This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric mol... See more...

Aliases for COL9A1 Gene

Aliases for COL9A1 Gene

  • Collagen Type IX Alpha 1 Chain 2 3 5
  • Collagen, Type IX, Alpha 1 2 3
  • Collagen Alpha-1(IX) Chain 3 4
  • Cartilage-Specific Short Collagen 3
  • Collagen IX, Alpha-1 Polypeptide 3
  • Alpha-1(IX) Collagen Chain 3
  • DJ149L1.1.2 3
  • COL9A1 5
  • EDM6 3
  • STL4 3
  • MED 3

External Ids for COL9A1 Gene

Previous GeneCards Identifiers for COL9A1 Gene

  • GC06M070884
  • GC06M070921
  • GC06M070982
  • GC06M068124
  • GC06M070924

Summaries for COL9A1 Gene

Entrez Gene Summary for COL9A1 Gene

  • This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for COL9A1 Gene

COL9A1 (Collagen Type IX Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL9A1 include Epiphyseal Dysplasia, Multiple, 6 and Stickler Syndrome, Type Iv. Among its related pathways are Collagen chain trimerization and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent conferring tensile strength. An important paralog of this gene is COL4A5.

UniProtKB/Swiss-Prot Summary for COL9A1 Gene

Gene Wiki entry for COL9A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COL9A1 Gene

Genomics for COL9A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for COL9A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J070282 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 250.4 +20.4 20350 1.3 NCOR1 IKZF1 TAL1 SMARCA4 TAF1 ZBTB33 NRF1 TCF12 MTA2 NR2F6 HSALNG0051125 COL9A1 LMBRD1
GH06J070303 Promoter 0.3 EPDnew 250.7 0.0 -20 0.1 COL9A1 piR-56883-162 FAM135A
GH06J070336 Enhancer 0.9 ENCODE 11.1 -34.3 -34333 1.3 MYC NCOR1 IKZF1 NFIC NONO REST HES1 BHLHE40 MBD2 ARNT COL9A1 piR-56883-162 ENSG00000287300 FAM135A
GH06J070242 Enhancer 0.7 Ensembl 10 +60.6 60583 1 ZNF341 FOXA2 HCFC1 SAP130 ETV4 ELF1 RARA GABPB1 FOXP1 BCL6 piR-35674-452 COL9A1 RF00017-5119 ENSG00000253809 lnc-LMBRD1-3 LMBRD1
GH06J070130 Enhancer 0.8 Ensembl ENCODE 4.1 +171.3 171336 2.2 BCLAF1 BCL11A ZNF592 IRF4 BATF IKZF1 NFATC1 ATF2 JUNB TCF12 COL19A1 COL9A1 HSALNG0051119 HSALNG0051121 LMBRD1 NONHSAG044077.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COL9A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COL9A1

Top Transcription factor binding sites by QIAGEN in the COL9A1 gene promoter:
  • AP-4
  • C/EBPalpha
  • FOXD3
  • IRF-1
  • IRF-2
  • Nkx2-2
  • Pax-4a

Genomic Locations for COL9A1 Gene

Latest Assembly
chr6:70,215,061-70,303,084
(GRCh38/hg38)
Size:
88,024 bases
Orientation:
Minus strand

Previous Assembly
chr6:70,924,764-71,012,787
(GRCh37/hg19 by Entrez Gene)
Size:
88,024 bases
Orientation:
Minus strand

chr6:70,924,764-71,012,786
(GRCh37/hg19 by Ensembl)
Size:
88,023 bases
Orientation:
Minus strand

Genomic View for COL9A1 Gene

Genes around COL9A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL9A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL9A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL9A1 Gene

Proteins for COL9A1 Gene

  • Protein details for COL9A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20849-CO9A1_HUMAN
    Recommended name:
    Collagen alpha-1(IX) chain
    Protein Accession:
    P20849
    Secondary Accessions:
    • Q13699
    • Q13700
    • Q5TF52
    • Q6P467
    • Q96BM8
    • Q99225
    • Q9H151
    • Q9H152
    • Q9Y6P2
    • Q9Y6P3

    Protein attributes for COL9A1 Gene

    Size:
    921 amino acids
    Molecular mass:
    91869 Da
    Quaternary structure:
    • Heterotrimer of an alpha 1(IX), an alpha 2(IX) and an alpha 3(IX) chain.

    Three dimensional structures from OCA and Proteopedia for COL9A1 Gene

    Alternative splice isoforms for COL9A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL9A1 Gene

Post-translational modifications for COL9A1 Gene

  • Covalently linked to the telopeptides of type II collagen by lysine-derived cross-links.
  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • Glycosylation at Asn171
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Santa Cruz Biotechnology (SCBT) Antibodies for COL9A1

No data available for DME Specific Peptides for COL9A1 Gene

Domains & Families for COL9A1 Gene

Gene Families for COL9A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for COL9A1 Gene

InterPro:
Blocks:
  • Collagen triple helix repeat
  • Collagen helix repeat
  • Thrombospondin, N-terminal

Suggested Antigen Peptide Sequences for COL9A1 Gene

GenScript: Design optimal peptide antigens:
  • Collagen, type IX, alpha 1 (A6PVF8_HUMAN)
  • Collagen alpha-1(IX) chain (CO9A1_HUMAN)
  • Collagen, type IX, alpha 1 (Q5TF53_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20849

UniProtKB/Swiss-Prot:

CO9A1_HUMAN :
  • Each subunit is composed of three triple-helical domains interspersed with non-collagenous domains. The globular domain at the N-terminus of type IX collagen molecules represents the NC4 domain which may participate in electrostatic interactions with polyanionic glycosaminoglycans in cartilage.
  • Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.
Domain:
  • Each subunit is composed of three triple-helical domains interspersed with non-collagenous domains. The globular domain at the N-terminus of type IX collagen molecules represents the NC4 domain which may participate in electrostatic interactions with polyanionic glycosaminoglycans in cartilage.
Family:
  • Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.
genes like me logo Genes that share domains with COL9A1: view

Function for COL9A1 Gene

Molecular function for COL9A1 Gene

UniProtKB/Swiss-Prot Function:
Structural component of hyaline cartilage and vitreous of the eye.
GENATLAS Biochemistry:
collagen,type IX,alpha 1,fibril associated collagen with interrupted triple helices (FACIT),expressed in cartilage

Phenotypes From GWAS Catalog for COL9A1 Gene

Gene Ontology (GO) - Molecular Function for COL9A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IBA 21873635
GO:0005515 protein binding IPI 32814053
GO:0030020 extracellular matrix structural constituent conferring tensile strength RCA 25037231
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with COL9A1: view
genes like me logo Genes that share phenotypes with COL9A1: view

Human Phenotype Ontology for COL9A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COL9A1 Gene

MGI Knock Outs for COL9A1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL9A1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COL9A1 Gene

Localization for COL9A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL9A1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COL9A1 gene
Compartment Confidence
extracellular 4
endoplasmic reticulum 4
plasma membrane 3
mitochondrion 2
nucleus 2
cytoskeleton 1
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for COL9A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer IEA --
GO:0005594 collagen type IX trimer TAS 9707347
GO:0005604 basement membrane IBA 21873635
GO:0005615 extracellular space IBA 21873635
genes like me logo Genes that share ontologies with COL9A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COL9A1 Gene

Pathways & Interactions for COL9A1 Gene

PathCards logo

SuperPathways for COL9A1 Gene

SuperPathway Contained pathways
1 Collagen chain trimerization
.48
.46
2 Integrin Pathway
.67
.67
.56
.56
.50
.38
3 ERK Signaling
.61
.61
.58
.51
.49
4 Degradation of the extracellular matrix
5 ECM-receptor interaction
genes like me logo Genes that share pathways with COL9A1: view

Pathways by source for COL9A1 Gene

15 Qiagen pathways for COL9A1 Gene
  • Blood Coagulation Cascade
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling

Gene Ontology (GO) - Biological Process for COL9A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009887 animal organ morphogenesis TAS 3473493
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with COL9A1: view

No data available for SIGNOR curated interactions for COL9A1 Gene

Drugs & Compounds for COL9A1 Gene

No Compound Related Data Available

Transcripts for COL9A1 Gene

mRNA/cDNA for COL9A1 Gene

5 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL9A1

Alternative Splicing Database (ASD) splice patterns (SP) for COL9A1 Gene

No ASD Table

Relevant External Links for COL9A1 Gene

GeneLoc Exon Structure for
COL9A1

Expression for COL9A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COL9A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL9A1 Gene

This gene is overexpressed in Brain - Substantia nigra (x4.9), Prostate (x4.8), and Brain - Putamen (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for COL9A1 Gene

This gene is overexpressed in Vitreous humor (53.8) and Pancreatic juice (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for COL9A1 Gene



Protein tissue co-expression partners for COL9A1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COL9A1

SOURCE GeneReport for Unigene cluster for COL9A1 Gene:

Hs.590892

Evidence on tissue expression from TISSUES for COL9A1 Gene

  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COL9A1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with COL9A1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt for COL9A1 Gene

Orthologs for COL9A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL9A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia COL9A1 29 30
  • 99.53 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia COL9A1 29 30
  • 90.69 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Col9a1 29 16 30
  • 86.78 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Col9a1 29
  • 86.16 (n)
Oppossum
(Monodelphis domestica)
Mammalia COL9A1 30
  • 86 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia COL9A1 30
  • 84 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia COL9A1 30
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves COL9A1 29 30
  • 73.41 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 73 (a)
OneToMany
-- 30
  • 71 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia col9a1 29
  • 66.74 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16042 29
Zebrafish
(Danio rerio)
Actinopterygii zgc:194937 29
  • 64.68 (n)
COL9A1 (2 of 2) 30
  • 64 (a)
OneToMany
col9a1 30
  • 63 (a)
OneToMany
-- 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG42342 30
  • 28 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea col-99 30
  • 31 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4013 30
  • 45 (a)
OneToOne
Species where no ortholog for COL9A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for COL9A1 Gene

ENSEMBL:
Gene Tree for COL9A1 (if available)
TreeFam:
Gene Tree for COL9A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COL9A1: view image
Alliance of Genome Resources:
Additional Orthologs for COL9A1

Paralogs for COL9A1 Gene

(6) SIMAP similar genes for COL9A1 Gene using alignment to 2 proteins:

  • CO9A1_HUMAN
  • A6NEQ6_HUMAN
genes like me logo Genes that share paralogs with COL9A1: view

Variants for COL9A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COL9A1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
1001797 Uncertain Significance: not provided 70,272,082(-) CA/TG
NM_001851.6(COL9A1):c.1071_1072inv (p.Gly358Ser)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1002054 Uncertain Significance: not provided 70,280,817(-) C/A
NM_001851.6(COL9A1):c.970G>T (p.Ala324Ser)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1002350 Uncertain Significance: not provided 70,294,360(-) G/C
NM_001851.6(COL9A1):c.503C>G (p.Ala168Gly)
MISSENSE
1003004 Uncertain Significance: not provided 70,254,477(-) G/A
NM_001851.6(COL9A1):c.1718C>T (p.Pro573Leu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1005998 Uncertain Significance: not provided 70,281,439(-) G/A
NM_001851.6(COL9A1):c.827C>T (p.Pro276Leu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for COL9A1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for COL9A1 Gene

Variant ID Type Subtype PubMed ID
esv3409895 CNV insertion 20981092
nsv1027049 CNV gain 25217958
nsv472376 CNV novel sequence insertion 20440878
nsv524328 CNV gain 19592680
nsv830683 CNV gain 17160897

Variation tolerance for COL9A1 Gene

Residual Variation Intolerance Score: 45.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.93; 98.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COL9A1 Gene

Human Gene Mutation Database (HGMD)
COL9A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL9A1
Leiden Open Variation Database (LOVD)
COL9A1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL9A1 Gene

Disorders for COL9A1 Gene

MalaCards: The human disease database

(46) MalaCards diseases for COL9A1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

UniProtKB/Swiss-Prot

CO9A1_HUMAN
  • Multiple epiphyseal dysplasia 6 (EDM6) [MIM:614135]: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. {ECO:0000269 PubMed:11565064}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Stickler syndrome 4 (STL4) [MIM:614134]: An autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable. {ECO:0000269 PubMed:16909383}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for COL9A1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with COL9A1: view

No data available for Genatlas for COL9A1 Gene

Publications for COL9A1 Gene

  1. A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. (PMID: 16909383) Van Camp G … Usami S (American journal of human genetics 2006) 3 4 22 72
  2. A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. (PMID: 11565064) Czarny-Ratajczak M … Ala-Kokko L (American journal of human genetics 2001) 3 4 22 72
  3. [Analysis of association between COL9A1 gene and idiopathic congenital talipes equinovarus]. (PMID: 17548304) Liu LY … Sun KL (Yi chuan = Hereditas 2007) 3 22 40
  4. Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. (PMID: 15523498) Jakkula E … Ala-Kokko L (European journal of human genetics : EJHG 2005) 3 22 40
  5. Evidence for a role of the genomic region of the gene encoding for the alpha1 chain of type IX collagen (COL9A1) in hip osteoarthritis: A population-based study. (PMID: 15880806) Alizadeh BZ … Duijn CM (Arthritis and rheumatism 2005) 3 22 40

Products for COL9A1 Gene

Sources for COL9A1 Gene