Aliases for DMGDH Gene
Aliases for DMGDH Gene
External Ids for DMGDH Gene
- HGNC: 24475
- Entrez Gene: 29958
- Ensembl: ENSG00000132837
- OMIM: 605849
- UniProtKB: Q9UI17
Previous GeneCards Identifiers for DMGDH Gene
- GC05M077099
- GC05M078530
- GC05M078332
- GC05M078377
- GC05M078329
- GC05M073499
- GC05M078293
Summaries for DMGDH Gene
-
This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
GeneCards Summary for DMGDH Gene
DMGDH (Dimethylglycine Dehydrogenase) is a Protein Coding gene. Diseases associated with DMGDH include Dimethylglycine Dehydrogenase Deficiency and Sarcosinemia. Among its related pathways are Glycine, serine and threonine metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include electron transfer activity. An important paralog of this gene is SARDH.
UniProtKB/Swiss-Prot for DMGDH Gene
-
Catalyzes the demethylation of N,N-dimethylglycine to sarcosine. Also has activity with sarcosine in vitro.
Additional gene information for DMGDH Gene
- Monarch Initiative
- Search for DMGDH at DataMed
- Search for DMGDH at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DMGDH Gene
Genomics for DMGDH Gene
GeneHancer (GH) Regulatory Elements for DMGDH Gene
Promoters and enhancers for DMGDH 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH05J079069 | Promoter/Enhancer | 1.7 | EPDnew Ensembl ENCODE | 650.1 | +166.1 | 166086 | 1.5 | BRD4 SAP130 BACH1 KMT2B ZNF48 YY1 ZNF316 POLR2A EGR1 IKZF5 | BHMT2 DMGDH BHMT | |
| GH05J079234 | Promoter/Enhancer | 1.5 | Ensembl ENCODE | 662.1 | -1.0 | -1026 | 4.3 | SMAD1 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 IRF4 YY1 POLR2B | DMGDH JMY TENT2 BHMT GC05M079243 | |
| GH05J078359 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE | 4.7 | +875.3 | 875342 | 3.3 | ARNT ZFP64 ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 IRF4 YY1 | SCAMP1 SCAMP1-AS1 PIR62844 JMY RPL7P23 RPS3AP20 DMGDH PIR51536 | |
| GH05J079261 | Enhancer | 0.4 | ENCODE | 24.2 | -25.7 | -25657 | 1.2 | NANOG SCRT2 RUNX3 | DMGDH JMY GC05M079243 GC05M079285 | |
| GH05J079318 | Enhancer | 0.9 | Ensembl ENCODE | 8.6 | -83.4 | -83367 | 1.7 | HDAC1 LEF1 BACH1 CEBPG IRF9 FOSL1 CTBP1 POLR2A TRIM24 FOS | BHMT DMGDH BHMT2 LOC102724530 RPS3AP20 JMY |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around DMGDH on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the DMGDH gene promoter:
-
- Pax-5
- Tal-1beta
- ITF-2
- AML1a
- MZF-1
- Pax-2
- Pax-2a
- Pax-2b
- AREB6
- ARP-1
Regulatory Element Products
Genomic Locations for DMGDH Gene
Genomic Locations for DMGDH Gene
- chr5:78,997,564-79,236,038
- (GRCh38/hg38)
- Size:
- 238,475 bases
- Orientation:
- Minus strand
- chr5:78,293,429-78,531,861
- (GRCh37/hg19)
- Size:
- 238,433 bases
- Orientation:
- Minus strand
Genomic View for DMGDH Gene
Genes around DMGDH on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q14.1 by Entrez Gene
- 5q14.1 by HGNC
- 5q14.1 by Ensembl
DMGDH Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for DMGDH Gene
Proteins for DMGDH Gene
-
Protein details for DMGDH Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UI17-M2GD_HUMAN
- Recommended name:
- Dimethylglycine dehydrogenase, mitochondrial
- Protein Accession:
- Q9UI17
- B2RBN0
- B4E1J9
Protein attributes for DMGDH Gene
- Size:
- 866 amino acids
- Molecular mass:
- 96811 Da
- Cofactor:
- Name=FAD; Xref=ChEBI:CHEBI:57692;
- Quaternary structure:
-
- Monomer.
Protein Expression for DMGDH Gene
Post-translational modifications for DMGDH Gene
Other Protein References for DMGDH Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
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-
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No data available for DME Specific Peptides for DMGDH Gene
Domains & Families for DMGDH Gene
Gene Families for DMGDH Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for DMGDH Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for DMGDH Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9UI17- Family:
-
- Belongs to the GcvT family.
Function for DMGDH Gene
Molecular function for DMGDH Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the demethylation of N,N-dimethylglycine to sarcosine. Also has activity with sarcosine in vitro.
- UniProtKB/Swiss-Prot CatalyticActivity:
- N,N-dimethylglycine + 5,6,7,8-tetrahydrofolate + electron-transfer flavoprotein = sarcosine + 5,10-methylenetetrahydrofolate + reduced electron-transfer flavoprotein.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=1.4 mM for N,N-dimethylglycine {ECO:0000269 PubMed:27486859}; Vmax=22.1 umol/min/mg enzyme; Note=kcat is 213 min(-1) for N,N-dimethylglycine. {ECO:0000269 PubMed:27486859};
Enzyme Numbers (IUBMB) for DMGDH Gene
Phenotypes From GWAS Catalog for DMGDH Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | HDA | 22658674 |
| GO:0009055 | electron transfer activity | NAS | 10767172 |
| GO:0016491 | oxidoreductase activity | IEA,IBA | -- |
| GO:0047865 | dimethylglycine dehydrogenase activity | TAS | -- |
Phenotypes for DMGDH Gene
- MGI mutant phenotypes for DMGDH:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for DMGDH:
Animal Models for DMGDH Gene
- MGI Knock Outs for DMGDH:
-
- Dmgdh Dmgdh<tm1a(KOMP)Wtsi>
Animal Model Products
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-
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miRNA for DMGDH Gene
- miRTarBase miRNAs that target DMGDH
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- Sino Biological Human cDNA Clone for DMGDH
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Cell Line Products
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Horizon Cell Lines for DMGDH
No data available for Transcription Factor Targets and HOMER Transcription for DMGDH Gene
Localization for DMGDH Gene
Subcellular locations from UniProtKB/Swiss-Prot for DMGDH Gene
- Mitochondrion.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| cytosol | 2 |
- Mitochondria (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IBA | -- |
| GO:0005739 | mitochondrion | IDA | -- |
| GO:0005759 | mitochondrial matrix | IBA,TAS | -- |
Pathways & Interactions for DMGDH Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glycine, serine and threonine metabolism | ||
| 2 | Metabolism |
.37
|
|
| 3 | Glycerophospholipid biosynthesis | ||
Pathways by source for DMGDH Gene
2 BioSystems pathways for DMGDH Gene
5 Reactome pathways for DMGDH Gene
2 KEGG pathways for DMGDH Gene
UniProtKB/Swiss-Prot Q9UI17-M2GD_HUMAN
- Pathway: Amine and polyamine degradation; betaine degradation; sarcosine from betaine: step 2/2.
Interacting Proteins for DMGDH Gene
GPS-Prot Interaction Network for DMGDH
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006579 | amino-acid betaine catabolic process | IEA | -- |
| GO:0019695 | choline metabolic process | NAS | 10767172 |
| GO:0022900 | electron transport chain | IEA | -- |
| GO:0042426 | choline catabolic process | IMP,TAS | -- |
| GO:0055114 | oxidation-reduction process | IEA | -- |
No data available for SIGNOR curated interactions for DMGDH Gene
Drugs & Compounds for DMGDH Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| N1-acetylspermine |
|
25593-72-0 |
|
|||
| Norspermidine |
|
56-18-8 |
|
Drug Products
Transcripts for DMGDH Gene
mRNA/cDNA for DMGDH Gene
- (3) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (38) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000255189 3106 bps (uc003kfs.5)
- ENST00000523732 2777 bps (uc063evp.1)
- ENST00000518477 1966 bps (uc063evq.1)
- ENST00000517853 1517 bps (uc063evr.1)
- ENST00000523201 583 bps (uc063evs.1)
Unigene Clusters for DMGDH Gene
CRISPR Products
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Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DMGDH
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miRNA Products
Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for DMGDH
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||||||||||
| SP4: |
Expression for DMGDH Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
-
Kidney (Urinary System)
mRNA differential expression in normal tissues according to GTEx for DMGDH Gene
This gene is overexpressed in Liver (x22.1) and Kidney - Cortex (x9.3).
This gene is overexpressed in Liver, secretome (46.5) and Liver (16.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DMGDH Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of DMGDH Gene:
DMGDHSOURCE GeneReport for Unigene cluster for DMGDH Gene:
Hs.655653Evidence on tissue expression from TISSUES for DMGDH Gene
- Liver(4.6)
- Kidney(2.5)
Phenotype-based relationships between genes and organs from Gene ORGANizer for DMGDH Gene
Germ Layers:
- mesoderm
Systems:
- skeletal muscle
Primer Products
-
OriGene qPCR primer pairs for DMGDH
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt for DMGDH Gene
Orthologs for DMGDH Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | DMGDH 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | DMGDH 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | DMGDH 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Dmgdh 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Dmgdh 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | DMGDH 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | DMGDH 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | DMGDH 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | DMGDH 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | dmgdh 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | dmgdh 34 33 |
|
OneToOne | |
| Dr.5571 33 |
|
||||
| worm (Caenorhabditis elegans) |
Secernentea | Y37E3.17 34 35 33 |
|
OneToOne | |
| Y106G6H.5 35 |
|
|
- Species where no ortholog for DMGDH 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)
- fruit fly (Drosophila melanogaster)
- 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)
Evolution for DMGDH Gene
- ENSEMBL:
- Gene Tree for DMGDH (if available)
- TreeFam:
- Gene Tree for DMGDH (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for DMGDH: view image
Paralogs for DMGDH Gene
Variants for DMGDH Gene
| SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs121908331 | pathogenic, likely-pathogenic, Dimethylglycine dehydrogenase deficiency, not provided, DMGDH deficiency (DMGDHD) [MIM:605850] | 79,055,859(-) | T/C | coding_sequence_variant, intron_variant, missense_variant | |
| rs200216040 | uncertain-significance, Dimethylglycine dehydrogenase deficiency | 79,044,442(-) | G/A | coding_sequence_variant, intron_variant, non_coding_transcript_variant, stop_gained | |
| rs56774046 | likely-pathogenic, not provided | 79,069,518(-) | A/G | splice_donor_variant | |
| rs1057521498 | likely-benign, not specified | 79,051,354(-) | T/C | coding_sequence_variant, intron_variant, synonymous_variant | |
| rs1057522402 | likely-benign, not specified | 79,055,849(-) | G/A | coding_sequence_variant, intron_variant, synonymous_variant |
Residual Variation Intolerance Score:
58.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
13.75;
95.78% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for DMGDH Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DMGDH Gene
Disorders for DMGDH Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| dimethylglycine dehydrogenase deficiency |
|
|
| sarcosinemia |
|
|
Search DMGDH in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
M2GD_HUMAN- DMGDH deficiency (DMGDHD) [MIM:605850]: Disorder characterized by fish odor, muscle fatigue with increased serum creatine kinase. Biochemically it is characterized by an increase of N,N-dimethylglycine (DMG) in serum and urine. {ECO:0000269 PubMed:11231903, ECO:0000269 PubMed:27486859}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for DMGDH
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for DMGDH Gene
Publications for DMGDH Gene
- Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. (PMID: 11231903) Binzak BA … Vockley J (American journal of human genetics 2001) 2 3 4 22 58
- Structure and analysis of the human dimethylglycine dehydrogenase gene. (PMID: 10767172) Binzak BA … Vockley J (Molecular genetics and metabolism 2000) 2 3 4 22 58
- Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study. (PMID: 10102904) Moolenaar SH … Wevers RA (Clinical chemistry 1999) 3 4 22 58
- Structure and biochemical properties of recombinant human dimethylglycine dehydrogenase and comparison to the disease-related H109R variant. (PMID: 27486859) Augustin P … Macheroux P (The FEBS journal 2016) 3 4 58
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
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- Overview of 88 available DMGDH gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DMGDH
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DMGDH
- GeneCopoeia miRNA 3'UTR Target clone products for DMGDH
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DMGDH
Sources for DMGDH 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
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt