Aliases for FAM20A Gene
Aliases for FAM20A Gene
External Ids for FAM20A Gene
- HGNC: 23015
- Entrez Gene: 54757
- Ensembl: ENSG00000108950
- OMIM: 611062
- UniProtKB: Q96MK3
Previous GeneCards Identifiers for FAM20A Gene
- GC17M066995
- GC17M067130
- GC17M064044
- GC17M066533
- GC17M061916
Summaries for FAM20A Gene
-
This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]
GeneCards Summary for FAM20A Gene
FAM20A (FAM20A, Golgi Associated Secretory Pathway Pseudokinase) is a Protein Coding gene. Diseases associated with FAM20A include Amelogenesis Imperfecta, Type Ig and Amelogenesis Imperfecta Hypoplastic Type, Ig. An important paralog of this gene is FAM20C.
UniProtKB/Swiss-Prot for FAM20A Gene
-
Pseudokinase that acts as an allosteric activator of the Golgi serine/threonine protein kinase FAM20C and is involved in biomineralization of teeth. Forms a complex with FAM20C and increases the ability of FAM20C to phosphorylate the proteins that form the matrix that guides the deposition of the enamel minerals.
Additional gene information for FAM20A Gene
- Monarch Initiative
- Search for FAM20A at DataMed
- Search for FAM20A at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM20A Gene
Genomics for FAM20A Gene
GeneHancer (GH) Regulatory Elements for FAM20A 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 |
---|---|---|---|---|---|---|---|---|---|---|
GH17I068597 | Promoter/Enhancer | 2.4 | EPDnew FANTOM5 Ensembl ENCODE | 565.8 | +0.6 | 576 | 6.5 | FOXA2 ARID4B ZNF48 YY1 GLIS2 SP3 RXRA SP5 MXD4 REST | FAM20A LINC01482 | |
GH17I068579 | Enhancer | 1.4 | FANTOM5 Ensembl ENCODE | 22.5 | +21.1 | 21103 | 2.1 | FOXA2 ARID4B YY1 RXRA REST PPARG KAT8 NFIL3 MIER3 RCOR2 | FAM20A ENSG00000267731 ENSG00000265100 LINC01482 PIR47466 LOC105371873 | |
GH17I068566 | Enhancer | 0.7 | ENCODE | 31.5 | +34.2 | 34173 | 1.2 | FOXA2 CEBPG RAD21 HNF4G HOMEZ GATAD2A RXRA FOXA3 HLF CEBPB | FAM20A LOC105371873 PIR47466 | |
GH17I068584 | Enhancer | 0.8 | ENCODE | 19.4 | +16.1 | 16137 | 1.7 | ELF3 FOXA2 MLX ARID4B DMAP1 RAD21 RARA YY1 CREM MIXL1 | FAM20A PIR47466 LINC01482 | |
GH17I068613 | Enhancer | 0.8 | ENCODE | 12.1 | -12.8 | -12840 | 0.8 | ELF3 FOXA2 ARID4B SIN3A DMAP1 DNMT3B ZNF48 ZSCAN9 RAD21 YY1 | FAM20A GC17P068620 LINC01482 |
Regulatory Element Products
Genomic Locations for FAM20A Gene
- chr17:68,534,561-68,601,389
- (GRCh38/hg38)
- Size:
- 66,829 bases
- Orientation:
- Minus strand
- chr17:66,531,254-66,597,530
- (GRCh37/hg19)
Genomic View for FAM20A Gene
- Cytogenetic band:
-
- 17q24.2 by Ensembl
- 17q24.2 by Entrez Gene
- 17q24.2 by HGNC


RefSeq DNA sequence for FAM20A Gene
Proteins for FAM20A Gene
-
Protein details for FAM20A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96MK3-FA20A_HUMAN
- Recommended name:
- Pseudokinase FAM20A
- Protein Accession:
- Q96MK3
- B2RN47
- B2RN49
- Q9UF95
Protein attributes for FAM20A Gene
- Size:
- 541 amino acids
- Molecular mass:
- 61417 Da
- Quaternary structure:
-
- Interacts with FAM20C; probably forming a heterotetramer of 2 subunits of FAM20A and 2 subunits of FAM20C.
Protein Expression for FAM20A Gene
Post-translational modifications for FAM20A Gene
- N-glycosylated.
- Glycosylation at posLast=7070, Asn145, Asn287, Asn388, and posLast=538538
Other Protein References for FAM20A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
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No data available for DME Specific Peptides for FAM20A Gene
Domains & Families for FAM20A Gene
Gene Families for FAM20A Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for FAM20A Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for FAM20A Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q96MK3- Family:
-
- Belongs to the FAM20 family.
Function for FAM20A Gene
Molecular function for FAM20A Gene
- UniProtKB/Swiss-Prot Function:
- Pseudokinase that acts as an allosteric activator of the Golgi serine/threonine protein kinase FAM20C and is involved in biomineralization of teeth. Forms a complex with FAM20C and increases the ability of FAM20C to phosphorylate the proteins that form the matrix that guides the deposition of the enamel minerals.
Phenotypes From GWAS Catalog for FAM20A Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004674 | NOT protein serine/threonine kinase activity | IDA | 25789606 |
GO:0005515 | protein binding | IPI | 25789606 |
GO:0043539 | protein serine/threonine kinase activator activity | IDA | 25789606 |
Phenotypes for FAM20A Gene
- MGI mutant phenotypes for FAM20A:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for FAM20A:
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-
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- Mammalian expression: PiggyBac
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- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for FAM20A Gene
Localization for FAM20A Gene
Subcellular locations from UniProtKB/Swiss-Prot for FAM20A Gene
- Secreted. Golgi apparatus. Endoplasmic reticulum.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005615 | extracellular space | IDA,IEA | 22582013 |
GO:0005623 | cell | IEA,ISS | -- |
GO:0005783 | endoplasmic reticulum | ISS | -- |
GO:0005794 | colocalizes_with Golgi apparatus | IDA,IEA | 22582013 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for FAM20A Gene
Pathways & Interactions for FAM20A Gene
Interacting Proteins for FAM20A Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001934 | positive regulation of protein phosphorylation | ISS | -- |
GO:0031214 | biomineral tissue development | IMP | 25789606 |
GO:0044691 | tooth eruption | IMP | 21990045 |
GO:0055074 | calcium ion homeostasis | IMP | 23434854 |
GO:0070166 | enamel mineralization | IEA,IMP | 21549343 |
No data available for Pathways by source and SIGNOR curated interactions for FAM20A Gene
Transcripts for FAM20A Gene
mRNA/cDNA for FAM20A Gene
- (5) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (102) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FAM20A Gene
- Family with sequence similarity 20, member A:
- Representative Sequences:
CRISPR 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 FAM20A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||
SP2: |
Expression for FAM20A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Bone (Muscoskeletal System)
-
Limb (Muscoskeletal System)
- Apical Ectodermal Ridge Cells Limb Ectoderm
-
Ectoderm (Gastrulation Derivatives)
- Apical Ectodermal Ridge Cells Limb Ectoderm
- Neural Crest (Gastrulation Derivatives)
mRNA differential expression in normal tissues according to GTEx for FAM20A Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FAM20A Gene
NURSA nuclear receptor signaling pathways regulating expression of FAM20A Gene:
FAM20ASOURCE GeneReport for Unigene cluster for FAM20A Gene:
Hs.268874mRNA Expression by UniProt/SwissProt for FAM20A Gene:
Q96MK3-FA20A_HUMANEvidence on tissue expression from TISSUES for FAM20A Gene
- Liver(4.3)
- Nervous system(4.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM20A Gene
- ectoderm
- endoderm
- mesoderm
- digestive
- integumentary
- nervous
- skeleton
- urinary
- brain
- head
- jaw
- mandible
- maxilla
- mouth
- pituitary gland
- skull
- tooth
- kidney
- ureter
- urinary bladder
- peripheral nerve
- peripheral nervous system
- skin
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Orthologs for FAM20A Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | FAM20A 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | FAM20A 33 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Fam20a 33 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | FAM20A 34 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Fam20a 33 16 34 |
|
||
cow (Bos Taurus) |
Mammalia | FAM20A 33 34 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | FAM20A 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | FAM20A 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | FAM20A 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | fam20a 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | FAM20A (2 of 2) 34 |
|
OneToMany | |
fam20a 33 34 |
|
||||
Dr.22208 33 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | CG31145 34 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | H03A11.1 34 |
|
OneToMany |
- Species where no ortholog for FAM20A 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 squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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 FAM20A Gene
(4) SIMAP similar genes for FAM20A Gene using alignment to 4 proteins:
Variants for FAM20A Gene
SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs139620139 | pathogenic, Enamel-renal syndrome | 68,537,671(-) | G/A/C/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant, stop_gained, synonymous_variant | |
rs144411158 | pathogenic, Enamel-renal syndrome | 68,555,742(-) | G/A/T | 5_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, stop_gained, synonymous_variant | |
rs146689929 | likely-benign, Acrodysostosis, Carney complex | 68,537,592(-) | G/A | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
rs377432171 | Amelogenesis imperfecta 1G (AI1G) [MIM:204690] | 68,540,861(-) | C/T | coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
rs387907215 | pathogenic, Enamel-renal syndrome | 68,542,796(-) | G/A | coding_sequence_variant, non_coding_transcript_variant, stop_gained |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2661984 | CNV | deletion | 23128226 |
esv2677068 | CNV | deletion | 23128226 |
esv2716148 | CNV | deletion | 23290073 |
esv3554698 | CNV | deletion | 23714750 |
esv3641113 | CNV | loss | 21293372 |
esv3641114 | CNV | loss | 21293372 |
nsv1127594 | CNV | deletion | 24896259 |
nsv476931 | CNV | novel sequence insertion | 20440878 |
nsv477917 | CNV | novel sequence insertion | 20440878 |
nsv507856 | OTHER | sequence alteration | 20534489 |
nsv510723 | CNV | deletion | 20534489 |
nsv522126 | CNV | loss | 19592680 |
nsv833524 | CNV | gain | 17160897 |
Additional Variant Information for FAM20A Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM20A Gene
Disorders for FAM20A Gene

(11) MalaCards diseases for FAM20A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
amelogenesis imperfecta, type ig |
|
|
amelogenesis imperfecta hypoplastic type, ig |
|
|
amelogenesis imperfecta-gingival hyperplasia syndrome |
|
|
amelogenesis imperfecta |
|
|
hypercementosis |
|
|
UniProtKB/Swiss-Prot
FA20A_HUMAN- Amelogenesis imperfecta 1G (AI1G) [MIM:204690]: A disorder characterized by dental anomalies, gingival overgrowth, and nephrocalcinosis. Dental anomalies include hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies and unerupted teeth. {ECO:0000269 PubMed:21549343, ECO:0000269 PubMed:21990045, ECO:0000269 PubMed:23434854, ECO:0000269 PubMed:23468644, ECO:0000269 PubMed:23697977, ECO:0000269 PubMed:24196488, ECO:0000269 PubMed:24259279, ECO:0000269 PubMed:24756937, ECO:0000269 PubMed:25636655, ECO:0000269 PubMed:25789606, ECO:0000269 PubMed:25827751}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for FAM20A
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for FAM20A Gene
Publications for FAM20A Gene
- FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells. (PMID: 15676076) Nalbant D … Williams SC (BMC genomics 2005) 3 4 22 58
- A secretory kinase complex regulates extracellular protein phosphorylation. (PMID: 25789606) Cui J … Dixon JE (eLife 2015) 3 4 58
- FAM20A mutations associated with enamel renal syndrome. (PMID: 24196488) Wang SK … Hu JC (Journal of dental research 2014) 3 4 58
- Enamel-renal-gingival syndrome and FAM20A mutations. (PMID: 24259279) Kantaputra PN … Iamaroon A (American journal of medical genetics. Part A 2014) 3 4 58
- FAM20A mutations can cause enamel-renal syndrome (ERS). (PMID: 23468644) Wang SK … Hu JC (PLoS genetics 2013) 3 4 58
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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- Overview of 81 available FAM20A gene related products
- genomics-online: primer clones - Search results for 81 available FAM20A gene related products
- Overview of 81 available FAM20A gene related products
- genomics-online: shRNA clones - Search results for 81 available FAM20A gene related products
- Overview of 81 available FAM20A gene related products
Sources for FAM20A 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