Aliases for GGH Gene
Aliases for GGH Gene
External Ids for GGH Gene
- HGNC: 4248
- Entrez Gene: 8836
- Ensembl: ENSG00000137563
- OMIM: 601509
- UniProtKB: Q92820
Previous GeneCards Identifiers for GGH Gene
- GC08M063291
- GC08M063867
- GC08M063650
- GC08M063977
- GC08M064090
- GC08M059415
- GC08M063928
Summaries for GGH Gene
-
This gene catalyzes the hydrolysis of folylpoly-gamma-glutamates and antifolylpoly-gamma-glutamates by the removal of gamma-linked polyglutamates and glutamate. [provided by RefSeq, Jul 2008]
GeneCards Summary for GGH Gene
GGH (Gamma-Glutamyl Hydrolase) is a Protein Coding gene. Diseases associated with GGH include Methotrexate Toxicity Or Dose Selection and Tropical Sprue. Among its related pathways are Innate Immune System and One carbon pool by folate. GO annotations related to this gene include hydrolase activity and exopeptidase activity.
UniProtKB/Swiss-Prot for GGH Gene
-
Hydrolyzes the polyglutamate sidechains of pteroylpolyglutamates. Progressively removes gamma-glutamyl residues from pteroylpoly-gamma-glutamate to yield pteroyl-alpha-glutamate (folic acid) and free glutamate. May play an important role in the bioavailability of dietary pteroylpolyglutamates and in the metabolism of pteroylpolyglutamates and antifolates.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GGH Gene
Genomics for GGH Gene
Regulatory Elements for GGH 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 |
|---|---|---|---|---|---|---|---|---|
| GH08G063007 | 1.1 | Ensembl ENCODE | 53.8 | +29.9 | 29863 | 3.9 | TBP NFIB ZBTB7B RAD21 RARA YY1 CEBPB NR2F2 ZNF217 ZNF579 | GGH ENSG00000240915 UG0898H09 |
| GH08G063038 | 1.1 | ENCODE | 20.4 | +0.3 | 334 | 2.0 | HDGF FOXA2 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF207 | GGH TTPA GC08P063039 |
| GH08G063032 | 0.9 | FANTOM5 ENCODE | 8.9 | +6.6 | 6552 | 0.2 | MAFG NFE2 NFE2L2 | YTHDF3 GGH GC08P063039 ENSG00000253121 |
| GH08G063146 | 0.9 | Ensembl ENCODE | 8.4 | -107.5 | -107545 | 1.0 | MAFG ELF1 GABPA ZNF316 ZNF512 FOXP2 MAFK EMSY SPI1 | GGH ENSG00000261542 GC08P063145 GC08P063158 GC08P063157 GC08P063156 GC08P063155 GC08P063154 PIR39522 GC08P063153 |
| GH08G062690 | 0.7 | ENCODE | 7 | +348.9 | 348875 | 1.1 | CTCF TEAD1 ZFP64 ZNF140 ZNF426 ZNF394 ZNF623 ZNF781 RAD21 ZNF518A | GGH PIR58504 GC08P062854 |
Regulatory Element Products
Genomic Location for GGH Gene
- Chromosome:
- 8
- Start:
- 63,015,079 bp from pter
- End:
- 63,039,445 bp from pter
- Size:
- 24,367 bases
- Orientation:
- Minus strand
Genomic View for GGH Gene
- Cytogenetic band:
-
- 8q12.3 by Ensembl
- 8q12.3 by Entrez Gene
- 8q12.3 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for GGH Gene
Proteins for GGH Gene
-
Protein details for GGH Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q92820-GGH_HUMAN
- Recommended name:
- Gamma-glutamyl hydrolase
- Protein Accession:
- Q92820
Protein attributes for GGH Gene
- Size:
- 318 amino acids
- Molecular mass:
- 35964 Da
- Quaternary structure:
-
- Homodimer.
Protein Expression for GGH Gene
Post-translational modifications for GGH Gene
Other Protein References for GGH Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
Abcam proteins for GGH
No data available for DME Specific Peptides for GGH Gene
Domains & Families for GGH Gene
Protein Domains for GGH Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for GGH Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q92820- Family:
-
- Belongs to the peptidase C26 family.
No data available for Gene Families for GGH Gene
Function for GGH Gene
Molecular function for GGH Gene
- GENATLAS Biochemistry:
- gammaglutamyl hydrolase,involved in the metabolism of folic acid
- UniProtKB/Swiss-Prot CatalyticActivity:
- Hydrolysis of a gamma-glutamyl bond.
- UniProtKB/Swiss-Prot Function:
- Hydrolyzes the polyglutamate sidechains of pteroylpolyglutamates. Progressively removes gamma-glutamyl residues from pteroylpoly-gamma-glutamate to yield pteroyl-alpha-glutamate (folic acid) and free glutamate. May play an important role in the bioavailability of dietary pteroylpolyglutamates and in the metabolism of pteroylpolyglutamates and antifolates.
Enzyme Numbers (IUBMB) for GGH Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0008238 | exopeptidase activity | TAS | 8816764 |
| GO:0008242 | omega peptidase activity | TAS | 8816764 |
| GO:0016787 | hydrolase activity | IEA | -- |
| GO:0034722 | gamma-glutamyl-peptidase activity | IEA,IDA | 11005824 |
Phenotypes for GGH Gene
- GenomeRNAi human phenotypes for GGH:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability
- shRNA abundance <= 50%
- Decreased viability in esophageal squamous lineage
- Increased transferrin (TF) endocytosis
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Negative genetic interaction between BLM-/- and BLM+/+
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-
-
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-
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miRNA for GGH Gene
- miRTarBase miRNAs that target GGH
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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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-
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-
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-
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Flow Cytometry Products
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GGH Gene
Localization for GGH Gene
Subcellular locations from UniProtKB/Swiss-Prot for GGH Gene
- Secreted, extracellular space. Lysosome. Melanosome. Note=While its intracellular location is primarily the lysosome, most of the enzyme activity is secreted. Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269 PubMed:12643545}.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005615 | extracellular space | IEA,IDA | 25645918 |
| GO:0005634 | nucleus | IDA | 21630459 |
| GO:0005764 | lysosome | IEA | -- |
| GO:0005829 | cytosol | IEA | -- |
Pathways & Interactions for GGH Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Pyrimidine metabolism | ||
| 2 | Innate Immune System |
.61
|
|
| 3 | Antifolate resistance | ||
| 4 | Folate biosynthesis | ||
| 5 | One carbon pool by folate | ||
Pathways by source for GGH Gene
3 BioSystems pathways for GGH Gene
3 Reactome pathways for GGH Gene
2 PharmGKB pathways for GGH Gene
2 KEGG pathways for GGH Gene
Interacting Proteins for GGH Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006508 | proteolysis | IEA | -- |
| GO:0006541 | glutamine metabolic process | IEA | -- |
| GO:0010043 | response to zinc ion | IEA | -- |
| GO:0032868 | response to insulin | IEA | -- |
| GO:0042493 | response to drug | IEA | -- |
No data available for SIGNOR curated interactions for GGH Gene
Drugs & Compounds for GGH Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Methotrexate | Approved | Pharma | Enzyme, substrate | Folate antagonist,inhibits DFHR | 1551 | |
| Folic Acid | Approved, Vet_approved | Nutra | Enzyme, substrate | 4392 | ||
| Bevacizumab | Approved, Investigational | Pharma | VEGF antagonist, Therapeutic Antibodies, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors | 2020 | ||
| Pemetrexed | Approved, Investigational | Pharma | TS, DHFR,GARFT and AICARFT inhibitor, DHFR and Thymidylate synthase inhibitor, Anti-Folates | 636 | ||
| Tetrahydrofolic acid | Approved | Nutra | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Tetrahydrofolyl-[Glu](2) |
|
|
||||
| Tetrahydrofolyl-[Glu](n) |
|
|
Transcripts for GGH Gene
mRNA/cDNA for GGH Gene
- (2) REFSEQ mRNAs :
- (3) Additional mRNA sequences :
- (190) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for GGH Gene
CRISPR Products
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OriGene CRISPR knockouts for GGH
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miRNA Products
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Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for GGH
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-
ViGene Biosciences ready-to-package AAV shRNAs for GGH gene
Clone Products
- Sino Biological Human cDNA Clone for GGH
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for GGH
- VectorBuilder custom plasmid, inducible vectors for GGH
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for GGH
-
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 GGH Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Gonad (Reproductive System)
- Primordial Germ Cells Primitive Gonad
- Primordial Germ Cells Allantois
-
Placenta (Extraembryonic Tissues)
- Primordial Germ Cells Allantois
-
Kidney (Urinary System)
-
Liver (Hepatobiliary System)
mRNA differential expression in normal tissues according to GTEx for GGH Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GGH Gene
NURSA nuclear receptor signaling pathways regulating expression of GGH Gene:
GGHSOURCE GeneReport for Unigene cluster for GGH Gene:
Hs.78619Evidence on tissue expression from TISSUES for GGH Gene
- Liver(4.6)
- Skin(4.2)
- Nervous system(2.9)
- Kidney(2.5)
- Intestine(2.2)
- Pancreas(2)
Primer Products
-
OriGene qPCR primer pairs and template standards for GGH
-
OriGene qPCR primer pairs for GGH
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GGH Gene
Orthologs for GGH Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | GGH 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | GGH 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | GGH 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Ggh 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ggh 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | GGH 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | GGH 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | GGH 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | GGH 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ggh 34 |
|
||
| Str.11987 34 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | ggh 34 35 |
|
||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5979 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | l(3)72Dp 34 35 |
|
||
| l(3)72Dr 35 |
|
OneToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006670 34 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | GGH3 34 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os05g0517500 34 |
|
- Species where no ortholog for GGH was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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 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)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for GGH Gene
No data available for Paralogs for GGH Gene
Variants for GGH Gene
| SNP ID | Clin | Chr 08 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000018736 | -- | 63,038,515(+) | CCCAG(C/T)CCGGG | intron-variant | |
| rs1000117943 | -- | 63,016,851(+) | TTTAT(G/T)TGCTT | intron-variant | |
| rs1000376916 | -- | 63,026,830(+) | AAGAA(C/T)AGATT | intron-variant | |
| rs1000399320 | -- | 63,017,208(+) | AAAGA(A/G)AAAGA | intron-variant | |
| rs1000673791 | -- | 63,023,263(+) | ATAAA(C/T)ACTCA | intron-variant, downstream-variant-500B |
Relevant External Links for GGH Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GGH Gene
Disorders for GGH Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| methotrexate toxicity or dose selection |
|
|
| tropical sprue |
|
|
Relevant External Links for GGH
No data available for UniProtKB/Swiss-Prot and Genatlas for GGH Gene
Publications for GGH Gene
- Characterization of human gamma-glutamyl hydrolase in solution demonstrates that the enzyme is a non-dissociating homodimer. (PMID: 16945597) Eisele L.E. … Ryan T.J. (Biochim. Biophys. Acta 2006) 3 4 22 25 64
- Structural organization of the human gamma-glutamyl hydrolase gene. (PMID: 10570974) Yin D. … Yao R. (Gene 1999) 2 3 4 22 64
- Human gamma-glutamyl hydrolase: cloning and characterization of the enzyme expressed in vitro. (PMID: 8816764) Yao R. … Galivan J. (Proc. Natl. Acad. Sci. U.S.A. 1996) 2 3 4 22 64
- Phase II trial of pemetrexed plus bevacizumab for second-line therapy of patients with advanced non-small-cell lung cancer: NCCTG and SWOG study N0426. (PMID: 19841321) Adjei A.A. … Zinner R.G. (J. Clin. Oncol. 2010) 3 22 46 64
- Outcomes of methotrexate therapy for psoriasis and relationship to genetic polymorphisms. (PMID: 19016697) Warren R.B. … Griffiths C.E. (Br. J. Dermatol. 2009) 3 22 46 64
Products for GGH Gene
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- Horizon Cell Lines for GGH
- Cyagen custom Knockout/knockin (KOKI) mouse models for GGH
- VectorBuilder custom plasmid, inducible vectors for GGH
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for GGH
- 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 GGH 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




