COL1A1 - collagen type I alpha 1 chain Gene

Also Known as OI1; OI2; OI3; OI4; EDSC; CAFYD; EDSARTH1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1277

About COL1A1

Cytogenetic location: 17q21.33 Genomic coordinates (GRCh38): 17:50,184,101-50,201,631 (from NCBI)

This gene has 13 transcripts (splice variants), 252 orthologues, 37 paralogues and is associated with 114 phenotypes. Biased expression in gall bladder (RPKM 850.7), urinary bladder (RPKM 497.1) and 11 other tissues.

Summary

This gene encodes the pro-alpha1 chains of type I Collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming Collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

COL1A1 Products (1)

mRNA	Protein	Name
NM_000088.4	NP_000079.2	collagen alpha-1(I) chain preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IDA IDA: Inferred from direct assay	17211858	GOA
enables platelet-derived growth factor binding	IDA IDA: Inferred from direct assay	8900172	GOA
enables protease binding	IPI IPI: Inferred from physical interaction	19932771	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14749390	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in blood vessel development	IMP IMP: Inferred from mutant phenotype	17211858	GOA
involved in collagen biosynthetic process	IMP IMP: Inferred from mutant phenotype	15095409	GOA
involved in collagen fibril organization	IMP IMP: Inferred from mutant phenotype	14976317	GOA
involved in embryonic skeletal system development	IMP IMP: Inferred from mutant phenotype	18553566	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	20018240	GOA
involved in positive regulation of canonical Wnt signaling pathway	IDA IDA: Inferred from direct assay	20018240	GOA
involved in positive regulation of cell migration	IDA IDA: Inferred from direct assay	20018240	GOA
involved in positive regulation of epithelial to mesenchymal transition	IDA IDA: Inferred from direct assay	20018240	GOA
involved in protein localization to nucleus	IDA IDA: Inferred from direct assay	20018240	GOA
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	17489845	GOA
acts upstream of or within skeletal system development	IMP IMP: Inferred from mutant phenotype	8097422	GOA
involved in skeletal system development	IMP IMP: Inferred from mutant phenotype	1874719	GOA
involved in skin morphogenesis	IMP IMP: Inferred from mutant phenotype	17211858	GOA
involved in tooth mineralization	IMP IMP: Inferred from mutant phenotype	17118335	GOA
involved in visual perception	IMP IMP: Inferred from mutant phenotype	17557158	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of collagen type I trimer	IDA IDA: Inferred from direct assay	19932771	GOA
part of collagen type I trimer	IMP IMP: Inferred from mutant phenotype	14976317	GOA
part of collagen type I trimer	IPI IPI: Inferred from physical interaction	26848503	GOA
located in extracellular space	IMP IMP: Inferred from mutant phenotype	20603131	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

COL1A1 Protein Structure

VWC

Collagen

COLFI

0
300
600
900
1200
1464 a.a.

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

COL1A1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	COL1A1	P02452	FN1	Homo sapiens	P02751	Crosslink	26848503
Intra	COL1A1	P02452	FN1	Homo sapiens	P02751	FPS	25290767
Intra	COL1A1	P02452	KEAP1	Homo sapiens	Q14145	Y2H Prey Pooling	32296183
Intra	COL1A1	P02452	KEAP1	Homo sapiens	Q14145	Validated Y2H	32296183
Intra	COL1A1	P02452	KEAP1	Homo sapiens	Q14145	Y2H Array	32296183
Intra	COL1A1	P02452	COL1A2	Homo sapiens	P08123	Anti Tag CoIP	26848503
Intra	COL1A1	P02452	COL1A2	Homo sapiens	P08123	Crosslink	26848503
Cross	COL1A1	P02452	all3_aedae	Aedes aegypti	O01949	Solid Phase Assay	20015075
Cross	COL1A1	P02452	all3_aedae	Aedes aegypti	O01949	SPR	20015075

Cross: Cross-species interaction Intra: Intraspecies interaction

COL1A1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81227	Collagen I Antibody	WB, IHC-P	Human, Mouse, Rat, Rabbit
HY-P85777	Collagen I Antibody (YA5469)	ICC/IF, IHC-P	Human, Mouse, Rat
HY-P85909	Collagen I Antibody (YA5601)	IHC-P, WB, ICC/IF, ELISA	Human, Mouse, Rat
HY-P86101	Collagen I Antibody (YA5793)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Caffey Disease	Infantile Cortical Hyperostosis CAFYD Cortical Congenital Hyperostosis Caffey-Silverman Syndrome De Toni-Caffey Disease Hyperostosis Cortical Infantile Hyperostosis, Cortical, Congenital
Osteogenesis Imperfecta, Type I	Osteogenesis Imperfecta Type I OI1 Oi, Type I Osteogenesis Imperfecta Tarda Osteogenesis Imperfecta With Blue Sclerae Osteogenesis Imperfecta Type 1 Adair-Dighton Syndrome Mild Osteogenesis Imperfecta Non-Deforming Osteogenesis Imperfecta Oi Type 1 Van Der Hoeve Syndrome Classic Non-Deforming Oi With Blue Sclerae Osteogenesis Imperfecta 1 Oi-I Osteopenic Non-Fracture Syndrome Osteogenesis Imperfecta, Mild Osteogenesis Imperfecta Lobstein'S Disease
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	OIEDS1 Oieds Syndrome 1
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Arthrochalasis Multiplex Congenita Eds7a Ehlers-Danlos Syndrome Type 7a Ehlers-Danlos Syndrome, Arthrochalasia Type EDSARTH1 Eds Viia Eds Vii, Mutant Procollagen Type Arthrochalasia Ehlers-Danlos Syndrome Arthrochalasia Eds Aeds Ehlers-Danlos Syndrome, Type Viia Ehlers-Danlos Syndrome, Type Viia, Autosomal Dominant Ehlers-Danlos Syndrome Arthrochalasia Type 1 Eds Vii Ehlers-Danlos Syndrome Type 7 Eds Vii Mutant Procollagen Type Ehlers-Danlos Syndrome 7a Ehlers-Danlos Syndrome Arthrochalasic Type Ehlers-Danlos Syndrome Type Viia, Autosomal Dominant Eds Viib
Osteogenesis Imperfecta, Type Iii	Osteogenesis Imperfecta Type Iii OI3 Oi, Type Iii Osteogenesis Imperfecta Type 3 Oi Type Iii Oi Type 3 Progressive Deforming Osteogenesis Imperfecta Severe Osteogenesis Imperfecta Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae Progressively Deforming Osteogenesis Imperfecta With Normal Sclera Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae Progressively Deforming Oi Osteogenesis Imperfecta 3 Oi-Iii Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae
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
Osteogenesis Imperfecta, Type Iv	Osteogenesis Imperfecta Type 4 Osteogenesis Imperfecta Type Iv OI4 Oi, Type Iv Osteogenesis Imperfecta With Normal Sclerae Oi Type Iv Oi Type 4 Osteogenesis Imperfecta With Normal Sclera Common Variable Oi With Normal Sclerae Osteogenesis Imperfecta 4 Oi-Iv
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
Classic Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome, Classic Type Classical Ehlers-Danlos Syndrome Eds, Classic Type Ehlers-Danlos Syndrome Type 1 Ehlers-Danlos Syndrome Type 2 Classical Eds Ceds Ehlers-Danlos Syndrome, Type 2
Hypermobile Ehlers-Danlos Syndrome	Heds Ehlers-Danlos Syndrome Type 3 Ehlers-Danlos Syndrome Hypermobility Type Hypermobile Eds Joint Hypermobility Benign Joint Hypermobility Syndrome Eds Hypermobility Type Eds Type Iii Ehlers-Danlos Syndrome Type Iii Joint Hypermobility Syndrome Eds3 Ehlers-Danlos Syndrome, Hypermobility Type Eds Iii Eds-Ht
Asphyxia Neonatorum	Birth Asphyxia Postnatal Asphyxia Asphyxia - Birth Asphyxia, In Liveborn Infant Hypoxia Neonatorum Hypoxia, In Liveborn Infant Intrapartum Asphyxia Neonatal Asphyxia Newborn Asphyxia Asphyxia In Liveborn Infant Asphyxia Of Newborn Nos Perinatal Asphyxia Perinatal Hypoxia Newborn Asphyxiation
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
Ehlers-Danlos/Osteogenesis Imperfecta Syndrome	Eds/Oi Syndrome
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Eds Viib EDSARTH2 Ehlers-Danlos Syndrome, Type Viib, Autosomal Dominant Eds7b Ehlers-Danlos Syndrome Arthrochalasia Type 2 Ehlers-Danlos Syndrome Type 7b Ehlers-Danlos Syndrome 7b Ehlers-Danlos Syndrome, Arthrochalasia, Type 2
Epiphyseal Dysplasia, Multiple, 1	EDM1 Multiple Epiphyseal Dysplasia 1 Multiple Epiphyseal Dysplasia Type 1 Med1 Multiple Epiphyseal Dysplasia Comp-Related Polyepiphyseal Dysplasia Type 1 Multiple Epiphyseal Dysplasia, Comp-Related Epiphyseal Dysplasia Multiple 1 Epiphyseal Dysplasia, Multiple 1 Dysplasia, Epiphyseal, Multiple, Type 1
Dermatofibrosarcoma Protuberans	DFSP Dermatofibrosarcoma Giant Cell Fibroblastoma Metastatic Dermatofibrosarcoma Protuberans Familial Dermatofibrosarcoma Protuberans Darier-Ferrand Tumor Darier-Hoffmann Tumor
Dentinogenesis Imperfecta	Hereditary Opalescent Dentin Dentinogenesis Imperfecta Without Osteogenesis Imperfecta Dgi Capdepont Teeth Dgi Without Oi Di Non-Syndromic Dgi Non-Syndromic Dentinogenesis Imperfecta Opalescent Teeth Without Oi Opalescent Teeth Without Osteogenesis Imperfecta Opalescent Dentin
High Bone Mass Osteogenesis Imperfecta	High Bone Mass Oi
Blood Group, P1pk System	Blood Group, P1pk System, P Phenotype Blood Group, P1pk System, P Phenotype Nor Polyagglutination Syndrome Blood Group, P1pk System, P(2) Phenotype P1pk Blood Group System, P(2) Phenotype Blood Group System, P1pk
Primary Bone Dysplasia	Primary Osteodysplasia Primary Skeletal Dysplasia
Ehlers-Danlos Syndrome	Eds Cutis Hyperelastica Elastic Skin Ehlers-Danlos Syndromes Ed Syndrome Ehlers Danlos Syndrome Ehlers Danlos Disease Eds - [Ehlers-Danlos Syndrome]
Hypertelorism	Eyes Wide Apart Eyes Widely Set Hypertelorism Of Orbit Ocular Hypertelorism Orbital Separation Excessive
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Ehlers-Danlos Syndrome, Classic Type, 1	Ehlers-Danlos Syndrome, Type I EDSCL1 Ehlers-Danlos Syndrome Classic Type 1 Ehlers-Danlos Syndrome Type 1 Ehlers-Danlos Syndrome, Type I, Formerly Eds1, Formerly Ehlers-Danlos Syndrome, Severe Classic Type, Formerly Eds I, Formerly Ehlers-Danlos Syndrome, Gravis Type, Formerly Ehlers-Danlos Syndrome, Type 1 Type I Ehlers-Danlos Syndrome Eds1 Eds I Ehlers-Danlos Syndrome, Gravis Type Ehlers-Danlos Syndrome, Severe Classic Type Ehlers-Danlos Syndrome 1 Ehlers-Danlos, Classic Syndrome, Type 1 Ehlers-Danlos Syndrome Type 2
Phenylketonuria	Phenylalanine Hydroxylase Deficiency PKU Pah Deficiency Folling Disease Maternal Phenylketonuria Phenylketonurias Oligophrenia Phenylpyruvica Hyperphenylalaninemia, Non-Pku Mild Folling'S Disease Phenylalaninemia Mild Phenylketonuria Mild Pku Variant Pku Variant Phenylketonuria Mpku Deficiency Disease, Phenylalanine Hydroxylase Phenylketonuria, Maternal Phenylalanine Hydroxylase Deficiency Disease Hyperphenylalaninemic Embryopathy Maternal Pku Maternal Hyperphenylalaninemia Phenylketonuric Embryopathy Hyperphenylalaninemia HPA Non-Phenylketonuria Hyperphenylalaninemia NON-PKU HPA Phenylketonuria Maternal Classical Phenylketonuria Hyperphenylalaninaemia Pku - [Phenylketonuria]
Collagen Disease	Collagen Diseases Collagen Disorder
Myositis Ossificans	Myisitis Ossificans Ossification - Muscle
Otosclerosis	Otospongiosis
Van Buchem Disease	Hyperostosis Corticalis Generalisata Hyperphosphatasemia Tarda VBCH Sost-Related Sclerosing Bone Dysplasia Endosteal Hyperostosis Autosomal Recessive Sclerosteosis Endosteal Hyperostosis, Autosomal Recessive Hyperotosis Corticalis Generalisata Familiaris Sost Sclerosing Bone Dysplasia Smith-Lemli-Opitz Syndrome
Hyperostosis	Hypertrophy Of Bone Bone Hypertrophy Bone Thickening Periosteum Thickening
Aortic Aneurysm, Familial Thoracic 4	AAT4 Faa4 Aortic Aneurysm/Aortic Dissection And Patent Ductus Arteriosus Familial Aortic Aneurysm 4 Non-Syndromic Thoracic Aortic Aneurysms And Dissection Taad Thoracic Aortic Aneurysms And Dissection Thoracic Aortic Aneurysms And Dissections Aneurysm, Aortic, Thoracic, Familial, Type 4
Syringomyelia	Hydromyelia
Osteoporosis, Juvenile	Idiopathic Juvenile Osteoporosis Idiopathic Osteoporosis Juvenile Osteoporosis Ijo
Aortic Aneurysm, Familial Thoracic 1	Thoracic Aortic Aneurysm Annuloaortic Ectasia Familial Thoracic Aortic Aneurysm And Aortic Dissection Familial Aortic Dissection Familial Taad Familial Thoracic Aortic Aneurysm Congenital Aneurysm Of Ascending Aorta Familial Aortic Aneurysm Familial Thoracic Aortic Aneurysm And Dissection Aortic Aneurysm, Thoracic AAT1 Faa1 Aortic Dissection, Familial Aortic Aneurysm, Familial Thoracic Aneurysm, Thoracic Aortic Faa Ftaad Taa Taad Cystic Medial Necrosis Of Aorta Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection Aortic Aneurysm Thoracic Familial Aortic Aneurysms Aneurysm, Aortic, Thoracic, Familial, Type 1 Aneurysm Of Thoracic Aorta Intrathoracic Aneurysm Thoracic Aorta Aneurysm Thoracic Aortic Aneurysm Without Rupture Thoracic Aneurysm Thorax Arterial Aneurysm Thoracic Artery Aneurysm Thoracic Arterial Aneurysm Thorax Aneurysm Thorax Aortic Aneurysm Dissection Of Thoracic Aorta
X-Linked Alport Syndrome	Nephropathy And Deafness, X-Linked
Sclerosteosis	Cortical Hyperostosis With Syndactyly Sost Cortical Hyperostosis-Syndactyly Syndrome
Scoliosis
Pelvic Organ Prolapse	Rectal Prolapse Pelvic Organ Prolapse, Susceptibility To, 1 Pelvic Organ Prolapse, Susceptibility To Prolapse Of Vagina And Rectum Vaginal Prolapse Pelvic Organ Prolapse 1 Procidentia, Rectum Prolapse Of Rectal Mucosa Procidentia Of Rectum Rectal Mucosa Prolapse Rectum Prolapse Procidentia Rectum Rp - [Rectal Prolapse] Male Proctocele Male Rectocele Proctoptosis Female Genital Prolapse Female Prolapse Incompetence Of Pelvic Fundus Relaxation Of Perineum Deficiency Of Perineum
Oral Submucous Fibrosis	Oral Submucosal Fibrosis, Including Of Tongue Osmf Oral Cavity Submucous Fibrosis Oral Submucosal Fibrosis Submucosal Fibrosis
Axenfeld-Rieger Syndrome	Axenfeld Syndrome Rieger Syndrome Rieger Anomaly Axenfeld Anomaly Anomaly, Rieger'S Hagedoom Syndrome Rgs - Rieger Syndrome Rieger'S Anomaly Goniodysgenesis Hypodontia Iridogoniodysgenesis With Somatic Anomalies Ars Axenfeld And Rieger Anomaly Axra Axrs Rieger Eye Malformation Sequence
Bone Development Disease
Achondroplasia	Achondroplastic Dwarfism ACH Osteosclerosis Congenita Achondroplastic Physique Chondrodystrophia Dwarf, Achondroplastic Achondroplastic Short Stature Congenital Osteosclerosis
Spinal Stenosis	Lumbar Spinal Stenosis Cervical Spinal Stenosis Spinal Stenosis Of Lumbar Region Spinal Stenosis In Cervical Region Spinal Canal Stenosis
Alport Syndrome	Hereditary Nephritis Alport Syndrome, X-Linked Hemorrhagic Hereditary Nephritis Congenital Hereditary Hematuria Hemorrhagic Familial Nephritis Familial Nephritis Thin Basement Membrane Disease Thin Basement Membrane Nephropathy Hematuria-Nephropathy-Deafness Syndrome Hematuric Hereditary Nephritis Hereditary Familial Congenital Hemorrhagic Nephritis Hereditary Hematuria Syndrome Hereditary Interstitial Pyelonephritis Alport Deafness-Nephropathy Alport Hearing Loss-Nephropathy Alports Syndrome Nephritis, Hereditary
Pulmonary Fibrosis	Fibrosis Of Lung
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
Skin Sarcoma	Cutaneous Sarcoma
Fibroosseous Pseudotumor Of Digits	Fibroosseous Digital Pseudotumor Fibroosseous Pseudotumor Of The Digits
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
Osteogenesis Imperfecta, Type Vii	Osteogenesis Imperfecta Type 7 Osteogenesis Imperfecta Type Vii OI7 Oi Type Vii Oi, Type Vii Osteogenesis Imperfecta, Type Iib, Formerly Oi2b, Formerly Oi Type 7 Osteogenesis Imperfecta 7 Oi2b Oi-Iib Oi Type Iib Oi-Vii Osteogenesis Imperfecta Perinatal Lethal Autosomal Recessive Osteogenesis Imperfecta Type Ii Autosomal Recessive Osteogenesis Imperfecta Type Iib
Scleroderma, Familial Progressive	Systemic Sclerosis Systemic Scleroderma Systemic Sclerosis, Susceptibility To Sclerosis Systemic Crest Syndrome Progressive Scleroderma
Carpal Tunnel Syndrome	Cts Carpal Tunnel Syndrome, Familial Carpal Tunnel Syndrome 1 CTS1 Amyotrophy, Thenar, Of Carpal Origin Carpal Tunnel Median Neuropathy Cts - Carpal Tunnel Syndrome Median Nerve Entrapment Carpal Canal Carpal Tunnel Compression Neuropathy, Carpal Tunnel Distal Median Nerve Compression Distal Median Nerve Entrapment Entrapment Neuropathy, Carpal Tunnel Median Neuropathy, Carpal Tunnel Median Neuropathy Carpal Tunnel Thenar Amyotrophy Of Crapal Origin
Osteogenesis Imperfecta, Type Vi	OI6 Osteogenesis Imperfecta Type 6 Osteogenesis Imperfecta Type Vi Oi Type Vi Oi Type 6 Osteogenesis Imperfecta Type Serpinfi- Related Osteogenesis Imperfecta Osteogenesis Imperfecta 6 Oi-Vi
Endosteal Hyperostosis, Autosomal Dominant	Osteosclerosis Worth Syndrome Osteosclerosis, Autosomal Dominant Hyperostosis, Endosteal Endosteal Hyperostosis, Worth Type Worth Disease Autosomal Dominant Endosteal Hyperostosis Autosomal Dominant Osteosclerosis, Worth Type Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus Autosomal Dominant Osteosclerosis Benign Form Of Worth Hyperostosis Corticalis Generalisata With Torus Platinus Worth'S Syndrome Worth Type Autosomal Dominant Osteosclerosis Hyperostosis Corticalis Generalisata, Benign Form Of Worth With Torus Palatinus Osteosclerosis, Autosomal Dominant, Worth Type WENHY Endosteal Hyperostosis Autosomal Dominant Hyperostosis Corticalis Generalisata Benign Form Of Worth With Torus Palatinus Osteosclerosis Autosomal Dominant Acquired Osteosclerosis
Bone Disease	Bone Diseases Skeletal Disease Skeletal Disorder Disorder Of Skeletal System
Systemic Scleroderma	Scleroderma Progressive Systemic Sclerosis Systemic Sclerosis Scleroderma, Systemic Scleroderma Syndrome Dermatosclerosis Familial Progressive Scleroderma Progressive Scleroderma Scleroderma Disease Scleroderma, Localized Diffuse Scleroderma Scleroderma, Familial Progressive
Primary Hyperparathyroidism	Familial Primary Hyperparathyroidism Hyperparathyroidism, Primary Hyperparathyroidism Primary Hypocalciuric Hypercalcemia, Familial, Type 1 Familial Benign Hypercalcemia Familial Hyperparathyroidism Parathyroid Enlargement
Morpheaform Basal Cell Carcinoma	Basal Cell Carcinoma, Morphea Cicatricial Basal-Cell Carcinoma Morphea-Type Basal Cell Carcinoma Morpheic Basal Cell Carcinoma
Breast Scirrhous Carcinoma	Infiltrating Carcinoma Of Breast With Fibrotic Stroma Scirrhous Carcinoma Of Breast
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Bruck Syndrome	Osteogenesis Imperfecta With Congenital Joint Contractures Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome
Fibrogenesis Imperfecta Ossium	Baker'S Disease
Intervertebral Disc Disease	Lumbar Disc Disease Intervertebral Disc Disorder IDD Lumbar Disc Herniation Lumbar Disc Degeneration Intervertebral Disc Disease, Susceptibility To Lumbar Disc Herniation, Susceptibility To Lumbar Disc Disease, Susceptibility To Intervertebral Disc Degeneration Discogenic Disease Discogenic Disorder Disorder Of Intervertebral Disc Intervertebral Disk Degeneration Intervertebral Disk Disease Ldd Ldh Lumbar Disc Degeneration, Susceptibility To Degeneration Of Lumbar Intervertebral Disc Intervertebral Disk Displacement
Fibrosarcoma	Neoplasms, Fibrous Tissue Fibrocytic Tumor Fibrosarcoma Of Soft Tissue Fibrous Tissue Neoplasm
Stickler Syndrome	Arthroophthalmopathy Hereditary Arthro-Ophthalmo-Dystrophy Hereditary Arthro-Ophthalmopathy Stickler Dysplasia Hereditary Progressive Arthroophthalmopathy Stickler Syndrome, Type 1
Pancreatic Cancer	Pancreatic Carcinoma Carcinoma Of Pancreas Familial Pancreatic Carcinoma Pancreatic Neoplasm Pancreatic Carcinoma, Familial Malignant Neoplasm Of Pancreas Pancreatic Acinar Carcinoma Pancreatic Tumor Familial Pancreatic Cancer Neoplasm Of The Pancreas Cancer Of The Pancreas Pancreatic Carcinoma, Somatic Pancreatic Cancer, Somatic Ca Body Of Pancreas Ca Head Of Pancreas Ca Tail Of Pancreas Malignant Neoplasm Of Body Of Pancreas Malignant Neoplasm Of Head Of Pancreas Malignant Neoplasm Of Tail Of Pancreas Pancreas Neoplasm Exocrine Cancer Exocrine Pancreas Carcinoma Hereditary Pancreatic Cancer Hereditary Pancreatic Carcinoma PNCA Pancreatic Cancer, Susceptibility To Carcinoma Of Head Of Pancreas Pancreatic Neoplasms Pancreatic Tumors Cancer, Pancreatic Cancer Of Pancreas Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site
Cutaneous Fibrous Histiocytoma	Dermatofibroma Fibrohistiocytic Tumor Benign Cutaneous Fibrous Histiocytoma Fibrous Histiocytoma Of Skin Fibrous Xanthoma Of Skin Pleomorphic Fibroma Sclerosing Angioma Sclerosing Angioma Of Skin Fibrous Histiocytoma
Epicondylitis	Tennis Elbow Lateral Epicondylitis Golfer'S Elbow Medial Epicondylitis Andrel Epicondylitis Archer'S Elbow Hockey Elbow Shooter'S Elbow
Hypermobility Syndrome	Benign Joint Hypermobility
Epidermolysis Bullosa Simplex	Ebs Epidermolysis Bullosa Intraepidermic Epidermolytic Epidermolysis Bullosa
Syndromic X-Linked Intellectual Disability Cabezas Type	Cabezas Syndrome Syndromic X-Linked Mental Retardation 15 Mental Retardation, X-Linked, Syndromic 15 Mrss Mrxs15 Mrxsc X-Linked Mental Retardation With Short Stature X-Linked Mental Retardation With Short Stature, Hypogonadism, And Abnormal Gait Mental Retardation, X-Linked, With Short Stature Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait
Osteogenesis Imperfecta, Type V	Osteogenesis Imperfecta Type 5 OI5 Osteogenesis Imperfecta Type V Oi Type 5 Oi Type V Oi, Type V Oi With Calcification In Interosseous Membranes Type V Oi Osteogenesis Imperfecta 5 Oi-V
Skin Benign Neoplasm	Neoplasm Of Skin By Site Tumor Of The Skin Skin Tumor Benign Neoplasm Of Skin Skin Neoplasms
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]
Keratoconus	Kc Conical Cornea Noninflammatory Corneal Thining Bulging Cornea Cornea Conical Acquired Conus Of Cornea
Hypophosphatasia, Childhood	Childhood Hypophosphatasia Childhood-Onset Hypophosphatasia HPPC Childhood-Onset Phosphoethanolaminuria Childhood-Onset Rathburn Disease Childhood-Onset Rathbun Disease
Joubert Syndrome 6	JBTS6 Joubert Syndrome, Type 6
Bone Structure Disease
Pseudosarcomatous Fibromatosis	Nodular Fasciitis Pseudosarcomatous Fasciitis Fasciitis - Nodular Fasciitis Nodular
Diffuse Scleroderma	Diffuse Systemic Sclerosis Systemic Sclerosis, Diffuse Scleroderma, Diffuse Systemic Scleroderma Progressive System Sclerosis
Bone Remodeling Disease
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
Localized Scleroderma	Morphea Localised Scleroderma Localized Fibrosing Scleroderma Circumscribed Scleroderma Localised Morphea Localised Morphoea Localized Morphea Scleroderma, Circumscribed Or Localised Scleroderma, Circumscribed Or Localized Scleroderma, Localized
Bone Resorption Disease	Bone Resorption
Non-Alcoholic Steatohepatitis	Nonalcoholic Steatohepatitis Nash Nash - [Non-Alcoholic Steatohepatitis] Non-Alcoholic Steatohepatosis
Ureteral Disease	Ureteral Diseases Ureteral Disorders Disorder Of Ureter
Congenital Hypothyroidism	Cretinism Neonatal Hypothyroidism Ch Cht Congenital Myxedema Myxedema, Congenital Endemic Cretinism Congenital Iodine-Deficiency Syndrome Fetal Iodine Deficiency Syndrome Congenital Iodine-Deficiency Hypothyroidism Nos
Beach Ear	Acute Swimmer'S Ear Acute Bacterial Inflammation Of External Ear Acute Otitis Externa, Diffuse Acute Swimmers' Ear Tank Ear
Amebiasis	Amoebiasis Entamoebiasis Chronic Intestinal Amebiasis Amoebiasis, Unspecified Amebic Colitis Amoebic Enteritis Infection Due To Entamoeba Histolytica Amoebic Infection Disease Due To Endamoebidae Amoebiasis Nos
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
Aortic Valve Disease 1	Aortic Valve Disease Bicuspid Aortic Valve Aortic Valve Disorder AOVD1 Bav Bicuspid Aortic Valve Disease Familial Bicuspid Aortic Valve Aortic Valve Calcification Aovd Aortic Valve, Bicuspid Aortic Valve, Calcification Of Aortic Stenosis, Calcific Familial Bav Calcific Aortic Stenosis Calcification Of Aortic Valve Abnormality Of The Aortic Valve Aortic Valve Disease, Type 1 Aortic Valve Disease 2 Bicommissural Aortic Valve
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
Loeys-Dietz Syndrome	Loeys-Dietz Aortic Aneurysm Syndrome Lds Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies Furlong Syndrome
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
Interstitial Lung Disease 2	Idiopathic Pulmonary Fibrosis Ipf Fibrocystic Pulmonary Dysplasia Pulmonary Fibrosis, Idiopathic Pulmonary Fibrosis, Idiopathic, Susceptibility To Cryptogenic Fibrosing Alveolitis ILD2 Idiopathic Pulmonary Fibrosis, Familial Fibrosing Alveolitis, Cryptogenic Uip Fibrosing Alveolitis Interstitial Pneumonitis, Usual Familial Idiopathic Pulmonary Fibrosis Idiopathic Fibrosing Alveolitis, Chronic Form Usual Interstitial Pneumonia Fibrosing Alveolitis Cryptogenic Hamman-Rich Disease Idiopathic Pulmonary Fibrosis Familial Interstitial Pneumonitis Usual Fibrosis Idiopathic Pulmonary Fibrosis, Pulmonary, Idiopathic Hamman-Rich Syndrome Chronic Idiopathic Pulmonary Fibrosis Acute Interstitial Pneumonia Interstitial Pulmonary Fibrosis Ipf - [Idiopathic Pulmonary Fibrosis] Idiopathic Lung Fibrosis Fibrosing Lung Disease Pulmonary Fibrosis Nos Fibrosing Pneumonitis
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Cystic Fibrosis	Mucoviscidosis CF Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis Cystic Fibrosis Lung Disease, Modifier Of Cystic Fibrosis Of Pancreas Fibrocystic Disease Of Pancreas Cf - [Cystic Fibrosis] Cystic Fibrosis Nos Fibrocystic Disease Fibrocystic Disease Of The Pancreas Mucoviscidosis Of Pancreas Nonproliferative Fibrocystic Disease Pancreatic Cystic Fibrosis
Plantar Fascial Fibromatosis	Dupuytren'S Contracture Of Foot Ledderhose'S Disease Fibromatosis, Plantar Ledderhose Disease
Orthostatic Intolerance	Mitral Valve Prolapse Neurocirculatory Asthenia Mitral Valve Prolapse Syndrome Irritable Heart Systolic Click-Murmur Syndrome Soldiers Heart Cardiovascular Malfunction Arising From Mental Factors Cardiovascular Neurosis Da Costa'S Syndrome Krishaber'S Disease Barlow'S Syndrome Floppy Mitral Valve Mitral Leaflet Syndrome Myxomatous Mitral Valve Prolapse Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency Orthostatic Intolerance Due To Net Deficiency Pots Due To Net Deficiency OI Intolerance, Orthostatic Mitral Valve Prolapse, Familial, X-Linked Ballooning Mitral Valve Barlow Syndrome Flail Mitral Leaflet Myxomatous Mitral Valve Mitral Valve Prolapse-Click Syndrome Prolapsing Mitral Valve Leaflet Syndrome Billowing Mitral Valve Leaflet Posterior Mitral Leaflet Deformity Ballooning Posterior Leaflet Syndrome Blue Valve Syndrome Floppy Mitral Valve Syndrome Mitral Valvular Prolapse Systolic Click Syndrome
Osteogenesis Imperfecta, Type Xi	Osteogenesis Imperfecta Type 11 OI11 Osteogenesis Imperfecta Type Xi Oi, Type Xi Osteogenesis Imperfecta 11 Oi Type Xi Oi-Xi
Diabetes Mellitus	Diabetes
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
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

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P99047	Simtuzumab	Inhibitor	≥99.0%	Phase 2

Pre-clinical Phase

Bioactive Molecules (23)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-151932	FXR agonist 3	Agonist	96.51%	Unkown
HY-158231	Polyether F127 Diacrylate	Activator	/	Unkown
HY-47888	PLN-1474	Inhibitor	99.35%	Unkown
HY-Y1123	2-Aminoacetamide hydrochloride	Activator	99.89%	Unkown
HY-146434	TGFβ-IN-2	Inhibitor	99.37%	Unkown
HY-120006A	(rel)-AR234960	Agonist	98.95%	Unkown
HY-W019901B	Anhydrous calcium sulfate (97%)	Activator	99.40%	Unkown
HY-P11223	CMF9	Inhibitor	98.65%	Unkown
HY-P5237	Tetrapeptide-4	Activator	99.54%	Unkown
HY-147195	QH536	Inhibitor	/	Unkown
HY-154979	Anti-hepatic fibrosis agent 2		/	Unkown
HY-155328	GK444	Inhibitor	/	Unkown
HY-172258	5-HT2B antagonist-2	Inhibitor	/	Unkown
HY-175496	Acid Ceramidase-IN-3	Inhibitor	/	Unkown
HY-176737	TGF-β1/Smad-IN-1	Inhibitor	/	Unkown
HY-178477	LIFR/GPBAR1 modulator 1		/	Unkown
HY-179042	TGF-β/Smad-IN-3	Inhibitor	/	Unkown
HY-181655	Cathepsin D degrader 1	Degrader	/	Unkown
HY-181993	JNK3-IN-11	Inhibitor	/	Unkown
HY-184149	ROCK2-IN-17	Inhibitor	/	Unkown
HY-RS02970	COL1A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16961	Col1a1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23404	Col1a1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P992066	Anti-Mouse DDR2 Antibody (DAB0065)	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	COL1A1	VGNC	VGNC:61054
Canis familiaris	COL1A1	VGNC	VGNC:39464
Mus musculus	COL1A1	MGD	MGI:88467
Rattus norvegicus	COL1A1	RGD	RGD:61817
Macaca mulatta	COL1A1	VGNC	VGNC:82129
Bos taurus	COL1A1	VGNC	VGNC:27560
Others	COL1A1	NCBI