Aliases for APOPT1 Gene
Aliases for APOPT1 Gene
External Ids for APOPT1 Gene
- HGNC: 20492
- Entrez Gene: 84334
- Ensembl: ENSG00000256053
- OMIM: 616003
- UniProtKB: Q96IL0
Previous HGNC Symbols for APOPT1 Gene
- C14orf153
Previous GeneCards Identifiers for APOPT1 Gene
- GC14P104032
Summaries for APOPT1 Gene
-
This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
GeneCards Summary for APOPT1 Gene
APOPT1 (Apoptogenic 1, Mitochondrial) is a Protein Coding gene. Diseases associated with APOPT1 include Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy and Mitochondrial Complex Iv Deficiency.
UniProtKB/Swiss-Prot for APOPT1 Gene
-
Plays a role in the regulation of apoptosis. Mediates mitochondria-induced cell death in vascular smooth muscle cells through the release of cytochrome c from mitochondria, followed by the activation of the caspase cascade.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APOPT1 Gene
Genomics for APOPT1 Gene
Regulatory Elements for APOPT1 Gene
Regulatory Element Products
Genomic Location for APOPT1 Gene
- Chromosome:
- 14
- Start:
- 103,562,957 bp from pter
- End:
- 103,607,523 bp from pter
- Size:
- 44,567 bases
- Orientation:
- Plus strand
Genomic View for APOPT1 Gene
- Cytogenetic band:
-
- 14q32.33 by Ensembl
- 14q32.33 by Entrez Gene
- 14q32.33 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for APOPT1 Gene
Proteins for APOPT1 Gene
-
Protein details for APOPT1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96IL0-APOP1_HUMAN
- Recommended name:
- Apoptogenic protein 1, mitochondrial
- Protein Accession:
- Q96IL0
- Q53G28
Protein attributes for APOPT1 Gene
- Size:
- 206 amino acids
- Molecular mass:
- 24153 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=AAH07412.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD96812.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD96823.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Post-translational modifications for APOPT1 Gene
Other Protein References for APOPT1 Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for APOPT1
-
Abcam antibodies for APOPT1
- antibodies-online Antibodies for APOPT1: See all 2
- Search GeneTex for Antibodies for APOPT1
Protein Products
-
OriGene Purified Proteins for APOPT1
- Search Origene for MassSpec and Protein Over-expression Lysates for APOPT1
- Origene Custom Protein Services for APOPT1
- antibodies-online Proteins for APOPT1: See all 4
- Search antibodies-online for peptides
- Search GeneTex for Proteins for APOPT1
Assay Products
No data available for DME Specific Peptides for APOPT1 Gene
Domains & Families for APOPT1 Gene
Suggested Antigen Peptide Sequences for APOPT1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q96IL0- Family:
-
- Belongs to the APOPT family.
No data available for Gene Families for APOPT1 Gene
Function for APOPT1 Gene
Molecular function for APOPT1 Gene
- UniProtKB/Swiss-Prot Function:
- Plays a role in the regulation of apoptosis. Mediates mitochondria-induced cell death in vascular smooth muscle cells through the release of cytochrome c from mitochondria, followed by the activation of the caspase cascade.
Phenotypes for APOPT1 Gene
- GenomeRNAi human phenotypes for APOPT1:
Animal Model Products
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for APOPT1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for APOPT1 gene
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CRISPR Products
-
OriGene CRISPR knockouts for APOPT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for APOPT1
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miRNA for APOPT1 Gene
- miRTarBase miRNAs that target APOPT1
-
- hsa-mir-615-3p (MIRT039923)
- hsa-mir-331-3p (MIRT043520)
- hsa-mir-5582-3p (MIRT444041)
- hsa-mir-548x-3p (MIRT444042)
- hsa-mir-548j-3p (MIRT444043)
- hsa-mir-548aq-3p (MIRT444044)
- hsa-mir-548am-3p (MIRT444045)
- hsa-mir-548aj-3p (MIRT444046)
- hsa-mir-548ah-3p (MIRT444047)
- hsa-mir-548ae-3p (MIRT444048)
- hsa-mir-7150 (MIRT573434)
- hsa-mir-3692-3p (MIRT573435)
- hsa-mir-548au-3p (MIRT573436)
- hsa-mir-449b-5p (MIRT573437)
- hsa-mir-449a (MIRT573438)
- hsa-mir-34c-5p (MIRT573439)
- hsa-mir-34a-5p (MIRT573440)
- hsa-mir-2115-5p (MIRT573441)
- hsa-mir-382-3p (MIRT573442)
- hsa-mir-640 (MIRT642608)
- hsa-mir-6778-3p (MIRT642609)
- hsa-mir-150-5p (MIRT642610)
- hsa-mir-7107-5p (MIRT642611)
- hsa-mir-1234-3p (MIRT642612)
- hsa-mir-186-3p (MIRT642613)
- hsa-mir-6513-3p (MIRT642614)
- hsa-mir-8079 (MIRT642615)
- hsa-mir-1245a (MIRT642616)
- hsa-mir-4284 (MIRT661277)
- hsa-mir-4772-3p (MIRT661278)
- hsa-mir-1307-3p (MIRT661279)
- hsa-mir-4638-5p (MIRT661280)
- hsa-mir-1304-3p (MIRT661281)
- hsa-mir-6741-3p (MIRT661282)
- hsa-mir-6890-3p (MIRT661283)
- hsa-mir-4655-5p (MIRT661284)
miRNA Products
- Search ViGene Biosciences for APOPT1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for APOPT1
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-
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Clone Products
- Sino Biological Human cDNA Clone for APOPT1
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- VectorBuilder custom plasmid, inducible vectors for APOPT1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for APOPT1
-
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
Cell Line Products
-
Horizon Cell Lines for APOPT1
-
ViGene Biosciences adenoviral particle packaged cDNA for APOPT1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for APOPT1 gene
-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for APOPT1 Gene
Localization for APOPT1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for APOPT1 Gene
- Mitochondrion.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IBA | -- |
Pathways & Interactions for APOPT1 Gene
Interacting Proteins for APOPT1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006915 | apoptotic process | IEA | -- |
| GO:0034393 | positive regulation of smooth muscle cell apoptotic process | IEA | -- |
| GO:0043280 | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | IEA,IBA | -- |
| GO:0090200 | positive regulation of release of cytochrome c from mitochondria | IEA,IBA | -- |
| GO:0097193 | intrinsic apoptotic signaling pathway | IBA,IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for APOPT1 Gene
Transcripts for APOPT1 Gene
mRNA/cDNA for APOPT1 Gene
- (4) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (140) Selected AceView cDNA sequences:
- (16) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for APOPT1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for APOPT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for APOPT1
- GenScript: Design CRISPR guide RNA sequences for APOPT1
miRNA Products
- Search ViGene Biosciences for APOPT1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for APOPT1
- Browse OriGene Inhibitory RNA Products For APOPT1
-
ViGene Biosciences ready-to-package AAV shRNAs for APOPT1 gene
Clone Products
- Sino Biological Human cDNA Clone for APOPT1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for APOPT1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for APOPT1
-
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
Flow Cytometry Products
Expression for APOPT1 Gene
NURSA nuclear receptor signaling pathways regulating expression of APOPT1 Gene:
APOPT1SOURCE GeneReport for Unigene cluster for APOPT1 Gene:
Hs.598441Phenotype-based relationships between genes and organs from Gene ORGANizer for APOPT1 Gene
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- respiratory
- skeletal muscle
- urinary
- brain
- cerebrospinal fluid
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- meninges
- neck
- bronchus
- heart
- heart valve
- lung
- trachea
- kidney
- liver
- blood
- blood vessel
- coagulation system
- peripheral nervous system
- red blood cell
- skin
Primer Products
-
OriGene qPCR primer pairs for APOPT1
-
OriGene qPCR primer pairs and template standards for APOPT1
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for APOPT1 Gene
Orthologs for APOPT1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| dog (Canis familiaris) |
Mammalia | APOPT1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | APOPT1 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Apopt1 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | APOPT1 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Apopt1 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | APOPT1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | APOPT1 34 35 |
|
||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | apopt1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | apopt1 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG14806 35 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | Y39B6A.34 35 |
|
OneToOne |
- Species where no ortholog for APOPT1 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)
- chimpanzee (Pan troglodytes)
- 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)
- lizard (Anolis carolinensis)
- 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 APOPT1 Gene
(33) SIMAP similar genes for APOPT1 Gene using alignment to 7 proteins:
No data available for Paralogs for APOPT1 Gene
Variants for APOPT1 Gene
| SNP ID | Clin | Chr 14 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs587777784 | Pathogenic | 103,571,695(+) | ACCTT(C/G/T)GACCT | nc-transcript-variant, reference, stop-gained | |
| rs587777785 | Pathogenic | 103,571,622(+) | TTAAA(A/G)GTCTC | splice-acceptor-variant | |
| rs587777786 | Pathogenic | 103,571,813(+) | GACTT(C/T)TAGTA | nc-transcript-variant, reference, missense | |
| rs587777787 | Pathogenic | 103,574,116(+) | AAGAA(-/GAA)TTTAT | intron-variant, nc-transcript-variant, cds-indel | |
| rs35960830 | Likely benign | 103,571,723(+) | TGAAA(A/G)TGAAT | nc-transcript-variant, reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3635599 | CNV | gain | 21293372 |
| nsv1054574 | CNV | loss | 25217958 |
| nsv1122931 | CNV | deletion | 24896259 |
| nsv1131165 | CNV | deletion | 24896259 |
| nsv566022 | CNV | loss | 21841781 |
| nsv832883 | CNV | loss | 17160897 |
Relevant External Links for APOPT1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APOPT1 Gene
Disorders for APOPT1 Gene
(6) MalaCards diseases for APOPT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy |
|
|
| mitochondrial complex iv deficiency |
|
|
| human monocytic ehrlichiosis |
|
|
| leukodystrophy, adult-onset, autosomal dominant |
|
|
| ptosis, congenital |
|
|
Relevant External Links for APOPT1
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- APOPT1
No data available for UniProtKB/Swiss-Prot and Genatlas for APOPT1 Gene
Publications for APOPT1 Gene
- Akt activation prevents Apop-1-induced death of cells. (PMID: 18977203) Sun X. … Rakugi H. (Biochem. Biophys. Res. Commun. 2008) 2 3 64
- Apop-1, a novel protein inducing cyclophilin D-dependent but Bax/Bak-related channel-independent apoptosis. (PMID: 16782708) Yasuda O. … Ogihara T. (J. Biol. Chem. 2006) 2 3 64
- Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PMID: 16712791) Wang A.G. … Kim N.S. (Biochem. Biophys. Res. Commun. 2006) 3 4 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
Products for APOPT1 Gene
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- OriGene qPCR primer pairs and template standards for APOPT1
- OriGene qPCR primer pairs for APOPT1
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- GenScript: Design CRISPR guide RNA sequences for APOPT1
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- antibodies-online Antibodies for APOPT1: See all 2
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- antibodies-online Proteins for APOPT1: See all 4
- Search antibodies-online for peptides
- Search GeneTex for Antibodies for APOPT1
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- ViGene Biosciences adenoviral particle packaged cDNA for APOPT1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for APOPT1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for APOPT1 gene
- Search ViGene Biosciences for APOPT1
- Horizon Cell Lines for APOPT1
- Cyagen custom Knockout/knockin (KOKI) mouse models for APOPT1
- VectorBuilder custom plasmid, inducible vectors for APOPT1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for APOPT1
- 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
Sources for APOPT1 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




