COL2A1 - collagen type II alpha 1 chain Gene

Also Known as AOM; ANFH; SEDC; STL1; COL11A3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1280

About COL2A1

Cytogenetic location: 12q13.11 Genomic coordinates (GRCh38): 12:47,972,967-48,006,212 (from NCBI)

This gene has 9 transcripts (splice variants), 246 orthologues, 37 paralogues and is associated with 120 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes the alpha-1 chain of type II Collagen, a fibrillar Collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this Collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]

COL2A1 Products (2)

mRNA	Protein	Name
NM_001844.5	NP_001835.3	collagen alpha-1(II) chain isoform 1 precursor
NM_033150.3	NP_149162.2	collagen alpha-1(II) chain isoform 2 precursor

COL2A1 Protein Structure

VWC

Collagen

COLFI

0
300
600
900
1200
1487 a.a.

Protein Preferred Names	Protein Names
collagen alpha-1(II) chain	alpha-1 type II collagen

Recombinant COL2A1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75333	Collagen alpha-1(II) chain/COL2A1 Protein, Human (HEK293, His)	P02458-2 (D1242-L1487)	≥ 95%, as determined by reducing SDS-PAGE.

COL2A1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81047	Collagen II Antibody	WB, IHC-P, IF-Tissue	Human
HY-P81047A	Collagen II Antibody(YA3550)	WB, IHC-P, IF-Tissue	Human, Mouse, Rat
HY-P83918	Collagen II Antibody (YA3615)	WB, ICC/IF, FC, ELISA	Human
HY-P83918A	Collagen II Antibody (YA3615)(PBS only)	WB, ICC/IF, FC, ELISA	Human
HY-P86154	Collagen II Antibody (YA5846)	WB, IHC-P, ICC/IF, IP, ELISA	Human

Related Diseases

Diseases	Alias
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Spondylometaphyseal Dysplasia Strudwick Syndrome Dappled Metaphysis Syndrome Semd, Strudwick Type Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type Smed, Strudwick Type Smd Smed Strudwick Type SEMDSTWK Smed, Type I Semdc Smed Type 1 Spondyloepimetaphyseal Dysplasia Strudwick Type Sed Strudwick Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type Smed Type I Spondyloepiphyseal Dysplasia Congenita With Dappled Metaphyses Dysplasia, Spondyloepimetaphyseal, Strudwick Type Dysplasia, Spondylometaphyseal
Kniest Dysplasia	Kniest Syndrome Metatropic Dwarfism, Type Ii Kniest Chondrodystrophy Metatropic Dysplasia Type Ii Swiss Cheese Cartilage Dysplasia KD Ks Metatropic Dwarfism Type Ii Dysplasia, Kniest
Stickler Syndrome, Type I	Stickler Syndrome 1 Stickler Syndrome Type 1 STL1 Aom Stickler Syndrome, Type 1 Stickler Syndrome, Vitreous Type 1 Stickler Syndrome, Membranous Vitreous Type Arthroophthalmopathy, Hereditary Progressive Arthro-Ophthalmopathy Hereditary Progressive Stickler Syndrome Membranous Vitreous Type Stickler Syndrome Type I Stickler Syndrome Vitreous Type 1
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Multiple Epiphyseal Dysplasia, Beighton Type EDMMD Epiphyseal Dysplasia, Multiple, With Myopia And Deafness Multiple Epiphyseal Dysplasia With Myopia And Deafness Multiple Epiphyseal Dysplasia-Myopia-Deafness Syndrome Multiple Epiphyseal Dysplasia-Myopia-Hearing Loss Syndrome Multiple Epiphyseal Dysplasia With Myopia And Conductive Deafness Dysplasia, Epiphyseal, Multiple, With Myopia And Deafness
Spondyloepiphyseal Dysplasia Congenita	SEDC Sed Congenita Spondyloepiphyseal Dysplasia, Congenital Type Late Spondyloepiphyseal Dysplasia Sed, Congenital Type Congenital Spondyloepiphyseal Dysplasia Spranger-Wiedemann Disease Spondyloepiphyseal Dysplasia Congenital Type Dysplasia, Spondyloepiphyseal, Congenita Spondyloepiphyseal Dysplasia, Congenita Spondyloepiphyseal Dysplasia Tarda, X-Linked
Achondrogenesis, Type Ii	Achondrogenesis Type Ii ACG2 Achondrogenesis, Langer-Saldino Type Achondrogenesis Type 2 Chondrogenesis Imperfecta Achondrogenesis, Type Ib, Formerly Achondrogenesis, Type Ii Or Hypochondrogenesis Achondrogenesis 2 Acg-Ii Achondrogenesis-Hypochondrogenesis Type Ii Achondrogenesis Langer-Saldino Type Achondrogenesis-Hypochondrogenesis, Type Ii Hypochondrogenesis
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	PLSD-T PLSDT Platyspondylic Dysplasia, Torrance Type Lethal Short-Limbed Platyspondylic Dwarfism, Torrance Type Thanatophoric Dysplasia, Torrance Variant Platyspondylic Skeletal Dysplasia, Torrance Type Torrance Type Platyspondylic Dysplasia Platyspondylic Dysplasia, Torrance-Luton Type Platyspondylic Lethal Skeletal Dysplasia Torrance Type Lethal Short-Limbed Platyspondylic Dwarfism Torrance Type Thanatophoric Dysplasia Torrance Variant Platyspondylic Chondrodysplasia, Torrance-Luton Type Plsd-Tl Dysplasia, Skeletal, Platyspondylic, Torrance Type
Spondyloepiphyseal Dysplasia, Stanescu Type	SEDSTN Sed, Stanescu Type Spondyloepiphyseal Dysplasia Stanescu Type Sed Stanescu Type
Czech Dysplasia	Czech Dysplasia, Metatarsal Type Spondyloepiphyseal Dysplasia With Precocious Osteoarthritis Czech Dysplasia Metatarsal Type Sed With Metatarsal Shortening Spondyloepiphyseal Dysplasia With Metatarsal Shortening Pseudorheumatoid Dysplasia, Progressive, With Hypoplastic Toes Pseudorheumatoid Dysplasia Progressive, With Hypoplastic Toes Progressive Pseudorheumatoid Dysplasia With Hypoplastic Toes Spondyloarthropathy With Short Third And Fourth Toes CZECHD Pseudorheumatoid Dysplasia Progressive With Hypoplastic Toes Dysplasia, Czech
Osteoarthritis With Mild Chondrodysplasia	Namaqualand Hip Dysplasia OSCDP Nhd Mild Spondyloepiphyseal Dysplasia Due To Col2a1 Mutation With Early-Onset Osteoarthritis Osteoarthritis, With Mild Chondrodysplasia Degenerative Polyarthritis
Legg-Calve-Perthes Disease	Perthes Disease LCPD Coxa Plana Legg-Perthes Disease Juvenile Osteochondrosis Of Hip And Pelvis Pseudocoxalgia Legg-Calvé-Perthes Disease Lcp Calve - Perthes' Disease Juvenile Osteochond-Hip/Pelvis Juvenile Osteochondrosis Of Hip And/Or Pelvis Legg-Calve-Perthes Symptom Osteochondrosis Of Legg-Calve-Perthes Perthe'S Disease Legg-Calve-Perthes Syndrome Osteochondritis Deformans Calve-Perthes Disease Aseptic Necrosis Of The Capital Femoral Epiphysis Osteochondrosis Of The Capital Femoral Epiphysis Legg-Calvé-Perthes Syndrome Avascular Necrosis Of The Capital Femoral Epiphysis
Stickler Syndrome, Type I, Nonsyndromic Ocular	Autosomal Dominant Rhegmatogenous Retinal Detachment Stickler Syndrome, Type I, Predominantly Ocular Stickler Syndrome, Atypical Rhegmatogenous Retinal Detachment Autosomal Dominant DRRD Stickler Syndrome 1 Non-Syndromic Ocular STL1O Stickler Syndrome Atypical Stickler Syndrome Predominantly Ocular Wagner Syndrome 2 Rhegmatogenous Retinal Detachment, Autosomal Dominant
Spondyloperipheral Dysplasia	Spondyloperipheral Dysplasia With Short Ulna Spondyloperipheral Dysplasia-Short Ulna Syndrome SPD Dysplasia, Spondyloperipheral Spondyloperipheral Dysplasia Short Ulna
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	VPED Vitreoretinopathy, With Phalangeal Epiphyseal Dysplasia
Avascular Necrosis Of Femoral Head, Primary, 1	ANFH1 Ischemic Necrosis Of Femoral Head Osteonecrosis Of Femoral Head Femoral Head, Avascular Necrosis Of Anfh Femoral Head, Aseptic Necrosis Of Avascular Necrosis Of The Femoral Head Aseptic Necrosis Of Femoral Head Avascular Necrosis Of Femoral Head Necrosis, Avascular, Femoral Head Avascular Necrosis Of Femur Head Femur Head Necrosis
Familial Avascular Necrosis Of The Femoral Head	Familial Osteonecrosis Of The Femoral Head Primary Avascular Necrosis Of The Femoral Head Familial Avascular Necrosis Of Femoral Head Avascular Necrosis Of Femoral Head, Primary
Hypochondrogenesis	Achondrogenesis Type Ii/Hypochondrogenesis
Stickler Syndrome	Arthroophthalmopathy Hereditary Arthro-Ophthalmo-Dystrophy Hereditary Arthro-Ophthalmopathy Stickler Dysplasia Hereditary Progressive Arthroophthalmopathy Stickler Syndrome, Type 1
Retinal Detachment	Retinal Detachments Rhegmatogenous Retinal Detachment Ruptured Retina With Detachment Retinal Hole With Detachment
Type Ii Collagen Disorders	Collagenopathy Type 2 Alpha 1 Col2a1 Cartilage Collagen Collagen Ii Collagenopathy, Type 2 Alpha 1
Type 2 Collagen-Related Bone Disorder
Spondylometaphyseal Dysplasia, Algerian Type	Spondylometaphyseal Dysplasia With Severe Genu Valgum Spondylometaphyseal Dysplasia, Schmidt Type Spondylometaphyseal Dysplasia Algerian Type Japanese Type Spondylometaphyseal Dysplasia Schmid Metaphyseal Dysostosis Spondylometaphyseal Dysplasia Schmidt Type Metaphyseal Chondrodysplasia Schmid Type
Dysspondyloenchondromatosis
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Weissenbacher-Zweymuller Syndrome Wzs Pierre Robin Syndrome With Fetal Chondrodysplasia OSMEDA Weissenbacher-Zweymüller Syndrome Heterozygous Osmed Stickler Syndrome, Type 3 Osmed, Heterozygous Pierre Robin Syndrome With Fetal Chondrodysplasia Stickler Syndrome, Nonocular Type, Formerly Stickler Syndrome, Type Iii, Formerly Stl3, Formerly Piere-Robin Syndrome Pierre Robin Malformation Heterozygous Otospondylomegaepiphyseal Dysplasia Autosomal Dominant Otospondylomegaepiphyseal Dysplasia Ad Osmed Stickler Syndrome Type 3 Stickler Syndrome, Non-Ocular Type Stickler-Like Syndrome Stickler Syndrome 3 Stickler Syndrome Non-Ocular Type Stickler Syndrome Type Iii Stl3 Weissenbacher-Zweymueller Syndrome Stickler Syndrome, Type Iii Pierre Robin Syndrome Dysplasia, Otospondylomegaepiphyseal, Autosomal Dominant
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Osmed Otospondylomegaepiphyseal Dysplasia Chondrodystrophy With Sensorineural Deafness Nance-Insley Syndrome Nance-Sweeney Chondrodysplasia OSMEDB Insley-Astley Syndrome Osmed Syndrome Mega-Epiphyseal Dwarfism Weissenbacher-Zweymuller Syndrome, Formerly Wzs, Formerly Nance Sweeney Chondrodysplasia Oto-Spondylo-Mega-Epiphyseal Dysplasia Oto-Spondylo-Megaepiphyseal Dysplasia Megaepiphyseal Dwarfism
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Primary Bone Dysplasia	Primary Osteodysplasia Primary Skeletal Dysplasia
Heart, Malformation Of
Stargardt Disease 1	Fundus Flavimaculatus STGD1 Retinal Dystrophy, Early-Onset Severe Macular Dystrophy With Flecks, Type 1 Stargardt'S Disease Stgd Macular Degeneration, Juvenile Macular Degeneration Juvenile FFM Juvenile Macular Degeneration Macular Dystrophy With Flecks Type 1 Early Onset And Severe Retinal Dystrophy
Stargardt Disease	Stargardt Disease 1 Stargardt Macular Dystrophy Stargardt Disease-1 Juvenile Onset Macular Degeneration Stargardt Macular Degeneration Juvenile Macular Degeneration Macular Dystrophy With Flecks, Type 1 Stgd Fundus Flavimaculatus Stargardt 1 Stargardts Disease
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
Spondylometaphyseal Dysplasia, Corner Fracture Type	SMDCF Spondylometaphyseal Dysplasia, Sutcliffe Type Spondylometaphyseal Dysplasia Corner Fracture Type Spondylometaphyseal Dysplasia, 'Corner Fracture' Type Spondylometaphyseal Dysplasia Sutcliffe Type Sutcliffe Type Of Spondylometaphyseal Dysplasia Spondylometaphyseal Dysplasia - Sutcliffe Type Smd, Corner Fractures Type Smd, Sutcliffe Type Sutcliffe Smd Dysplasia, Spondylometaphyseal, Corner Fracture Type
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Achondrogenesis	Achondrogenesis Syndrome
Spondyloepimetaphyseal Dysplasia	Dysplasia, Spondyloepimetaphyseal
Multiple Epiphyseal Dysplasia	Med Polyepiphyseal Dysplasia Edm Epiphyseal Dysplasia, Multiple, 1 Epiphyseal Dysplasia, Multiple, 2 Epiphyseal Dysplasia, Multiple, 3 Epiphyseal Dysplasia, Multiple, 4 Epiphyseal Dysplasia, Multiple, 5 Epiphyseal Dysplasia, Multiple Edm1 Edm2 Edm3 Edm4 Edm5 Epiphyseal Dysplasia, Fairbank Type Epiphyseal Dysplasia, Ribbing Type Multiple Epiphyseal Dysplasia, Autosomal Dominant Multiple Epiphyseal Dysplasia, Autosomal Recessive Rmed Dysplasia, Epiphyseal, Multiple Osteochondrodysplasias
Avascular Necrosis	Avn
Multiple Enchondromatosis, Maffucci Type	Maffucci Syndrome Chondrodysplasia With Hemangioma Chondroplasia Angiomatosis Enchondromatosis With Hemangiomata Hemangiomatosis Chondrodystrophica Kast Syndrome Multiple Angiomas And Endochondromas Dyschondrodysplasia With Hemangiomas Enchondromatosis Type Ii Enchondromatosis With Multiple Cavernous Hemangiomas Dyschondroplasia And Cavernous Hemangioma Hemangiomata With Dyschondroplasia
Mccune-Albright Syndrome	Mass Syndrome Polyostotic Fibrous Dysplasia MAS Fibrous Dysplasia Of Bone Albright Syndrome Mass Phenotype Overlap Connective Tissue Disease Mccune Albright Syndrome Osteitis Fibrosa Disseminata OCTD Albright'S Disease Pfd Pofd Albright'S Syndrome Mccune-Albright Syndrome, Somatic, Mosaic Albright'S Disease Of Bone Albright'S Syndrome With Precocious Puberty Albright-Mccune-Sternberg Syndrome Albright-Sternberg Syndrome Fibrous Dysplasia With Pigmentary Skin Changes And Precocious Puberty Gonadotropin-Independent Female-Limited Sexual Precocity Fibrous Dysplasia Polyostotic Fibrous Dysplasia, Polyostotic
Vitreous Syneresis	Vitreous Degeneration
Osteoarthritis	Osteoarthrosis Degenerative Joint Disease Hypertrophic Arthritis Arthropathy Degenerative Polyarthritis Degenerative Arthritis Osteoarthrosis And Allied Disorder Arthritis, Degenerative Oa Osteoarthritis Deformans Osteoarthrosis Deformans Kashin-Beck Disease
Osteochondrosis	Osteochondritis Apophysitis Epiphysitis Osteochondritis Juvenilis Epiphyseal Necrosis Juvenile Osteochondrosis Of Tibial Tubercle
Developmental Dysplasia Of The Hip 1	Acetabular Dysplasia Developmental Dysplasia Of The Hip DDH1 Hip Dysplasia, Developmental Ddh Hip Dysplasia, Congenital Cdh Congenital Hip Dislocation Nos
Diastrophic Dysplasia	Diastrophic Dwarfism DTD Dd Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant Dysplasia, Diastrophic Diastrophic Dysplasia Variant
Scoliosis
Marshall Syndrome	MRSHS Deafness, Myopia, Cataract, Saddle Nose-Marshall Type Periodic Fever, Aphthous Stomatitis, Pharyngitis And Adenitis Pfapa Syndrome Pfapa Marshall Syndrome With Periodic Fever Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome
Cartilage Disease	Cartilage Diseases Cartilage Cartilage Disorder Chondropathy Cartilage Disorders
Collagen Disease	Collagen Diseases Collagen Disorder
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Spondyloepiphyseal Dysplasia Chst3-Related Skeletal Dysplasia Humerospinal Dysostosis Spondyloepiphyseal Dysplasia, Omani Type Chondrodysplasia With Multiple Dislocations SEDCJD Hsd Cdmd Humero-Spinal Dysostosis Kozlowski Celermajer Tink Syndrome Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type Larsen Syndrome, Recessive Type Humero-Spinal Dysostosis With Congenital Heart Disease Omani Type Sed Chst3 Deficiency Chst3-Related Dysplasia Recessive Larsen Syndrome Autosomal Recessive Larsen Syndrome Sed With Luxations, Chst3 Type Sed, Omani Type Sdcd, Chst3 Type Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type Sed Omani Type Spondyloepiphyseal Dysplasia Omani Type Larsen Syndrome, Autosomal Recessive Mucopolysaccharidosis Iv Spondyloepiphyseal Dysplasia, Congenita
Arthritis	Inflammatory Joint Disease Inflammatory Disorder Of Joint
Brachydactyly
Campomelic Dysplasia	Acampomelic Campomelic Dysplasia Camptomelic Dysplasia Campomelic Dysplasia With Autosomal Sex Reversal Cmpd CMD1 Cmpd1 Cmpd1/Sra1 Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal Campomelic Dwarfism Campomelic Syndrome Dysplasia, Campomelic Chronic Myeloproliferative Disorder Familial Dilated Cardiomyopathy
Arthropathy	Ankylosis Of Ankle And Foot Joint Ankylosis Of Forearm Joint Ankylosis Of Hand Joint Ankylosis Of Joint Of Ankle And/Or Foot Ankylosis Of Joint Of Forearm Ankylosis Of Joint Of Hand Ankylosis Of Joint Of Lower Leg Ankylosis Of Joint Of Multiple Sites Ankylosis Of Joint Of Pelvic Region And Thigh Ankylosis Of Joint Of Shoulder Region Ankylosis Of Joint Of Upper Arm Ankylosis Of Lower Leg Joint Ankylosis Of Multiple Joints Ankylosis Of Upper Arm Joint Infectious Arthropathy Joint Ankylosis Of The Ankle And Foot Joint Ankylosis Of The Ankle And/Or Foot Joint Ankylosis Of The Forearm Joint Ankylosis Of The Hand Joint Ankylosis Of The Lower Leg Joint Ankylosis Of The Pelvic Region And Thigh Joint Ankylosis Of The Shoulder Region Joint Ankylosis Of The Upper Arm Joint Diseases Joint Disease Arthropathy Associated With Infection
Coxa Vara
Vitreoretinopathy
Synovitis
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Autosomal Recessive Spondyloepiphyseal Dysplasia Tarda
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Autosomal Dominant Spondyloepiphyseal Dysplasia Tarda
Relapsing Polychondritis	Polychondropathia Polychondritis, Relapsing Chondromalacia, Systemic Chronic Atrophic Polychondritis Recurrent Polychondritis Polychondritis Relapsing
Bone Disease	Bone Diseases Skeletal Disease Skeletal Disorder Disorder Of Skeletal System
Spinal Stenosis	Lumbar Spinal Stenosis Cervical Spinal Stenosis Spinal Stenosis Of Lumbar Region Spinal Stenosis In Cervical Region Spinal Canal Stenosis
Fibrochondrogenesis	Fbcg1 Fbcg2 Fibrochondrogenesis-1 Fibrochondrogenesis-2 Fibrochondrogenesis 1 Fibrochondrogenesis 2
Pseudoachondroplasia	PSACH Pseudoachondroplastic Dysplasia Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome Spondyloepiphyseal Dysplasia, Pseudoachondroplastic Pseudoachondroplastic Spondyloepiphyseal Dysplasia Spondyloepiphyseal Dysplasia Pseudoachondroplastic
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Retinal Perforation	Retinal Break Retinal Perforations Retinal Dialysis Retinal Tear Retinal Break Nos Ruptured Retina
Pectus Carinatum	Carinatum Deformity Of The Chest
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
Brittle Bone Disorder	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Osteopsathyrosis Lobstein Disease Oi Vrolik Disease Lobstein'S Disease Lobstein'S Syndrome Vrolik'S Disease Porak And Durante Disease Glass Bone Disease Osteogenesis Imperfecta, Dominant Perinatal Lethal Osteogenesis Imperfecta, Recessive Perinatal Lethal Brittle Bone Syndrome Oi - [Osteogenesis Imperfecta] Ossium Fragility Osteitis Fragilitans Bony Fragility Blue Sclera With Fragility Of Bone And Deafness White Blue Sclera - Fragility Of Bone - Deafness
Metaphyseal Dysplasia	Bakwin-Krida Syndrome Pyle'S Disease Pyle-Cohn Syndrome
Tracheomalacia	Congenital Tracheomalacia Congenital Major Airway Collapse Tracheomalacia, Congenital Type 1 Tracheomalacia
Metatropic Dysplasia	Metatropic Dwarfism MTD Metatropic Dysplasia Type 1 Metatropic Dysplasia, Nonlethal Dominant
Osteonecrosis	Bone Necrosis Avascular Necrosis Of Bone Aseptic Necrosis Necrosis Of Bone Nos Aseptic Osteonecrosis Aseptic Necrosis Of Bone, Site Unspecified Aseptic Or Avascular Bone Necrosis Aseptic Necrosis Of Bone Necrotic Bone Necrotizing Bone Spontaneous Osteonecrosis Osteoradionecrosis
Kashin-Beck Disease	Kaschin-Beck Disease Kaschin-Beck Disease, Unspecified Site Kashin-Bek Disease Urov Disease
Bone Development Disease
Scheuermann Disease	Scheuermann'S Disease Spinal Osteochondrosis Juvenile Osteochondrosis Of Spine Familial Scheuermann Disease Familial Scheuermann Juvenile Kyphosis Familial Spinal Osteochondrosis Scheuermann Juvenile Kyphosis Juvenile Osteochondritis Of The Spine Juvenile Osteochondrosis Of Scheurermann Scheuermann'S Kyphosis Sherman'S Disease Juvenile Kyphosis Scheuermann Kyphosis [X]Spinal Osteochondrosis, Unspecified
Macroglossia	Congenital Macroglossia Enlarged Tongue Giant Tongue Acquired Macroglossia Nos Congenital Hypertrophy Of Tongue
Tracheal Disease	Tracheal Diseases Tracheal Anomaly Tracheal Disorders
Achondroplasia	Achondroplastic Dwarfism ACH Osteosclerosis Congenita Achondroplastic Physique Chondrodystrophia Dwarf, Achondroplastic Achondroplastic Short Stature Congenital Osteosclerosis
Clubfoot	Congenital Talipes Equinovarus Congenital Clubfoot Congenital Equinovarus Equinovarus Deformity Of Foot Club Foot
Bone Structure Disease
Enchondromatosis, Multiple, Ollier Type	Ollier Disease Enchondromatosis Dyschondroplasia Osteochondromatosis Multiple Cartilaginous Enchondroses Multiple Enchondromatosis Enchondromatosis With Haemangiomata Enchondromatosis, Multiple Kast'S Syndrome Ollier'S Syndrome Enchondromatosis Multiple ENCHOM Maffucci Disease Olliers Disease Hereditary Multiple Exostoses Chondromatosis
Marfan Syndrome	MFS Mfs1 Marfan'S Syndrome Marfan Syndrome Type 1 Marfan Syndrome, Type I Mass Phenotype Contractural Arachnodactyly Mass Syndrome Octd Overlap Connective Tissue Disease Marfanoid Hypermobility Syndrome Marfan Disease
Simpson-Golabi-Behmel Syndrome, Type 1	Simpson-Golabi-Behmel Syndrome Type 1 Simpson-Golabi-Behmel Syndrome SGBS1 Golabi-Rosen Syndrome Simpson Dysmorphia Syndrome Sgbs Bulldog Syndrome Dgsx Sdys Dysplasia Gigantism Syndrome, X-Linked X-Linked Dysplasia Gigantism Syndrome Dgsx Golabi-Rosen Syndrome Sara Angers Syndrome Sgb Syndrome Mental Retardation-Overgrowth Syndrome Simpson Dysplasia Syndrome Simpson Syndrome Simpson-Golabi-Behmel Syndrome 1 Dysplasia Gigantism Syndrome X-Linked
Ehlers-Danlos Syndrome	Eds Cutis Hyperelastica Elastic Skin Ehlers-Danlos Syndromes Ed Syndrome Ehlers Danlos Syndrome Ehlers Danlos Disease Eds - [Ehlers-Danlos Syndrome]
Hypochondroplasia	HCH Hypochondrodysplasia Chondrogenesis Imperfecta Hypochondroplastic Dwarfism Hypochondroplastic Short Stature
Kohler'S Disease	Kohler Disease Aseptic Necrosis Of The Tarsal Bone Osteochondrosis Of The Tarsal Bone Juvenile Osteochondrosis Of Foot Kohler'S Disease Of The Tarsal Navicular Kohler'S Osteochondrosis Of The Tarsal Navicular Navicular Osteochondrosis Obsolete: Osteochondritis Of Tarsal/Metatarsal Bone Osteochondritis Of Tarsal/Metatarsal Bone Avascular Necrosis Of The Tarsal Bone Larsen-Johansson Syndrome
Refractive Error	Refractive Errors
Fibrochondrogenesis 1	FBCG1 Fibrochondrogenesis, Type 1
Dyssegmental Dysplasia, Silverman-Handmaker Type	DDSH Silverman-Handmaker Type Dyssegmental Dysplasia Dyssegmental Dysplasia Silverman-Handmaker Type Dyssegmental Dwarfism Silverman-Handmaker Type Dyssegmental Dwarfism, Silverman-Handmaker Type Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type Anisospondylic Camptomicromelic Dwarfism Silverman-Handmaker Type Dysplasia, Dyssegmental, Silverman-Handmaker Type
Metachondromatosis	METCDS MC
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Acromesomelic Dysplasia	Acromesomelic Dwarfism Dysplasia, Acromesomelic Acromesomelic Dysplasia Hunter-Thompson Type
Bone Deterioration Disease
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Thanatophoric Dysplasia, Type I	Thanatophoric Dysplasia Thanatophoric Dwarfism Thanatophoric Dysplasia Type 1 TD1 Td Thanatophoric Short Stature Thanatophoric Dwarfism Type 1 Thanatophoric Dysplasia Type I Platyspondylic Lethal Skeletal Dysplasia, San Diego Type Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type Skeletal Dysplasia, San Diego Type Plsd San Diego Type Thanatophoric Dwarfism 1 Dwarfism Thanatophoric Dwarf, Thanatophoric Thanatophoric Dysplasia 1 Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type Platyspondylic Lethal Skeletal Dysplasia San Diego Type Thanatophoric Dwarf Thanatophoric Dwarfism Or Short Stature Thanatophoric Dwarfism Syndrome Td - [Thanatophoric Dwarfism]
Exostosis	Osteophyte Exostoses Orbital Exostosis Exostosis Of Orbit Bone Spur Bony Outgrowth Swimmer'S Exostosis Osteophytes External Exotoses Cartilaginous Exostosis
Osteochondritis Dissecans	Osteochondritis Ocd Konig Disease
Epidermolysis Bullosa Simplex	Ebs Epidermolysis Bullosa Intraepidermic Epidermolytic Epidermolysis Bullosa
Fibrosis Of Extraocular Muscles, Congenital, 1	Fibrosis Of Extraocular Muscles, Congenital, 3b CFEOM1 Blepharoptosis With Absent Eye Movements Congenital Fibrosis Of The Extraocular Muscles 1 Congenital Fibrosis Of Extraocular Muscles Type 1 Fibrosis Ophthalmoplegia, Congenital Feom1 Locus Congenital Ophthalmoplegia Feom1 CFEOM3B Fibrosis, Extraocular Muscles, Congenital, Type 1 Congenital Fibrosis Of The Extraocular Muscles
Brachyolmia	Brachyrachia
Degenerative Disc Disease	Intervertebral Disc Degeneration Cervical Disc Degenerative Disorder Cervical Disc Degenerative Disease Lumbar Disc Degeneration Vertebral Disc Disease Degeneration Of Lumbar Intervertebral Disc Intervertebral Disc Disorder Discogenic Disease
Periosteal Chondrosarcoma	Juxtacortical Chondrosarcoma
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
Spondyloepiphyseal Dysplasia, Nishimura Type	SEDN Spondyloepiphyseal Dysplasia Nishimura Type
Rheumatoid Arthritis	RA Arthritis, Rheumatoid Rheumatoid Arthritis, Susceptibility To Arthritis Or Polyarthritis, Rheumatic Atrophic Arthritis Rheumatism Arthritis Rheumatoid Polyarthritis
Ischemic Bone Disease
Spondylocarpotarsal Synostosis Syndrome	SCT Spondylocarpotarsal Syndrome Vertebral Fusion With Carpal Coalition Congenital Scoliosis With Unilateral Unsegmented Bar Congenital Synspondylism Spondylocarpotarsal Synostosis Synspondylism, Congenital Scoliosis, Congenital, With Unilateral Unsegmented Bar Scoliosis, Congenital With Unilateral Unsegmented Bar Synspondylism Congenital Sct Syndrome Synspondylism
Vitreous Disease	Disorder Of Vitreous Body
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Peripheral Retinal Degeneration	Peripheral Degeneration Of Retina Degeneration Of Retina Nos Reticular Retinal Degeneration Retinal Degeneration
Retinal Degeneration	Degeneration Of Retina
Isolated Growth Hormone Deficiency, Type Ia	Ighd Ia Primordial Dwarfism Isolated Growth Hormone Deficiency Type Ia Sexual Ateleiotic Dwarfism Pituitary Dwarfism I IGHD1A Illig-Type Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, Type Ia Congenital Ighd Type Ia Congenital Isolated Gh Deficiency Type Ia Congenital Isolated Growth Hormone Deficiency Type Ia Pituitary Dwarfism 1 Growth Hormone Deficiency, Isolated, Autosomal Recessive Autosomal Recessive Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 1a Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated Autosomal Recessive Illig Type Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, 1a Growth Hormone Deficiency Isolated Autosomal Recessive Dwarfism, Primordial Dwarfism
Orofacial Cleft	Cleft, Orofacial
Larsen Syndrome	LRS Larsen Syndrome, Dominant Type Dominant Larsen Syndrome Autosomal Dominant Larsen Syndrome Larsens Syndrome
Brachydactyly, Type C	Brachydactyly Type C BDC Brachydactyly Haws Type Brachydactyly, Haws Type Brachydactyly C
Acromesomelic Dysplasia 2a	Chondrodysplasia, Grebe Type Acromesomelic Dysplasia, Grebe Type Grebe Chondrodysplasia Amdg Grebe Syndrome AMD2A Grebe Dysplasia Achondrogenesis, Brazilian Achondrogenesis, Type Ii, Formerly Acromesomelic Dysplasia-2a Achondrogenesis Type Ii Brazilian Achondrogenesis Acromesomelic Chondrodysplasia, Grebe Type
Chondromalacia	Chondromalacia, Unspecified Site Chondromalacia Nos
Acromesomelic Dysplasia 1	Acromesomelic Dysplasia, Maroteaux Type Amdm Acromesomelic Dysplasia 1, Maroteaux Type AMD1 St. Helena Dysplasia Acromesomelic Dysplasia-1 Acromesomelic Dysplasia Maroteaux Type Acromesomelic Dwarfism Maroteux Type Dysplasia, Acromesomelic, Type 1, Maroteaux Acromesomelic Dysplasia Hunter-Thompson Type
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Mental Retardation, X-Linked 3 Methylmalonic Acidemia With Homocystinuria, Type Cblx MAHCX Intellectual Developmental Disorder, X-Linked 3 Xlid3 Mrx3 Methylmalonic Acidemia And Homocysteinemia Cblx Type Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblx Methylmalonic Aciduria With Homocystinuria, Type Cblx Methylmalonic Acidemia And Homocysteinemia, Cblx Type Methylmalonic Aciduria And Homocysteinemia, Cblx Type Methylmalonic Aciduria And Homocysteinemia , Cblx Type Mental Retardation, X-Linked, Type 3
Bone Inflammation Disease	Osteitis Bone Inflammatory Disease Inflammatory Disorder Of Bone
Laryngomalacia	Congenital Laryngomalacia Congenital Laryngeal Stridor Laryngomalacia Congenital Floppy Epiglottis
Osteogenesis Imperfecta, Type Ii	Vrolik Type Of Osteogenesis Imperfecta Osteogenesis Imperfecta Type 2 OI2 Oi, Type Ii Osteogenesis Imperfecta Congenita Oic Osteogenesis Imperfecta Type Ii Lethal Osteogenesis Imperfecta Oi Type 2 Osteogenesis Imperfecta Congenita Perinatal Lethal Form Osteogenesis Imperfecta Congenita, Perinatal Lethal Form Perinatal Lethal Osteogenesis Imperfecta Congenita Perinatally Lethal Oi Osteogenesis Imperfecta 2 Oi-Ii Oi-Iia Oi Type Iia Osteogenesis Imperfecta Type Iia Osteogenesis Imperfecta Type Ii Autosomal Dominant Oi Type Ii Osteogenesis Imperfecta, Dominant Perinatal Lethal
Cleidocranial Dysplasia	Cleidocranial Dysostosis CLCD Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly CCD Marie-Sainton Disease Dysplasia Cleidocranial Dento-Osseous Dysplasia Marie-Sainton Syndrome Dysplasia, Cleidocranial
Crouzon Syndrome	Crouzon Craniofacial Dysostosis Craniofacial Dysostosis Cfd1 Craniofacial Dysostosis Type 1 Crouzon Disease Crouzon'S Disease Craniofacial Dysostosis, Type I Craniofacial Dysarthrosis Craniofacial Dysostosis Syndrome CS Craniofacial Dysostosis Type I Vogt Cephalosyndactyly
Diamond-Blackfan Anemia 1	Aase Syndrome DBA1 Erythrogenesis Imperfecta Aase-Smith Syndrome Ii Dba Blackfan-Diamond Syndrome Bds Anemia, Congenital Hypoplastic, Of Blackfan And Diamond Anemia, Congenital Erythroid Hypoplastic Red Cell Aplasia, Pure, Hereditary Aregenerative Anemia, Chronic Congenital Rps19-Related Diamond-Blackfan Anemia Chronic Congenital Aregenerative Anemia Congenital Erythroid Hypoplastic Anemia Congenital Hypoplastic Anemia Of Blackfan And Diamond Pure Hereditary Red Cell Aplasia Anemia, Diamond-Blackfan, Type 1 Anemia, Diamond-Blackfan Aase Smith Syndrome 2 Familial Hypoplastic Anaemia With Malformations Constitutional Pure Red Cell Aplasia
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
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-108065A	3'-Sialyllactose sodium	Inhibitor	99.89%	Unkown
HY-RS02981	COL2A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-108065	3'-Sialyllactose	Inhibitor	/	Unkown
HY-RS18559	Col2a1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25041	Col2a1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	COL2A1	MGD	MGI:88452
Felis catus	COL2A1	VGNC	VGNC:61058
Bos taurus	COL2A1	VGNC	VGNC:27564
Macaca mulatta	COL2A1	VGNC	VGNC:71295
Canis familiaris	COL2A1	VGNC	VGNC:39471
Rattus norvegicus	COL2A1	RGD	RGD:2375
Others	COL2A1	NCBI