Aliases for SLC6A20 Gene
Aliases for SLC6A20 Gene
External Ids for SLC6A20 Gene
- HGNC: 30927
- Entrez Gene: 54716
- Ensembl: ENSG00000163817
- OMIM: 605616
- UniProtKB: Q9NP91
Previous GeneCards Identifiers for SLC6A20 Gene
- GC03M045758
- GC03M045771
Summaries for SLC6A20 Gene
-
Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene is a member of the subgroup of transporter with unidentified substrates within the Na+ and Cl- coupled transporter family. This gene is expressed in kidney, and its alternative splicing generates 2 transcript variants. [provided by RefSeq, Jul 2008]
GeneCards Summary for SLC6A20 Gene
SLC6A20 (Solute Carrier Family 6 Member 20) is a Protein Coding gene. Diseases associated with SLC6A20 include Iminoglycinuria and Hyperglycinuria. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Amino acid transport across the plasma membrane. Gene Ontology (GO) annotations related to this gene include amino acid transmembrane transporter activity and neurotransmitter:sodium symporter activity. An important paralog of this gene is SLC6A18.
UniProtKB/Swiss-Prot for SLC6A20 Gene
-
Mediates the calcium-dependent uptake of imino acids such as L-proline, N-methyl-L-proline and pipecolate as well as N-methylated amino acids. Involved in the transport of glycine.
Additional gene information for SLC6A20 Gene
- Monarch Initiative
- Search for SLC6A20 at DataMed
- Search for SLC6A20 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC6A20 Gene
Genomics for SLC6A20 Gene
GeneHancer (GH) Regulatory Elements for SLC6A20 Gene
- Top Transcription factor binding sites by QIAGEN in the SLC6A20 gene promoter:
Regulatory Element Products
Genomic Locations for SLC6A20 Gene
- chr3:45,755,449-45,796,561
- (GRCh38/hg38)
- Size:
- 41,113 bases
- Orientation:
- Minus strand
- chr3:45,796,941-45,838,035
- (GRCh37/hg19)
Genomic View for SLC6A20 Gene
- Cytogenetic band:
-
- 3p21.31 by Ensembl
- 3p21.31 by Entrez Gene
- 3p21.31 by HGNC


RefSeq DNA sequence for SLC6A20 Gene
Proteins for SLC6A20 Gene
-
Protein details for SLC6A20 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NP91-S6A20_HUMAN
- Recommended name:
- Sodium- and chloride-dependent transporter XTRP3
- Protein Accession:
- Q9NP91
- A1A4F2
- O75590
- Q8TF10
- Q9NPQ2
- Q9NQ77
Protein attributes for SLC6A20 Gene
- Size:
- 592 amino acids
- Molecular mass:
- 65914 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=AAL75944.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for SLC6A20 Gene
Post-translational modifications for SLC6A20 Gene
- Glycosylation at posLast=131131 and posLast=357357
Other Protein References for SLC6A20 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for SLC6A20
- Invitrogen Antibodies for SLC6A20
- antibodies-online: Search results for 4 available SLC6A20 Antibodies ranked by validation data
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-
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Protein Products
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-
Abcam proteins for SLC6A20
Assay Products
No data available for DME Specific Peptides for SLC6A20 Gene
Domains & Families for SLC6A20 Gene
Gene Families for SLC6A20 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Potential drug targets
- Predicted membrane proteins
- Transporters
Protein Domains for SLC6A20 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SLC6A20 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9NP91UniProtKB/Swiss-Prot:
S6A20_HUMAN :- Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A20 subfamily.
- Family:
-
- Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A20 subfamily.
Function for SLC6A20 Gene
Molecular function for SLC6A20 Gene
- UniProtKB/Swiss-Prot Function:
- Mediates the calcium-dependent uptake of imino acids such as L-proline, N-methyl-L-proline and pipecolate as well as N-methylated amino acids. Involved in the transport of glycine.
Phenotypes From GWAS Catalog for SLC6A20 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005328 | neurotransmitter:sodium symporter activity | IEA | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0015171 | amino acid transmembrane transporter activity | IEA,TAS | -- |
GO:0015193 | L-proline transmembrane transporter activity | IEA | -- |
GO:0015293 | symporter activity | IEA | -- |
Phenotypes for SLC6A20 Gene
- GenomeRNAi human phenotypes for SLC6A20:
Animal Model Products
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miRNA for SLC6A20 Gene
- miRTarBase miRNAs that target SLC6A20
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-
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
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- Yeast expression
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-
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Cell Line Products
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No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC6A20 Gene
Localization for SLC6A20 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SLC6A20 Gene
- Apical cell membrane; Multi-pass membrane protein. Note=Located in the apical brush border membrane of kidney proximal tubule cells. {ECO:0000250}.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IEA,IBA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0016324 | apical plasma membrane | ISS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC6A20 Gene
Pathways & Interactions for SLC6A20 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds |
.37
|
|
2 | Amino acid transport across the plasma membrane | ||
3 | NRF2 pathway |
Pathways by source for SLC6A20 Gene
1 BioSystems pathway for SLC6A20 Gene
6 Reactome pathways for SLC6A20 Gene
Interacting Proteins for SLC6A20 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006810 | transport | IEA | -- |
GO:0006836 | neurotransmitter transport | IEA | -- |
GO:0006865 | amino acid transport | TAS | -- |
GO:0015816 | glycine transport | IMP | 19033659 |
GO:0015824 | proline transport | IMP | 19033659 |
No data available for SIGNOR curated interactions for SLC6A20 Gene
Drugs & Compounds for SLC6A20 Gene
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
calcium | Approved | Nutra | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
sodium |
|
7440-23-5 |
|
Transcripts for SLC6A20 Gene
mRNA/cDNA for SLC6A20 Gene
- (4) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (53) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SLC6A20 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SLC6A20
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-
Vectors and viruses for KO, Activation, Repression, and more
-
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miRNA Products
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Inhibitory RNA Products
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ViGene Biosciences ready-to-package AAV shRNAs for SLC6A20 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
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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 SLC6A20
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||
SP3: |
Expression for SLC6A20 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Mature Endothelial Cells Blood Brain Barrier
- Endothelial Cells Blood Brain Barrier
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
- Endothelial Cells Blood Brain Barrier
-
Kidney (Urinary System)
- Proximal Tubule Cells Proximal Tubule
-
Epithelial Cells
- Proximal Tubule Cells Proximal Tubule
-
Colon (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for SLC6A20 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC6A20 Gene
NURSA nuclear receptor signaling pathways regulating expression of SLC6A20 Gene:
SLC6A20SOURCE GeneReport for Unigene cluster for SLC6A20 Gene:
Hs.413095mRNA Expression by UniProt/SwissProt for SLC6A20 Gene:
Q9NP91-S6A20_HUMANEvidence on tissue expression from TISSUES for SLC6A20 Gene
- Intestine(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC6A20 Gene
- ectoderm
- mesoderm
- nervous
- urinary
- brain
- eye
- head
- kidney
- ureter
Primer Products
-
OriGene qPCR primer pairs for SLC6A20
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Orthologs for SLC6A20 Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | SLC6A20 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | SLC6A20 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | SLC6A20 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Slc6a20a 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Slc6a20 33 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | SLC6A20 34 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | SLC6A20 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | SLC6A20 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | SLC6A20 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100497079 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | SLC6A20 34 |
|
OneToMany | |
fruit fly (Drosophila melanogaster) |
Insecta | ine 34 |
|
OneToOne | |
worm (Caenorhabditis elegans) |
Secernentea | snf-10 34 |
|
OneToOne | |
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany | |
-- 34 |
|
OneToMany |
- Species where no ortholog for SLC6A20 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 SLC6A20 Gene
(21) SIMAP similar genes for SLC6A20 Gene using alignment to 3 proteins:
Variants for SLC6A20 Gene
SNP ID | Clin | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1006705338 | uncertain-significance, Hyperglycinuria | 45,758,061(-) | C/T | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
rs1013173157 | uncertain-significance, Hyperglycinuria | 45,796,518(-) | G/C | 5_prime_UTR_variant, genic_upstream_transcript_variant | |
rs1016732744 | uncertain-significance, Hyperglycinuria | 45,758,334(-) | G/A | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
rs1032895519 | uncertain-significance, Hyperglycinuria | 45,757,376(-) | G/A/C/T | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
rs115438130 | likely-benign, Hyperglycinuria | 45,756,331(-) | A/G | 3_prime_UTR_variant, genic_downstream_transcript_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv293e215 | CNV | deletion | 23714750 |
esv1614687 | CNV | deletion | 17803354 |
esv2192183 | CNV | deletion | 18987734 |
esv2670527 | CNV | deletion | 23128226 |
esv2725225 | CNV | deletion | 23290073 |
esv2725226 | CNV | deletion | 23290073 |
esv3033190 | CNV | deletion | 24192839 |
esv3365430 | CNV | insertion | 20981092 |
nsv1127955 | CNV | deletion | 24896259 |
nsv834678 | CNV | gain | 17160897 |
Additional Variant Information for SLC6A20 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A20 Gene
Disorders for SLC6A20 Gene
Disorder | Aliases | PubMed IDs |
---|---|---|
iminoglycinuria |
|
|
hyperglycinuria |
|
|
hartnup disorder |
|
|
UniProtKB/Swiss-Prot
S6A20_HUMAN- Hyperglycinuria (HG) [MIM:138500]: A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones. {ECO:0000269 PubMed:19033659}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Iminoglycinuria (IG) [MIM:242600]: A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine. {ECO:0000269 PubMed:19033659}. Note=The disease is caused by mutations affecting the gene represented in this entry. Haploinsufficiency of SLC6A20 combined with deficiency of the neutral amino acid transporter SLC6A19 or partially inactivating mutations in SLC36A2, is responsible for iminoglycinuria. Additional polymorphisms and mutations in SLC6A18 can contribute to the IG phenotype in some families.
Additional Disease Information for SLC6A20
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SLC6A20 Gene
Publications for SLC6A20 Gene
- Identification of mammalian proline transporter SIT1 (SLC6A20) with characteristics of classical system imino. (PMID: 15632147) Takanaga H … Hediger MA (The Journal of biological chemistry 2005) 3 4 22 58
- The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3. (PMID: 11352561) Kiss H … Dumanski JP (Genomics 2001) 2 3 4 58
- Cloning, gene structure and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms. (PMID: 9932288) Nash SR … Caron MG (Receptors & channels 1998) 2 3 4 58
- A genome-wide association study of metabolic traits in human urine. (PMID: 21572414) Suhre K … Nauck M (Nature genetics 2011) 3 44 58
- Sodium translocation by the iminoglycinuria associated imino transporter (SLC6A20). (PMID: 19657969) Bröer A … Bröer S (Molecular membrane biology 2009) 3 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 4 available SLC6A20 Antibodies ranked by validation data
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- genomics-online: primer clones - Search results for 72 available SLC6A20 gene related products
- Overview of 72 available SLC6A20 gene related products
- genomics-online: shRNA clones - Search results for 72 available SLC6A20 gene related products
- Overview of 72 available SLC6A20 gene related products
Sources for SLC6A20 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