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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 GGA3

check button Gene summary
Gene informationGene symbol

GGA3

Gene ID

23163

Gene namegolgi associated, gamma adaptin ear containing, ARF binding protein 3
Synonyms-
Cytomap

17q25.1

Type of geneprotein-coding
DescriptionADP-ribosylation factor-binding protein GGA3Golgi-localized, gamma ear-containing, ARF-binding protein 3
Modification date20180522
UniProtAcc

Q9NZ52

ContextPubMed: GGA3 [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 GGA3 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 GGA3

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 GGA3

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_2932671773233620:73233891:73234062:73234171:73234732:7323484373234062:73234171ENSG00000125447.12ENST00000580646.1
exon_skip_2932741773234994:73235164:73235455:73235652:73235869:7323618973235455:73235652ENSG00000125447.12ENST00000582717.1,ENST00000538886.1,ENST00000245541.6,ENST00000537584.2,ENST00000584978.1,ENST00000582486.1,ENST00000582200.1,ENST00000578348.1,ENST00000351904.7
exon_skip_2932811773238969:73238992:73239143:73239247:73239527:7323965173239143:73239247ENSG00000125447.12ENST00000582717.1,ENST00000538886.1,ENST00000245541.6,ENST00000537584.2,ENST00000582486.1,ENST00000580799.1,ENST00000582200.1,ENST00000578348.1,ENST00000351904.7
exon_skip_2932821773238969:73238992:73239143:73239339:73239527:7323965173239143:73239339ENSG00000125447.12ENST00000584243.1
exon_skip_2932831773239597:73239651:73240482:73240571:73240699:7324079873240482:73240571ENSG00000125447.12ENST00000582376.1
exon_skip_2932851773239597:73239651:73240699:73240798:73242589:7324266573240699:73240798ENSG00000125447.12ENST00000584243.1,ENST00000582717.1,ENST00000579743.1,ENST00000245541.6,ENST00000537584.2,ENST00000584978.1,ENST00000582486.1,ENST00000537686.1,ENST00000582200.1
exon_skip_2932901773242792:73242877:73244920:73245089:73257628:7325766673244920:73245089ENSG00000125447.12ENST00000537584.2,ENST00000577435.1
exon_skip_2932911773242792:73242877:73244920:73245089:73258362:7325843973244920:73245089ENSG00000125447.12ENST00000579743.1

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

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Exon skipping events with PSIs in GTEx for GGA3

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_2932671773233620:73233891:73234062:73234171:73234732:7323484373234062:73234171ENSG00000125447.12ENST00000580646.1
exon_skip_2932741773234994:73235164:73235455:73235652:73235869:7323618973235455:73235652ENSG00000125447.12ENST00000351904.7,ENST00000537584.2,ENST00000584978.1,ENST00000245541.6,ENST00000582200.1,ENST00000578348.1,ENST00000582486.1,ENST00000538886.1,ENST00000582717.1
exon_skip_2932811773238969:73238992:73239143:73239247:73239527:7323965173239143:73239247ENSG00000125447.12ENST00000351904.7,ENST00000537584.2,ENST00000245541.6,ENST00000582200.1,ENST00000578348.1,ENST00000582486.1,ENST00000538886.1,ENST00000582717.1,ENST00000580799.1
exon_skip_2932821773238969:73238992:73239143:73239339:73239527:7323965173239143:73239339ENSG00000125447.12ENST00000584243.1
exon_skip_2932831773239597:73239651:73240482:73240571:73240699:7324079873240482:73240571ENSG00000125447.12ENST00000582376.1
exon_skip_2932851773239597:73239651:73240699:73240798:73242589:7324266573240699:73240798ENSG00000125447.12ENST00000537584.2,ENST00000584978.1,ENST00000245541.6,ENST00000582200.1,ENST00000582486.1,ENST00000582717.1,ENST00000537686.1,ENST00000584243.1,ENST00000579743.1
exon_skip_2932901773242792:73242877:73244920:73245089:73257628:7325766673244920:73245089ENSG00000125447.12ENST00000537584.2,ENST00000577435.1
exon_skip_2932911773242792:73242877:73244920:73245089:73258362:7325843973244920:73245089ENSG00000125447.12ENST00000579743.1

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 GGA3

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
ENST000005376867324069973240798In-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
ENST000005376867324069973240798In-frame

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Infer the effects of exon skipping event on protein functional features for GGA3

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
ENST00000537686993723732406997324079822932767100

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
ENST00000537686993723732406997324079822932767100

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
Q9NZ52671001122Alternative sequenceID=VSP_045133;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9NZ5267100172Alternative sequenceID=VSP_046868;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9NZ526710068100Alternative sequenceID=VSP_001745;Note=In isoform Short. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10747089,ECO:0000303|PubMed:10749927,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:8590280;Dbxref=PMID:10747089,PMID:10
Q9NZ52671001723ChainID=PRO_0000212684;Note=ADP-ribosylation factor-binding protein GGA3
Q9NZ526710016146DomainNote=VHS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00218
Q9NZ52671005975HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JUQ
Q9NZ52671007784HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JUQ
Q9NZ52671008797HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JUQ
Q9NZ526710099103HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JUQ
Q9NZ52671001313RegionNote=Binds to ARF1 (in long isoform)


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
Q9NZ52671001122Alternative sequenceID=VSP_045133;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9NZ5267100172Alternative sequenceID=VSP_046868;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9NZ526710068100Alternative sequenceID=VSP_001745;Note=In isoform Short. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10747089,ECO:0000303|PubMed:10749927,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:8590280;Dbxref=PMID:10747089,PMID:10
Q9NZ52671001723ChainID=PRO_0000212684;Note=ADP-ribosylation factor-binding protein GGA3
Q9NZ526710016146DomainNote=VHS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00218
Q9NZ52671005975HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JUQ
Q9NZ52671007784HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JUQ
Q9NZ52671008797HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JUQ
Q9NZ526710099103HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JUQ
Q9NZ52671001313RegionNote=Binds to ARF1 (in long isoform)


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SNVs in the skipped exons for GGA3

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.
GGA3_SKCM_exon_skip_293285_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-G3-A3CJ-01exon_skip_293274
73235456732356527323547473235474Frame_Shift_DelG-p.L588fs
BLCATCGA-FD-A3NA-01exon_skip_293281
73239144732392477323917573239175Frame_Shift_DelT-p.N166fs
BLCATCGA-FD-A3NA-01exon_skip_293282
73239144732393397323917573239175Frame_Shift_DelT-p.N166fs
STADTCGA-CD-A4MJ-01exon_skip_293281
73239144732392477323917573239175Frame_Shift_DelT-p.N166fs
STADTCGA-CD-A4MJ-01exon_skip_293282
73239144732393397323917573239175Frame_Shift_DelT-p.N166fs
SKCMTCGA-W3-AA1V-06exon_skip_293274
73235456732356527323553473235534Nonsense_MutationGAp.Q568*
BLCATCGA-DK-A6AW-0173240700732407987324075373240753Nonsense_MutationCAp.E83*
SKCMTCGA-ER-A194-0173240700732407987324069973240699Splice_SiteCT.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
GGA3_73239597_73239651_73240699_73240798_73242589_73242665_TCGA-ER-A194-01Sample: TCGA-ER-A194-01
Cancer type: SKCM
ESID:
Skipped exon start: 73240700
Skipped exon end: 73240798
Mutation start: 73240699
Mutation end: 73240699
Mutation type: Splice_Site
Reference seq: C
Mutation seq: T
AAchange: .
exon_skip_293285_SKCM_TCGA-ER-A194-01.png
boxplot
exon_skip_297574_SKCM_TCGA-ER-A194-01.png
boxplot
exon_skip_297575_SKCM_TCGA-ER-A194-01.png
boxplot
exon_skip_385517_SKCM_TCGA-ER-A194-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HCC1143_BREAST73235456732356527323551573235515Missense_MutationGAp.P574L
SNUC2B_LARGE_INTESTINE73235456732356527323551573235515Missense_MutationGAp.P574L
HEC59_ENDOMETRIUM73235456732356527323556073235560Missense_MutationCTp.S559N
OVMANA_OVARY73235456732356527323556473235564Missense_MutationCTp.G558S
HEC1_ENDOMETRIUM73235456732356527323561173235611Missense_MutationGTp.P542H
HEC1B_ENDOMETRIUM73235456732356527323561173235611Missense_MutationGTp.P542H
EB3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE73239144732392477323922473239224Missense_MutationTGp.I150L
EB3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE73239144732393397323922473239224Missense_MutationTGp.I150L
L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE73239144732392477323924273239242Missense_MutationCGp.V144L
L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE73239144732393397323924273239242Missense_MutationCGp.V144L

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GGA3

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_2932901773242792:73242877:73244920:73245089:73257628:7325766673244920:73245089ENST00000537584.2,ENST00000577435.1COADrs78740665chr17:73244930G/C1.36e-03
exon_skip_2932901773242792:73242877:73244920:73245089:73257628:7325766673244920:73245089ENST00000537584.2,ENST00000577435.1HNSCrs78740665chr17:73244930G/C6.31e-06
exon_skip_2932901773242792:73242877:73244920:73245089:73257628:7325766673244920:73245089ENST00000537584.2,ENST00000577435.1HNSCrs78740665chr17:73244930G/C3.30e-04
exon_skip_2932901773242792:73242877:73244920:73245089:73257628:7325766673244920:73245089ENST00000537584.2,ENST00000577435.1LGGrs78740665chr17:73244930G/C3.72e-13
exon_skip_2932901773242792:73242877:73244920:73245089:73257628:7325766673244920:73245089ENST00000537584.2,ENST00000577435.1LGGrs78740665chr17:73244930G/C1.02e-04
exon_skip_2932901773242792:73242877:73244920:73245089:73257628:7325766673244920:73245089ENST00000537584.2,ENST00000577435.1KIRCrs78740665chr17:73244930G/C3.82e-06
exon_skip_2932901773242792:73242877:73244920:73245089:73257628:7325766673244920:73245089ENST00000537584.2,ENST00000577435.1KIRCrs78740665chr17:73244930G/C1.82e-03
exon_skip_2932901773242792:73242877:73244920:73245089:73257628:7325766673244920:73245089ENST00000537584.2,ENST00000577435.1LUADrs78740665chr17:73244930G/C5.07e-06
exon_skip_2932901773242792:73242877:73244920:73245089:73257628:7325766673244920:73245089ENST00000537584.2,ENST00000577435.1LUSCrs78740665chr17:73244930G/C5.30e-06
exon_skip_2932901773242792:73242877:73244920:73245089:73257628:7325766673244920:73245089ENST00000537584.2,ENST00000577435.1LUSCrs78740665chr17:73244930G/C8.87e-05
exon_skip_2932901773242792:73242877:73244920:73245089:73257628:7325766673244920:73245089ENST00000537584.2,ENST00000577435.1PAADrs78740665chr17:73244930G/C4.31e-05
exon_skip_2932901773242792:73242877:73244920:73245089:73257628:7325766673244920:73245089ENST00000537584.2,ENST00000577435.1PRADrs78740665chr17:73244930G/C3.18e-03
exon_skip_2932901773242792:73242877:73244920:73245089:73257628:7325766673244920:73245089ENST00000537584.2,ENST00000577435.1TGCTrs78740665chr17:73244930G/C7.32e-04
exon_skip_2932901773242792:73242877:73244920:73245089:73257628:7325766673244920:73245089ENST00000537584.2,ENST00000577435.1THCArs78740665chr17:73244930G/C9.24e-06
exon_skip_2932901773242792:73242877:73244920:73245089:73257628:7325766673244920:73245089ENST00000537584.2,ENST00000577435.1THCArs78740665chr17:73244930G/C6.32e-05
exon_skip_2932911773242792:73242877:73244920:73245089:73258362:7325843973244920:73245089ENST00000579743.1COADrs78740665chr17:73244930G/C1.36e-03
exon_skip_2932911773242792:73242877:73244920:73245089:73258362:7325843973244920:73245089ENST00000579743.1HNSCrs78740665chr17:73244930G/C6.31e-06
exon_skip_2932911773242792:73242877:73244920:73245089:73258362:7325843973244920:73245089ENST00000579743.1HNSCrs78740665chr17:73244930G/C3.30e-04
exon_skip_2932911773242792:73242877:73244920:73245089:73258362:7325843973244920:73245089ENST00000579743.1LGGrs78740665chr17:73244930G/C3.72e-13
exon_skip_2932911773242792:73242877:73244920:73245089:73258362:7325843973244920:73245089ENST00000579743.1LGGrs78740665chr17:73244930G/C1.02e-04
exon_skip_2932911773242792:73242877:73244920:73245089:73258362:7325843973244920:73245089ENST00000579743.1KIRCrs78740665chr17:73244930G/C3.82e-06
exon_skip_2932911773242792:73242877:73244920:73245089:73258362:7325843973244920:73245089ENST00000579743.1KIRCrs78740665chr17:73244930G/C1.82e-03
exon_skip_2932911773242792:73242877:73244920:73245089:73258362:7325843973244920:73245089ENST00000579743.1LUADrs78740665chr17:73244930G/C5.07e-06
exon_skip_2932911773242792:73242877:73244920:73245089:73258362:7325843973244920:73245089ENST00000579743.1LUSCrs78740665chr17:73244930G/C5.30e-06
exon_skip_2932911773242792:73242877:73244920:73245089:73258362:7325843973244920:73245089ENST00000579743.1LUSCrs78740665chr17:73244930G/C8.87e-05
exon_skip_2932911773242792:73242877:73244920:73245089:73258362:7325843973244920:73245089ENST00000579743.1PAADrs78740665chr17:73244930G/C4.31e-05
exon_skip_2932911773242792:73242877:73244920:73245089:73258362:7325843973244920:73245089ENST00000579743.1PRADrs78740665chr17:73244930G/C3.18e-03
exon_skip_2932911773242792:73242877:73244920:73245089:73258362:7325843973244920:73245089ENST00000579743.1TGCTrs78740665chr17:73244930G/C7.32e-04
exon_skip_2932911773242792:73242877:73244920:73245089:73258362:7325843973244920:73245089ENST00000579743.1THCArs78740665chr17:73244930G/C9.24e-06
exon_skip_2932911773242792:73242877:73244920:73245089:73258362:7325843973244920:73245089ENST00000579743.1THCArs78740665chr17:73244930G/C6.32e-05
exon_skip_2932831773239597:73239651:73240482:73240571:73240699:7324079873240482:73240571ENST00000582376.1GBMrs2306216chr17:73240559A/G7.69e-04
exon_skip_2932831773239597:73239651:73240482:73240571:73240699:7324079873240482:73240571ENST00000582376.1COADrs2306216chr17:73240559A/G1.22e-04
exon_skip_2932831773239597:73239651:73240482:73240571:73240699:7324079873240482:73240571ENST00000582376.1BLCArs2306216chr17:73240559A/G6.98e-04
exon_skip_2932831773239597:73239651:73240482:73240571:73240699:7324079873240482:73240571ENST00000582376.1ESCArs2306216chr17:73240559A/G8.52e-04
exon_skip_2932831773239597:73239651:73240482:73240571:73240699:7324079873240482:73240571ENST00000582376.1HNSCrs2306216chr17:73240559A/G1.33e-04
exon_skip_2932831773239597:73239651:73240482:73240571:73240699:7324079873240482:73240571ENST00000582376.1LGGrs2306216chr17:73240559A/G1.24e-10
exon_skip_2932831773239597:73239651:73240482:73240571:73240699:7324079873240482:73240571ENST00000582376.1KIRCrs2306216chr17:73240559A/G5.79e-04
exon_skip_2932831773239597:73239651:73240482:73240571:73240699:7324079873240482:73240571ENST00000582376.1LUADrs2306216chr17:73240559A/G1.83e-07
exon_skip_2932831773239597:73239651:73240482:73240571:73240699:7324079873240482:73240571ENST00000582376.1LUSCrs2306216chr17:73240559A/G9.00e-07
exon_skip_2932831773239597:73239651:73240482:73240571:73240699:7324079873240482:73240571ENST00000582376.1PRADrs2306216chr17:73240559A/G3.15e-04
exon_skip_2932831773239597:73239651:73240482:73240571:73240699:7324079873240482:73240571ENST00000582376.1THCArs2306216chr17:73240559A/G3.73e-08

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GGA3


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GGA3


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RelatedDrugs for GGA3

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 GGA3

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