Aliases for MFRP Gene
Aliases for MFRP Gene
External Ids for MFRP Gene
- HGNC: 18121
- Entrez Gene: 83552
- Ensembl: ENSG00000235718
- OMIM: 606227
- UniProtKB: Q9BY79
Previous GeneCards Identifiers for MFRP Gene
- GC11M121209
- GC11M120722
- GC11M119244
- GC11M118749
- GC11M118714
- GC11M115150
- GC11M119218
Summaries for MFRP Gene
-
This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 2013]
GeneCards Summary for MFRP Gene
MFRP (Membrane Frizzled-Related Protein) is a Protein Coding gene. Diseases associated with MFRP include Microphthalmia, Isolated 5 and Nanophthalmos 2. Among its related pathways are MAPK Signaling: Mitogen Stimulation Pathway. An important paralog of this gene is CUBN.
UniProtKB/Swiss-Prot for MFRP Gene
-
May play a role in eye development.
Additional gene information for MFRP Gene
- Monarch Initiative
- Search for MFRP at DataMed
- Search for MFRP at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MFRP Gene
Genomics for MFRP Gene
GeneHancer (GH) Regulatory Elements for MFRP Gene
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH11I119346 | Enhancer | 0.5 | ENCODE | 550.8 | -0.8 | -764 | 1.1 | NFIL3 HLF IKZF1 ZFP36 ZMYM3 EZH2 ZKSCAN1 | C1QTNF5 MFRP RNF26 USP2 GC11M119369 | |
GH11I119347 | Promoter | 0.5 | EPDnew | 550.8 | +0.0 | 36 | 0.1 | C1QTNF5 MFRP ENSG00000245385 | ||
GH11I119374 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE dbSUPER | 11.8 | -30.3 | -30341 | 5.5 | PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF143 SP5 NFYC | USP2 THY1 MFRP C1QTNF5 ENSG00000254740 | |
GH11I119366 | Enhancer | 1.6 | FANTOM5 Ensembl ENCODE dbSUPER | 12.3 | -22.9 | -22896 | 6.4 | HDGF PKNOX1 SMAD1 FOXA2 ARID4B DMAP1 YY1 FOS SP5 MXD4 | THY1 C1QTNF5 ABCG4 MFRP USP2 NLRX1 H2AFX GC11M119369 ENSG00000254740 | |
GH11I119481 | Enhancer | 1.2 | Ensembl ENCODE | 11.2 | -134.9 | -134874 | 1.1 | CLOCK FOXA2 MLX ARID4B SIN3A ZNF48 SLC30A9 ARID2 ZNF207 ZNF143 | C1QTNF5 MFRP THY1 GC11P119503 GC11P119452 USP2-AS1 |
Regulatory Element Products
Genomic Locations for MFRP Gene
- chr11:119,338,934-119,346,673
- (GRCh38/hg38)
- Size:
- 7,740 bases
- Orientation:
- Minus strand
- chr11:119,209,652-119,217,383
- (GRCh37/hg19)
Genomic View for MFRP Gene
- Cytogenetic band:
-
- 11q23.3 by Ensembl
- 11q23.3 by Entrez Gene
- 11q23.3 by HGNC


RefSeq DNA sequence for MFRP Gene
Proteins for MFRP Gene
-
Protein details for MFRP Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BY79-MFRP_HUMAN
- Recommended name:
- Membrane frizzled-related protein
- Protein Accession:
- Q9BY79
- B0YJ36
- B0YJ37
- B4DHN8
- Q335M3
- Q96DQ9
Protein attributes for MFRP Gene
- Size:
- 579 amino acids
- Molecular mass:
- 62212 Da
- Quaternary structure:
-
- Interacts with C1QTNF5.
- Miscellaneous:
-
- This protein is produced by a bicistronic gene which also produces the C1QTNF5 protein from a non-overlapping reading frame.
Post-translational modifications for MFRP Gene
- Glycosylation at posLast=227227 and posLast=415415
Other Protein References for MFRP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
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Protein Products
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No data available for DME Specific Peptides for MFRP Gene
Domains & Families for MFRP Gene
Gene Families for MFRP Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for MFRP Gene
Suggested Antigen Peptide Sequences for MFRP Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for MFRP Gene
Function for MFRP Gene
Molecular function for MFRP Gene
- UniProtKB/Swiss-Prot Function:
- May play a role in eye development.
Phenotypes From GWAS Catalog for MFRP Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
Phenotypes for MFRP Gene
- MGI mutant phenotypes for MFRP:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for MFRP:
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-
-
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miRNA for MFRP Gene
- miRTarBase miRNAs that target MFRP
-
- hsa-mir-6769b-5p (MIRT473273)
- hsa-mir-6763-5p (MIRT473274)
- hsa-mir-3150a-3p (MIRT473275)
- hsa-mir-491-5p (MIRT473276)
- hsa-mir-6766-5p (MIRT473277)
- hsa-mir-92a-2-5p (MIRT473278)
- hsa-mir-6756-5p (MIRT473279)
- hsa-mir-608 (MIRT473280)
- hsa-mir-4651 (MIRT473281)
- hsa-mir-7110-5p (MIRT473282)
- hsa-mir-6842-5p (MIRT473283)
- hsa-mir-6752-5p (MIRT473284)
- hsa-mir-6825-5p (MIRT473285)
- hsa-mir-939-5p (MIRT473286)
- hsa-mir-3175 (MIRT473287)
- hsa-mir-1343-5p (MIRT473288)
- hsa-mir-7106-5p (MIRT473289)
- hsa-mir-6894-5p (MIRT473290)
- hsa-mir-6081 (MIRT473291)
- hsa-mir-4722-5p (MIRT473292)
- hsa-mir-6732-5p (MIRT473293)
- hsa-mir-4459 (MIRT473294)
- hsa-mir-4661-3p (MIRT473295)
- hsa-mir-4779 (MIRT473296)
- hsa-mir-6165 (MIRT473297)
- hsa-mir-6773-5p (MIRT715900)
- hsa-mir-6724-5p (MIRT715901)
- hsa-mir-654-5p (MIRT715902)
- hsa-mir-541-3p (MIRT715903)
- hsa-mir-4281 (MIRT715904)
- hsa-mir-296-5p (MIRT715905)
- hsa-mir-3621 (MIRT715906)
- hsa-mir-6845-3p (MIRT715907)
- hsa-mir-6786-5p (MIRT715908)
- hsa-mir-7108-3p (MIRT715909)
- hsa-mir-4258 (MIRT715910)
miRNA Products
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-
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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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-
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No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MFRP Gene
Localization for MFRP Gene
Subcellular locations from UniProtKB/Swiss-Prot for MFRP Gene
- Apical cell membrane; Single-pass type II membrane protein.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | TAS | 11263980 |
GO:0016324 | apical plasma membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for MFRP Gene
Pathways & Interactions for MFRP Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | MAPK Signaling: Mitogen Stimulation Pathway |
Pathways by source for MFRP Gene
1 R&D Systems pathway for MFRP Gene
Interacting Proteins for MFRP Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007601 | visual perception | IEA | -- |
GO:0009790 | embryo development | NAS | 11263980 |
GO:0042462 | eye photoreceptor cell development | IEA | -- |
GO:0060041 | retina development in camera-type eye | IEA | -- |
No data available for SIGNOR curated interactions for MFRP Gene
Transcripts for MFRP Gene
mRNA/cDNA for MFRP Gene
- (1) REFSEQ mRNAs :
- (96) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
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-
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Clone Products
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-
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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
- Applied Biological Materials Clones for MFRP
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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Expression for MFRP Gene
NURSA nuclear receptor signaling pathways regulating expression of MFRP Gene:
MFRPmRNA Expression by UniProt/SwissProt for MFRP Gene:
Q9BY79-MFRP_HUMANEvidence on tissue expression from TISSUES for MFRP Gene
- Nervous system(4.4)
- Eye(2.9)
Phenotype-based relationships between genes and organs from Gene ORGANizer for MFRP Gene
- ectoderm
- mesoderm
- immune
- integumentary
- nervous
- skeletal muscle
- brain
- cranial nerve
- eye
- head
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs for MFRP
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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 differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for MFRP Gene
Orthologs for MFRP Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | MFRP 33 |
|
||
-- 34 |
|
OneToMany | |||
cow (Bos Taurus) |
Mammalia | MFRP 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | MFRP 33 |
|
||
mouse (Mus musculus) |
Mammalia | Mfrp 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Mfrp 33 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
ManyToMany | |
-- 34 |
|
ManyToMany | |||
chicken (Gallus gallus) |
Aves | MFRP 33 |
|
||
lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
zebrafish (Danio rerio) |
Actinopterygii | LOC101885305 33 |
|
||
MFRP 34 |
|
OneToMany | |||
fruit fly (Drosophila melanogaster) |
Insecta | CG32702 34 |
|
ManyToMany | |
CG42255 34 |
|
ManyToMany | |||
worm (Caenorhabditis elegans) |
Secernentea | ZC116.3 34 |
|
OneToMany | |
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
ManyToMany |
- Species where no ortholog for MFRP 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
Paralogs for MFRP Gene
Variants for MFRP Gene
SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1032711467 | uncertain-significance, Retinal degeneration | 119,341,370(-) | G/A | 3_prime_UTR_variant | |
rs111033578 | conflicting-interpretations-of-pathogenicity, Late-onset retinal degeneration | 119,339,574(-) | G/C | 3_prime_UTR_variant | |
rs11217241 | benign, likely-benign, not specified, Retinal degeneration, Microphthalmia, isolated 6 | 119,342,593(-) | C/A/T | intron_variant | |
rs121908189 | pathogenic, Nanophthalmos 2, Microphthalmia, isolated 5 | 119,345,538(-) | G/A | coding_sequence_variant, stop_gained | |
rs121908190 | pathogenic, Nanophthalmos 2, Nanophthalmos 2 (NNO2) [MIM:609549] | 119,345,516(-) | A/G | coding_sequence_variant, missense_variant |
Additional Variant Information for MFRP Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFRP Gene
Disorders for MFRP Gene

(39) MalaCards diseases for MFRP Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
microphthalmia, isolated 5 |
|
|
nanophthalmos 2 |
|
|
microphthalmia |
|
|
optic disk drusen |
|
|
primary angle-closure glaucoma |
|
|
UniProtKB/Swiss-Prot
MFRP_HUMAN- Microphthalmia, isolated, 5 (MCOP5) [MIM:611040]: A disorder characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis and optic disk drusen. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. {ECO:0000269 PubMed:17167404}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Nanophthalmos 2 (NNO2) [MIM:609549]: Rare autosomal recessive disorder of eye development characterized by extreme hyperopia and small functional eyes. {ECO:0000269 PubMed:15976030}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for MFRP
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for MFRP Gene
Publications for MFRP Gene
- Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type Frizzled-related protein. (PMID: 11263980) Katoh M (Biochemical and biophysical research communications 2001) 2 3 4 22 58
- Evaluation of MFRP as a candidate gene for high hyperopia. (PMID: 19169412) Wang P … Zhang Q (Molecular vision 2009) 3 22 44 58
- Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia. (PMID: 18334955) Metlapally R … Young TL (Molecular vision 2008) 3 22 44 58
- Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes. (PMID: 18648522) Aung T … Vithana EN (Molecular vision 2008) 3 22 44 58
- A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. (PMID: 17167404) Ayala-Ramirez R … Zenteno JC (Molecular vision 2006) 3 4 22 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
- antibodies-online: Search results for 22 available MFRP Antibodies ranked by validation data
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- genomics-online: primer clones - Search results for 87 available MFRP gene related products
- Overview of 87 available MFRP gene related products
- genomics-online: shRNA clones - Search results for 87 available MFRP gene related products
- Overview of 87 available MFRP gene related products
Sources for MFRP 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