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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:PPP1R12C-RAC2 (FusionGDB2 ID:67795)

Fusion Gene Summary for PPP1R12C-RAC2

Fusion gene summary

Fusion gene information	Fusion gene name: PPP1R12C-RAC2
	Fusion gene ID: 67795
		Hgene	Tgene
	Gene symbol	PPP1R12C	RAC2
	Gene ID	54776	5880
	Gene name	protein phosphatase 1 regulatory subunit 12C	Rac family small GTPase 2
	Synonyms	AAVS1\|LENG3\|MBS85\|p84\|p85	EN-7\|Gx\|HSPC022\|p21-Rac2
	Cytomap	19q13.42	22q13.1
	Type of gene	protein-coding	protein-coding
	Description	protein phosphatase 1 regulatory subunit 12Cleukocyte receptor cluster (LRC) encoded novel gene 3leukocyte receptor cluster (LRC) member 3myosin-binding subunit 85protein phosphatase 1 myosin-binding subunit of 85 kDaprotein phosphatase 1 myosin-bind	ras-related C3 botulinum toxin substrate 2Ras-related C3 botulinum toxin substrate 3 (rho family, small GTP-binding protein Rac2)ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)small G protein
	Modification date	20200313	20200313
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000263433, ENST00000376393, ENST00000435544,	ENST00000401529, ENST00000249071, ENST00000406508, ENST00000405484,
Fusion gene scores	* DoF score	23 X 6 X 11=1518	7 X 5 X 6=210
	# samples	24	8
	** MAII score	log2(24/1518*10)=-2.66106547980695 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(8/210*10)=-1.39231742277876 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: PPP1R12C [Title/Abstract] AND RAC2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	PPP1R12C(55610152)-RAC2(37622843), # samples:1
Anticipated loss of major functional domain due to fusion event.	PPP1R12C-RAC2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Tgene	RAC2	GO:0060263	regulation of respiratory burst	16636067

Fusion gene breakpoints across PPP1R12C (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across RAC2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	STAD	TCGA-BR-A44T-01A	PPP1R12C	chr19	55610152	-	RAC2	chr22	37622843	-

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Fusion Gene ORF analysis for PPP1R12C-RAC2

Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5CDS-intron	ENST00000263433	ENST00000401529	PPP1R12C	chr19	55610152	-	RAC2	chr22	37622843	-
5CDS-intron	ENST00000376393	ENST00000401529	PPP1R12C	chr19	55610152	-	RAC2	chr22	37622843	-
5CDS-intron	ENST00000435544	ENST00000401529	PPP1R12C	chr19	55610152	-	RAC2	chr22	37622843	-
Frame-shift	ENST00000263433	ENST00000249071	PPP1R12C	chr19	55610152	-	RAC2	chr22	37622843	-
Frame-shift	ENST00000263433	ENST00000406508	PPP1R12C	chr19	55610152	-	RAC2	chr22	37622843	-
Frame-shift	ENST00000376393	ENST00000249071	PPP1R12C	chr19	55610152	-	RAC2	chr22	37622843	-
Frame-shift	ENST00000376393	ENST00000406508	PPP1R12C	chr19	55610152	-	RAC2	chr22	37622843	-
Frame-shift	ENST00000435544	ENST00000249071	PPP1R12C	chr19	55610152	-	RAC2	chr22	37622843	-
Frame-shift	ENST00000435544	ENST00000406508	PPP1R12C	chr19	55610152	-	RAC2	chr22	37622843	-
In-frame	ENST00000263433	ENST00000405484	PPP1R12C	chr19	55610152	-	RAC2	chr22	37622843	-
In-frame	ENST00000376393	ENST00000405484	PPP1R12C	chr19	55610152	-	RAC2	chr22	37622843	-
In-frame	ENST00000435544	ENST00000405484	PPP1R12C	chr19	55610152	-	RAC2	chr22	37622843	-

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	Seq length (transcript)	BP loci (transcript)	Predicted start (transcript)	Predicted stop (transcript)	Seq length (amino acids)
ENST00000263433	PPP1R12C	chr19	55610152	-	ENST00000405484	RAC2	chr22	37622843	-	1098	967	16	975	319
ENST00000376393	PPP1R12C	chr19	55610152	-	ENST00000405484	RAC2	chr22	37622843	-	1098	967	16	975	319
ENST00000435544	PPP1R12C	chr19	55610152	-	ENST00000405484	RAC2	chr22	37622843	-	988	857	80	865	261

DeepORF 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.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000263433	ENST00000405484	PPP1R12C	chr19	55610152	-	RAC2	chr22	37622843	-	0.006336865	0.9936632
ENST00000376393	ENST00000405484	PPP1R12C	chr19	55610152	-	RAC2	chr22	37622843	-	0.006336865	0.9936632
ENST00000435544	ENST00000405484	PPP1R12C	chr19	55610152	-	RAC2	chr22	37622843	-	0.006949203	0.9930508

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Fusion Genomic Features for PPP1R12C-RAC2

FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for PPP1R12C-RAC2

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:55610152/chr22:37622843)
- 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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
.	.
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.	FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

Retention 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.

- In-frame and retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

PPP1R12C

chr19:55610152

chr22:37622843

ENST00000263433

100_129

317

783.0

Repeat

ANK 1

Hgene

PPP1R12C

chr19:55610152

chr22:37622843

ENST00000263433

133_162

317

783.0

Repeat

ANK 2

Hgene

PPP1R12C

chr19:55610152

chr22:37622843

ENST00000263433

226_255

317

783.0

Repeat

ANK 3

Hgene

PPP1R12C

chr19:55610152

chr22:37622843

ENST00000263433

259_288

317

783.0

Repeat

ANK 4

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

PPP1R12C

chr19:55610152

chr22:37622843

ENST00000263433

297_329

317

783.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

PPP1R12C

chr19:55610152

chr22:37622843

ENST00000263433

681_782

317

783.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

PPP1R12C

chr19:55610152

chr22:37622843

ENST00000263433

473_523

317

783.0

Compositional bias

Pro-rich

Tgene

RAC2

chr19:55610152

chr22:37622843

ENST00000249071

32_40

149

420.6666666666667

Motif

Effector region

Tgene

RAC2

chr19:55610152

chr22:37622843

ENST00000249071

10_17

149

420.6666666666667

Nucleotide binding

GTP

Tgene

RAC2

chr19:55610152

chr22:37622843

ENST00000249071

115_118

149

420.6666666666667

Nucleotide binding

GTP

Tgene

RAC2

chr19:55610152

chr22:37622843

ENST00000249071

57_61

149

420.6666666666667

Nucleotide binding

GTP

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Fusion Gene Sequence for PPP1R12C-RAC2

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>67795_67795_1_PPP1R12C-RAC2_PPP1R12C_chr19_55610152_ENST00000263433_RAC2_chr22_37622843_ENST00000405484_length(transcript)=1098nt_BP=967nt
GCGGGCGGGCGGTGCGATGTCCGGAGAGGATGGCCCGGCGGCTGGCCCGGGGGCGGCGGCGGCGGCTGCCCGGGAGCGGCGACGGGAGCA
GCTGCGGCAGTGGGGGGCGCGGGCGGGCGCCGAGCCTGGCCCCGGAGAGCGCCGCGCCCGCACCGTCCGCTTCGAGCGCGCCGCCGAGTT
CCTGGCGGCCTGTGCGGGCGGCGACCTGGACGAGGCGCGTCTGATGCTGCGCGCCGCCGACCCTGGCCCCGGCGCCGAGCTCGACCCCGC
CGCGCCGCCGCCCGCCCGCGCCGTGCTGGACTCCACCAACGCCGACGGTATCAGCGCCCTGCACCAGGCCTGCATTGATGAGAACCTGGA
GGTGGTGCGCTTCTTGGTGGAGCAGGGCGCCACTGTGAACCAGGCAGACAACGAGGGCTGGACGCCACTGCACGTGGCCGCCTCCTGTGG
CTACCTAGATATCGCCAGGTACCTCCTGAGCCACGGGGCCAACATCGCCGCCGTCAACAGTGACGGGGACCTGCCCCTGGACCTGGCCGA
GTCGGACGCCATGGAGGGGCTGCTGAAGGCGGAGATCGCCCGCCGAGGTGTGGATGTGGAAGCAGCCAAGCGGGCAGAAGAGGAATTGCT
CCTTCATGACACGAGGTGCTGGCTGAATGGGGGCGCCATGCCAGAGGCCCGGCACCCCCGCACAGGCGCCTCTGCCCTGCACGTGGCTGC
TGCCAAGGGCTACATTGAGGTGATGAGGTTGCTCCTTCAGGCTGGCTACGACCCAGAGCTCCGGGACGGGGACGGCTGGACTCCCCTGCA
CGCAGCGGCACACTGGGGCGTGGAGGATGCCTGCCGCCTGCTGGCCGAGCATGGCGGGGGCATGGACTCACTGACCCATGCGGGGCAGCG
TCCCTGTGACCTGGCCGATGAGGAAGTACTGAGCCTGTTGGAGGAACTGGCCCGGAAACAGGAGGACACTCGGTGAAATACCTGGAGTGC
TCAGCTCTCACCCAGAGAGGCCTGAAAACCGTGTTCGACGAGGCCATCCGGGCCGTGCTGTGCCCTCAGCCCACGCGGCAGCAGAAGCGC

>67795_67795_1_PPP1R12C-RAC2_PPP1R12C_chr19_55610152_ENST00000263433_RAC2_chr22_37622843_ENST00000405484_length(amino acids)=319AA_BP=
MSGEDGPAAGPGAAAAAARERRREQLRQWGARAGAEPGPGERRARTVRFERAAEFLAACAGGDLDEARLMLRAADPGPGAELDPAAPPPA
RAVLDSTNADGISALHQACIDENLEVVRFLVEQGATVNQADNEGWTPLHVAASCGYLDIARYLLSHGANIAAVNSDGDLPLDLAESDAME
GLLKAEIARRGVDVEAAKRAEEELLLHDTRCWLNGGAMPEARHPRTGASALHVAAAKGYIEVMRLLLQAGYDPELRDGDGWTPLHAAAHW

--------------------------------------------------------------
>67795_67795_2_PPP1R12C-RAC2_PPP1R12C_chr19_55610152_ENST00000376393_RAC2_chr22_37622843_ENST00000405484_length(transcript)=1098nt_BP=967nt
GCGGGCGGGCGGTGCGATGTCCGGAGAGGATGGCCCGGCGGCTGGCCCGGGGGCGGCGGCGGCGGCTGCCCGGGAGCGGCGACGGGAGCA
GCTGCGGCAGTGGGGGGCGCGGGCGGGCGCCGAGCCTGGCCCCGGAGAGCGCCGCGCCCGCACCGTCCGCTTCGAGCGCGCCGCCGAGTT
CCTGGCGGCCTGTGCGGGCGGCGACCTGGACGAGGCGCGTCTGATGCTGCGCGCCGCCGACCCTGGCCCCGGCGCCGAGCTCGACCCCGC
CGCGCCGCCGCCCGCCCGCGCCGTGCTGGACTCCACCAACGCCGACGGTATCAGCGCCCTGCACCAGGCCTGCATTGATGAGAACCTGGA
GGTGGTGCGCTTCTTGGTGGAGCAGGGCGCCACTGTGAACCAGGCAGACAACGAGGGCTGGACGCCACTGCACGTGGCCGCCTCCTGTGG
CTACCTAGATATCGCCAGGTACCTCCTGAGCCACGGGGCCAACATCGCCGCCGTCAACAGTGACGGGGACCTGCCCCTGGACCTGGCCGA
GTCGGACGCCATGGAGGGGCTGCTGAAGGCGGAGATCGCCCGCCGAGGTGTGGATGTGGAAGCAGCCAAGCGGGCAGAAGAGGAATTGCT
CCTTCATGACACGAGGTGCTGGCTGAATGGGGGCGCCATGCCAGAGGCCCGGCACCCCCGCACAGGCGCCTCTGCCCTGCACGTGGCTGC
TGCCAAGGGCTACATTGAGGTGATGAGGTTGCTCCTTCAGGCTGGCTACGACCCAGAGCTCCGGGACGGGGACGGCTGGACTCCCCTGCA
CGCAGCGGCACACTGGGGCGTGGAGGATGCCTGCCGCCTGCTGGCCGAGCATGGCGGGGGCATGGACTCACTGACCCATGCGGGGCAGCG
TCCCTGTGACCTGGCCGATGAGGAAGTACTGAGCCTGTTGGAGGAACTGGCCCGGAAACAGGAGGACACTCGGTGAAATACCTGGAGTGC
TCAGCTCTCACCCAGAGAGGCCTGAAAACCGTGTTCGACGAGGCCATCCGGGCCGTGCTGTGCCCTCAGCCCACGCGGCAGCAGAAGCGC

>67795_67795_2_PPP1R12C-RAC2_PPP1R12C_chr19_55610152_ENST00000376393_RAC2_chr22_37622843_ENST00000405484_length(amino acids)=319AA_BP=
MSGEDGPAAGPGAAAAAARERRREQLRQWGARAGAEPGPGERRARTVRFERAAEFLAACAGGDLDEARLMLRAADPGPGAELDPAAPPPA
RAVLDSTNADGISALHQACIDENLEVVRFLVEQGATVNQADNEGWTPLHVAASCGYLDIARYLLSHGANIAAVNSDGDLPLDLAESDAME
GLLKAEIARRGVDVEAAKRAEEELLLHDTRCWLNGGAMPEARHPRTGASALHVAAAKGYIEVMRLLLQAGYDPELRDGDGWTPLHAAAHW

--------------------------------------------------------------
>67795_67795_3_PPP1R12C-RAC2_PPP1R12C_chr19_55610152_ENST00000435544_RAC2_chr22_37622843_ENST00000405484_length(transcript)=988nt_BP=857nt
ACTCCTTCCTCAGCTCCAGTTCAGGTCCCGGAGCCCACCCAGTGTCCACAAGGCCTGGGGCAAGTCCCTCCTCCGACCCCCTGGACTTCG
GCTTTTGTCCCCCCAAGTTTTGGACCCCTAAGGGAAGAATGAGAAACGGTGGCCCGTGTCAGCCCCTGGCTGCAGGGCCCCGTGCAGAGG
GGGCCTCAGTGAACTGGAGTGTGACAGCCTGGGGCCCAGGCACACAGGCCTGCATTGATGAGAACCTGGAGGTGGTGCGCTTCTTGGTGG
AGCAGGGCGCCACTGTGAACCAGGCAGACAACGAGGGCTGGACGCCACTGCACGTGGCCGCCTCCTGTGGCTACCTAGATATCGCCAGGT
ACCTCCTGAGCCACGGGGCCAACATCGCCGCCGTCAACAGTGACGGGGACCTGCCCCTGGACCTGGCCGAGTCGGACGCCATGGAGGGGC
TGCTGAAGGCGGAGATCGCCCGCCGAGGTGTGGATGTGGAAGCAGCCAAGCGGGCAGAAGAGGAATTGCTCCTTCATGACACGAGGTGCT
GGCTGAATGGGGGCGCCATGCCAGAGGCCCGGCACCCCCGCACAGGCGCCTCTGCCCTGCACGTGGCTGCTGCCAAGGGCTACATTGAGG
TGATGAGGTTGCTCCTTCAGGCTGGCTACGACCCAGAGCTCCGGGACGGGGACGGCTGGACTCCCCTGCACGCAGCGGCACACTGGGGCG
TGGAGGATGCCTGCCGCCTGCTGGCCGAGCATGGCGGGGGCATGGACTCACTGACCCATGCGGGGCAGCGTCCCTGTGACCTGGCCGATG
AGGAAGTACTGAGCCTGTTGGAGGAACTGGCCCGGAAACAGGAGGACACTCGGTGAAATACCTGGAGTGCTCAGCTCTCACCCAGAGAGG

>67795_67795_3_PPP1R12C-RAC2_PPP1R12C_chr19_55610152_ENST00000435544_RAC2_chr22_37622843_ENST00000405484_length(amino acids)=261AA_BP=
MDFGFCPPKFWTPKGRMRNGGPCQPLAAGPRAEGASVNWSVTAWGPGTQACIDENLEVVRFLVEQGATVNQADNEGWTPLHVAASCGYLD
IARYLLSHGANIAAVNSDGDLPLDLAESDAMEGLLKAEIARRGVDVEAAKRAEEELLLHDTRCWLNGGAMPEARHPRTGASALHVAAAKG

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

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Fusion Gene PPI Analysis for PPP1R12C-RAC2

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for PPP1R12C-RAC2

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for PPP1R12C-RAC2

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source