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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 **5101 - 5125** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:14116	multiple symmetric lipomatosis Aliases: LIPODYSTROPHY, CEPHALOTHORACIC LIPOMATOSIS, FAMILIAL BENIGN CERVICAL Launois-Bensaude's lipomatosis Madelung's neck cervical Symmetrical Lipomatosis multiple symmetrical lipomatosis	ACAN AMACR CEL CPM DCN PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 PTEN PYGM	1056 10908 1368 1634 176 23600 5290 5291 5293 5294 5728 5837	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:3137	obsolete multiple symmetrical lipomatosis	CEL PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 PTEN	1056 10908 5290 5291 5293 5294 5728	Homo sapiens (human)	DisGeNET
DOID:3382	liposarcoma Aliases: lipomatous cancer	CALR CD38 CPM ENPP2 FASN GPNMB KL NANS PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PNPLA3 PSMD10 PTEN SDC1 SMUG1 STS	10457 1368 142 2194 23583 412 5168 5290 5291 5293 5294 54187 57104 5716 5728 6382 80339 811 9365 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:5702	pleomorphic liposarcoma	CALR CD38 CPM ENPP2 FASN GPNMB KL NANS PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PNPLA3 PSMD10 PTEN SDC1 SMUG1 STS	10457 1368 142 2194 23583 412 5168 5290 5291 5293 5294 54187 57104 5716 5728 6382 80339 811 9365 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:11573	listeriosis Aliases: Infection by Listeria monocytogenes Listeria infection	CAT CD44 OCRL SIRT2 SLC5A1	22933 4952 6523 847 960	Homo sapiens (human)	DisGeNET
DOID:5082	liver cirrhosis Aliases: Cirrhosis cirrhosis of liver	ABO ACAT1 ACE ACHE ADH1A ADH1B ADH1C ADH4 ADH5 ADIPOQ AGA AGL AKR1A1 AKR1B10 AKR1B1 ALDH1B1 ALDH2 ALDH7A1 ALDOB ALOX5 ALPI ALPP ANXA5 APRT ARSH ATRNL1 CALR CAT CBR1 CD14 CD1D CD248 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM7 CERS6 CHI3L1 CHIT1 CHST3 CLEC7A CMAS CPT1A CPT2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP2R1 CYP3A4 CYP3A7 CYP4A11 CYP4F3 DCN DDOST DGKE DHCR7 DHDDS DLAT ENO1 ENPP2 EXTL3 FADS1 FCGR3B FCN2 FDFT1 FMOD FUT1 GALT GBA1 GCDH GCK GCLC GGT1 GLB1 GLO1 GLT8D2 GLUL GNPAT GOLPH3 GPAA1 GPC3 GPD1 GPNMB GPX1 HACD1 HAS2 HEXB HK2 HMGCS2 HPGDS HPSE HSD11B2 HSPG2 ICAM1 IDH1 IGF2 IGF2R IL1R1 INPP5D INPP5E ISYNA1 KL LALBA LDHA LGALS1 LGALS3 LGALS8 LGALS9 LIPA MASP1 MBL2 MBOAT7 MICA MLYCD MPI MSLN MTAP NAAA NAGLU NAMPT NANS NCAM1 NCAN NDST1 NT5E OGA OGT PARP1 PC PDIA3 PEMT PHKG2 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLB1 PMM2 PNPLA3 PNPLA6 PRKAA2 PSMD10 PTEN PTGDS PTGIS PTGS2 RBP4 RENBP RGN SCD SDC1 SDC2 SDC4 SFTPA1 SIGLEC1 SIRT2 SLC17A5 SLC27A5 SLC2A4 SLC33A1 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 ST6GAL1 ST8SIA4 STS SULF1 TALDO1 TBXAS1 TLR4 TM7SF2 TNF TYMP UGT1A1 UGT1A7 UMOD VCAM1	100507436 1012 10135 10232 10327 10400 10457 1048 10724 10855 1087 10908 10998 1116 1118 120227 124 125 126 127 128 1374 1376 142 1463 151056 1543 1544 1551 1555 1557 1571 1576 1579 1586 1588 1593 1594 1634 1636 1650 1717 1737 175 178 1890 2023 2137 217 219 2215 2220 2222 229 22933 231 23213 2331 23417 23583 240 248 250 2523 253782 2592 26033 2629 2639 2645 26503 2678 27163 2719 2720 2729 27306 2739 2752 28 2819 2876 2923 3037 3074 308 3099 3158 3291 3339 3340 3383 3417 347527 3481 3482 353 3554 3635 38 3906 3939 3956 3958 3964 3965 3988 3992 4051 412 4153 43 4351 4507 4669 4684 4907 501 5091 51477 5168 5261 5290 5291 5293 5294 5315 5319 5320 5321 5329 5373 54187 54577 54658 5563 55907 5648 56623 56848 57016 57124 5716 5728 5730 5740 5743 5950 5973 6319 6382 6383 6385 64083 64581 6480 6517 653509 6609 6614 6646 6888 6916 7099 7108 7124 7369 7412 7903 79143 79947 80339 811 83468 8398 8443 847 8473 8526 873 8733 8877 9104 912 9197 9200 929 9365 9370 9469 952 960 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:14018	alcoholic liver cirrhosis Aliases: Alcoholic Cirrhosis Alcoholic cirrhosis of liver Laennec's cirrhosis Laennec's cirrhosis, alcoholic Portal cirrhosis	ACE ADH1A ADH1B ADH1C ADH4 ADH5 AKR1A1 AKR1B1 ALDH1B1 ALDH2 ARSH CAT CD14 CEACAM5 CEL CERS6 CHI3L1 CHST3 CYP1A1 CYP2C19 CYP2E1 CYP4A11 FUT1 GGT1 GLUL GPC3 GPX1 HK2 HPGDS HSPG2 IL1R1 LEP MBOAT7 NAMPT NCAN NR1D1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA3 SELE SLC17A5 SPHK2 ST6GAL1 ST8SIA4 TBXAS1	10135 10327 1048 1056 1116 124 125 126 127 128 1463 1543 1557 1571 1579 1636 217 219 231 2523 253782 26503 2678 2719 27306 2752 2876 3099 3339 347527 3554 3952 5290 5291 5293 5294 56848 6401 6480 6916 7903 79143 80339 847 929 9469 9572	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:3571	liver cancer Aliases: Ca liver - primary Resectable malignant neoplasm of Liver hepatic cancer hepatic neoplasm malignant hepato-biliary neoplasm malignant neoplasm of liver malignant neoplasm of liver, not specified as primary or secondary malignant neoplasm of liver, primary malignant tumor of liver neoplasm of liver non-resectable primary hepatic malignant neoplasm primary liver cancer primary malignant neoplasm of liver resectable malignant neoplasm of the liver	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 AGA AGPS AGXT AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C2 AKR1C3 AKR1C4 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALDOB ALDOC ALG1 ALOX12 ALOX5 ALPI ALPP AMACR AMY1A AMY1B AMY1C ANXA4 ANXA5 ANXA7 APRT ARSF ART1 ASGR1 ATP6AP2 ATRNL1 B3GALNT2 B3GALT5 B3GALT6 B3GAT3 B4GALNT1 B4GALT1 B4GALT7 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 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 GNPAT GOLPH3 GPAA1 GPC1 GPC2 GPC3 GPC5 GPD1 GPI GPNMB GPX1 GPX2 GPX3 GUSB GYS2 HACD1 HAO2 HAS1 HAS3 HJV HK1 HK2 HMGCS2 HMMR HPGDS HPRT1 HPSE HSD11B1 HSD11B2 HSD17B1 HSD17B2 HSD17B4 HSD3B2 HSPG2 ICAM1 IDH1 IDH2 IDUA IGF2R IL18R1 IL1RAP IL1RAPL1 INPP4B INPP5D INPP5E INPP5K INPPL1 ISYNA1 KHK KL KLB KLRB1 KLRC1 KLRD1 KLRK1 L1CAM LARGE1 LCAT LDHA LDHB 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 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 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 TM7SF2 TMED3 TMED5 TMED6 TMEM165 TNFRSF10C TNKS 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 1594 1595 1608 1609 1634 1636 1645 1646 170384 1717 1718 1737 1738 175 176 1798 189 1890 1892 1942 1946 1962 2023 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 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 3158 3161 3251 3284 3290 3291 3292 3294 3295 33 3339 3383 339390 3417 3418 3425 3482 35 353 3556 36 3635 3636 3795 38 3820 3821 3824 3897 39 3931 3939 3945 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 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 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 7108 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 8869 8877 8930 8985 9061 9104 912 9126 91373 9197 9200 9215 9245 929 933 9365 94005 9415 9468 9514 9517 952 9536 960 9672 972 98 9976	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110334	osteogenesis imperfecta type 1 Aliases: OI1 osteogenesis imperfecta type I	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:2843	long QT syndrome Aliases: LQT long Q-T syndrome	ACADM ACSBG1 ALG10 ALG10B CNTN3 CYP1A1 KCNQ1 PTEN SCD SLC2A5 SQLE	144245 1543 23205 34 3784 5067 5728 6319 6518 6713 84920	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:384	Wolff-Parkinson-White syndrome Aliases: Anomalous A-V excitation Wolff-Parkinson-White pattern anomalous atrioventricular excitation	APRT ARSD B3GAT1 CNTN2 FCGR3B PRKAA2 PRKAG2 PRKAG3	2215 27087 353 414 51422 53632 5563 6900	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:13087	Lown-Ganong-Levine syndrome Aliases: atrial tachyarrhythmia with short PR interval syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias	APRT ARSD B3GAT1 CNTN2 FCGR3B PRKAA2	2215 27087 353 414 5563 6900	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0060317	lung abscess	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:850	lung disease	ABO ACE ACLY ACOD1 ALDH2 ALDH7A1 ALOX5 APEX1 ARSA ATP6V0A2 BST1 CALR CAT CD14 CD1D CD44 CD55 CEACAM5 CEACAM6 CEACAM7 CEL CHGA CHI3L1 CHIT1 CNTN2 CYP1A1 CYP27B1 CYP2C9 DCN DGKA DHCR24 DLD ENO1 ENO2 FCN2 FUT3 GLA GOLPH3 GPX1 GPX3 HMMR HPGDS ICAM1 IGF2R IL18R1 IL1RL1 ISYNA1 LDHC LGALS3 LGALS9 LTC4S MBL2 NAMPT NTM PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLCB3 PTEN PTGS1 PTGS2 RECK RENBP RGMA SFTPA1 SFTPA2 SFTPC SFTPD SLC27A5 SMUG1 SPHK2 TLR2 TLR4 TNF VCAN	10135 1048 1056 1087 10998 1113 1116 1118 1462 1543 1559 1594 1604 1606 1634 1636 1718 1738 2023 2026 217 2220 23545 23583 240 2525 2717 27306 28 2876 2878 3161 328 3383 3482 3948 3958 3965 4056 410 4153 4680 47 501 50863 51477 5290 5291 5293 5294 5320 5331 56848 56963 5728 5742 5743 5973 64083 6440 6441 653509 683 6900 7097 7099 7124 729238 730249 811 83666 8434 847 8809 912 9173 929 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:3083	chronic obstructive pulmonary disease Aliases: COLD COPD chronic obstructive airway disease chronic obstructive lung disease	ACE ACHE ACLY ACOT7 ACSS2 ADIPOQ AGPAT3 ALDH2 ALOX15 ALPI ALPP ANXA5 ARSA ARSB C1GALT1 CALR CAT CD14 CD1D CD33 CD38 CD74 CDH13 CEACAM5 CEL CH25H CHI3L1 CHIT1 CLEC7A CNTN4 COMT CS CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2E1 CYP3A5 CYP7B1 DCN DHCR24 EPHX2 FDPS FUT8 GAD1 GALC GALNS GALNT13 GLA GLB1 GM2A GPX1 GPX3 HAS2 HPGDS HSD11B1 HSD17B6 HTR2A HYAL1 ICAM1 IDS IL18R1 IL1RAP IL1RL1 INPP5D ISYNA1 ITPK1 KL KLRK1 LAYN LEP LEPR LGALS3 LGALS9 LTC4S MBL2 MRC1 NT5E NTM OGG1 PARP1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G4C PLAUR PLB1 PLCE1 POFUT1 PPARGC1A PRNP PTEN PTGDS PTGS1 PTGS2 RECK SARM1 SDC4 SDHB SELL SELP SFTPA1 SFTPA2 SFTPC SFTPD SGPL1 SGSH SIGLEC8 SIGLEC9 SIRT2 SIRT6 SLC27A5 SLC2A4 SLC35F3 SMPD1 SMPD3 SMUG1 SOAT1 SORD SPAM1 SPHK1 STS SUMF1 TLR4 TM7SF2 TNF TNFRSF10C UGCG VCAN	1012 1048 1056 10891 10998 1116 1118 11332 114805 1312 142 1431 143903 1462 148641 151056 152330 1543 1544 1545 1555 1571 1577 1634 1636 1718 2053 217 2224 22914 22933 23098 23509 23583 23659 246 248 250 2530 2571 2581 2588 26279 2717 27180 27181 2720 27306 2760 285362 2876 2878 3037 308 3290 3356 3373 3383 3423 3556 3635 3705 3952 3953 3958 3965 4056 410 411 412 4153 43 4360 47 4907 4968 50863 51196 51477 51548 5290 5291 5293 5294 5319 5320 5329 55512 55902 5621 56894 56913 5728 5730 5742 5743 6385 6390 6402 6403 6440 6441 6448 64581 6517 653509 6609 6646 6652 6677 7099 7108 7124 729238 7357 811 83666 8399 8434 847 8605 8630 8794 8809 8877 8879 9023 912 9173 929 9365 9370 9420 945 952 972	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:3683	lung benign neoplasm Aliases: tumor of the lung	ABO ACACA ACAT1 ACE ACHE ACLY ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSM1 ACYP2 ADH1B ADH1C ADH5 AKR1A1 AKR1B10 AKR1C1 AKR1C3 ALDH1A3 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALG1 ALOX12B ALPI ALPP AMACR AMY1A AMY1B AMY1C AMY2A AMY2B ANXA4 ANXA5 APRT ARSA ARSB ARSF ASAH1 ATP6AP2 ATRNL1 B3GAT1 B4GALT1 BPHL BST1 CACNA2D2 CALR CANX CAT CBR1 CD109 CD14 CD1D CD22 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS6 CHAT CHI3L1 CHKA CHKB CHPT1 CHST15 CHST7 CLEC10A CLEC1B CNTN1 COG8 COLGALT2 COMT CPT1C CRLS1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP3A5 CYP4F3 DCN DDOST DGKH DHCR24 DHDDS DHDH DLD EBP EFNA1 ELOVL6 ENO1 ENO2 ENO3 ENPP1 ENPP2 EPHX2 ERLEC1 EXTL3 FADS1 FADS2 FASN FBP1 FCN2 FDFT1 FOLR2 FUT10 FUT11 FUT1 FUT2 FUT3 FUT4 FUT5 FUT8 FUT9 G6PD GALC GALNS GALNT13 GALNT3 GAPDH GBE1 GCK GCNT1 GGT1 GGT5 GLB1 GLCE GLDC GLUL GOLPH3 GPC3 GPC5 GPI GPX1 GPX2 GPX3 HADHA HAS2 HK1 HK2 HKDC1 HMMR HPGDS HPRT1 HPSE HS3ST2 HSD11B2 HSD17B1 HSD17B6 HYAL1 HYAL2 ICAM1 ICAM2 IDH1 IDH2 IDS IDUA IGF2R IL18R1 IL1RL1 IMPA1 INPP4B INPP5D ISYNA1 ITPKB KL KLRB1 KLRK1 L1CAM LDHA LDHB LGALS1 LGALS3 LGALS8 LGALS9 LPCAT1 LPIN1 LPL LY6K LYPD5 MBD4 MBL2 MCAT ME1 ME2 MGAT5 MGLL MICA MMUT MOGS MPG MRC1 MSLN MTAP MTMR3 MUTYH NCAM1 NEIL2 NEU1 NT5E NTHL1 OGG1 OPCML PAFAH1B1 PARG PARP1 PC PCK2 PCYT1A PFKFB3 PFKFB4 PGAM1 PGD PGK1 PGP PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKLR PKM PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLB1 PLCD1 PLCE1 PLCG1 PLCH1 PLOD3 PLPP5 PNPLA2 POFUT1 PRG2 PRKAA2 PRNP PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 QTRT1 RECK REG1B REG3G RENBP RGN RPN2 SCD SDC1 SDC2 SDHC SELE SFTPA1 SFTPA2 SFTPC SFTPD SGMS1 SHMT1 SHMT2 SIRT2 SIRT4 SIRT6 SLC26A2 SLC2A10 SLC2A3 SLC2A5 SLC33A1 SLC5A1 SMC3 SMUG1 SOAT1 SPHK2 SQLE SRGN ST6GAL1 ST8SIA1 ST8SIA4 STS SULF1 SULF2 SULT1E1 TBXAS1 THEM4 TIGAR TM7SF2 TMED6 TNKS2 TNKS TPI1 TPST1 TREH TUSC3 TYMP UGDH UGT1A10 UGT1A1 UGT1A6 UGT1A7 UGT2B17 UGT8 ULBP1 UMPS UNG VCAM1 VCAN VTCN1 XXYLT1	100507436 1012 10159 10232 10327 10462 1048 10682 10690 10855 1087 1103 1116 11181 1119 1120 11332 11343 114805 116285 117145 125 126 126129 1272 128 130120 1312 135228 142 1462 146456 151056 152002 1543 1544 1545 1555 1557 1559 1571 1576 1577 1586 1588 1589 1591 1593 1594 1604 160851 1634 1636 1645 1650 170384 1718 1738 1836 1890 1942 2023 2026 2027 2053 2137 217 218 2180 2181 2182 2194 220 2203 2220 2222 226 2262 22914 22933 23007 23127 23175 23205 23213 23409 2350 23509 23583 23600 242 248 250 2523 2524 2525 2526 2527 252969 2530 253782 2539 2581 2588 2591 259230 2597 26033 26035 2632 2645 2650 2678 2683 2687 27087 2719 2720 27248 27294 27306 2731 27349 2752 276 277 278 279 28 280 2821 283871 284348 2876 2877 2878 3030 3037 307 308 3098 3099 31 3161 3251 3291 3292 3373 3383 3384 3417 3418 3423 3425 3482 353 3612 3635 3707 38 3820 3897 3939 3945 3956 3958 3964 3965 3992 4023 4051 410 411 412 4153 416 4199 4200 4249 427 43 4350 4360 4507 4594 4595 4680 4684 47 4758 4907 4913 4968 4978 501 5048 5091 5106 51196 51266 5130 51363 51477 51548 5167 5168 51703 5209 5210 5223 5226 5230 5289 5290 5291 5293 5294 5310 5313 5315 5319 5320 5321 5329 5333 5335 54575 54577 54578 54658 54675 54742 5552 5553 5563 55959 56052 5621 56548 56848 56994 57016 57103 57104 5728 5730 5740 5742 5743 5968 5973 6185 6319 6382 6383 6391 6401 64083 6440 6441 6470 6472 6480 6489 6515 6518 6523 653509 6646 670 6713 6783 683 6916 7108 7167 729238 7358 7367 7368 7372 7374 7412 7841 7903 79071 79679 79888 7991 79947 80201 80329 80351 81031 811 81890 821 8398 8399 8434 84342 84513 8460 847 84750 8505 8630 8644 8658 8692 873 8809 8821 8897 8930 8985 9104 912 9126 9173 9197 9254 929 933 9365 9415 945 952 9536 960 972 98 9956	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0050169	cutaneous lupus erythematosus	SOAT1	6646	Homo sapiens (human)	DisGeNET
DOID:8857	lupus erythematosus Aliases: lupus	ACE AKR1C4 BDH2 BST2 CALR CAT CD14 CD1D CD209 CD38 CD44 CD48 CD72 CDH13 CHST12 CYP1A1 CYP2B6 DGAT1 DLAT EFNA2 EPHX2 FCGR3B FCN2 GPI HSPG2 ICAM1 KLRK1 LCT LGALS3 LGALS9 MASP1 MBL2 MRC1 NT5E PARP1 PC PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2R1 PNP PTGS1 PTGS2 SDC2 SELP SGMS1 SIGLEC1 SPHK2 SRGN UMOD VCAM1 VTCN1	1012 1109 142 1543 1555 1636 1737 1943 2053 2215 2220 22914 22925 259230 2821 30835 3339 3383 3938 3958 3965 4153 4360 4860 4907 5091 5230 5290 5291 5293 5294 55501 5552 5648 56848 56898 5742 5743 6383 6403 6614 684 7369 7412 79679 811 847 8694 912 929 952 960 962 971	Homo sapiens (human)	DisGeNET DisGeNET
DOID:9074	systemic lupus erythematosus Aliases: Lupus Erythematosus, systemic SLE - Lupus Erythematosus, systemic disseminated lupus erythematosus	ACACA ACE ACSL4 ACSL5 AKR1C4 ALG1 ANXA5 APRT ARSA ARSF BCKDHB BDH2 BST2 CALR CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD72 CD74 CDH13 CEPT1 CHST12 CLEC16A CLEC7A CNTN6 COG6 COMT CYP19A1 CYP1A1 CYP21A2 CYP24A1 CYP2B6 CYP2C19 CYP2E1 CYP3A5 DAG1 DGAT1 DGKQ DLAT EFNA2 EFNA5 ENO1 EPHX2 FCGR3B FCN2 FCN3 FH FUT2 GALC GCK GLO1 GPI HPGDS HPRT1 HSD11B1 HSD17B6 HSPG2 ICAM1 ICAM5 IL18R1 IL18RAP IL1R1 IL1RAP INPP5D KLRB1 KLRC1 KLRD1 KLRK1 L1CAM LCT LGALS1 LGALS3 LGALS8 LGALS9 LYZ MAN2A1 MASP1 MASP2 MBD4 MBL2 MDGA2 MGAT5 MICA MRC1 MTMR3 NCAM1 NEU1 OGG1 PARP1 PC PDHX PGK1 PGM1 PIGF PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLA2R1 PLB1 PLD2 PLD4 PNP PRKAA2 PRPS2 PTEN PTGDS PTGS1 PTGS2 RECK RENBP SCD5 SDC1 SDC2 SELE SELL SELP SEMA7A SFTPD SGMS1 SIGLEC12 SIGLEC1 SIGLEC5 SIGLEC6 SLC2A4 SLC39A8 SMPD1 SMUG1 SOAT1 SPHK2 ST8SIA4 TNF TNFRSF10C TPI1 UMOD VCAM1 VTCN1	100507436 1012 10390 10747 1109 122618 1312 142 151056 1543 1555 1557 1571 1577 1588 1589 1591 1605 1609 161357 1636 1737 1943 1946 2023 2053 2182 2215 2220 2271 22914 22925 23274 23583 2524 2581 259230 2645 27255 27306 2739 2821 308 31 3251 3290 3339 3383 353 3554 3556 3635 3820 3821 3824 3897 3938 3956 3958 3964 3965 4069 410 4124 4153 416 4249 4360 4684 4758 4860 4968 5091 51703 5230 5236 5281 5286 5290 5291 5293 5294 5320 5338 55501 5563 56052 5634 5648 56848 56898 5728 5730 5742 5743 57511 594 5973 6382 6383 6401 6402 6403 64116 6441 64581 6517 6609 6614 6646 684 7087 7124 7167 7369 7412 7903 79679 79966 8050 811 8434 847 8482 8547 8630 8694 8778 8794 8807 8809 8897 8930 89858 912 929 933 945 946 952 960 962 971 972	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080162	lupus nephritis	ACE AGA ALG1 CALR CD38 CD44 CD74 CLEC7A CYP2B6 CYP2C19 CYP3A5 ENO1 EPHX2 EXT1 EXT2 FCGR3B FCN1 FCN2 FCN3 HPSE HSPG2 ICAM1 LGALS3 LGALS9 MBL2 OGG1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2R1 PTEN PTGDS PTGS1 PTGS2 SDC2 TNF VCAM1 VTCN1	10855 1555 1557 1577 1636 175 2023 2053 2131 2132 2215 2219 2220 22925 3339 3383 3958 3965 4153 4968 5236 5290 5291 5293 5294 56052 5728 5730 5742 5743 6383 64581 7124 7412 79679 811 8547 952 960 972	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:11729	Lyme disease Aliases: Bannwarth syndrome Bannworth's syndrome Lyme borreliosis Neurological Lyme disease lyme neuroborreliosis neuroborreliosis	ACAN ALOX5 CALR CANX CD14 CD38 CD48 DAG1 DCN ENO1 ENO2 FCN2 FOLR2 GOLPH3 HACD1 HK1 HPGDS MBL2 PLAUR PTGES3 PTGS1 PTGS2 VCAM1	10728 1605 1634 176 2023 2026 2220 2350 240 27306 3098 4153 5329 5742 5743 64083 7412 811 821 9200 929 952 962	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1602	lymphadenitis Aliases: Adenitis Inflammation of lymph node acute adenitis acute lymphadenitis chronic Lymphadenitis chronic adenitis	CYP24A1 NTM PTEN	1591 50863 5728	Homo sapiens (human)	DisGeNET
DOID:4977	lymphedema Aliases: Lymphatic edema Lymphoedema	AKR1B1 ALG8 GLA GUSB INPPL1 MPI NAGA NCAM1 PIK3CA PMM2 PTEN SLC35D1 SMUG1	231 23169 23583 2717 2990 3636 4351 4668 4684 5290 5373 5728 79053	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4347	lymphocele Aliases: Lymph cyst	ABO	28	Homo sapiens (human)	DisGeNET

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