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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 TCGA

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Exon skipping events with PSIs in GTEx

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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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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for RAP1GDS1

check button Gene summary
Gene informationGene symbol

RAP1GDS1

Gene ID

5910

Gene nameRap1 GTPase-GDP dissociation stimulator 1
SynonymsGDS1|SmgGDS
Cytomap

4q23

Type of geneprotein-coding
Descriptionrap1 GTPase-GDP dissociation stimulator 1RAP1, GTP-GDP dissociation stimulator 1SMG GDS proteinSMG P21 stimulatory GDP/GTP exchange proteinexchange factor smgGDS
Modification date20180523
UniProtAcc

P52306

ContextPubMed: RAP1GDS1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

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

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Exon skipping events across known transcript of Ensembl for RAP1GDS1 from UCSC genome browser

check buttonSkipped exons in TCGA and GTEx 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

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Gene isoform structures and expression levels for RAP1GDS1

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for RAP1GDS1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_425236499182668:99182720:99214555:99214666:99264289:9926441299214555:99214666ENSG00000138698.10ENST00000264572.7,ENST00000380158.4,ENST00000515187.1,ENST00000453712.2,ENST00000339360.5,ENST00000507303.1,ENST00000511212.1,ENST00000512857.1
exon_skip_425237499182668:99182720:99214558:99214666:99264289:9926441299214558:99214666ENSG00000138698.10ENST00000514122.1,ENST00000408927.3,ENST00000505378.1,ENST00000510870.1,ENST00000511379.1,ENST00000408900.3
exon_skip_425238499214558:99214666:99218068:99218141:99264289:9926441299218068:99218141ENSG00000138698.10ENST00000508490.1,ENST00000503667.1
exon_skip_425239499214558:99214666:99264289:99264412:99273626:9927371899264289:99264412ENSG00000138698.10ENST00000408927.3,ENST00000505378.1,ENST00000264572.7,ENST00000380158.4,ENST00000453712.2,ENST00000339360.5,ENST00000507303.1,ENST00000511379.1,ENST00000408900.3,ENST00000512857.1
exon_skip_425240499214558:99214666:99264289:99264470:99273626:9927371899264289:99264470ENSG00000138698.10ENST00000510870.1,ENST00000515187.1
exon_skip_425241499264289:99264412:99273626:99273752:99300167:9930031499273626:99273752ENSG00000138698.10ENST00000408927.3,ENST00000505378.1,ENST00000453712.2,ENST00000339360.5,ENST00000507303.1,ENST00000511379.1
exon_skip_425243499264289:99264412:99273626:99273752:99313102:9931314099273626:99273752ENSG00000138698.10ENST00000380158.4,ENST00000408900.3
exon_skip_425244499264289:99264412:99300167:99300314:99313102:9931314099300167:99300314ENSG00000138698.10ENST00000511212.1
exon_skip_425247499264289:99264470:99273626:99273752:99313102:9931314099273626:99273752ENSG00000138698.10ENST00000510870.1
exon_skip_425249499273663:99273752:99300167:99300314:99308586:9930865499300167:99300314ENSG00000138698.10ENST00000503745.1
exon_skip_425250499273663:99273752:99300167:99300314:99313102:9931314099300167:99300314ENSG00000138698.10ENST00000408927.3,ENST00000505378.1,ENST00000508213.1,ENST00000453712.2,ENST00000339360.5,ENST00000507303.1
exon_skip_425255499273663:99273752:99308586:99308658:99313102:9931314099308586:99308658ENSG00000138698.10ENST00000512857.1
exon_skip_425256499273663:99273752:99313102:99313231:99325627:9932573799313102:99313231ENSG00000138698.10ENST00000380158.4,ENST00000408900.3
exon_skip_425258499300309:99300314:99308586:99308654:99313102:9931314099308586:99308654ENSG00000138698.10ENST00000503745.1
exon_skip_425260499300309:99300314:99313102:99313231:99325627:9932573799313102:99313231ENSG00000138698.10ENST00000408927.3,ENST00000453712.2,ENST00000339360.5
exon_skip_425261499313102:99313231:99325627:99325753:99337895:9933803999325627:99325753ENSG00000138698.10ENST00000408927.3,ENST00000380158.4,ENST00000453712.2,ENST00000339360.5,ENST00000408900.3
exon_skip_425262499325627:99325753:99337895:99338039:99338517:9933864999337895:99338039ENSG00000138698.10ENST00000408927.3,ENST00000264572.7,ENST00000380158.4,ENST00000453712.2,ENST00000339360.5,ENST00000408900.3
exon_skip_425265499339807:99339942:99341169:99341295:99342405:9934243499341169:99341295ENSG00000138698.10ENST00000408927.3,ENST00000264572.7,ENST00000509501.1,ENST00000380158.4,ENST00000339360.5,ENST00000408900.3
exon_skip_425266499339807:99339942:99341169:99341295:99342408:9934254599341169:99341295ENSG00000138698.10ENST00000453712.2
exon_skip_425267499355086:99355213:99358090:99358219:99363140:9936326899358090:99358219ENSG00000138698.10ENST00000408927.3,ENST00000264572.7,ENST00000380158.4,ENST00000453712.2,ENST00000339360.5,ENST00000408900.3

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for RAP1GDS1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_425236499182668:99182720:99214555:99214666:99264289:9926441299214555:99214666ENSG00000138698.10ENST00000380158.4,ENST00000264572.7,ENST00000512857.1,ENST00000453712.2,ENST00000515187.1,ENST00000511212.1,ENST00000507303.1,ENST00000339360.5
exon_skip_425237499182668:99182720:99214558:99214666:99264289:9926441299214558:99214666ENSG00000138698.10ENST00000505378.1,ENST00000408927.3,ENST00000511379.1,ENST00000514122.1,ENST00000510870.1,ENST00000408900.3
exon_skip_425238499214558:99214666:99218068:99218141:99264289:9926441299218068:99218141ENSG00000138698.10ENST00000503667.1,ENST00000508490.1
exon_skip_425239499214558:99214666:99264289:99264412:99273626:9927371899264289:99264412ENSG00000138698.10ENST00000380158.4,ENST00000264572.7,ENST00000505378.1,ENST00000408927.3,ENST00000512857.1,ENST00000511379.1,ENST00000453712.2,ENST00000507303.1,ENST00000408900.3,ENST00000339360.5
exon_skip_425240499214558:99214666:99264289:99264470:99273626:9927371899264289:99264470ENSG00000138698.10ENST00000515187.1,ENST00000510870.1
exon_skip_425241499264289:99264412:99273626:99273752:99300167:9930031499273626:99273752ENSG00000138698.10ENST00000505378.1,ENST00000408927.3,ENST00000511379.1,ENST00000453712.2,ENST00000507303.1,ENST00000339360.5
exon_skip_425243499264289:99264412:99273626:99273752:99313102:9931314099273626:99273752ENSG00000138698.10ENST00000380158.4,ENST00000408900.3
exon_skip_425244499264289:99264412:99300167:99300314:99313102:9931314099300167:99300314ENSG00000138698.10ENST00000511212.1
exon_skip_425247499264289:99264470:99273626:99273752:99313102:9931314099273626:99273752ENSG00000138698.10ENST00000510870.1
exon_skip_425249499273663:99273752:99300167:99300314:99308586:9930865499300167:99300314ENSG00000138698.10ENST00000503745.1
exon_skip_425250499273663:99273752:99300167:99300314:99313102:9931314099300167:99300314ENSG00000138698.10ENST00000505378.1,ENST00000508213.1,ENST00000408927.3,ENST00000453712.2,ENST00000507303.1,ENST00000339360.5
exon_skip_425255499273663:99273752:99308586:99308658:99313102:9931314099308586:99308658ENSG00000138698.10ENST00000512857.1
exon_skip_425256499273663:99273752:99313102:99313231:99325627:9932573799313102:99313231ENSG00000138698.10ENST00000380158.4,ENST00000408900.3
exon_skip_425258499300309:99300314:99308586:99308654:99313102:9931314099308586:99308654ENSG00000138698.10ENST00000503745.1
exon_skip_425260499300309:99300314:99313102:99313231:99325627:9932573799313102:99313231ENSG00000138698.10ENST00000408927.3,ENST00000453712.2,ENST00000339360.5
exon_skip_425261499313102:99313231:99325627:99325753:99337895:9933803999325627:99325753ENSG00000138698.10ENST00000380158.4,ENST00000408927.3,ENST00000453712.2,ENST00000408900.3,ENST00000339360.5
exon_skip_425262499325627:99325753:99337895:99338039:99338517:9933864999337895:99338039ENSG00000138698.10ENST00000380158.4,ENST00000264572.7,ENST00000408927.3,ENST00000453712.2,ENST00000408900.3,ENST00000339360.5
exon_skip_425265499339807:99339942:99341169:99341295:99342405:9934243499341169:99341295ENSG00000138698.10ENST00000380158.4,ENST00000264572.7,ENST00000408927.3,ENST00000408900.3,ENST00000339360.5,ENST00000509501.1
exon_skip_425266499339807:99339942:99341169:99341295:99342408:9934254599341169:99341295ENSG00000138698.10ENST00000453712.2
exon_skip_425267499355086:99355213:99358090:99358219:99363140:9936326899358090:99358219ENSG00000138698.10ENST00000380158.4,ENST00000264572.7,ENST00000408927.3,ENST00000453712.2,ENST00000408900.3,ENST00000339360.5

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for RAP1GDS1

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000004089279921455899214666In-frame
ENST000004089279926428999264412In-frame
ENST000004089279927362699273752In-frame
ENST000004089279930016799300314In-frame
ENST000004089279931310299313231In-frame
ENST000004089279932562799325753In-frame
ENST000004089279933789599338039In-frame
ENST000004089279934116999341295In-frame
ENST000004089279935809099358219In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000004089279921455899214666In-frame
ENST000004089279926428999264412In-frame
ENST000004089279927362699273752In-frame
ENST000004089279930016799300314In-frame
ENST000004089279931310299313231In-frame
ENST000004089279932562799325753In-frame
ENST000004089279933789599338039In-frame
ENST000004089279934116999341295In-frame
ENST000004089279935809099358219In-frame

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Infer the effects of exon skipping event on protein functional features for RAP1GDS1

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000040892736986079921455899214666118225137
ENST00000408927369860799264289992644122263483778
ENST000004089273698607992736269927375234947478120
ENST0000040892736986079930016799300314475621120169
ENST0000040892736986079931310299313231622750169212
ENST0000040892736986079932562799325753751876212254
ENST00000408927369860799337895993380398771020254302
ENST000004089273698607993411699934129512881413391433
ENST000004089273698607993580909935821916811809522565

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000040892736986079921455899214666118225137
ENST00000408927369860799264289992644122263483778
ENST000004089273698607992736269927375234947478120
ENST0000040892736986079930016799300314475621120169
ENST0000040892736986079931310299313231622750169212
ENST0000040892736986079932562799325753751876212254
ENST00000408927369860799337895993380398771020254302
ENST000004089273698607993411699934129512881413391433
ENST000004089273698607993580909935821916811809522565

check button Lost protein functional features of individual exon skipping events in TCGA.
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


check button Lost protein functional features of individual exon skipping events in GTEx.
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


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SNVs in the skipped exons for RAP1GDS1

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

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

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
SARCTCGA-DX-A8BJ-01exon_skip_425260
exon_skip_425256
99313103993132319931319699313205Frame_Shift_DelTGTGTCTTGT-p.C203fs
SARCTCGA-DX-A8BJ-01exon_skip_425260
exon_skip_425256
99313103993132319931319699313205Frame_Shift_DelTGTGTCTTGT-p.MCLV201fs
LIHCTCGA-DD-A39Y-01exon_skip_425261
99325628993257539932574899325748Frame_Shift_DelA-p.E253fs
LIHCTCGA-G3-A3CJ-01exon_skip_425262
99337896993380399933802299338022Frame_Shift_DelT-p.V297fs
ESCATCGA-Z6-A9VB-01exon_skip_425237
exon_skip_425236
99214556992146669921462499214624Nonsense_MutationGTp.E25X
ESCATCGA-Z6-A9VB-01exon_skip_425237
exon_skip_425236
99214559992146669921462499214624Nonsense_MutationGTp.E25X
BLCATCGA-GU-A762-01exon_skip_425261
99325628993257539932566699325666Nonsense_MutationGTp.E226*
LUADTCGA-55-8506-01exon_skip_425261
99325628993257539932571499325714Nonsense_MutationGTp.E242*
UCECTCGA-AP-A056-01exon_skip_425261
99325628993257539932571499325714Nonsense_MutationGTp.E243*

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
NBSUSSR_AUTONOMIC_GANGLIA99341170993412959934120399341204Frame_Shift_Ins-CACAp.-404fs
TM31_CENTRAL_NERVOUS_SYSTEM99214559992146669921456199214561Missense_MutationAGp.N3D
TM31_CENTRAL_NERVOUS_SYSTEM99214556992146669921456199214561Missense_MutationAGp.N3D
GP2D_LARGE_INTESTINE99264290992644129926430299264302Missense_MutationGAp.S42N
GP2D_LARGE_INTESTINE99264290992644709926430299264302Missense_MutationGAp.S42N
GP5D_LARGE_INTESTINE99264290992644129926430299264302Missense_MutationGAp.S42N
GP5D_LARGE_INTESTINE99264290992644709926430299264302Missense_MutationGAp.S42N
BICR18_UPPER_AERODIGESTIVE_TRACT99264290992644129926438599264385Missense_MutationAGp.N70D
BICR18_UPPER_AERODIGESTIVE_TRACT99264290992644709926438599264385Missense_MutationAGp.N70D
BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE99264290992644129926440999264409Missense_MutationATp.N78Y
BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE99264290992644709926440999264409Missense_MutationATp.N78Y
RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE99273627992737529927363699273636Missense_MutationGCp.R82P
NCIH1339_LUNG99273627992737529927364299273642Missense_MutationCTp.P84L
WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE99300168993003149930017199300171Missense_MutationAGp.E122G
HSC1_SKIN99300168993003149930019799300197Missense_MutationGTp.G131C
BICR18_UPPER_AERODIGESTIVE_TRACT99300168993003149930026999300269Missense_MutationTAp.L155M
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE99300168993003149930026999300269Missense_MutationTAp.L155M
HEC251_ENDOMETRIUM99300168993003149930031099300310Missense_MutationGTp.E168D
SW156_KIDNEY99325628993257539932563999325639Missense_MutationGCp.E217Q
BT20_BREAST99337896993380399933792699337926Missense_MutationGAp.G265D
NCIH2085_LUNG99337896993380399933796499337964Missense_MutationGTp.V278L
NBTU110_AUTONOMIC_GANGLIA99337896993380399933797399337973Missense_MutationGAp.D281N
BT20_BREAST99337896993380399933797999337979Missense_MutationGCp.E283Q
2313287_STOMACH99337896993380399933803799338037Missense_MutationGAp.G302E
BICR18_UPPER_AERODIGESTIVE_TRACT99341170993412959934117299341172Missense_MutationAGp.I393V
HUH1_LIVER99341170993412959934123699341236Missense_MutationATp.E414V
G401_SOFT_TISSUE99358091993582199935810499358104Missense_MutationACp.K527N
HCC1359_LUNG99358091993582199935810599358105Missense_MutationGTp.D528Y
LU135_LUNG99358091993582199935816399358163Missense_MutationGAp.S547N
HCC202_BREAST99358091993582199935813699358136Nonsense_MutationTGp.L538*
BICR18_UPPER_AERODIGESTIVE_TRACT99273627992737529927362899273628Splice_SiteGAp.E79E
BT474_BREAST99273627992737529927375299273752Splice_SiteCTp.H121Y

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RAP1GDS1

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_425238499214558:99214666:99218068:99218141:99264289:9926441299218068:99218141ENST00000508490.1,ENST00000503667.1GBMrs34325900chr4:99218108G/GA7.25e-05
exon_skip_425238499214558:99214666:99218068:99218141:99264289:9926441299218068:99218141ENST00000508490.1,ENST00000503667.1ESCArs34325900chr4:99218108G/GA8.93e-09
exon_skip_425238499214558:99214666:99218068:99218141:99264289:9926441299218068:99218141ENST00000508490.1,ENST00000503667.1HNSCrs34325900chr4:99218108G/GA2.08e-11
exon_skip_425238499214558:99214666:99218068:99218141:99264289:9926441299218068:99218141ENST00000508490.1,ENST00000503667.1LGGrs34325900chr4:99218108G/GA1.56e-23
exon_skip_425238499214558:99214666:99218068:99218141:99264289:9926441299218068:99218141ENST00000508490.1,ENST00000503667.1LGGrs34325900chr4:99218108G/GA3.16e-03
exon_skip_425238499214558:99214666:99218068:99218141:99264289:9926441299218068:99218141ENST00000508490.1,ENST00000503667.1KIRCrs34325900chr4:99218108G/GA4.41e-11
exon_skip_425238499214558:99214666:99218068:99218141:99264289:9926441299218068:99218141ENST00000508490.1,ENST00000503667.1LUADrs34325900chr4:99218108G/GA1.72e-13
exon_skip_425238499214558:99214666:99218068:99218141:99264289:9926441299218068:99218141ENST00000508490.1,ENST00000503667.1PAADrs34325900chr4:99218108G/GA4.78e-04
exon_skip_425238499214558:99214666:99218068:99218141:99264289:9926441299218068:99218141ENST00000508490.1,ENST00000503667.1PRADrs34325900chr4:99218108G/GA1.15e-06
exon_skip_425238499214558:99214666:99218068:99218141:99264289:9926441299218068:99218141ENST00000508490.1,ENST00000503667.1SARCrs34325900chr4:99218108G/GA2.23e-04
exon_skip_425238499214558:99214666:99218068:99218141:99264289:9926441299218068:99218141ENST00000508490.1,ENST00000503667.1STADrs34325900chr4:99218108G/GA3.68e-14
exon_skip_425238499214558:99214666:99218068:99218141:99264289:9926441299218068:99218141ENST00000508490.1,ENST00000503667.1THCArs34325900chr4:99218108G/GA1.11e-20

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RAP1GDS1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RAP1GDS1


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RelatedDrugs for RAP1GDS1

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

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RelatedDiseases for RAP1GDS1

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