Aliases for ISCA1 Gene
Aliases for ISCA1 Gene
External Ids for ISCA1 Gene
- HGNC: 28660
- Entrez Gene: 81689
- Ensembl: ENSG00000135070
- OMIM: 611006
- UniProtKB: Q9BUE6
Previous HGNC Symbols for ISCA1 Gene
- HBLD2
Previous GeneCards Identifiers for ISCA1 Gene
- GC09M088070
- GC09M088879
- GC09M058702
Summaries for ISCA1 Gene
-
ISCA1 is a mitochondrial protein involved in the biogenesis and assembly of iron-sulfur clusters, which play a role in electron-transfer reactions (Cozar-Castellano et al., 2004 [PubMed 15262227]).[supplied by OMIM, Mar 2008]
GeneCards Summary for ISCA1 Gene
ISCA1 (Iron-Sulfur Cluster Assembly 1) is a Protein Coding gene. GO annotations related to this gene include structural molecule activity and iron-sulfur cluster binding.
UniProtKB/Swiss-Prot for ISCA1 Gene
-
Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. Probably involved in the binding of an intermediate of Fe/S cluster assembly.
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ISCA1 Gene
Genomics for ISCA1 Gene
Regulatory Elements for ISCA1 Gene
Enhancers for ISCA1 Gene
| GeneHancer Identifier | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
Enhancers around ISCA1 on UCSC Golden Path with GeneCards custom track
Promoters for ISCA1 Gene
| Ensembl Regulatory Elements (ENSRs) | TSS Distance (bp) | Size (bp) | Binding Sites for Transcription Factors within promoters |
|---|
ENSRs around ISCA1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for ISCA1 Gene
- Chromosome:
- 9
- Start:
- 86,264,546 bp from pter
- End:
- 86,282,575 bp from pter
- Size:
- 18,030 bases
- Orientation:
- Minus strand
Genomic View for ISCA1 Gene
Genes around ISCA1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9q21.33 by Ensembl
- 9q21.33 by Entrez Gene
- 9q22.1 by HGNC
ISCA1 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 ISCA1 Gene
Proteins for ISCA1 Gene
-
Protein details for ISCA1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BUE6-ISCA1_HUMAN
- Recommended name:
- Iron-sulfur cluster assembly 1 homolog, mitochondrial
- Protein Accession:
- Q9BUE6
- B3KP34
- B4DJI5
- Q8ND75
- Q9BZR2
Protein attributes for ISCA1 Gene
- Size:
- 129 amino acids
- Molecular mass:
- 14179 Da
- Quaternary structure:
-
- Interacts with CRY2, but not with CRY1 (in vitro).
- SequenceCaution:
-
- Sequence=AAG59854.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAD39021.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for ISCA1 Gene
Post-translational modifications for ISCA1 Gene
Other Protein References for ISCA1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for ISCA1
- antibodies-online Antibodies for ISCA1: See all 19
- Search GeneTex for Antibodies for ISCA1
-
Santa Cruz Biotechnology (SCBT) Antibodies for ISCA1
Protein Products
-
OriGene Purified Proteins for ISCA1
- Search Origene for MassSpec and Protein Over-expression Lysates for ISCA1
- Origene Custom Protein Services for ISCA1
- antibodies-online Proteins for ISCA1: See all 9
- Search antibodies-online for peptides
- Search GeneTex for Proteins for ISCA1
- Abcam proteins for HBLD2
Assay Products
No data available for DME Specific Peptides for ISCA1 Gene
Domains & Families for ISCA1 Gene
Protein Domains for ISCA1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ISCA1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9BUE6- Family:
-
- Belongs to the HesB/IscA family.
No data available for Gene Families for ISCA1 Gene
Function for ISCA1 Gene
Molecular function for ISCA1 Gene
- UniProtKB/Swiss-Prot Function:
- Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. Probably involved in the binding of an intermediate of Fe/S cluster assembly.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005198 | structural molecule activity | IEA | -- |
| GO:0008198 | ferrous iron binding | IBA | -- |
Phenotypes for ISCA1 Gene
- GenomeRNAi human phenotypes for ISCA1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for ISCA1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ISCA1 gene
- Search ViGene Biosciences for ISCA1
CRISPR Products
-
OriGene CRISPR knockouts for ISCA1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ISCA1
- GenScript: Design CRISPR guide RNA sequences for ISCA1
miRNA for ISCA1 Gene
- miRTarBase miRNAs that target ISCA1
-
- hsa-mir-181c-5p (MIRT047223)
- hsa-mir-4451 (MIRT487940)
- hsa-mir-3132 (MIRT487941)
- hsa-mir-197-5p (MIRT487942)
- hsa-mir-6835-5p (MIRT487943)
- hsa-mir-3175 (MIRT487944)
- hsa-mir-8085 (MIRT487945)
- hsa-mir-6731-5p (MIRT487946)
- hsa-mir-2114-5p (MIRT487947)
- hsa-mir-5007-5p (MIRT487948)
- hsa-mir-624-3p (MIRT487949)
- hsa-mir-3152-5p (MIRT563443)
- hsa-mir-4774-3p (MIRT563444)
- hsa-mir-6894-3p (MIRT563445)
- hsa-mir-6514-3p (MIRT563446)
- hsa-mir-661 (MIRT563447)
- hsa-mir-3116 (MIRT563448)
- hsa-mir-6499-3p (MIRT563449)
- hsa-mir-1254 (MIRT563450)
- hsa-mir-583 (MIRT563451)
- hsa-mir-1276 (MIRT563452)
- hsa-mir-4311 (MIRT563453)
miRNA Products
- Search ViGene Biosciences for ISCA1
Clone Products
- OriGene clones in human for ISCA1
- OriGene ORF clones in human,mouse,rat for ISCA1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ISCA1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for ISCA1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for ISCA1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ISCA1 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ISCA1 Gene
Localization for ISCA1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ISCA1 Gene
- Mitochondrion.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| cytosol | 2 |
No data available for Gene Ontology (GO) - Cellular Components for ISCA1 Gene
Pathways & Interactions for ISCA1 Gene
More details on SuperPathways for ISCA1
No Data Available
Interacting Proteins for ISCA1 Gene
Selected Interacting proteins:
Q9BUE6-ISCA1_HUMAN
ENSP00000365159
for ISCA1 Gene via
MINT
STRING
I2D
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006790 | sulfur compound metabolic process | IBA | -- |
| GO:0097428 | protein maturation by iron-sulfur cluster transfer | IBA | -- |
No data available for Pathways by source and SIGNOR curated interactions for ISCA1 Gene
Transcripts for ISCA1 Gene
mRNA/cDNA for ISCA1 Gene
- (1) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (307) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ISCA1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ISCA1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ISCA1
- GenScript: Design CRISPR guide RNA sequences for ISCA1
miRNA Products
- Search ViGene Biosciences for ISCA1
Clone Products
- OriGene clones in human for ISCA1
- OriGene ORF clones in human,mouse,rat for ISCA1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ISCA1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b |
|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||
| SP2: |
Expression for ISCA1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
This gene is overexpressed in Ovary (11.0) and Adrenal (7.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ISCA1 Gene
SOURCE GeneReport for Unigene cluster for ISCA1 Gene Hs.449291
mRNA Expression by UniProt/SwissProt for ISCA1 Gene
Q9BUE6-ISCA1_HUMAN
Tissue specificity:
Detected in cerebellum, kidney and heart.
- Elite partner
Primer Products
-
OriGene qPCR primer pairs for ISCA1
-
OriGene qPCR primer pairs and template standards for ISCA1
No data available for mRNA differential expression in normal tissues for ISCA1 Gene
Orthologs for ISCA1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | ISCA1 35 |
|
||
| -- 36 |
|
OneToMany | |||
| ISCA1 36 |
|
OneToMany | |||
| dog (Canis familiaris) |
Mammalia | ISCA1 35 |
|
||
| ISCA1 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Isca1 35 |
|
||
| Isca1 16 |
|
||||
| AK157302 36 |
|
OneToMany | |||
| Isca1 36 |
|
OneToMany | |||
| chimpanzee (Pan troglodytes) |
Mammalia | ISCA1 35 |
|
||
| ISCA1 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Isca1 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ISCA1 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | ISCA1 36 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ISCA1 35 |
|
||
| ISCA1 36 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | ISCA1 36 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | isca1 35 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.9646 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | isca1 35 |
|
||
| isca1 36 |
|
OneToOne | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002730 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | l(1)G0136 35 |
|
||
| l(1)G0136 36 |
|
OneToOne | |||
| worm (Caenorhabditis elegans) |
Secernentea | CELE_Y39B6A.3 35 |
|
||
| Y39B6A.3 36 |
|
OneToOne | |||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F18150g 35 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ISA1 36 |
|
OneToOne | |
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT2G16710 35 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os01g0105800 35 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.5203 36 |
|
OneToOne |
- Species with no ortholog for ISCA1:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- 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)
- 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 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)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for ISCA1 Gene
(1) SIMAP similar genes for ISCA1 Gene using alignment to 4 proteins:
Pseudogenes.org Pseudogenes for ISCA1 Gene
No data available for Paralogs for ISCA1 Gene
Variants for ISCA1 Gene
| SNP ID | Clin | Chr 09 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs768111 | -- | 86,281,412(-) | ACTGG(A/G)AAAAA | intron-variant | |
| rs1059144 | -- | 86,264,610(-) | TGCAA(C/T)ACTGT | utr-variant-3-prime | |
| rs7847399 | -- | 86,279,054(+) | GCCTT(C/T)GTATA | intron-variant | |
| rs1535757 | -- | 86,275,118(+) | gataa(C/T)agttc | intron-variant | |
| rs1535758 | -- | 86,275,200(+) | aAAAA(A/T)ACCAA | intron-variant |
Residual Variation Intolerance Score:
54.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.21;
39.94% of all genes are more intolerant (likely to be disease-causing)
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for ISCA1 Gene
Disorders for ISCA1 Gene
Relevant External Links for ISCA1
No disorders were found for ISCA1 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ISCA1 Gene
Publications for ISCA1 Gene
- hIscA: a protein implicated in the biogenesis of iron-sulfur clusters. (PMID: 15262227) Cozar-Castellano I. … Avila J. (Biochim. Biophys. Acta 2004) 2 3 4 23 67
- The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation. (PMID: 22323289) Sheftel A.D. … Lill R. (Mol. Biol. Cell 2012) 2 3
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
- A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
- A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3
Products for ISCA1 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
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- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
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- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Browse OriGene Antibodies
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for ISCA1
- Search Origene for MassSpec and Protein Over-expression Lysates for ISCA1
- Origene Custom Protein Services for ISCA1
- Origene siRNA, shRNA, mouse_rna, rat_shrna, and RNAi products in human, mouse, rat for ISCA1
- Browse OriGene Inhibitory RNA Products For ISCA1
- OriGene qPCR primer pairs for ISCA1
- OriGene qPCR primer pairs and template standards for ISCA1
- OriGene CRISPR knockouts for ISCA1
- OriGene clones in human for ISCA1
- OriGene ORF clones in human,mouse,rat for ISCA1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- GenScript: Next-day shipping cDNA clones in your preferred vector
- GenScript Custom Purified and Recombinant Proteins Services for ISCA1
- GenScript Custom Assay Services for ISCA1
- GenScript Custom overexpressing Cell Line Services for ISCA1
- GenScript: Design CRISPR guide RNA sequences for ISCA1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for ISCA1
- Novus Biologicals Antibodies for ISCA1
- Novus Biologicals proteins and lysates for ISCA1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- antibodies-online Antibodies for ISCA1: See all 19
- Search antibodies-online for kits
- antibodies-online Proteins for ISCA1: See all 9
- Search antibodies-online for peptides
- Search GeneTex for Antibodies for ISCA1
- Search GeneTex for Proteins for ISCA1
- ViGene Biosciences adenoviral particle packaged cDNA for ISCA1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for ISCA1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for ISCA1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for ISCA1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for ISCA1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for ISCA1 gene
- Search ViGene Biosciences for ISCA1
- Search ViGene Biosciences for ISCA1
- Santa Cruz Biotechnology (SCBT) Antibodies for ISCA1
- Search Santa Cruz Biotechnology (SCBT) for ISCA1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ISCA1
Sources for ISCA1 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) I2D
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
- (31) ECgene
- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
- (51) HuGE
- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
- (56) H-invDB
- (57) HORDE
- (58) HUGE
- (59) IMGT
- (60) Leiden
- (61) MILLIPORE
- (62) miRBase
- (63) DME
- (64) Nature
- (65) NCBI
- (66) OriGene
- (67) PubMed
- (68) R&D Systems
- (69) Salk
- (70) TGDB
- (71) Tufts
- (72) YEDA
- (73) CROW21
- (74) Tocris
- (75) Abcam
- (76) Novus
- (77) ProSpec
- (78) Sino Biological
- (79) GenScript
- (80) Qiagen
- (81) Cloud-Clone Corp.
- (82) Enzo Life Sciences
- (83) OCA
- (84) Proteopedia
- (85) MOPED
- (86) SPIRE
- (87) neXtProt
- (88) Reactome
- (89) GeneGo (Thomson Reuters)
- (90) fRNAdb
- (91) DISEASES
- (92) SIMAP
- (93) GenomeRNAi
- (94) LifeMap
- (95) miRTarBase
- (96) MalaCards
- (97) Invitrogen
- (98) BitterDB
- (99) Vector BioLabs
- (100) ESI-BIO
- (101) RefSeq
- (102) BioSystems
- (103) MaxQB
- (104) IUPHAR
- (105) BioGPS
- (106) Illumina
- (107) COMPARTMENTS
- (108) HOMER
- (109) PaxDb
- (110) ApexBio
- (111) Addgene
- (112) Advanced Cell Diagnostics
- (113) antibodies-online
- (114) CYP
- (115) NONCODE
- (116) SwitchGear Genomics
- (117) TreeFam
- (118) PathCards
- (119) GeneReviews
- (120) GeneTex
- (121) Taconic Biosciences
- (122) GTEx
- (123) ProteomicsDB
- (124) SCBT
- (125) DGIdb
- (126) ClinicalTrials
- (127) FDA Approved Drugs
- (128) RVIS
- (129) SIGNOR
- (130) diseasecard
- (131) NIH Rare Diseases
- (132) Orphanet
- (133) UMLS
- (134) GTR
- (135) Disease Ontology
- (136) Genetics Home Reference
- (137) MeSH
- (138) MedlinePlus
- (139) CDC
- (140) NINDS
- (141) NCBI Bookshelf
- (142) ClinVar
- (143) Gene Damage Index
- (144) ViGene Biosciences
- (145) HPO
- (146) UDN
- (147) VISTA
- (148) FANTOM5
- (149) ENCODE
- (150) ProSci
- (151) Horizon