Q9Y5B8	Y2H	21988832

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Orofaciodigital Syndrome I	OFD1 Orofaciodigital Syndrome 1 Oral-Facial-Digital Syndrome, Type I Oral-Facial-Digital Syndrome 1 Ofds I Papillon-Leage And Psaume Syndrome Papillon-Leage-Psaume Syndrome Oral-Facial-Digital Syndrome Type 1 Orofaciodigital Syndrome Type 1 Orofaciodigital Syndromes Orofaciodigital Syndrome Type I Oral-Facial-Digital Syndrome Type I Ofd Syndrome 1 Ofds 1 Oral Facial Digital Syndrome 1 Oral Facial Digital Syndrome Type 1 Papillon-League-Psaume Syndrome Ofdi Ofdsi Orofaciodigital Syndrome, Type I
Retinitis Pigmentosa 23	RP23 Retinitis Pigmentosa-23 Retinitis Pigmentosa, Type 23 Rp23 Gene
Joubert Syndrome 10	JBTS10 Joubert Syndrome, Type 10
Simpson-Golabi-Behmel Syndrome, Type 2	Simpson-Golabi-Behmel Syndrome Type 2 SGBS2 Simpson-Golabi-Behmel Syndrome 2
Orofaciodigital Syndrome Iii	Sugarman Syndrome OFD3 Orofaciodigital Syndrome 3 Ofds Iii Oral Facial Digital Syndrome Type 3 Oral-Facial-Digital Syndrome Type 3 Oral-Facial-Digital Syndrome, Type Iii Ofd Syndrome 3 Ofds 3 Oral Facial Digital Syndrome 3 Orofaciodigital Syndrome Type 3
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Spondyloepiphyseal Dysplasia Tarda X-Linked Spondyloepiphyseal Dysplasia Tarda SEDT Sed Tarda, X-Linked Spondyloepiphyseal Dysplasia, Late Spondyloepiphyseal Dysplasia Tarda X-Linked Sed X Linked Spondyloepiphyseal Dysplasia Tarda X-Linked Spondyloepiphyseal Dysplasia Late Onset Spondyloepiphyseal Dysplasia Sed Tarda X-Linked Sed X-Linked Sedt Dysplasia, Spondyloepiphyseal, Tarda Spondyloepiphyseal Dysplasia
Orofaciodigital Syndrome Vi	OFD6 Varadi-Papp Syndrome Varadi Syndrome Joubert Syndrome With Orofaciodigital Defect Orofaciodigital Syndrome Type 6 Orofaciodigital Syndrome 6 Oral-Facial-Digital Syndrome, Type Vi Ofds Vi Polydactyly, Cleft Lip/Palate Or Lingual Lump, And Psychomotor Retardation Polydactyly Cleft Lip Palate Psychomotor Retardation Oral-Facial-Digital Syndrome Type 6 Polydactyly-Cleft Lip/Palate-Psychomotor Retardation Syndrome Polydactyly - Cleft Lip/Palate - Psychomotor Retardation Váradi Syndrome Váradi-Papp Syndrome Joubert Syndrome With Oral-Facial-Digital Syndrome Oral-Facial-Digital Syndrome 6 Joubert-Orofaciodigital Syndrome Orofaciodigital Syndrome, Type Vi
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
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
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
Orofaciodigital Syndrome	Oral-Facial-Digital Syndrome Orofaciodigital Syndromes Ofd Oral Facial Digital Syndromes Oral-Facial-Digital Syndromes Dysplasia Linguofacialis Ofds Oro-Facio-Digital Syndrome Orodigitofacial Dysostosis Orodigitofacial Syndrome Oral Facial Digital Syndrome Orofaciodigital Syndrome I
Polymicrogyria	Pmg
Hydrocephalus, Congenital, 1	Hydrocephaly Ventriculomegaly Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 HYC1 Congenital Non-Communicating Hydrocephalus Hydrocephalus, Nonsyndromic, Autosomal Recessive 1, Formerly Congenital Obstructive Hydrocephalus Hydrocephalus, Non-Syndromic, Autosomal Recessive 1 Hydrocephalus
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Cerebellar Agenesis
Orofaciodigital Syndrome Iv	OFD4 Baraitser-Burn Syndrome Orofaciodigital Syndrome 4 Ofd Syndrome With Tibial Defects Mohr-Majewski Syndrome Ofds Iv Oral-Facial-Digital Syndrome, Type Iv Ofd Syndrome, Baraitser-Burn Type Oral-Facial-Digital Syndrome Type 4 Ofd Syndrome 4 Ofds 4 Oral Facial Digital Syndrome 4 Oral Facial Digital Syndrome Type 4 Orofaciodigital Syndrome With Tibial Dysplasia Orofaciodigital Syndrome Type 4 Ofd Syndrome Baraitser-Burn Type Oral-Facial-Digital Syndrome 4 Orofaciodigital Syndrome, Type Iv
Orofaciodigital Syndrome V	OFD5 Thurston Syndrome Orofaciodigital Syndrome 5 Polydactyly, Postaxial, With Median Cleft Of Upper Lip Ofds V Oral-Facial-Digital Syndrome, Type V Orofaciodigital Syndrome, Thurston Type Orofaciodigital Syndrome Thurston Type Oral-Facial-Digital Syndrome 5 Polydactyly Postaxial With Median Cleft Of Upper Lip Ofd Syndrome 5 Ofds 5 Oral Facial Digital Syndrome 5 Oral Facial Digital Syndrome Type 5 Orofaciodigital Syndrome Type 5 Oral-Facial-Digital Syndrome Type 5 Papillon-Leage And Psaume Syndrome Orofaciodigital Syndrome, Type V
Bardet-Biedl Syndrome 4	BBS4 Bardet-Biedl Syndrome, Type 4
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	GDACCF Developmental Disabilities
Lissencephaly	Pachygyria Broad Gyri Of Cerebrum Large Gyri Of Cerebrum Macrogyria
Porencephaly
Meckel Syndrome, Type 1	Meckel-Gruber Syndrome Meckel Syndrome Dysencephalia Splanchnocystica Meckel Syndrome 1 MKS1 Mks Gruber Syndrome Meckel-Gruber Syndrome, Type 1 Mes Dysencephalia Splachnocystica Meckel Gruber Syndrome Meckel Syndrome Type 1
Ciliary Dyskinesia, Primary, 4	Primary Ciliary Dyskinesia 4 CILD4 Ciliary Dyskinesia, Primary, 4, With Or Without Situs Inversus Primary Ciliary Dyskinesia 4 With Or Without Situs Inversus Primary Ciliary Dyskinesia, 4
Ciliary Dyskinesia, Primary, 8	Primary Ciliary Dyskinesia 8 CILD8 Ciliary Dyskinesia, Primary, 8, With Or Without Situs Inversus Primary Ciliary Dyskinesia 8 With Or Without Situs Inversus
Apraxia	Apraxias Dyspraxia
Brachydactyly
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Cone-Rod Dystrophy, X-Linked, 1	CORDX1 X-Linked Cone-Rod Dystrophy 1 Cod1 Cone Dystrophy X-Linked 1 X-Linked Cone Dystrophy 1 Cone-Rod Dystrophy X-Linked 1 Cone-Rod Dystrophy, X-Linked 1 Dystrophy, Cone-Rod, X-Linked, Type 1 Cone Dystrophy, X-Linked, 1
Joubert Syndrome 3	JBTS3 Joubert Syndrome With Ocular Defect Joubert Syndrome With Ocular Anomalies Js-O Joubert Syndrome With Retinopathy Joubert Syndrome-3 Joubert Syndrome, Type 3
Cranioectodermal Dysplasia	Sensenbrenner Syndrome Levin Syndrome 1 Ced Levin Syndrome Dysplasia, Cranioectodermal
Joubert Syndrome 5	JBTS5 Joubert Syndrome, Type 5
Dermoid Cyst Of Ovary	Dermoid Cyst Ovarian Dermoid Cyst Teratoma, Ovarian
Renal-Hepatic-Pancreatic Dysplasia	Ivemark'S Syndrome Ivemark Ii Syndrome Renohepaticopancreatic Dysplasia
Coach Syndrome 1	Coach Syndrome Joubert Syndrome With Congenital Hepatic Fibrosis Gentile Syndrome Joubert Syndrome With Hepatic Defect Js-H COACH1 Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis Cerebellar Vermis Hypoplasia-Oligophrenia-Congenital Ataxia-Coloboma-Hepatic Fibrosis Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Ataxia Congenital, Coloboma, And Hepatic Fibrosis Cerebellar Vermis Hypo/Aplasia Oligophrenia Congenital Ataxia Ocular Coloboma And Hepatic Fibrosis
Ciliary Dyskinesia, Primary, 1	CILD1 Pcd Primary Ciliary Dyskinesia 1 Kartagener Syndrome Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus Immotile Cilia Syndrome Ics Polynesian Bronchiectasis Primary Ciliary Dyskinesia 1 With Or Without Situs Inversus Ics1 Immotile Cilia Syndrome 1 Primary Ciliary Dyskinesia KTGS Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome Kartagener Type Primary Ciliary Dyskinesia Kartagener Type Siewert Syndrome Immotile Cilia Dyskinesia, Ciliary, Primary, Type 1 Ciliary Motility Disorders
Coloboma Of Optic Nerve	Morning Glory Disc Anomaly Coloboma Of Optic Disc Morning Glory Syndrome Ectasic Coloboma Coloboma Of Optic Papilla Congenital Coloboma Of The Optic Nerve Optic Nerve Coloboma Optic Nerve Head Pits, Bilateral Congenital Volubilis Syndrome COLON Coloboma Of Optic Disc, Unspecified Eye Congenital Coloboma Of Optic Disc Optic Disk Coloboma
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Majewski Syndrome SRTD6 Srps2a Short Rib-Polydactyly Syndrome, Majewski Type Polydactyly With Neonatal Chondrodystrophy, Type Ii Short Rib-Polydactyly Syndrome Type Iia Short Rib-Polydactyly Syndrome Type 2 Short Rib-Polydactyly Syndrome Type Ii Short Rib-Polydactyly Syndrome, Type Ii Srps, Type Ii Short Rib-Polydactyly Syndrome, Type Iia Polydactyly With Neonatal Chondrodystrophy Type 2 Srps Type 2 Short Rib-Polydactyly Syndrome Majewski Type Polydactyly With Neonatal Chondrodystrophy Type Ii Short Rib-Polydactyly Syndrome 2a Srps Type Ii
Senior-Loken Syndrome 1	Senior-Loken Syndrome Renal Dysplasia And Retinal Aplasia Renal-Retinal Syndrome Loken-Senior Syndrome Juvenile Nephronophthisis With Leber Amaurosis SLSN1 Senior-Loken Syndrome-1 Loken Senior Syndrome Senior Loken Syndrome Renal Dysplasia Retinal Aplasia Nephronophthisis With Retinal Dystrophy Renal Dysplasia-Retinal Aplasia Syndrome Slsn
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Acrocallosal Syndrome	ACLS Schinzel Acrocallosal Syndrome Joubert Syndrome 12 Schinzel Syndrome 1 Acrocallosal Syndrome, Schinzel Type Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum Acs Absence Of Corpus Callosum With Unusual Facial Appearance, Mental Deficiency, Duplication Of The Halluces And Polydactyly Hallux Duplication Postaxial Polydactyly And Absence Of Corpus Callosum JBTS12 Acrocallosal Syndrome
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Autosomal Recessive Polycystic Kidney Disease Arpkd Polycystic Kidney Disease, Autosomal Recessive Polycystic Kidney And Hepatic Disease 1 Pkhd1 PKD4 Polycystic Kidney Disease 4 With Or Without Hepatic Disease Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney Disease, Infantile Type Polycystic Kidney, Autosomal Recessive Pkd3, Formerly Polycystic Kidney Disease 4, With Or Without Hepatic Disease Arpkd/Chf Ar-Pkd Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease Infantile Polycystic Kidney Disease Type I Pkd3 Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease Polycystic Kidney Disease 3, Autosomal Dominant
Asphyxiating Thoracic Dystrophy	Jeune Thoracic Dystrophy Jeune Syndrome Asphyxiating Thoracic Dysplasia Short-Rib Thoracic Dysplasia With Or Without Polydactyly Thoracic Pelvic Phalangeal Dystrophy Asphyxiating Thoracic Chondrodystrophy Atd Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune Thoracic Dysplasia Thoracic Asphyxiant Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Short-Rib Thoracic Dysplasia Without Polydactyly Asphyxiating Thoracic Dystrophy Of The Newborn Asphyxiating Thorax Dystrophy
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Ellis-Van Creveld Syndrome	Chondroectodermal Dysplasia Mesoectodermal Dysplasia EVC Ellis Van Creveld Syndrome Mesodermic Dysplasia Ellis-Van Creveld Dysplasia
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Kartagener Syndrome	Kartagener'S Syndrome
Polycystic Liver Disease	Autosomal Dominant Polycystic Liver Disease Isolated Polycystic Liver Disease Pcld Congenital Cystic Liver Disease Congenital Hepatic Cyst Fibrocystic Liver Disease Isolated Autosomal Dominant Polycystic Liver Disease Adpcld Liver Disease, Polycystic Multiple Cysts Of Liver Pld - [Polycystic Liver Disease] Polycystic Liver Disorder Polycystic Liver Congenital Polycystic Disease Of Liver Congenital Polycystic Liver Disease
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller Syndrome
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
Situs Inversus	Situs Inversus Viscerum Laterality Sequence Complete Transposition Siv
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Asphyxiating Thoracic Dystrophy 1 Jeune Syndrome SRTD1 Atd1 Asphyxiating Thoracic Dystrophy Of The Newborn Jatd Jeune Asphyxiating Thoracic Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Atd Asphyxiating Thoracic Dystrophy Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune'S Syndrome Thoracic Pelvic Phalangeal Dystrophy Jeune Thoracic Dystrophy
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]
Orofacial Cleft	Cleft, Orofacial
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
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
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
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
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
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09756	OFD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	OFD1	RGD	RGD:1562231
Canis familiaris	OFD1	VGNC	VGNC:44103
Felis catus	OFD1	VGNC	VGNC:63953
Bos taurus	OFD1	VGNC	VGNC:106852
Mus musculus	OFD1	MGD	MGI:1350328
Macaca mulatta	OFD1	VGNC	VGNC:75460
Others	OFD1	NCBI