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52 values
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:

  1. Multiple Choice Questions (MCQ)
  2. 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

  1. Evaluating biomedical question-answering systems
  2. Testing natural language processing models in the biomedical domain
  3. Assessing retrieval capabilities of various RAG (Retrieval-Augmented Generation) frameworks
  4. 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

  1. 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.

  2. 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.

  3. 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
  4. 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

  1. SPOKE: A large scale biomedical knowledge graph that consists of ~40 million biomedical concepts and ~140 million biologically meaningful relationships (Morris et al. 2023).
  2. 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).
  3. MONDO: Provides information about the ontological classification of Disease entities in the Open Biomedical Ontologies (OBO) format (Vasilevsky et al. 2022).
  4. SemMedDB: Contains semantic predications extracted from PubMed citations (Kilicoglu et al. 2012).
  5. Monarch Initiative: A platform for disease-gene association data (Mungall et al. 2017).
  6. 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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