COL3A1 - collagen type III alpha 1 chain Gene

Also Known as EDS4A; EDSVASC; PMGEDSV

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1281

About COL3A1

Cytogenetic location: 2q32.2 Genomic coordinates (GRCh38): 2:188,974,373-189,012,746 (from NCBI)

This gene has 6 transcripts (splice variants), 107 orthologues, 37 paralogues and is associated with 98 phenotypes. Biased expression in gall bladder (RPKM 1491.0), placenta (RPKM 1173.3) and 12 other tissues.

Summary

This gene encodes the pro-alpha1 chains of type III Collagen, a fibrillar Collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I Collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome type IV, and with aortic and arterial aneurysms. [provided by R. Dalgleish, Feb 2008]

COL3A1 Products (1)

mRNA Protein Name
NM_000090.4 NP_000081.2 collagen alpha-1(III) chain preproprotein
Molecular Function GO Annotation Evidence References Source
enables extracellular matrix structural constituent IMP
IMP: Inferred from mutant phenotype
7487954 GOA
enables integrin binding IMP
IMP: Inferred from mutant phenotype
9573018 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
2839553 GOA
Biological Process GO Annotation Evidence References Source
involved in cell-matrix adhesion IDA
IDA: Inferred from direct assay
16912226 GOA
involved in collagen fibril organization IMP
IMP: Inferred from mutant phenotype
7546986 GOA
involved in heart development IMP
IMP: Inferred from mutant phenotype
7546986 GOA
involved in integrin-mediated signaling pathway IMP
IMP: Inferred from mutant phenotype
14970208 GOA
involved in negative regulation of immune response IMP
IMP: Inferred from mutant phenotype
16754721 GOA
involved in peptide cross-linking IDA
IDA: Inferred from direct assay
16754721 GOA
involved in response to cytokine IDA
IDA: Inferred from direct assay
9076960 GOA
involved in response to radiation IDA
IDA: Inferred from direct assay
14736764 GOA
involved in skin development IMP
IMP: Inferred from mutant phenotype
9036918 GOA
involved in supramolecular fiber organization IMP
IMP: Inferred from mutant phenotype
14970208 GOA
involved in transforming growth factor beta receptor signaling pathway IDA
IDA: Inferred from direct assay
16360482 GOA
involved in wound healing IDA
IDA: Inferred from direct assay
1466622 GOA
Cellular Component GO Annotation Evidence References Source
part of collagen type III trimer IDA
IDA: Inferred from direct assay
19932771 GOA
part of collagen type III trimer IMP
IMP: Inferred from mutant phenotype
7487954 GOA
part of collagen type III trimer IPI
IPI: Inferred from physical interaction
18805790 GOA
located in collagen-containing extracellular matrix IMP
IMP: Inferred from mutant phenotype
7487954 GOA
located in extracellular space IDA
IDA: Inferred from direct assay
7487954 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

COL3A1 Protein Structure

VWC

VWC: von Willebrand factor type C domain (32 - 88)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (102 - 139)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (171 - 226)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (201 - 258)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (294 - 352)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (354 - 412)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (474 - 532)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (534 - 592)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (959 - 1015)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1077 - 1135)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1137 - 1195)

COLFI

COLFI: Fibrillar collagen C-terminal domain (1249 - 1465)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1466 a.a.
Protein Preferred Names Protein Names

collagen alpha-1(III) chain

  • Ehlers-Danlos syndrome type IV, autosomal dominant

COL3A1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Cross
COL3A1 P02461 all3_aedae Aedes aegypti O01949 20015075
Cross: Cross-species interaction Intra: Intraspecies interaction

COL3A1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P81101 Collagen III Antibody WB, ELISA, IHC-P, IHC-F, ICC/IF Human, Dog, Rabbit
HY-P83919 Collagen III Antibody (YA3616) IHC-P, FC, ELISA Human
HY-P83919A Collagen III Antibody (YA3616)(PBS only) IHC-P, FC, ELISA Human
HY-P86627 Collagen III Antibody (YA6319) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
Ehlers-Danlos Syndrome, Vascular Type
  • Eds Iv

  • Eds4

  • Vascular Ehlers-Danlos Syndrome

  • Veds

  • Sack-Barabas Syndrome

  • EDSVASC

  • Ehlers-Danlos Syndrome, Type Iv, Autosomal Dominant

  • Vascular Type Ehlers-Danlos Syndrome

  • Arterial-Ecchymotic Eds

  • Ehlers-Danlos Syndrome Type 4

  • Vascular Eds

  • Ehlers-Danlos Syndrome, Type 4

  • Ehlers-Danlos Syndrome, Type Iv

  • Ehlers-Danlos Syndrome, Arterial Type

  • Ehlers-Danlos Syndrome, Ecchymotic Type

  • Ehlers-Danlos Syndrome, Sack-Barabas Type

  • Autosomal Dominant Type Iv Ehlers-Danlos Syndrome

  • Eds Type Iv

  • Eds Type 4

  • Ehlers Danlos Syndrome, Sack-Barabas Type

  • Ehlers Danlos Syndrome, Arterial Type

  • Ehlers Danlos Syndrome, Ecchymotic Type

  • Ehlers-Danlos Syndrome Type Iv

  • Ehlers-Danlos Syndrome 4

  • Ehlers-Danlos Syndrome Arterial Type

  • Ehlers-Danlos Syndrome Ecchymotic Type

  • Ehlers-Danlos Syndrome, Type 4 Variant

  • Ehlers-Danlos, Vascular Type Syndrome

Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
  • PMGEDSV

  • Polymicrogyria With Or Without Vascular-Type Eds

  • Polymicrogyria Without Vascular-Type Ehlers-Danlos Syndrome

  • Polymicrogyria, With/Without Vascular-Type Eds

Ehlers-Danlos Syndrome
  • Eds

  • Cutis Hyperelastica

  • Elastic Skin

  • Ehlers-Danlos Syndromes

  • Ed Syndrome

  • Ehlers Danlos Syndrome

  • Ehlers Danlos Disease

  • Eds - [Ehlers-Danlos Syndrome]

Acrogeria, Gottron Type
  • Acrogeria

  • Metageria

  • Acrometageria

  • Gottron Syndrome

  • Familial Acrogeria

  • Gottron'S Syndrome

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

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

Familial Abdominal Aortic Aneurysm
Ehlers-Danlos Syndrome, Hypermobility Type
  • Ehlers-Danlos Syndrome, Type 3

  • Ehlers-Danlos Syndrome, Type Iii

  • EDSHMB

  • Eds Iii

  • Benign Hypermobility Syndrome

  • Ehlers-Danlos Syndrome Hypermobility Type

  • Eds3

  • Type Iii Ehlers-Danlos Syndrome

  • Ehlers-Danlos Syndrome Type 3

  • Es-D3

Aortic Dissection
Familial Cerebral Saccular Aneurysm
  • Familial Berry Aneurysm

  • Familial Intracranial Saccular Aneurysm

Loeys-Dietz Syndrome
  • Loeys-Dietz Aortic Aneurysm Syndrome

  • Lds

  • Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies

  • Furlong Syndrome

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

Lipoblastoma
Ehlers-Danlos Syndrome, Classic Type, 2
  • Ehlers-Danlos Syndrome, Type Ii

  • EDSCL2

  • Ehlers-Danlos Syndrome, Type Ii, Formerly

  • Eds2, Formerly

  • Ehlers Danlos Syndrome, Mild Classic Type, Formerly

  • Eds Ii, Formerly

  • Ehlers Danlos Syndrome, Mitis Type, Formerly

  • Ehlers-Danlos Syndrome Classic Type 2

  • Eds2

  • Eds Ii

  • Ehlers-Danlos Syndrome 2

  • Ehlers-Danlos Syndrome Mild Classic Type

  • Ehlers-Danlos Syndrome Mitis Type

  • Ehlers-Danlos, Classic Syndrome, Type 2

  • Ehlers-Danlos Syndrome Type 2

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

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

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

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

Breast Scirrhous Carcinoma
  • Infiltrating Carcinoma Of Breast With Fibrotic Stroma

  • Scirrhous Carcinoma Of Breast

Collagen Disease
  • Collagen Diseases

  • Collagen Disorder

Hypermobility Syndrome
  • Benign Joint Hypermobility

Splenic Artery Aneurysm
  • Aneurysm Of Splenic Artery

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

Aortic Aneurysm
  • Aortic Rupture

  • Thoracoabdominal Aortic Aneurysm, Ruptured

  • Ruptured Aortic Aneurysm

  • Aortic Aneurysms

  • Aortic Aneurysm Without Mention Of Rupture Nos

  • Ruptured Abdominal Aortic Aneurysm

  • Aortic Aneurysm, Ruptured

  • Ruptured Thoracic Aortic Aneurysm

Connective Tissue Disease
  • Connective Tissue Diseases

  • Connective Tissue Disorder

  • Abnormality Of Connective Tissue

  • Disorder Of Connective Tissue

  • Connective Tissue Disorders

Varicose Veins
  • Varices

  • Varix

  • Venous Ectasia

  • Venous Varices

  • Varicosity

Polymicrogyria
  • Pmg

Congenital Disorder Of Glycosylation, Type Iic
  • CDG2C

  • Congenital Disorder Of Glycosylation Type Iic

  • Leukocyte Adhesion Deficiency Type Ii

  • Cdg Iic

  • Cdgiic

  • Rambam-Hasharon Syndrome

  • Leukocyte Adhesion Deficiency, Type Ii

  • Lad2

  • Leukocyte Adhesion Deficiency 2

  • Cdg-Iic

  • Congenital Disorder Of Glycosylation, Type 2c

  • Rhs

  • Cdg Syndrome Type Iic

  • Lad-Ii

  • Rambam Hasharon Syndrome

  • Congenital Disorder Of Glycosylation 2c

  • Glycosylation, Congenital Disorder Of, Type Iic

Placenta Disease
  • Placenta Diseases

  • Placenta Disorder

  • Pregnancy Complications

  • Placenta Disorders

Carotid Artery Dissection
  • Dissection Of Carotid Artery

Hemopneumothorax
  • Haemopneumothorax

Arterial Tortuosity Syndrome
  • Arterial Tortuosity

  • Ats

  • ATORS

  • Tortuosity, Arterial, Syndrome

Pulsating Exophthalmos
Tricuspid Valve Prolapse
Plantar Fascial Fibromatosis
  • Dupuytren'S Contracture Of Foot

  • Ledderhose'S Disease

  • Fibromatosis, Plantar

  • Ledderhose Disease

Vascular Disease
  • Vascular Diseases

  • Aneurysm

  • Spinal Cord Ischemia

  • Vascular Anomaly

  • Spinal Cord Vascular Diseases

  • Vascular Tissue Disease

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

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

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

Prolapse Of Urethra
  • Urethrocele

Aortic Disease
  • Aortic Diseases

  • Aortic Disorder

  • Disorder Of The Aorta

Loeys-Dietz Syndrome 1
  • Furlong Syndrome

  • Loeys-Dietz Aortic Aneurysm Syndrome

  • LDS1

  • Aat5

  • Loeys-Dietz Syndrome Type 1

  • Aortic Aneurysm, Familial Thoracic 5

  • Familial Throacic Aortic Aneurysm 5

  • Loeys-Dietz Syndrome

  • Aortic Aneurysm Syndrome, Loeys-Dietz Type

  • Familial Thoracic Aortic Aneurysm 5

  • Ldas

  • Marfanoid Disorder-Craniosynostosis Syndrome

  • Aneurysm, Aortic, Thoracic, Familial, Type 5

  • Loeys-Dietz Syndrome, Type 1

  • Loeys-Dietz Syndrome, Type 2a

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

Cerebral Arterial Disease
  • Cerebral Arterial Diseases

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
  • CADASIL2

  • Cadasil 2

  • Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 2

  • Htra1-Related Autosomal Dominant Cerebral Small Vessel Disease

  • Htra1-Related Autosomal Dominant Cerebral Angiopathy

  • Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 2

  • Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant, 2

Inguinal Hernia
  • Hernia Inguinal

  • Hernia, Inguinal

  • Inguinal Hernias

  • Bubonocele

  • Indirect Inguinal Hernia

  • Direct Inguinal Hernia

  • Oblique Inguinal Hernia

  • Scrotal Hernia

  • Ih - [Inguinal Hernia]

Bethlem Myopathy 1
  • Bethlem Myopathy

  • Myopathy, Benign Congenital, With Contractures

  • Muscular Dystrophy, Benign Congenital

  • BTHLM1

  • Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5

  • Lgmdd5

  • Benign Congenital Muscular Dystrophy

  • Benign Autosomal Dominant Myopathy

  • Myopathy, Bethlem

  • Myopathy, Bethlem, Type 1

Aortic Aneurysm, Familial Abdominal, 1
  • Abdominal Aortic Aneurysm

  • Aortic Aneurysm, Familial Abdominal 1

  • Aneurysm, Abdominal Aortic

  • AAA

  • Aortic Aneurysm, Abdominal

  • AAA1

  • Aortic Aneurysm, Familial Abdominal

  • Aortic Aneurysm Abdominal

  • Abdominal Aortic Aneurysms

  • Abdominal Aortic Aneurysm Without Mention Of Perforation Or Rupture

  • Abdomen Aneurysm

  • Abdominal Aorta Aneurysm

  • Aneurysm Of Abdominal Aorta

  • Aortic Abdomen Aneurysm

  • Aaa - [Abdominal Aortic Aneurysm]

  • Abdominal Aneurysm

  • Abdominal Aorta Aneurysm Rupture

  • Abdominal Aorta Aneurysm Ruptured

  • Abdominal Aortic Aneurysm Which Has Ruptured

  • Ruptured Aaa

  • Abdomen Aorta Aneurysm Ruptured

  • Abdomen Aorta Rupture

  • Abdomen Aortic Aneurysm Rupture

  • Abdomen Aneurysm Rupture

  • Abdomen Aortic Aneurysm Ruptured

  • Abdomen Aortic Rupture

  • Abdominal Aorta Rupture

  • Abdominal Aortic Rupture

  • Rupture Abdomen Aorta Aneurysm

  • Rupture Abdominal Aortic Aneurysm

  • Ruptured Abdomen Aneurysm

  • Ruptured Abdomen Aorta

  • Ruptured Abdomen Aortic

  • Ruptured Abdominal Aneurysm

  • Ruptured Abdominal Aorta

  • Ruptured Abdominal Aortic

  • Ruptured Aorta Abdominalis Aneurysm

  • False Abdomen Aorta Aneurysm Ruptured

  • False Abdominal Aortic Aneurysm Ruptured

  • False Abdominal Aorta Aneurysm Ruptured

  • False Abdomen Aortic Aneurysm Ruptured

Stickler Syndrome
  • Arthroophthalmopathy

  • Hereditary Arthro-Ophthalmo-Dystrophy

  • Hereditary Arthro-Ophthalmopathy

  • Stickler Dysplasia

  • Hereditary Progressive Arthroophthalmopathy

  • Stickler Syndrome, 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

Osteochondrodysplasia
  • Skeletal Dysplasia

  • Chondrodystrophy

  • Congenital Anomaly Of Cartilage

  • Osteochondrodysplasias

  • Cartilage Development Disorder

  • Osteochondrodysplasia Syndrome

  • Dysplasia, Skeletal

  • Mucopolysaccharidosis Iv

Patent Ductus Arteriosus 1
  • Patent Ductus Arteriosus

  • PDA1

  • Pda

  • Ductus Arteriosus, Patent

  • Patent Ductus Arteriosus, Susceptibility To

  • Patent Ductus Botalli

  • Patency Of The Ductus Arteriosus

  • Patent Ductus Arteriosus Familial

  • Ductus Arteriosus Patent

  • Patent Ductus Arteriosus - Persisting Type

Hypertension, Essential
  • Essential Hypertension

  • Hypertension

  • High Blood Pressure

  • Hypertension, Essential, Susceptibility To

  • Hypertensive Disease

  • Primary Hypertension

  • EHT

  • Hypertension, Salt-Sensitive Essential, Susceptibility To

  • Hyperpiesia

  • Idiopathic Hypertension

  • Hypertensive Disorder

  • Hypertension, Essential, Susceptibility To, 3

  • Hypertension, Essential 3

  • Hypertension, Essential, Salt-Sensitive

  • Hypertension, Essential, Susceptibility To, 6

  • Hypertension, Essential 6

  • Hypertension, Salt-Sensitive Essential

  • Hypertension, Susceptibility To

  • Hypertension, Essential, Susceptibility To, 4

  • Hypertension, Essential 4

  • Hypertension, Essential, Susceptibility To, 2

  • Hypertension, Essential 2

  • Hypertension, Essential, Susceptibility To, 1

  • Hypertension, Essential 1

  • Hypertension, Essential, Susceptibility To, 5

  • Hypertension, Essential 5

  • Htn

  • Vascular Hypertensive Disorder

  • Systemic Primary Arterial Hypertension

  • Hbp - [High Blood Pressure]

  • Systemic Arterial Hypertensive Disorder

  • Elevated Blood Pressure

  • Arterial Hypertension Nos

  • Hypertension Nos

  • Benign Hypertension

  • Systemic Arterial Hypertension

  • Systemic Hypertension

  • Artery Htn

  • Benign Htn

  • Vascular Htn

  • Vascular Hypertension

  • Cholesterol Hypertension

  • Cholesterol Htn

  • Idiopathic Htn

  • Malignant Hypertension

  • Malignant Htn

  • Raised Blood Pressure

  • Cardiovascular Hypertension

  • Primary Htn - [Hypertension]

  • High Arterial Tension

  • High Blood Pressure Disorder

  • Ht - [Hypertension]

  • Htn - [Hypertension]

  • Hypertensive Vascular Disease

  • Hypertensive Vascular Degeneration

Williams-Beuren Syndrome
  • Williams Syndrome

  • WBS

  • Wms

  • Deletion 7q11.23

  • Monosomy 7q11.23

  • Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

  • Fanconi Schlesinger Syndrome

  • Beuren Syndrome

  • Elfin Facies Syndrome

  • Elfin Facies With Hypercalcemia

  • Hypercalcemia-Supravalvar Aortic Stenosis

  • Ws

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

Hypertrophic Cardiomyopathy
  • Hypertrophic Obstructive Cardiomyopathy

  • Cardiomyopathy, Hypertrophic

  • Cardiomyopathy Hypertrophic Obstructive

  • Cardiomyopathy, Hypertrophic, Familial

  • Idiopathic Myocardial Hypertrophy

  • Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Cardiomyopathy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Muscular Subaortic Stenosis

  • Hypertrophic Obstructive Subaortic Stenosis

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus COL3A1 RGD RGD:71029
Mus musculus COL3A1 MGD MGI:88453
Canis familiaris COL3A1 VGNC VGNC:39472
Macaca mulatta COL3A1 VGNC VGNC:71296
Bos taurus COL3A1 VGNC VGNC:27565
Felis catus COL3A1 VGNC VGNC:61059
Others COL3A1 NCBI