Aliases for BTN3A3 Gene
Aliases for BTN3A3 Gene
External Ids for BTN3A3 Gene
- HGNC: 1140
- Entrez Gene: 10384
- Ensembl: ENSG00000111801
- OMIM: 613595
- UniProtKB: O00478
Previous GeneCards Identifiers for BTN3A3 Gene
- GC06P026498
- GC06P026427
- GC06P026548
- GC06P026441
- GC06P026384
- GC06P026442
- GC06P026443
- GC06P026446
- GC06P026447
- GC06P026448
- GC06P026449
- GC06P026450
- GC06P026451
- GC06P026456
- GC06P026513
- GC06P026811
- GC06P026912
Summaries for BTN3A3 Gene
-
The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A3) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010]
GeneCards Summary for BTN3A3 Gene
BTN3A3 (Butyrophilin Subfamily 3 Member A3) is a Protein Coding gene. Among its related pathways are Innate Immune System and Butyrophilin (BTN) family interactions. An important paralog of this gene is BTN3A1.
UniProtKB/Swiss-Prot for BTN3A3 Gene
-
Plays a role in T-cell responses in the adaptive immune response.
Additional gene information for BTN3A3 Gene
- Monarch Initiative
- Search for BTN3A3 at DataMed
- Search for BTN3A3 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTN3A3 Gene
Genomics for BTN3A3 Gene
GeneHancer (GH) Regulatory Elements for BTN3A3 Gene
Promoters and enhancers for BTN3A3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around BTN3A3 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the BTN3A3 gene promoter:
Regulatory Element Products
Genomic Locations for BTN3A3 Gene
Genomic Locations for BTN3A3 Gene
- chr6:26,440,472-26,453,415
- (GRCh38/hg38)
- Size:
- 12,944 bases
- Orientation:
- Plus strand
- chr6:26,440,700-26,453,643
- (GRCh37/hg19)
Genomic View for BTN3A3 Gene
Genes around BTN3A3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p22.2 by Ensembl
- 6p22.2 by Entrez Gene
- 6p22.2 by HGNC
BTN3A3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for BTN3A3 Gene
Proteins for BTN3A3 Gene
-
Protein details for BTN3A3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O00478-BT3A3_HUMAN
- Recommended name:
- Butyrophilin subfamily 3 member A3
- Protein Accession:
- O00478
- B4DWI7
- E9PCP5
Protein attributes for BTN3A3 Gene
- Size:
- 584 amino acids
- Molecular mass:
- 65002 Da
- Quaternary structure:
-
- Homodimer.
Protein Expression for BTN3A3 Gene
Post-translational modifications for BTN3A3 Gene
- N-glycosylated.
- Glycosylation at Asn115
- Modification sites at PhosphoSitePlus
Other Protein References for BTN3A3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for BTN3A3
- Invitrogen Antibodies for BTN3A3
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Protein Products
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-
ProSci Proteins for BTN3A3
-
Abcam proteins for BTN3A3
Assay Products
No data available for DME Specific Peptides for BTN3A3 Gene
Domains & Families for BTN3A3 Gene
Gene Families for BTN3A3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Predicted membrane proteins
- Predicted secreted proteins
Protein Domains for BTN3A3 Gene
Suggested Antigen Peptide Sequences for BTN3A3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O00478- Family:
-
- Belongs to the immunoglobulin superfamily. BTN/MOG family.
Function for BTN3A3 Gene
Molecular function for BTN3A3 Gene
- GENATLAS Biochemistry:
- butyrophilin subfamily 3,member A3,B box family of proteins,involved in cell proliferation and development
- UniProtKB/Swiss-Prot Function:
- Plays a role in T-cell responses in the adaptive immune response.
Phenotypes From GWAS Catalog for BTN3A3 Gene
Phenotypes for BTN3A3 Gene
- GenomeRNAi human phenotypes for BTN3A3:
Animal Model Products
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CRISPR Products
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OriGene CRISPR knockouts for BTN3A3
- genomics-online: gRNA clones - Search results for 67 available BTN3A3 gene related products
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Vectors and viruses for KO, Activation, Repression, and more
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miRNA for BTN3A3 Gene
- miRTarBase miRNAs that target BTN3A3
-
- hsa-mir-335-5p (MIRT018863)
- hsa-mir-106b-5p (MIRT020447)
- hsa-mir-26b-5p (MIRT030012)
- hsa-mir-615-3p (MIRT039804)
- hsa-mir-21-5p (MIRT441093)
- hsa-mir-20a-5p (MIRT441094)
- hsa-mir-4524b-5p (MIRT559140)
- hsa-mir-4524a-5p (MIRT559141)
- hsa-mir-4660 (MIRT559142)
- hsa-mir-302a-5p (MIRT559143)
- hsa-mir-6736-3p (MIRT559144)
- hsa-mir-5692c (MIRT559145)
- hsa-mir-5692b (MIRT559146)
- hsa-mir-4274 (MIRT559147)
- hsa-mir-3163 (MIRT559148)
- hsa-mir-646 (MIRT559149)
- hsa-mir-1277-5p (MIRT559150)
- hsa-mir-513c-3p (MIRT559151)
- hsa-mir-513a-3p (MIRT559152)
- hsa-mir-3606-3p (MIRT559153)
- hsa-mir-548e-5p (MIRT559154)
- hsa-mir-15a-5p (MIRT559155)
- hsa-mir-15b-5p (MIRT559156)
- hsa-mir-195-5p (MIRT559157)
- hsa-mir-424-5p (MIRT559158)
- hsa-mir-497-5p (MIRT559159)
- hsa-mir-6838-5p (MIRT559160)
- hsa-mir-16-5p (MIRT559161)
- hsa-mir-503-5p (MIRT559162)
- hsa-mir-568 (MIRT572219)
- hsa-mir-527 (MIRT572220)
- hsa-mir-518a-5p (MIRT572221)
- hsa-mir-223-5p (MIRT572222)
- hsa-mir-219b-3p (MIRT572223)
- hsa-mir-22-3p (MIRT572224)
- hsa-mir-548p (MIRT572225)
- hsa-mir-186-5p (MIRT572226)
- hsa-mir-219a-2-3p (MIRT572227)
- hsa-mir-93-5p (MIRT728172)
- hsa-mir-519d-3p (MIRT728173)
- hsa-mir-20b-5p (MIRT728174)
- hsa-mir-17-5p (MIRT728175)
miRNA Products
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Inhibitory RNA Products
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Clone Products
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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
- Applied Biological Materials Clones for BTN3A3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
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ViGene Biosciences adenoviral particle packaged cDNA for BTN3A3 gene
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No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BTN3A3 Gene
Localization for BTN3A3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for BTN3A3 Gene
- Cell membrane; Single-pass type I membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 2 |
| cytosol | 2 |
| golgi apparatus | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0016020 | membrane | HDA,IEA | 19946888 |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for BTN3A3 Gene
Pathways & Interactions for BTN3A3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | Butyrophilin (BTN) family interactions | ||
| 3 | Innate Immune System |
.61
|
|
Pathways by source for BTN3A3 Gene
3 Reactome pathways for BTN3A3 Gene
Interacting Proteins for BTN3A3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002376 | immune system process | IEA | -- |
| GO:0002456 | T cell mediated immunity | IMP | 22767497 |
No data available for SIGNOR curated interactions for BTN3A3 Gene
Transcripts for BTN3A3 Gene
mRNA/cDNA for BTN3A3 Gene
- (3) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (107) Selected AceView cDNA sequences:
- (15) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for BTN3A3 Gene
CRISPR Products
-
OriGene CRISPR knockouts for BTN3A3
- genomics-online: gRNA clones - Search results for 67 available BTN3A3 gene related products
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Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BTN3A3
- GenScript: Design CRISPR guide RNA sequences for BTN3A3
miRNA Products
- Search ViGene Biosciences for BTN3A3
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for BTN3A3
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ViGene Biosciences ready-to-package AAV shRNAs for BTN3A3 gene
Clone Products
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- VectorBuilder custom plasmid, inducible vectors for BTN3A3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for BTN3A3
-
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
- Applied Biological Materials Clones for BTN3A3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for BTN3A3 Gene
This gene is overexpressed in Peripheral blood mononuclear cells (21.1), CD4 Tcells (10.0), CD8 Tcells (8.5), Frontal cortex (7.7), and Spleen (7.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BTN3A3 Gene
NURSA nuclear receptor signaling pathways regulating expression of BTN3A3 Gene:
BTN3A3SOURCE GeneReport for Unigene cluster for BTN3A3 Gene:
Hs.167741mRNA Expression by UniProt/SwissProt for BTN3A3 Gene:
O00478-BT3A3_HUMAN
Tissue specificity:
Detected in peripheral blood mononuclear cells and in T-cells (at protein level). Detected in spleen and lymphocytes.
Evidence on tissue expression from TISSUES for BTN3A3 Gene
- Liver(4.2)
Primer Products
-
OriGene qPCR primer pairs and template standards for BTN3A3
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Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BTN3A3 Gene
Orthologs for BTN3A3 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | BTN3A3 33 |
|
||
| BTN3A1 34 |
|
OneToOne | |||
| cow (Bos Taurus) |
Mammalia | BTN3A3 33 |
|
||
| -- 34 |
|
ManyToMany | |||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| dog (Canis familiaris) |
Mammalia | -- 34 |
|
ManyToMany | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
ManyToMany | |
| mouse (Mus musculus) |
Mammalia | Btnl4 34 |
|
ManyToMany | |
| zebrafish (Danio rerio) |
Actinopterygii | zgc:175177 33 |
|
- Species where no ortholog for BTN3A3 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)
- chicken (Gallus gallus)
- 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)
- lizard (Anolis carolinensis)
- 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)
- rat (Rattus norvegicus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for BTN3A3 Gene
Paralogs for BTN3A3 Gene
(22) SIMAP similar genes for BTN3A3 Gene using alignment to 9 proteins:
Pseudogenes.org Pseudogenes for BTN3A3 Gene
Variants for BTN3A3 Gene
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000131219 | -- | 26,451,294(+) | A/G | intron_variant | |
| rs1000329627 | -- | 26,449,482(+) | A/G | intron_variant | |
| rs1000446575 | -- | 26,442,945(+) | G/A | intron_variant | |
| rs1000742225 | -- | 26,444,809(+) | C/T | intron_variant | |
| rs1000940881 | -- | 26,439,434(+) | C/T | upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv5927n100 | CNV | gain | 25217958 |
| dgv5928n100 | CNV | loss | 25217958 |
| esv2731730 | CNV | deletion | 23290073 |
| esv2763996 | CNV | gain | 21179565 |
| esv3576106 | CNV | gain | 25503493 |
| esv3608402 | CNV | loss | 21293372 |
| esv3608406 | CNV | loss | 21293372 |
| esv3890802 | CNV | loss | 25118596 |
| nsv1017824 | CNV | gain+loss | 25217958 |
| nsv1023453 | CNV | gain | 25217958 |
| nsv528172 | CNV | loss | 19592680 |
| nsv601184 | CNV | gain | 21841781 |
| nsv969359 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
94.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.72;
46.48% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for BTN3A3 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- BTN3A3
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTN3A3 Gene
Disorders for BTN3A3 Gene
Additional Disease Information for BTN3A3
No disorders were found for BTN3A3 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BTN3A3 Gene
Publications for BTN3A3 Gene
- A 1.1-Mb transcript map of the hereditary hemochromatosis locus. (PMID: 9149941) Ruddy DA … Feder JN (Genome research 1997) 2 3 4 58
- Key implication of CD277/butyrophilin-3 (BTN3A) in cellular stress sensing by a major human γδ T-cell subset. (PMID: 22767497) Harly C … Scotet E (Blood 2012) 3 4 58
- Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z … Henzel WJ (Protein science : a publication of the Protein Society 2004) 3 4 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
- The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58
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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
- antibodies-online: Search results for 32 available BTN3A3 Antibodies ranked by validation data
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- Overview of 67 available BTN3A3 gene related products
- genomics-online: shRNA clones - Search results for 67 available BTN3A3 gene related products
- Overview of 67 available BTN3A3 gene related products
Sources for BTN3A3 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) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
