COL4A1 - collagen type IV alpha 1 chain Gene

Also Known as BSVD; BSVD1; RATOR; PADMAL; COL4A1s

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1282

About COL4A1

Cytogenetic location: 13q34 Genomic coordinates (GRCh38): 13:110,148,963-110,307,157 (from NCBI)

Biased expression in placenta (RPKM 204.1), fat (RPKM 72.2) and 9 other tissues.

Summary

This gene encodes a type IV Collagen alpha protein. Type IV Collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with Other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

COL4A1 Products (2)

mRNA Protein Name
NM_001303110.2 NP_001290039.1 collagen alpha-1(IV) chain isoform 2 precursor
NM_001845.6 NP_001836.3 collagen alpha-1(IV) chain isoform 1 preproprotein
Molecular Function GO Annotation Evidence References Source
enables extracellular matrix structural constituent IMP
IMP: Inferred from mutant phenotype
20818663 GOA
enables extracellular matrix structural constituent conferring tensile strength IMP
IMP: Inferred from mutant phenotype
16107487 GOA
enables platelet-derived growth factor binding IDA
IDA: Inferred from direct assay
8900172 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12011424 GOA
Biological Process GO Annotation Evidence References Source
involved in basement membrane organization IMP
IMP: Inferred from mutant phenotype
18160688 GOA
involved in blood vessel morphogenesis IMP
IMP: Inferred from mutant phenotype
20818663 GOA
involved in brain development IMP
IMP: Inferred from mutant phenotype
16107487 GOA
involved in branching involved in blood vessel morphogenesis IMP
IMP: Inferred from mutant phenotype
20818663 GOA
involved in renal tubule morphogenesis IMP
IMP: Inferred from mutant phenotype
18160688 GOA
involved in retinal blood vessel morphogenesis IMP
IMP: Inferred from mutant phenotype
20818663 GOA
Cellular Component GO Annotation Evidence References Source
part of collagen type IV trimer IMP
IMP: Inferred from mutant phenotype
16107487 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

COL4A1 Protein Structure

Collagen

Collagen: Collagen triple helix repeat (20 copies) (46 - 103)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (64 - 119)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (103 - 160)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (172 - 221)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (275 - 331)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (378 - 426)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (405 - 465)

Collagen

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

Collagen

Collagen: Collagen triple helix repeat (20 copies) (541 - 590)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (645 - 688)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (690 - 735)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (743 - 796)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (779 - 835)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (839 - 895)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (885 - 937)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (948 - 1005)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (999 - 1056)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1058 - 1116)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1110 - 1162)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1174 - 1229)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1384 - 1440)

C4

C4: C-terminal tandem repeated domain in type 4 procollagen (1445 - 1553)

C4

C4: C-terminal tandem repeated domain in type 4 procollagen (1555 - 1667)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1669 a.a.
Protein Preferred Names Protein Names

collagen alpha-1(IV) chain

  • COL4A1 NC1 domain

COL4A1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
COL4A1 P02462 COL4A2 Homo sapiens P08572 12011424
Intra
COL4A1 P02462 COL4A2 Homo sapiens P08572
GMS
12011424
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant COL4A1 Proteins

Cat. No. Product Name Accession Purity
HY-P71444 COL4A1 Protein, Human (GST) P02462 (G30-P167) ≥ 90%, as determined by reducing SDS-PAGE.

COL4A1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P81201 Collagen IV Antibody ELISA, IHC-P, IHC-F, FC, ICC/IF Human
HY-P86639 Collagen IV Antibody (YA6331) WB, IHC-P, ICC/IF, IP, ELISA Human

Related Diseases

Diseases Alias
Retinal Arteries, Tortuosity Of
  • Retinal Arterial Tortuosity

  • Retinal Hemorrhage With Vascular Tortuosity

  • RATOR

  • Tortuosity Of Retinal Arteries

  • Retinal Arteriolar Tortuosity

  • Familial Isolated Retinal Arterial Tortuosity

  • Tortuosity, Arteries, Retinal

Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
  • Autosomal Dominant Familial Hematuria-Retinal Arteriolar Tortuosity-Contractures Syndrome

  • HANAC

  • Hereditary Angiopathy With Nephropathy, Aneurysms, And Muscle Cramps Syndrome

  • Hanac Syndrome

  • Hereditary Angiopathy-Nephropathy-Aneurysms-Muscle Cramps Syndrome

  • Autosomal Dominant Familial Hematuria, Retinal Arteriolar Tortuosity, Contractures

  • Hereditary Angiopathy With Nephropathy, Aneurysm, And Muscle Cramps Syndrome

  • Hereditary Angiopathy With Nephropathy Aneurysms And Muscle Cramps

Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
  • PADMAL

  • Dementia, Hereditary Multi-Infarct, Swedish Type

  • Pontine Autosomal Dominant Microangiopathy With Leukoencephalopathy

Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
  • BSVD1

  • Gould Syndrome 1

  • Hemiplegia, Infantile, With Porencephaly

  • Brain Small Vessel Disease With Hemorrhage

  • Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukoencephalopathy, Autosomal Dominant

  • Brain Small Vessel Disease With Axenfeld-Rieger Anomaly

  • Leukoencephalopathy With Axenfeld-Rieger Anomaly

  • Porencephaly, Type 1, Formerly

  • T1p, Formerly

  • Porencephaly, Type 1, Autosomal Dominant, Formerly

  • Adt1p, Formerly

  • Porencephaly 1, Formerly

  • Poren1, Formerly

  • Brain Small Vessel Disease With Or Without Ocular Anomalies

  • Adt1p

  • Hemiplegia Infantile With Porencephaly Type 1

  • Poren1

  • Porencephaly 1

  • Porencephaly Type 1

  • Porencephaly Type 1 Autosomal Dominant

  • T1p

  • Porencephaly, Familial

Hemorrhage, Intracerebral
  • Intracerebral Hemorrhage

  • Hemorrhagic Stroke

  • ICH

  • Hemorrhage, Intracerebral, Susceptibility To

  • Stroke, Hemorrhagic

  • Stroke, Hemorrhagic, Susceptibility To

  • Brain Hemorrhage

Cerebral Palsy
  • Infantile Cerebral Palsy

  • Mixed Cerebral Palsy

  • Palsy Cerebral

  • Palsy, Cerebral

  • Cerebral Palsy, Mixed

Porencephaly
Col4a1-Related Disorders
  • Col4a1-Related Disorder

Brain Small Vessel Disease 1
  • Col4a1-Related Brain Small Vessel Disease With Hemorrhage

  • Col4a1-Related Familial Vascular Leukoencephalopathy

  • Col4a1-Related Retinal Arteriolar Tortuosity-Infantile Hemiparesis-Autosomal Dominant Leukoencephalopathy Syndrome

  • Autosomal Dominant Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukencephalopathy

  • Brain Small Vessel Disease With Axenfeld-Riegar Anomaly

  • Brain Small Vessel Disease With Hemorrhage

  • Brain Small Vessel Disease With Or Without Ocular Anomalies

  • Bsvd1

  • Infantile Hemiparesis

  • Leukoencephalopathy With Axenfeld-Riegar Anomaly

Familial Porencephaly
  • Familial Porencephalic White Matter Disease

  • Autosomal Dominant Porencephaly Type 1

  • Infantile Hemiplegia With Porencephaly

  • Porencephaly Type 1

  • Porencephaly, Familial

Schizencephaly
  • Familial Schizencephaly

  • Acquired Schizencephaly

  • SCHZC

  • Schizencephalia

Optic Nerve Hypoplasia, Bilateral
  • Optic Nerve Hypoplasia

  • Bilateral Optic Nerve Hypoplasia

  • Optic Nerve Hypoplasia, Familial Bilateral

  • Familial Bilateral Optic Nerve Hypoplasia

  • Isolated Optic Nerve Hypoplasia/Aplasia

  • Optic Nerve Aplasia, Bilateral

  • Onh

  • BONH

  • Bilateral Optic Nerve Aplasia

  • Hypoplasia, Optic Nerve, Bilateral

Walker-Warburg Syndrome
  • Hard Syndrome

  • Walker-Warburg Congenital Muscular Dystrophy

  • Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

  • Cod-Md Syndrome

  • Chemke Syndrome

  • Hydrocephalus, Agyria And Retinal Dysplasia

  • Cerebroocular Dysgenesis

  • Cerebroocular Dysplasia Muscular Dystrophy Syndrome

  • Hard +/- E Syndrome

  • Pagon Syndrome

  • Warburg Syndrome

  • Hydrocephalus, Agyria, And Retinal Dysplasia

  • Mddga

  • Muscular Dystrophy-Dystroglycanopathy , Type A

  • Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

  • Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

  • Wws

  • Dystrophy, Muscular, Dystroglycanopathy, Type A

Colpocephaly
  • Vesiculocephaly

Brain Small Vessel Disease
Anterior Segment Dysgenesis
  • Anterior Segment Developmental Anomaly

  • Anterior Segment Mesenchymal Dysgenesis

  • Corneal Opacification And Other Ocular Anomalies

  • Sclerocornea With Other Ocular Anomalies

  • Asmd

  • Asod

  • Anterior Segment Ocular Dysgenesis

  • Foxe3-Related Ocular Disorder

  • Familial Ocular Anterior Segment Mesenchymal Dysgenesis

  • Dysgenesis, Anterior Segment

  • Irido-Corneal Dysgenesis

  • Axenfeld-Rieger Syndrome, Type 3

Cerebrovascular Disease
  • Cerebrovascular Disorder

  • Cerebrovascular Accident

  • Cerebrovascular Disorders

  • Cva

  • Stroke

Cakut
  • Renal Or Urinary Tract Malformation

  • Congenital Anomalies Of Kidney And Urinary Tract

  • Congenital Anomaly Of Kidney And Urinary Tract

  • Congenital Anomalies Of The Kidney And Urinary Tract

  • Kidney And Urinary Tract, Anomalies, Congenital

  • Renal Hypodysplasia, Nonsyndromic, 1

Anterior Segment Dysgenesis 1
  • Anterior Segment Mesenchymal Dysgenesis

  • Anterior Segment Dysgenesis 1, Multiple Subtypes

  • ASGD1

  • Asmd

  • Anterior Segment Ocular Dysgenesis

  • Asod

  • Familial Ocular Anterior Segment Mesenchymal Dysgenesis

  • Ocular Anterior Segment Dysgenesis

  • Dysgenesis, Anterior Segment, Type 1

  • Axenfeld-Rieger Syndrome, Type 3

  • Irido-Corneal Dysgenesis

Hydranencephaly
  • Hydroanencephaly

Hemiplegia
  • Infantile Hemiplegia

  • Postnatal Infantile Hemiplegia

  • Hemiplegia, Infantile

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

Spastic Hemiplegia
  • Spastic Hemiplegic Cerebral Palsy

  • Hemiplegic Cerebral Palsy

  • Congenital Hemiplegia

  • Hemiplegic Infantile Cerebral Palsy

  • Cerebral Palsy Spastic Hemiplegic

  • Spastic Hemiplegia Cerebral Palsy

  • Hemiplegia, Spastic

Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
  • Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations

  • Crv

  • Rvcl

  • Rvcl-S

  • Vasculopathy, Retinal, With Cerebral Leukodystrophy

  • Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

  • Retinal Vasculopathy With Cerebral Leukodystrophy

  • Retinal Vasculopathy And Cerebral Leukoencephalopathy

  • Hereditary Vascular Retinopathy

  • Hvr

  • RVCLS

  • Cerebroretinal Vasculopathy, Hereditary

  • Cerebroretinal Vasculopathy

  • Herns

  • Vasculopathy, Retinal, With Cerebral Leukodystrophy, Formerly

  • Hereditary Cerebroretinal Vasculopathy

  • Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke

  • Hereditary Systemic Angiopathy

  • Hsa

  • Retinal Vasculopathy With Cerebral Leukodystrophy With Systemic Manifestations

  • Adrvcl

  • Autosomal Dominant Retinal Vasculopathy With Cerebral Leukodystrophy

  • Hereditary Endotheliopathy With Retinopathy-Nephropathy-Stroke

  • Vascular Retinopathy With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

Brain Small Vessel Disease 3
  • BSVD3

Brain Small Vessel Disease 2
  • Porencephaly 2

  • BSVD2

  • Gould Syndrome 2

  • Porencephaly 2, Formerly

  • Poren2, Formerly

  • Poren2

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

Phacolytic Glaucoma
X-Linked Alport Syndrome
  • Nephropathy And Deafness, X-Linked

Pseudo-Torch Syndrome 1
  • Pseudo-Torch Syndrome

  • Band-Like Calcification With Simplified Gyration And Polymicrogyria

  • Blcpmg

  • PTORCH1

  • Baraitser-Brett-Piesowicz Syndrome

  • Baraitser-Reardon Syndrome

  • Bilateral Band-Like Calcification With Polymicrogyria

  • Blc-Pmg

  • Microcephaly-Intracranial Calcification-Intellectual Disability Syndrome

  • Congenital Intrauterine Infection-Like Syndrome

  • Baraitser Brett Piesowicz Syndrome

  • Microcephaly - Intracranial Calcification - Intellectual Disability

Peters-Plus Syndrome
  • Krause-Kivlin Syndrome

  • Peters Plus Syndrome

  • Peters Anomaly

  • Irido-Corneo-Trabecular Dysgenesis

  • PTRPLS

  • Peters Anomaly With Short-Limb Dwarfism

  • Peters Anomaly-Short Limb Dwarfism Syndrome

  • Peters Anomaly With Short Limb Dwarfism

  • Peters Congenital Glaucoma

  • Krause-Van Schooneveld-Kivlin Syndrome

  • Peters' Plus Syndrome

  • Peters'-Plus Syndrome

  • Anomaly Peters

Spastic Cerebral Palsy
  • Palsy, Cerebral, Spastic

  • Infantile Hemiplegia Nos

  • Postnatal Infantile Hemiplegia Nos

  • Congenital Spastic Hemiplegia

  • Spastic Hemiplegic Cerebral Palsy

  • Congenital Hemiplegia Nos

  • Hemiplegic Cerebral Palsy

  • Hemiplegic Infantile Cerebral Palsy

Combined Oxidative Phosphorylation Deficiency 13
  • COXPD13

  • Combined Oxidative Phosphorylation Defect Type 13

  • Combined Oxidative Phosphorylation Deficiency, Type 13

Autosomal Recessive Alport Syndrome
  • Alport Syndrome, Recessive Type

  • Alport Syndrome, Autosomal Recessive

  • Alport Syndrome Autosomal Recessive

  • Alport Syndrome Recessive Type

  • Nephropathy And Deafness

Hematuria, Benign Familial
  • Benign Familial Hematuria

  • BFH

  • Thin Membrane Nephropathy

  • Tmn

  • Thin Basement Membrane Nephropathy

  • Thin-Basement-Membrane Nephropathy

  • Hematuria, Familial Benign

  • Hematuria Benign Familial

  • Hematuria, Benign, Familial

  • Thin Basement Membrane Disease

Keratoconus
  • Kc

  • Conical Cornea

  • Noninflammatory Corneal Thining

  • Bulging Cornea

  • Cornea Conical

  • Acquired Conus Of Cornea

Autosomal Dominant Alport Syndrome
  • Alport Syndrome, Autosomal Dominant

  • Alport Syndrome Dominant Type

  • Renal Failure And Sensorineural Hearing Loss

  • Alport Syndrome, Dominant Type

Aortic Valve Prolapse
Kidney Disease
  • Renal Failure

  • Kidney Failure

  • Kidney Diseases

  • Nephropathy

  • Abnormality Of The Kidney

  • Impaired Renal Function Disease

  • Renal Anomaly

  • Kidney Dysfunction

  • Renal Disease

  • Nephropathies

  • Renal Failure Adverse Event

  • Abnormal Renal Function

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
  • Cadasil

  • Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

  • Casil

  • Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

  • Familial Vascular Leukoencephalopathy

  • CADASIL1

  • Cadasil 1

  • Hereditary Multi-Infarct Dementia

  • Cadasil Syndrome

  • Dementia, Hereditary Multiinfarct Type

  • Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy 1

  • Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 1

  • Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts Leukoencephalopathy

  • Dementia, Hereditary Multi-Infarct Type

  • Hereditary Dementia, Multi-Infarct Type

  • Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy

  • Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 1

  • Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant

  • Dementia Hereditary Multiinfarct Type

  • Dementia Hereditary Multi-Infarct Type

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

Corneal Dystrophy, Posterior Polymorphous, 1
  • Posterior Polymorphous Corneal Dystrophy

  • Ppcd

  • Maumenee Corneal Dystrophy

  • Posterior Polymorphous Corneal Dystrophy 1

  • PPCD1

  • Corneal Dystrophy, Hereditary Polymorphous Posterior

  • Corneal Endothelial Dystrophy 1, Autosomal Dominant

  • Schlichting Dystrophy

  • Ched1

  • Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly

  • Ched1, Formerly

  • Hereditary Polymorphus Posterior Corneal Dystrophy

  • Posterior Polymorphous Dystrophy

  • Hereditary Polymorphous Posterior Corneal Dystrophy

  • Dystrophy, Corneal, Posterior Polymorphous

  • Dystrophy, Corneal, Posterior Polymorphous, Type 1

  • Polymorphous Corneal Dystrophy

  • Corneal Endothelial Dystrophy 2

Cataract
  • Cataracts

  • Cat - [Cataract]

  • Cataract Form

  • Lens Opacity

  • Lens Opacities

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

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

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

Cerebral Degeneration
  • Brain Degeneration

  • Degenerative Brain Disorder

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

Ullrich Congenital Muscular Dystrophy 1
  • Ullrich Congenital Muscular Dystrophy

  • Ullrich Disease

  • Ucmd

  • Ullrich Scleroatonic Muscular Dystrophy

  • Scleroatonic Muscular Dystrophy

  • UCMD1

  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22

  • Lgmdr22

  • Muscular Dystrophy, Scleroatonic

  • Late Onset Scleroatonic Familial Myopathy

  • Congenital Muscular Dystrophy, Ullrich Type

Meningioma, Familial
  • Meningioma

  • Familial Meningioma

  • Meningioma, Familial, Susceptibility To

  • Meningeal Neoplasm

  • Meningeal Neoplasms

  • Meningiomas

  • Meningioma, Nf2-Related, Somatic

  • Meningioma, Sis-Related

  • Meningothelial Cell Tumor

  • Neoplasm Of The Meninges

  • Primary Meningeal Tumor

  • Familial Multiple Meningioma

  • MNGMA

  • Meningioma, Benign, No Icd-O Subtype

  • Intracranial Meningioma

  • Meningothelial Cell Neoplasm

  • Supratentorial Meningioma

  • Primary Neoplasm Of Spinal Meninges

  • Benign Intracranial Meningioma

  • Benign Meningioma

  • Meningeal Tumours

  • Meningeal Sarcoma Of Unspecified Site

  • Meningothelial Sarcoma Of Unspecified Site

Ehlers-Danlos Syndrome
  • Eds

  • Cutis Hyperelastica

  • Elastic Skin

  • Ehlers-Danlos Syndromes

  • Ed Syndrome

  • Ehlers Danlos Syndrome

  • Ehlers Danlos Disease

  • Eds - [Ehlers-Danlos Syndrome]

Leukodystrophy
  • Leukodystrophies

Patent Foramen Ovale
  • Atrial Septal Defect Within Oval Fossa

  • Foramen Ovale Patent

  • Ostium Secundum Atrial Septal Defect

  • Atrial Septal Defect, Ostium Secundum Type

  • Foramen Ovale, Patent

  • Defect, Patent Or Persistent, Ostium Secundum

  • Ostium Secundum Type Atrial Septal Defect

  • Persistent Ostium Secundum

  • Asd Ostium Secundum Type

  • Ostium Secundum Asd

  • Osasd

  • Asd, Ostium Secundum Type

  • Pfo - [Patent Foramen Ovale]

  • Open Foramen Ovale

  • Open Oval Foramen

  • Persistent Foramen Ovale

  • Secundum Atrial Septal Defect

Migraine With Or Without Aura 1
  • Migraine

  • Migraine With Or Without Aura, Susceptibility To, 1

  • Migraine Disorder

  • Migraine Variant

  • Migraines

  • Migraine Disorders

  • Mgr1

  • Mgau

  • Ma

  • Migraine With Or Without Aura

  • Classic Migraine

  • Common Migraine

  • Disorder, Migraine

  • Headache Migraine

  • Headache Migrainous

  • Migraine Headache

  • Migraine Syndrome

  • Headache Including Migraine

  • Migraine, Susceptibility To

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

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
Canis familiaris COL4A1 VGNC VGNC:39473
Felis catus COL4A1 VGNC VGNC:61060
Rattus norvegicus COL4A1 RGD RGD:1307148
Mus musculus COL4A1 MGD MGI:88454
Bos taurus COL4A1 VGNC VGNC:50081
Macaca mulatta COL4A1 VGNC VGNC:71297
Others COL4A1 NCBI