Aliases for HPD Gene
Aliases for HPD Gene
External Ids for HPD Gene
- HGNC: 5147
- Entrez Gene: 3242
- Ensembl: ENSG00000158104
- OMIM: 609695
- UniProtKB: P32754
Previous HGNC Symbols for HPD Gene
- PPD
Previous GeneCards Identifiers for HPD Gene
- GC12M121132
- GC12P121808
- GC12M122046
- GC12M120675
- GC12M120740
- GC12M122277
- GC12M119289
Summaries for HPD Gene
-
The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
GeneCards Summary for HPD Gene
HPD (4-Hydroxyphenylpyruvate Dioxygenase) is a Protein Coding gene. Diseases associated with HPD include Tyrosinemia, Type Iii and Hawkinsinuria. Among its related pathways are Tyrosine metabolism and Viral mRNA Translation. GO annotations related to this gene include oxidoreductase activity, acting on single donors with incorporation of molecular oxygen and 4-hydroxyphenylpyruvate dioxygenase activity. An important paralog of this gene is HPDL.
UniProtKB/Swiss-Prot for HPD Gene
-
Key enzyme in the degradation of tyrosine.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HPD Gene
Genomics for HPD Gene
Regulatory Elements for HPD Gene
Regulatory Element Products
Genomic Location for HPD Gene
- Chromosome:
- 12
- Start:
- 121,839,527 bp from pter
- End:
- 121,888,611 bp from pter
- Size:
- 49,085 bases
- Orientation:
- Minus strand
Genomic View for HPD Gene
- Cytogenetic band:
-
- 12q24.31 by Ensembl
- 12q24.31 by Entrez Gene
- 12q24.31 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HPD Gene
Proteins for HPD Gene
-
Protein details for HPD Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P32754-HPPD_HUMAN
- Recommended name:
- 4-hydroxyphenylpyruvate dioxygenase
- Protein Accession:
- P32754
- A8K461
- B3KQ63
- Q13234
Protein attributes for HPD Gene
- Size:
- 393 amino acids
- Molecular mass:
- 44934 Da
- Cofactor:
- Name=Fe cation; Xref=ChEBI:CHEBI:24875;
- Quaternary structure:
-
- Homodimer.
Protein Expression for HPD Gene
Selected DME Specific Peptides for HPD Gene
- P32754:
-
- GLETGSR
- FHRFWSVDD
- TYGDTTHT
- VGNAKQAA
- DHIVGNQPD
- GKKKSQI
- HGDGVKD
- KMPINEPA
- GFGAGNF
- VTFWVGNA
- AYRGLETG
- GAGVQHIAL
- LLQIFTKP
Post-translational modifications for HPD Gene
Other Protein References for HPD Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
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-
Santa Cruz Biotechnology (SCBT) Antibodies for HPD
Protein Products
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OriGene Purified Proteins for HPD
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-
Cloud-Clone Corp. Proteins for HPD
- antibodies-online Proteins for HPD: See all 29
- Search antibodies-online for peptides
- Search GeneTex for Proteins for HPD
-
ProSci Proteins for HPD
Assay Products
- antibodies-online Kits for HPD: See all 10
Domains & Families for HPD Gene
Protein Domains for HPD Gene
Suggested Antigen Peptide Sequences for HPD Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P32754- Family:
-
- Belongs to the 4HPPD family.
No data available for Gene Families for HPD Gene
Function for HPD Gene
Molecular function for HPD Gene
- GENATLAS Biochemistry:
- 4-hydroxyphenylpyruvate dioxygenase,predominantly expressed in liver,catalyzing the second step of tyrosine catabolism
- UniProtKB/Swiss-Prot CatalyticActivity:
- 4-hydroxyphenylpyruvate + O(2) = homogentisate + CO(2).
- UniProtKB/Swiss-Prot Function:
- Key enzyme in the degradation of tyrosine.
Enzyme Numbers (IUBMB) for HPD Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003868 | 4-hydroxyphenylpyruvate dioxygenase activity | ISS,EXP | -- |
| GO:0016491 | oxidoreductase activity | IEA | -- |
| GO:0016701 | oxidoreductase activity, acting on single donors with incorporation of molecular oxygen | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
| GO:0051213 | dioxygenase activity | IEA | -- |
Phenotypes for HPD Gene
- MGI mutant phenotypes for HPD:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for HPD:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased transferrin (TF) endocytosis
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Increased viability with MLN4924 (a NAE inhibitor)
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Decreased melanin production
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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ViGene Biosciences lentiviral particle packaged cDNA for HPD gene
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CRISPR Products
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miRNA Products
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Inhibitory RNA Products
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Cell Line Products
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Flow Cytometry Products
No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HPD Gene
Localization for HPD Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IBA | -- |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | IBA | -- |
| GO:0005794 | Golgi apparatus | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for HPD Gene
Pathways & Interactions for HPD Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism | ||
| 2 | Metabolism |
.37
|
|
| 3 | Tyrosine metabolism | ||
| 4 | Ubiquinol biosynthesis | ||
| 5 | Viral mRNA Translation | ||
Pathways by source for HPD Gene
1 BioSystems pathway for HPD Gene
4 KEGG pathways for HPD Gene
1 GeneGo (Thomson Reuters) pathway for HPD Gene
UniProtKB/Swiss-Prot P32754-HPPD_HUMAN
- Pathway: Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 3/6.
Interacting Proteins for HPD Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006559 | L-phenylalanine catabolic process | TAS | -- |
| GO:0006572 | tyrosine catabolic process | TAS,ISS | -- |
| GO:0009072 | aromatic amino acid family metabolic process | IEA | -- |
| GO:0055114 | oxidation-reduction process | IEA | -- |
No data available for SIGNOR curated interactions for HPD Gene
Drugs & Compounds for HPD Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Nitisinone | Approved, Investigational | Pharma | inhibitor, Target | 15 | ||
| Oxygen | Approved, Vet_approved | Pharma | 0 | |||
| Carbon dioxide | Approved, Vet_approved | Pharma | 0 | |||
| (1-Tert-Butyl-5-Hydroxy-1h-Pyrazol-4-Yl)-(6-Methanesulfonyl-4'-Methoxy-2-Methyl-Biphenyl-3-Yl)-Methanone | Experimental | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 4-Hydroxyphenylpyruvic acid |
|
156-39-8 |
|
|||
| Fe2+ |
|
15438-31-0 |
|
|||
| Homogentisic acid |
|
451-13-8 |
|
|||
| Ortho-Hydroxyphenylacetic acid |
|
614-75-5 |
|
|||
| Phenylpyruvic acid |
|
156-06-9 |
|
Transcripts for HPD Gene
mRNA/cDNA for HPD Gene
- (2) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (118) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HPD Gene
- 4-hydroxyphenylpyruvate dioxygenase:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for HPD
-
Santa Cruz Biotechnology (SCBT) CRISPR for HPD
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miRNA Products
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Inhibitory RNA Products
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-
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- Sino Biological Human cDNA Clone for HPD
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Flow Cytometry Products
Expression for HPD Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Eye (Sensory Organs)
- Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
-
Epithelial Cells
- Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
-
Kidney (Urinary System)
mRNA differential expression in normal tissues according to GTEx for HPD Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HPD Gene
NURSA nuclear receptor signaling pathways regulating expression of HPD Gene:
HPDSOURCE GeneReport for Unigene cluster for HPD Gene:
Hs.2899Evidence on tissue expression from TISSUES for HPD Gene
- Liver(4.8)
- Kidney(2.8)
Phenotype-based relationships between genes and organs from Gene ORGANizer for HPD Gene
- ectoderm
- endoderm
- mesoderm
- digestive
- integumentary
- nervous
- skeletal muscle
- brain
- cerebellum
- eye
- head
- liver
- ankle
- digit
- foot
- hand
- knee
- lower limb
- upper limb
- hair
- skin
Primer Products
-
OriGene qPCR primer pairs for HPD
-
OriGene qPCR primer pairs and template standards for HPD
No data available for mRNA Expression by UniProt/SwissProt for HPD Gene
Orthologs for HPD Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HPD 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HPD 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HPD 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hpd 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Hpd 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HPD 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | HPD 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HPD 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HPD 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hpd 34 |
|
||
| Str.8493 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68535 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hpdb 34 35 |
|
||
| zgc56326 34 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8483 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG11796 36 34 35 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004802 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | T21C12.2 36 |
|
|
|
| hpd-1 35 34 |
|
OneToOne | |||
| C31H2.4 36 |
|
|
|||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | PDS1 34 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os02g0168100 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.7220 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU01830 34 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.10805 34 |
|
- Species where no ortholog for HPD was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- 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)
- 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)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for HPD Gene
Variants for HPD Gene
| SNP ID | Clin | Chr 12 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs28934278 | Tyrosinemia 3 (TYRSN3) [MIM:276710] | ||||
| VAR_015447 | Tyrosinemia 3 (TYRSN3) [MIM:276710] | ||||
| VAR_015448 | Tyrosinemia 3 (TYRSN3) [MIM:276710] | ||||
| rs1154510 | Pathogenic | 121,857,429(-) | AGGCC(A/G)CGTCA | intron-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime | |
| rs137852865 | Pathogenic | 121,849,726(-) | TGGAT(A/G)TGAGG | reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv322e199 | CNV | deletion | 23128226 |
| dgv883n106 | CNV | deletion | 24896259 |
| esv1346224 | CNV | deletion | 17803354 |
| esv2164211 | CNV | deletion | 18987734 |
| esv2433173 | CNV | deletion | 19546169 |
| esv2746496 | CNV | deletion | 23290073 |
| esv3549898 | CNV | deletion | 23714750 |
| esv3549901 | CNV | deletion | 23714750 |
| esv3630960 | CNV | loss | 21293372 |
| esv3892268 | CNV | loss | 25118596 |
| nsv1070135 | CNV | deletion | 25765185 |
| nsv1127299 | CNV | deletion | 24896259 |
| nsv1145887 | CNV | deletion | 26484159 |
| nsv1160065 | CNV | deletion | 26073780 |
| nsv472039 | CNV | novel sequence insertion | 20440878 |
| nsv911 | CNV | deletion | 18451855 |
| nsv912 | CNV | insertion | 18451855 |
| nsv957277 | CNV | deletion | 24416366 |
Relevant External Links for HPD Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HPD Gene
Disorders for HPD Gene
(15) MalaCards diseases for HPD Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| tyrosinemia, type iii |
|
|
| hawkinsinuria |
|
|
| tyrosinemia |
|
|
| glottis squamous cell carcinoma |
|
|
| lower urinary tract calculus |
|
|
UniProtKB/Swiss-Prot
HPPD_HUMAN- Hawkinsinuria (HAWK) [MIM:140350]: An inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin, in the urine. {ECO:0000269 PubMed:11073718}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Tyrosinemia 3 (TYRSN3) [MIM:276710]: An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, seizures and mild mental retardation. {ECO:0000269 PubMed:10942115, ECO:0000269 PubMed:11073718}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genatlas disease for HPD Gene
Relevant External Links for HPD
Publications for HPD Gene
- Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. (PMID: 10942115) Rueetschi U. … Holme E. (Hum. Genet. 2000) 3 4 22 64
- Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. (PMID: 11073718) Tomoeda K. … Endo F. (Mol. Genet. Metab. 2000) 3 4 22 64
- Human 4-hydroxyphenylpyruvate dioxygenase gene (HPD). (PMID: 9325050) Ruetschi U. … Lindstedt S. (Genomics 1997) 3 4 22 64
- Regional assignment of the human 4-hydroxyphenylpyruvate dioxygenase gene (HPD) to 12q24-->qter by fluorescence in situ hybridization. (PMID: 8521727) Stenman G. … Lindstedt S. (Cytogenet. Cell Genet. 1995) 3 4 22 64
- Structure of the human 4-hydroxyphenylpyruvic acid dioxygenase gene (HPD). (PMID: 7851880) Awata H. … Matsuda I. (Genomics 1994) 3 4 22 64
Products for HPD Gene
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- GeneTex HPD antibody for HPD
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HPD 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) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer




