Aliases for DYNC2H1 Gene
Aliases for DYNC2H1 Gene
External Ids for DYNC2H1 Gene
- HGNC: 2962
- Entrez Gene: 79659
- Ensembl: ENSG00000187240
- OMIM: 603297
- UniProtKB: Q8NCM8
Previous HGNC Symbols for DYNC2H1 Gene
- DNCH2
Previous GeneCards Identifiers for DYNC2H1 Gene
- GC11P102487
- GC11P102980
- GC11P098908
Summaries for DYNC2H1 Gene
-
This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]
GeneCards Summary for DYNC2H1 Gene
DYNC2H1 (Dynein Cytoplasmic 2 Heavy Chain 1) is a Protein Coding gene. Diseases associated with DYNC2H1 include Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly and Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport. Gene Ontology (GO) annotations related to this gene include ATPase activity and motor activity. An important paralog of this gene is DNAH5.
UniProtKB/Swiss-Prot for DYNC2H1 Gene
-
May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells (By similarity).
Additional gene information for DYNC2H1 Gene
- Monarch Initiative
- Search for DYNC2H1 at DataMed
- Search for DYNC2H1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DYNC2H1 Gene
Genomics for DYNC2H1 Gene
GeneHancer (GH) Regulatory Elements for DYNC2H1 Gene
Regulatory Element Products
Genomic Locations for DYNC2H1 Gene
- chr11:103,109,431-103,479,863
- (GRCh38/hg38)
- Size:
- 370,433 bases
- Orientation:
- Plus strand
- chr11:102,980,160-103,350,591
- (GRCh37/hg19)
Genomic View for DYNC2H1 Gene
- Cytogenetic band:
-
- 11q22.3 by Ensembl
- 11q22.3 by Entrez Gene
- 11q22.3 by HGNC


RefSeq DNA sequence for DYNC2H1 Gene
Proteins for DYNC2H1 Gene
-
Protein details for DYNC2H1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8NCM8-DYHC2_HUMAN
- Recommended name:
- Cytoplasmic dynein 2 heavy chain 1
- Protein Accession:
- Q8NCM8
- O00432
- Q16693
- Q3C1U8
- Q4AC93
- Q6ZMX7
- Q6ZUM6
- Q7Z363
- Q8N977
- Q92815
- Q9HAE4
Protein attributes for DYNC2H1 Gene
- Size:
- 4307 amino acids
- Molecular mass:
- 492622 Da
- Quaternary structure:
-
- The cytoplasmic dynein complex 2 is probably composed by a heavy chain DYNC2H1 homodimer and a number of DYNC2LI1 light intermediate chains.
- SequenceCaution:
-
- Sequence=BAB13905.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC04578.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD18598.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for DYNC2H1 Gene
Post-translational modifications for DYNC2H1 Gene
Other Protein References for DYNC2H1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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No data available for DME Specific Peptides for DYNC2H1 Gene
Domains & Families for DYNC2H1 Gene
Gene Families for DYNC2H1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for DYNC2H1 Gene
Suggested Antigen Peptide Sequences for DYNC2H1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8NCM8- Family:
-
- Belongs to the dynein heavy chain family.
Function for DYNC2H1 Gene
Molecular function for DYNC2H1 Gene
- UniProtKB/Swiss-Prot Function:
- May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells (By similarity).
Phenotypes From GWAS Catalog for DYNC2H1 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003774 | motor activity | NAS | 8666668 |
GO:0003777 | microtubule motor activity | IEA | -- |
GO:0005524 | ATP binding | IEA | -- |
GO:0008569 | contributes_to ATP-dependent microtubule motor activity, minus-end-directed | IDA | 21723285 |
GO:0016887 | ATPase activity | IEA | -- |
Phenotypes for DYNC2H1 Gene
- MGI mutant phenotypes for DYNC2H1:
-
inferred from 6 alleles
- nervous system phenotype
- respiratory system phenotype
- cardiovascular system phenotype
- mortality/aging
- cellular phenotype
- growth/size/body region phenotype
- digestive/alimentary phenotype
- vision/eye phenotype
- embryo phenotype
- skeleton phenotype
- renal/urinary system phenotype
- craniofacial phenotype
- limbs/digits/tail phenotype
- GenomeRNAi human phenotypes for DYNC2H1:
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miRNA for DYNC2H1 Gene
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No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for DYNC2H1 Gene
Localization for DYNC2H1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for DYNC2H1 Gene
- Cytoplasm, cytoskeleton, cilium axoneme. Cell membrane; Peripheral membrane protein. Cytoplasm. Note=Localizes to the apical cytoplasm (By similarity). According to PubMed:8666668, it localizes to Golgi apparatus, cytoplasmic vesicle and endoplasmic reticulum (PubMed:8666668). {ECO:0000250 UniProtKB:Q9JJ79, ECO:0000269 PubMed:8666668}.
- Mitochondria (3)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005794 | Golgi apparatus | IDA | 8666668 |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005868 | cytoplasmic dynein complex | IDA | 21723285 |
GO:0005874 | microtubule | IDA,IEA | 21525035 |
Pathways & Interactions for DYNC2H1 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Organelle biogenesis and maintenance |
.56
|
|
2 | Signaling by Hedgehog | ||
3 | Phagosome | ||
4 | Salmonella infection (KEGG) | ||
5 | Vasopressin-regulated water reabsorption |
Pathways by source for DYNC2H1 Gene
6 Reactome pathways for DYNC2H1 Gene
3 KEGG pathways for DYNC2H1 Gene
Interacting Proteins for DYNC2H1 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007018 | microtubule-based movement | IEA | -- |
GO:0007030 | Golgi organization | IDA | 8666668 |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0030030 | cell projection organization | IEA | -- |
GO:0035721 | intraciliary retrograde transport | IBA | -- |
No data available for SIGNOR curated interactions for DYNC2H1 Gene
Transcripts for DYNC2H1 Gene
mRNA/cDNA for DYNC2H1 Gene
- (7) REFSEQ mRNAs :
- (15) Additional mRNA sequences :
- (5) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for DYNC2H1 Gene
- Dynein, cytoplasmic 2, heavy chain 1:
- Representative Sequences:
CRISPR Products
-
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Clone Products
- VectorBuilder custom plasmid, inducible vectors for DYNC2H1
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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
- Addgene plasmids for DYNC2H1
- Applied Biological Materials Clones for DYNC2H1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for DYNC2H1 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DYNC2H1 Gene
NURSA nuclear receptor signaling pathways regulating expression of DYNC2H1 Gene:
DYNC2H1SOURCE GeneReport for Unigene cluster for DYNC2H1 Gene:
Hs.503721Evidence on tissue expression from TISSUES for DYNC2H1 Gene
- Nervous system(4.3)
- Eye(4.2)
- Liver(4.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for DYNC2H1 Gene
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
- brain
- cheek
- chin
- cranial nerve
- ear
- epiglottis
- eye
- eyelid
- face
- forehead
- head
- jaw
- larynx
- lip
- mandible
- maxilla
- mouth
- neck
- nose
- outer ear
- pharynx
- skull
- tongue
- tooth
- chest wall
- clavicle
- heart
- lung
- rib
- rib cage
- scapula
- sternum
- abdominal wall
- biliary tract
- gallbladder
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
- spleen
- pelvis
- penis
- placenta
- testicle
- ureter
- urethra
- urinary bladder
- uterus
- vagina
- vulva
- arm
- digit
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- blood
- blood vessel
- coagulation system
- lymph vessel
- peripheral nervous system
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for DYNC2H1
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No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for DYNC2H1 Gene
Orthologs for DYNC2H1 Gene
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | DYNC2H1 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | DYNC2H1 33 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | DYNC2H1 34 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | DYNC2H1 33 34 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | DYNC2H1 34 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Dync2h1 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Dync2h1 33 |
|
||
chicken (Gallus gallus) |
Aves | DYNC2H1 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | DYNC2H1 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | dync2h1 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | DYNC2H1 (2 of 2) 34 |
|
OneToMany | |
CABZ01078919.1 34 |
|
OneToMany | |||
LOC100332402 33 |
|
||||
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1843 33 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | btv 34 |
|
OneToOne | |
worm (Caenorhabditis elegans) |
Secernentea | che-3 33 34 |
|
||
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | DYN1 34 |
|
OneToMany | |
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for DYNC2H1 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)
- 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 DYNC2H1 Gene
(8) SIMAP similar genes for DYNC2H1 Gene using alignment to 4 proteins:
Variants for DYNC2H1 Gene
SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1005988502 | uncertain-significance, Jeune thoracic dystrophy, Short Rib Polydactyly Syndrome | 103,222,044(+) | G/A/C | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
rs1018379052 | uncertain-significance, Short Rib Polydactyly Syndrome, Jeune thoracic dystrophy | 103,156,645(+) | G/A | coding_sequence_variant, synonymous_variant | |
rs1043384862 | likely-pathogenic, pathogenic, not provided, Short-rib thoracic dysplasia 3 with or without polydactyly, Short-rib polydactyly syndrome type III | 103,165,911(+) | C/T | coding_sequence_variant, missense_variant | |
rs1057518898 | pathogenic, Bowing of the long bones, Intrauterine growth retardation, Narrow chest | 103,256,241(+) | G/A/C | genic_downstream_transcript_variant, splice_donor_variant | |
rs1060501431 | uncertain-significance, Jeune thoracic dystrophy | 103,209,878(+) | A/G | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant |
Additional Variant Information for DYNC2H1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DYNC2H1 Gene
Disorders for DYNC2H1 Gene

(13) MalaCards diseases for DYNC2H1 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
short-rib thoracic dysplasia 3 with or without polydactyly |
|
|
short-rib thoracic dysplasia 6 with or without polydactyly |
|
|
short-rib thoracic dysplasia 1 with or without polydactyly |
|
|
asphyxiating thoracic dystrophy |
|
|
polydactyly |
|
|
UniProtKB/Swiss-Prot
DYHC2_HUMAN- Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a trident appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269 PubMed:19361615, ECO:0000269 PubMed:19442771, ECO:0000269 PubMed:22499340, ECO:0000269 PubMed:23456818}. Note=The disease is caused by mutations affecting the gene represented in this entry. In some cases DYNC2H1 mutations result in disease phenotype in the presence of mutations in NEK1 indicating digenic inheritance (digenic short rib-polydactyly syndrome 3/6 with polydactyly) (PubMed:21211617). {ECO:0000269 PubMed:21211617}.
Additional Disease Information for DYNC2H1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for DYNC2H1 Gene
Publications for DYNC2H1 Gene
- DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. (PMID: 19442771) Dagoneau N … Cormier-Daire V (American journal of human genetics 2009) 3 4 22 58
- Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. (PMID: 19361615) Merrill AE … Krakow D (American journal of human genetics 2009) 3 4 22 58
- Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene. (PMID: 9373155) Neesen J … Schmid M (Gene 1997) 2 3 4 58
- Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. (PMID: 23456818) Schmidts M … Mitchison HM (Journal of medical genetics 2013) 3 4 58
- NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. (PMID: 22499340) El Hokayem J … Cormier-Daire V (Journal of medical genetics 2012) 3 4 58
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- Compare Top DYNC2H1 Elisa Kits
- Recommended
- antibodies-online: Search results for available DYNC2H1 related products ranked by validation data
- Search GeneTex for Antibodies for DYNC2H1
- Search GeneTex for Proteins for DYNC2H1
- ViGene Biosciences adenoviral particle packaged cDNA for DYNC2H1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for DYNC2H1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for DYNC2H1 gene
- Search ViGene Biosciences for DYNC2H1
- Browse Santa Cruz Biotechnology (SCBT) Antibodies
- Search Santa Cruz Biotechnology (SCBT) for DYNC2H1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for DYNC2H1
- Horizon Cell Lines for DYNC2H1
- genomics-online: cdna clones - Search results for 63 available DYNC2H1 gene related products
- Overview of 63 available DYNC2H1 gene related products
- orf clones - Search results for 63 available DYNC2H1 gene related products
- Overview of 63 available DYNC2H1 gene related products
- genomics-online: gRNA clones - Search results for 63 available DYNC2H1 gene related products
- Overview of 63 available DYNC2H1 gene related products
- genomics-online: primer clones - Search results for 63 available DYNC2H1 gene related products
- Overview of 63 available DYNC2H1 gene related products
- genomics-online: shRNA clones - Search results for 63 available DYNC2H1 gene related products
- Overview of 63 available DYNC2H1 gene related products
Sources for DYNC2H1 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