Aliases for EFHC2 Gene
Aliases for EFHC2 Gene
External Ids for EFHC2 Gene
- HGNC: 26233
- Entrez Gene: 80258
- Ensembl: ENSG00000183690
- OMIM: 300817
- UniProtKB: Q5JST6
Previous HGNC Symbols for EFHC2 Gene
- MRX74
Previous GeneCards Identifiers for EFHC2 Gene
- GC0XM043764
- GC0XM043892
- GC0XM044007
- GC0XM041736
Summaries for EFHC2 Gene
-
This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011]
GeneCards Summary for EFHC2 Gene
EFHC2 (EF-Hand Domain Containing 2) is a Protein Coding gene. Diseases associated with EFHC2 include Leukocoria and Turner Syndrome. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is EFHC1.
Additional gene information for EFHC2 Gene
- Monarch Initiative
- Search for EFHC2 at DataMed
- Search for EFHC2 at HumanCyc
No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFHC2 Gene
Genomics for EFHC2 Gene
GeneHancer (GH) Regulatory Elements for EFHC2 Gene
Promoters and enhancers for EFHC2 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH0XJ044342 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE | 704.9 | -0.4 | -446 | 2.4 | HDAC1 PKNOX1 TCF12 ZNF766 EGR1 CREM ZNF148 MEF2D KLF16 SMARCA4 | EFHC2 GC0XP044402 | |
| GH0XJ044313 | Enhancer | 1.4 | FANTOM5 Ensembl ENCODE | 10.7 | +28.9 | 28946 | 3.1 | PKNOX1 ATF1 ARNT NCOA2 TCF12 ZNF766 GATA2 ATF7 NCOA1 REST | EFHC2 MAOB RRM2P3 | |
| GH0XJ044331 | Enhancer | 0.3 | ENCODE | 42.8 | +11.1 | 11141 | 1.6 | NANOG | EFHC2 RRM2P3 | |
| GH0XJ044349 | Enhancer | 0.2 | ENCODE | 51.4 | -6.3 | -6303 | 1.1 | EFHC2 GC0XP044402 | ||
| GH0XJ044252 | Enhancer | 1 | Ensembl ENCODE | 4.1 | +90.2 | 90159 | 1.6 | HDAC1 ATF1 FOXA2 NFRKB ZNF335 EGR1 SP5 ELF1 ZNF592 ZNF148 | EFHC2 TATDN2P1 GC0XP044058 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around EFHC2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the EFHC2 gene promoter:
-
- RFX1
- POU2F1a
- POU2F1
- NF-AT4
- NF-AT3
- NF-AT2
- NF-AT1
- NF-AT
- MIF-1
- CUTL1
Regulatory Element Products
Genomic Locations for EFHC2 Gene
Genomic Locations for EFHC2 Gene
- chrX:44,146,254-44,343,677
- (GRCh38/hg38)
- Size:
- 197,424 bases
- Orientation:
- Minus strand
- chrX:44,007,128-44,202,923
- (GRCh37/hg19)
- Size:
- 195,796 bases
- Orientation:
- Minus strand
Genomic View for EFHC2 Gene
Genes around EFHC2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp11.3 by Entrez Gene
- Xp11.3 by HGNC
- Xp11.3 by Ensembl
EFHC2 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 EFHC2 Gene
Proteins for EFHC2 Gene
-
Protein details for EFHC2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q5JST6-EFHC2_HUMAN
- Recommended name:
- EF-hand domain-containing family member C2
- Protein Accession:
- Q5JST6
- Q5JST8
- Q68DK4
- Q8NEI0
- Q9H653
Protein attributes for EFHC2 Gene
- Size:
- 749 amino acids
- Molecular mass:
- 87397 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=CAI40213.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI42234.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for EFHC2 Gene
Post-translational modifications for EFHC2 Gene
Other Protein References for EFHC2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
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Protein Products
-
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-
Quality Products:
- Search GeneTex for Proteins for EFHC2
Assay Products
No data available for DME Specific Peptides for EFHC2 Gene
Domains & Families for EFHC2 Gene
Gene Families for EFHC2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for EFHC2 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for EFHC2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for EFHC2 Gene
Function for EFHC2 Gene
Phenotypes From GWAS Catalog for EFHC2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 25416956 |
Phenotypes for EFHC2 Gene
- GenomeRNAi human phenotypes for EFHC2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
CRISPR Products
-
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- Overview of 104 available EFHC2 gene related products
- Applied Biological Materials CRISPR for EFHC2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EFHC2
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miRNA for EFHC2 Gene
- miRTarBase miRNAs that target EFHC2
miRNA Products
Inhibitory RNA Products
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- Overview of 104 available EFHC2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for EFHC2
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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
- Addgene plasmids for EFHC2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EFHC2
- Applied Biological Materials Clones for EFHC2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for EFHC2
No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EFHC2 Gene
Localization for EFHC2 Gene
| Compartment | Confidence |
|---|---|
| mitochondrion | 2 |
| cytosol | 2 |
| nucleus | 1 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for EFHC2 Gene
Pathways & Interactions for EFHC2 Gene
No Data Available
Interacting Proteins for EFHC2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:1990830 | cellular response to leukemia inhibitory factor | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for EFHC2 Gene
Transcripts for EFHC2 Gene
mRNA/cDNA for EFHC2 Gene
- (3) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (12) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000343571 1484 bps (uc064yrq.1)
- ENST00000420999 2464 bps (uc004dgb.5)
Unigene Clusters for EFHC2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for EFHC2
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- genomics-online: gRNA clones - Search results for 104 available EFHC2 gene related products
- Overview of 104 available EFHC2 gene related products
- Applied Biological Materials CRISPR for EFHC2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EFHC2
- GenScript: Design CRISPR guide RNA sequences for EFHC2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EFHC2
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFHC2
- genomics-online: shRNA clones - Search results for 104 available EFHC2 gene related products
- Overview of 104 available EFHC2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for EFHC2
- VectorBuilder custom plasmid, inducible vectors for EFHC2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EFHC2
-
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
- Addgene plasmids for EFHC2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EFHC2
- Applied Biological Materials Clones for EFHC2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for EFHC2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Adult Endothelial Cells Blood Brain Barrier
-
Endothelium (Cardiovascular System)
- Adult Endothelial Cells Blood Brain Barrier
-
Testis (Reproductive System)
This gene is overexpressed in Adipocyte (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EFHC2 Gene
NURSA nuclear receptor signaling pathways regulating expression of EFHC2 Gene:
EFHC2SOURCE GeneReport for Unigene cluster for EFHC2 Gene:
Hs.521953Evidence on tissue expression from TISSUES for EFHC2 Gene
- Intestine(4)
Primer Products
-
OriGene qPCR primer pairs and template standards for EFHC2
-
OriGene qPCR primer pairs for EFHC2
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EFHC2 Gene
Orthologs for EFHC2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | EFHC2 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | EFHC2 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | EFHC2 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Efhc2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Efhc2 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | EFHC2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | EFHC2 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | EFHC2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | efhc2 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | efhc2 34 33 |
|
OneToOne | |
| Dr.13820 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Efhc1.2 34 33 |
|
OneToMany | |
| Efhc1.1 34 |
|
OneToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003339 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.3980 34 |
|
OneToOne | |
| Cin.1550 33 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.1550 33 |
|
- Species where no ortholog for EFHC2 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)
- 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)
Evolution for EFHC2 Gene
- ENSEMBL:
- Gene Tree for EFHC2 (if available)
- TreeFam:
- Gene Tree for EFHC2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for EFHC2: view image
Paralogs for EFHC2 Gene
Variants for EFHC2 Gene
| SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs201560745 | uncertain-significance, not specified | 44,261,277(-) | C/T | 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs3747354 | benign, not specified | 44,232,582(-) | C/G | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1000014128 | -- | 44,247,624(-) | A/G | intron_variant | |
| rs1000039547 | -- | 44,320,769(-) | G/A | genic_upstream_transcript_variant, intron_variant | |
| rs1000084286 | -- | 44,164,352(-) | G/T | intron_variant |
Residual Variation Intolerance Score:
91.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.14;
61.41% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for EFHC2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFHC2 Gene
Disorders for EFHC2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| leukocoria |
|
|
| turner syndrome |
|
|
| eye degenerative disease |
|
|
| norrie disease |
|
|
Search EFHC2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for EFHC2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for EFHC2 Gene
Publications for EFHC2 Gene
- Preliminary evidence of association between EFHC2, a gene implicated in fear recognition, and harm avoidance. (PMID: 19429002) Blaya C … Smoller JW (Neuroscience letters 2009) 3 44 58
- EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome. (PMID: 17948898) Zinn AR … Ross JL (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 44 58
- Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. (PMID: 17221867) de Brouwer AP … Hamel BC (Human mutation 2007) 2 3 58
- The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 58
- A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy. (PMID: 16112844) Gu W … Steinlein OK (Epilepsy research 2005) 3 4 58
Products for EFHC2 Gene
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- VectorBuilder custom plasmid, inducible vectors for EFHC2
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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
- Addgene plasmids for EFHC2
- antibodies-online: Search results for available EFHC2 related products ranked by validation data
- antibodies-online: Search results for available EFHC2 related products ranked by validation data
- antibodies-online: Search results for 3 available EFHC2 Proteins ranked by validation data
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- Quality Products:
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- Overview of 104 available EFHC2 gene related products
- genomics-online: gRNA clones - Search results for 104 available EFHC2 gene related products
- Overview of 104 available EFHC2 gene related products
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- Overview of 104 available EFHC2 gene related products
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- Overview of 104 available EFHC2 gene related products
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- Biorbyt antibodies for EFHC2
Sources for EFHC2 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
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- (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
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