Aliases for NECAP1 Gene
Aliases for NECAP1 Gene
External Ids for NECAP1 Gene
- HGNC: 24539
- Entrez Gene: 25977
- Ensembl: ENSG00000089818
- OMIM: 611623
- UniProtKB: Q8NC96
Previous GeneCards Identifiers for NECAP1 Gene
- GC12P008110
- GC12P007758
- GC12P007989
- GC12P008234
- GC12P008046
- GC12P007926
Summaries for NECAP1 Gene
-
This gene encodes a protein containing two characteristic WXXF motifs. The encoded protein localizes to clathrin-coated vesicles, where it binds components of the adapter protein complexes and aids in endocytosis. Loss of function of this gene results in early infantile epileptic encephalopathy-21. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
GeneCards Summary for NECAP1 Gene
NECAP1 (NECAP Endocytosis Associated 1) is a Protein Coding gene. Diseases associated with NECAP1 include Epileptic Encephalopathy, Early Infantile, 21 and Undetermined Early-Onset Epileptic Encephalopathy. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. An important paralog of this gene is NECAP2.
UniProtKB/Swiss-Prot for NECAP1 Gene
-
Involved in endocytosis.
Additional gene information for NECAP1 Gene
- Monarch Initiative
- Search for NECAP1 at DataMed
- Search for NECAP1 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NECAP1 Gene
Genomics for NECAP1 Gene
GeneHancer (GH) Regulatory Elements for NECAP1 Gene
Regulatory Element Products
Genomic Locations for NECAP1 Gene
- chr12:8,076,939-8,097,859
- (GRCh38/hg38)
- Size:
- 20,921 bases
- Orientation:
- Plus strand
- chr12:8,234,807-8,250,373
- (GRCh37/hg19)
Genomic View for NECAP1 Gene
- Cytogenetic band:
-
- 12p13.31 by Ensembl
- 12p13.31 by Entrez Gene
- 12p13.31 by HGNC


RefSeq DNA sequence for NECAP1 Gene
Proteins for NECAP1 Gene
-
Protein details for NECAP1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8NC96-NECP1_HUMAN
- Recommended name:
- Adaptin ear-binding coat-associated protein 1
- Protein Accession:
- Q8NC96
- Q2NL73
- Q5XG95
- Q6NWY6
- Q8N153
- Q8NCB0
- Q9BU52
- Q9Y407
Protein attributes for NECAP1 Gene
- Size:
- 275 amino acids
- Molecular mass:
- 29737 Da
- Quaternary structure:
-
- Interacts with AP1G1 and AP2A1 components of the adapter protein complexes AP-1 and AP-2. Interacts with the GAE domain proteins GGA1, GGA2 and GGA3 (By similarity).
- SequenceCaution:
-
- Sequence=AAH02888.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for NECAP1 Gene
Post-translational modifications for NECAP1 Gene
Other Protein References for NECAP1 Gene
Antibody Products
- Novus Biologicals Antibodies for NECAP1
-
Abcam antibodies for NECAP1
- Invitrogen Antibodies for NECAP1
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Protein Products
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OriGene Purified Proteins for NECAP1
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Quality Products:
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Abcam proteins for NECAP1
Assay Products
No data available for DME Specific Peptides for NECAP1 Gene
Domains & Families for NECAP1 Gene
Gene Families for NECAP1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for NECAP1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for NECAP1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8NC96UniProtKB/Swiss-Prot:
NECP1_HUMAN :- The WXXF motifs mediate binding of accessory proteins to the ear-domain of AP-1, GGAs and AP-2 through hydrophobic interactions. Selective binding to the GAE domains of AP-1 or to the alpha-ear domain of AP-2 is tuned by the acidic context surrounding the motif and the properties of the second residue of the motif itself. The WXXF motif 1, which is preceded by an acidic residue and has a glycine in second position mediates specific interaction with AP-1. The WXXF motif 2, which is followed by the C-terminal carboxyl group negative charge, allows specific interaction with AP-2 (By similarity).
- Belongs to the NECAP family.
- Domain:
-
- The WXXF motifs mediate binding of accessory proteins to the ear-domain of AP-1, GGAs and AP-2 through hydrophobic interactions. Selective binding to the GAE domains of AP-1 or to the alpha-ear domain of AP-2 is tuned by the acidic context surrounding the motif and the properties of the second residue of the motif itself. The WXXF motif 1, which is preceded by an acidic residue and has a glycine in second position mediates specific interaction with AP-1. The WXXF motif 2, which is followed by the C-terminal carboxyl group negative charge, allows specific interaction with AP-2 (By similarity).
- Family:
-
- Belongs to the NECAP family.
Function for NECAP1 Gene
Molecular function for NECAP1 Gene
- UniProtKB/Swiss-Prot Function:
- Involved in endocytosis.
Phenotypes for NECAP1 Gene
- GenomeRNAi human phenotypes for NECAP1:
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miRNA for NECAP1 Gene
- miRTarBase miRNAs that target NECAP1
-
- hsa-mir-1254 (MIRT035856)
- hsa-mir-423-5p (MIRT038063)
- hsa-mir-1207-5p (MIRT067285)
- hsa-mir-2054 (MIRT067286)
- hsa-mir-4310 (MIRT067288)
- hsa-mir-4763-3p (MIRT067290)
- hsa-mir-5197-5p (MIRT067293)
- hsa-mir-6132 (MIRT067294)
- hsa-mir-6836-5p (MIRT067296)
- hsa-mir-7150 (MIRT067298)
- hsa-mir-7157-5p (MIRT067299)
- hsa-mir-32-5p (MIRT136291)
- hsa-mir-92a-3p (MIRT136292)
- hsa-mir-335-3p (MIRT136300)
- hsa-mir-92b-3p (MIRT136301)
- hsa-mir-5096 (MIRT485309)
- hsa-mir-513a-5p (MIRT485310)
- hsa-mir-4736 (MIRT485311)
- hsa-mir-27b-3p (MIRT485312)
- hsa-mir-27a-3p (MIRT485313)
miRNA Products
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-
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- Mammalian expression: PiggyBac
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
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- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for NECAP1 Gene
Localization for NECAP1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for NECAP1 Gene
- Cytoplasmic vesicle, clathrin-coated vesicle membrane. Cell membrane. Note=Colocalizes with AP-2 at the plasma membrane. {ECO:0000250}.
- Cytosol (2)
- Vesicles (2)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | IEA | -- |
GO:0005905 | clathrin-coated pit | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0030125 | clathrin vesicle coat | IEA | -- |
Pathways & Interactions for NECAP1 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Clathrin derived vesicle budding | ||
2 | Clathrin-mediated endocytosis | ||
3 | Vesicle-mediated transport |
Pathways by source for NECAP1 Gene
Interacting Proteins for NECAP1 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006810 | transport | IEA | -- |
GO:0006897 | endocytosis | IEA | -- |
GO:0015031 | protein transport | IEA | -- |
GO:0061024 | membrane organization | TAS | -- |
No data available for SIGNOR curated interactions for NECAP1 Gene
Transcripts for NECAP1 Gene
mRNA/cDNA for NECAP1 Gene
- (1) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (237) Selected AceView cDNA sequences:
- (27) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for NECAP1 Gene
CRISPR Products
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Vectors and viruses for KO, Activation, Repression, and more
-
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miRNA Products
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Clone Products
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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
- Applied Biological Materials Clones for NECAP1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||
SP6: |
Expression for NECAP1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
-
Brain (Nervous System)
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NECAP1 Gene
NURSA nuclear receptor signaling pathways regulating expression of NECAP1 Gene:
NECAP1SOURCE GeneReport for Unigene cluster for NECAP1 Gene:
Hs.555927Evidence on tissue expression from TISSUES for NECAP1 Gene
- Nervous system(5)
- Kidney(4.2)
- Lung(4.2)
- Muscle(4.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for NECAP1 Gene
- ectoderm
- endoderm
- mesoderm
- digestive
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
- brain
- cerebellum
- cranial nerve
- eye
- face
- forehead
- head
- lip
- mouth
- nose
- pharynx
- skull
- chest wall
- diaphragm
- esophagus
- lung
- rib
- rib cage
- abdominal wall
- intestine
- large intestine
- stomach
- pelvis
- rectum
- digit
- finger
- foot
- hand
- lower limb
- upper limb
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for NECAP1
-
OriGene qPCR primer pairs and template standards for NECAP1
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No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for NECAP1 Gene
Orthologs for NECAP1 Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | NECAP1 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | NECAP1 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | NECAP1 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Necap1 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Necap1 33 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | NECAP1 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | NECAP1 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | NECAP1 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | Str.17597 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | necap1 33 34 |
|
||
zgc73124 33 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000322 33 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | CG9132 33 34 |
|
||
worm (Caenorhabditis elegans) |
Secernentea | Y110A2AR.3 34 |
|
OneToMany | |
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2050 34 |
|
OneToMany |
- Species where no ortholog for NECAP1 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)
Paralogs for NECAP1 Gene
(1) SIMAP similar genes for NECAP1 Gene using alignment to 4 proteins:
Pseudogenes.org Pseudogenes for NECAP1 Gene
Variants for NECAP1 Gene
SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs137964265 | uncertain-significance, Early infantile epileptic encephalopathy 21 | 8,090,249(+) | C/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs145154841 | uncertain-significance, Early infantile epileptic encephalopathy 21 | 8,096,053(+) | A/G | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs2231752 | benign, Early infantile epileptic encephalopathy 21 | 8,093,049(+) | G/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs374365372 | uncertain-significance, Early infantile epileptic encephalopathy 21 | 8,090,266(+) | C/G/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs587777420 | conflicting-interpretations-of-pathogenicity, Early infantile epileptic encephalopathy 21 | 8,089,982(+) | C/T | coding_sequence_variant, non_coding_transcript_variant, stop_gained |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2759877 | CNV | gain+loss | 17122850 |
nsv1045521 | CNV | gain | 25217958 |
nsv428270 | CNV | gain | 18775914 |
nsv475738 | CNV | novel sequence insertion | 20440878 |
Additional Variant Information for NECAP1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NECAP1 Gene
Disorders for NECAP1 Gene
Disorder | Aliases | PubMed IDs |
---|---|---|
epileptic encephalopathy, early infantile, 21 |
|
|
undetermined early-onset epileptic encephalopathy |
|
|
infantile epileptic encephalopathy |
|
|
cataract 8, multiple types |
|
|
hypertonia |
|
|
UniProtKB/Swiss-Prot
NECP1_HUMAN- Epileptic encephalopathy, early infantile, 21 (EIEE21) [MIM:615833]: A severe disease characterized by intractable seizures, profound global developmental delay, and persistent severe axial hypotonia as well as appendicular hypertonia. {ECO:0000269 PubMed:24399846}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for NECAP1
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for NECAP1 Gene
Publications for NECAP1 Gene
- NECAP1 loss of function leads to a severe infantile epileptic encephalopathy. (PMID: 24399846) Alazami AM … Alkuraya FS (Journal of medical genetics 2014) 3 4 58
- Characterization of the localization and function of NECAP 1 in neurons. (PMID: 16879712) Murshid A … Presley JF (Journal of neurochemistry 2006) 3 22 58
- Molecular mechanisms in clathrin-mediated membrane budding revealed through subcellular proteomics. (PMID: 15494011) Ritter B … McPherson PS (Biochemical Society transactions 2004) 2 3 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
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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
- antibodies-online: Search results for 12 available NECAP1 Antibodies ranked by validation data
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- genomics-online: gRNA clones - Search results for 123 available NECAP1 gene related products
- Overview of 123 available NECAP1 gene related products
- genomics-online: primer clones - Search results for 123 available NECAP1 gene related products
- Overview of 123 available NECAP1 gene related products
- genomics-online: shRNA clones - Search results for 123 available NECAP1 gene related products
- Overview of 123 available NECAP1 gene related products
Sources for NECAP1 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