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Aliases for COL1A1 Gene

Aliases for COL1A1 Gene

  • Collagen Type I Alpha 1 Chain 2 3 5
  • Collagen, Type I, Alpha 1 2 3
  • Alpha-1 Type I Collagen 3 4
  • Collagen Of Skin, Tendon And Bone, Alpha-1 Chain 3
  • Collagen Alpha-1(I) Chain Preproprotein 3
  • Type I Procollagen Alpha 1 Chain 3
  • Collagen Alpha 1 Chain Type I 3
  • Pro-Alpha-1 Collagen Type 1 3
  • Collagen Alpha-1(I) Chain 3
  • Alpha1(I) Procollagen 3
  • Type I Proalpha 1 3
  • EDSC 3
  • OI1 3
  • OI2 3
  • OI3 3
  • OI4 3

External Ids for COL1A1 Gene

Previous GeneCards Identifiers for COL1A1 Gene

  • GC17M047864
  • GC17M050742
  • GC17M048602
  • GC17M048736
  • GC17M045617
  • GC17M048260
  • GC17M043632

Summaries for COL1A1 Gene

Entrez Gene Summary for COL1A1 Gene

  • This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

GeneCards Summary for COL1A1 Gene

COL1A1 (Collagen Type I Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL1A1 include Caffey Disease and Osteogenesis Imperfecta, Type I. Among its related pathways are Focal Adhesion and Phospholipase-C Pathway. GO annotations related to this gene include identical protein binding and platelet-derived growth factor binding. An important paralog of this gene is COL2A1.

UniProtKB/Swiss-Prot for COL1A1 Gene

  • Type I collagen is a member of group I collagen (fibrillar forming collagen).

Gene Wiki entry for COL1A1 Gene

Additional gene information for COL1A1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL1A1 Gene

Genomics for COL1A1 Gene

Regulatory Elements for COL1A1 Gene

Enhancers for COL1A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H049758 1.9 VISTA Ensembl ENCODE dbSUPER 19.5 +439.7 439699 6 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF207 FOS ENSG00000262837 UBE2Z LUC7L3 FAM117A FLJ45513 SPOP COL1A1 TAC4 SLC35B1 ITGA3
GH17H050171 2 FANTOM5 Ensembl ENCODE dbSUPER 16.9 +9.1 9127 41 DMAP1 YBX1 YY1 ZNF143 SP3 MEF2D ZNF610 GLIS1 RCOR2 NBN SGCA ENSG00000262837 FLJ45513 TMEM92-AS1 COL1A1 TMEM92 XYLT2 ZNF652 PPP1R9B LUC7L3
GH17H051152 1.2 ENCODE 27.9 -952.0 -952031 2 MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 NFYC MBTD1 LUC7L3 NME1 COL1A1 UTP18 NME2 LOC105371824 CACNA1G-AS1 SPAG9 SGCA
GH17H050262 1.9 FANTOM5 Ensembl ENCODE dbSUPER 16.4 -67.5 -67533 13 HDGF PKNOX1 ATF1 SIN3A GLI4 ZBTB7B ZNF121 GLIS2 ZNF143 ATF7 MBTD1 ENSG00000262837 TMEM92 COL1A1 LUC7L3 LOC105371824 MYCBPAP FAM117A FLJ45513 NME1
GH17H049735 2.3 VISTA FANTOM5 Ensembl ENCODE dbSUPER 10.8 +458.4 458431 15 HNRNPUL1 HDGF PKNOX1 ARNT SIN3A FEZF1 YY1 ZNF766 ZNF143 FOS ENSG00000262837 LUC7L3 UBE2Z FAM117A KAT7 FLJ45513 NXPH3 ZNF652 ENSG00000230532 SLC35B1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COL1A1 on UCSC Golden Path with GeneCards custom track

Promoters for COL1A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000095625 1248 2401 PKNOX1 SIN3A ZNF2 ZBTB7B YY1 ZNF143 ZNF207 SP3 SP5 REST

Genomic Location for COL1A1 Gene

Chromosome:
17
Start:
50,183,289 bp from pter
End:
50,201,648 bp from pter
Size:
18,360 bases
Orientation:
Minus strand

Genomic View for COL1A1 Gene

Genes around COL1A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL1A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL1A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL1A1 Gene

Proteins for COL1A1 Gene

  • Protein details for COL1A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02452-CO1A1_HUMAN
    Recommended name:
    Collagen alpha-1(I) chain
    Protein Accession:
    P02452
    Secondary Accessions:
    • O76045
    • P78441
    • Q13896
    • Q13902
    • Q13903
    • Q14037
    • Q14992
    • Q15176
    • Q15201
    • Q16050
    • Q59F64
    • Q7KZ30
    • Q7KZ34
    • Q8IVI5
    • Q8N473
    • Q9UML6
    • Q9UMM7

    Protein attributes for COL1A1 Gene

    Size:
    1464 amino acids
    Molecular mass:
    138941 Da
    Quaternary structure:
    • Trimers of one alpha 2(I) and two alpha 1(I) chains. Interacts with MRC2 (By similarity). Interacts with TRAM2 (PubMed:14749390). Interacts with MFAP4 in a Ca (2+)-dependent manner (By similarity).
    SequenceCaution:
    • Sequence=BAD92834.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for COL1A1 Gene

neXtProt entry for COL1A1 Gene

Post-translational modifications for COL1A1 Gene

  • O-linked glycan consists of a Glc-Gal disaccharide bound to the oxygen atom of a post-translationally added hydroxyl group.
  • Proline residues at the third position of the tripeptide repeating unit (G-X-P) are hydroxylated in some or all of the chains. Proline residues at the second position of the tripeptide repeating unit (G-P-X) are hydroxylated in some of the chains.
  • Glycosylation at posLast=265265, posLast=478478, Lys1108, posLast=12341234, and Asn1365
  • Modification sites at PhosphoSitePlus

Other Protein References for COL1A1 Gene

No data available for DME Specific Peptides for COL1A1 Gene

Domains & Families for COL1A1 Gene

Gene Families for COL1A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

P02452

UniProtKB/Swiss-Prot:

CO1A1_HUMAN :
  • The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).
  • Belongs to the fibrillar collagen family.
Domain:
  • The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).
Family:
  • Belongs to the fibrillar collagen family.
genes like me logo Genes that share domains with COL1A1: view

Function for COL1A1 Gene

Molecular function for COL1A1 Gene

GENATLAS Biochemistry:
collagen type I,alpha 1,fibril forming,putative downregulated c-Myc target gene,
UniProtKB/Swiss-Prot Function:
Type I collagen is a member of group I collagen (fibrillar forming collagen).

Phenotypes From GWAS Catalog for COL1A1 Gene

Gene Ontology (GO) - Molecular Function for COL1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 19932771
GO:0005201 extracellular matrix structural constituent IEA --
GO:0005515 protein binding IPI 14749390
GO:0042802 identical protein binding IDA 17211858
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with COL1A1: view
genes like me logo Genes that share phenotypes with COL1A1: view

Human Phenotype Ontology for COL1A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COL1A1 Gene

MGI Knock Outs for COL1A1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for COL1A1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COL1A1 Gene

Localization for COL1A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL1A1 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 COL1A1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
cytoskeleton 3
nucleus 3
cytosol 3
plasma membrane 2
golgi apparatus 2
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COL1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA --
GO:0005584 collagen type I trimer IDA,IMP 14976317
GO:0005615 extracellular space IDA,IEA 20551380
genes like me logo Genes that share ontologies with COL1A1: view

Pathways & Interactions for COL1A1 Gene

genes like me logo Genes that share pathways with COL1A1: view

SIGNOR curated interactions for COL1A1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for COL1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IMP 1874719
GO:0001503 ossification IEA --
GO:0001568 blood vessel development IMP,IEA 17211858
GO:0001649 osteoblast differentiation IEA --
GO:0001957 intramembranous ossification IEA --
genes like me logo Genes that share ontologies with COL1A1: view

Drugs & Compounds for COL1A1 Gene

(21) Drugs for COL1A1 Gene - From: DrugBank, PharmGKB, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Collagenase Approved, Investigational Pharma Target 0
Somatotropin Approved, Investigational Pharma 0
Valproic Acid Approved, Investigational Pharma HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 331
Halofuginone Investigational, Vet_approved Pharma Target 5
calcium Nutra 0

(17) Additional Compounds for COL1A1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with COL1A1: view

Transcripts for COL1A1 Gene

Unigene Clusters for COL1A1 Gene

Collagen, type I, alpha 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for COL1A1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for COL1A1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^
SP1:
SP2: -
SP3:
SP4:
SP5: - - - - - - - - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - -
SP7:
SP8:
SP9: - - - - - - - - - - - - - - - - - - - -
SP10:
SP11:
SP12:

ExUns: 19a · 19b ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39a · 39b ^ 40 ^ 41 ^
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9: - - - - - - - - - - - - - - - - - - - - - - - - - -
SP10:
SP11:
SP12:

ExUns: 42 ^ 43 ^ 44 ^ 45a · 45b ^ 46a · 46b ^ 47 ^ 48a · 48b ^ 49a · 49b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9: - - - -
SP10:
SP11:
SP12:

Relevant External Links for COL1A1 Gene

GeneLoc Exon Structure for
COL1A1
ECgene alternative splicing isoforms for
COL1A1

Expression for COL1A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COL1A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for COL1A1 Gene

This gene is overexpressed in Amniocyte (36.6), Bone marrow stromal cell (6.9), and Urinary Bladder (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COL1A1 Gene



Protein tissue co-expression partners for COL1A1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COL1A1 Gene:

COL1A1

SOURCE GeneReport for Unigene cluster for COL1A1 Gene:

Hs.172928

mRNA Expression by UniProt/SwissProt for COL1A1 Gene:

P02452-CO1A1_HUMAN
Tissue specificity: Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite.

Evidence on tissue expression from TISSUES for COL1A1 Gene

  • Bone(5)
  • Skin(5)
  • Eye(4.8)
  • Lung(4.8)
  • Nervous system(4.8)
  • Liver(4.6)
  • Pancreas(4.5)
  • Intestine(4.4)
  • Spleen(4.3)
  • Heart(3.8)
  • Stomach(3.8)
  • Muscle(3.6)
  • Thyroid gland(3.2)
  • Kidney(3.1)
  • Gall bladder(2.9)
  • Bone marrow(2.1)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COL1A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • aorta
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • ureter
  • uterus
  • vagina
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:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with COL1A1: view

Primer Products

No data available for mRNA differential expression in normal tissues for COL1A1 Gene

Orthologs for COL1A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL1A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL1A1 33 34
  • 99.45 (n)
cow
(Bos Taurus)
Mammalia COL1A1 33 34
  • 93.6 (n)
dog
(Canis familiaris)
Mammalia COL1A1 33 34
  • 93.33 (n)
oppossum
(Monodelphis domestica)
Mammalia COL1A1 34
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col1a1 33
  • 90.16 (n)
mouse
(Mus musculus)
Mammalia Col1a1 33 16 34
  • 89.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COL1A1 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 19 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia COL1A1 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC496414 33
  • 79.57 (n)
African clawed frog
(Xenopus laevis)
Amphibia col1a1-prov 33
zebrafish
(Danio rerio)
Actinopterygii col1a1a 33 34
  • 75.84 (n)
col1a1b 34
  • 73 (a)
OneToMany
col1a1 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11698 33
fruit fly
(Drosophila melanogaster)
Insecta Cg25C 34
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7880 34
  • 54 (a)
OneToMany
Species where no ortholog for COL1A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for COL1A1 Gene

ENSEMBL:
Gene Tree for COL1A1 (if available)
TreeFam:
Gene Tree for COL1A1 (if available)

Paralogs for COL1A1 Gene

Variants for COL1A1 Gene

Sequence variations from dbSNP and Humsavar for COL1A1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs116794104 Osteogenesis imperfecta 2 (OI2) [MIM:166210] 50,195,466(+) ATCAG(C/T)ACCAG intron-variant, reference, missense
rs57377812 Osteogenesis imperfecta 2 (OI2) [MIM:166210] 50,194,756(+) GGGTC(C/G/T)GGGTT intron-variant, reference, missense
VAR_001644 Osteogenesis imperfecta 1 (OI1) [MIM:166200]
VAR_001645 Osteogenesis imperfecta 1 (OI1) [MIM:166200]
VAR_001646 Osteogenesis imperfecta 1 (OI1) [MIM:166200]

Structural Variations from Database of Genomic Variants (DGV) for COL1A1 Gene

Variant ID Type Subtype PubMed ID
esv2670012 CNV deletion 23128226
nsv952339 CNV deletion 24416366

Variation tolerance for COL1A1 Gene

Residual Variation Intolerance Score: 3.94% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.55; 44.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COL1A1 Gene

Human Gene Mutation Database (HGMD)
COL1A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL1A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL1A1 Gene

Disorders for COL1A1 Gene

MalaCards: The human disease database

(64) MalaCards diseases for COL1A1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
caffey disease
  • cortical congenital hyperostosis
osteogenesis imperfecta, type i
  • osteogenesis imperfecta type 1
osteogenesis imperfecta, type iv
  • osteogenesis imperfecta type 4
osteogenesis imperfecta, type iii
  • osteogenesis imperfecta type 3
osteogenesis imperfecta, type ii
  • osteogenesis imperfecta type 2
- elite association - COSMIC cancer census association via MalaCards