COL1A1 - collagen type I alpha 1 chain Gene

Homo sapiens

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

Gene ID: 1277 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-47888	PLN-1474	Inhibitor	99.30%	Unkown
HY-151932	FXR agonist 3	Agonist	95.94%	Unkown
HY-146434	TGFβ-IN-2	Inhibitor	99.37%	Unkown
HY-147195	QH536	Inhibitor	/	Unkown
HY-154979	Anti-hepatic fibrosis agent 2		/	Unkown
HY-155328	GK444	Inhibitor	/	Unkown
HY-RS02970	COL1A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-125640	NVP018	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