1. Gene
  2. COL1A2 - collagen type I alpha 2 chain Gene

COL1A2 - collagen type I alpha 2 chain Gene

中文名称:I 型胶原蛋白 alpha 2 链

种属: Homo sapiens

同用名: OI4; EDSCV; EDSARTH2

基因 ID: 1278 | 基因类型: protein coding

关于 COL1A2

Cytogenetic location: 7q21.3 Genomic coordinates (GRCh38): 7:94,394,895-94,431,227 (from NCBI)

This gene has 12 transcripts (splice variants), 204 orthologues, 37 paralogues and is associated with 18 phenotypes. Broad expression in gall bladder (RPKM 891.0), urinary bladder (RPKM 521.6) and 14 other tissues.

功能概要

该基因编码 I 型胶原的前 alpha2 链,其三股螺旋由两条 alpha1 链和一条 alpha2 链组成。 I 型是一种形成纤维的胶原蛋白,存在于大多数结缔组织中,在骨骼、角膜、真皮和肌腱中含量丰富。该基因的突变与 I-IV 型成骨不全症、VIIB 型 Ehlers-Danlos 综合征、经典型隐性 Ehlers-Danlos 综合征、特发性骨质疏松症和非典型马凡综合征有关。然而,与该基因突变相关的症状往往不如 I 型胶原蛋白 (COL1A1) 的 alpha1 链基因突变严重,这反映了 alpha2 链在基质完整性中的不同作用。已经确定了该基因的三个转录物,这些转录物是由于使用交替的聚腺苷酸化信号而产生的。[R. Dalgleish 提供,2008 年 2 月]

This gene encodes the pro-alpha2 chain 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 VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

COL1A2 基因产物(1)

mRNA Protein Name
NM_000089.4 NP_000080.2 collagen alpha-2(I) chain precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IDA
IDA: 通过直接分析推断
17211858 GOA
enables platelet-derived growth factor binding IDA
IDA: 通过直接分析推断
8900172 GOA
enables protease binding IPI
IPI: 通过物理相互作用推断
19932771 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18375391 GOA
enables protein-macromolecule adaptor activity IMP
IMP: 通过突变表型推断
18375391 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Rho protein signal transduction IDA
IDA: 通过直接分析推断
17217948 GOA
involved in blood vessel development IMP
IMP: 通过突变表型推断
17211858 GOA
involved in collagen fibril organization IMP
IMP: 通过突变表型推断
17211858 GOA
involved in regulation of blood pressure IMP
IMP: 通过突变表型推断
17334644 GOA
involved in skeletal system development IMP
IMP: 通过突变表型推断
8841196 GOA
involved in skin morphogenesis IMP
IMP: 通过突变表型推断
17211858 GOA
involved in transforming growth factor beta receptor signaling pathway IDA
IDA: 通过直接分析推断
17217948 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of collagen type I trimer IDA
IDA: 通过直接分析推断
18375391 GOA
part of collagen type I trimer IMP
IMP: 通过突变表型推断
17955022 GOA
part of collagen type I trimer IPI
IPI: 通过物理相互作用推断
26848503 GOA
located in extracellular space IDA
IDA: 通过直接分析推断
18375391 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

COL1A2 蛋白结构

Collagen

Collagen: Collagen triple helix repeat (20 copies) (32 - 75)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (91 - 149)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (148 - 205)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (469 - 527)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (604 - 661)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1045 - 1102)

COLFI

COLFI: Fibrillar collagen C-terminal domain (1150 - 1365)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1366 a.a.
蛋白主名 其他名称

collagen alpha-2(I) chain

alpha 2 type I procollagen

COL1A2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra COL1A2 P08123 UBQLN1 Homo sapiens Q9UMX0-2
Y2H Prey Pooling
26871637
Intra COL1A2 P08123 UBQLN1 Homo sapiens Q9UMX0-2
Validated Y2H
25416956
Intra COL1A2 P08123 UBQLN1 Homo sapiens Q9UMX0-2
Validated Y2H
26871637
Intra COL1A2 P08123 UBQLN1 Homo sapiens Q9UMX0-2
Y2H Array
26871637
Intra COL1A2 P08123 KCNIP4 Homo sapiens Q6PIL6
Y2H Prey Pooling
32296183
Intra COL1A2 P08123 KCNIP4 Homo sapiens Q6PIL6
Validated Y2H
26871637
Intra COL1A2 P08123 KCNIP4 Homo sapiens Q6PIL6
Validated Y2H
32296183
Intra COL1A2 P08123 KCNIP4 Homo sapiens Q6PIL6
Y2H Array
26871637
Intra COL1A2 P08123 KCNIP4 Homo sapiens Q6PIL6
Y2H Array
32296183
Intra COL1A2 P08123 KCNIP4 Homo sapiens Q6PIL6
Y2H Prey Pooling
26871637
Intra COL1A2 P08123 SGTA Homo sapiens O43765
Y2H Prey Pooling
25416956
Intra COL1A2 P08123 SGTA Homo sapiens O43765
Y2H Prey Pooling
26871637
Intra COL1A2 P08123 SGTA Homo sapiens O43765
Validated Y2H
25416956
Intra COL1A2 P08123 SGTA Homo sapiens O43765
Y2H Prey Pooling
32296183
Intra COL1A2 P08123 SGTA Homo sapiens O43765
Validated Y2H
26871637
Intra COL1A2 P08123 SGTA Homo sapiens O43765
Y2H Array
25416956
Intra COL1A2 P08123 SGTA Homo sapiens O43765
Y2H Array
26871637
Intra COL1A2 P08123 SGTA Homo sapiens O43765
Y2H Array
32296183
Intra COL1A2 P08123 SMARCD1 Homo sapiens Q96GM5
Validated Y2H
32296183
Intra COL1A2 P08123 MESD Homo sapiens Q14696
Validated Y2H
32296183
Intra COL1A2 P08123 MESD Homo sapiens Q14696
Y2H Array
32296183
Intra COL1A2 P08123 MESD Homo sapiens Q14696
Y2H Prey Pooling
32296183
Intra COL1A2 P08123 UBQLN1 Homo sapiens Q9UMX0
Y2H Prey Pooling
32296183
Intra COL1A2 P08123 UBQLN1 Homo sapiens Q9UMX0
Y2H Prey Pooling
25416956
Intra COL1A2 P08123 UBQLN1 Homo sapiens Q9UMX0
Validated Y2H
32296183
Intra COL1A2 P08123 UBQLN1 Homo sapiens Q9UMX0
Y2H Array
32296183
Intra COL1A2 P08123 SGTB Homo sapiens Q96EQ0
Validated Y2H
26871637
Intra COL1A2 P08123 SGTB Homo sapiens Q96EQ0
Y2H Array
26871637
Intra COL1A2 P08123 SGTB Homo sapiens Q96EQ0
Y2H Prey Pooling
26871637
Intra COL1A2 P08123 UBQLN2 Homo sapiens Q9UHD9
Validated Y2H
32296183
Intra COL1A2 P08123 UBQLN2 Homo sapiens Q9UHD9
Y2H Prey Pooling
32296183
Intra COL1A2 P08123 UBQLN2 Homo sapiens Q9UHD9
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

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

Ehlers-Danlos Syndrome, Cardiac Valvular Type

EDSCV

Cardiac-Valvular Ehlers-Danlos Syndrome

Cardiac-Valvular Eds

Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form

Cveds

Ehlers-Danlos Syndrome Cardiac Valvular Type

Eds, Cardiac Valvular Type

Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2

OIEDS2

Oieds Syndrome 2

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

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 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

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

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

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

Ehlers-Danlos/Osteogenesis Imperfecta Syndrome

Eds/Oi Syndrome

Ehlers-Danlos Syndrome

Eds

Cutis Hyperelastica

Elastic Skin

Ehlers-Danlos Syndromes

Ed Syndrome

Ehlers Danlos Syndrome

Ehlers Danlos Disease

Eds - [Ehlers-Danlos Syndrome]

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

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

High Bone Mass Osteogenesis Imperfecta

High Bone Mass Oi

Primary Bone Dysplasia

Primary Osteodysplasia

Primary Skeletal Dysplasia

Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

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

Otosclerosis

Otospongiosis

X-Linked Alport Syndrome

Nephropathy And Deafness, X-Linked

Idiopathic Scoliosis

Scoliosis Idiopathic

Bone Development Disease
Scoliosis
Chiari Malformation
Scirrhous Adenocarcinoma

Adenocarcinoma, Scirrhous

Adenocarcinoma With Productive Fibrosis

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

Caffey Disease

Infantile Cortical Hyperostosis

CAFYD

Cortical Congenital Hyperostosis

Caffey-Silverman Syndrome

De Toni-Caffey Disease

Hyperostosis Cortical Infantile

Hyperostosis, Cortical, Congenital

Oral Submucous Fibrosis

Oral Submucosal Fibrosis, Including Of Tongue

Osmf

Oral Cavity Submucous Fibrosis

Oral Submucosal Fibrosis

Submucosal Fibrosis

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

Breast Scirrhous Carcinoma

Infiltrating Carcinoma Of Breast With Fibrotic Stroma

Scirrhous Carcinoma Of Breast

Bruck Syndrome

Osteogenesis Imperfecta With Congenital Joint Contractures

Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome

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

Scleroderma, Familial Progressive

Systemic Sclerosis

Systemic Scleroderma

Systemic Sclerosis, Susceptibility To

Sclerosis Systemic

Crest Syndrome

Progressive Scleroderma

Osteogenesis Imperfecta, Type Xiv

Osteogenesis Imperfecta Type 14

OI14

Osteogenesis Imperfecta Type Xiv

Oi, Type Xiv

Osteogenesis Imperfecta 14

Oi Type Xiv

Oi-Xiv

Pulmonary Fibrosis

Fibrosis Of Lung

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

Fibrogenesis Imperfecta Ossium

Baker'S Disease

Connective Tissue Disease

Connective Tissue Diseases

Connective Tissue Disorder

Abnormality Of Connective Tissue

Disorder Of Connective Tissue

Connective Tissue Disorders

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

Spondyloepimetaphyseal Dysplasia, Strudwick Type

Spondylometaphyseal Dysplasia

Strudwick Syndrome

Dappled Metaphysis Syndrome

Semd, Strudwick Type

Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type

Smed, Strudwick Type

Smd

Smed Strudwick Type

SEMDSTWK

Smed, Type I

Semdc

Smed Type 1

Spondyloepimetaphyseal Dysplasia Strudwick Type

Sed Strudwick

Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type

Smed Type I

Spondyloepiphyseal Dysplasia Congenita With Dappled Metaphyses

Dysplasia, Spondyloepimetaphyseal, Strudwick Type

Dysplasia, Spondylometaphyseal

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

Stickler Syndrome

Arthroophthalmopathy

Hereditary Arthro-Ophthalmo-Dystrophy

Hereditary Arthro-Ophthalmopathy

Stickler Dysplasia

Hereditary Progressive Arthroophthalmopathy

Stickler Syndrome, Type 1

Collagen Disease

Collagen Diseases

Collagen Disorder

Osteoporosis, Juvenile

Idiopathic Juvenile Osteoporosis

Idiopathic Osteoporosis

Juvenile Osteoporosis

Ijo

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

Dentin Dysplasia

Dentinal Dysplasia

Dd

Dysplasia, Dentin

Shell Teeth

Dental Fluorosis

Mottled Teeth

Intrinsic Enamel Discolouration Of Fluorosis

Mottling Of Enamel

Fluorosis, Dental

Dental Fluorosis, Acquired

Hypophosphatasia, Adult

Adult Hypophosphatasia

Odontohypophosphatasia

Hypophosphatasia, Mild

HPPA

Hypophosphatasia

Mild Hypophosphatasia

Adult Rathbun Disease

Adult Phosphoethanolaminuria

HOPS

Cole-Carpenter Syndrome

Cole Carpenter Syndrome

Bone Fragility Craniosynostosis Proptosis Hydrocephalus

Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features

Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome

Hypermobility Syndrome

Benign Joint Hypermobility

Scheuermann Disease

Scheuermann'S Disease

Spinal Osteochondrosis

Juvenile Osteochondrosis Of Spine

Familial Scheuermann Disease

Familial Scheuermann Juvenile Kyphosis

Familial Spinal Osteochondrosis

Scheuermann Juvenile Kyphosis

Juvenile Osteochondritis Of The Spine

Juvenile Osteochondrosis Of Scheurermann

Scheuermann'S Kyphosis

Sherman'S Disease

Juvenile Kyphosis

Scheuermann Kyphosis

[X]Spinal Osteochondrosis, Unspecified

Beach Ear

Acute Swimmer'S Ear

Acute Bacterial Inflammation Of External Ear

Acute Otitis Externa, Diffuse

Acute Swimmers' Ear

Tank Ear

Bone Structure Disease
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

Achondrogenesis

Achondrogenesis Syndrome

Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive

Split Hand-Foot Malformation 1 With Sensorineural Hearing Loss

SHFM1D

Deafness, Congenital, With Split Hands And Feet

Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss

Congenital Deafness With Split Hands And Feet

Split Hand-Split Foot-Deafness Syndrome

Split Hand-Split Foot-Hearing Loss Syndrome

Congenital Deafness And Split Hands And Feet

Split-Hand/Foot Malformation, Type 1 With Sensorineural Hearing Loss

Split-Hand-Foot Malformation With Sensorineural Hearing Loss

Osteogenesis Imperfecta, Type Xi

Osteogenesis Imperfecta Type 11

OI11

Osteogenesis Imperfecta Type Xi

Oi, Type Xi

Osteogenesis Imperfecta 11

Oi Type Xi

Oi-Xi

Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed

Bone Remodeling Disease
Bone Resorption Disease

Bone Resorption

Loeys-Dietz Syndrome

Loeys-Dietz Aortic Aneurysm Syndrome

Lds

Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies

Furlong Syndrome

Gastric Cancer

Stomach Cancer

Gastric Carcinoma

Stomach Carcinoma

Gastric Cancer, Somatic

Gastric Neoplasm

Carcinoma Of Stomach

Stomach Neoplasms

Malignant Neoplasm Of Stomach

Gastric Cancer Risk After H. Pylori Infection

Cancer Of The Stomach

Adult Stomach Cancer

Adult Stomach Carcinoma

GASC

Gastric Cancer Intestinal

Gastric Cancers

Gastric Carcinomas

Cancer, Gastric

Stomach Neoplasm

Malignant Neoplasm Of Body Of Stomach

Malignant Tumor Of Lesser Curve Of Stomach

Gastrocarcinoma Of Unspecified Site

Leather Bottle Stomach

Carcinoma Of Fundus Of Stomach

Cancer Of Fundus Of Stomach

Primary Malignant Neoplasm Of Body Of Stomach

Cancer Of Body Of Stomach

Primary Malignant Neoplasm Of Pyloric Antrum

Pyloric Antrum Cancer

Malignant Tumour Of Stomach

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

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]

Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Medulloblastoma Predisposition Syndrome

Medulloblastoma, Somatic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Neuroectodermal Tumors, Primitive

Medulloblastomas

Desmoplastic Medulloblastoma

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site

Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

Limited Scleroderma

Limited Cutaneous Systemic Sclerosis

Limited Systemic Sclerosis

Systemic Sclerosis Sine Scleroderma

Crest Syndrome

Limited Cutaneous Systemic Scleroderma

Scleroderma, Limited

Systemic Sclerosis, Limited

Progressive Systemic Sclerosis Sine Scleroderma

Scleroderma, Sine

Crest - [Calcinosis, Raynaud Phenomenon, Oesophageal Dysmotility, Sclerodactyly, And Telangiectasia] Syndrome

Crst - [Calcinosis, Raynaud Phenomenon, Sclerodactyly And Telangiectasia] Syndrome

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

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

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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris COL1A2 VGNC VGNC:39465
Bos taurus COL1A2 VGNC VGNC:27561
Felis catus COL1A2 VGNC VGNC:78411
Mus musculus COL1A2 MGD MGI:88468
Rattus norvegicus COL1A2 RGD RGD:621351
Macaca mulatta COL1A2 VGNC VGNC:81292