Aliases for IMMT Gene
Aliases for IMMT Gene
External Ids for IMMT Gene
- HGNC: 6047
- Entrez Gene: 10989
- Ensembl: ENSG00000132305
- OMIM: 600378
- UniProtKB: Q16891
Previous GeneCards Identifiers for IMMT Gene
- GC02M086266
- GC02M086665
- GC02M086345
- GC02M086282
Summaries for IMMT Gene
GeneCards Summary for IMMT Gene
IMMT (Inner Membrane Mitochondrial Protein) is a Protein Coding gene. Diseases associated with IMMT include Gracile Syndrome and Melanoma-Associated Retinopathy.
UniProtKB/Swiss-Prot for IMMT Gene
-
Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Plays an important role in the maintenance of the MICOS complex stability and the mitochondrial cristae morphology (PubMed:22114354, PubMed:25781180).
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IMMT Gene
Genomics for IMMT Gene
GeneHancer (GH) Regulatory Elements for IMMT Gene
Regulatory Element Products
Genomic Locations for IMMT Gene
- chr2:86,143,932-86,195,770
- (GRCh38/hg38)
- Size:
- 51,839 bases
- Orientation:
- Minus strand
- chr2:86,371,055-86,422,893
- (GRCh37/hg19)
Genomic View for IMMT Gene
- Cytogenetic band:
-
- 2p11.2 by Ensembl
- 2p11.2|2 by Entrez Gene
- 2p11.2 by HGNC


RefSeq DNA sequence for IMMT Gene
Proteins for IMMT Gene
-
Protein details for IMMT Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q16891-MIC60_HUMAN
- Recommended name:
- MICOS complex subunit MIC60
- Protein Accession:
- Q16891
- B1H0U5
- B2R5N6
- Q14539
- Q15092
- Q68D41
- Q69HW5
- Q6IBL0
- Q7Z3X1
- Q8TAJ5
- Q9P0V2
Protein attributes for IMMT Gene
- Size:
- 758 amino acids
- Molecular mass:
- 83678 Da
- Quaternary structure:
-
- Component of the mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MINOS1/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOOL/MIC27, IMMT/MIC60, APOO/MIC23/MIC26 and QIL1/MIC13 (PubMed:25764979, PubMed:25781180). This complex was also known under the names MINOS or MitOS complex. The MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1 and MTX2 (together described as components of the mitochondrial outer membrane sorting assembly machinery (SAM) complex) and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9 (PubMed:25764979, PubMed:25781180). The MICOS and SAM complexes together with DNAJC11 are part of a large protein complex spanning both membranes termed the mitochondrial intermembrane space bridging (MIB) complex (PubMed:22252321). Interacts with HSPA1A/HSPA1B and OPA1, preferentially with the soluble OPA1 form (By similarity). Interacts with QIL1/MIC13, MINOS1/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, SAMM50 and TMEM11 (PubMed:25997101). Interacts with APOO/MIC23/MIC26 and APOOL/MIC27 (PubMed:25764979, PubMed:25781180).
- SequenceCaution:
-
- Sequence=CAH18389.1; Type=Erroneous termination; Positions=759; Note=Translated as stop.; Evidence={ECO:0000305};
Protein Expression for IMMT Gene
Post-translational modifications for IMMT Gene
- Ubiquitination at isoforms=2, 3, 4102, posLast=110110, and posLast=451451
Other Protein References for IMMT Gene
Antibody Products
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Protein Products
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Assay Products
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No data available for DME Specific Peptides for IMMT Gene
Domains & Families for IMMT Gene
Gene Families for IMMT Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for IMMT Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for IMMT Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q16891- Family:
-
- Belongs to the MICOS complex subunit Mic60 family.
Function for IMMT Gene
Molecular function for IMMT Gene
- UniProtKB/Swiss-Prot Function:
- Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Plays an important role in the maintenance of the MICOS complex stability and the mitochondrial cristae morphology (PubMed:22114354, PubMed:25781180).
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | HDA | 22658674 |
GO:0005515 | protein binding | IPI | 16169070 |
Phenotypes for IMMT Gene
- GenomeRNAi human phenotypes for IMMT:
Animal Model Products
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miRNA for IMMT Gene
- miRTarBase miRNAs that target IMMT
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Inhibitory RNA Products
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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
- genomics-online: cdna clones - Search results for available IMMT gene related products
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- Applied Biological Materials Clones for IMMT
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
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No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for IMMT Gene
Localization for IMMT Gene
Subcellular locations from UniProtKB/Swiss-Prot for IMMT Gene
- Mitochondrion inner membrane; Single-pass membrane protein. Mitochondrion.
- Mitochondria (4)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IDA,IEA | 25781180 |
GO:0005743 | mitochondrial inner membrane | IEA,IDA | 9168817 |
GO:0016020 | membrane | HDA,IEA | 19946888 |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0043209 | myelin sheath | IEA | -- |
Pathways & Interactions for IMMT Gene
Interacting Proteins for IMMT Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0042407 | cristae formation | IMP | 25781180 |
GO:0051560 | mitochondrial calcium ion homeostasis | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for IMMT Gene
Transcripts for IMMT Gene
mRNA/cDNA for IMMT Gene
- (9) REFSEQ mRNAs :
- (23) Additional mRNA sequences :
- (566) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for IMMT Gene
CRISPR Products
-
OriGene CRISPR knockouts for IMMT
- genomics-online: gRNA clones - Search results for available IMMT gene related products
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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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Clone Products
-
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- VectorBuilder custom plasmid, inducible vectors for IMMT
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for IMMT
-
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 IMMT gene related products
- orf clones - Search results for available IMMT gene related products
- Applied Biological Materials Clones for IMMT
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | · | 8d | · | 8e | · | 8f | ^ | 9 | ^ | 10a | · | 10b | · | 10c | · | 10d | ^ | 11 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP15: | - | - | - |
ExUns: | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||
SP2: | |||||||||||||||
SP3: | |||||||||||||||
SP4: | |||||||||||||||
SP5: | |||||||||||||||
SP6: | - | ||||||||||||||
SP7: | |||||||||||||||
SP8: | |||||||||||||||
SP9: | |||||||||||||||
SP10: | |||||||||||||||
SP11: | |||||||||||||||
SP12: | |||||||||||||||
SP13: | |||||||||||||||
SP14: | |||||||||||||||
SP15: |
Expression for IMMT Gene
mRNA differential expression in normal tissues according to GTEx for IMMT Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for IMMT Gene
NURSA nuclear receptor signaling pathways regulating expression of IMMT Gene:
IMMTSOURCE GeneReport for Unigene cluster for IMMT Gene:
Hs.148559Evidence on tissue expression from TISSUES for IMMT Gene
- Nervous system(5)
- Liver(4.7)
- Intestine(4.5)
- Muscle(4.5)
- Kidney(3.7)
- Lung(3.3)
- Skin(3.3)
- Blood(2.8)
- Heart(2.6)
- Eye(2.1)
Primer Products
-
OriGene qPCR primer pairs and template standards for IMMT
-
OriGene qPCR primer pairs for IMMT
- genomics-online: primer clones - Search results for available IMMT gene related products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for IMMT Gene
Orthologs for IMMT Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | IMMT 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | IMMT 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | IMMT 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Immt 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Immt 33 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | IMMT 34 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | IMMT 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | IMMT 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | IMMT 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | immt 33 |
|
||
Str.11537 33 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.8878 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | immt 33 34 |
|
||
wufd16e04 33 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | CG6455 33 34 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002364 33 |
|
||
worm (Caenorhabditis elegans) |
Secernentea | immt-1 33 34 |
|
||
T14G11.3 35 |
|
|
|||
W06H3.1 35 |
|
|
|||
immt-2 34 |
|
OneToMany | |||
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.5015 34 |
|
OneToOne |
- Species where no ortholog for IMMT 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)
- 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 IMMT Gene
Pseudogenes.org Pseudogenes for IMMT Gene
No data available for Paralogs for IMMT Gene
Variants for IMMT Gene
SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000118306 | -- | 86,168,503(-) | G/C | intron_variant | |
rs1000142664 | -- | 86,155,116(-) | G/T | intron_variant | |
rs1000178117 | -- | 86,174,260(-) | T/A | intron_variant | |
rs1000277265 | -- | 86,161,450(-) | G/A | intron_variant | |
rs1000367639 | -- | 86,175,491(-) | A/G | intron_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3885n100 | CNV | gain | 25217958 |
dgv6946n54 | CNV | gain | 21841781 |
dgv712e214 | CNV | gain | 21293372 |
dgv713e214 | CNV | gain | 21293372 |
esv2720300 | CNV | deletion | 23290073 |
esv2751903 | CNV | gain | 17911159 |
esv3591540 | CNV | gain | 21293372 |
esv3591543 | CNV | loss | 21293372 |
esv3591544 | CNV | loss | 21293372 |
esv3591545 | CNV | gain | 21293372 |
nsv458563 | CNV | gain | 19166990 |
nsv458574 | CNV | gain | 19166990 |
nsv582372 | CNV | gain | 21841781 |
Additional Variant Information for IMMT Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IMMT Gene
Disorders for IMMT Gene
Disorder | Aliases | PubMed IDs |
---|---|---|
gracile syndrome |
|
|
melanoma-associated retinopathy |
|
|
paraneoplastic syndromes |
|
|
anemia, nonspherocytic hemolytic, due to g6pd deficiency |
|
|
ornithosis |
|
|
Additional Disease Information for IMMT
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for IMMT Gene
Publications for IMMT Gene
- Mitofilin is a transmembrane protein of the inner mitochondrial membrane expressed as two isoforms. (PMID: 9168817) Gieffers C … Frey J (Experimental cell research 1997) 2 3 4 22 58
- A novel human gene that is preferentially transcribed in heart muscle. (PMID: 8039717) Icho T … Tsuchida N (Gene 1994) 2 3 4 58
- The non-glycosylated isoform of MIC26 is a constituent of the mammalian MICOS complex and promotes formation of crista junctions. (PMID: 25764979) Koob S … Reichert AS (Biochimica et biophysica acta 2015) 3 4 58
- Detailed analysis of the human mitochondrial contact site complex indicate a hierarchy of subunits. (PMID: 25781180) Ott C … Kozjak-Pavlovic V (PloS one 2015) 3 4 58
- QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology. (PMID: 25997101) Guarani V … Harper JW (eLife 2015) 3 4 58
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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
- antibodies-online: Search results for available IMMT related products ranked by validation data
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- orf clones - Search results for available IMMT gene related products
- genomics-online: gRNA clones - Search results for available IMMT gene related products
- genomics-online: primer clones - Search results for available IMMT gene related products
- genomics-online: shRNA clones - Search results for available IMMT gene related products
Sources for IMMT 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