Aliases for EFEMP1 Gene
Aliases for EFEMP1 Gene
External Ids for EFEMP1 Gene
- HGNC: 3218
- Entrez Gene: 2202
- Ensembl: ENSG00000115380
- OMIM: 601548
- UniProtKB: Q12805
Previous HGNC Symbols for EFEMP1 Gene
- DHRD
- FBNL
Previous GeneCards Identifiers for EFEMP1 Gene
- GC02M056130
- GC02M056279
- GC02M056067
- GC02M056004
- GC02M056093
Summaries for EFEMP1 Gene
-
This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]
GeneCards Summary for EFEMP1 Gene
EFEMP1 (EGF Containing Fibulin Extracellular Matrix Protein 1) is a Protein Coding gene. Diseases associated with EFEMP1 include Doyne Honeycomb Retinal Dystrophy and Familial Drusen. Among its related pathways are Integrin Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding and epidermal growth factor receptor binding. An important paralog of this gene is EFEMP2.
UniProtKB/Swiss-Prot for EFEMP1 Gene
-
Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth.
Additional gene information for EFEMP1 Gene
- Monarch Initiative
- Search for EFEMP1 at DataMed
- Search for EFEMP1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFEMP1 Gene
Genomics for EFEMP1 Gene
GeneHancer (GH) Regulatory Elements for EFEMP1 Gene
Regulatory Element Products
Genomic Locations for EFEMP1 Gene
- chr2:55,865,962-55,924,163
- (GRCh38/hg38)
- Size:
- 58,202 bases
- Orientation:
- Minus strand
- chr2:56,093,097-56,151,298
- (GRCh37/hg19)
Genomic View for EFEMP1 Gene
- Cytogenetic band:
-
- 2p16.1 by Ensembl
- 2p16.1 by Entrez Gene
- 2p16.1 by HGNC


RefSeq DNA sequence for EFEMP1 Gene
Proteins for EFEMP1 Gene
-
Protein details for EFEMP1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q12805-FBLN3_HUMAN
- Recommended name:
- EGF-containing fibulin-like extracellular matrix protein 1
- Protein Accession:
- Q12805
- A8K3I4
- B4DW75
- D6W5D2
- Q541U7
Protein attributes for EFEMP1 Gene
- Size:
- 493 amino acids
- Molecular mass:
- 54641 Da
- Quaternary structure:
-
- Interacts with ECM1. Interacts with TIMP3.
- Miscellaneous:
-
- Up-regulated in malignant gliomas. May increase glioma cell adhesiveness and invasive properties.
Protein Expression for EFEMP1 Gene
Post-translational modifications for EFEMP1 Gene
- Glycosylation at Asn249
Other Protein References for EFEMP1 Gene
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Protein Products
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Assay Products
No data available for DME Specific Peptides for EFEMP1 Gene
Domains & Families for EFEMP1 Gene
Gene Families for EFEMP1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for EFEMP1 Gene
Suggested Antigen Peptide Sequences for EFEMP1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q12805- Family:
-
- Belongs to the fibulin family.
Function for EFEMP1 Gene
Molecular function for EFEMP1 Gene
- GENATLAS Biochemistry:
- EGF-containing fibrillin-like extracellular matrix protein 1,expressed in retina and retina pigment epithelium,overexpressed in senescent or quiescent fibroblasts
- UniProtKB/Swiss-Prot Function:
- Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth.
Phenotypes From GWAS Catalog for EFEMP1 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005006 | epidermal growth factor-activated receptor activity | IDA | 19804359 |
GO:0005154 | epidermal growth factor receptor binding | IDA | 19804359 |
GO:0005509 | calcium ion binding | IEA | -- |
GO:0005515 | protein binding | IPI | 12620389 |
GO:0008083 | growth factor activity | IEA | -- |
Phenotypes for EFEMP1 Gene
- MGI mutant phenotypes for EFEMP1:
-
inferred from 5 alleles
- normal phenotype
- homeostasis/metabolism phenotype
- muscle phenotype
- cardiovascular system phenotype
- mortality/aging
- immune system phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- integument phenotype
- hematopoietic system phenotype
- skeleton phenotype
- pigmentation phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for EFEMP1:
Animal Models for EFEMP1 Gene
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miRNA for EFEMP1 Gene
- miRTarBase miRNAs that target EFEMP1
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No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for EFEMP1 Gene
Localization for EFEMP1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for EFEMP1 Gene
- Secreted, extracellular space. Secreted, extracellular space, extracellular matrix. Note=Localizes to the lamina propria underneath the olfactory epithelium. {ECO:0000250}.
- Mitochondria (1)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IDA,TAS | -- |
GO:0005578 | proteinaceous extracellular matrix | TAS,IEA | -- |
GO:0005615 | extracellular space | IEA,IDA | 20005202 |
GO:0031012 | colocalizes_with extracellular matrix | IEA,IDA | 20551380 |
GO:0070062 | extracellular exosome | HDA,IDA | 23376485 |
Pathways & Interactions for EFEMP1 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Integrin Pathway |
.67
.67
.56
|
.56
|
2 | ERK Signaling |
.61
.58
|
.49
|
3 | Phospholipase-C Pathway |
.56
|
|
4 | Elastic fibre formation | ||
5 | Degradation of the extracellular matrix |
Pathways by source for EFEMP1 Gene
3 Reactome pathways for EFEMP1 Gene
13 Qiagen pathways for EFEMP1 Gene
Interacting Proteins for EFEMP1 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IDA | 20005202 |
GO:0007173 | epidermal growth factor receptor signaling pathway | IDA,IEA | 19804359 |
GO:0007601 | visual perception | TAS | 10369267 |
GO:0010469 | regulation of receptor activity | IEA | -- |
GO:0018108 | peptidyl-tyrosine phosphorylation | IDA | 19804359 |
No data available for SIGNOR curated interactions for EFEMP1 Gene
Transcripts for EFEMP1 Gene
mRNA/cDNA for EFEMP1 Gene
- (5) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (447) Selected AceView cDNA sequences:
- (14) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for EFEMP1 Gene
- EGF containing fibulin-like extracellular matrix protein 1:
- Representative Sequences:
CRISPR Products
-
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP9: | - |
Expression for EFEMP1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- Metanephric Mesenchyme Cells Metanephric Mesenchyme
- Renal Collecting Duct System
- S-shaped Body
-
Eye (Sensory Organs)
- GABAergic Amacrine Cells Inner Nuclear Layer
- Retina
- Brain (Nervous System)
- Endothelium (Cardiovascular System)
-
Neurons
- GABAergic Amacrine Cells Inner Nuclear Layer
-
Epidermis (Integumentary System)
- Basal Keratinocytes Embryonic Epidermis
-
Epithelial Cells
- Basal Keratinocytes Embryonic Epidermis
-
Hair
- Basal Keratinocytes Embryonic Epidermis
- Bone (Muscoskeletal System)
- Adipose (Muscoskeletal System)
- Dermis (Integumentary System)
- Fibroblasts
- NULL (Uncategorized)
- Neural Tube (Nervous System)
-
Umbilical Cord (Extraembryonic Tissues)
-
Uterus (Reproductive System)
-
Colon (Gastrointestinal Tract)
-
Prostate (Endocrine System)
-
Placenta (Extraembryonic Tissues)
-
Smooth Muscle (Muscoskeletal System)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Adrenal Gland (Endocrine System)
-
Esophagus (Gastrointestinal Tract)
-
Ovary (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for EFEMP1 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EFEMP1 Gene
NURSA nuclear receptor signaling pathways regulating expression of EFEMP1 Gene:
EFEMP1SOURCE GeneReport for Unigene cluster for EFEMP1 Gene:
Hs.76224mRNA Expression by UniProt/SwissProt for EFEMP1 Gene:
Q12805-FBLN3_HUMANEvidence on tissue expression from TISSUES for EFEMP1 Gene
- Lung(4.8)
- Nervous system(4.5)
- Skin(4.4)
- Liver(4.2)
- Eye(3.1)
- Heart(2.9)
- Gall bladder(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for EFEMP1 Gene
- ectoderm
- nervous
- brain
- cranial nerve
- eye
- head
- peripheral nervous system
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Orthologs for EFEMP1 Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | EFEMP1 34 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | EFEMP1 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | EFEMP1 33 34 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | EFEMP1 34 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | EFEMP1 34 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Efemp1 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Efemp1 33 |
|
||
chicken (Gallus gallus) |
Aves | EFEMP1 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | EFEMP1 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | efemp1 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | EFEMP1 (1 of 2) 34 |
|
OneToMany | |
LOC100332567 33 |
|
||||
EFEMP1 (2 of 2) 34 |
|
OneToMany | |||
fruit fly (Drosophila melanogaster) |
Insecta | CG31999 34 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | fbl-1 34 |
|
OneToMany | |
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for EFEMP1 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)
- 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)
- 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 EFEMP1 Gene
Paralogs for EFEMP1 Gene
(19) SIMAP similar genes for EFEMP1 Gene using alignment to 10 proteins:
Variants for EFEMP1 Gene
SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs10167115 | benign, Doyne honeycomb retinal dystrophy | 55,923,714(-) | T/C | 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant | |
rs1020033479 | uncertain-significance, Doyne honeycomb retinal dystrophy | 55,923,913(-) | C/G | 5_prime_UTR_variant, coding_sequence_variant, missense_variant | |
rs1045075413 | uncertain-significance, Doyne honeycomb retinal dystrophy | 55,866,127(-) | A/G | 3_prime_UTR_variant | |
rs111619737 | benign, Doyne honeycomb retinal dystrophy | 55,924,030(-) | C/G/T | 5_prime_UTR_variant, coding_sequence_variant, missense_variant | |
rs112334283 | benign, Doyne honeycomb retinal dystrophy | 55,866,010(-) | C/T | 3_prime_UTR_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3307790 | CNV | mobile element insertion | 20981092 |
esv3392665 | CNV | insertion | 20981092 |
esv3575244 | CNV | gain | 25503493 |
esv3583831 | CNV | loss | 25503493 |
esv3892437 | CNV | loss | 25118596 |
nsv2736 | CNV | insertion | 18451855 |
nsv819764 | CNV | loss | 19587683 |
Additional Variant Information for EFEMP1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFEMP1 Gene
Disorders for EFEMP1 Gene

(11) MalaCards diseases for EFEMP1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
doyne honeycomb retinal dystrophy |
|
|
familial drusen |
|
|
pleural cancer |
|
|
macular degeneration, age-related, 1 |
|
|
retinal drusen |
|
|
UniProtKB/Swiss-Prot
FBLN3_HUMAN- Doyne honeycomb retinal dystrophy (DHRD) [MIM:126600]: Autosomal dominant disease characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium. {ECO:0000269 PubMed:10369267, ECO:0000269 PubMed:11384588, ECO:0000269 PubMed:12242346, ECO:0000269 PubMed:17666404}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for EFEMP1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for EFEMP1 Gene
Publications for EFEMP1 Gene
- EFEMP1 is not associated with sporadic early onset drusen. (PMID: 11262647) Sauer CG … Weber BH (Ophthalmic genetics 2001) 3 4 22 44 58
- Structure and chromosomal assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrillin. (PMID: 8812496) Ikegawa S … Nakamura Y (Genomics 1996) 2 3 4 22 58
- ECM1 interacts with fibulin-3 and the beta 3 chain of laminin 332 through its serum albumin subdomain-like 2 domain. (PMID: 19275936) Sercu S … Merregaert J (Matrix biology : journal of the International Society for Matrix Biology 2009) 3 4 22 58
- EFEMP1 binds the EGF receptor and activates MAPK and Akt pathways in pancreatic carcinoma cells. (PMID: 19804359) Camaj P … Bruns CJ (Biological chemistry 2009) 3 4 22 58
- Fibulin-3 is uniquely upregulated in malignant gliomas and promotes tumor cell motility and invasion. (PMID: 19887559) Hu B … Viapiano MS (Molecular cancer research : MCR 2009) 3 4 22 58
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- Compare Top FBLN3 Antibodies
- antibodies-online: Search results for 20 available FBLN3 Elisa Kits ranked by validation data
- Compare Top FBLN3 Elisa Kits
- Recommended
- antibodies-online: Search results for 14 available FBLN3 Proteins ranked by validation data
- Compare Top FBLN3 Proteins
- GeneTex EFEMP1 antibody for EFEMP1
- Search GeneTex for Proteins for EFEMP1
- ViGene Biosciences adenoviral particle packaged cDNA for EFEMP1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for EFEMP1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for EFEMP1 gene
- Search ViGene Biosciences for EFEMP1
- Santa Cruz Biotechnology (SCBT) Antibodies for EFEMP1
- Search Santa Cruz Biotechnology (SCBT) for EFEMP1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for EFEMP1
- Custom Antibody ServicesProSci Antibodies for EFEMP1
- Search for EFEMP1 Proteins at ProSci
- Horizon Cell Lines for EFEMP1
- genomics-online: cdna clones - Search results for available FBLN3 gene related products
- orf clones - Search results for available FBLN3 gene related products
- genomics-online: gRNA clones - Search results for available FBLN3 gene related products
- genomics-online: primer clones - Search results for available FBLN3 gene related products
- genomics-online: shRNA clones - Search results for available FBLN3 gene related products
Sources for EFEMP1 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