Aliases for AMPD1 Gene
Aliases for AMPD1 Gene
External Ids for AMPD1 Gene
- HGNC: 468
- Entrez Gene: 270
- Ensembl: ENSG00000116748
- OMIM: 102770
- UniProtKB: P23109
Previous GeneCards Identifiers for AMPD1 Gene
- GC01M115629
- GC01M114097
- GC01M114315
- GC01M114514
- GC01M114927
- GC01M115215
- GC01M113074
Summaries for AMPD1 Gene
-
Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
GeneCards Summary for AMPD1 Gene
AMPD1 (Adenosine Monophosphate Deaminase 1) is a Protein Coding gene. Diseases associated with AMPD1 include Myopathy Due To Myoadenylate Deaminase Deficiency and Adenosine Monophosphate Deaminase 1 Deficiency. Among its related pathways are Metabolism and Pyrimidine metabolism (KEGG). Gene Ontology (GO) annotations related to this gene include deaminase activity and AMP deaminase activity. An important paralog of this gene is AMPD3.
UniProtKB/Swiss-Prot for AMPD1 Gene
-
AMP deaminase plays a critical role in energy metabolism.
Additional gene information for AMPD1 Gene
- Monarch Initiative
- Search for AMPD1 at DataMed
- Search for AMPD1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AMPD1 Gene
Genomics for AMPD1 Gene
GeneHancer (GH) Regulatory Elements for AMPD1 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 |
---|---|---|---|---|---|---|---|---|---|---|
GH01I114695 | Promoter/Enhancer | 1.1 | EPDnew ENCODE dbSUPER | 550.8 | -0.1 | -81 | 0.6 | ZSCAN4 RUNX3 | AMPD1 DENND2C RN7SL432P GC01M114679 | |
GH01I114693 | Enhancer | 0.4 | dbSUPER | 561.5 | +1.6 | 1588 | 0.6 | RNF2 SMARCA4 | AMPD1 DENND2C GC01M114679 | |
GH01I114694 | Enhancer | 0.4 | dbSUPER | 550.8 | +1.0 | 981 | 0.6 | RNF2 SMARCA4 PRDM1 | AMPD1 DENND2C GC01M114679 | |
GH01I114667 | Promoter/Enhancer | 2.2 | EPDnew Ensembl ENCODE dbSUPER | 14.3 | +25.8 | 25795 | 3.7 | PKNOX1 ATF1 FOXA2 ARID4B ZNF2 BRCA1 ZNF48 YY1 ZNF121 GLIS2 | DENND2C AMPD1 TRIM33 TSPAN2 ENSG00000228035 LOC105378914 | |
GH01I114580 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE | 14 | +114.1 | 114072 | 2.4 | PKNOX1 FOXA2 ARNT ARID4B DMAP1 ZNF2 YY1 POLR2B ZNF766 CBX5 | BCAS2 LOC105378914 TRIM33 AMPD1 DENND2C RSBN1 LOC105378913 |
Regulatory Element Products
Genomic Locations for AMPD1 Gene
- chr1:114,673,090-114,695,618
- (GRCh38/hg38)
- Size:
- 22,529 bases
- Orientation:
- Minus strand
- chr1:115,215,719-115,238,239
- (GRCh37/hg19)
Genomic View for AMPD1 Gene
- Cytogenetic band:
-
- 1p13.2 by Ensembl
- 1p13.2 by Entrez Gene
- 1p13.2 by HGNC


RefSeq DNA sequence for AMPD1 Gene
Proteins for AMPD1 Gene
-
Protein details for AMPD1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P23109-AMPD1_HUMAN
- Recommended name:
- AMP deaminase 1
- Protein Accession:
- P23109
- A8K5N4
- B2RAM1
- F2Z3B3
- Q5TF00
- Q5TF02
Protein attributes for AMPD1 Gene
- Size:
- 780 amino acids
- Molecular mass:
- 90219 Da
- Cofactor:
- Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
- Quaternary structure:
-
- Homotetramer.
- SequenceCaution:
-
- Sequence=AAA57281.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAG24258.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAF84038.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG36918.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAI18828.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for AMPD1 Gene
Selected DME Specific Peptides for AMPD1 Gene
- P23109:
-
- RPHCGEAG
- DADRVVY
- PHRDFYN
- DNYINGEY
Post-translational modifications for AMPD1 Gene
Other Protein References for AMPD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
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Assay Products
Domains & Families for AMPD1 Gene
Gene Families for AMPD1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted secreted proteins
Protein Domains for AMPD1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for AMPD1 Gene
Graphical View of Domain Structure for InterPro Entry
P23109UniProtKB/Swiss-Prot:
AMPD1_HUMAN :- Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family.
- Family:
-
- Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family.
Function for AMPD1 Gene
Molecular function for AMPD1 Gene
- GENATLAS Biochemistry:
- adenosine monophosphate deaminase 1 (isoform M,skeletal muscle),adenine nucleotide catabolic pathway,purine nucleotide cycle
- UniProtKB/Swiss-Prot CatalyticActivity:
- AMP + H(2)O = IMP + NH(3).
- UniProtKB/Swiss-Prot Function:
- AMP deaminase plays a critical role in energy metabolism.
Enzyme Numbers (IUBMB) for AMPD1 Gene
Phenotypes From GWAS Catalog for AMPD1 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003876 | AMP deaminase activity | EXP | 1429593 |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0019239 | deaminase activity | IEA | -- |
GO:0032036 | myosin heavy chain binding | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for AMPD1 Gene
- MGI mutant phenotypes for AMPD1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for AMPD1:
Animal Models for AMPD1 Gene
- MGI Knock Outs for AMPD1:
-
- Ampd1 tm1b(KOMP)Wtsi
Animal Model Products
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miRNA for AMPD1 Gene
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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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Cell Line Products
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No data available for Transcription Factor Targets and HOMER Transcription for AMPD1 Gene
Localization for AMPD1 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for AMPD1 Gene
Pathways & Interactions for AMPD1 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Purine metabolism |
.01
|
|
2 | Metabolism |
.37
|
|
3 | Pyrimidine metabolism (KEGG) | ||
4 | Immune response Function of MEF2 in T lymphocytes |
Pathways by source for AMPD1 Gene
4 Reactome pathways for AMPD1 Gene
2 KEGG pathways for AMPD1 Gene
2 GeneGo (Thomson Reuters) pathways for AMPD1 Gene
UniProtKB/Swiss-Prot P23109-AMPD1_HUMAN
- Pathway: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1.
Interacting Proteins for AMPD1 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0009117 | nucleotide metabolic process | IEA | -- |
GO:0009168 | purine ribonucleoside monophosphate biosynthetic process | IEA | -- |
GO:0010033 | response to organic substance | IEA | -- |
GO:0032264 | IMP salvage | IEA | -- |
GO:0043101 | purine-containing compound salvage | TAS | -- |
No data available for SIGNOR curated interactions for AMPD1 Gene
Drugs & Compounds for AMPD1 Gene
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Adenosine monophosphate | Approved, Investigational | Nutra | Enzyme, substrate | 0 | ||
Methotrexate | Approved | Pharma | Folate antagonist,inhibits DFHR | 1603 | ||
Regadenoson | Approved, Investigational | Pharma | Agonist | Highly selective and low affinity A2A adenosine agonist | 75 | |
Cladribine | Approved, Investigational | Pharma | Apoptosis inducer in CLL cells | 81 | ||
Ammonia | Approved | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
(1) ApexBio Compounds for AMPD1 Gene
Compound | Action | Cas Number |
---|---|---|
Cladribine | Apoptosis inducer in CLL cells | 4291-63-8 |
Transcripts for AMPD1 Gene
mRNA/cDNA for AMPD1 Gene
- (2) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (358) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for AMPD1 Gene
CRISPR Products
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Vectors and viruses for KO, Activation, Repression, and more
-
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-
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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
- genomics-online: cdna clones - Search results for available AMPD1 gene related products
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- Applied Biological Materials Clones for AMPD1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for AMPD1 Gene
mRNA differential expression in normal tissues according to GTEx for AMPD1 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for AMPD1 Gene
NURSA nuclear receptor signaling pathways regulating expression of AMPD1 Gene:
AMPD1SOURCE GeneReport for Unigene cluster for AMPD1 Gene:
Hs.89570Evidence on tissue expression from TISSUES for AMPD1 Gene
- Muscle(3.8)
- Heart(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for AMPD1 Gene
- ectoderm
- mesoderm
- nervous
- skeletal muscle
- brain
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for AMPD1
- genomics-online: primer clones - Search results for available AMPD1 gene related products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for AMPD1 Gene
Orthologs for AMPD1 Gene
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | AMPD1 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | AMPD1 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | AMPD1 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Ampd1 33 16 34 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | AMPD1 34 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Ampd1 33 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | AMPD1 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | AMPD1 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | AMPD1 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | ampd1 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | ampd1 33 34 |
|
||
-- 33 |
|
||||
worm (Caenorhabditis elegans) |
Secernentea | C34F11.3b 35 |
|
|
|
C34F11.3a 35 |
|
|
|||
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | AMD1 34 |
|
OneToMany | |
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for AMPD1 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)
- 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 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 AMPD1 Gene
(2) SIMAP similar genes for AMPD1 Gene using alignment to 11 proteins:
Variants for AMPD1 Gene
SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs121912682 | conflicting-interpretations-of-pathogenicity, uncertain-significance, Muscle AMP deaminase deficiency, not specified, Myopathy due to myoadenylate deaminase deficiency (MMDD) [MIM:615511] | 114,677,465(-) | C/G/T | coding_sequence_variant, missense_variant | |
rs12566550 | uncertain-significance, Muscle AMP deaminase deficiency | 114,686,903(-) | G/A | coding_sequence_variant, missense_variant | |
rs139512772 | uncertain-significance, Muscle AMP deaminase deficiency | 114,688,673(-) | G/A | coding_sequence_variant, missense_variant | |
rs139582106 | likely-pathogenic, Muscle AMP deaminase deficiency, not provided | 114,684,278(-) | C/A | coding_sequence_variant, missense_variant | |
rs140176911 | benign, uncertain-significance, not specified, Muscle AMP deaminase deficiency | 114,677,902(-) | C/T | intron_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv28734 | CNV | loss | 19812545 |
esv3587269 | CNV | loss | 21293372 |
esv3587274 | CNV | loss | 21293372 |
Additional Variant Information for AMPD1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMPD1 Gene
Disorders for AMPD1 Gene

(8) MalaCards diseases for AMPD1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
myopathy due to myoadenylate deaminase deficiency |
|
|
adenosine monophosphate deaminase 1 deficiency |
|
|
glycogen storage disease v |
|
|
myopathy |
|
|
myopathy, myofibrillar, 4 |
|
|
UniProtKB/Swiss-Prot
AMPD1_HUMAN- Myopathy due to myoadenylate deaminase deficiency (MMDD) [MIM:615511]: A metabolic disorder resulting in exercise-related myopathy. It is characterized by exercise-induced muscle aches, cramps, and early fatigue. {ECO:0000269 PubMed:11102975}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genatlas disease for AMPD1 Gene
Additional Disease Information for AMPD1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Publications for AMPD1 Gene
- Does the polygenic profile determine the potential for becoming a world-class athlete? Insights from the sport of rowing. (PMID: 19422651) Santiago C … Lucia A (Scandinavian journal of medicine & science in sports 2010) 3 22 44 58
- Associations of polymorphisms of eight muscle- or metabolism-related genes with performance in Mount Olympus marathon runners. (PMID: 20044476) Tsianos GI … Ioannidis JP (Journal of applied physiology (Bethesda, Md. : 1985) 2010) 3 22 44 58
- Association of C34T AMPD1 gene polymorphism with features of metabolic syndrome in patients with coronary artery disease or heart failure. (PMID: 18855224) Safranow K … Chlubek D (Scandinavian journal of clinical and laboratory investigation 2009) 3 22 44 58
- Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases. (PMID: 19353846) Teijeira S … Navarro C (Clinical neuropathology 2009) 3 22 44 58
- Effect of adenosine monophosphate deaminase-1 C34T allele on the requirement for donor inotropic support and on the incidence of early graft dysfunction after cardiac transplantation. (PMID: 19427446) Taegtmeyer AB … Barton PJ (The American journal of cardiology 2009) 3 22 44 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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- ViGene Biosciences lentiviral particle packaged cDNA for AMPD1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for AMPD1 gene
- Search ViGene Biosciences for AMPD1
- Santa Cruz Biotechnology (SCBT) Antibodies for AMPD1
- Search Santa Cruz Biotechnology (SCBT) for AMPD1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for AMPD1
- Horizon Cell Lines for AMPD1
- genomics-online: cdna clones - Search results for available AMPD1 gene related products
- orf clones - Search results for available AMPD1 gene related products
- genomics-online: gRNA clones - Search results for available AMPD1 gene related products
- genomics-online: primer clones - Search results for available AMPD1 gene related products
- genomics-online: shRNA clones - Search results for available AMPD1 gene related products
Sources for AMPD1 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