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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 **4026 - 4050** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:3669	intermittent claudication Aliases: Charcot's syndrome	ABO ACE AGXT ALDH7A1 BAD CALR CD14 CHI3L1 CYP1A1 CYP1A2 CYP2C19 DLD ENPP1 GPX1 ICAM1 KLRB1 LIPC PCYT1A SIRT2 SLC2A10 SRD5A1 VCAM1 VCAN XYLT1 XYLT2	1116 1462 1543 1544 1557 1636 1738 189 22933 28 2876 3383 3820 3990 501 5130 5167 572 64131 64132 6715 7412 81031 811 929	Homo sapiens (human)
DOID:1391	Norum disease Aliases: LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY lecithin acyltransferase deficiency	EFNA5 GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2822 3030 3032 3290 3339 3931 3956 4023 5286 5320 7903 7941 8399 8809	Homo sapiens (human)
DOID:12800	mucopolysaccharidosis VI Aliases: MPS VI - Maroteaux-Lamy syndrome Maroteaux - Lamy syndrome Maroteaux-Lamy syndrome arylsulfatase B deficiency deficiency of N-acetylgalactosamine-4-sulfatase	ACAN AGA APRT ARSA ARSB ARSG ARSH CANX CAT CD1D CD38 CTSA DPEP1 EXTL2 EXTL3 FUCA1 FUT1 GALNS GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT HYAL1 HYAL2 IDS IDUA L1CAM MAN2B1 NAGLU NEU1 NT5E OGA SGSH SLC26A2 SLC35G1 SPAM1 SUMF1 TNF	10020 10724 138050 159371 175 176 1800 1836 2135 2137 22901 2517 2523 2588 2720 2799 285362 2990 3373 3423 3425 347527 353 3897 410 411 4125 4669 4758 4907 5476 6448 6677 7124 79158 821 84572 847 8692 912 952	Homo sapiens (human)
DOID:331	central nervous system disease	ABO ACE ACHE ACO2 ALDH3A2 ALDH7A1 ARSA ARSB B4GALNT1 BST2 CACNA2D2 CD1D CD38 CD44 CDH13 CH25H CHAT CHI3L1 CHKB COL9A2 COLGALT1 COMT CPT1B CYB5R3 CYP1A2 CYP27A1 CYP2B6 CYP2C8 CYP2C9 CYP3A4 DEGS1 DLD EBP ECHS1 ELOVL4 ENO2 ENPP2 EPM2A FCN2 GAD1 GAD2 GALNT14 GBA1 GBA2 GCDH GLB1 GLUL GOLPH3 GPC5 GPI GPX1 GUSB HK1 HPGDS HPRT1 HS6ST3 ICAM1 IDH2 IDH3A IDS IDUA INPPL1 KL L1CAM LYZ MAG MANBA MANEAL MBL2 MDGA2 MGAT1 MGLL NAGA NCAM1 NCAN NDST3 NEU3 NYX OGA OGDH PAFAH1B1 PARP1 PGP PIGW PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLB1 PNP PNPLA6 PPT1 PRNP PTEN PTGS2 RTN4R SARM1 SEMA7A SGSH SHMT1 SIGLEC7 SIRT2 SLC17A5 SLC2A4 SLC39A8 SMPD1 SMPD3 SMUG1 SPTLC1 ST8SIA4 SUCLA2 SUMF1 TMED9 TPI1	1012 10558 10682 10724 10825 10908 1103 1116 1120 11343 1298 1312 1375 142 1463 149175 151056 1544 1555 1558 1559 1576 1593 161357 1636 1727 1738 1892 2026 2220 224 2262 22933 23098 23583 2571 2572 2583 2629 2639 26503 266722 27036 2720 27306 2752 28 2821 283871 284098 285362 2876 2990 3098 3251 3383 3418 3419 3423 3425 3636 3897 4069 4099 410 411 4126 4153 4245 43 4668 4684 4860 4967 50 501 5048 5168 5290 5291 5293 5294 5320 5321 54732 5538 55512 5621 5728 5743 57704 60506 64083 64116 6448 6470 65078 6517 6609 6785 684 7167 7903 7957 79623 79709 8398 8399 8482 8560 8803 9023 912 9254 9348 9365 952 960	Homo sapiens (human)
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:0110218	Brugada syndrome 1 Aliases: BRGDA1	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:1380	endometrial cancer Aliases: endometrial Ca endometrial neoplasm malignant endometrial neoplasm malignant neoplasm of endometrium neoplasm of endometrium primary malignant neoplasm of endometrium tumor of Endometrium	ABO ACE ACSS2 ADH7 ADRB3 AGPAT2 AKR1B10 AKR1B1 AKR1C1 AKR1C3 AKT2 ALOX5 ANXA5 APEX1 APRT ATP6AP2 BAAT BAD BST2 C1GALT1C1 CACNA2D3 CALR CAT CD44 CD55 CDH13 CEACAM5 CEACAM7 CHI3L1 CHPT1 CHST15 CHST3 COMT CSPG4 CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP2B6 CYP2E1 CYP3A4 CYP3A7 CYP4F3 DAG1 DCN DGKA DHCR24 DHDDS DHRS11 DOLPP1 EFNA2 ENO1 ENOSF1 ERRFI1 EXT1 FASN FH FOLR1 FOLR2 G6PC1 GALNT6 GGT1 GLO1 GOLPH3 GPC3 GPCPD1 GPI HAS1 HMMR HPGDS HPSE HS3ST2 HSD17B1 HSD17B2 HSD17B4 HSD17B6 HSD17B7 HSD3B1 HSD3B2 HYAL1 HYAL2 HYAL3 IDH1 IGF2R KLRC3 L1CAM LDHA LGALS1 LGALS3 LGALS9 LPL LYPD5 MACROD1 MBD4 MBL2 MDH2 MGLL MRC1 MSLN MTAP MUTYH NCAM1 NDUFAB1 NEU1 NT5E NTHL1 OGG1 PARP1 PDIA3 PGAM2 PGK1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G15 PLA2G1B PLA2G2A PLA2G6 PLB1 PRG2 PRKAA2 PSMD10 PTEN PTGES2 PTGS2 SCD SDC1 SDHB SDHC SDHD SGPL1 SIGLEC1 SIRT2 SIRT4 SIRT6 SLC2A3 SLC2A4 SMUG1 SOAT1 SPAM1 SRD5A2 ST6GALNAC1 STS SULT1E1 SULT2B1 TFF1 TMTC1 TNFRSF10C TNKS2 TP53 TYMP UGT1A1 UGT2B17 UGT2B7 VCAN VTCN1	1012 10159 10232 1048 10555 10855 1087 1116 11226 11343 131 1312 142 1462 1464 151056 1543 1544 1545 155 1551 1555 1571 1576 1583 1586 1588 1591 1604 1605 1606 1634 1636 1645 1718 1890 1943 2023 208 2131 2194 2271 22933 231 23409 2348 2350 23583 23659 240 2538 2678 2719 27306 2739 28 2821 284348 28992 29071 2923 3036 308 3161 328 3283 3284 3292 3294 3295 3373 3417 3482 353 3823 3897 3939 3956 3958 3965 4023 4051 412 4153 4191 4360 4507 4595 4684 4706 4758 4907 4913 4968 51363 51478 51548 5224 5230 5236 5290 5291 5293 5294 5315 5319 5320 54206 54658 5553 55556 5563 55799 55808 55902 56261 56994 570 57016 5716 57171 572 5728 5743 6319 6382 6390 6391 6392 64083 6515 6517 6614 6646 6677 6716 6783 6820 684 7031 7157 7364 7367 79154 79679 79947 80142 80351 811 8372 83857 8398 847 8630 8644 8692 8794 8879 8930 9469 960 9956	Homo sapiens (human)
DOID:3413	alpha-mannosidosis Aliases: Alpha-D-mannosidosis alpha-mannosidase deficiency deficiency of alpha-mannosidase	MAN2B1 MAN2C1	4123 4125	Homo sapiens (human)
DOID:5823	childhood lymphoma Aliases: pediatric lymphoma	ABO ACE ACOX1 ACSF3 ALOX12 ALPI ALPP ANXA5 CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD55 CD74 CEL CHGA CLEC10A CNTN2 COMT CYP17A1 CYP1A1 ENO2 ENOSF1 EPM2A FCER2 FCGR3B FH FMOD G6PD GBA1 GLB1 GPI GPX1 HEXA HMMR HPGDS HYAL2 ICAM1 IDH1 IDH2 IL1R1 IL1RL1 INPP4B INPP5D ISYNA1 KLRC1 KLRD1 KLRK1 LGALS1 LGALS3 LY6K MCAT MLYCD MRC1 MTAP NCAM1 NDUFAB1 NT5E PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PNP PPP1R3A PTEN PTGDS PTGES PTGS2 RTN4R SLC27A5 SLC2A3 SLC35A2 SLC35B2 SMC3 SMUG1 SOAT1 SPHK2 STS SULT1E1 TIGAR TMTC3 TNFRSF10C VCAM1 VTCN1	10462 1056 10998 1113 1312 1543 1586 1604 160418 1636 197322 2026 2208 2215 2271 22914 2331 23417 23583 239 248 250 2539 2629 2720 27306 27349 28 2821 2876 3073 308 3161 3383 3417 3418 347734 3554 3635 3821 3824 3956 3958 412 4360 4507 4684 4706 4860 4907 51 51477 5290 5291 5293 5294 54742 5506 55556 56848 57103 5728 5730 5743 65078 6515 6646 6783 6900 7355 7412 7957 79679 83666 847 8692 8794 8821 912 9126 9173 929 933 945 952 9536 960 962 972	Homo sapiens (human)
DOID:0060844	Norrie disease Aliases: Episkopi blindness Norrie-Warburg disease atrophia bulborum hereditaria	CD38 CEACAM5 CEACAM7 CMAS	1048 1087 55907 952	Homo sapiens (human)
DOID:0060679	catecholaminergic polymorphic ventricular tachycardia 5 Aliases: CVPT5	ACADVL ACE CALR CHPT1 FKRP FUT1 GOLPH3 GYG1 PTGS2 SCD	1636 2523 2992 37 56994 5743 6319 64083 79147 811	Homo sapiens (human)
DOID:684	hepatocellular carcinoma Aliases: Hepatoma	ABO ACAA1 ACAA2 ACACA ACADL ACADS ACADSB ACAN ACAT1 ACAT2 ACE ACER3 ACHE ACLY ACO1 ACO2 ACOT12 ACOT1 ACOT7 ACOT8 ACOX1 ACOX2 ACSBG1 ACSL1 ACSL3 ACSL4 ACSM3 ACSS2 ACYP2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH6 ADIPOQ AGA AGPS AGXT AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C2 AKR1C3 AKR1C4 AKT1 AKT2 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALDOB ALDOC ALG1 ALOX12 ALOX5 ALPI ALPP AMACR AMY1A AMY1B AMY1C ANXA4 ANXA5 ANXA7 APEX1 APRT ARSF ART1 ASGR1 ATP6AP2 ATRNL1 B3GALNT2 B3GALT5 B3GALT6 B3GAT3 B4GALNT1 B4GALT1 B4GALT7 BAAT BCKDHB BDH2 BST2 C1GALT1 C1GALT1C1 CACNA2D1 CALR CANX CAT CBR1 CD109 CD14 CD1D CD22 CD248 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM7 CEL CEMIP CERS4 CHI3L1 CHKA CHPT1 CHST11 CHSY1 CLEC10A CLEC1B CLEC2B CLEC4G CLEC7A COG8 COLEC10 COMT CPT1A CPT1B CPT2 CRLS1 CRYL1 CSPG4 CTBS CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP39A1 CYP3A4 CYP3A5 CYP3A7 CYP4A11 CYP4A22 CYP4F2 CYP4F3 CYP51A1 CYP7A1 DCN DCXR DGAT2 DGKG DGKK DGKQ DHCR24 DHCR7 DHDDS DHDH DLAT DLD DPAGT1 DPEP1 DSE EBP ECHS1 EFNA1 EFNA5 EHHADH ELOVL2 ELOVL4 ELOVL6 ENO1 ENPP1 ENPP2 ENPP3 ETNPPL EXT1 FADS1 FADS2 FASN FBP1 FBXO17 FCGR3B FCN2 FCN3 FDFT1 FOLR1 FOLR2 FUT10 FUT11 FUT1 FUT2 FUT4 FUT5 FUT6 FUT7 FUT8 FUT9 G6PC1 G6PD GAL3ST1 GALK1 GALNT10 GALNT14 GALNT1 GALNT2 GALT GAPDH GBA3 GCK GCNT3 GFPT1 GFRA1 GFRA2 GGT1 GGT5 GLB1 GLDC GLO1 GLUL GMDS GNMT GNPAT GOLPH3 GPAA1 GPC1 GPC2 GPC3 GPC5 GPD1 GPI GPNMB GPX1 GPX2 GPX3 GUSB GYS2 HACD1 HAO2 HAS1 HAS3 HJV HK1 HK2 HMGCS1 HMGCS2 HMMR HPGDS HPRT1 HPSE HSD11B1 HSD11B2 HSD17B1 HSD17B2 HSD17B4 HSD3B2 HSPG2 ICAM1 IDH1 IDH2 IDUA IGF2 IGF2R IL18R1 IL1RAP IL1RAPL1 IL1RL1 IL6ST INPP4B INPP5D INPP5E INPP5K INPPL1 ISYNA1 KAT2B KHK KL KLB KLRB1 KLRC1 KLRD1 KLRK1 L1CAM LARGE1 LCAT LDHA LDHB LEP LEPR LGALS1 LGALS3 LGALS4 LGALS9 LPCAT1 LPCAT3 LPIN1 LPL LYPD5 LYZ MACROD1 MACROD2 MAN1A2 MAN1B1 MAN2A1 MASP2 MBD4 MBL2 MBOAT7 MCAT ME1 MGAT1 MGAT3 MGAT5 MGAT5B MGLL MICA MMUT MOGAT2 MPG MRC1 MSLN MTAP MTMR14 MUTYH NAAA NAMPT NANS NCAM1 NCAN NEIL1 NEIL2 NEIL3 NEU1 NT5E NTM OGA OGDHL OGG1 OGT OLR1 OPCML OXCT1 PAFAH1B1 PAPSS1 PARG PARP10 PARP12 PARP14 PARP1 PARP2 PARP9 PC PCK1 PCK2 PCNA PCYT1A PCYT1B PDHA1 PDIA3 PEMT PFKFB3 PFKFB4 PFKL PFKM PGAM1 PGD PGK1 PGM1 PGM5 PGP PI4KA PIGK PIGS PIGU PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKLR PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G4D PLA2G6 PLAUR PLB1 PLCB1 PLCB2 PLCE1 PLCG1 PLCG2 PLOD3 PLPP5 PNLIPRP3 PNP PNPLA2 PNPLA3 POFUT1 PPARA PPAT PPP1R3C PPT1 PRKAA2 PRKCSH PRNP PRPS1 PRSS8 PSAP PSMD10 PTEN PTGES PTGS1 PTGS2 PYGL QTRT1 RECK RENBP RGMB RGN RPE RPIA RPN2 RTN4R SCD5 SCD SDC1 SDC2 SDC3 SDHA SDHB SDHC SDHD SELE SELENOI SELL SELP SHMT1 SHMT2 SIRT2 SIRT4 SIRT6 SLC17A5 SLC27A5 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A1 SLC35A4 SLC35C1 SLC35G1 SLC37A4 SLC5A1 SMC3 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SOAT2 SORD SPHK1 SPHK2 SPTLC2 SQLE SRD5A2 SRGN ST3GAL3 ST3GAL4 ST3GAL5 ST3GAL6 ST6GAL1 ST8SIA4 STS SULF1 SULF2 SULT1E1 SULT2B1 TALDO1 TEX101 THEM4 TIGAR TKT TKTL1 TKTL2 TLR2 TLR4 TM7SF2 TMED3 TMED5 TMED6 TMEM165 TNF TNFRSF10C TNKS TP53 TPI1 TREH TUSC3 TYMP UAP1 UAP1L1 UGCG UGDH UGP2 UGT1A10 UGT1A1 UGT1A6 UGT1A7 UGT1A9 UGT2B15 UGT2B28 UGT2B4 UGT2B7 UGT8 ULBP1 UMPS UNG VCAM1 VCAN VTCN1	10005 10026 10038 100507436 1012 10135 10159 10162 10232 10317 10327 10400 10402 10449 10457 10462 1048 10559 1056 10584 10682 10690 10724 10747 10855 1087 10905 10998 1109 11141 1116 11181 1119 11253 11285 11332 11343 113829 115290 117145 119548 120227 124 125 126 126792 127 128 128869 130 1312 134526 135228 1374 1375 1376 139189 140733 142 1462 1463 1464 146456 146664 1486 148738 148789 151056 152831 1543 1544 1545 1551 1555 1557 1558 1559 1571 1573 1576 1577 1579 1581 1583 1586 1588 1589 1591 1593 159371 1594 1595 1608 1609 1634 1636 1645 1646 170384 1717 1718 1737 1738 175 176 1798 1800 189 1890 1892 1942 1946 1962 2023 207 208 2131 217 218 2180 2181 2182 219 2194 2203 2215 221914 2220 2222 226 2262 22856 229 22914 22933 22934 230 231 23175 23205 23213 23236 23409 23423 2348 2350 23509 23583 23600 23659 239 240 248 250 2523 2524 2526 2527 2528 2529 252969 2530 2538 2539 2542 2583 2584 2589 2590 2592 2597 26033 26229 2645 26503 2673 2674 2675 2678 2683 2687 27163 2719 2720 27232 27294 27306 2731 27349 2739 2752 276 2762 277 278 28 2817 2819 2821 283748 283871 284348 284541 285704 2876 2877 2878 28992 29071 2923 2990 29940 2998 30 3036 3038 307 308 3098 3099 31 310 3157 3158 3161 3251 328 3284 3290 3291 3292 3294 3295 33 3339 3383 339390 3417 3418 3425 3481 3482 35 353 3556 3572 36 3635 3636 3795 38 3820 3821 3824 3897 39 3931 3939 3945 3952 3953 3956 3958 3960 3965 3992 4023 4051 4069 412 4124 4153 416 417 4199 4245 4248 4249 43 432 4350 4360 4507 4594 4595 4684 47 4758 48 4860 4907 4968 4973 4978 50 501 5019 5048 50515 50863 5091 50999 51 5105 5106 51084 5111 51179 51181 51196 51266 5130 51302 51477 51548 5160 5167 5168 5169 51763 5209 5210 5211 5213 5223 5226 5230 5236 5239 5287 5290 5291 5293 5294 5297 5313 5315 5319 5320 5321 5329 5330 5335 5336 54187 54490 54575 54577 54578 54600 54625 5465 54658 54675 5471 54898 5507 55247 55331 55343 5538 55512 5552 55568 5563 55753 55858 5589 55902 55959 56052 5621 5631 5652 5660 56623 56848 56898 56913 56994 570 57016 57103 57104 57124 5716 57214 5728 5742 5743 57733 5836 594 5973 6120 6185 6296 6319 6382 6383 6389 6390 6391 6392 6401 6402 6403 64083 641371 64419 64581 6470 6472 64761 6480 6484 64850 6487 65078 6514 6515 6517 6518 6523 6609 6610 6646 6652 6675 6713 6716 6783 6785 6820 684 6888 7086 7097 7099 7108 7124 7157 7167 7357 7358 7360 7363 7364 7366 7368 7372 7374 7412 781 7903 79071 79143 79603 79623 79661 79679 79888 7991 79947 79966 80168 80329 80339 811 81890 821 8277 8309 83639 83666 8398 8399 84076 8434 84342 8435 8443 84513 84649 847 8473 84750 84875 8505 8529 8540 85465 8547 8644 8658 873 8733 8794 8809 8821 8850 8869 8877 8930 8985 9061 9104 912 9126 91373 9173 9197 9200 9215 9245 929 933 9365 9370 94005 9415 9468 9514 9517 952 9536 960 9672 972 98 9976	Homo sapiens (human)
DOID:0060707	lymphoproliferative syndrome 1 Aliases: LPFS1	ACSBG1 ASAH2 CD14 CD22 CD38 CD44 CEL CNTN2 EBP FCER2 FCGR3B FH ICAM1 IL18R1 IL1R1 KLRB1 KLRD1 LGALS1 MLYCD MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC1 SLC27A5 SLC35B2 SMUG1 SOAT1	1056 10682 10998 2208 2215 2271 23205 23417 23583 3383 347734 3554 3820 3824 3956 4360 4684 5290 5291 5293 5294 5315 56624 6382 6646 6900 83666 8809 929 933 952 960	Homo sapiens (human)
DOID:4767	classic pulmonary blastoma	CD74	972	Homo sapiens (human)
DOID:9297	lip disease Aliases: disease of lips	CLEC7A OCRL	4952 64581	Homo sapiens (human)
DOID:0050589	inflammatory bowel disease	ABO ACACA ACAT1 ACAT2 ACE ACHE ACO2 ACSBG1 ACSL1 ACSS2 ADIPOQ AGA AKR1B10 ALDH5A1 ALDOB ALOX5 ALPI ALPP AMACR AMT AMY1A AMY1B AMY1C ARSA ARSF ASAH2 ATP6V0A2 B3GAT1 BCKDHA C1GALT1C1 CALR CAT CBR1 CD14 CD1D CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS1 CERS2 CHGA CHI3L1 CHPT1 CHST15 CHST2 CLEC10A CLEC12A CLEC16A CLEC7A CPT1A CTBS CYP19A1 CYP1A1 CYP21A2 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP3A4 CYP3A5 CYP4F2 CYP4F3 CYP7B1 DAG1 DHDDS DLD DPEP1 EFNA5 ELOVL7 ENO1 EPHX2 FADS1 FADS2 FASN FCER2 FCGR3B FCN2 FCN3 FH FUT2 FUT3 FUT4 G6PC3 GAL3ST1 GAL3ST2 GALC GALM GALNT2 GAPDH GGT1 GLB1 GP2 GPX1 GPX2 GUSB HADHA HMMR HPGDS HPRT1 HPSE HSD11B1 HSD11B2 HYAL2 ICAM1 ICAM2 IDH1 IDH2 IDUA IGF2 IL18R1 IL18RAP IL1R1 IL1RL1 IL1RL2 INPP5D IPMK ISYNA1 ITLN1 KLRK1 L1CAM LACC1 LCT LGALS1 LGALS2 LGALS3 LGALS4 LGALS9 LPIN2 LPL LTA4H LYZ MACROD2 MASP2 MBL2 MCAT ME1 MGAT1 MGAT3 MGAT5 MGLL MICA MPG MRC1 MTMR3 MUTYH NAAA NAMPT NCAM1 NEU1 NPL NT5E OGG1 PAFAH1B1 PARP1 PC PCYT1B PGAP3 PGD PGP PIGA PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG2 PNPLA3 PRKAA2 PRNP PSAP PSMD10 PTEN PTGDS PTGES PTGS1 PTGS2 REG1B RFT1 SDC1 SELE SELL SFTPA1 SFTPD SGPP1 SGPP2 SLC2A3 SLC2A5 SLC35A1 SLC39A8 SMPD1 SMUG1 SOAT1 SPHK1 ST6GALNAC1 STS SUCLA2 SULT1E1 TBXAS1 TIGAR TKT TNF TNFRSF10C TUSC3 UGT1A1 UGT1A7 ULBP1 UST VCAM1 VCAN VNN1 YDJC	100507436 10090 1012 10135 10462 1048 10559 10715 10747 10855 1087 1113 1116 11343 130367 130589 1374 140733 142 144811 1462 1486 150223 151056 1543 1555 1557 1559 1571 1573 1576 1577 1588 1589 1594 160364 1604 1605 1636 1738 175 1800 1946 2023 2053 2180 2194 2208 2215 2220 2271 229 22914 23205 23274 23545 23583 23600 23659 240 248 250 2524 2525 2526 253430 2581 2590 2597 2678 27087 27163 2720 27306 27349 275 276 277 278 28 2813 283871 2876 2877 29071 2990 29956 3030 30835 31 3161 3251 3290 3291 3383 3384 3417 3418 3425 3481 3554 3635 38 3897 39 3938 3956 3957 3958 3960 3965 3992 4023 4048 4051 4069 410 412 4153 416 4199 4245 4248 4249 43 4350 4360 4595 4680 4684 4758 4907 4968 50 5048 5091 51363 51477 5226 5277 5289 5290 5291 5293 5294 5315 5319 5320 5321 5336 54577 54658 55600 5563 55808 55902 5621 5660 56624 56994 57016 57103 5716 5728 5730 5742 5743 593 5968 6382 6401 6402 64090 64116 6441 64581 6515 6518 653509 6609 6646 6783 6916 7086 7124 7412 7915 7941 7991 79947 79993 80329 80339 80896 811 81537 8398 8399 847 8529 8547 8692 873 8794 8803 8807 8808 8809 8876 8877 8897 912 9173 91869 92579 929 93210 9370 9415 9420 9435 945 9468 9514 952 9536 960 9663 972	Homo sapiens (human)
DOID:0110165	Charcot-Marie-Tooth disease type 2E Aliases: CMT2E Charcot-Marie-Tooth neuropathy type 2E autosomal dominant Charcot-Marie-Tooth disease type 2E	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:1803	neuritis Aliases: peripheral neuritis	AMACR GLO1 PTEN SCP2 SMUG1	23583 23600 2739 5728 6342	Homo sapiens (human)
DOID:2640	struma ovarii	SMUG1	23583	Homo sapiens (human)
DOID:3702	cervical adenocarcinoma Aliases: adenocarcinoma cervix uteri adenocarcinoma of cervix adenocarcinoma of the uterine Cervix	ACE ADH1C AKR1B10 AKR1C3 ALPI ALPP ANXA5 APRT B3GNT3 B4GALT3 CACNA2D2 CALR CAT CD38 CD44 CD55 CDH13 CEACAM5 CEACAM7 CHI3L1 CLEC10A COMT CYP19A1 CYP1A1 CYP1B1 CYP2E1 CYP4F3 DCN DHCR24 EFNA2 FBP1 G6PD GALNT7 GCNT2 GLB1 GPC3 GPNMB GPX2 GPX3 HK2 HMMR HPGDS HPSE2 HPSE HS3ST2 ICAM1 IGF2R IL18R1 IL1R1 IL1RAP INPP4B ITPKC KL KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 LIPA LYPD5 MASP1 MASP2 MBD4 MBL2 MCAT MGLL MICA MMUT MPG MRC1 MSLN NT5E OGG1 OPCML PARP1 PARP2 PC PDIA3 PGD PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLPP1 PRKAA2 PRSS21 PTEN PTGS1 PTGS2 RECK RGN SDC1 SDHA SDHD SIRT2 SMUG1 SOAT1 ST3GAL3 ST3GAL4 ST6GAL1 ST6GALNAC5 STS STT3A TFF1 TKT TKTL1 TM7SF2 TNFRSF10C TP53 UGCG VTCN1 XPNPEP2	10038 100507436 1012 10232 10331 10457 10462 1048 10747 10855 1087 10942 1116 11343 126 1312 142 1543 1545 1571 1588 1604 1634 1636 1718 1943 2203 22914 22933 23583 248 250 2539 2651 2719 2720 27306 27349 284348 2877 2878 2923 308 3099 3161 3383 3482 353 3554 3556 3703 3897 3939 3956 3958 3965 3988 4051 412 4153 4350 4360 4594 4907 4968 4978 5091 51809 5226 5290 5291 5293 5294 5315 5321 5563 5648 57016 5728 5742 5743 60495 6382 6389 6392 6480 6484 6487 6646 7031 7086 7108 7157 7357 7512 79679 80271 811 81849 8277 8434 847 8611 8644 8703 8794 8809 8821 8930 9104 9254 9365 952 960 9956	Homo sapiens (human)
DOID:0060575	3MC syndrome 1	COLEC11 MASP1	5648 78989	Homo sapiens (human)
DOID:171	neuroectodermal tumor Aliases: primitive Neuroectodermal neoplasm	ABO AMACR ASAH1 B3GAT1 CD38 CEACAM5 CHGA ENO2 GAPDH HMMR HPGDS MELTF MRC1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SIGLEC7 UGCG	1048 1113 2026 23600 2597 27036 27087 27306 28 283871 3161 4241 427 4360 5290 5291 5293 5294 5728 5743 7357 952	Homo sapiens (human)
DOID:11563	retinal vasculitis	LGALS1	3956	Homo sapiens (human)
DOID:14269	suppurative cholangitis	CLEC16A FUT2 GAL3ST2 ICAM1 IL18R1 IL1R1 INPP5A MANBA MGLL PLA2G10 PLA2G2A PLA2G2D SMUG1 STS	11343 23274 23583 2524 26279 3383 3554 3632 412 4126 5320 64090 8399 8809	Homo sapiens (human)
DOID:0080334	aortic valve disease 2	ACAN ACE ALOX5 ARSD ATP6AP2 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CD14 CHST3 CTSA CYP11B2 CYP24A1 EBP ENO3 ENPP1 FCGR3B FH GAPDH GLB1 GNPTG IDUA LGALS3 LGALS4 MPG NT5E OGA OGT PIK3CA PIK3CB PIK3CD PIK3CG PSAP PTDSS1 SDC1 SDC4 SLC2A10 STS	10159 10682 10724 11285 126792 1585 1591 1636 176 2027 2215 2271 23545 240 2597 26229 2720 3425 3958 3960 412 414 4350 4907 5167 5290 5291 5293 5294 5476 5660 6382 6385 81031 84572 8473 929 9469 9791	Homo sapiens (human)

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