Aliases for KIAA0319 Gene
Aliases for KIAA0319 Gene
External Ids for KIAA0319 Gene
- HGNC: 21580
- Entrez Gene: 9856
- Ensembl: ENSG00000137261
- OMIM: 609269
- UniProtKB: Q5VV43
Previous GeneCards Identifiers for KIAA0319 Gene
- GC06M024601
- GC06M024652
- GC06M024655
- GC06M024493
Summaries for KIAA0319 Gene
-
This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in this gene are associated with dyslexia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
GeneCards Summary for KIAA0319 Gene
KIAA0319 (KIAA0319) is a Protein Coding gene. Diseases associated with KIAA0319 include Dyslexia 2 and Dyslexia. Among its related pathways are Vesicle-mediated transport and Clathrin-mediated endocytosis. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is KIAA0319L.
UniProtKB/Swiss-Prot for KIAA0319 Gene
-
Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites.
Additional gene information for KIAA0319 Gene
- Monarch Initiative
- Search for KIAA0319 at DataMed
- Search for KIAA0319 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA0319 Gene
Genomics for KIAA0319 Gene
GeneHancer (GH) Regulatory Elements for KIAA0319 Gene
- Top Transcription factor binding sites by QIAGEN in the KIAA0319 gene promoter:
Regulatory Element Products
Genomic Locations for KIAA0319 Gene
- chr6:24,544,104-24,646,172
- (GRCh38/hg38)
- Size:
- 102,069 bases
- Orientation:
- Minus strand
- chr6:24,544,332-24,646,383
- (GRCh37/hg19)
Genomic View for KIAA0319 Gene
- Cytogenetic band:
-
- 6p22.3 by Ensembl
- 6p22.3 by Entrez Gene
- 6p22.3 by HGNC


RefSeq DNA sequence for KIAA0319 Gene
Proteins for KIAA0319 Gene
-
Protein details for KIAA0319 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q5VV43-K0319_HUMAN
- Recommended name:
- Dyslexia-associated protein KIAA0319
- Protein Accession:
- Q5VV43
- A7MD37
- B2RTU7
- B4DHA7
- B4DK75
- B7ZML3
- F5H123
- Q9UJC8
- Q9Y4G7
Protein attributes for KIAA0319 Gene
- Size:
- 1072 amino acids
- Molecular mass:
- 117763 Da
- Quaternary structure:
-
- Homodimer. Interacts with AP2M1; required for clathrin-mediated endocytosis.
- SequenceCaution:
-
- Sequence=BAA20777.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Protein Expression for KIAA0319 Gene
Post-translational modifications for KIAA0319 Gene
- N-glycosylated.
- O-glycosylated.
- Shedding of the extracellular domain and intramembrane cleavage produce several proteolytic products. The intramembrane cleavage releases a soluble cytoplasmic polypeptide that translocates to the nucleolus.
- Glycosylation at isoforms=2, 3, 4196, posLast=219219, isoforms=2, 3, 4262, isoforms=2, 3, 4394, posLast=421421, isoforms=2, 3, 4498, isoforms=2, 3, 4513, isoforms=2, 3, 4536, isoforms=2, 3, 4551, and isoforms=2, 3, 4733
Other Protein References for KIAA0319 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- NP_001161846.1
- NP_001161847.1
- NP_001161848.1
- NP_001161849.1
- NP_001239257.1
- NP_001337332.1
- NP_001337333.1
- NP_001337334.1
- NP_001337335.1
- NP_001337336.1
- NP_001337337.1
- NP_001337338.1
- NP_001337339.1
- NP_055624.2
- XP_011513327.1
- XP_011513328.1
- XP_016867030.1
- XP_016867031.1
- XP_016867032.1
- XP_016867033.1
- XP_016867034.1
- XP_016867035.1
- XP_016867036.1
- XP_016867037.1
- XP_016867038.1
- XP_016867039.1
- XP_016867040.1
- XP_016867041.1
- XP_016867042.1
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No data available for DME Specific Peptides for KIAA0319 Gene
Domains & Families for KIAA0319 Gene
Gene Families for KIAA0319 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted membrane proteins
- Predicted secreted proteins
Protein Domains for KIAA0319 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for KIAA0319 Gene
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Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for KIAA0319 Gene
Function for KIAA0319 Gene
Molecular function for KIAA0319 Gene
- GENATLAS Biochemistry:
- cDNA sequence,expressed in brain,>100kDa,related to C elegans twitchin
- UniProtKB/Swiss-Prot Function:
- Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites.
Phenotypes From GWAS Catalog for KIAA0319 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 19419997 |
Phenotypes for KIAA0319 Gene
- GenomeRNAi human phenotypes for KIAA0319:
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miRNA for KIAA0319 Gene
- miRTarBase miRNAs that target KIAA0319
-
- hsa-mir-3152-5p (MIRT642828)
- hsa-mir-4482-3p (MIRT642829)
- hsa-mir-7159-3p (MIRT642830)
- hsa-mir-6836-3p (MIRT642831)
- hsa-mir-6749-3p (MIRT642832)
- hsa-mir-4268 (MIRT642833)
- hsa-mir-6756-3p (MIRT642834)
- hsa-mir-3127-3p (MIRT642835)
- hsa-mir-6796-3p (MIRT642836)
- hsa-mir-99b-3p (MIRT642837)
- hsa-mir-99a-3p (MIRT642838)
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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KIAA0319 Gene
Localization for KIAA0319 Gene
Subcellular locations from UniProtKB/Swiss-Prot for KIAA0319 Gene
- Cell membrane; Single-pass type I membrane protein. Early endosome membrane; Single-pass type I membrane protein. Note=Low-abundance isoforms lacking the transmembrane domain have been described; these are secreted. {ECO:0000269 PubMed:18063668}.
- Vesicles (1)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005768 | endosome | IEA | -- |
GO:0005769 | early endosome | IDA | 19419997 |
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for KIAA0319 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Clathrin-mediated endocytosis | ||
2 | Vesicle-mediated transport |
Pathways by source for KIAA0319 Gene
4 Reactome pathways for KIAA0319 Gene
Interacting Proteins for KIAA0319 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001764 | neuron migration | IGI | 19679544 |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007399 | nervous system development | IEA | -- |
GO:0061024 | membrane organization | TAS | -- |
GO:2000171 | negative regulation of dendrite development | IGI | 19679544 |
No data available for SIGNOR curated interactions for KIAA0319 Gene
Transcripts for KIAA0319 Gene
mRNA/cDNA for KIAA0319 Gene
- (29) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (35) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for KIAA0319 Gene
- KIAA0319:
- Representative Sequences:
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-
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- 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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ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - |
Expression for KIAA0319 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
- Thyroid (Endocrine System)
- Intestine (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for KIAA0319 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KIAA0319 Gene
NURSA nuclear receptor signaling pathways regulating expression of KIAA0319 Gene:
KIAA0319SOURCE GeneReport for Unigene cluster for KIAA0319 Gene:
Hs.26441mRNA Expression by UniProt/SwissProt for KIAA0319 Gene:
Q5VV43-K0319_HUMANEvidence on tissue expression from TISSUES for KIAA0319 Gene
- Nervous system(4.7)
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No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KIAA0319 Gene
Orthologs for KIAA0319 Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | KIAA0319 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | KIAA0319 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | KIAA0319 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | D130043K22Rik 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | RGD1307443 33 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | KIAA0319 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | KIAA0319 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | KIAA0319 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | kiaa0319 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | LOC794624 33 |
|
||
KIAA0319 34 |
|
OneToOne | |||
fruit fly (Drosophila melanogaster) |
Insecta | CG7565 35 33 34 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008639 33 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for KIAA0319 was found in the sources mined by GeneCards:
-
- 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)
- 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)
- worm (Caenorhabditis elegans)
Paralogs for KIAA0319 Gene
(1) SIMAP similar genes for KIAA0319 Gene using alignment to 2 proteins:
Variants for KIAA0319 Gene
SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000051148 | -- | 24,620,350(-) | A/C | genic_upstream_transcript_variant, intron_variant | |
rs1000056499 | -- | 24,568,107(-) | T/C | intron_variant | |
rs1000061878 | -- | 24,577,291(-) | C/ | intron_variant | |
rs1000196054 | -- | 24,633,820(-) | T/G | genic_upstream_transcript_variant, intron_variant | |
rs1000196396 | -- | 24,558,174(-) | G/A | intron_variant |
Additional Variant Information for KIAA0319 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA0319 Gene
Disorders for KIAA0319 Gene
Disorder | Aliases | PubMed IDs |
---|---|---|
dyslexia 2 |
|
|
dyslexia |
|
|
reading disorder |
|
|
specific developmental disorder |
|
|
speech and communication disorders |
|
|
UniProtKB/Swiss-Prot
K0319_HUMAN- Dyslexia 2 (DYX2) [MIM:600202]: A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability. {ECO:0000269 PubMed:16600991}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Additional Disease Information for KIAA0319
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for KIAA0319 Gene
Publications for KIAA0319 Gene
- Investigation of interaction between DCDC2 and KIAA0319 in a large German dyslexia sample. (PMID: 18810304) Ludwig KU … Hoffmann P (Journal of neural transmission (Vienna, Austria : 1996) 2008) 3 22 44 58
- Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia. (PMID: 17033633) Harold D … Monaco AP (Molecular psychiatry 2006) 3 22 44 58
- Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia. (PMID: 15717286) Cope N … Williams J (American journal of human genetics 2005) 3 4 44 58
- Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4 58
- Association of reading disabilities with regions marked by acetylated H3 histones in KIAA0319. (PMID: 19588467) Couto JM … Barr CL (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 44 58
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- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for KIAA0319
- Novus Biologicals proteins for KIAA0319
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- Novus Biologicals Tissue Microarrays
- Abcam antibodies for KIAA0319
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- Browse Primary Antibodies
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- Browse Antibodies at Cloud-Clone Corp.
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- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for KIAA0319
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for KIAA0319
- VectorBuilder custom plasmid, inducible vectors for KIAA0319
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KIAA0319
- 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
- antibodies-online: Search results for 37 available KIAA0319 Antibodies ranked by validation data
- Compare Top KIAA0319 Antibodies
- antibodies-online: Search results for available KIAA0319 related products ranked by validation data
- antibodies-online: Search results for 5 available KIAA0319 Proteins ranked by validation data
- Compare Top KIAA0319 Proteins
- Quality Products:
- GeneTex KIAA0319 antibody for KIAA0319
- Search GeneTex for Proteins for KIAA0319
- ViGene Biosciences adenoviral particle packaged cDNA for KIAA0319 gene
- ViGene Biosciences lentiviral particle packaged cDNA for KIAA0319 gene
- ViGene Biosciences ready-to-package AAV shRNAs for KIAA0319 gene
- Search ViGene Biosciences for KIAA0319
- Browse Santa Cruz Biotechnology (SCBT) Antibodies
- Search Santa Cruz Biotechnology (SCBT) for KIAA0319 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for KIAA0319
- Horizon Cell Lines for KIAA0319
- genomics-online: cdna clones - Search results for available KIAA0319 gene related products
- orf clones - Search results for available KIAA0319 gene related products
- genomics-online: gRNA clones - Search results for available KIAA0319 gene related products
- genomics-online: primer clones - Search results for available KIAA0319 gene related products
- genomics-online: shRNA clones - Search results for available KIAA0319 gene related products
Sources for KIAA0319 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