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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **151 - 175** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:4465	papillary renal cell carcinoma Aliases: Chromophil carcinoma of kidney papillary kidney carcinoma sporadic papillary renal cell carcinoma	ACACA ACADM ACAT1 ACAT2 ACE ACHE ACLY ACOT7 ACSL1 ACSS1 ACSS2 ACYP2 ADH7 AGK AGRN AKR1A1 AKR1C2 AKR1C3 ALDH1A3 ALDH3B1 ALDH6A1 ALDH9A1 ALDOA ALDOB ALOX12 ALOX12B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ATRNL1 B3GALT6 B3GAT1 B4GALNT1 B4GALNT3 BST2 CA4 CALR CAT CD14 CD1D CD209 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CERS1 CERS2 CHI3L1 CHI3L2 CHPT1 CHSY1 CLEC1B CMAS COMT CPT1C CRPPA CYP19A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN DHCR24 DHDDS DLD DLST EBP ECHS1 EFNA1 ELOVL2 ENO1 ENO2 ENPP2 ENPP3 FASN FBP1 FCER2 FCGR3B FH FPGT FUCA1 FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GAPDH GAS1 GGT1 GLA GNE GNPTAB GOLPH3 GPC3 GPI GPNMB GPX1 GPX3 GUSB HAO2 HAS1 HK2 HMMR HPGDS HPRT1 HPSE HSD11B2 HSD17B6 ICAM1 IDH1 IDUA IL18R1 IL1R1 IMPA2 INPP4B INPPL1 KDSR KHK KL KLB KLRC1 L1CAM L2HGDH LDHA LDHB LDHC LDHD LGALS1 LGALS3 LGALS8 LGALS9 LIPA LMAN2L LPCAT1 LY6G6D LYPD5 MAN1C1 MCAT MDH2 MGAT3 MGAT5 MGAT5B MICA MINPP1 MMUT MPPE1 MRC1 MTAP NAMPT NCAM1 NDST1 NEU1 NEU3 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARG PARP1 PC PCYT1A PDHB PDIA3 PGK1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKM PLA2G15 PLA2G1B PLA2G2A PLA2G6 PLA2R1 PLAUR PLD1 PLD2 POGLUT3 PPAT PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGDS PTGES3 PTGES PTGIS PTGS1 PTGS2 RECK RGN RPIA SCD SDC1 SDC3 SDC4 SDHA SDHB SDHC SDHD SELE SELL SELP SHMT1 SIRT2 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35G2 SMUG1 SOAT1 SORD SPHK1 SPHK2 SPTLC1 ST3GAL2 ST3GAL4 ST8SIA4 STS SULF2 TIGAR TKTL1 TM7SF2 TMED3 TMED9 TPI1 TUSC3 TYMP UGCG UGT1A1 VCAM1 VCAN VTCN1 XPNPEP2	10020 100507436 1012 10135 10327 10457 1048 10558 10682 10715 10728 10825 10855 1087 1116 11164 1117 11332 120227 126129 126792 131 1312 142 143888 1462 146664 152831 1543 1545 1577 1588 1591 1594 1605 1634 1636 1646 170384 1718 1738 1743 1890 1892 1942 197257 2023 2026 2180 2194 220 2203 2208 221 2215 223 226 2271 22856 229 22925 22933 22934 23423 23583 23600 23659 23761 239 240 242 248 250 2517 2525 2526 2531 2538 2539 2571 2583 2590 2591 2597 26033 2619 2678 27087 2717 2719 27306 27349 2821 283358 284348 2876 2878 2923 2990 29956 3036 307 308 30835 3099 31 3161 3251 3291 3340 3383 34 3417 3425 353 3554 3613 3636 375790 3795 38 3821 3897 39 3939 3945 3948 3956 3958 3964 3965 3988 412 4191 4248 4249 43 4329 4360 4507 4594 4680 4684 47 4758 4907 4968 5048 5091 51179 51266 5130 51548 5162 5168 5169 5230 5236 5290 5291 5293 5294 5315 5319 5320 5329 5337 5338 54658 5471 54732 54898 5563 55750 55902 55907 55959 5621 5652 56848 56994 57103 57134 5716 57214 5728 5730 5740 5742 5743 58530 6319 6382 6385 6389 6390 6391 6392 6401 6402 6403 64083 6470 6483 6484 6514 6515 6517 6518 65258 6646 6652 684 7108 7167 729920 7357 7412 7512 762 7903 79158 79679 79888 7991 79944 79947 80723 811 81562 8277 8398 8434 84532 847 8473 8505 8630 8644 8790 8809 8821 8877 9104 912 929 9365 9514 952 9536 9562 960 9672 972 98	Homo sapiens (human)
DOID:4450	renal cell carcinoma Aliases: RCC adenocarcinoma of kidney hypernephroma	ABO ACACA ACADM ACAT1 ACAT2 ACE ACHE ACLY ACO2 ACOT7 ACSL1 ACSS1 ACSS2 ACYP2 ADH7 AKR1A1 AKR1C3 AKT1 ALDH3B1 ALDH6A1 ALDH9A1 ALDOA ALDOB ALOX12 ALOX12B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ATRNL1 B3GALT6 B3GAT1 B4GALNT1 BAD BST2 CA4 CALR CAT CD14 CD1D CD209 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHI3L1 CHI3L2 CHPT1 CHSY1 CLEC1B CMAS COMT CRPPA CYP11B1 CYP11B2 CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN DHCR24 DHDDS DLD DLST EBP ECHS1 EFNA1 ENO1 ENO2 ENPP2 ENPP3 FASN FBP1 FCGR3B FH FPGT FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GAPDH GAS1 GGT1 GLO1 GNE GNPTAB GOLPH3 GPC3 GPI GPNMB GPX1 GPX3 HAO2 HAS1 HK2 HMMR HPGDS HPSE HSD11B2 HSD17B6 ICAM1 IDH1 IDUA IL18R1 IMPA2 INPP4B KDSR KHK KL KLRC1 L1CAM L2HGDH LDHA LDHB LDHC LDHD LEP LGALS1 LGALS3 LGALS8 LGALS9 LIPA LMAN2L LPCAT1 LY6G6D LYPD5 MAN1C1 MCAT MDH2 ME1 MGAT3 MGAT5 MGAT5B MICA MINPP1 MMUT MPPE1 MRC1 MTAP NAMPT NDST1 NEU1 NEU3 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARP1 PCNA PDHB PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKD1 PKM PLA2G15 PLA2R1 PLAUR PLD1 PLD2 POGLUT3 PPAT PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGS1 PTGS2 RGN SCD SDC1 SDC3 SDHA SDHB SDHC SDHD SELE SELP SIRT2 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35G2 SMUG1 SOAT1 SORD SPHK1 SPTLC1 ST3GAL2 ST3GAL4 ST8SIA4 STS SULF2 TIGAR TM7SF2 TMED3 TMED9 TNF TP53 TUSC3 TYMP UGT1A1 UGT2B7 VCAM1 VCAN VTCN1 XPNPEP2	10020 100507436 1012 10135 10327 10457 1048 10558 10682 10825 10855 1087 1116 11164 1117 11332 120227 126792 131 1312 142 143888 1462 146664 1543 1545 1577 1584 1585 1586 1591 1594 1605 1634 1636 170384 1718 1738 1743 1890 1892 1942 197257 2023 2026 207 2180 2194 2203 221 2215 223 226 2271 22856 229 22925 22933 23423 23583 23600 23659 23761 239 240 242 248 250 2525 2526 2531 2538 2539 2571 2583 2590 2591 2597 26033 2619 2678 27087 2719 27306 27349 2739 28 2821 284348 2876 2878 2923 3036 307 308 30835 3099 31 3161 3291 3340 3383 34 3417 3425 353 3613 3795 38 3821 3897 39 3939 3945 3948 3952 3956 3958 3964 3965 3988 412 4191 4199 4248 4249 43 4329 4360 4507 4594 4680 47 4758 4907 4968 50 5048 5111 51179 51266 51548 5162 5168 5169 5230 5290 5291 5293 5294 5310 5315 5329 5337 5338 54658 5471 54732 5563 55902 55907 55959 5621 5652 56994 57103 57134 5716 572 57214 5728 5742 5743 58530 6319 6382 6389 6390 6391 6392 6401 6403 64083 6483 6484 6514 6515 6517 6518 65258 6646 6652 684 7108 7124 7157 729920 7364 7412 7512 762 7903 79158 79679 79888 7991 79944 79947 80723 811 81562 84532 847 8473 8630 8644 8790 8809 8821 8877 9104 912 929 9365 9514 952 9562 960 9672 972 98	Homo sapiens (human)
DOID:4467	clear cell renal cell carcinoma Aliases: Clear cell carcinoma of kidney clear cell kidney carcinoma conventional (Clear cell) renal cell carcinoma conventional renal cell carcinoma renal clear cell carcinoma	ABO ACACA ACADM ACAT1 ACAT2 ACE ACHE ACLY ACO2 ACOT7 ACSL1 ACSS1 ACSS2 ACYP2 ADH7 AKR1A1 AKR1C3 ALDH3B1 ALDH6A1 ALDH9A1 ALDOA ALDOB ALOX12 ALOX12B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ATRNL1 B3GALT6 B3GAT1 B4GALNT1 BST2 CA4 CALR CAT CD14 CD1D CD209 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHI3L1 CHI3L2 CHPT1 CHSY1 CLEC1B CMAS COMT CRPPA CYP11B1 CYP11B2 CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN DHCR24 DHDDS DLD DLST EBP ECHS1 EFNA1 ENO1 ENO2 ENPP2 ENPP3 FASN FBP1 FCGR3B FH FPGT FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GAPDH GAS1 GGT1 GLO1 GNE GNPTAB GOLPH3 GPC3 GPI GPNMB GPX1 GPX3 HAO2 HAS1 HK2 HMMR HPGDS HPSE HSD11B2 HSD17B6 ICAM1 IDH1 IDUA IL18R1 IMPA2 INPP4B KDSR KHK KL KLRC1 L1CAM L2HGDH LDHA LDHB LDHC LDHD LGALS1 LGALS3 LGALS8 LGALS9 LIPA LMAN2L LPCAT1 LY6G6D LYPD5 MAN1C1 MCAT MDH2 ME1 MGAT3 MGAT5 MGAT5B MICA MINPP1 MMUT MPPE1 MRC1 MTAP NAMPT NDST1 NEU1 NEU3 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARP1 PDHB PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKD1 PKM PLA2G15 PLA2R1 PLAUR PLD1 PLD2 POGLUT3 PPAT PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGS1 PTGS2 RGN SCD SDC1 SDC3 SDHA SDHB SDHC SDHD SELE SELP SIRT2 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35G2 SMUG1 SOAT1 SORD SPHK1 SPTLC1 ST3GAL2 ST3GAL4 ST8SIA4 STS SULF2 TIGAR TM7SF2 TMED3 TMED9 TP53 TUSC3 TYMP UGT1A1 UGT2B7 VCAM1 VCAN VTCN1 XPNPEP2	10020 100507436 1012 10135 10327 10457 1048 10558 10682 10825 10855 1087 1116 11164 1117 11332 120227 126792 131 1312 142 143888 1462 146664 1543 1545 1577 1584 1585 1586 1591 1594 1605 1634 1636 170384 1718 1738 1743 1890 1892 1942 197257 2023 2026 2180 2194 2203 221 2215 223 226 2271 22856 229 22925 22933 23423 23583 23600 23659 23761 239 240 242 248 250 2525 2526 2531 2538 2539 2571 2583 2590 2591 2597 26033 2619 2678 27087 2719 27306 27349 2739 28 2821 284348 2876 2878 2923 3036 307 308 30835 3099 31 3161 3291 3340 3383 34 3417 3425 353 3613 3795 38 3821 3897 39 3939 3945 3948 3956 3958 3964 3965 3988 412 4191 4199 4248 4249 43 4329 4360 4507 4594 4680 47 4758 4907 4968 50 5048 51179 51266 51548 5162 5168 5169 5230 5290 5291 5293 5294 5310 5315 5329 5337 5338 54658 5471 54732 5563 55902 55907 55959 5621 5652 56994 57103 57134 5716 57214 5728 5742 5743 58530 6319 6382 6389 6390 6391 6392 6401 6403 64083 6483 6484 6514 6515 6517 6518 65258 6646 6652 684 7108 7157 729920 7364 7412 7512 762 7903 79158 79679 79888 7991 79944 79947 80723 811 81562 84532 847 8473 8630 8644 8790 8809 8821 8877 9104 912 929 9365 9514 952 9562 960 9672 972 98	Homo sapiens (human)
DOID:4451	renal carcinoma Aliases: carcinoma of kidney kidney carcinoma	ABO ACACA ACADM ACAT1 ACAT2 ACE ACHE ACLY ACO2 ACOT7 ACSL1 ACSS1 ACSS2 ACYP2 ADH7 AKR1A1 AKR1C3 ALDH3B1 ALDH6A1 ALDH9A1 ALDOA ALDOB ALOX12 ALOX12B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ATRNL1 B3GALT6 B3GAT1 B4GALNT1 BST2 CA4 CALR CAT CD14 CD1D CD209 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHI3L1 CHI3L2 CHPT1 CHSY1 CLEC1B CMAS COMT CRPPA CYP11B1 CYP11B2 CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN DHDDS DLD DLST EBP ECHS1 EFNA1 ENO1 ENO2 ENPP2 ENPP3 FASN FBP1 FCGR3B FH FPGT FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GAPDH GAS1 GGT1 GLO1 GNE GNPTAB GOLPH3 GPC3 GPI GPNMB GPX1 GPX3 HAO2 HAS1 HK2 HMMR HPGDS HPSE HSD11B2 HSD17B6 ICAM1 IDH1 IDUA IL18R1 IMPA2 INPP4B KDSR KHK KL KLRC1 L1CAM L2HGDH LDHA LDHB LDHC LDHD LGALS1 LGALS3 LGALS8 LGALS9 LIPA LMAN2L LPCAT1 LY6G6D LYPD5 MAN1C1 MCAT MDH2 ME1 MGAT5 MGAT5B MICA MMUT MRC1 MTAP NAMPT NDST1 NEU1 NEU3 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARP1 PDHB PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKD1 PKM PLA2G15 PLA2R1 PLAUR PLD1 PLD2 POGLUT3 PPAT PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGS1 PTGS2 RGN SCD SDC3 SDHA SDHB SDHC SDHD SELE SELP SIRT2 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35G2 SMUG1 SOAT1 SORD SPHK1 SPTLC1 ST3GAL2 ST3GAL4 ST8SIA4 STS SULF2 TIGAR TM7SF2 TMED3 TMED9 TUSC3 TYMP UGT1A1 UGT2B7 VCAM1 VCAN VTCN1 XPNPEP2	10020 100507436 1012 10135 10327 10457 1048 10558 10682 10825 10855 1087 1116 11164 1117 11332 120227 126792 131 1312 142 143888 1462 146664 1543 1545 1577 1584 1585 1586 1591 1594 1605 1634 1636 170384 1738 1743 1890 1892 1942 197257 2023 2026 2180 2194 2203 221 2215 223 226 2271 22856 229 22925 22933 23423 23583 23600 23659 23761 239 240 242 248 250 2525 2526 2531 2538 2539 2571 2583 2590 2591 2597 26033 2619 2678 27087 2719 27306 27349 2739 28 2821 284348 2876 2878 2923 3036 307 308 30835 3099 31 3161 3291 3340 3383 34 3417 3425 353 3613 3795 38 3821 3897 39 3939 3945 3948 3956 3958 3964 3965 3988 412 4191 4199 4249 43 4329 4360 4507 4594 4680 47 4758 4907 4968 50 5048 51179 51266 51548 5162 5168 5169 5230 5290 5291 5293 5294 5310 5315 5329 5337 5338 54658 5471 54732 5563 55902 55907 55959 5621 5652 56994 57103 57134 5716 57214 5728 5742 5743 58530 6319 6389 6390 6391 6392 6401 6403 64083 6483 6484 6514 6515 6517 6518 6646 6652 684 7108 729920 7364 7412 7512 762 7903 79158 79679 79888 7991 79944 79947 80723 811 81562 84532 847 8473 8630 8644 8790 8809 8821 8877 9104 912 929 9365 9514 952 960 9672 972 98	Homo sapiens (human)
DOID:4471	chromophobe renal cell carcinoma Aliases: Chromophobe carcinoma of kidney chromophobe adenocarcinoma kidney chromophobe renal cell carcinoma, chromophobe cell	ACACA ACADM ACAT1 ACAT2 ACE ACHE ACLY ACOT7 ACSL1 ACSS1 ACSS2 ACYP2 ADH7 AKR1A1 AKR1C3 ALDH3B1 ALDH6A1 ALDH9A1 ALDOA ALDOB ALOX12 ALOX12B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ATRNL1 B3GALT6 B3GAT1 B4GALNT1 BST2 CA4 CALR CAT CD14 CD1D CD209 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHI3L1 CHI3L2 CHPT1 CHSY1 CLEC1B CMAS COMT CRPPA CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN DHCR24 DHDDS DLD DLST EBP ECHS1 EFNA1 ENO1 ENO2 ENPP2 ENPP3 FBP1 FCGR3B FH FPGT FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GAPDH GAS1 GGT1 GNE GNPTAB GOLPH3 GPC3 GPI GPNMB GPX1 GPX3 HAO2 HAS1 HK2 HMMR HPGDS HPSE HSD11B2 HSD17B6 ICAM1 IDH1 IDUA IL18R1 IMPA2 INPP4B KDSR KHK KL KLRC1 L1CAM L2HGDH LDHA LDHB LDHC LDHD LGALS1 LGALS3 LGALS8 LGALS9 LIPA LMAN2L LPCAT1 LY6G6D LYPD5 MAN1C1 MCAT MDH2 MGAT3 MGAT5 MGAT5B MICA MINPP1 MMUT MPPE1 MRC1 MTAP NAMPT NDST1 NEU1 NEU3 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARP1 PDHB PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKM PLA2G15 PLA2R1 PLAUR PLD1 PLD2 POGLUT3 PPAT PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGS1 PTGS2 RGN SCD SDC1 SDC3 SDHA SDHB SDHC SDHD SELE SELP SIRT2 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35G2 SMUG1 SOAT1 SORD SPHK1 SPTLC1 ST3GAL2 ST3GAL4 ST8SIA4 STS SULF2 TIGAR TM7SF2 TMED3 TMED9 TUSC3 TYMP UGT1A1 VCAM1 VCAN VTCN1 XPNPEP2	10020 100507436 1012 10135 10327 10457 1048 10558 10682 10825 10855 1087 1116 11164 1117 11332 120227 126792 131 1312 142 143888 1462 146664 1543 1545 1577 1591 1594 1605 1634 1636 170384 1718 1738 1743 1890 1892 1942 197257 2023 2026 2180 2203 221 2215 223 226 2271 22856 229 22925 22933 23423 23583 23600 23659 23761 239 240 242 248 250 2525 2526 2531 2538 2539 2571 2583 2590 2591 2597 26033 2619 2678 27087 2719 27306 27349 2821 284348 2876 2878 2923 3036 307 308 30835 3099 31 3161 3291 3340 3383 34 3417 3425 353 3613 3795 38 3821 3897 39 3939 3945 3948 3956 3958 3964 3965 3988 412 4191 4248 4249 43 4329 4360 4507 4594 4680 47 4758 4907 4968 5048 51179 51266 51548 5162 5168 5169 5230 5290 5291 5293 5294 5315 5329 5337 5338 54658 5471 54732 5563 55902 55907 55959 5621 5652 56994 57103 57134 5716 57214 5728 5742 5743 58530 6319 6382 6389 6390 6391 6392 6401 6403 64083 6483 6484 6514 6515 6517 6518 65258 6646 6652 684 7108 729920 7412 7512 762 7903 79158 79679 79888 7991 79944 79947 80723 811 81562 84532 847 8473 8630 8644 8790 8809 8821 8877 9104 912 929 9365 9514 952 9562 960 9672 972 98	Homo sapiens (human)
DOID:4473	sarcomatoid renal cell carcinoma Aliases: renal cell carcinoma, spindle cell	ACACA ACADM ACAT1 ACAT2 ACE ACHE ACLY ACOT7 ACSL1 ACSS1 ACSS2 ACYP2 ADH7 AKR1A1 AKR1C3 ALDH3B1 ALDH6A1 ALDH9A1 ALDOA ALDOB ALOX12 ALOX12B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ATRNL1 B3GALT6 B3GAT1 B4GALNT1 BST2 CA4 CALR CAT CD14 CD1D CD209 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHI3L1 CHI3L2 CHPT1 CHSY1 CLEC1B CMAS COMT CRPPA CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN DHCR24 DHDDS DLD DLST EBP ECHS1 EFNA1 ENO1 ENO2 ENPP2 ENPP3 FBP1 FCGR3B FH FPGT FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GAPDH GAS1 GGT1 GNE GNPTAB GOLPH3 GPC3 GPI GPNMB GPX1 GPX3 HAO2 HAS1 HK2 HMMR HPGDS HPSE HSD11B2 HSD17B6 ICAM1 IDH1 IDUA IL18R1 IMPA2 INPP4B KDSR KHK KL KLRC1 L1CAM L2HGDH LDHA LDHB LDHC LDHD LGALS1 LGALS3 LGALS8 LGALS9 LIPA LMAN2L LPCAT1 LY6G6D LYPD5 MAN1C1 MCAT MDH2 MGAT3 MGAT5 MGAT5B MICA MINPP1 MMUT MPPE1 MRC1 MTAP NAMPT NDST1 NEU1 NEU3 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARP1 PDHB PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKM PLA2G15 PLA2R1 PLAUR PLD1 PLD2 POGLUT3 PPAT PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGS1 PTGS2 RGN SCD SDC1 SDC3 SDHA SDHB SDHC SDHD SELE SELP SIRT2 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35G2 SMUG1 SOAT1 SORD SPHK1 SPTLC1 ST3GAL2 ST3GAL4 ST8SIA4 STS SULF2 TIGAR TM7SF2 TMED3 TMED9 TUSC3 TYMP UGT1A1 VCAM1 VCAN VTCN1 XPNPEP2	10020 100507436 1012 10135 10327 10457 1048 10558 10682 10825 10855 1087 1116 11164 1117 11332 120227 126792 131 1312 142 143888 1462 146664 1543 1545 1577 1591 1594 1605 1634 1636 170384 1718 1738 1743 1890 1892 1942 197257 2023 2026 2180 2203 221 2215 223 226 2271 22856 229 22925 22933 23423 23583 23600 23659 23761 239 240 242 248 250 2525 2526 2531 2538 2539 2571 2583 2590 2591 2597 26033 2619 2678 27087 2719 27306 27349 2821 284348 2876 2878 2923 3036 307 308 30835 3099 31 3161 3291 3340 3383 34 3417 3425 353 3613 3795 38 3821 3897 39 3939 3945 3948 3956 3958 3964 3965 3988 412 4191 4248 4249 43 4329 4360 4507 4594 4680 47 4758 4907 4968 5048 51179 51266 51548 5162 5168 5169 5230 5290 5291 5293 5294 5315 5329 5337 5338 54658 5471 54732 5563 55902 55907 55959 5621 5652 56994 57103 57134 5716 57214 5728 5742 5743 58530 6319 6382 6389 6390 6391 6392 6401 6403 64083 6483 6484 6514 6515 6517 6518 65258 6646 6652 684 7108 729920 7412 7512 762 7903 79158 79679 79888 7991 79944 79947 80723 811 81562 84532 847 8473 8630 8644 8790 8809 8821 8877 9104 912 929 9365 9514 952 9562 960 9672 972 98	Homo sapiens (human)
DOID:4464	collecting duct carcinoma Aliases: carcinoma of renal Collecting duct renal Medullary carcinoma renal carcinoma, collecting duct type	ACACA ACADM ACAT1 ACAT2 ACE ACHE ACLY ACOT7 ACSL1 ACSS1 ACSS2 ACYP2 ADH7 AKR1A1 AKR1C3 ALDH3B1 ALDH6A1 ALDH9A1 ALDOA ALDOB ALOX12 ALOX12B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ATRNL1 B3GALT6 B3GAT1 B4GALNT1 BST2 CA4 CALR CAT CD14 CD1D CD209 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHI3L1 CHI3L2 CHPT1 CHSY1 CLEC1B CMAS COMT CRPPA CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN DHCR24 DHDDS DLD DLST EBP ECHS1 EFNA1 ENO1 ENO2 ENPP2 ENPP3 FBP1 FCGR3B FH FPGT FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GAPDH GAS1 GGT1 GNE GNPTAB GOLPH3 GPC3 GPI GPNMB GPX1 GPX3 HAO2 HAS1 HK2 HMMR HPGDS HPSE HSD11B2 HSD17B6 ICAM1 IDH1 IDUA IL18R1 IMPA2 INPP4B KDSR KHK KL KLRC1 L1CAM L2HGDH LDHA LDHB LDHC LDHD LGALS1 LGALS3 LGALS8 LGALS9 LIPA LMAN2L LPCAT1 LY6G6D LYPD5 MAN1C1 MCAT MDH2 MGAT3 MGAT5 MGAT5B MICA MINPP1 MMUT MPPE1 MRC1 MTAP NAMPT NDST1 NEU1 NEU3 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARP1 PDHB PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKM PLA2G15 PLA2R1 PLAUR PLD1 PLD2 POGLUT3 PPAT PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGS1 PTGS2 RGN SCD SDC1 SDC3 SDHA SDHB SDHC SDHD SELE SELP SIRT2 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35G2 SMUG1 SOAT1 SORD SPHK1 SPTLC1 ST3GAL2 ST3GAL4 ST8SIA4 STS SULF2 TIGAR TM7SF2 TMED3 TMED9 TUSC3 TYMP UGT1A1 VCAM1 VCAN VTCN1 XPNPEP2	10020 100507436 1012 10135 10327 10457 1048 10558 10682 10825 10855 1087 1116 11164 1117 11332 120227 126792 131 1312 142 143888 1462 146664 1543 1545 1577 1591 1594 1605 1634 1636 170384 1718 1738 1743 1890 1892 1942 197257 2023 2026 2180 2203 221 2215 223 226 2271 22856 229 22925 22933 23423 23583 23600 23659 23761 239 240 242 248 250 2525 2526 2531 2538 2539 2571 2583 2590 2591 2597 26033 2619 2678 27087 2719 27306 27349 2821 284348 2876 2878 2923 3036 307 308 30835 3099 31 3161 3291 3340 3383 34 3417 3425 353 3613 3795 38 3821 3897 39 3939 3945 3948 3956 3958 3964 3965 3988 412 4191 4248 4249 43 4329 4360 4507 4594 4680 47 4758 4907 4968 5048 51179 51266 51548 5162 5168 5169 5230 5290 5291 5293 5294 5315 5329 5337 5338 54658 5471 54732 5563 55902 55907 55959 5621 5652 56994 57103 57134 5716 57214 5728 5742 5743 58530 6319 6382 6389 6390 6391 6392 6401 6403 64083 6483 6484 6514 6515 6517 6518 65258 6646 6652 684 7108 729920 7412 7512 762 7903 79158 79679 79888 7991 79944 79947 80723 811 81562 84532 847 8473 8630 8644 8790 8809 8821 8877 9104 912 929 9365 9514 952 9562 960 9672 972 98	Homo sapiens (human)
DOID:0050387	nonpapillary renal cell carcinoma	ACACA ACADM ACAT1 ACE ACHE ACLY ACOT7 ACSL1 ACSS2 ADH7 AKR1A1 AKR1C3 ALDH6A1 ALDH9A1 ALDOA ALDOB ALOX12 ALOX12B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ATRNL1 B3GALT6 B3GAT1 B4GALNT1 BST2 CA4 CALR CAT CD14 CD1D CD209 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEMIP CHI3L1 CHSY1 CLEC1B CMAS CRPPA CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN EBP ECHS1 EFNA1 ENO1 ENO2 ENPP2 FBP1 FCGR3B FH FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GAPDH GAS1 GGT1 GNE GNPTAB GOLPH3 GPC3 GPI GPNMB GPX1 GPX3 HAO2 HAS1 HK2 HMMR HPGDS HPSE HSD17B6 ICAM1 IDH1 IDUA IL18R1 IMPA2 INPP4B KDSR KHK KL KLRC1 L1CAM L2HGDH LDHA LDHB LDHC LDHD LGALS1 LGALS3 LGALS8 LGALS9 LIPA LMAN2L LPCAT1 LY6G6D LYPD5 MAN1C1 MCAT MGAT5 MGAT5B MICA MMUT MRC1 MTAP NAMPT NDST1 NEU1 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARP1 PDHB PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKM PLA2G15 PLA2R1 PLAUR PLD1 PLD2 PRKAA2 PSMD10 PTEN PTGS1 PTGS2 RGN SCD SDC3 SDHA SDHB SDHC SDHD SELE SELP SIRT2 SIRT6 SLC2A4 SLC2A5 SMUG1 SORD SPHK1 SPTLC1 ST3GAL2 ST3GAL4 ST8SIA4 STS SULF2 TIGAR TM7SF2 TMED3 TMED9 TUSC3 TYMP UGT1A1 VCAM1 VCAN VTCN1 XPNPEP2	10020 100507436 1012 10135 10327 10457 1048 10558 10682 10855 1116 11164 11332 120227 126792 131 142 1462 146664 1543 1545 1577 1591 1594 1605 1634 1636 170384 1890 1892 1942 197257 2023 2026 2180 2203 2215 223 226 2271 22856 229 22925 22933 23423 23583 23600 23659 23761 239 240 242 248 250 2525 2526 2531 2538 2539 2571 2583 2597 26033 2619 2678 27087 2719 27306 27349 2821 284348 2876 2878 2923 3036 307 308 30835 3099 31 3161 3340 3383 34 3417 3425 353 3613 3795 38 3821 3897 3939 3945 3948 3956 3958 3964 3965 3988 412 4249 43 4329 4360 4507 4594 4680 47 4758 4907 4968 5048 51179 51266 51548 5162 5168 5230 5290 5291 5293 5294 5315 5329 5337 5338 54658 54732 5563 55902 55907 55959 57103 57134 5716 57214 5728 5742 5743 58530 6319 6389 6390 6391 6392 6401 6403 64083 6483 6484 6517 6518 6652 684 7108 729920 7412 7512 762 7903 79158 79679 79888 7991 79944 811 81562 847 8473 8630 8644 8809 8821 8877 9104 912 929 9365 9514 952 960 9672 972	Homo sapiens (human)
DOID:11832	visual epilepsy Aliases: epilepsy, visual	ABAT ABO ACACA ACADM ACADS ACADSB ACAT1 ACE ACHE ACO2 ACOT7 ACOX1 ACSL4 ACSM3 ADPRS AGA AGPS AGRN ALDH3A2 ALDH5A1 ALDH7A1 ALDOB ALG11 ALG13 ALG1 ALG2 ALG3 ALG6 ALG9 ALPL AMACR AMT APEX1 ARSA ARSD ATP6AP2 ATP6V0A2 ATP6V1A B3GALNT2 B3GLCT BAD BCKDHA BCKDHB CAT CD38 CD44 CERS1 CHAT CLEC7A CLN5 CNTN2 CNTN4 COG2 COG5 COG6 COG8 COLGALT1 COMT CPT1A CPT2 CRPPA CTSA CYB5R3 CYP11A1 CYP1A1 CYP1A2 CYP27A1 CYP2C19 CYP2E1 CYP3A4 CYP4F3 DAG1 DBT DDOST DEGS1 DGCR2 DGKD DGKE DHCR24 DHDDS DLD DPAGT1 EBP ECHS1 ELOVL4 ENO2 EOGT EXT1 EXT2 FBP1 FCSK FDFT1 FH FKRP FKTN FUCA1 FUT8 G6PC1 G6PD GAD1 GAD2 GALC GAS1 GCDH GCK GCSH GLA GLB1 GLDC GLO1 GLUL GLYCTK GM2A GMPPA GMPPB GNE GNS GPAA1 GPC1 GPC3 GYS1 GYS2 HADHA HADHB HEXA HEXB HGSNAT HIBCH HMGCL HMGCS2 HPGDS HPRT1 HS6ST1 HSD17B4 ICAM1 IDH1 IDH2 IDS IL1RAPL1 IL6ST IMPA1 INPP5E ISYNA1 KCNJ11 L2HGDH LARGE1 LGALS3 LMAN2L LSS MAN1B1 MANBA MBL2 MBOAT7 MCAT MDH2 ME1 MGAT1 MGAT2 MGLL MICA MLYCD MMUT MOGS MPI MRC1 MTM1 MYORG NAGA NAGLU NDST1 NEU1 NGLY1 NPL NPY1R NRN1L NSDHL NT5E NTNG1 OCRL OGA PAFAH1B1 PC PCCA PCCB PCK1 PCYT1A PDHA1 PDHX PDIA3 PGAP1 PGAP2 PGAP3 PGK1 PGM3 PIGA PIGB PIGC PIGG PIGH PIGL PIGM PIGN PIGO PIGP PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLCB1 PLCG1 PLD1 PLD2 PMM2 PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPT1 PRNP PRPS1 PSAP PSMD10 PTEN PTGES PTGS1 PTGS2 REG3G RFT1 RGMA RPIA RXYLT1 SACM1L SC5D SDHA SDHC SDHD SEMA7A SGPL1 SGSH SLC17A5 SLC2A3 SLC33A1 SLC35A1 SLC35A2 SLC35A3 SLC39A8 SLC3A1 SMC3 SMUG1 SRD5A3 ST3GAL3 ST3GAL5 STS STT3A STT3B SUCLA2 SUCLG1 SUMF1 SYNJ1 TECR TGDS TMED9 TMTC3 TNF TPI1 TUSC3 UGCG UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B7 UGT8	10020 100507436 10159 10195 10329 10466 10559 10585 10682 10715 10724 10908 1103 11141 11253 11332 11343 1203 123904 128869 130120 1312 132158 1374 1376 138050 145173 148789 152330 1543 1544 1557 1571 1576 1583 1593 160418 1605 1629 1636 1650 1718 1727 1738 175 1798 18 1892 197258 201595 2026 2131 2132 2182 2203 2218 2222 224 2271 22796 22854 229 22908 22934 23236 23417 23443 23483 23545 23556 23583 23600 249 2517 2530 2538 2539 2571 2572 2581 2619 26275 2639 2645 26503 2653 2717 2719 2720 27306 2731 27315 27349 2739 275 2752 2760 2799 28 2817 284098 285203 285362 2923 29925 29926 29929 29954 2997 2998 3030 3032 3073 3074 31 3155 3158 3251 328 3295 3340 3383 34 3417 3418 3423 35 3572 36 3612 3703 375790 3767 38 3958 4047 4051 410 412 4126 414 4153 4191 4199 4245 4247 43 4351 4360 440138 4534 4594 4668 4669 4758 4886 4907 4952 50 501 5048 50814 5091 5095 5096 51 5105 51227 5130 51477 5160 51604 523 5230 5238 5277 5279 5283 5290 5291 5293 5294 5310 5319 5320 5321 5329 5335 5337 5338 5373 54575 54576 54577 54578 54579 54600 54657 54658 54659 54732 5476 54872 54936 5538 55624 55650 55768 56052 5621 5631 5660 56623 56886 56963 5716 572 5728 5742 5743 57462 57511 593 594 6296 6309 6389 6391 6392 64116 6448 64581 6487 6515 6519 6785 6900 7124 7167 729920 7355 7357 7364 7368 7841 79143 79147 7915 79644 79709 79796 79868 7991 79944 79947 80055 8050 80896 81562 8398 8399 84197 84342 847 84720 8482 84892 84992 8526 8527 85365 8540 8560 8733 8802 8803 8867 8869 8879 9091 9126 91869 9197 9215 93183 93210 9394 94005 9487 9488 952 9524 9536 960 9993	Homo sapiens (human)
DOID:1826	epilepsy Aliases: epilepsy syndrome epileptic syndrome	ABAT ABO ACADM ACADS ACADSB ACAT1 ACE ACHE ACO2 ACOT7 ACOX1 ACSM3 ADPRS AGA AGPS AGRN AKR1C3 ALDH3A2 ALDH5A1 ALDH6A1 ALDH7A1 ALDOB ALG11 ALG13 ALG1 ALG2 ALG3 ALG6 ALG9 ALOX15 ALPL AMACR AMT APRT ARSA ARSD ASAH1 ATP1A2 ATP6AP2 ATP6V0A2 ATP6V1A B3GALNT2 B3GLCT BCKDHA BCKDHB CACNA2D1 CACNA2D2 CAT CD38 CD44 CHAT CHI3L1 CHKA CHKB CLC CLEC7A CLN5 CNTN2 CNTN4 CNTN6 COG2 COG5 COG6 COG8 COLGALT1 COMT CPT1A CPT2 CRPPA CTSA CYB5R3 CYP11A1 CYP19A1 CYP1A1 CYP1A2 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP3A5 CYP4F3 DAG1 DBT DDOST DEGS1 DGCR2 DGKD DGKE DHCR24 DHDDS DLD DPAGT1 DPM2 EBP ECHS1 ELOVL4 ENO2 EOGT EPM2A ETNK1 ETNK2 EXT1 EXT2 FBP1 FCSK FDFT1 FH FIG4 FKRP FKTN FOLR1 FUCA1 FUT8 G6PC1 G6PD GAD1 GAD2 GALC GAPDH GAS1 GCDH GCK GCSH GLA GLB1 GLDC GLO1 GLUL GLYCTK GM2A GMPPA GMPPB GNE GNS GPAA1 GPC1 GPC3 GPX1 GYS2 HACD1 HADHA HADHB HEXA HEXB HGSNAT HIBCH HK1 HMGCL HMGCS2 HPGDS HPRT1 HS6ST1 HSD17B4 HSPG2 ICAM1 IDH1 IDH2 IDS IMPA1 INPP5E INPP5K ISYNA1 KL L1CAM L2HGDH LARGE1 LGALS3 LMAN2L LPL LSS MAN1B1 MANBA MBL2 MBOAT7 MCAT MDH2 ME1 ME2 MGAT1 MGAT2 MGLL MICA MLYCD MMUT MOGS MPI MRC1 MTM1 MYORG NAGA NAGLU NANS NDST1 NEU1 NGLY1 NPL NRN1L NSDHL NT5E NTNG1 OCRL OGA PAFAH1B1 PARP1 PC PCCA PCCB PCK1 PCYT1A PDHA1 PDHX PDIA3 PGAP1 PGAP3 PGK1 PGM3 PIGA PIGB PIGC PIGG PIGH PIGL PIGM PIGN PIGP PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLCB1 PLCG1 PLD1 PLD2 PMM2 PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPT1 PRNP PRPS1 PSAP PSMD10 PTEN PTGES PTGS1 PTGS2 RECK RFT1 RGMA RPIA RXYLT1 SACM1L SC5D SDHA SDHC SDHD SEMA7A SGPL1 SGSH SHMT1 SIGLEC7 SLC17A5 SLC2A3 SLC33A1 SLC35A1 SLC35A2 SLC35A3 SLC35F1 SLC35G1 SLC39A8 SLC3A1 SMC3 SMUG1 SRD5A3 ST3GAL3 ST8SIA2 STS STT3B SUCLA2 SUCLG1 SUMF1 SYNJ1 TECR TGDS TIGAR TMED9 TMTC3 TNF TPI1 TUSC3 UGCG UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B15 UGT2B7 UGT8 VCAM1	10020 100507436 10159 10195 10329 10466 10559 10585 10682 10724 10908 1103 1116 1119 1120 11253 11332 11343 1178 1203 123904 128869 1312 132158 1374 1376 138050 142 145173 148789 152330 1543 1544 1555 1557 1559 1571 1576 1577 1583 1588 1593 159371 160418 1605 1629 1636 1650 1718 1727 1738 175 1798 18 1892 197258 201595 2026 2131 2132 2203 2218 2222 222553 224 2271 22796 22854 229 22908 22934 23236 23417 23443 2348 23483 23545 23556 23583 23600 246 249 2517 2530 2538 2539 2571 2572 2581 2597 2619 26275 2639 2645 26503 2653 27036 2717 2719 2720 27255 27306 2731 27349 2739 275 2752 2760 2799 28 2817 284098 285203 285362 2876 2923 29925 29926 29929 29954 2998 3030 3032 3073 3074 3098 3155 3158 3251 3295 3339 3340 3383 34 3417 3418 3423 35 353 36 3612 375790 38 3897 3958 4023 4047 4051 410 412 4126 414 4153 4191 4199 4200 4245 4247 427 43 4329 4351 4360 440138 4534 4594 4668 4669 4758 477 4907 4952 50 501 5048 50814 5091 5095 5096 51 5105 51227 5130 51477 5160 51604 51763 523 5230 5238 5277 5279 5283 5290 5291 5293 5294 5310 5319 5320 5321 5329 5335 5337 5338 5373 54187 54575 54576 54577 54578 54579 54600 54657 54658 54659 54732 5476 54872 54936 55224 5538 55500 55624 55650 55768 56052 5621 5631 5660 56623 56886 56963 57103 5716 5728 5742 5743 57462 57511 593 594 6296 6309 6389 6391 6392 64116 6448 64581 6470 6487 6515 6519 6785 6900 7124 7167 729920 7355 7357 7364 7366 7368 7412 781 7841 79143 79147 7915 7957 79644 79709 79796 79868 7991 79944 79947 80055 8050 80896 8128 81562 8398 8399 84197 8434 84342 847 8482 84892 84992 8526 8527 85365 8540 8560 8644 8733 8802 8803 8818 8867 8879 9091 9126 91869 9197 9200 9215 9254 93183 93210 9365 9394 94005 9487 9488 952 9524 9536 960 9896 9993	Homo sapiens (human)
DOID:11755	choledocholithiasis	ACAT2 ACSS2 ALDOA BPGM CAT COMT CYP17A1 CYP27A1 CYP7A1 CYP8B1 DPEP1 G6PD GNE GPX1 GPX3 GUSB HK1 MICA OGG1 PFKM PKLR PLA2G10 PLA2G15 PLA2G2A PNPLA3 PTGS2 SLC35A2 SMPD1 SMUG1 ST8SIA4 SULT1E1 TPI1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	10020 100507436 1312 1581 1582 1586 1593 1800 226 23583 23659 2539 2876 2878 2990 3098 39 4968 5213 5313 5320 54575 54576 54577 54578 54579 54600 54657 54658 54659 55902 56886 5743 6609 669 6783 7167 7355 7903 80339 8399 847	Homo sapiens (human)
DOID:10211	cholelithiasis	ACAT2 ACSS2 ALDOA BPGM CAT COMT CYP17A1 CYP27A1 CYP7A1 CYP8B1 DPEP1 G6PD GNE GPX1 GPX3 GUSB HK1 MICA OGG1 PFKM PKLR PLA2G10 PLA2G15 PLA2G2A PNPLA3 PTGS2 SLC35A2 SMPD1 SMUG1 ST8SIA4 SULT1E1 TPI1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	10020 100507436 1312 1581 1582 1586 1593 1800 226 23583 23659 2539 2876 2878 2990 3098 39 4968 5213 5313 5320 54575 54576 54577 54578 54579 54600 54657 54658 54659 55902 56886 5743 6609 669 6783 7167 7355 7903 80339 8399 847	Homo sapiens (human)
DOID:11151	cholecystolithiasis	ACAT2 ACSS2 ALDOA BPGM CAT COMT CYP17A1 CYP27A1 CYP7A1 CYP8B1 DPEP1 G6PD GNE GPX1 GPX3 GUSB HK1 MICA OGG1 PFKM PKLR PLA2G10 PLA2G15 PLA2G2A PNPLA3 PTGS2 SLC35A2 SMPD1 SMUG1 ST8SIA4 SULT1E1 TPI1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	10020 100507436 1312 1581 1582 1586 1593 1800 226 23583 23659 2539 2876 2878 2990 3098 39 4968 5213 5313 5320 54575 54576 54577 54578 54579 54600 54657 54658 54659 55902 56886 5743 6609 669 6783 7167 7355 7903 80339 8399 847	Homo sapiens (human)
DOID:1094	attention deficit hyperactivity disorder Aliases: ADHD attention deficit disorder hyperkinetic disorder	ACACA ACSL4 AGA ALDH2 ALG13 APRT ARSD ATP6V1A B4GALT2 CD38 CDH13 CHPT1 CNTFR CNTN1 CNTN5 CNTN6 COMT CPT2 CYP2B6 CYP3A4 CYP4F3 DGKH DHDDS FADS1 FADS2 GAD1 GNE GNPAT GPC6 HK1 HPRT1 HSPG2 IL1RAPL1 LGALS3 LMAN2L MAN2A2 MANBA MBOAT7 NANS NCAM1 NCAN NTM OCRL PC PI4K2B PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGDS SCD SDHA SDHD SLC2A3 SLC39A8 SMC3 SMPD1 SMUG1 ST3GAL3 STS STT3A SYNJ1 THEM4 UST	10020 10082 10090 1012 11141 117145 1271 1272 1312 1376 1463 1555 1576 160851 175 217 2182 23583 2571 27255 3098 31 3251 3339 353 3703 3958 3992 4051 412 4122 4126 414 4684 4952 50863 5091 523 5290 5291 5293 5294 53942 54187 55300 5621 56994 5728 5730 6319 6389 6392 64116 6487 6515 6609 79143 79868 79947 81562 8443 8704 8867 9126 9415 952	Homo sapiens (human)
DOID:0050328	congenital hypothyroidism	ACE ACHE ALG8 ANXA5 ARSA ASAH1 B3GLCT BAAT CAT CDH13 COMT CPT1C CYP19A1 CYP2B6 EFNA5 ENO2 ENPP1 EXT2 FADS2 FASN FUCA1 G6PD GAS1 GLUL GNE GPC1 GPX1 HJV HSD17B3 HSD3B1 INPP5B L1CAM LGALS3 LIPC MBL2 MPDU1 NCAM1 PIK3C2A PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLOD3 PMM2 PNPLA3 PPARGC1A PRKAA2 PTEN PTGS2 SGPL1 SLC2A12 SLC2A3 SLC2A8 SMUG1 SRD5A1 SRD5A3	10020 1012 10891 126129 1312 145173 148738 154091 1555 1588 1636 1946 2026 2132 2194 23583 2517 2539 2619 2752 2817 2876 29988 308 3283 3293 3633 3897 3958 3990 410 4153 427 43 4684 5167 5286 5289 5290 5291 5293 5294 5320 5373 5563 570 5728 5743 6515 6715 79053 79644 80339 847 8879 8985 9415 9526	Homo sapiens (human)
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	ACE ACHE ALG8 ANXA5 ARSA ASAH1 B3GLCT BAAT BAD CAT CDH13 COMT CPT1C CS CYP19A1 CYP2B6 EFNA5 ENO2 ENPP1 EXT2 FADS2 FASN FUCA1 G6PD GAS1 GLUL GNE GPC1 GPX1 HJV HSD17B3 HSD3B1 INPP5B L1CAM LGALS3 LIPC MBL2 MPDU1 NCAM1 NR1D1 PCNA PHKA1 PIK3C2A PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLOD3 PMM2 PNPLA3 PRKAA2 PTEN PTGS2 SGPL1 SLC2A12 SLC2A1 SLC2A3 SLC2A8 SMUG1 SRD5A1 SRD5A3 UCP2	10020 1012 126129 1312 1431 145173 148738 154091 1555 1588 1636 1946 2026 2132 2194 23583 2517 2539 2619 2752 2817 2876 29988 308 3283 3293 3633 3897 3958 3990 410 4153 427 43 4684 5111 5167 5255 5286 5289 5290 5291 5293 5294 5320 5373 5563 570 572 5728 5743 6513 6515 6715 7351 79053 79644 80339 847 8879 8985 9415 9526 9572	Homo sapiens (human)
DOID:11634	myxedema	ACE ACHE ALG8 ANXA5 ARSA ASAH1 B3GLCT BAAT CAT CDH13 COMT CPT1C CYP19A1 CYP2B6 EFNA5 ENO2 ENPP1 EXT2 FADS2 FASN FUCA1 G6PD GAS1 GLUL GNE GPC1 GPX1 HJV HSD17B3 HSD3B1 INPP5B L1CAM LGALS3 LIPC MBL2 MPDU1 NCAM1 PIK3C2A PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLOD3 PMM2 PNPLA3 PRKAA2 PTEN PTGS2 SGPL1 SLC2A12 SLC2A3 SLC2A8 SMUG1 SRD5A1 SRD5A3	10020 1012 126129 1312 145173 148738 154091 1555 1588 1636 1946 2026 2132 2194 23583 2517 2539 2619 2752 2817 2876 29988 308 3283 3293 3633 3897 3958 3990 410 4153 427 43 4684 5167 5286 5289 5290 5291 5293 5294 5320 5373 5563 570 5728 5743 6515 6715 79053 79644 80339 847 8879 8985 9415 9526	Homo sapiens (human)
DOID:10914	amnestic disorder Aliases: Amnestic syndrome Korsakoff's psychosis or syndrome amnesia	ABAT ACE ACHE ACSF3 ADH1B AKR1A1 ALDH2 ALOX5 ARSA ARSD CAT CD38 CD44 CD74 CHAT CHI3L1 COMT CPT1A CYP1A2 CYP1B1 DLST ELOVL3 ELOVL6 FKRP FUT10 GAD1 GAD2 GLUL GNE GPX1 HGSNAT HSD11B1 HSD11B2 IDS INPPL1 IRS2 KL LGALS3 LGALS4 MYORG NAGLU NAMPT NEU3 NT5E OGA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLA2G6 PLD1 PLD2 PPT1 PRKAA2 PRNP PSAP PTEN PTGS1 PTGS2 SDHD SFTPA1 SLC17A5 SLC2A4 SMPD1 SMUG1 SPHK2 ST3GAL4 STS SUCLA2 SYNJ1 TKT UGT1A1	10020 10135 10327 10724 10825 1103 1116 125 1312 1374 138050 142 1544 1545 1636 1743 18 197322 217 23583 240 2571 2572 26503 2752 2876 3290 3291 3423 3636 3958 3960 410 412 414 43 4669 4907 5290 5291 5293 5294 5315 5321 5337 5338 54658 5538 5563 5621 5660 56848 5728 5742 5743 57462 6392 6484 6517 653509 6609 7086 79071 79147 83401 8398 847 84750 8660 8803 8867 9365 952 960 972	Homo sapiens (human)
DOID:11984	hypertrophic cardiomyopathy Aliases: hypertrophic obstructive cardiomyopathy	ABO ACACA ACADL ACADS ACADVL ACE ACSL1 ADPRH AGK AGL AGPAT2 ALDH2 ALG1 APRT ARSB ARSD ATP6V1A ATRN CALR3 CALR CAT CBR1 CBR3 CHST3 CNTN3 COG7 CPT1A CPT2 CS CYP11B2 CYP1A1 CYP1B1 CYP27B1 CYP2C19 CYP2C9 CYP2E1 DAG1 DCN DLD DPM3 ECHS1 EPHX2 FASN FIG4 FKRP FKTN FUT4 G6PD GAA GAPDH GBE1 GLA GLB1 GMPPB GNE GNPTAB GPC3 GPX3 GUSB GYG1 GYS1 HADH HADHA HADHB HAS3 HJV HPGDS HPSE ICAM1 IDH2 IDUA IGF2R IL1RL1 KL LDHA LGALS3 LPL MASP2 MBL2 MCAT MGAM MGAT1 MLYCD MMUT MTMR14 NAGA NAMPT NCAM1 NEU1 OLR1 PARP1 PCCA PCCB PDHA1 PGK1 PGM1 PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKD1 PLA2G7 PMM2 PNPLA2 POMGNT1 POMK POMT1 PRKAA2 PTEN PTGS2 SCD5 SCD SDHA SDHB SDHD SGSH SI SIRT4 SLC2A10 SLC33A1 SLC5A1 SMUG1 SORD ST3GAL4 SUCLG1 SULT1E1 TPI1	10020 10135 10555 10585 10747 10855 125972 1374 1376 141 142 1431 148738 1543 1545 1557 1559 1571 1585 1594 1605 1634 1636 1738 178 1892 200576 2053 217 2180 2194 2218 23409 23417 23583 2526 2539 2548 2597 2632 2717 2719 2720 27306 27349 28 2878 2990 2992 29925 2997 3030 3032 3033 3038 31 33 3383 3418 3425 3482 35 353 37 3939 3958 4023 411 414 4153 4245 4594 4668 4684 4758 4973 5067 5095 5096 5160 523 5230 5236 5289 5290 5291 5293 5294 5310 5373 54344 55624 5563 55750 56052 57104 5728 5743 6319 6389 6390 6392 64419 6448 6476 6484 6523 6652 6783 7167 79147 79158 7941 79966 81031 811 84197 8455 847 873 874 8802 8972 9173 91949 9197 9365 9469 9896	Homo sapiens (human)
DOID:12932	endomyocardial fibrosis Aliases: African endomyocardial fibrosis Becker's disease Endomyocardial sclerosis obscure African cardiomyopathy	ABO ACACA ACADL ACADS ACADVL ACE ACSL1 ADPRH AGK AGL AGPAT2 ALDH2 ALDH7A1 ALG1 ALOX12 ALPP APRT ARSB ARSD ATP6V1A ATRN ATRNL1 CALR3 CALR CAT CBR1 CBR3 CHST3 CNTN3 COG7 CPT1A CPT2 CS CYP11B2 CYP1A1 CYP27B1 CYP2C19 CYP2C9 CYP2E1 DAG1 DCN DLD DPM3 ECHS1 FASN FIG4 FKRP FKTN FUT4 G6PD GAA GAPDH GBE1 GK GLA GLB1 GMPPB GNE GNPTAB GPC3 GPX3 GUSB GYG1 GYS1 HADH HADHA HADHB HAS3 HJV HPGDS HPSE ICAM1 IDH2 IDUA IGF2R IL1RL1 KL LARGE1 LDHA LGALS3 LPL MASP2 MBL2 MCAT MGAM MGAT1 MLYCD MMUT MTMR14 NAGA NAMPT NEU1 OLR1 PARP1 PCCA PCCB PDHA1 PGK1 PGM1 PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKD1 PLA2G7 PMM2 PNPLA2 POMGNT1 POMK POMT1 PRKAA2 PTEN PTGS2 RGN SCD5 SCD SDHA SDHB SDHD SGSH SI SIRT4 SLC2A10 SLC33A1 SLC5A1 SMUG1 SORD ST3GAL4 SUCLG1 SULT1E1 TPI1	10020 10135 10555 10585 10747 10855 125972 1374 1376 141 142 1431 148738 1543 1557 1559 1571 1585 1594 1605 1634 1636 1738 178 1892 200576 217 2180 2194 2218 23409 23417 23583 239 250 2526 2539 2548 2597 26033 2632 2710 2717 2719 2720 27306 27349 28 2878 2990 2992 29925 2997 3030 3032 3033 3038 31 33 3383 3418 3425 3482 35 353 37 3939 3958 4023 411 414 4153 4245 4594 4668 4758 4973 501 5067 5095 5096 5160 523 5230 5236 5289 5290 5291 5293 5294 5310 5373 54344 55624 5563 55750 56052 57104 5728 5743 6319 6389 6390 6392 64419 6448 6476 6484 6523 6652 6783 7167 79147 79158 7941 79966 81031 811 84197 8455 847 873 874 8802 8972 9104 9173 91949 9197 9215 9365 9469 9896	Homo sapiens (human)
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	ABO ACACA ACADL ACADS ACADVL ACE ACSL1 ADIPOQ ADPRH AGK AGL AGPAT2 ALDH2 ALG1 APRT ARSB ARSD ASAH2 ATP6V1A ATRN BRAF CALR3 CALR CAT CBR1 CBR3 CHST3 CNTN3 COG7 CPT1A CPT2 CS CYP11B2 CYP1A1 CYP27B1 CYP2C19 CYP2C9 CYP2E1 DAG1 DCN DGAT1 DLD DPM3 ECHS1 FASN FIG4 FKRP FKTN FUT4 G6PD GAA GAPDH GBE1 GLA GLB1 GMPPB GNE GNPTAB GOT1 GPC3 GPX3 GUSB GYG1 GYS1 HADH HADHA HADHB HAS3 HJV HPGDS HPSE ICAM1 IDH2 IDUA IGF2R IL1RL1 KL LDHA LGALS3 LPL MASP2 MBL2 MCAT MGAM MGAT1 MLYCD MMUT MTMR14 NAGA NAMPT NCAM1 NEU1 OLR1 PARP1 PCCA PCCB PDHA1 PGK1 PGM1 PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKD1 PLA2G7 PMM2 PNPLA2 POMGNT1 POMK POMT1 PRKAA2 PTEN PTGS2 SCD5 SCD SDHA SDHB SDHD SGSH SI SIRT4 SLC2A10 SLC33A1 SLC5A1 SMUG1 SORD SPHK1 SPHK2 ST3GAL4 SUCLG1 SULT1E1 TNF TPI1	10020 10135 10555 10585 10747 10855 125972 1374 1376 141 142 1431 148738 1543 1557 1559 1571 1585 1594 1605 1634 1636 1738 178 1892 200576 217 2180 2194 2218 23409 23417 23583 2526 2539 2548 2597 2632 2717 2719 2720 27306 27349 28 2805 2878 2990 2992 29925 2997 3030 3032 3033 3038 31 33 3383 3418 3425 3482 35 353 37 3939 3958 4023 411 414 4153 4245 4594 4668 4684 4758 4973 5067 5095 5096 5160 523 5230 5236 5289 5290 5291 5293 5294 5310 5373 54344 55624 5563 55750 56052 56624 56848 57104 5728 5743 6319 6389 6390 6392 64419 6448 6476 6484 6523 6652 673 6783 7124 7167 79147 79158 7941 79966 81031 811 84197 8455 847 8694 873 874 8802 8877 8972 9173 91949 9197 9365 9370 9469 9896	Homo sapiens (human)
DOID:0050848	obstructive sleep apnea Aliases: obstructive sleep apnea syndrome	ACE ACSS2 AGRN ALDOA ALOX5 AMY1A AMY1B AMY1C ANXA5 ARSA ATP6AP2 B3GAT1 CEACAM5 CHAT CHI3L1 CHIT1 COMT CSPG4 CYP1A2 CYP2J2 ENOSF1 GAD1 GHRL GNE GNPTAB GPD1 ICAM1 IDS IDUA IL18R1 KL LEP LEPR LGALS3 NANS NGLY1 NT5E PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2G7 PLCB1 PLCB4 PRKAA2 PTEN PTGDS PTGS1 PTGS2 SCD SFTPC SLC17A5 SLC2A4 SLC33A1 SLC35A2 TM7SF2 TNF VCAM1	10020 10159 1048 1103 1116 1118 1312 1464 1544 1573 1636 226 23236 23659 240 2571 26503 27087 276 277 278 2819 308 3383 3423 3425 375790 3952 3953 3958 410 4907 51738 5290 5291 5293 5294 5332 54187 55556 5563 55768 55902 5728 5730 5742 5743 6319 6440 6517 7108 7124 7355 7412 79158 7941 8809 9197 9365	Homo sapiens (human)
DOID:0060249	scoliosis	ACADS ACAN AGA AGPAT2 AGRN ALDH3A2 ALG11 ALG14 ALG1 ALG2 ASAH1 ATP6AP2 ATP6V0A2 B3GALT6 B3GAT3 B3GLCT B4GALNT1 B4GALT7 CD38 CHAT CHI3L1 CHST11 CHST14 CHST3 COG1 COG8 COLEC10 COLEC11 COMT CRPPA CYP7B1 DEGS1 DHCR7 DPAGT1 DPM2 EBP ENPP1 EXT1 EXT2 EXTL3 FKRP FKTN FUCA1 FUT8 GAD1 GALNS GAS1 GBA2 GFPT1 GLB1 GMPPB GNE GNPAT GNPTAB GNPTG GPC3 GPC5 GUSB HACD1 HGSNAT HSD17B4 HSPG2 IDH1 IDH2 IDUA INPP5E INPP5K INPPL1 LARGE1 LFNG MASP1 MTM1 MTMR2 NEU1 NGLY1 NSDHL OCRL PAPSS2 PCYT1A PGAP2 PGAP3 PGM3 PIGL PIGO PIGT PIGU PIGV PIGW PIGY PIK3C2A PIK3CA PLOD3 PMM2 POMK POMT1 POMT2 PRPS1 PTDSS1 PTEN SDHB SDHC SDHD SGMS2 SLC26A2 SLC2A10 SLC35A2 SLC35A3 SYNJ1 TGDS TMEM165 XYLT1	10020 10159 10555 10584 10585 10682 1103 1116 11285 113189 126792 128869 1312 138050 145173 166929 1717 175 176 1798 1836 199857 2131 2132 2137 2218 224 2262 23443 23483 23545 2517 2530 2571 2583 2588 2619 26229 2673 2719 2720 27315 284098 2990 29925 29954 3295 3339 3417 3418 3425 35 3636 375790 3955 427 440138 4534 4758 4952 50515 50814 5130 51604 5167 51763 5238 5286 5290 5373 55650 55768 55858 56052 5631 5648 56623 5728 57704 6390 6391 6392 64131 729920 7355 78989 79147 79158 81031 84197 84342 8443 84572 84720 84992 85365 8560 8818 8867 8898 8985 9060 9200 9215 93210 9382 9420 9469 9487 952 9791	Homo sapiens (human)
DOID:4947	cholangiocarcinoma Aliases: adult primary Cholangiocarcinoma adult primary cholangiocellular carcinoma cholangiosarcoma	ACE AKR1A1 AKR1B10 ALDH1A3 ALDOA ALOX15 ALOX5 ALPI ALPP ANXA4 ANXA5 APRT ARSA BRAF CALR CAT CBR1 CD14 CD44 CD55 CEACAM5 CEACAM6 CEACAM7 CRYL1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP24A1 CYP27B1 CYP7A1 DLAT ENO1 ENPP1 ENPP3 FBP1 FCGR3B FUT1 FUT2 FUT3 GALNS GGT1 GLUL GNE GPC1 GPC3 H6PD HK2 HPSE HSPG2 ICAM1 IDH1 IDH2 IGF2R INS KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 ME1 MGAT5 MRC1 MSLN MUTYH NCAM1 NEIL1 NEU1 NT5E OGG1 OPCML PARP1 PCYT1A PDHA1 PFKP PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PKM PLA2G4A PSMD10 PTEN PTGES PTGS2 RECK SDC1 SDC2 SGMS1 SHMT2 SIRT2 SMUG1 SPHK1 SPHK2 STS UGDH UGT1A10 UGT1A9 UGT2B11 UMPS VTCN1	10020 10232 10327 1048 10720 10855 1087 142 1543 1544 1581 1586 1588 1591 1594 1604 1636 1737 2023 220 2203 2215 226 22914 22933 23583 240 246 248 250 2523 2524 2525 2588 259230 2678 2719 2752 2817 307 308 3099 3339 3383 3417 3418 3482 353 3630 3897 3939 3956 3958 3965 410 412 4199 4249 4360 4595 4680 4684 4758 4907 4968 4978 51084 5130 5160 5167 5169 5214 5290 5291 5293 5294 5311 5315 5321 54575 54600 56848 57016 5716 5728 5743 6382 6383 6472 673 7358 7372 79661 79679 811 8434 847 873 8877 929 9536 9563 960	Homo sapiens (human)
DOID:4928	intrahepatic cholangiocarcinoma Aliases: Intrahepatic bile duct carcinoma peripheral Cholangiocarcinoma	ACE AKR1A1 AKR1B10 ALDH1A3 ALDOA ALOX15 ALOX5 ALPI ALPP ANXA4 ANXA5 APRT ARSA BRAF CALR CAT CBR1 CD14 CD44 CD55 CEACAM5 CEACAM6 CEACAM7 CRYL1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP24A1 CYP27B1 CYP7A1 ENO1 FBP1 FCGR3B FUT1 FUT2 FUT3 GALNS GGT1 GLUL GNE GPC1 GPC3 H6PD HK2 HPSE HSPG2 ICAM1 IDH1 IDH2 IGF2R KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 ME1 MRC1 MSLN MUTYH NCAM1 NEIL1 NEU1 NT5E OGG1 OPCML PARP1 PCYT1A PDHA1 PFKP PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PKM PLA2G4A PSMD10 PTEN PTGES PTGS2 RECK SDC1 SDC2 SGMS1 SHMT2 SIRT2 SMUG1 SPHK1 SPHK2 STS UGDH UGT1A10 UGT2B11 UMPS VTCN1	10020 10232 10327 1048 10720 10855 1087 142 1543 1544 1581 1586 1588 1591 1594 1604 1636 2023 220 2203 2215 226 22914 22933 23583 240 246 248 250 2523 2524 2525 2588 259230 2678 2719 2752 2817 307 308 3099 3339 3383 3417 3418 3482 353 3897 3939 3956 3958 3965 410 412 4199 4360 4595 4680 4684 4758 4907 4968 4978 51084 5130 5160 5214 5290 5291 5293 5294 5311 5315 5321 54575 56848 57016 5716 5728 5743 6382 6383 6472 673 7358 7372 79661 79679 811 8434 847 873 8877 929 9536 9563 960	Homo sapiens (human)

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