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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:PRKCH-SMARCA2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PRKCH-SMARCA2
FusionPDB ID: 68765
FusionGDB2.0 ID: 68765
HgeneTgene
Gene symbol

PRKCH

SMARCA2

Gene ID

5583

6595

Gene nameprotein kinase C etaSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SynonymsPKC-L|PKCL|PRKCL|nPKC-etaBAF190|BRM|NCBRS|SNF2|SNF2L2|SNF2LA|SWI2|Sth1p|hBRM|hSNF2a
Cytomap

14q23.1

9p24.3

Type of geneprotein-codingprotein-coding
Descriptionprotein kinase C eta typeprobable global transcription activator SNF2L2ATP-dependent helicase SMARCA2BAF190BBRG1-associated factor 190BSNF2-alphaSNF2/SWI2-like protein 2SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a2brahma homologglobal transcr
Modification date2020031320200315
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000332981, ENST00000555082, 
ENST00000556245, 		ENST00000302401, 
ENST00000324954, ENST00000382185, 
ENST00000382186, ENST00000491574, 
ENST00000349721, ENST00000357248, 
ENST00000382194, ENST00000382203, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score9 X 7 X 4=25215 X 14 X 8=1680
# samples 1016
** MAII scorelog2(10/252*10)=-1.33342373372519
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/1680*10)=-3.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: PRKCH [Title/Abstract] AND SMARCA2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)PRKCH(61789182)-SMARCA2(2115821), # samples:1
Anticipated loss of major functional domain due to fusion event.PRKCH-SMARCA2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
PRKCH-SMARCA2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
PRKCH-SMARCA2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
PRKCH-SMARCA2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneSMARCA2

GO:0008285

negative regulation of cell proliferation

14660596

TgeneSMARCA2

GO:0045892

negative regulation of transcription, DNA-templated

12065415

TgeneSMARCA2

GO:0045893

positive regulation of transcription, DNA-templated

17984088

TgeneSMARCA2

GO:0045944

positive regulation of transcription by RNA polymerase II

15774904


check buttonFusion gene breakpoints across PRKCH (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across SMARCA2 (3'-gene)
* 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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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-BR-4257PRKCHchr14

61789182

+SMARCA2chr9

2115821

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000332981PRKCHchr1461789182+ENST00000357248SMARCA2chr92115821+2896748732010645
ENST00000332981PRKCHchr1461789182+ENST00000349721SMARCA2chr92115821+2950748732064663
ENST00000332981PRKCHchr1461789182+ENST00000382203SMARCA2chr92115821+2950748732064663
ENST00000332981PRKCHchr1461789182+ENST00000382194SMARCA2chr92115821+2849748732010645

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000332981ENST00000357248PRKCHchr1461789182+SMARCA2chr92115821+0.0005253050.9994747
ENST00000332981ENST00000349721PRKCHchr1461789182+SMARCA2chr92115821+0.0005352010.9994648
ENST00000332981ENST00000382203PRKCHchr1461789182+SMARCA2chr92115821+0.0005352010.9994648
ENST00000332981ENST00000382194PRKCHchr1461789182+SMARCA2chr92115821+0.0006102810.99938965

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>68765_68765_1_PRKCH-SMARCA2_PRKCH_chr14_61789182_ENST00000332981_SMARCA2_chr9_2115821_ENST00000349721_length(amino acids)=663AA_BP=225
MEKGRVLRESPGGAARLEGTVGLPRPAEGSAAGSPPFHLGREGRRGGKSPTEEAEWPVEGRLGAAFPQGCLDSCTCPEGWPETGLPVLPL
RSSAAPRGRGSGAGMSSGTMKFNGYLRVRIGEAVGLQPTRWSLRHSLFKKGHQLLDPYLTVSVDQVRVGQTSTKQKTNKPTYNEEFCANV
TDGGHLELAVFHETPLGYDHFVANCTLQFQELLRTTGASDTFEGWDLQAQDRAHRIGQQNEVRVLRLCTVNSVEEKILAAAKYKLNVDQK
VIQAGMFDQKSSSHERRAFLQAILEHEEENEEEDEVPDDETLNQMIARREEEFDLFMRMDMDRRREDARNPKRKPRLMEEDELPSWIIKD
DAEVERLTCEEEEEKIFGRGSRQRRDVDYSDALTEKQWLRAIEDGNLEEMEEEVRLKKRKRRRNVDKDPAKEDVEKAKKRRGRPPAEKLS
PNPPKLTKQMNAIIDTVINYKDRCNVEKVPSNSQLEIEGNSSGRQLSEVFIQLPSRKELPEYYELIRKPVDFKKIKERIRNHKYRSLGDL
EKDVMLLCHNAQTFNLEGSQIYEDSIVLQSVFKSARQKIAKEEESEDESNEEEEEEDEEESESEAKSVKVKIKLNKKDDKGRDKGKGKKR

--------------------------------------------------------------

>68765_68765_2_PRKCH-SMARCA2_PRKCH_chr14_61789182_ENST00000332981_SMARCA2_chr9_2115821_ENST00000357248_length(amino acids)=645AA_BP=225
MEKGRVLRESPGGAARLEGTVGLPRPAEGSAAGSPPFHLGREGRRGGKSPTEEAEWPVEGRLGAAFPQGCLDSCTCPEGWPETGLPVLPL
RSSAAPRGRGSGAGMSSGTMKFNGYLRVRIGEAVGLQPTRWSLRHSLFKKGHQLLDPYLTVSVDQVRVGQTSTKQKTNKPTYNEEFCANV
TDGGHLELAVFHETPLGYDHFVANCTLQFQELLRTTGASDTFEGWDLQAQDRAHRIGQQNEVRVLRLCTVNSVEEKILAAAKYKLNVDQK
VIQAGMFDQKSSSHERRAFLQAILEHEEENEEEDEVPDDETLNQMIARREEEFDLFMRMDMDRRREDARNPKRKPRLMEEDELPSWIIKD
DAEVERLTCEEEEEKIFGRGSRQRRDVDYSDALTEKQWLRAIEDGNLEEMEEEVRLKKRKRRRNVDKDPAKEDVEKAKKRRGRPPAEKLS
PNPPKLTKQMNAIIDTVINYKDSSGRQLSEVFIQLPSRKELPEYYELIRKPVDFKKIKERIRNHKYRSLGDLEKDVMLLCHNAQTFNLEG
SQIYEDSIVLQSVFKSARQKIAKEEESEDESNEEEEEEDEEESESEAKSVKVKIKLNKKDDKGRDKGKGKKRPNRGKAKPVVSDFDSDEE

--------------------------------------------------------------

>68765_68765_3_PRKCH-SMARCA2_PRKCH_chr14_61789182_ENST00000332981_SMARCA2_chr9_2115821_ENST00000382194_length(amino acids)=645AA_BP=225
MEKGRVLRESPGGAARLEGTVGLPRPAEGSAAGSPPFHLGREGRRGGKSPTEEAEWPVEGRLGAAFPQGCLDSCTCPEGWPETGLPVLPL
RSSAAPRGRGSGAGMSSGTMKFNGYLRVRIGEAVGLQPTRWSLRHSLFKKGHQLLDPYLTVSVDQVRVGQTSTKQKTNKPTYNEEFCANV
TDGGHLELAVFHETPLGYDHFVANCTLQFQELLRTTGASDTFEGWDLQAQDRAHRIGQQNEVRVLRLCTVNSVEEKILAAAKYKLNVDQK
VIQAGMFDQKSSSHERRAFLQAILEHEEENEEEDEVPDDETLNQMIARREEEFDLFMRMDMDRRREDARNPKRKPRLMEEDELPSWIIKD
DAEVERLTCEEEEEKIFGRGSRQRRDVDYSDALTEKQWLRAIEDGNLEEMEEEVRLKKRKRRRNVDKDPAKEDVEKAKKRRGRPPAEKLS
PNPPKLTKQMNAIIDTVINYKDSSGRQLSEVFIQLPSRKELPEYYELIRKPVDFKKIKERIRNHKYRSLGDLEKDVMLLCHNAQTFNLEG
SQIYEDSIVLQSVFKSARQKIAKEEESEDESNEEEEEEDEEESESEAKSVKVKIKLNKKDDKGRDKGKGKKRPNRGKAKPVVSDFDSDEE

--------------------------------------------------------------

>68765_68765_4_PRKCH-SMARCA2_PRKCH_chr14_61789182_ENST00000332981_SMARCA2_chr9_2115821_ENST00000382203_length(amino acids)=663AA_BP=225
MEKGRVLRESPGGAARLEGTVGLPRPAEGSAAGSPPFHLGREGRRGGKSPTEEAEWPVEGRLGAAFPQGCLDSCTCPEGWPETGLPVLPL
RSSAAPRGRGSGAGMSSGTMKFNGYLRVRIGEAVGLQPTRWSLRHSLFKKGHQLLDPYLTVSVDQVRVGQTSTKQKTNKPTYNEEFCANV
TDGGHLELAVFHETPLGYDHFVANCTLQFQELLRTTGASDTFEGWDLQAQDRAHRIGQQNEVRVLRLCTVNSVEEKILAAAKYKLNVDQK
VIQAGMFDQKSSSHERRAFLQAILEHEEENEEEDEVPDDETLNQMIARREEEFDLFMRMDMDRRREDARNPKRKPRLMEEDELPSWIIKD
DAEVERLTCEEEEEKIFGRGSRQRRDVDYSDALTEKQWLRAIEDGNLEEMEEEVRLKKRKRRRNVDKDPAKEDVEKAKKRRGRPPAEKLS
PNPPKLTKQMNAIIDTVINYKDRCNVEKVPSNSQLEIEGNSSGRQLSEVFIQLPSRKELPEYYELIRKPVDFKKIKERIRNHKYRSLGDL
EKDVMLLCHNAQTFNLEGSQIYEDSIVLQSVFKSARQKIAKEEESEDESNEEEEEEDEEESESEAKSVKVKIKLNKKDDKGRDKGKGKKR

--------------------------------------------------------------

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr14:61789182/chr9:2115821)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePRKCHchr14:61789182chr9:2115821ENST00000332981+1141_118121.0684.0DomainC2
TgeneSMARCA2chr14:61789182chr9:2115821ENST0000034972123341297_13011152.01591.0Compositional biasNote=Poly-Glu
TgeneSMARCA2chr14:61789182chr9:2115821ENST0000034972123341518_15291152.01591.0Compositional biasNote=Poly-Glu
TgeneSMARCA2chr14:61789182chr9:2115821ENST0000035724823331297_13011152.01573.0Compositional biasNote=Poly-Glu
TgeneSMARCA2chr14:61789182chr9:2115821ENST0000035724823331518_15291152.01573.0Compositional biasNote=Poly-Glu
TgeneSMARCA2chr14:61789182chr9:2115821ENST0000038219422321297_13011152.01573.0Compositional biasNote=Poly-Glu
TgeneSMARCA2chr14:61789182chr9:2115821ENST0000038219422321518_15291152.01573.0Compositional biasNote=Poly-Glu
TgeneSMARCA2chr14:61789182chr9:2115821ENST0000038220323341297_13011152.01591.0Compositional biasNote=Poly-Glu
TgeneSMARCA2chr14:61789182chr9:2115821ENST0000038220323341518_15291152.01591.0Compositional biasNote=Poly-Glu
TgeneSMARCA2chr14:61789182chr9:2115821ENST0000034972123341419_14891152.01591.0DomainBromo
TgeneSMARCA2chr14:61789182chr9:2115821ENST0000035724823331419_14891152.01573.0DomainBromo
TgeneSMARCA2chr14:61789182chr9:2115821ENST0000038219422321419_14891152.01573.0DomainBromo
TgeneSMARCA2chr14:61789182chr9:2115821ENST0000038220323341419_14891152.01591.0DomainBromo

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePRKCHchr14:61789182chr9:2115821ENST00000332981+114355_614121.0684.0DomainProtein kinase
HgenePRKCHchr14:61789182chr9:2115821ENST00000332981+114615_683121.0684.0DomainAGC-kinase C-terminal
HgenePRKCHchr14:61789182chr9:2115821ENST00000332981+114361_369121.0684.0Nucleotide bindingATP
HgenePRKCHchr14:61789182chr9:2115821ENST00000332981+114171_222121.0684.0Zinc fingerPhorbol-ester/DAG-type 1
HgenePRKCHchr14:61789182chr9:2115821ENST00000332981+114245_295121.0684.0Zinc fingerPhorbol-ester/DAG-type 2
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003497212334216_2381152.01591.0Compositional biasNote=Poly-Gln
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003497212334245_2531152.01591.0Compositional biasNote=Poly-Gln
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003497212334559_5621152.01591.0Compositional biasNote=Poly-Arg
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003497212334643_6501152.01591.0Compositional biasNote=Poly-Glu
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003572482333216_2381152.01573.0Compositional biasNote=Poly-Gln
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003572482333245_2531152.01573.0Compositional biasNote=Poly-Gln
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003572482333559_5621152.01573.0Compositional biasNote=Poly-Arg
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003572482333643_6501152.01573.0Compositional biasNote=Poly-Glu
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003821942232216_2381152.01573.0Compositional biasNote=Poly-Gln
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003821942232245_2531152.01573.0Compositional biasNote=Poly-Gln
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003821942232559_5621152.01573.0Compositional biasNote=Poly-Arg
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003821942232643_6501152.01573.0Compositional biasNote=Poly-Glu
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003822032334216_2381152.01591.0Compositional biasNote=Poly-Gln
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003822032334245_2531152.01591.0Compositional biasNote=Poly-Gln
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003822032334559_5621152.01591.0Compositional biasNote=Poly-Arg
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003822032334643_6501152.01591.0Compositional biasNote=Poly-Glu
TgeneSMARCA2chr14:61789182chr9:2115821ENST0000034972123341054_12161152.01591.0DomainHelicase C-terminal
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003497212334173_2081152.01591.0DomainQLQ
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003497212334436_5081152.01591.0DomainHSA
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003497212334736_9011152.01591.0DomainHelicase ATP-binding
TgeneSMARCA2chr14:61789182chr9:2115821ENST0000035724823331054_12161152.01573.0DomainHelicase C-terminal
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003572482333173_2081152.01573.0DomainQLQ
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003572482333436_5081152.01573.0DomainHSA
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003572482333736_9011152.01573.0DomainHelicase ATP-binding
TgeneSMARCA2chr14:61789182chr9:2115821ENST0000038219422321054_12161152.01573.0DomainHelicase C-terminal
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003821942232173_2081152.01573.0DomainQLQ
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003821942232436_5081152.01573.0DomainHSA
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003821942232736_9011152.01573.0DomainHelicase ATP-binding
TgeneSMARCA2chr14:61789182chr9:2115821ENST0000038220323341054_12161152.01591.0DomainHelicase C-terminal
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003822032334173_2081152.01591.0DomainQLQ
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003822032334436_5081152.01591.0DomainHSA
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003822032334736_9011152.01591.0DomainHelicase ATP-binding
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003497212334851_8541152.01591.0MotifNote=DEGH box
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003572482333851_8541152.01573.0MotifNote=DEGH box
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003821942232851_8541152.01573.0MotifNote=DEGH box
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003822032334851_8541152.01591.0MotifNote=DEGH box
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003497212334749_7561152.01591.0Nucleotide bindingATP
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003572482333749_7561152.01573.0Nucleotide bindingATP
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003821942232749_7561152.01573.0Nucleotide bindingATP
TgeneSMARCA2chr14:61789182chr9:2115821ENST000003822032334749_7561152.01591.0Nucleotide bindingATP


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Fusion Protein-Protein Interaction


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
PRKCH
SMARCA2


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to PRKCH-SMARCA2


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to PRKCH-SMARCA2


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource