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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:CTDSP2-HMGA2

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: CTDSP2-HMGA2
	FusionPDB ID: 20174
	FusionGDB2.0 ID: 20174
		Hgene	Tgene
	Gene symbol	CTDSP2	HMGA2
	Gene ID	10106	8091
	Gene name	CTD small phosphatase 2	high mobility group AT-hook 2
	Synonyms	OS4\|PSR2\|SCP2	BABL\|HMGI-C\|HMGIC\|LIPO\|STQTL9
	Cytomap	12q14.1	12q14.3
	Type of gene	protein-coding	protein-coding
	Description	carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2NLI-interacting factor 2conserved gene amplified in osteosarcomanuclear LIM interactor-intera	high mobility group protein HMGI-CHMGA2/KRT121P fusionhigh-mobility group (nonhistone chromosomal) protein isoform I-C
	Modification date	20200313	20200329
	UniProtAcc	O14595	P52926
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000398073, ENST00000548823, ENST00000547701,	ENST00000354636, ENST00000393578, ENST00000425208, ENST00000536545, ENST00000541363, ENST00000393577, ENST00000403681,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	32 X 8 X 10=2560	16 X 12 X 5=960
	# samples	37	15
	** MAII score	log2(37/2560*10)=-2.79054663437105 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(15/960*10)=-2.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: CTDSP2 [Title/Abstract] AND HMGA2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	CTDSP2(58240155)-HMGA2(66345163), # samples:1 CTDSP2(58240154)-HMGA2(66345162), # samples:1
Anticipated loss of major functional domain due to fusion event.	CTDSP2-HMGA2 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. CTDSP2-HMGA2 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. CTDSP2-HMGA2 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. CTDSP2-HMGA2 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. CTDSP2-HMGA2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. CTDSP2-HMGA2 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. CTDSP2-HMGA2 seems lost the major protein functional domain in Tgene partner, which is a transcription factor 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
Hgene	CTDSP2	GO:0006470	protein dephosphorylation	12721286
Tgene	HMGA2	GO:0000122	negative regulation of transcription by RNA polymerase II	14627817
Tgene	HMGA2	GO:0002062	chondrocyte differentiation	21484705
Tgene	HMGA2	GO:0006284	base-excision repair	19465398
Tgene	HMGA2	GO:0007095	mitotic G2 DNA damage checkpoint	16061642
Tgene	HMGA2	GO:0010564	regulation of cell cycle process	14645522
Tgene	HMGA2	GO:0010628	positive regulation of gene expression	18832382
Tgene	HMGA2	GO:0031052	chromosome breakage	19549901
Tgene	HMGA2	GO:0031507	heterochromatin assembly	16901784
Tgene	HMGA2	GO:0035978	histone H2A-S139 phosphorylation	16061642
Tgene	HMGA2	GO:0035986	senescence-associated heterochromatin focus assembly	16901784
Tgene	HMGA2	GO:0035988	chondrocyte proliferation	21484705
Tgene	HMGA2	GO:0042769	DNA damage response, detection of DNA damage	19465398
Tgene	HMGA2	GO:0043065	positive regulation of apoptotic process	16061642
Tgene	HMGA2	GO:0043066	negative regulation of apoptotic process	19465398
Tgene	HMGA2	GO:0043392	negative regulation of DNA binding	14645522
Tgene	HMGA2	GO:0043922	negative regulation by host of viral transcription	17005673
Tgene	HMGA2	GO:0045869	negative regulation of single stranded viral RNA replication via double stranded DNA intermediate	17005673
Tgene	HMGA2	GO:0045892	negative regulation of transcription, DNA-templated	18832382
Tgene	HMGA2	GO:0045893	positive regulation of transcription, DNA-templated	15225648\|15755872\|17005673\|17324944\|17426251
Tgene	HMGA2	GO:0045944	positive regulation of transcription by RNA polymerase II	14645522\|18832382
Tgene	HMGA2	GO:0071158	positive regulation of cell cycle arrest	16061642
Tgene	HMGA2	GO:0071902	positive regulation of protein serine/threonine kinase activity	19549901
Tgene	HMGA2	GO:0090402	oncogene-induced cell senescence	16901784
Tgene	HMGA2	GO:2000648	positive regulation of stem cell proliferation	21484705
Tgene	HMGA2	GO:2000679	positive regulation of transcription regulatory region DNA binding	18832382
Tgene	HMGA2	GO:2000685	positive regulation of cellular response to X-ray	16061642
Tgene	HMGA2	GO:2001022	positive regulation of response to DNA damage stimulus	16061642\|19465398
Tgene	HMGA2	GO:2001033	negative regulation of double-strand break repair via nonhomologous end joining	19549901
Tgene	HMGA2	GO:2001038	regulation of cellular response to drug	16061642

Fusion gene breakpoints across CTDSP2 (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 HMGA2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

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	SARC	TCGA-IF-A3RQ-01A	CTDSP2	chr12	58240155	-	HMGA2	chr12	66345163	+
ChimerDB4	SARC	TCGA-IF-A3RQ	CTDSP2	chr12	58240154	-	HMGA2	chr12	66345162	+

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

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)
ENST00000398073	CTDSP2	chr12	58240155	-	ENST00000403681	HMGA2	chr12	66345163	+	3452	368	126	614	162
ENST00000398073	CTDSP2	chr12	58240155	-	ENST00000393577	HMGA2	chr12	66345163	+	582	368	126	503	125
ENST00000548823	CTDSP2	chr12	58240155	-	ENST00000403681	HMGA2	chr12	66345163	+	3417	333	91	579	162
ENST00000548823	CTDSP2	chr12	58240155	-	ENST00000393577	HMGA2	chr12	66345163	+	547	333	91	468	125
ENST00000398073	CTDSP2	chr12	58240154	-	ENST00000403681	HMGA2	chr12	66345162	+	3452	368	126	614	162
ENST00000398073	CTDSP2	chr12	58240154	-	ENST00000393577	HMGA2	chr12	66345162	+	582	368	126	503	125
ENST00000548823	CTDSP2	chr12	58240154	-	ENST00000403681	HMGA2	chr12	66345162	+	3417	333	91	579	162
ENST00000548823	CTDSP2	chr12	58240154	-	ENST00000393577	HMGA2	chr12	66345162	+	547	333	91	468	125

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
ENST00000398073	ENST00000403681	CTDSP2	chr12	58240155	-	HMGA2	chr12	66345163	+	0.4227764	0.5772236
ENST00000398073	ENST00000393577	CTDSP2	chr12	58240155	-	HMGA2	chr12	66345163	+	0.7469587	0.2530413
ENST00000548823	ENST00000403681	CTDSP2	chr12	58240155	-	HMGA2	chr12	66345163	+	0.449018	0.550982
ENST00000548823	ENST00000393577	CTDSP2	chr12	58240155	-	HMGA2	chr12	66345163	+	0.83670354	0.16329645
ENST00000398073	ENST00000403681	CTDSP2	chr12	58240154	-	HMGA2	chr12	66345162	+	0.4227764	0.5772236
ENST00000398073	ENST00000393577	CTDSP2	chr12	58240154	-	HMGA2	chr12	66345162	+	0.7469587	0.2530413
ENST00000548823	ENST00000403681	CTDSP2	chr12	58240154	-	HMGA2	chr12	66345162	+	0.449018	0.550982
ENST00000548823	ENST00000393577	CTDSP2	chr12	58240154	-	HMGA2	chr12	66345162	+	0.83670354	0.16329645

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Fusion Amino Acid Sequences

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

>20174_20174_1_CTDSP2-HMGA2_CTDSP2_chr12_58240154_ENST00000398073_HMGA2_chr12_66345162_ENST00000393577_length(amino acids)=125AA_BP=80
MYRPPPFPVRGGNERGDVNSCGSRSLGSRSGPPPRPPSPAQPARPPVLPPSQPGPAGLLDGTRLHHHPGAEGRRPGAHQASHNKLFRRSL

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

>20174_20174_2_CTDSP2-HMGA2_CTDSP2_chr12_58240154_ENST00000398073_HMGA2_chr12_66345162_ENST00000403681_length(amino acids)=162AA_BP=80
MYRPPPFPVRGGNERGDVNSCGSRSLGSRSGPPPRPPSPAQPARPPVLPPSQPGPAGLLDGTRLHHHPGAEGRRPGAHQASHNKLFRRSL

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

>20174_20174_3_CTDSP2-HMGA2_CTDSP2_chr12_58240154_ENST00000548823_HMGA2_chr12_66345162_ENST00000393577_length(amino acids)=125AA_BP=80
MYRPPPFPVRGGNERGDVNSCGSRSLGSRSGPPPRPPSPAQPARPPVLPPSQPGPAGLLDGTRLHHHPGAEGRRPGAHQASHNKLFRRSL

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

>20174_20174_4_CTDSP2-HMGA2_CTDSP2_chr12_58240154_ENST00000548823_HMGA2_chr12_66345162_ENST00000403681_length(amino acids)=162AA_BP=80
MYRPPPFPVRGGNERGDVNSCGSRSLGSRSGPPPRPPSPAQPARPPVLPPSQPGPAGLLDGTRLHHHPGAEGRRPGAHQASHNKLFRRSL

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

>20174_20174_5_CTDSP2-HMGA2_CTDSP2_chr12_58240155_ENST00000398073_HMGA2_chr12_66345163_ENST00000393577_length(amino acids)=125AA_BP=80
MYRPPPFPVRGGNERGDVNSCGSRSLGSRSGPPPRPPSPAQPARPPVLPPSQPGPAGLLDGTRLHHHPGAEGRRPGAHQASHNKLFRRSL

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

>20174_20174_6_CTDSP2-HMGA2_CTDSP2_chr12_58240155_ENST00000398073_HMGA2_chr12_66345163_ENST00000403681_length(amino acids)=162AA_BP=80
MYRPPPFPVRGGNERGDVNSCGSRSLGSRSGPPPRPPSPAQPARPPVLPPSQPGPAGLLDGTRLHHHPGAEGRRPGAHQASHNKLFRRSL

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

>20174_20174_7_CTDSP2-HMGA2_CTDSP2_chr12_58240155_ENST00000548823_HMGA2_chr12_66345163_ENST00000393577_length(amino acids)=125AA_BP=80
MYRPPPFPVRGGNERGDVNSCGSRSLGSRSGPPPRPPSPAQPARPPVLPPSQPGPAGLLDGTRLHHHPGAEGRRPGAHQASHNKLFRRSL

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

>20174_20174_8_CTDSP2-HMGA2_CTDSP2_chr12_58240155_ENST00000548823_HMGA2_chr12_66345163_ENST00000403681_length(amino acids)=162AA_BP=80
MYRPPPFPVRGGNERGDVNSCGSRSLGSRSGPPPRPPSPAQPARPPVLPPSQPGPAGLLDGTRLHHHPGAEGRRPGAHQASHNKLFRRSL

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

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:58240155/chr12:66345163)
- 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
CTDSP2 O14595	HMGA2 P52926
FUNCTION: Preferentially catalyzes the dephosphorylation of 'Ser-5' within the tandem 7 residue repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by controlling the transition from initiation/capping to processive transcript elongation. Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells. May contribute to the development of sarcomas. {ECO:0000269\|PubMed:12721286, ECO:0000269\|PubMed:15681389}.	FUNCTION: Functions as a transcriptional regulator. Functions in cell cycle regulation through CCNA2. Plays an important role in chromosome condensation during the meiotic G2/M transition of spermatocytes. Plays a role in postnatal myogenesis, is involved in satellite cell activation (By similarity). Positively regulates IGF2 expression through PLAG1 and in a PLAG1-independent manner (PubMed:28796236). {ECO:0000250\|UniProtKB:P52927, ECO:0000269\|PubMed:14645522, ECO:0000269\|PubMed:28796236}.

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.

- 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

Tgene

HMGA2

chr12:58240154

chr12:66345162

ENST00000354636

24_34

107.0

DNA binding

Note=A.T hook 1

Tgene

HMGA2

chr12:58240154

chr12:66345162

ENST00000354636

44_54

107.0

DNA binding

Note=A.T hook 2

Tgene

HMGA2

chr12:58240154

chr12:66345162

ENST00000354636

71_82

107.0

DNA binding

Note=A.T hook 3

Tgene

HMGA2

chr12:58240154

chr12:66345162

ENST00000393578

24_34

91.0

DNA binding

Note=A.T hook 1

Tgene

HMGA2

chr12:58240154

chr12:66345162

ENST00000393578

44_54

91.0

DNA binding

Note=A.T hook 2

Tgene

HMGA2

chr12:58240154

chr12:66345162

ENST00000393578

71_82

91.0

DNA binding

Note=A.T hook 3

Tgene

HMGA2

chr12:58240154

chr12:66345162

ENST00000425208

24_34

93.0

DNA binding

Note=A.T hook 1

Tgene

HMGA2

chr12:58240154

chr12:66345162

ENST00000425208

44_54

93.0

DNA binding

Note=A.T hook 2

Tgene

HMGA2

chr12:58240154

chr12:66345162

ENST00000425208

71_82

93.0

DNA binding

Note=A.T hook 3

Tgene

HMGA2

chr12:58240155

chr12:66345163

ENST00000354636

24_34

107.0

DNA binding

Note=A.T hook 1

Tgene

HMGA2

chr12:58240155

chr12:66345163

ENST00000354636

44_54

107.0

DNA binding

Note=A.T hook 2

Tgene

HMGA2

chr12:58240155

chr12:66345163

ENST00000354636

71_82

107.0

DNA binding

Note=A.T hook 3

Tgene

HMGA2

chr12:58240155

chr12:66345163

ENST00000393578

24_34

91.0

DNA binding

Note=A.T hook 1

Tgene

HMGA2

chr12:58240155

chr12:66345163

ENST00000393578

44_54

91.0

DNA binding

Note=A.T hook 2

Tgene

HMGA2

chr12:58240155

chr12:66345163

ENST00000393578

71_82

91.0

DNA binding

Note=A.T hook 3

Tgene

HMGA2

chr12:58240155

chr12:66345163

ENST00000425208

24_34

93.0

DNA binding

Note=A.T hook 1

Tgene

HMGA2

chr12:58240155

chr12:66345163

ENST00000425208

44_54

93.0

DNA binding

Note=A.T hook 2

Tgene

HMGA2

chr12:58240155

chr12:66345163

ENST00000425208

71_82

93.0

DNA binding

Note=A.T hook 3

- 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

CTDSP2

chr12:58240154

chr12:66345162

ENST00000398073

97_255

21.333333333333332

272.0

Domain

FCP1 homology

Hgene

CTDSP2

chr12:58240155

chr12:66345163

ENST00000398073

97_255

21.333333333333332

272.0

Domain

FCP1 homology

Tgene

HMGA2

chr12:58240154

chr12:66345162

ENST00000403681

24_34

83.0

110.0

DNA binding

Note=A.T hook 1

Tgene

HMGA2

chr12:58240154

chr12:66345162

ENST00000403681

44_54

83.0

110.0

DNA binding

Note=A.T hook 2

Tgene

HMGA2

chr12:58240154

chr12:66345162

ENST00000403681

71_82

83.0

110.0

DNA binding

Note=A.T hook 3

Tgene

HMGA2

chr12:58240155

chr12:66345163

ENST00000403681

24_34

83.0

110.0

DNA binding

Note=A.T hook 1

Tgene

HMGA2

chr12:58240155

chr12:66345163

ENST00000403681

44_54

83.0

110.0

DNA binding

Note=A.T hook 2

Tgene

HMGA2

chr12:58240155

chr12:66345163

ENST00000403681

71_82

83.0

110.0

DNA binding

Note=A.T hook 3

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Fusion Protein-Protein Interaction

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 from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

HMGA2

RELA, NFKB1, PIAS3, RB1, PRMT6, NPM1, SMAD1, SMAD5, SMAD9, PRKCA, HDGF, PTBP1, APEX1, SYNCRIP, XRCC6, PSIP1, PA2G4, PCBP2, E4F1, OBSL1, HIST1H3A, CREB1, NFATC1, PCGF1, POU5F1, DLST, EZH2, SUZ12, MYC, TP53, MDM2, CSK, VRK1, HIST1H1B, PRKAG2, DUX4, DUX4L9, SYDE1, ARHGAP21, ARHGAP39, Plekhg5, ZNF263, MAFB, KAT2B, HIST1H2BG, LMNB1, NDUFAF7, CSNK2A1, LIG3, SUPT16H, VRK3, SP2, C1QBP, PARP2, TOP3A, CSNK2A2, XPC, RANBP17, PARP1, SUPV3L1, HIST2H2AC, HIST2H3PS2, KPNA4, USP7,

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
CTDSP2
HMGA2

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner	Gene	Hbp	Tbp	ENST	Strand	BPexon	TotalExon	Protein feature loci	*BPloci	TotalLen	Interaction lost with
Tgene	HMGA2	chr12:58240154	chr12:66345162	ENST00000403681		2	5	44_63	83.0	110.0	E4F1
Tgene	HMGA2	chr12:58240155	chr12:66345163	ENST00000403681		2	5	44_63	83.0	110.0	E4F1

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Related Drugs to CTDSP2-HMGA2

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

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to CTDSP2-HMGA2

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

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	HMGA2	C1519176	Salivary Gland Pleomorphic Adenoma	2	ORPHANET
Tgene	HMGA2	C0005612	Birth Weight	1	CTD_human
Tgene	HMGA2	C0006826	Malignant Neoplasms	1	CTD_human
Tgene	HMGA2	C0027626	Neoplasm Invasiveness	1	CTD_human
Tgene	HMGA2	C0027651	Neoplasms	1	CTD_human
Tgene	HMGA2	C0086692	Benign Neoplasm	1	CTD_human
Tgene	HMGA2	C0175693	Russell-Silver syndrome	1	GENOMICS_ENGLAND
Tgene	HMGA2	C0473935	Radiolabeled somatostatin analog study	1	GENOMICS_ENGLAND
Tgene	HMGA2	C0796160	MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE	1	GENOMICS_ENGLAND
Tgene	HMGA2	C1096309	Myolipoma	1	GENOMICS_ENGLAND
Tgene	HMGA2	C4305140	12q14 microdeletion syndrome	1	ORPHANET