Aliases for TBC1D14 Gene
Aliases for TBC1D14 Gene
External Ids for TBC1D14 Gene
- HGNC: 29246
- Entrez Gene: 57533
- Ensembl: ENSG00000132405
- OMIM: 614855
- UniProtKB: Q9P2M4
Previous GeneCards Identifiers for TBC1D14 Gene
- GC04P006976
- GC04P007029
- GC04P006839
Summaries for TBC1D14 Gene
GeneCards Summary for TBC1D14 Gene
TBC1D14 (TBC1 Domain Family Member 14) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and TBC/RABGAPs. Gene Ontology (GO) annotations related to this gene include protein kinase binding and GTPase activator activity. An important paralog of this gene is TBC1D12.
UniProtKB/Swiss-Prot for TBC1D14 Gene
-
Negative regulator of starvation-induced autophagosome formation.
Additional gene information for TBC1D14 Gene
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D14 Gene
Genomics for TBC1D14 Gene
GeneHancer (GH) Regulatory Elements for TBC1D14 Gene
Promoters and enhancers for TBC1D14 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around TBC1D14 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for TBC1D14 Gene
Genomic Locations for TBC1D14 Gene
- chr4:6,909,242-7,033,118
- (GRCh38/hg38)
- Size:
- 123,877 bases
- Orientation:
- Plus strand
- chr4:6,910,969-7,034,845
- (GRCh37/hg19)
Genomic View for TBC1D14 Gene
Genes around TBC1D14 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4p16.1 by Ensembl
- 4p16.1 by Entrez Gene
- 4p16.1 by HGNC
TBC1D14 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 TBC1D14 Gene
Proteins for TBC1D14 Gene
-
Protein details for TBC1D14 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9P2M4-TBC14_HUMAN
- Recommended name:
- TBC1 domain family member 14
- Protein Accession:
- Q9P2M4
- B9A6L5
- D3DVT4
- E9PAZ6
- Q8IW15
- Q8NDK3
Protein attributes for TBC1D14 Gene
- Size:
- 693 amino acids
- Molecular mass:
- 78137 Da
- Quaternary structure:
-
- Interacts with ULK1. May interact with RAB11A and RAB11B, but does not exhibit any GTPase-activating activity toward these proteins.
- SequenceCaution:
-
- Sequence=AAH41167.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA92560.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Protein Expression for TBC1D14 Gene
Post-translational modifications for TBC1D14 Gene
No Post-translational modifications
Other Protein References for TBC1D14 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
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-
Quality Products:
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Assay Products
No data available for DME Specific Peptides for TBC1D14 Gene
Domains & Families for TBC1D14 Gene
Gene Families for TBC1D14 Gene
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for TBC1D14 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for TBC1D14 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for TBC1D14 Gene
Function for TBC1D14 Gene
Molecular function for TBC1D14 Gene
- UniProtKB/Swiss-Prot Function:
- Negative regulator of starvation-induced autophagosome formation.
Phenotypes From GWAS Catalog for TBC1D14 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005096 | GTPase activator activity | IBA | -- |
| GO:0005515 | protein binding | IPI | 22613832 |
| GO:0017137 | Rab GTPase binding | IBA | -- |
| GO:0019901 | protein kinase binding | IPI | 22613832 |
Phenotypes for TBC1D14 Gene
- MGI mutant phenotypes for TBC1D14:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for TBC1D14:
Animal Model Products
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-
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miRNA for TBC1D14 Gene
- miRTarBase miRNAs that target TBC1D14
-
- hsa-mir-155-5p (MIRT020787)
- hsa-mir-320a (MIRT044844)
- hsa-mir-16-5p (MIRT726369)
- hsa-mir-195-5p (MIRT726370)
- hsa-mir-15b-5p (MIRT726371)
- hsa-mir-15a-5p (MIRT726372)
- hsa-mir-149-5p (MIRT762854)
- hsa-mir-24-3p (MIRT764056)
- hsa-mir-4252 (MIRT768053)
- hsa-mir-4268 (MIRT768234)
- hsa-mir-4284 (MIRT768381)
- hsa-mir-4448 (MIRT769182)
- hsa-mir-6772-3p (MIRT778698)
- hsa-mir-892b (MIRT782634)
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D14 Gene
Localization for TBC1D14 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TBC1D14 Gene
- Golgi apparatus, cis-Golgi network. Golgi apparatus, trans-Golgi network. Note=After amino acid starvation, Golgi apparatus-associated protein levels increase compared with fed conditions. May be cycling between the Golgi apparatus and an endosomal pool, redistributing to the Golgi apparatus upon starvation.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| endosome | 5 |
| golgi apparatus | 4 |
| cytosol | 3 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
- Golgi apparatus (3)
- Vesicles (3)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005776 | autophagosome | IDA | 22613832 |
| GO:0005794 | Golgi apparatus | IEA,IDA | -- |
| GO:0005829 | cytosol | IEA | -- |
| GO:0043231 | intracellular membrane-bounded organelle | IDA | -- |
Pathways & Interactions for TBC1D14 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Vesicle-mediated transport | ||
| 2 | TBC/RABGAPs | ||
Pathways by source for TBC1D14 Gene
3 Reactome pathways for TBC1D14 Gene
Interacting Proteins for TBC1D14 Gene
Selected Interacting proteins:
ENSP00000386921
Q9P2M4-TBC14_HUMAN
for TBC1D14 Gene via
STRING
MINT
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006886 | intracellular protein transport | IBA | -- |
| GO:0010507 | negative regulation of autophagy | IMP | 22613832 |
| GO:0031338 | regulation of vesicle fusion | IBA | -- |
| GO:0071955 | recycling endosome to Golgi transport | IMP | 17562788 |
| GO:0090630 | activation of GTPase activity | IBA | -- |
No data available for SIGNOR curated interactions for TBC1D14 Gene
Transcripts for TBC1D14 Gene
mRNA/cDNA for TBC1D14 Gene
- (14) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (317) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for TBC1D14 Gene
CRISPR Products
-
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-
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- VectorBuilder custom plasmid, inducible vectors for TBC1D14
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-
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
- genomics-online: cdna clones - Search results for 144 available TBC1D14 gene related products
- Overview of 144 available TBC1D14 gene related products
-
Recommended
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Recommended
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||||||||
| SP4: |
Expression for TBC1D14 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
-
Testis (Reproductive System)
This gene is overexpressed in Testis (28.5), Adipocyte (22.7), and CD8 Tcells (7.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TBC1D14 Gene
NURSA nuclear receptor signaling pathways regulating expression of TBC1D14 Gene:
TBC1D14SOURCE GeneReport for Unigene cluster for TBC1D14 Gene:
Hs.518611Evidence on tissue expression from TISSUES for TBC1D14 Gene
- Nervous system(4.8)
- Liver(4.2)
Primer Products
-
OriGene qPCR primer pairs for TBC1D14
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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 TBC1D14 Gene
Orthologs for TBC1D14 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TBC1D14 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | TBC1D14 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | TBC1D14 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Tbc1d14 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Tbc1d14 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | TBC1D14 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
ManyToMany | |
| chicken (Gallus gallus) |
Aves | TBC1D14 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
ManyToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tbc1d14 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.34692 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | tbc1d14 33 34 |
|
||
| wufi42a03 33 |
|
||||
| worm (Caenorhabditis elegans) |
Secernentea | tbc-12 34 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GYP5 34 |
|
ManyToMany | |
| GYL1 34 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10585 34 |
|
OneToMany |
- Species where no ortholog for TBC1D14 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- 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)
- fruit fly (Drosophila melanogaster)
- 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)
Paralogs for TBC1D14 Gene
Paralogs for TBC1D14 Gene
(2) SIMAP similar genes for TBC1D14 Gene using alignment to 6 proteins:
Variants for TBC1D14 Gene
| SNP ID | Clin | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs10000433 | -- | 6,959,074(+) | G/A | genic_upstream_transcript_variant, intron_variant | |
| rs1000069459 | -- | 6,924,946(+) | A/C | genic_upstream_transcript_variant, intron_variant | |
| rs1000069927 | -- | 6,996,528(+) | C/T | intron_variant | |
| rs1000072627 | -- | 7,011,998(+) | A/G | intron_variant | |
| rs1000100382 | -- | 6,939,185(+) | T/C | genic_upstream_transcript_variant, intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1456e212 | CNV | loss | 25503493 |
| dgv1457e212 | CNV | loss | 25503493 |
| esv1699116 | CNV | deletion | 17803354 |
| esv2105831 | CNV | deletion | 18987734 |
| esv2727013 | CNV | deletion | 23290073 |
| esv2727014 | CNV | deletion | 23290073 |
| esv2727015 | CNV | deletion | 23290073 |
| esv2727016 | CNV | deletion | 23290073 |
| esv2759221 | CNV | gain | 17122850 |
| esv3358199 | CNV | duplication | 20981092 |
| esv34033 | CNV | loss | 18971310 |
| esv34196 | OTHER | inversion | 12058347 |
| esv3599514 | CNV | loss | 21293372 |
| nsv1073727 | CNV | deletion | 25765185 |
| nsv1112849 | CNV | deletion | 24896259 |
| nsv1136813 | CNV | deletion | 24896259 |
| nsv4216 | CNV | deletion | 18451855 |
| nsv428436 | CNV | gain | 18775914 |
| nsv469847 | CNV | gain | 16826518 |
| nsv593547 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.05;
37.56% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TBC1D14 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- TBC1D14
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D14 Gene
Disorders for TBC1D14 Gene
Additional Disease Information for TBC1D14
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for TBC1D14 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D14 Gene
Publications for TBC1D14 Gene
- Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
- TBC1D14 regulates autophagy via the TRAPP complex and ATG9 traffic. (PMID: 26711178) Lamb CA … Tooze SA (The EMBO journal 2016) 2 3 58
- TBC1D14 regulates autophagosome formation via Rab11- and ULK1-positive recycling endosomes. (PMID: 22613832) Longatti A … Tooze SA (The Journal of cell biology 2012) 3 4 58
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
- Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PMID: 19077034) Ishibashi K … Fukuda M (Genes to cells : devoted to molecular & cellular mechanisms 2009) 3 4 58
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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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- Quality Products:
- GeneTex TBC1D14 antibody for TBC1D14
- Search GeneTex for Proteins for TBC1D14
- ViGene Biosciences adenoviral particle packaged cDNA for TBC1D14 gene
- ViGene Biosciences lentiviral particle packaged cDNA for TBC1D14 gene
- ViGene Biosciences ready-to-package AAV shRNAs for TBC1D14 gene
- Search ViGene Biosciences for TBC1D14
- Horizon Cell Lines for TBC1D14
- genomics-online: cdna clones - Search results for 144 available TBC1D14 gene related products
- Overview of 144 available TBC1D14 gene related products
- Recommended
- orf clones - Search results for 144 available TBC1D14 gene related products
- Overview of 144 available TBC1D14 gene related products
- Recommended
- genomics-online: gRNA clones - Search results for 144 available TBC1D14 gene related products
- Overview of 144 available TBC1D14 gene related products
- Recommended
- genomics-online: primer clones - Search results for 144 available TBC1D14 gene related products
- Overview of 144 available TBC1D14 gene related products
- Recommended
- genomics-online: shRNA clones - Search results for 144 available TBC1D14 gene related products
- Overview of 144 available TBC1D14 gene related products
- Recommended
Sources for TBC1D14 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