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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for TBC1D7

check button Gene summary
Gene informationGene symbol

TBC1D7

Gene ID

51256

Gene nameTBC1 domain family member 7
SynonymsMGCPH|PIG51|TBC7
Cytomap

6p24.1

Type of geneprotein-coding
DescriptionTBC1 domain family member 7TS complex subunit 3cell migration-inducing protein 23
Modification date20200313
UniProtAcc

A0A024QZX0,

A0A024R011,

B4DK47,

Q5SZL3,

Q5SZL4,

Q5SZL5,

Q5SZL6,

Q5SZL8,

Q5SZM1,

Q5SZM2,

Q9P0N9,

U3KPS8,

U3KPY5,

U3KQ23,

U3KQD8,

U3KQQ0,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
TBC1D7

GO:0031398

positive regulation of protein ubiquitination

17658474

TBC1D7

GO:0043547

positive regulation of GTPase activity

17646400


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Gene structures and expression levels for TBC1D7

check buttonSkipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

ENSG00000145979
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
TCDOWNENST00000343141.8TBC1D7-201:protein_coding:TBC1D75.894751e+00-9.144462e-013.156633e-032.371198e-02
TCUPENST00000446018.5TBC1D7-211:protein_coding:TBC1D71.942360e+001.325504e+005.665850e-033.677466e-02

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for TBC1D7

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
psi tcga
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value
exon_skip_265175Mayo_CB4.937805e-016.208000e-01-1.270195e-011.280867e-06


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Open reading frame (ORF) annotation in the exon skipping event for TBC1D7

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003564361330760013307745Frame-shift
ENST000003793001330760013307745Frame-shift
ENST000003564361331657113316708In-frame
ENST000003793001331657113316708In-frame
ENST000003564361332509413325174In-frame
ENST000003793001332509413325174In-frame

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003564361331657113316708In-frame
ENST000003793001331657113316708In-frame
ENST000003564361332509413325174In-frame
ENST000003793001332509413325174In-frame

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003564361330760013307745Frame-shift
ENST000003793001330760013307745Frame-shift
ENST000003564361331657113316708In-frame
ENST000003793001331657113316708In-frame
ENST000003564361332509413325174In-frame
ENST000003793001332509413325174In-frame

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Infer the effects of exon skipping event on protein functional features for TBC1D7

p-ENSG00000145979_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000356436113329313325094133251741972763764
ENST00000379300129329313325094133251743574363764
ENST0000035643611332931331657113316708466602127172
ENST0000037930012932931331657113316708626762127172

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000356436113329313325094133251741972763764
ENST00000379300129329313325094133251743574363764
ENST0000035643611332931331657113316708466602127172
ENST0000037930012932931331657113316708626762127172

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000356436113329313325094133251741972763764
ENST00000379300129329313325094133251743574363764
ENST0000035643611332931331657113316708466602127172
ENST0000037930012932931331657113316708626762127172

check button Lost protein functional features of individual exon skipping events in ROSMAP.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q9P0N93764173Alternative sequenceID=VSP_044186;Note=In isoform 3. MTEDSQRNFRSVYYEKVGFRGVEEKKSLEILLKDDRLDTEKLCTFSQRFPLPSMYRALVWKVLLGILPPHHES->MEGASRNLASTPRV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9P0N93764173Alternative sequenceID=VSP_044186;Note=In isoform 3. MTEDSQRNFRSVYYEKVGFRGVEEKKSLEILLKDDRLDTEKLCTFSQRFPLPSMYRALVWKVLLGILPPHHES->MEGASRNLASTPRV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9P0N937643864Alternative sequenceID=VSP_041480;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2
Q9P0N937643864Alternative sequenceID=VSP_041480;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2
Q9P0N937641293ChainID=PRO_0000208031;Note=TBC1 domain family member 7
Q9P0N937641293ChainID=PRO_0000208031;Note=TBC1 domain family member 7
Q9P0N9376450231DomainNote=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163
Q9P0N9376450231DomainNote=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163
Q9P0N937643948HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N937643948HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N937645363HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N937645363HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N937645959Sequence conflictNote=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9P0N937645959Sequence conflictNote=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9P0N9127172127172Alternative sequenceID=VSP_044892;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5
Q9P0N9127172127172Alternative sequenceID=VSP_044892;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5
Q9P0N91271721293ChainID=PRO_0000208031;Note=TBC1 domain family member 7
Q9P0N91271721293ChainID=PRO_0000208031;Note=TBC1 domain family member 7
Q9P0N912717250231DomainNote=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163
Q9P0N912717250231DomainNote=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163
Q9P0N9127172129144HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N9127172129144HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N9127172148163HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N9127172148163HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N9127172170172HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N9127172170172HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N9127172136136Natural variantID=VAR_052538;Note=A->T;Dbxref=dbSNP:rs9381921
Q9P0N9127172136136Natural variantID=VAR_052538;Note=A->T;Dbxref=dbSNP:rs9381921
Q9P0N9127172164169TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N9127172164169TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL

check button Lost protein functional features of individual exon skipping events in MSBB.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q9P0N93764173Alternative sequenceID=VSP_044186;Note=In isoform 3. MTEDSQRNFRSVYYEKVGFRGVEEKKSLEILLKDDRLDTEKLCTFSQRFPLPSMYRALVWKVLLGILPPHHES->MEGASRNLASTPRV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9P0N93764173Alternative sequenceID=VSP_044186;Note=In isoform 3. MTEDSQRNFRSVYYEKVGFRGVEEKKSLEILLKDDRLDTEKLCTFSQRFPLPSMYRALVWKVLLGILPPHHES->MEGASRNLASTPRV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9P0N937643864Alternative sequenceID=VSP_041480;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2
Q9P0N937643864Alternative sequenceID=VSP_041480;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2
Q9P0N937641293ChainID=PRO_0000208031;Note=TBC1 domain family member 7
Q9P0N937641293ChainID=PRO_0000208031;Note=TBC1 domain family member 7
Q9P0N9376450231DomainNote=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163
Q9P0N9376450231DomainNote=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163
Q9P0N937643948HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N937643948HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N937645363HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N937645363HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N937645959Sequence conflictNote=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9P0N937645959Sequence conflictNote=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9P0N9127172127172Alternative sequenceID=VSP_044892;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5
Q9P0N9127172127172Alternative sequenceID=VSP_044892;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5
Q9P0N91271721293ChainID=PRO_0000208031;Note=TBC1 domain family member 7
Q9P0N91271721293ChainID=PRO_0000208031;Note=TBC1 domain family member 7
Q9P0N912717250231DomainNote=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163
Q9P0N912717250231DomainNote=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163
Q9P0N9127172129144HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N9127172129144HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N9127172148163HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N9127172148163HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N9127172170172HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N9127172170172HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N9127172136136Natural variantID=VAR_052538;Note=A->T;Dbxref=dbSNP:rs9381921
Q9P0N9127172136136Natural variantID=VAR_052538;Note=A->T;Dbxref=dbSNP:rs9381921
Q9P0N9127172164169TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N9127172164169TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL

check button Lost protein functional features of individual exon skipping events in Mayo.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q9P0N93764173Alternative sequenceID=VSP_044186;Note=In isoform 3. MTEDSQRNFRSVYYEKVGFRGVEEKKSLEILLKDDRLDTEKLCTFSQRFPLPSMYRALVWKVLLGILPPHHES->MEGASRNLASTPRV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9P0N93764173Alternative sequenceID=VSP_044186;Note=In isoform 3. MTEDSQRNFRSVYYEKVGFRGVEEKKSLEILLKDDRLDTEKLCTFSQRFPLPSMYRALVWKVLLGILPPHHES->MEGASRNLASTPRV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9P0N937643864Alternative sequenceID=VSP_041480;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2
Q9P0N937643864Alternative sequenceID=VSP_041480;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2
Q9P0N937641293ChainID=PRO_0000208031;Note=TBC1 domain family member 7
Q9P0N937641293ChainID=PRO_0000208031;Note=TBC1 domain family member 7
Q9P0N9376450231DomainNote=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163
Q9P0N9376450231DomainNote=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163
Q9P0N937643948HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N937643948HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N937645363HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N937645363HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N937645959Sequence conflictNote=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9P0N937645959Sequence conflictNote=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9P0N9127172127172Alternative sequenceID=VSP_044892;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5
Q9P0N9127172127172Alternative sequenceID=VSP_044892;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5
Q9P0N91271721293ChainID=PRO_0000208031;Note=TBC1 domain family member 7
Q9P0N91271721293ChainID=PRO_0000208031;Note=TBC1 domain family member 7
Q9P0N912717250231DomainNote=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163
Q9P0N912717250231DomainNote=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163
Q9P0N9127172129144HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N9127172129144HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N9127172148163HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N9127172148163HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N9127172170172HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N9127172170172HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N9127172136136Natural variantID=VAR_052538;Note=A->T;Dbxref=dbSNP:rs9381921
Q9P0N9127172136136Natural variantID=VAR_052538;Note=A->T;Dbxref=dbSNP:rs9381921
Q9P0N9127172164169TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL
Q9P0N9127172164169TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QWL


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3'-UTR located exon skipping events that lost miRNA binding sites in TBC1D7

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda

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SNVs in the skipped exons for TBC1D7

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for TBC1D7

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TBC1D7

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

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Correlation with RNA binding proteins (RBPs) for TBC1D7

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBRBM6exon_skip_265175-5.033251e-011.834919e-11
CBRBM3exon_skip_2651754.833460e-011.436954e-10
CBPCBP4exon_skip_2651754.379513e-019.690184e-09
DLPFCRBM3exon_skip_2651754.024042e-012.312511e-12
HCCRBM3exon_skip_2651754.257903e-014.737713e-13
IFGTIA1exon_skip_265175-4.730705e-013.514915e-02
IFGRALYLexon_skip_265175-4.497183e-014.665027e-02
PCCRBM3exon_skip_2651754.768706e-011.399746e-12
TCRBM3exon_skip_2651754.975838e-014.494405e-11

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RelatedDrugs for TBC1D7

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for TBC1D7

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource