Aliases for COL27A1 Gene
Aliases for COL27A1 Gene
External Ids for COL27A1 Gene
- HGNC: 22986
- Entrez Gene: 85301
- Ensembl: ENSG00000196739
- OMIM: 608461
- UniProtKB: Q8IZC6
Previous GeneCards Identifiers for COL27A1 Gene
- GC09P110371
- GC09P112294
- GC09P112293
- GC09P113997
- GC09P115957
- GC09P116917
- GC09P086524
- GC09P114155
- GC09P114156
Summaries for COL27A1 Gene
-
This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]
GeneCards Summary for COL27A1 Gene
COL27A1 (Collagen Type XXVII Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL27A1 include Steel Syndrome and Cervix Uteri Carcinoma In Situ. Among its related pathways are Collagen chain trimerization and Phospholipase-C Pathway. GO annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is COL24A1.
UniProtKB/Swiss-Prot for COL27A1 Gene
-
Plays a role during the calcification of cartilage and the transition of cartilage to bone.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL27A1 Gene
Genomics for COL27A1 Gene
Regulatory Elements for COL27A1 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 |
|---|---|---|---|---|---|---|---|---|
| GH09G114169 | 1.8 | FANTOM5 Ensembl ENCODE dbSUPER | 35.1 | +43.4 | 43429 | 9.5 | PKNOX1 MLX ARID4B DMAP1 YBX1 ZNF48 YY1 ZNF143 FOS SP5 | COL27A1 MIR455 ORM1 GC09P114397 GC09P114318 GC09P114317 |
| GH09G114180 | 1.1 | Ensembl ENCODE dbSUPER | 29.7 | +51.1 | 51052 | 2.4 | ZBED1 BHLHE40 JUNB EED TCF7 HNF4G HNF4A ETV6 CREM | COL27A1 MIR455 GC09P114397 GC09P114318 GC09P114317 |
| GH09G113964 | 2.4 | VISTA FANTOM5 ENCODE | 9.7 | -164.3 | -164334 | 3.7 | MAX NR3C1 ZNF644 RAD21 FOXA1 NR2F2 GABPA YY1 JUND ATF3 | COL27A1 AMBP GC09P114396 ZNF618 |
| GH09G114162 | 1.4 | Ensembl ENCODE dbSUPER | 11.7 | +33.4 | 33399 | 2.0 | ELF3 MLX ARID4B ZNF48 ZSCAN9 RAD21 RARA YY1 THAP11 MXD4 | COL27A1 MIR455 GC09P114397 LOC105376225 |
| GH09G114276 | 0.9 | Ensembl ENCODE | 17.8 | +147.7 | 147744 | 3.8 | CTCF BHLHE40 NR3C1 JUND CREB1 SMC3 FOS MAFK TCF7L2 NFE2L2 | COL27A1 MIR455 WHRN LOC105376224 |
- Transcription factor binding sites by QIAGEN in the COL27A1 gene promoter:
Regulatory Element Products
Genomic Location for COL27A1 Gene
- Chromosome:
- 9
- Start:
- 114,130,331 bp from pter
- End:
- 114,312,516 bp from pter
- Size:
- 182,186 bases
- Orientation:
- Plus strand
Genomic View for COL27A1 Gene
- Cytogenetic band:
-
- 9q32 by Ensembl
- 9q32 by Entrez Gene
- 9q32 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for COL27A1 Gene
Proteins for COL27A1 Gene
-
Protein details for COL27A1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8IZC6-CORA1_HUMAN
- Recommended name:
- Collagen alpha-1(XXVII) chain
- Protein Accession:
- Q8IZC6
- Q66K43
- Q96JF7
Protein attributes for COL27A1 Gene
- Size:
- 1860 amino acids
- Molecular mass:
- 186892 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAB47499.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for COL27A1 Gene
Post-translational modifications for COL27A1 Gene
Other Protein References for COL27A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for COL27A1
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- antibodies-online Antibodies for COL27A1: See all 3
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Protein Products
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Assay Products
- antibodies-online Kits for COL27A1: See all 9
No data available for DME Specific Peptides for COL27A1 Gene
Domains & Families for COL27A1 Gene
Gene Families for COL27A1 Gene
- HGNC:
Protein Domains for COL27A1 Gene
Suggested Antigen Peptide Sequences for COL27A1 Gene
Graphical View of Domain Structure for InterPro Entry
Q8IZC6UniProtKB/Swiss-Prot:
CORA1_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.
Function for COL27A1 Gene
Molecular function for COL27A1 Gene
- UniProtKB/Swiss-Prot Function:
- Plays a role during the calcification of cartilage and the transition of cartilage to bone.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005201 | extracellular matrix structural constituent | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for COL27A1 Gene
- MGI mutant phenotypes for COL27A1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for COL27A1:
Animal Model Products
-
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for COL27A1 gene
-
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- Search ViGene Biosciences for COL27A1
CRISPR Products
-
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-
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- GenScript: Design CRISPR guide RNA sequences for COL27A1
miRNA for COL27A1 Gene
- miRTarBase miRNAs that target COL27A1
miRNA Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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-
Horizon Cell Lines for COL27A1
-
ViGene Biosciences adenoviral particle packaged cDNA for COL27A1 gene
-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for COL27A1 Gene
Localization for COL27A1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for COL27A1 Gene
- Secreted, extracellular space, extracellular matrix. Note=Found on some small banded collagen fibrils and meshworks. {ECO:0000250}.
| 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:0005583 | fibrillar collagen trimer | IEA | -- |
| GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
Pathways & Interactions for COL27A1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Collagen chain trimerization | ||
| 2 | Integrin Pathway |
.67
.67
.56
|
.56
|
| 3 | ERK Signaling |
.61
.58
|
.49
|
| 4 | Phospholipase-C Pathway |
.56
|
|
| 5 | Degradation of the extracellular matrix | ||
Pathways by source for COL27A1 Gene
5 Reactome pathways for COL27A1 Gene
1 KEGG pathway for COL27A1 Gene
15 Qiagen pathways for COL27A1 Gene
Interacting Proteins for COL27A1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003431 | growth plate cartilage chondrocyte development | IEA | -- |
| GO:0030198 | extracellular matrix organization | IEA | -- |
No data available for SIGNOR curated interactions for COL27A1 Gene
Transcripts for COL27A1 Gene
mRNA/cDNA for COL27A1 Gene
- (11) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (231) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for COL27A1 Gene
CRISPR Products
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miRNA Products
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Inhibitory RNA Products
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ViGene Biosciences ready-to-package AAV shRNAs for COL27A1 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for COL27A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL27A1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression for COL27A1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
-
Eye (Sensory Organs)
- Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
-
Epithelial Cells
- Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
-
Extraembryonic Mesoderm (Extraembryonic Tissues)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
-
Endothelium (Cardiovascular System)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
- Lung (Respiratory System)
- Limb (Muscoskeletal System)
- Adipose (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for COL27A1 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for COL27A1 Gene
NURSA nuclear receptor signaling pathways regulating expression of COL27A1 Gene:
COL27A1SOURCE GeneReport for Unigene cluster for COL27A1 Gene:
Hs.494892Evidence on tissue expression from TISSUES for COL27A1 Gene
- Skin(4.2)
- Nervous system(4.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for COL27A1 Gene
- ectoderm
- endoderm
- mesoderm
- nervous
- respiratory
- skeleton
- eye
- face
- forehead
- head
- nose
- skull
- lung
- rib
- rib cage
- pelvis
- arm
- forearm
- radius
- upper limb
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for COL27A1
No data available for mRNA Expression by UniProt/SwissProt for COL27A1 Gene
Orthologs for COL27A1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | COL27A1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | COL27A1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | COL27A1 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Col27a1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Col27a1 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | COL27A1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
ManyToMany | |
| chicken (Gallus gallus) |
Aves | COL27A1 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | COL27A1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100490770 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | col27a1b 35 |
|
OneToMany | |
| col27a1a 35 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for COL27A1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- fruit fly (Drosophila melanogaster)
- 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 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)
Paralogs for COL27A1 Gene
Paralogs for COL27A1 Gene
(5) SIMAP similar genes for COL27A1 Gene using alignment to 4 proteins:
Variants for COL27A1 Gene
| SNP ID | Clin | Chr 09 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs140950220 | Pathogenic, Steel syndrome (STLS) [MIM:615155] | 114,195,977(+) | TGCCT(C/G)GGCTC | nc-transcript-variant, reference, missense, utr-variant-5-prime | |
| rs1000004375 | -- | 114,204,751(+) | AGCCC(C/T)GAGAG | intron-variant | |
| rs1000021744 | -- | 114,171,030(+) | GCGGA(A/G)CTGGC | intron-variant | |
| rs1000039044 | -- | 114,234,937(+) | AGCTG(A/G)GCGTG | intron-variant | |
| rs1000050541 | -- | 114,245,380(+) | TCGAA(C/T)TCCTG | intron-variant |
Relevant External Links for COL27A1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL27A1 Gene
Disorders for COL27A1 Gene
(2) MalaCards diseases for COL27A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| steel syndrome |
|
|
| cervix uteri carcinoma in situ |
|
|
UniProtKB/Swiss-Prot
CORA1_HUMAN- Steel syndrome (STLS) [MIM:615155]: A syndrome characterized by dislocated hips and radial heads, fusion of carpal bones, short stature, scoliosis, and cervical spine anomalies. Facial features include prominent forehead, long oval-shaped face, hypertelorism and broad nasal bridge. {ECO:0000269 PubMed:24986830}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for COL27A1
No data available for Genatlas for COL27A1 Gene
Publications for COL27A1 Gene
- Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1. (PMID: 12714037) Pace J.M. … Byers P.H. (Matrix Biol. 2003) 2 3 4 64
- Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. (PMID: 24986830) Gonzaga-Jauregui C. … Hecht J.T. (Eur. J. Hum. Genet. 2014) 3 4 64
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
- Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson D.F. … Stefansson K. (Nat. Genet. 2008) 3 46 64
- Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira A.R. … Marazita M.L. (Genet. Med. 2008) 3 46 64
Products for COL27A1 Gene
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- antibodies-online Antibodies for COL27A1: See all 3
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- ViGene Biosciences adenoviral particle packaged cDNA for COL27A1 gene
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- VectorBuilder custom plasmid, inducible vectors for COL27A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL27A1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for COL27A1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer




