Aliases for MYCBP2 Gene
Aliases for MYCBP2 Gene
External Ids for MYCBP2 Gene
- HGNC: 23386
- Entrez Gene: 23077
- Ensembl: ENSG00000005810
- OMIM: 610392
- UniProtKB: O75592
Previous GeneCards Identifiers for MYCBP2 Gene
- GC13M075417
- GC13M076517
- GC13M077618
- GC13M058316
Summaries for MYCBP2 Gene
GeneCards Summary for MYCBP2 Gene
MYCBP2 (MYC Binding Protein 2, E3 Ubiquitin Protein Ligase) is a Protein Coding gene. Among its related pathways are Integrated Breast Cancer Pathway. GO annotations related to this gene include protein homodimerization activity and ligase activity.
UniProtKB/Swiss-Prot for MYCBP2 Gene
-
E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of TSC2/tuberin. Interacts with the E2 enzymes UBE2D1, UBE2D3 and UBE2L3 (in vitro). May function as a facilitator or regulator of transcriptional activation by MYC. May have a role during synaptogenesis.
No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYCBP2 Gene
Genomics for MYCBP2 Gene
Regulatory Elements for MYCBP2 Gene
Enhancers for MYCBP2 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 MYCBP2 on UCSC Golden Path with GeneCards custom track
Promoters for MYCBP2 Gene
| Ensembl Regulatory Elements (ENSRs) | TSS Distance (bp) | Size (bp) | Binding Sites for Transcription Factors within promoters |
|---|
ENSRs around MYCBP2 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the MYCBP2 gene promoter:
Regulatory Element Products
Genomic Location for MYCBP2 Gene
- Chromosome:
- 13
- Start:
- 77,044,655 bp from pter
- End:
- 77,327,050 bp from pter
- Size:
- 282,396 bases
- Orientation:
- Minus strand
Genomic View for MYCBP2 Gene
Genes around MYCBP2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 13q22.3 by Ensembl
- 13q22 by Entrez Gene
- 13q22 by HGNC
MYCBP2 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 MYCBP2 Gene
Proteins for MYCBP2 Gene
-
Protein details for MYCBP2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O75592-MYCB2_HUMAN
- Recommended name:
- E3 ubiquitin-protein ligase MYCBP2
- Protein Accession:
- O75592
- A6NJC6
- Q5JSX8
- Q5VZN6
- Q6PIB6
- Q9UQ11
- Q9Y6E4
Protein attributes for MYCBP2 Gene
- Size:
- 4640 amino acids
- Molecular mass:
- 510084 Da
- Quaternary structure:
-
- Interacts with MYC (PubMed:9689053). Interacts with TSC2 (tuberin) when TSC2 is in complex with TSC1 (hamartin) (PubMed:14559897). Interacts with FBXO45 (PubMed:19398581). Interacts with RAE1 (PubMed:22357847). Interacts with CPNE1 (via VWFA domain) and CPNE4 (via VWFA domain) (By similarity).
- SequenceCaution:
-
- Sequence=AAD39842.1; Type=Frameshift; Positions=4636; Evidence={ECO:0000305}; Sequence=AAH37971.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI39758.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Protein Expression for MYCBP2 Gene
Post-translational modifications for MYCBP2 Gene
- Autoubiquitinated.
- Ubiquitination at Lys 1008, Lys 2094, and Lys 3750
- Modification sites at PhosphoSitePlus
Other Protein References for MYCBP2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for MYCBP2
- Abcam antibodies for MYCBP2
- antibodies-online Antibodies for MYCBP2: See all 13
- Search GeneTex for Antibodies for MYCBP2
-
Santa Cruz Biotechnology (SCBT) Antibodies for MYCBP2
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for MYCBP2
- Origene Custom Protein Services for MYCBP2
- Search GeneTex for Proteins for MYCBP2
Assay Products
No data available for DME Specific Peptides for MYCBP2 Gene
Domains & Families for MYCBP2 Gene
Protein Domains for MYCBP2 Gene
Suggested Antigen Peptide Sequences for MYCBP2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O75592UniProtKB/Swiss-Prot:
MYCB2_HUMAN :- The PHR domains are compact beta-sandwich folds composed of 11 antiparallel strands and decorated with conserved apical loops. They are likely to play a structural role and mediate interactions with substrates or partners (By similarity).
- Belongs to the highwire family.
- Contains 1 B box-type zinc finger.
- Domain:
-
- The PHR domains are compact beta-sandwich folds composed of 11 antiparallel strands and decorated with conserved apical loops. They are likely to play a structural role and mediate interactions with substrates or partners (By similarity).
- Contains 1 DOC domain.
- Family:
-
- Belongs to the highwire family.
- Similarity:
-
- Contains 1 B box-type zinc finger.
- Contains 1 filamin repeat.
- Contains 5 RCC1 repeats.
- Contains 1 RING-type zinc finger.
No data available for Gene Families for MYCBP2 Gene
Function for MYCBP2 Gene
Molecular function for MYCBP2 Gene
- UniProtKB/Swiss-Prot Function:
- E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of TSC2/tuberin. Interacts with the E2 enzymes UBE2D1, UBE2D3 and UBE2L3 (in vitro). May function as a facilitator or regulator of transcriptional activation by MYC. May have a role during synaptogenesis.
Enzyme Numbers (IUBMB) for MYCBP2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016874 | ligase activity | IEA | -- |
Phenotypes for MYCBP2 Gene
- MGI mutant phenotypes for MYCBP2:
- inferred from 7 alleles
- GenomeRNAi human phenotypes for MYCBP2:
Animal Models for MYCBP2 Gene
- MGI Knock Outs for MYCBP2:
-
- Mycbp2 tm1.1Adia
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for MYCBP2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MYCBP2 gene
- Search ViGene Biosciences for MYCBP2
CRISPR Products
-
OriGene CRISPR knockouts for MYCBP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for MYCBP2
miRNA for MYCBP2 Gene
- miRTarBase miRNAs that target MYCBP2
-
- hsa-mir-21-5p (MIRT030878)
- hsa-mir-15b-5p (MIRT046460)
- hsa-mir-183-5p (MIRT047123)
- hsa-mir-148a-3p (MIRT048035)
- hsa-mir-196a-5p (MIRT048178)
- hsa-mir-17-5p (MIRT050846)
- hsa-mir-377-3p (MIRT440167)
- hsa-mir-487a-3p (MIRT440168)
- hsa-mir-493-3p (MIRT440169)
- hsa-mir-6083 (MIRT721107)
- hsa-mir-4795-3p (MIRT721108)
- hsa-mir-496 (MIRT721109)
- hsa-mir-4742-3p (MIRT721110)
- hsa-mir-126-5p (MIRT721111)
- hsa-mir-606 (MIRT721112)
miRNA Products
- Search ViGene Biosciences for MYCBP2
Clone Products
- OriGene clones in human for MYCBP2
- OriGene ORF clones in human,rat for MYCBP2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for MYCBP2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for MYCBP2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MYCBP2 gene
Flow Cytometry Products
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MYCBP2 Gene
Localization for MYCBP2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for MYCBP2 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| cytosol | 4 |
| nucleus | 4 |
| cytoskeleton | 2 |
No data available for Gene Ontology (GO) - Cellular Components for MYCBP2 Gene
Pathways & Interactions for MYCBP2 Gene
More details on SuperPathways for MYCBP2| Superpath | Contained pathways | |
|---|---|---|
| 1 | Integrated Breast Cancer Pathway |
Pathways by source for MYCBP2 Gene
1 BioSystems pathway for MYCBP2 Gene
UniProtKB/Swiss-Prot O75592-MYCB2_HUMAN
- Pathway: Protein modification; protein ubiquitination.
No data available for SIGNOR curated interactions for MYCBP2 Gene
Drugs & Compounds for MYCBP2 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| phosphoric acid |
|
7664-38-2 |
|
Transcripts for MYCBP2 Gene
mRNA/cDNA for MYCBP2 Gene
- (16) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (270) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for MYCBP2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for MYCBP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for MYCBP2
miRNA Products
- Search ViGene Biosciences for MYCBP2
Clone Products
- OriGene clones in human for MYCBP2
- OriGene ORF clones in human,rat for MYCBP2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: |
| ExUns: | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31a | · | 31b | ^ | 32 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||
| SP2: | |||||||||||||||||||||
| SP3: | |||||||||||||||||||||
| SP4: | |||||||||||||||||||||
| SP5: | |||||||||||||||||||||
| SP6: |
Expression for MYCBP2 Gene
This gene is overexpressed in Peripheral blood mononuclear cells (35.4) and Testis (6.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for MYCBP2 Gene
SOURCE GeneReport for Unigene cluster for MYCBP2 Gene Hs.591221
mRNA Expression by UniProt/SwissProt for MYCBP2 Gene
O75592-MYCB2_HUMAN
Tissue specificity:
Expressed in all tissues examined, expression is exceptionally abundant in brain and thymus. Colocalizes with TSC1 and TSC2 along the neurites and in the growth cones. Colocalized with TSC1 in one of the filopodial extensions at the tip of a growth cone.
- Elite partner
Primer Products
-
OriGene qPCR primer pairs for MYCBP2
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MYCBP2 Gene
Orthologs for MYCBP2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | MYCBP2 35 |
|
||
| MYCBP2 36 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | MYCBP2 35 |
|
||
| MYCBP2 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Mycbp2 35 |
|
||
| Mycbp2 16 |
|
||||
| Mycbp2 36 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | MYCBP2 35 |
|
||
| MYCBP2 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Mycbp2 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | MYCBP2 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 36 |
|
OneToMany | |
| -- 36 |
|
OneToMany | |||
| -- 36 |
|
OneToMany | |||
| -- 36 |
|
OneToMany | |||
| -- 36 |
|
OneToMany | |||
| -- 36 |
|
OneToMany | |||
| -- 36 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | MYCBP2 35 |
|
||
| MYCBP2 36 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | MYCBP2 36 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | Str.3526 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | Dr.17163 35 |
|
||
| mycbp2 35 |
|
||||
| mycbp2 36 |
|
OneToOne | |||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12300 35 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011177 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | hiw 35 |
|
||
| hiw 36 |
|
OneToOne | |||
| worm (Caenorhabditis elegans) |
Secernentea | rpm-1 35 |
|
||
| F07B7.12 36 |
|
OneToMany | |||
| rpm-1 36 |
|
OneToMany | |||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.4977 35 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 36 |
|
OneToOne |
- Species with no ortholog for MYCBP2:
-
- 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 (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 MYCBP2 Gene
(3) SIMAP similar genes for MYCBP2 Gene using alignment to 4 proteins:
Pseudogenes.org Pseudogenes for MYCBP2 Gene
No data available for Paralogs for MYCBP2 Gene
Variants for MYCBP2 Gene
| SNP ID | Clin | Chr 13 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs9574002 | - | 77,126,326(+) | TCCCA(C/T)TGCTT | intron-variant, reference, missense | |
| rs35887505 | - | 77,171,531(+) | AGAGG(A/C/T)TCGAA | reference, missense | |
| rs11400 | -- | 77,097,740(-) | AAAAC(C/T)GAGAC | reference, synonymous-codon | |
| rs445080 | -- | 77,046,882(-) | TGCAG(C/T)GTGAT | intron-variant | |
| rs624575 | -- | 77,048,683(+) | ACTCG(C/T)AGATT | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv832653 | CNV | Loss | 17160897 |
| dgv575e1 | CNV | Complex | 17122850 |
| esv2515250 | CNV | Insertion | 19546169 |
| esv1226195 | CNV | Insertion | 17803354 |
| nsv528143 | CNV | Loss | 19592680 |
Gene Damage Index Score:
4.67;
65.85% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for MYCBP2 Gene
- Human Gene Mutation Database (HGMD)
- MYCBP2
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYCBP2 Gene
Disorders for MYCBP2 Gene
Relevant External Links for MYCBP2
No disorders were found for MYCBP2 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MYCBP2 Gene
Publications for MYCBP2 Gene
- The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A. … Ross M.T. (Nature 2004) 2 3 4 67
- Identification of a large Myc-binding protein that contains RCC1-like repeats. (PMID: 9689053) Guo Q. … Bishop J.M. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3
- Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. (PMID: 25158072) Yu D. … Pauls D.L. (Am J Psychiatry 2015) 3
- Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3
- Atypical ubiquitin E3 ligase complex Skp1-Pam-Fbxo45 controls the core epithelial-to-mesenchymal transition-inducing transcription factors. (PMID: 25460509) Xu M. … Yu J. (Oncotarget 2015) 3
Products for MYCBP2 Gene
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- OriGene qPCR primer pairs for MYCBP2
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- ViGene Biosciences adenoviral particle packaged cDNA for MYCBP2 gene
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- ViGene Biosciences ready-to-package AAV shRNAs for MYCBP2 gene
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- Santa Cruz Biotechnology (SCBT) Antibodies for MYCBP2
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Sources for MYCBP2 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
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- (130) diseasecard
- (131) NIH Rare Diseases
- (132) Orphanet
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- (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