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Out of the given list, which Gene is associated with head and neck cancer and uveal melanoma. Given list is: ABO, CACNA2D1, PSCA, TERT, SULT1B1 | ABO | CACNA2D1 | PSCA | TERT | SULT1B1 | CACNA2D1 |
Out of the given list, which Gene is associated with male breast cancer and urticaria. Given list is: BABAM1, RAD51B, PHGDH, ABO, TERT | BABAM1 | RAD51B | PHGDH | ABO | TERT | RAD51B |
Out of the given list, which Gene is associated with myeloproliferative neoplasm and interstitial lung disease. Given list is: LRMDA, TERT, CLDN14, UCK2, STAT3 | LRMDA | TERT | CLDN14 | UCK2 | STAT3 | TERT |
Out of the given list, which Gene is associated with myelodysplastic syndrome and psoriasis. Given list is: VAV3, TERT, CLPTM1L, PTPN22, HLA-B | VAV3 | TERT | CLPTM1L | PTPN22 | HLA-B | HLA-B |
Out of the given list, which Gene is associated with cervix carcinoma and autoimmune hepatitis. Given list is: CHST11, FAT3, IL6, ERAP1, HLA-DQA1 | CHST11 | FAT3 | IL6 | ERAP1 | HLA-DQA1 | HLA-DQA1 |
Out of the given list, which Gene is associated with autoimmune hepatitis and membranous glomerulonephritis. Given list is: STAT4, HLA-DQA1, TNFSF13, CFH, KITLG | STAT4 | HLA-DQA1 | TNFSF13 | CFH | KITLG | HLA-DQA1 |
Out of the given list, which Gene is associated with interstitial lung disease and triple-receptor negative breast cancer. Given list is: TERT, FER, TERT, PCDH15, PTK2B | TERT | FER | TERT | PCDH15 | PTK2B | TERT |
Out of the given list, which Gene is associated with herpes zoster and psoriatic arthritis. Given list is: HLA-B, ADGRV1, CPS1, SULT1B1, ATG5 | HLA-B | ADGRV1 | CPS1 | SULT1B1 | ATG5 | HLA-B |
Out of the given list, which Variant is associated with collagenous colitis and autoimmune hepatitis. Given list is: rs2187668, rs6426833, rs6969780, rs3787184, rs230540 | rs2187668 | rs6426833 | rs6969780 | rs3787184 | rs230540 | rs2187668 |
Out of the given list, which Gene is associated with myositis and Sjogren's syndrome. Given list is: STAT4, FTO, ACOXL, MORC4, TNXB | STAT4 | FTO | ACOXL | MORC4 | TNXB | STAT4 |
Out of the given list, which Gene is associated with liver cirrhosis and uveal melanoma. Given list is: VAV3, PSCA, CACNA2D1, NTM, SULT1B1 | VAV3 | PSCA | CACNA2D1 | NTM | SULT1B1 | CACNA2D1 |
Out of the given list, which Gene is associated with membranous glomerulonephritis and cutaneous lupus erythematosus. Given list is: ZFHX3, HLA-DQA1, EPDR1, CRTC1, HLA-DQA1 | ZFHX3 | HLA-DQA1 | EPDR1 | CRTC1 | HLA-DQA1 | HLA-DQA1 |
Out of the given list, which Gene is associated with nephrotic syndrome and oral cavity cancer. Given list is: CRTC1, PLG, AHR, SLC14A2, HLA-DQB1 | CRTC1 | PLG | AHR | SLC14A2 | HLA-DQB1 | HLA-DQB1 |
Out of the given list, which Gene is associated with duodenal ulcer and atrophic gastritis. Given list is: SLC17A4, GATA3, MST1, PSCA, SCN1A | SLC17A4 | GATA3 | MST1 | PSCA | SCN1A | PSCA |
Out of the given list, which Gene is associated with cocaine dependence and androgenic alopecia. Given list is: ATG5, ADGRV1, NEURL1, SLC14A2, HLA-DPB1 | ATG5 | ADGRV1 | NEURL1 | SLC14A2 | HLA-DPB1 | SLC14A2 |
Out of the given list, which Gene is associated with autoimmune hepatitis and collagenous colitis. Given list is: KALRN, TERT, PLA2R1, NANOS1, HLA-DQA1 | KALRN | TERT | PLA2R1 | NANOS1 | HLA-DQA1 | HLA-DQA1 |
Out of the given list, which Gene is associated with duodenal ulcer and gastric fundus cancer. Given list is: CACNA1S, MUC5B, FBN1, PSCA, BTC | CACNA1S | MUC5B | FBN1 | PSCA | BTC | PSCA |
Out of the given list, which Gene is associated with interstitial lung disease and idiopathic pulmonary fibrosis. Given list is: ATXN2, ERAP1, RBFOX1, NANOS1, TERT | ATXN2 | ERAP1 | RBFOX1 | NANOS1 | TERT | TERT |
Out of the given list, which Gene is associated with rheumatoid arthritis and myositis. Given list is: STAT3, BARD1, PTPN22, PRKN, C5AR1 | STAT3 | BARD1 | PTPN22 | PRKN | C5AR1 | PTPN22 |
Out of the given list, which Gene is associated with dengue hemorrhagic fever and intracranial aneurysm. Given list is: RP1, TLR1, UCK2, GNE, FADS1 | RP1 | TLR1 | UCK2 | GNE | FADS1 | RP1 |
Out of the given list, which Gene is associated with ulcerative colitis and ankylosing spondylitis. Given list is: ALDH1A2, IL23R, DTNB, SNTB1, MYH7 | ALDH1A2 | IL23R | DTNB | SNTB1 | MYH7 | IL23R |
Out of the given list, which Gene is associated with myelodysplastic syndrome and psoriatic arthritis. Given list is: MST1, BTNL2, HLA-B, HERC2, HLA-DQB1 | MST1 | BTNL2 | HLA-B | HERC2 | HLA-DQB1 | HLA-B |
Out of the given list, which Gene is associated with ankylosing spondylitis and inflammatory bowel disease. Given list is: LPP, UCK2, YLPM1, DAB2IP, IL23R | LPP | UCK2 | YLPM1 | DAB2IP | IL23R | IL23R |
Out of the given list, which Gene is associated with duodenal ulcer and malaria. Given list is: IGF1R, HLA-DQA1, USHBP1, ABO, GTF2I | IGF1R | HLA-DQA1 | USHBP1 | ABO | GTF2I | ABO |
Out of the given list, which Gene is associated with diffuse large B-cell lymphoma and psoriasis. Given list is: ERAP1, CLPTM1L, ADGRG6, HLA-B, MST1 | ERAP1 | CLPTM1L | ADGRG6 | HLA-B | MST1 | HLA-B |
Out of the given list, which Gene is associated with focal epilepsy and epilepsy. Given list is: SCN1A, ABCG2, DTNB, LRMDA, CPS1 | SCN1A | ABCG2 | DTNB | LRMDA | CPS1 | SCN1A |
Out of the given list, which Gene is associated with lung small cell carcinoma and cervix carcinoma. Given list is: TERT, ADGRV1, PHGDH, CACNA1D, TFAP2B | TERT | ADGRV1 | PHGDH | CACNA1D | TFAP2B | ADGRV1 |
Out of the given list, which Gene is associated with neuromyelitis optica and neurotic disorder. Given list is: TNRC18, PCDH7, CASZ1, GATA3, TNXB | TNRC18 | PCDH7 | CASZ1 | GATA3 | TNXB | TNXB |
Out of the given list, which Gene is associated with psoriasis and myelodysplastic syndrome. Given list is: NOD2, CHEK2, HLA-B, GCKR, PKNOX2 | NOD2 | CHEK2 | HLA-B | GCKR | PKNOX2 | HLA-B |
Out of the given list, which Gene is associated with mature B-cell neoplasm and cocaine dependence. Given list is: TLR1, SLC14A2, SCN1A, IL12RB2, PLG | TLR1 | SLC14A2 | SCN1A | IL12RB2 | PLG | SLC14A2 |
Out of the given list, which Gene is associated with neurotic disorder and neuromyelitis optica. Given list is: STAT4, LACC1, TNXB, UMPS, SFRP4 | STAT4 | LACC1 | TNXB | UMPS | SFRP4 | TNXB |
Out of the given list, which Gene is associated with differentiated thyroid gland carcinoma and hypothyroidism. Given list is: ERAP1, HLA-DQA1, VAV3, PINX1, PCDH15 | ERAP1 | HLA-DQA1 | VAV3 | PINX1 | PCDH15 | VAV3 |
Out of the given list, which Gene is associated with myelodysplastic syndrome and herpes zoster. Given list is: DTNB, HLA-B, ATP2B1, SLC14A2, KALRN | DTNB | HLA-B | ATP2B1 | SLC14A2 | KALRN | HLA-B |
Out of the given list, which Variant is associated with vitiligo and rheumatoid arthritis. Given list is: rs12203592, rs10103692, rs78378222, rs2476601, rs1150757 | rs12203592 | rs10103692 | rs78378222 | rs2476601 | rs1150757 | rs2476601 |
Out of the given list, which Gene is associated with central nervous system cancer and triple-receptor negative breast cancer. Given list is: SLC17A4, KITLG, CAPN14, CACNA2D1, TERT | SLC17A4 | KITLG | CAPN14 | CACNA2D1 | TERT | TERT |
Out of the given list, which Gene is associated with systemic scleroderma and Sjogren's syndrome. Given list is: KITLG, STAT4, SLC14A2, COL22A1, TDP2 | KITLG | STAT4 | SLC14A2 | COL22A1 | TDP2 | STAT4 |
Out of the given list, which Gene is associated with autoimmune hepatitis and oropharynx cancer. Given list is: EYA2, LOXL1, BTBD9, TMEM71, HLA-DQB1 | EYA2 | LOXL1 | BTBD9 | TMEM71 | HLA-DQB1 | HLA-DQB1 |
Out of the given list, which Gene is associated with oropharynx cancer and rheumatic heart disease. Given list is: DENND1A, HLA-DQB1, VRK2, TERT, CACNA1A | DENND1A | HLA-DQB1 | VRK2 | TERT | CACNA1A | HLA-DQB1 |
Out of the given list, which Variant is associated with cutaneous lupus erythematosus and autoimmune hepatitis. Given list is: rs1937450, rs2187668, rs6010620, rs2231142, rs10455872 | rs1937450 | rs2187668 | rs6010620 | rs2231142 | rs10455872 | rs2187668 |
Out of the given list, which Gene is associated with age related macular degeneration and Kuhnt-Junius degeneration. Given list is: VAV3, UGT1A8, CFH, TP53, HLA-DQA1 | VAV3 | UGT1A8 | CFH | TP53 | HLA-DQA1 | CFH |
Out of the given list, which Gene is associated with androgenic alopecia and mature B-cell neoplasm. Given list is: TM6SF2, HLA-B, SLC14A2, PHGDH, TTLL5 | TM6SF2 | HLA-B | SLC14A2 | PHGDH | TTLL5 | SLC14A2 |
Out of the given list, which Variant is associated with aortic stenosis and large artery stroke. Given list is: rs34243448, rs1893592, rs1765871, rs229541, rs10455872 | rs34243448 | rs1893592 | rs1765871 | rs229541 | rs10455872 | rs10455872 |
Out of the given list, which Gene is associated with pancreatic carcinoma and malaria. Given list is: HLA-DQA1, CACNA1S, KAT2B, ABO, ATXN2 | HLA-DQA1 | CACNA1S | KAT2B | ABO | ATXN2 | ABO |
Out of the given list, which Gene is associated with gastric fundus cancer and duodenal ulcer. Given list is: GSDMB, PSCA, CDKAL1, EML4, ADH1B | GSDMB | PSCA | CDKAL1 | EML4 | ADH1B | PSCA |
Out of the given list, which Gene is associated with estrogen-receptor negative breast cancer and squamous cell carcinoma. Given list is: BRCA2, CLDN14, HLA-DPB1, HLA-DQB1, MTTP | BRCA2 | CLDN14 | HLA-DPB1 | HLA-DQB1 | MTTP | BRCA2 |
Out of the given list, which Gene is associated with allergic rhinitis and Takayasu's arteritis. Given list is: MORC4, STN1, ABO, HLA-B, PNPLA3 | MORC4 | STN1 | ABO | HLA-B | PNPLA3 | HLA-B |
Out of the given list, which Gene is associated with triple-receptor negative breast cancer and interstitial lung disease. Given list is: ADGRG6, FGFR2, AFAP1, TERT, YLPM1 | ADGRG6 | FGFR2 | AFAP1 | TERT | YLPM1 | TERT |
Out of the given list, which Gene is associated with estrogen-receptor negative breast cancer and triple-receptor negative breast cancer. Given list is: TRAF3IP2, HBB, TERT, HOXD3, ATP2B1 | TRAF3IP2 | HBB | TERT | HOXD3 | ATP2B1 | TERT |
Out of the given list, which Gene is associated with myositis and systemic scleroderma. Given list is: BTNL2, DMRT1, STAT4, CLPTM1L, SLC2A9 | BTNL2 | DMRT1 | STAT4 | CLPTM1L | SLC2A9 | STAT4 |
Out of the given list, which Gene is associated with ulcerative colitis and inflammatory bowel disease. Given list is: SAMD9L, IL23R, GATA3, DNMT3A, RAD51B | SAMD9L | IL23R | GATA3 | DNMT3A | RAD51B | IL23R |
Out of the given list, which Gene is associated with collagenous colitis and membranous glomerulonephritis. Given list is: PHACTR1, CASZ1, PNPLA3, HLA-DQA1, ATP2B1 | PHACTR1 | CASZ1 | PNPLA3 | HLA-DQA1 | ATP2B1 | HLA-DQA1 |
Out of the given list, which Gene is associated with thyroid gland papillary carcinoma and hypothyroidism. Given list is: CLPTM1L, MYBPC3, FAM227B, VAV3, PRNP | CLPTM1L | MYBPC3 | FAM227B | VAV3 | PRNP | VAV3 |
Out of the given list, which Variant is associated with anti-neutrophil antibody associated vasculitis and autoimmune disease. Given list is: rs17293632, rs2487928, rs429358, rs6679677, rs6679677 | rs17293632 | rs2487928 | rs429358 | rs6679677 | rs6679677 | rs6679677 |
Out of the given list, which Gene is associated with immunoglobulin alpha deficiency and cutaneous lupus erythematosus. Given list is: PLA2R1, DTNB, FER, HLA-DQA1, PINX1 | PLA2R1 | DTNB | FER | HLA-DQA1 | PINX1 | HLA-DQA1 |
Out of the given list, which Gene is associated with psoriatic arthritis and Takayasu's arteritis. Given list is: TMC7, HLA-B, SLC2A9, PCDH7, PHGDH | TMC7 | HLA-B | SLC2A9 | PCDH7 | PHGDH | HLA-B |
Out of the given list, which Variant is associated with keratinocyte carcinoma"@e and autoimmune disease. Given list is: rs7936312, rs325485, rs13191786, rs72928038, rs7523907 | rs7936312 | rs325485 | rs13191786 | rs72928038 | rs7523907 | rs72928038 |
Out of the given list, which Variant is associated with age-related hearing impairment and keratinocyte carcinoma"@e. Given list is: rs259919, rs2503199, rs325485, rs1126809, rs229541 | rs259919 | rs2503199 | rs325485 | rs1126809 | rs229541 | rs1126809 |
Out of the given list, which Gene is associated with periodontitis and primary angle-closure glaucoma. Given list is: EPDR1, TYR, IL23R, STN1, PRNP | EPDR1 | TYR | IL23R | STN1 | PRNP | EPDR1 |
Out of the given list, which Gene is associated with age related macular degeneration and kidney disease. Given list is: RAD51B, CFH, C1orf127, CASZ1, HAAO | RAD51B | CFH | C1orf127 | CASZ1 | HAAO | CFH |
Out of the given list, which Variant is associated with duodenal ulcer and atrophic gastritis. Given list is: rs1975197, rs2294008, rs17398575, rs755383, rs1801274 | rs1975197 | rs2294008 | rs17398575 | rs755383 | rs1801274 | rs2294008 |
Out of the given list, which Variant is associated with skin sensitivity to sun and age-related hearing impairment. Given list is: rs61815704, rs4149909, rs36001488, rs1333047, rs1126809 | rs61815704 | rs4149909 | rs36001488 | rs1333047 | rs1126809 | rs1126809 |
Out of the given list, which Gene is associated with hypothyroidism and differentiated thyroid gland carcinoma. Given list is: PNPLA3, RELN, RP1, STAT4, VAV3 | PNPLA3 | RELN | RP1 | STAT4 | VAV3 | VAV3 |
Out of the given list, which Gene is associated with membranous glomerulonephritis and autoimmune hepatitis. Given list is: RBFOX1, RORA, IL2RA, BTC, HLA-DQA1 | RBFOX1 | RORA | IL2RA | BTC | HLA-DQA1 | HLA-DQA1 |
Out of the given list, which Gene is associated with psoriasis and diffuse large B-cell lymphoma. Given list is: PTPRD, XBP1, BRCA2, DMRT1, HLA-B | PTPRD | XBP1 | BRCA2 | DMRT1 | HLA-B | HLA-B |
Out of the given list, which Gene is associated with Sjogren's syndrome and systemic scleroderma. Given list is: BTN3A1, HLA-DQB1, JAK2, TGM2, STAT4 | BTN3A1 | HLA-DQB1 | JAK2 | TGM2 | STAT4 | STAT4 |
Out of the given list, which Gene is associated with lung carcinoma and triple-receptor negative breast cancer. Given list is: TERT, SLC2A9, MYBPC3, HLA-DQA1, WNT10A | TERT | SLC2A9 | MYBPC3 | HLA-DQA1 | WNT10A | TERT |
Out of the given list, which Variant is associated with Crohn's disease and ankylosing spondylitis. Given list is: rs8077245, rs11712066, rs11209026, rs10830962, rs6010620 | rs8077245 | rs11712066 | rs11209026 | rs10830962 | rs6010620 | rs11209026 |
Out of the given list, which Gene is associated with rheumatic heart disease and oral cavity cancer. Given list is: HLA-DQB1, IL23R, TM6SF2, BTC, SYT14 | HLA-DQB1 | IL23R | TM6SF2 | BTC | SYT14 | HLA-DQB1 |
Out of the given list, which Gene is associated with allergic rhinitis and myelodysplastic syndrome. Given list is: TRAF3IP2, FADS1, SHTN1, ATXN2, HLA-B | TRAF3IP2 | FADS1 | SHTN1 | ATXN2 | HLA-B | HLA-B |
Out of the given list, which Gene is associated with lung carcinoma and interstitial lung disease. Given list is: ATXN2, TERT, FAM227B, ALDH1A2, KALRN | ATXN2 | TERT | FAM227B | ALDH1A2 | KALRN | TERT |
Out of the given list, which Variant is associated with Kuhnt-Junius degeneration and age related macular degeneration. Given list is: rs219780, rs3197999, rs4072037, rs6691768, rs10490924 | rs219780 | rs3197999 | rs4072037 | rs6691768 | rs10490924 | rs10490924 |
Out of the given list, which Gene is associated with autoimmune hepatitis and oral cavity cancer. Given list is: CACNA2D1, HLF, SULT1B1, HLA-DQB1, DLEU7 | CACNA2D1 | HLF | SULT1B1 | HLA-DQB1 | DLEU7 | HLA-DQB1 |
Out of the given list, which Gene is associated with pancreatic carcinoma and oral cavity cancer. Given list is: GCKR, CLPTM1L, CHST11, CRTC1, COL22A1 | GCKR | CLPTM1L | CHST11 | CRTC1 | COL22A1 | CLPTM1L |
Out of the given list, which Variant is associated with rheumatoid arthritis and vitiligo. Given list is: rs7176508, rs11675342, rs3018362, rs6426833, rs2476601 | rs7176508 | rs11675342 | rs3018362 | rs6426833 | rs2476601 | rs2476601 |
Out of the given list, which Variant is associated with central nervous system cancer and lung adenocarcinoma. Given list is: rs7426056, rs2736100, rs2187668, rs2107595, rs7405776 | rs7426056 | rs2736100 | rs2187668 | rs2107595 | rs7405776 | rs2736100 |
Out of the given list, which Gene is associated with cervix carcinoma and membranous glomerulonephritis. Given list is: HLA-DQA1, WNT4, TNIP1, CAPN14, DTNB | HLA-DQA1 | WNT4 | TNIP1 | CAPN14 | DTNB | HLA-DQA1 |
Out of the given list, which Gene is associated with Hodgkin's lymphoma and Hodgkin's lymphoma, nodular sclerosis. Given list is: SHTN1, ERAP1, GATA3, XBP1, FTO | SHTN1 | ERAP1 | GATA3 | XBP1 | FTO | GATA3 |
Out of the given list, which Gene is associated with idiopathic pulmonary fibrosis and lung carcinoma. Given list is: ABCG2, SULT1B1, ERAP1, TERT, CHST11 | ABCG2 | SULT1B1 | ERAP1 | TERT | CHST11 | TERT |
Out of the given list, which Gene is associated with lung carcinoma and central nervous system cancer. Given list is: C9, GNE, CDKAL1, TERT, PTPN22 | C9 | GNE | CDKAL1 | TERT | PTPN22 | TERT |
Out of the given list, which Gene is associated with allergic rhinitis and psoriasis. Given list is: MYH7, ADH1B, MYH7, HLA-B, PKNOX2 | MYH7 | ADH1B | MYH7 | HLA-B | PKNOX2 | HLA-B |
Out of the given list, which Gene is associated with Barrett's esophagus and esophagus adenocarcinoma. Given list is: HLA-DQB1, CRTC1, HLA-B, CFH, MYBPC3 | HLA-DQB1 | CRTC1 | HLA-B | CFH | MYBPC3 | CRTC1 |
Out of the given list, which Variant is associated with atrophic gastritis and gastric fundus cancer. Given list is: rs2294008, rs9257809, rs35705950, rs12539707, rs2738048 | rs2294008 | rs9257809 | rs35705950 | rs12539707 | rs2738048 | rs2294008 |
Out of the given list, which Gene is associated with Hodgkin's lymphoma, nodular sclerosis and Hodgkin's lymphoma. Given list is: HLA-DQB2, FADS2, GATA3, TM6SF2, CFH | HLA-DQB2 | FADS2 | GATA3 | TM6SF2 | CFH | GATA3 |
Out of the given list, which Gene is associated with estrogen-receptor negative breast cancer and myeloproliferative neoplasm. Given list is: TERT, HLA-DQB2, BRCA2, GNE, STAT3 | TERT | HLA-DQB2 | BRCA2 | GNE | STAT3 | TERT |
Out of the given list, which Gene is associated with lung adenocarcinoma and central nervous system cancer. Given list is: POU5F1B, SCN1A, STAT4, TERT, BTNL2 | POU5F1B | SCN1A | STAT4 | TERT | BTNL2 | TERT |
Out of the given list, which Variant is associated with triple-receptor negative breast cancer and uterine fibroid. Given list is: rs4459895, rs8176719, rs115879499, rs78378222, rs2143571 | rs4459895 | rs8176719 | rs115879499 | rs78378222 | rs2143571 | rs78378222 |
Out of the given list, which Variant is associated with male breast cancer and breast carcinoma. Given list is: rs3803662, rs34574566, rs1278769, rs16948876, rs10488631 | rs3803662 | rs34574566 | rs1278769 | rs16948876 | rs10488631 | rs3803662 |
Out of the given list, which Variant is associated with Kawasaki disease and inflammatory bowel disease. Given list is: rs573872, rs2072499, rs1333040, rs1801274, rs3757318 | rs573872 | rs2072499 | rs1333040 | rs1801274 | rs3757318 | rs1801274 |
Out of the given list, which Gene is associated with central nervous system cancer and lung carcinoma. Given list is: MYBPC3, GCKR, STAT4, TERT, BTN2A1 | MYBPC3 | GCKR | STAT4 | TERT | BTN2A1 | TERT |
Out of the given list, which Gene is associated with cervix carcinoma and immunoglobulin alpha deficiency. Given list is: SAMD9L, CDK8, HLA-DQA1, CFH, PRKN | SAMD9L | CDK8 | HLA-DQA1 | CFH | PRKN | HLA-DQA1 |
Out of the given list, which Gene is associated with interstitial lung disease and central nervous system cancer. Given list is: FGFR2, TERT, HLA-DQA1, GTF2I, SLC14A2 | FGFR2 | TERT | HLA-DQA1 | GTF2I | SLC14A2 | TERT |
Out of the given list, which Gene is associated with estrogen-receptor negative breast cancer and central nervous system cancer. Given list is: FER, CACNA1D, COL22A1, TNFSF15, TERT | FER | CACNA1D | COL22A1 | TNFSF15 | TERT | TERT |
Out of the given list, which Gene is associated with duodenal ulcer and pancreatic carcinoma. Given list is: YLPM1, CFH, ABO, KALRN, STAT6 | YLPM1 | CFH | ABO | KALRN | STAT6 | ABO |
Out of the given list, which Gene is associated with oropharynx cancer and autoimmune hepatitis. Given list is: HLA-DQB1, TNXB, FBN1, C9, BTN3A1 | HLA-DQB1 | TNXB | FBN1 | C9 | BTN3A1 | HLA-DQB1 |
Out of the given list, which Gene is associated with membranous glomerulonephritis and cervix carcinoma. Given list is: PSCA, HLA-DQA1, KALRN, HLA-DQA1, HLA-DRB5 | PSCA | HLA-DQA1 | KALRN | HLA-DQA1 | HLA-DRB5 | HLA-DQA1 |
Out of the given list, which Gene is associated with myeloproliferative neoplasm and idiopathic pulmonary fibrosis. Given list is: FBN1, TERT, DLEU7, IL2RA, PTK2B | FBN1 | TERT | DLEU7 | IL2RA | PTK2B | TERT |
Out of the given list, which Gene is associated with Takayasu's arteritis and psoriatic arthritis. Given list is: RELN, HLA-B, HLA-B, SNTB1, SCN1A | RELN | HLA-B | HLA-B | SNTB1 | SCN1A | HLA-B |
Out of the given list, which Variant is associated with autoimmune disease and anti-neutrophil antibody associated vasculitis. Given list is: rs2310752, rs7528604, rs6679677, rs34691223, rs2963222 | rs2310752 | rs7528604 | rs6679677 | rs34691223 | rs2963222 | rs6679677 |
Out of the given list, which Gene is associated with diffuse large B-cell lymphoma and myelodysplastic syndrome. Given list is: IL23R, TERT, HLA-B, HLA-DQA1, TNXB | IL23R | TERT | HLA-B | HLA-DQA1 | TNXB | HLA-B |
Out of the given list, which Gene is associated with oral cavity cancer and rheumatic heart disease. Given list is: HLA-DQB1, HBB, TNNT2, ITPA, HLA-DQB1 | HLA-DQB1 | HBB | TNNT2 | ITPA | HLA-DQB1 | HLA-DQB1 |
BiomixQA Dataset
Overview
BiomixQA is a curated biomedical question-answering dataset comprising two distinct components:
- Multiple Choice Questions (MCQ)
- True/False Questions
This dataset has been utilized to validate the Knowledge Graph based Retrieval-Augmented Generation (KG-RAG) framework across different Large Language Models (LLMs). The diverse nature of questions in this dataset, spanning multiple choice and true/false formats, along with its coverage of various biomedical concepts, makes it particularly suitable for assessing the performance of KG-RAG framework.
Hence, this dataset is designed to support research and development in biomedical natural language processing, knowledge graph reasoning, and question-answering systems.
Dataset Components
1. Multiple Choice Questions (MCQ)
- File:
mcq_biomix.csv
- Size: 306 questions
- Format: Each question has five choices with a single correct answer
2. True/False Questions
- File:
true_false_biomix.csv
- Size: 311 questions
- Format: Binary (True/False) questions
Potential Uses
- Evaluating biomedical question-answering systems
- Testing natural language processing models in the biomedical domain
- Assessing retrieval capabilities of various RAG (Retrieval-Augmented Generation) frameworks
- Supporting research in biomedical ontologies and knowledge graphs
Performance Analysis
We conducted a comprehensive analysis of the performance of three Large Language Models (LLMs) - Llama-2-13b, GPT-3.5-Turbo (0613), and GPT-4 - on the BiomixQA dataset. We compared their performance using both a standard prompt-based approach (zero-shot) and our novel Knowledge Graph based Retrieval-Augmented Generation (KG-RAG) framework.
Performance Summary
Table 1: Performance (accuracy) of LLMs on BiomixQA datasets using prompt-based (zero-shot) and KG-RAG approaches (For more details, refer this paper)
Model | True/False Dataset | MCQ Dataset | ||
---|---|---|---|---|
Prompt-based | KG-RAG | Prompt-based | KG-RAG | |
Llama-2-13b | 0.89 ± 0.02 | 0.94 ± 0.01 | 0.31 ± 0.03 | 0.53 ± 0.03 |
GPT-3.5-Turbo (0613) | 0.87 ± 0.02 | 0.95 ± 0.01 | 0.63 ± 0.03 | 0.79 ± 0.02 |
GPT-4 | 0.90 ± 0.02 | 0.95 ± 0.01 | 0.68 ± 0.03 | 0.74 ± 0.03 |
Key Observations
Consistent Performance Enhancement: We observed a consistent performance enhancement for all LLM models when using the KG-RAG framework on both True/False and MCQ datasets.
Significant Improvement for Llama-2: The KG-RAG framework significantly elevated the performance of Llama-2-13b, particularly on the more challenging MCQ dataset. We observed an impressive 71% increase in accuracy, from 0.31 ± 0.03 to 0.53 ± 0.03.
GPT-4 vs GPT-3.5-Turbo on MCQ: Intriguingly, we observed a small but statistically significant drop in the performance of the GPT-4 model (0.74 ± 0.03) compared to the GPT-3.5-Turbo model (0.79 ± 0.02) on the MCQ dataset when using the KG-RAG framework. This difference was not observed in the prompt-based approach.
- Statistical significance: T-test, p-value < 0.0001, t-statistic = -47.7, N = 1000
True/False Dataset Performance: All models showed high performance on the True/False dataset, with the KG-RAG approach yielding slightly better results across all models.
Source Data
- SPOKE: A large scale biomedical knowledge graph that consists of ~40 million biomedical concepts and ~140 million biologically meaningful relationships (Morris et al. 2023).
- DisGeNET: Consolidates data about genes and genetic variants linked to human diseases from curated repositories, the GWAS catalog, animal models, and scientific literature (Piñero et al. 2016).
- MONDO: Provides information about the ontological classification of Disease entities in the Open Biomedical Ontologies (OBO) format (Vasilevsky et al. 2022).
- SemMedDB: Contains semantic predications extracted from PubMed citations (Kilicoglu et al. 2012).
- Monarch Initiative: A platform for disease-gene association data (Mungall et al. 2017).
- ROBOKOP: A knowledge graph-based system for biomedical data integration and analysis (Bizon et al. 2019).
Citation
If you use this dataset in your research, please cite the following paper:
@article{soman2024biomedical,
title={Biomedical knowledge graph-optimized prompt generation for large language models},
author={Soman, Karthik and Rose, Peter W and Morris, John H and Akbas, Rabia E and Smith, Brett and Peetoom, Braian and Villouta-Reyes, Catalina and Cerono, Gabriel and Shi, Yongmei and Rizk-Jackson, Angela and others},
journal={Bioinformatics},
volume={40},
number={9},
pages={btae560},
year={2024},
publisher={Oxford University Press}
}
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