Aliases for MYOD1 Gene
Aliases for MYOD1 Gene
External Ids for MYOD1 Gene
- HGNC: 7611
- Entrez Gene: 4654
- Ensembl: ENSG00000129152
- OMIM: 159970
- UniProtKB: P15172
Previous HGNC Symbols for MYOD1 Gene
- MYF3
Previous GeneCards Identifiers for MYOD1 Gene
- GC11P018862
- GC11P018683
- GC11P017780
- GC11P017705
- GC11P017697
- GC11P017425
Summaries for MYOD1 Gene
-
This gene encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It regulates muscle cell differentiation by inducing cell cycle arrest, a prerequisite for myogenic initiation. The protein is also involved in muscle regeneration. It activates its own transcription which may stabilize commitment to myogenesis. [provided by RefSeq, Jul 2008]
GeneCards Summary for MYOD1 Gene
MYOD1 (Myogenic Differentiation 1) is a Protein Coding gene. Diseases associated with MYOD1 include Pleomorphic Rhabdomyosarcoma and Spindle Cell Rhabdomyosarcoma. Among its related pathways are Development NOTCH1-mediated pathway for NF-KB activity modulation and miRs in Muscle Cell Differentiation. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is MYF5.
UniProtKB/Swiss-Prot for MYOD1 Gene
-
Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation. Together with MYF5 and MYOG, co-occupies muscle-specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts. Interacts with and is inhibited by the twist protein. This interaction probably involves the basic domains of both proteins (By similarity).
Additional gene information for MYOD1 Gene
- Monarch Initiative
- Search for MYOD1 at DataMed
- Search for MYOD1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYOD1 Gene
Genomics for MYOD1 Gene
GeneHancer (GH) Regulatory Elements for MYOD1 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 |
---|---|---|---|---|---|---|---|---|---|---|
GH11I017718 | Promoter/Enhancer | 1.5 | EPDnew ENCODE dbSUPER | 550.8 | +0.7 | 701 | 4.1 | CTCF KLF1 ARNT BACH1 ZIC2 ZNF2 RAD21 ZNF335 E2F1 ZNF121 | MYOD1 LOC102723330 ENSG00000254586 KCNC1 | |
GH11I017648 | Enhancer | 0.8 | FANTOM5 ENCODE | 14.4 | -68.2 | -68219 | 6.6 | SOX5 SOX13 JUND GATA3 JUN CREB1 CEBPB E2F4 ZIC2 | LOC102723330 ENSG00000254586 SPTY2D1 MYOD1 SNORD14A SAAL1 ENSG00000256361 ENSG00000256588 TSG101 SNORD14B | |
GH11I017985 | Enhancer | 1 | ENCODE dbSUPER | 9.9 | +266.8 | 266790 | 1.8 | ELF3 SOX13 CTCF SAP130 CEBPG ZNF644 ZNF7 TEAD3 NR2F6 FOS | SERGEF MYOD1 SAAL1 HIGD1AP5 GC11P017952 | |
GH11I017978 | Enhancer | 0.7 | ENCODE | 10.7 | +259.3 | 259286 | 0.2 | CTCF ESRRA ARID4B MAX RAD21 RARA YY1 CTBP1 GATA3 ZNF143 | SERGEF MYOD1 KCNC1 GC11P017952 | |
GH11I017812 | Enhancer | 0.5 | ENCODE | 9.8 | +93.2 | 93166 | 0.2 | JUND GATA3 GLIS1 ESR1 FOXA1 | MYOD1 GC11P017794 GC11M017875 KCNC1 SERGEF |
- Top Transcription factor binding sites by QIAGEN in the MYOD1 gene promoter:
Regulatory Element Products
Genomic Locations for MYOD1 Gene
- chr11:17,719,563-17,722,131
- (GRCh38/hg38)
- Size:
- 2,569 bases
- Orientation:
- Plus strand
- chr11:17,741,110-17,743,678
- (GRCh37/hg19)
Genomic View for MYOD1 Gene
- Cytogenetic band:
-
- 11p15.1 by Ensembl
- 11p15.1 by Entrez Gene
- 11p15.1 by HGNC


RefSeq DNA sequence for MYOD1 Gene
Proteins for MYOD1 Gene
-
Protein details for MYOD1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P15172-MYOD1_HUMAN
- Recommended name:
- Myoblast determination protein 1
- Protein Accession:
- P15172
- O75321
Protein attributes for MYOD1 Gene
- Size:
- 320 amino acids
- Molecular mass:
- 34501 Da
- Quaternary structure:
-
- Efficient DNA binding requires dimerization with another bHLH protein. Seems to form active heterodimers with ITF-2. Interacts with SUV39H1. Interacts with DDX5. Interacts with CHD2. Interacts with TSC22D3 (By similarity). Interacts with SETD3 (By similarity). Interacts with P-TEFB complex; promotes the transcriptional activity of MYOD1 through its CDK9-mediated phosphorylation (By similarity) (PubMed:12037670). Interacts with CSRP3.
Protein Expression for MYOD1 Gene
Post-translational modifications for MYOD1 Gene
- Acetylated by a complex containing EP300 and PCAF. The acetylation is essential to activate target genes. Conversely, its deacetylation by SIRT1 inhibits its function (By similarity).
- Methylation at Lys-104 by EHMT2/G9a inhibits myogenic activity.
- Phosphorylated by CDK9. This phosphorylation promotes its function in muscle differentiation.
- Ubiquitinated on the N-terminus; which is required for proteasomal degradation.
Other Protein References for MYOD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
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Assay Products
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Abcam assays for MYOD1
No data available for DME Specific Peptides for MYOD1 Gene
Domains & Families for MYOD1 Gene
Gene Families for MYOD1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for MYOD1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for MYOD1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for MYOD1 Gene
Function for MYOD1 Gene
Molecular function for MYOD1 Gene
- GENATLAS Biochemistry:
- myogenic differentiation 1,transcription activator of muscle specific genes,promoting cell cycle exit by inducing CDKNIA
- UniProtKB/Swiss-Prot Function:
- Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation. Together with MYF5 and MYOG, co-occupies muscle-specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts. Interacts with and is inhibited by the twist protein. This interaction probably involves the basic domains of both proteins (By similarity).
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IDA | 11076940 |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA,IBA | -- |
GO:0001047 | core promoter binding | IEA,ISS | -- |
GO:0001228 | transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding | IDA,IEA | 11076940 |
GO:0003677 | DNA binding | IEA | -- |
Phenotypes for MYOD1 Gene
- MGI mutant phenotypes for MYOD1:
- inferred from 9 alleles
- GenomeRNAi human phenotypes for MYOD1:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability in esophageal squamous lineage
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Increased HPV16-GFP infection
- Decreased influenza A/WSN/33 replication
- Negative genetic interaction between BLM-/- and BLM+/+
- Decreased influenza A H1N1 (A/WSN/33) virus numbers
Animal Models for MYOD1 Gene
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miRNA for MYOD1 Gene
- miRTarBase miRNAs that target MYOD1
Transcription Factor Targets for MYOD1 Gene
Targeted motifs for MYOD1 Gene
- Consensus sequence: AGCAGCTGCTGC Submotif: canonical Cell Type: Myotube GEO ID: GSE21614
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Clone Products
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No data available for Enzyme Numbers (IUBMB) and Phenotypes From GWAS Catalog for MYOD1 Gene
Localization for MYOD1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for MYOD1 Gene
- Nucleus.
- Nuclear bodies (3)
- Nucleoplasm (3)
- Cytosol (1)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | IEA,ISS | -- |
GO:0005634 | nucleus | TAS | 3175662 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005667 | transcription factor complex | ISS,IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
Pathways & Interactions for MYOD1 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Myogenesis |
1.00
|
1.00
|
2 | TGF-beta Signaling Pathways | ||
3 | Developmental Biology | ||
4 | Development NOTCH1-mediated pathway for NF-KB activity modulation | ||
5 | Immune response Function of MEF2 in T lymphocytes |
Pathways by source for MYOD1 Gene
8 BioSystems pathways for MYOD1 Gene
3 Reactome pathways for MYOD1 Gene
2 GeneGo (Thomson Reuters) pathways for MYOD1 Gene
1 R&D Systems pathway for MYOD1 Gene
Interacting Proteins for MYOD1 Gene
SIGNOR curated interactions for MYOD1 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | IEA | -- |
GO:0006351 | transcription, DNA-templated | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | TAS,IEA | 1846704 |
GO:0006366 | transcription by RNA polymerase II | IEA | -- |
Transcripts for MYOD1 Gene
mRNA/cDNA for MYOD1 Gene
- (1) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (86) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for MYOD1 Gene
CRISPR Products
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Expression for MYOD1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Skeletal Muscle (Muscoskeletal System)
- Somite (Muscoskeletal System)
-
Limb (Muscoskeletal System)
- Myoblasts Hindlimb Ventral Muscle
- Mononuclear Myocytes Hindlimb Ventral Muscle
- Mononuclear Myocytes Forelimb Dorsal Muscles
- Myoblasts Forelimb Ventral Muscles
- Mononuclear Myocytes Hindlimb Dorsal Muscle
- NULL (Uncategorized)
-
Eye (Sensory Organs)
- Glycinergic Amacrine Cells Inner Nuclear Layer
-
Neurons
- Glycinergic Amacrine Cells Inner Nuclear Layer
-
Inner Cell Mass (Early Embryonic Tissues)
- Inner Cell Mass Cells Inner Cell Mass
- Gut Tube (Gastrointestinal Tract)
- Adipose (Muscoskeletal System)
- Mesenchymal Stem Cells
mRNA differential expression in normal tissues according to GTEx for MYOD1 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MYOD1 Gene
NURSA nuclear receptor signaling pathways regulating expression of MYOD1 Gene:
MYOD1SOURCE GeneReport for Unigene cluster for MYOD1 Gene:
Hs.181768Evidence on tissue expression from TISSUES for MYOD1 Gene
- Muscle(4.9)
- Eye(4.1)
- Nervous system(3.8)
- Liver(3.7)
- Intestine(2.1)
- Pancreas(2)
Primer Products
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OriGene qPCR primer pairs for MYOD1
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OriGene qPCR primer pairs and template standards for MYOD1
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No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MYOD1 Gene
Orthologs for MYOD1 Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | MYOD1 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | MYOD1 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | MYOD1 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Myod1 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Myod1 33 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | MYOD1 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | MYOD1 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | MYOD1 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | myod1 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | myod1 33 34 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | nau 34 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | hlh-1 34 |
|
OneToMany | |
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for MYOD1 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)
- 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)
- platypus (Ornithorhynchus anatinus)
- 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)
Paralogs for MYOD1 Gene
Variants for MYOD1 Gene
SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs930939009 | A breast cancer sample | 17,721,329(+) | G/A | coding_sequence_variant, missense_variant | |
VAR_036393 | A breast cancer sample | p.Ala309Val | |||
rs1000948922 | -- | 17,721,858(+) | G/C | 3_prime_UTR_variant | |
rs1001100220 | -- | 17,721,836(+) | C/T | 3_prime_UTR_variant | |
rs1001125149 | -- | 17,722,063(+) | C/T | 3_prime_UTR_variant |
Additional Variant Information for MYOD1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYOD1 Gene
Disorders for MYOD1 Gene
Disorder | Aliases | PubMed IDs |
---|---|---|
pleomorphic rhabdomyosarcoma |
|
|
spindle cell rhabdomyosarcoma |
|
|
skeletal muscle cancer |
|
|
botryoid rhabdomyosarcoma |
|
|
gallbladder sarcoma |
|
|
Additional Disease Information for MYOD1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Tumor Gene Database
- (TGDB)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for MYOD1 Gene
Publications for MYOD1 Gene
- Genomewide linkage and peakwide association analyses of carotid plaque in Caribbean Hispanics. (PMID: 20966410) Dong C … Sacco RL (Stroke 2010) 3 44 58
- High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges LM … MrOS Research Group (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 44 58
- MyoD and E-protein heterodimers switch rhabdomyosarcoma cells from an arrested myoblast phase to a differentiated state. (PMID: 19299559) Yang Z … Tapscott SJ (Genes & development 2009) 3 22 58
- Estrogen receptor (ER) beta or p53 attenuates ERalpha-mediated transcriptional activation on the BRCA2 promoter. (PMID: 18765668) Jin W … Shao ZM (The Journal of biological chemistry 2008) 3 22 58
- Histone methyltransferase Suv39h1 represses MyoD-stimulated myogenic differentiation. (PMID: 16858404) Mal AK (The EMBO journal 2006) 3 4 58
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- GeneTex MYOD1 antibody for MYOD1
- Search GeneTex for Proteins for MYOD1
- ViGene Biosciences adenoviral particle packaged cDNA for MYOD1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for MYOD1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for MYOD1 gene
- Search ViGene Biosciences for MYOD1
- Santa Cruz Biotechnology (SCBT) Antibodies for MYOD1
- Search Santa Cruz Biotechnology (SCBT) for MYOD1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for MYOD1
- Horizon Cell Lines for MYOD1
- genomics-online: cdna clones - Search results for available MYOD1 gene related products
- orf clones - Search results for available MYOD1 gene related products
- genomics-online: gRNA clones - Search results for available MYOD1 gene related products
- genomics-online: primer clones - Search results for available MYOD1 gene related products
- genomics-online: shRNA clones - Search results for available MYOD1 gene related products
Sources for MYOD1 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