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Table 1 List of experimentally verified and reported gene biomarkers of TED

From: A data-driven approach for the discovery of biomarkers associated with thyroid eye disease

S.No.

GeneID

Gene Symbol

Gene Description

KEGG Pathway / Disease Term (Selected)

Map Location

Genomic Nucleotide Accession

Exon count

PMID

1

3091

HIF1A

hypoxia inducible factor 1 subunit alpha

Thyroid hormone signaling pathway (hsa04919), Thyroid cancer (hsa05216)

14q23.2

NC_000014.9

16

27,610,652

2

3576

CXCL8

C-X-C motif chemokine ligand 8

Cytokine-cytokine receptor interaction (hsa04060), Chemokine signaling pathway (hsa04062), NF-kappa B signaling pathway (hsa04064)

4q13.3

NC_000004.12

4

31,149,053, 31,059,842

3

3627

CXCL10

C-X-C motif chemokine ligand 10

Cytokine-cytokine receptor interaction (hsa04060), Chemokine signaling pathway (hsa04062), TNF signaling pathway (hsa04668)

4q21.1

NC_000004.12

4

31,059,842, 24,999,581, 22,378,921

4

3586

IL10

interleukin 10

Autoimmune thyroid disease (hsa05320), Cytokine-cytokine receptor interaction (hsa04060), Intestinal immune network for IgA production (hsa04672)

1q32.1

NC_000001.11

5

30,018,377, 21,067,483, 23,754,356

5

3605

IL17A

interleukin 17A

Cytokine-cytokine receptor interaction (hsa04060), Th17 cell differentiation (hsa04659), Inflammatory bowel disease (hsa05321)

6p12.2

NC_000006.12

3

24,994,866

6

50,616

IL22

interleukin 22

Cytokine-cytokine receptor interaction (hsa04060), Jak-STAT signaling pathway (hsa04630), Th17 cell differentiation (hsa04659), Inflammatory bowel disease (hsa05321)

12q15

NC_000012.12

6

28,839,453

7

3565

IL4

interleukin 4

Tyrosine metabolism (hsa00350), Phenylalanine metabolism (hsa00360),Tryptophan metabolism (hsa00380)

5q31.1

NC_000005.10

5

21,067,483

8

3569

IL6

interleukin 6

Cytokine-cytokine receptor interaction (hsa04060), Jak-STAT signaling pathway (hsa04630), Th17 cell differentiation (hsa04659)

7p15.3

NC_000007.14

6

30,018,377

9

3596

IL13

interleukin 13

Cytokine-cytokine receptor interaction (hsa04060), Jak-STAT signaling pathway (hsa04630), Th1 and Th2 cell differentiation (hsa04658)

5q31.1

NC_000005.10

6

30,018,377

10

3479

IGF1

insulin like growth factor 1

EGFR tyrosine kinase inhibitor resistance (hsa01521), Signaling pathways of MAPK (hsa04010), Ras (hsa04014) Rap1 (hsa04015), HIF-1 (hsa04066), FoxO (hsa04068), etc.

12q23.2

NC_000012.12

7

31,313,753, 25,560,705,

29,273,685, 26,188,228

11

7040

TGFB1

transforming growth factor beta 1

MAPK signaling pathway (hsa04010), Cytokine-cytokine receptor interaction (hsa04060), FoxO signaling pathway (hsa04068), Cell cycle (hsa04110)

19q13.2

NC_000019.10

7

20,181,974

12

3458

IFNG

interferon gamma

Cytokine-cytokine receptor interaction (hsa04060), Th1 and Th2 cell differentiation (hsa04658), Th17 cell differentiation (hsa04659)

12q15

NC_000012.12

4

20,181,974, 24,999,581, 23,754,356, 26,089,587, 22,378,921

13

7057

THBS1

thrombospondin 1

Rap1 signaling pathway (hsa04015), p53 signaling pathway (hsa04115), TGF-beta signaling pathway (hsa04350)

15q14

NC_000015.10

22

31,173,926, 26,154,823

14

7253

TSHR

Thyroid stimulating harmone receptor

Autoimmune thyroid disease (hsa05320),Thyroid hormone synthesis (hsa04918), cAMP signaling pathway (hsa04024)

14q31.1

NC_000014.9

12

29,771,755, 28,127,991, 12,790,806

15

7124

TNF-Alpha

tumor necrosis factor-α

Cytokine-cytokine receptor interaction (hsa04060), T cell receptor signaling pathway (hsa04660), MAPK signaling pathway (hsa04010)

6p21.33

NC_000006.12

4

30,018,377, 26,089,587, 22,378,921

16

3107

HLA-C

major histocompatibility complex, class I, C

Autoimmune thyroid disease (hsa05320), Endocytosis (hsa04144), Phagosome (hsa04145)

6p21.33

NC_000006.12

8

17,521,325,

17

1471

CST3

cystatin C

Salivary secretion (hsa04970), Age-related macular degeneration (H00821), Cerebral amyloid angiopathy (H01185)

20p11.21

NC_000020.11

4

30,018,377, 28,702,253, 25,829,418

18

12

SERPINA3

serpin family A member 3

AACT, ACT, GIG24, GIG25

14q32.13

NC_000014.9

5

30,018,377