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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 **4526 - 4550** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:3324	mood disorder Aliases: episodic mood disorder	ABAT ABO ACE CAT CD44 COMT CRYL1 CYP19A1 DGKG DGKH GAD1 GAD2 GLO1 GLUL HPGDS HSD11B2 IMPA2 KL LDHA NCAM1 PAFAH1B1 PDIA3 PFKFB3 PFKL PGD PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLB1 PLCB1 PLCB4 PNPLA3 PRNP PTGS1 PTGS2 SIRT2 SOAT1 ST8SIA2 STS TM7SF2	1312 151056 1588 1608 160851 1636 18 22933 23236 2571 2572 27306 2739 2752 28 2923 3291 3613 3939 412 4684 5048 51084 5209 5211 5226 5236 5290 5291 5293 5294 5321 5332 5621 5742 5743 6646 7108 80339 8128 847 9365 960	Homo sapiens (human)
DOID:11563	retinal vasculitis	LGALS1	3956	Homo sapiens (human)
DOID:0111012	cone-rod dystrophy 7 Aliases: CORD7	ELOVL4	6785	Homo sapiens (human)
DOID:12328	marasmus Aliases: Nutritional atrophy Nutritional marasmus	ACAT1 ACE ACLY ACOT7 ACSBG1 AKR1A1 ALDH2 ALDOB AMACR AMY1A AMY1B AMY1C BST2 CALR CAT CD14 CD55 CEL CYP19A1 CYP2C9 CYP2E1 CYP7A1 CYP7B1 DGAT1 FADS1 FADS2 FCGR3B FH G6PC1 GAD2 GALT GLB1 GPX3 HJV HPGDS HPSE2 HSD3B1 ICAM1 KL LCT LDHA LGALS3 LIPA LIPC MPI OGA PC PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PMM2 PRPS1 PTGS2 REG1B SDHB SELP SI SLC2A4 SLC37A4 SLC39A8 SLC5A1 SMC3 SMPD1 SMUG1 SORD SPHK1 TPI1 TYMP VCAM1	10327 1056 10724 11332 148738 1559 1571 1581 1588 1604 1636 1890 217 2215 2271 229 23205 23583 23600 2538 2542 2572 2592 2720 27306 276 277 278 2878 3283 3383 38 3938 3939 3958 3988 3990 3992 4351 47 5091 5106 5290 5291 5293 5294 5338 5373 5631 5743 5968 60495 6390 6403 64116 6476 6517 6523 6609 6652 684 7167 7412 811 847 8694 8877 9126 929 9365 9415 9420	Homo sapiens (human)
DOID:1475	lymphangioma Aliases: Congenital lymphangioma benign lymphangioma	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 MAG PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHD	10082 10908 2619 29071 3294 3417 3418 3482 4099 5281 5290 5291 5293 5294 5310 5476 57104 5728 6392 811 8809 8813 929	Homo sapiens (human)
DOID:9395	croup Aliases: Croup syndrome Laryngotracheobronchitis acute Obstructive Laryngitis acute laryngotracheobronchitis	CD14	929	Homo sapiens (human)
DOID:12451	sulfhemoglobinemia	APRT CYB5R3 CYP1A2 DLD G6PC1 G6PD	1544 1727 1738 2538 2539 353	Homo sapiens (human)
DOID:14766	renal agenesis Aliases: hereditary renal aplasia hereditary urogenital adysplasia renal adysplasia renal aplasia	FKRP FKTN FREM1 GFRA1 GPC3 LARGE1 PIGN PIGP PIGQ POMT1 POMT2 SLC2A4	10585 158326 2218 23556 2674 2719 29954 51227 6517 79147 9091 9215	Homo sapiens (human)
DOID:3611	acute retinal necrosis syndrome Aliases: acute retinal necrosis	LCT	3938	Homo sapiens (human)
DOID:474	histiocytoid hemangioma Aliases: Angiolymphoid hyperplasia with eosinophilia epithelioid haemangioma epithelioid hemangioma	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 LGALS9 MAG PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHD	10082 10908 2619 29071 3294 3417 3418 3482 3965 4099 5281 5290 5291 5293 5294 5310 5476 57104 5728 6392 811 8809 8813 929	Homo sapiens (human)
DOID:0050818	transcobalamin II deficiency Aliases: TCN2 deficiency	MMUT	4594	Homo sapiens (human)
DOID:219	colon cancer	ACACA ACAN ACAT1 ACE ACHE ACLY ACSL1 ACSL4 ACSS2 ADH1B ADH1C AFMID AGL AKR1B10 AKR1B1 AKR1C1 AKR1C3 AKT1 ALDH1A3 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALG1 ALOX12B ALOX15 ALOX5 ALPP AMACR ANXA5 APRT ARSA ASAH1 ATRNL1 B3GALT5 B3GNT7 B3GNT8 B3GNTL1 B4GALNT3 BAAT BAD C1GALT1 C1GALT1C1 CA4 CACNA2D1 CALR CAT CBR1 CD109 CD248 CD44 CD55 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CERS4 CERS5 CHAT CHGA CHI3L1 CHKA CHPT1 CHST4 CLEC3A COMT CSGALNACT1 CTBS CYB5R1 CYB5R3 CYP17A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27B1 CYP2E1 CYP2R1 CYP3A4 CYP4F3 CYP7A1 CYP7B1 DAG1 DCN DGKB DGKE DGKZ DHCR24 DHCR7 DHDDS DLD DPEP1 EBP ELOVL5 ENO1 ENPP3 ENPP7 FADS1 FADS2 FASN FBP1 FDPS FH FOLR1 FUT1 FUT4 FUT6 FUT7 G6PD GALNT12 GALNT4 GALNT6 GAPDH GCNT2 GCNT3 GLB1 GLO1 GMDS GOLPH3 GPC1 GPI GPLD1 GPX1 GPX2 GPX3 GSK3B GUSB HAS3 HEXB HK2 HMGCS1 HMGCS2 HMMR HPGDS HPRT1 HPSE HS3ST2 HSD11B2 HSD17B4 HSD17B7 HSPG2 HYAL2 ICAM1 IDH1 IDUA IGF2R IL1R1 IMPA1 INPP4B INPP5D INPPL1 ISYNA1 KL KLRK1 L1CAM LAYN LDHA LDHB LGALS12 LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LIPC LPIN1 LPL LYPD5 MACROD2 MAPK14 MBD4 MBL2 ME1 MGAT5 MGLL MICA MINPP1 MMP25 MRC1 MTM1 MTMR3 MUTYH NAMPT NEU3 NTHL1 NTNG1 OGA OGG1 OLR1 PARP1 PARP4 PCYT1A PCYT1B PFKFB3 PGK1 PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1A PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G3 PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCG1 PLCH1 PLD2 PLD4 PLEKHA8 PLPP3 PNP PNPLA2 POGLUT1 PRKAA1 PRKAA2 PSMD10 PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 RECK REG1B RENBP RGN RPE RPIA SCD SDC1 SDC2 SDC4 SDHA SDHB SDHC SELE SELL SGMS2 SGPL1 SHMT1 SHMT2 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC26A2 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35A2 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST6GAL1 ST6GALNAC1 STS STT3A SULF1 SULT1E1 SYNJ2 TDG TIGAR TKT TKTL1 TKTL2 TM7SF2 TMED3 TMED9 TMTC1 TNFRSF10C TNKS TUSC3 TYMP UGT1A1 UGT1A6 UGT1A7 UGT1A9 UGT2B17 ULBP2 UMPS UNG UPP1 VCAM1 VCAN VNN1	100507436 1012 10135 10143 10164 10317 1048 10682 10724 10825 10855 1087 1103 1113 1116 1119 11226 11343 120227 122618 125 125061 126 128869 1312 135228 140733 142 143 1432 143903 1462 146712 1486 151056 1543 1544 1545 1571 1576 1581 1586 1591 1594 1604 1605 1607 1634 1636 1645 166929 1717 1718 1727 1738 176 178 1800 1836 1890 2023 207 217 218 2180 2182 219 2194 220 2203 2224 2271 22854 22914 22933 22934 23007 231 23175 23213 23236 23423 2348 23583 23600 23659 240 242 246 250 2523 2526 2528 2529 2539 2597 26033 26279 26503 2651 27036 2720 27306 2739 2762 2817 2821 2822 283358 284348 2876 2877 2878 29071 2932 2990 3038 3074 308 3099 31 3157 3158 3161 3251 3291 3295 3339 3383 339221 3417 3425 3482 353 3554 3612 3635 3636 3703 374907 38 3897 3939 3945 3956 3958 3960 3964 3965 3990 3992 4023 4051 410 412 4153 4199 4249 427 43 4360 4534 4595 4680 47 4860 4913 4968 4973 501 50487 5130 51477 51478 51548 5169 51706 5209 5230 5289 5290 5291 5293 5294 5315 5319 5320 5321 5329 5335 5338 54577 54578 54600 54658 54732 5552 5562 5563 55790 55808 55902 56052 56848 56913 56983 56994 570 57016 57103 57104 57124 5716 572 57214 5728 5730 5740 5742 5743 5968 5973 60481 6120 6319 6382 6383 6385 6389 6390 6391 6401 6402 64083 64386 6470 6472 6480 6514 6515 6517 6518 6609 6646 6783 6996 7086 7108 7355 7367 7372 7374 7378 7412 762 781 7941 79603 79695 7991 79947 80328 811 8277 83857 8394 8398 8399 84076 8434 847 84725 8525 8526 85329 8613 8644 8658 8692 8693 873 8794 8821 8871 8876 8877 8879 8897 8930 91012 9104 9245 93010 9365 9415 9420 9468 9536 9562 960 9956	Homo sapiens (human)
DOID:14447	gonadal dysgenesis Aliases: Gonadal dysgenesis syndrome	ASAH1 CAT CD38 CYP19A1 CYP21A2 GAPDH HSD17B4 INPPL1 MBL2 MOGS NT5E PCYT1A PGD RXYLT1 SMC3 SRD5A2	10329 1588 1589 2597 3295 3636 4153 427 4907 5130 5226 6716 7841 847 9126 952	Homo sapiens (human)
DOID:0080199	colorectal carcinoma	ABO ACACA ACACB ACADM ACAT1 ACE ACHE ACLY ACO2 ACOX1 ACSL1 ACSL4 ACSL5 ACSS2 ACYP2 ADH1B ADH1C ADH7 AKR1A1 AKR1B10 AKR1B1 AKR1C1 ALDH1A3 ALDH1B1 ALDH2 ALDOB ALOX12 ALOX15B ALOX5 ALPI ALPP AMACR AMDHD2 AMT ANXA4 ANXA5 ANXA7 ANXA9 APRT ARSA ARSB ART1 ASAH1 ATP6AP2 ATP6V1A B3GALT4 B3GAT1 B3GNT6 B4GALNT3 B4GALT1 B4GALT2 B4GALT3 B4GALT5 B4GALT6 BAAT BST2 C1GALT1 C1GALT1C1 CA4 CACNA2D2 CALR CAT CBR1 CD109 CD14 CD177 CD209 CD248 CD33 CD38 CD44 CD55 CDH13 CDS1 CEACAM5 CEACAM6 CEACAM7 CEMIP CERS4 CERS6 CHI3L1 CHIT1 CHKA CHPF2 CHPT1 CHST7 CHST8 CHSY1 CHSY3 CLC CLEC3A CMAS CNTN1 CNTN4 COG8 COMT CPM CPO CPT1A CPT2 CTSA CYB5R1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2R1 CYP3A5 CYP46A1 CYP4F3 CYP7A1 CYP7B1 DCN DEGS1 DEGS2 DGKB DGKE DGKG DHDDS DHRS11 DLD DPAGT1 DPEP1 DSEL EBP EFNA1 ELOVL5 ENO1 ENOSF1 ENPP1 EXTL3 FADS1 FADS2 FASN FBP1 FCGR3B FCN1 FCN2 FOLR2 FUCA1 FUT1 FUT2 FUT3 FUT4 FUT5 FUT6 FUT8 FUT9 G6PD GAD2 GALK1 GALM GALNS GALNT11 GALNT12 GALNT14 GALNT15 GALNT1 GALNT3 GALNT6 GALNT7 GAPDH GAS1 GCDH GCNT1 GCNT2 GCNT3 GCNT7 GDPD5 GFRA1 GFRA2 GGT1 GLB1 GLO1 GLTP GMDS GML GOLPH3 GPAA1 GPC1 GPC3 GPC6 GPI GPNMB GPX1 GPX2 GPX3 GUSB HADHB HAS2 HIBCH HK1 HK2 HK3 HKDC1 HMGCS2 HMMR HPGDS HPSE HSD11B1 HSD11B2 HSD17B1 HSD17B2 HSD17B4 HSD17B7 HSPG2 HYAL1 HYAL2 ICAM1 ICAM5 IDH1 IDH2 IDUA IGF2R IL18R1 IL1RL1 INPP1 INPP4B INPPL1 ISYNA1 KL KLRC1 KLRK1 L1CAM LCT LDHA LDHB LGALS12 LGALS1 LGALS3 LGALS4 LGALS9 LIPC LPCAT2 LPCAT4 LPIN1 LTA4H LY6G6D LYPD5 MACROD1 MACROD2 MANBA MAPK14 MASP2 MBD4 MBL2 MCAT ME1 MECR MELTF MGLL MMUT MPG MRC1 MSLN MTMR3 MTMR7 MUTYH NAAA NAMPT NCAM1 NDST4 NEU1 NT5E NTHL1 NTNG1 OGA OGDH OGDHL OGG1 OGT OLR1 OVGP1 PARP1 PARP6 PARP8 PCCA PCCB PCK1 PCYT1A PDHX PDIA3 PFKFB3 PGAM1 PGK1 PGM1 PGM5 PGP PIGF PIGK PIGN PIGO PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD1L2 PKLR PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAAT3 PLAUR PLB1 PLCD1 PLCE1 PLCG1 PLD1 PLD2 PMM2 PNPLA2 POC1B-GALNT4 POFUT1 POGLUT1 PPP1R3A PPP1R3C PRG2 PRKAA2 PRNP PRPS1 PSMD10 PTEN PTGDS PTGES2 PTGES PTGIS PTGS1 PTGS2 RECK REG1B RENBP RGMB RGN RPIA RPN2 RTN4R RTN4RL2 SCD SDC1 SDC2 SDCBP2 SDHB SDHC SDHD SELE SGMS1 SHMT1 SHMT2 SI SIGLEC6 SIGLEC7 SIGLEC9 SIRT2 SIRT4 SIRT6 SLC2A3 SLC2A4 SLC33A1 SLC35A2 SLC35G1 SLC39A8 SMUG1 SOAT1 SPHK1 SPHK2 SQLE SRGN ST3GAL4 ST3GAL6 ST6GAL1 ST6GALNAC2 ST8SIA1 ST8SIA4 STS SULF1 SULF2 SULT1E1 TIGAR TKTL1 TMED6 TMTC1 TNKS TP53 TPI1 TPST1 TUSC3 TYMP UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B15 UGT2B17 UGT2B28 UGT2B7 UGT3A2 UMPS UNG UPP1 VCAM1 VCAN VNN1 VTCN1	10026 100528030 10082 1012 10135 10143 10159 10232 10327 1040 10402 10457 1048 10610 10682 10690 10724 10747 10855 10858 1087 11145 1116 1118 1119 11226 11343 114780 117248 1178 120227 123099 125 126 1272 128869 130589 130749 131 1312 135228 1368 1374 1376 140687 140733 142 1432 1462 146456 151056 152330 1543 1544 1545 1555 1557 1559 1571 1577 1581 1586 1588 1591 159371 1594 1604 1607 1608 1634 1636 1645 167127 1738 1798 1800 1890 192134 1942 2023 2137 217 2180 2182 219 2194 220 2203 2215 2219 2220 22854 22856 229 22914 22933 22934 231 23175 23213 23409 2350 23509 23556 23583 23600 23659 239 240 247 248 250 2517 2523 2524 2525 2526 2527 2528 2530 253782 2539 254531 2572 2584 2588 2589 2591 259230 2597 2619 26275 2639 2650 2651 2674 2675 2678 2683 27036 27087 27111 27163 27180 2719 2720 27306 27349 2739 275 2762 2765 28 2817 2821 283358 283871 284348 285704 2876 2877 2878 28992 29071 2923 2990 3032 3037 307 308 30835 3098 3099 31 310 3101 3158 3161 32 3290 3291 3292 3294 3295 3339 3373 337876 3383 34 3417 3418 3425 3482 349667 353 3628 3636 38 3821 3897 3938 3939 3945 3956 3958 3960 3965 3990 3992 4048 4051 410 411 412 4126 4153 417 4199 4241 427 43 4350 4360 4594 4595 4680 4684 47 4758 4907 4913 4967 4968 4973 50 5016 5095 5096 51 51005 5105 51102 51196 51228 5130 51477 51478 51548 5167 51703 51706 51809 5209 5223 523 5230 5236 5239 5281 5289 5290 5291 5293 5294 5310 5313 5315 5319 5320 5321 5329 5333 5335 5337 5338 5373 54480 54490 54575 54576 54577 54578 54600 54657 54658 5476 54947 5506 5507 5552 5553 55556 5563 55753 55902 55907 55959 5621 5631 56548 56848 56913 56965 56983 56994 570 57016 57103 57104 57124 57126 5716 57214 5728 5730 5740 5742 5743 58530 5968 5973 60481 6185 6319 6382 6383 6390 6391 63917 6392 6401 64083 64116 64377 64579 6470 6472 6476 6480 6484 6489 65078 6515 6517 6646 6713 6783 684 7087 7157 7167 7355 7364 7366 7367 7372 7374 7378 7412 762 7903 79154 79603 79623 79668 79679 79695 7991 79947 80142 80201 8050 811 81544 8277 83857 8398 8399 8416 8434 84342 8460 847 84720 8473 8526 85329 8560 8658 8692 8703 8704 8705 873 8733 8809 8821 8876 8877 8897 8930 9104 9108 9173 9197 92126 9245 9254 929 9331 9334 9365 9415 9420 945 946 952 9536 960 98	Homo sapiens (human)
DOID:12287	Crimean-Congo hemorrhagic fever Aliases: CHF Congo virus Congo-Crimean Hemorrhagic Fever Crimean hemorrhagic fever	CAT ICAM1 SLC17A5	26503 3383 847	Homo sapiens (human)
DOID:0111368	cholesterol-ester transfer protein deficiency Aliases: CEPT deficiency familial hyperalphalipoproteinemia	GALNT2 LCAT LIPC LIPG LPL	2590 3931 3990 4023 9388	Homo sapiens (human)
DOID:0111228	Sveinsson chorioretinal atrophy Aliases: HPCD SCRA atrophia areata helicoid peripapillary chorioretinal degeneration peripapillary chorioretinal degeneration, Icelandic type	CAT CYP1B1 CYP2C19 ENO2 GAD1 GPNMB GPX3 IDS IGF2R MRC1 PIK3CA PIK3CD PIK3CG RPE	10457 1545 1557 2026 2571 2878 3423 3482 4360 5290 5293 5294 6120 847	Homo sapiens (human)
DOID:14175	von Hippel-Lindau disease Aliases: Hippel Lindau syndrome von Hippel-Lindau syndrome	ACHE APRT CHGA CYP19A1 CYP1B1 CYP2B6 IDH2 KLRD1 MUTYH PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 PRKAA2 PTEN PTGS2 PYGM SDHB SDHC SDHD SLC2A3 SMUG1 SORD TUSC3	10908 1113 1545 1555 1588 23583 3418 353 3824 43 4595 5290 5291 5293 5294 5563 5728 5743 5837 6390 6391 6392 6515 6652 7991	Homo sapiens (human)
DOID:5289	uterus leiomyosarcoma Aliases: leiomyosarcoma of Corpus Uteri	CBR1 CD38 FH PIK3CA PTEN SDC1 SMUG1	2271 23583 5290 5728 6382 873 952	Homo sapiens (human)
DOID:0110202	Charcot-Marie-Tooth disease dominant intermediate A Aliases: CMTDIA Charcot-Marie-Tooth neuropathy dominant intermediate A DI-CMTA autosomal dominant intermediate Charcot-Marie-Tooth disease type A	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:11427	endosalpingiosis	OVGP1	5016	Homo sapiens (human)
DOID:0050861	colorectal adenocarcinoma	BRAF CD44 CYP24A1 CYP4F8 GSK3B TP53 TPST1	11283 1591 2932 673 7157 8460 960	Homo sapiens (human)
DOID:484	vascular hemostatic disease	ABO	28	Homo sapiens (human)
DOID:0070329	mitochondrial DNA depletion syndrome Aliases: mtDNA depletion syndrome	ACO2 CD44 CS DGKB DGKE PARP1 PIK3CA PIK3CB PIK3CD PIK3CG SLC25A10 SUCLA2 SUCLG1	142 1431 1468 1607 50 5290 5291 5293 5294 8526 8802 8803 960	Homo sapiens (human)
DOID:0060600	obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum	ACACA ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 31 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)

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