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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 **3451 - 3475** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:3010	lobular neoplasia Aliases: Lobular Intraepithelial Neoplasia lobular carcinoma in situ	CYP2B6 CYP2C19 EPHX2 FUCA1 HPRT1 PTGS2 SMUG1	1555 1557 2053 23583 2517 3251 5743	Homo sapiens (human)
DOID:893	Wilson disease Aliases: Cerebral pseudosclerosis Westphal pseudosclerosis Westphal-Strumpell syndrome Wilson's disease hepatolenticular degeneration	ACACA ACE ACO1 AKR1D1 ALPP ANXA5 ARSA ATRNL1 CALR CAT CCDC115 CYP27B1 G6PD GALNS GLUL GNPAT GPX1 HJV IL1R1 NDUFAB1 PNPLA3 PRNP SLC17A5 SLC39A8 SMPD1 VCAM1	148738 1594 1636 250 2539 2588 26033 26503 2752 2876 308 31 3554 410 4706 48 5621 64116 6609 6718 7412 80339 811 84317 8443 847	Homo sapiens (human)
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:0080351	CLOVES syndrome Aliases: congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	ARSD ASAH1 CD48 CSPG5 GPC3 IGF2R IL1RL1 LGALS1 PGAP2 PIK3CA SMUG1	10675 23583 2719 27315 3482 3956 414 427 5290 9173 962	Homo sapiens (human)
DOID:0080998	acute necrotizing pancreatitis	ICAM1 PDX1 SELP TBXAS1 TLR2 TLR4	3383 3651 6403 6916 7097 7099	Homo sapiens (human)
DOID:10141	obsolete asthenopia	ALDH2 ALDH3A2 CA4 CACNA2D4 CHST6 CTNS ELOVL1 HADHA HGSNAT HK1 IDH3A IDH3B PCYT1A PIKFYVE PLCD1 PNPLA6 POMGNT1 SPHK2	10908 138050 1497 200576 217 224 3030 3098 3419 3420 4166 5130 5333 55624 56848 64834 762 93589	Homo sapiens (human)
DOID:0050332	enlarged vestibular aqueduct	RENBP SMUG1	23583 5973	Homo sapiens (human)
DOID:0080319	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Aliases: XMEN	CD22 CD38 KLRK1	22914 933 952	Homo sapiens (human)
DOID:0060728	NGLY1-deficiency Aliases: NGLY1-CDDG congenital disorder of deglycosylation congenital disorder of glycosylation type Iv deficiency of N-glycanase 1	ENGASE NGLY1 PGM1	5236 55768 64772	Homo sapiens (human)
DOID:0110256	cataract 21 multiple types Aliases: CTRCT21 cataract 21 multiple types with or without microcornea	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:8924	autoimmune thrombocytopenic purpura Aliases: Immune thrombocytopenic purpura idiopathic thrombocytopenic purpura primary thrombocytopenic purpura	ABO ACSBG1 CD38 CD44 CD72 CLEC1B FCGR3B FCN2 GALC HPSE2 HPSE IL1R1 KLRD1 LGALS9 MBD4 MBL2 MICA MRC1 NCAM1 PNP PTEN PTGS1 PTGS2 SELE SELP SMPD1 STS VNN1	100507436 10855 2215 2220 23205 2581 28 3554 3824 3965 412 4153 4360 4684 4860 51266 5728 5742 5743 60495 6401 6403 6609 8876 8930 952 960 971	Homo sapiens (human)
DOID:2978	carbohydrate metabolic disorder Aliases: disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism	ACAT1 MPI OXCT1 SLC2A1 TALDO1 TPI1	38 4351 5019 6513 6888 7167	Homo sapiens (human)
DOID:0110770	hereditary spastic paraplegia 17 Aliases: SPG17 Silver spastic paraplegia syndrome Silver syndrome autosomal dominant spastic paraplegia 17 autosomal dominant spastic paraplegia type 17 dHMN5B distal hereditary motor neuropathy type 5B spastic paraplegia with amyotrophy of hands and feet spastic paraplegia-amyotrophy of hands and feet	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0050454	periventricular nodular heterotopia Aliases: periventricular heterotopia	DHCR7 MAN1B1 PAFAH1B1 SMUG1 TMTC3	11253 160418 1717 23583 5048	Homo sapiens (human)
DOID:8858	tonsil cancer Aliases: malignant Tonsillar tumor malignant neoplasm of faucial tonsil malignant neoplasm of palatine tonsil malignant neoplasm of tonsil, faucial malignant tumor of tonsil	PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1	23583 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:13832	patent ductus arteriosus Aliases: Patent ductus Botalli	ACE ACSL4 ALG12 ALG8 ARSD ART3 B3GLCT CD14 CD44 CEACAM6 CHST15 CLEC7A COMT CRYBG1 CYP19A1 CYP1B1 CYP2C19 CYP2C9 CYP4F2 CYP4F3 DHCR24 DPM1 ENO1 FASN G6PC3 GLB1 GPC3 IDH1 INPP5E LGALS1 LGALS3 LGALS9 MASP1 MBL2 MSLN NAMPT NTNG1 PARP1 PDHX PIGN PIGQ PIGT PIK3CA PIK3CB PIK3CD PIK3CG PLB1 PTEN PTGES PTGIS PTGS2 RECK SMPD2 STS TALDO1 TFAP2B TKT UMPS	10135 10232 1312 142 145173 151056 1545 1557 1559 1588 1636 1718 202 2023 2182 2194 22854 23556 2719 2720 3417 3956 3958 3965 4051 412 414 4153 419 4680 51363 51604 5290 5291 5293 5294 5648 56623 5728 5740 5743 64581 6610 6888 7021 7086 7372 79053 79087 8050 8434 8529 8813 9091 92579 929 9536 960	Homo sapiens (human)
DOID:809	cocaine abuse	ABAT COMT EXTL3 FDFT1 GAD1 GAD2 HTR2A MANEA NPY1R NTNG1 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 RECK SMUG1 UMOD	1312 18 2137 2222 22854 23583 2571 2572 3356 4886 5290 5291 5293 5294 5563 7369 79694 8434	Homo sapiens (human)
DOID:10845	St. Louis encephalitis Aliases: Neuroinvasive St. Louis encephalitis virus infection	ACE CALR CAT CD14 CD33 CD48 FCN2 GLT1D1 LGALS1 MICA PIK3CD SELL SELP SEMA7A SGMS1 SIGLEC1 SOAT1	100507436 144423 1636 2220 259230 3956 5293 6402 6403 6614 6646 811 847 8482 929 945 962	Homo sapiens (human)
DOID:0060556	Kufor-Rakeb syndrome Aliases: autosomal recessive Parkinson disease 9 autosomal recessive juvenile onset Parkinson disease 9	PLA2G1B PLB1	151056 5319	Homo sapiens (human)
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:0050873	follicular lymphoma	AKR1C4 ALOX5 ATP6AP1 CD38 CD44 CD55 CHIT1 FBP1 FCER2 FH GAPDH GBA1 GPX1 HPGDS HSD11B2 KDSR LPL MASP2 MBL2 MCAT NAMPT NCAM1 OGG1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SDC1 SLC35B2 SMUG1	10135 10747 1109 1118 1604 2203 2208 2271 23583 240 2531 2597 2629 27306 27349 2876 3291 347734 4023 4153 4684 4968 5290 5291 5293 5294 537 5728 6382 952 960	Homo sapiens (human)
DOID:13515	tuberous sclerosis Aliases: Bourneville's disease Epiloia Tuberose sclerosis Tuberous sclerosis syndrome cerebral sclerosis	ABO ACAN ACE ACHE ACSM3 ACSS2 ADH1B ADH1C AKR1C1 AKR1C4 AKR1D1 ALDH1A3 ALDH2 ALG9 ALOX5 ALPP AMACR ANXA5 APRT ARSD ARSH ATRNL1 B3GAT3 CANX CAT CBR1 CD109 CD44 CEACAM5 CEACAM7 CFC1 CH25H CHAT CHST14 CLEC1B CYP17A1 CYP1A2 CYP1B1 CYP2B6 DAG1 DCN DGKK DHCR24 DHCR7 DOLK EBP ENOSF1 EXT2 FBP1 FCGR3B FCN2 FIG4 FUT2 G6PC3 GAL3ST1 GAS1 GCK GLDC GLUL GPC3 GPC5 HEXD HPRT1 ICAM1 IDH1 IDS IL1RAPL1 INPP4A INPP5D KLRC1 LFNG LIPA MAG MASP1 MLYCD MRC1 NAAA NDUFAB1 NEU1 NTHL1 OGA OGG1 PAFAH1B1 PAPSS2 PDHA2 PGAP3 PGD PGM1 PIGA PIGN PIGO PIGP PIGT PIGV PIGY PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G15 PLB1 PLCD1 PMM2 POMT1 POMT2 PRKAA2 PRKCSH PRNP PSAP PTEN PTGDS PTGS1 PTGS2 SC5D SCD SDC2 SDHB SDHC SDHD SGPL1 SHMT1 SIGLEC1 SIGLEC7 SIRT6 SLC33A1 SLC35A1 SLC35A3 SLC3A1 SMC3 SORD SRD5A3 SULT1E1 TECR TGDS TKT TMEM165 VCAN	1048 10559 10585 10682 10724 1087 1103 1109 11141 113189 125 126 135228 139189 1462 151056 1544 1545 1555 1586 1605 1634 1636 1645 1717 1718 176 2132 217 220 2203 2215 2220 2262 22845 23417 23443 23483 23556 23600 23659 240 250 2524 26033 2619 26229 2645 27036 27163 2719 2731 2752 28 284004 29954 308 3251 3383 3417 3423 347527 353 3631 3635 3821 3955 3988 4099 414 43 4360 4706 4758 4913 4968 5048 51227 51266 51548 51604 5161 5226 5236 5277 5289 5290 5291 5293 5294 5310 5311 5333 5373 55556 5563 55650 55858 5589 55902 55997 5621 5648 5660 5728 5730 5742 5743 6296 6309 6319 6383 6390 6391 6392 6470 6519 6614 6652 6718 6783 7086 79644 79796 821 847 84720 84992 873 8879 9023 9060 9126 9197 92579 93210 9514 9524 960 9896	Homo sapiens (human)
DOID:0050632	oculocutaneous albinism	CALR CANX G6PC3 IDS PIK3CA PTEN	3423 5290 5728 811 821 92579	Homo sapiens (human)
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)
DOID:2349	arteriosclerosis Aliases: Arteriosclerotic vascular disease	ABO ACACA ACAN ACAT1 ACE ACER2 ACLY ACOT7 ACSL1 ACSS2 ADH5 AGPAT2 AGXT AKR1B10 AKR1B1 ALDH2 ALDH3A1 ALOX12 ALOX15B ALOX5 ALPL ANXA5 APRT ARSB ARSI ATP6AP2 ATP6V0A2 CACNA2D4 CALR CANX CAT CD14 CD1D CD248 CD44 CD74 CDH13 CEL CH25H CHGA CHI3L1 CHIT1 CHST3 CLEC4E CLEC5A CLEC6A CLEC7A CLEC9A CNTN3 COLEC12 COMT CPT2 CSGALNACT2 CTBS CYP19A1 CYP1A1 CYP1A2 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP3A4 CYP3A5 CYP4F2 CYP7A1 DAG1 DCN DGAT1 DHCR24 DLD ELOVL6 ENPP1 ENPP7 EPHX2 FADS1 FADS2 FCGR3B FDPS FMOD FOLR2 FUT3 FUT7 FUT8 GAL3ST1 GCK GLO1 GPI GPIHBP1 GPX1 H6PD HACD4 HAS2 HAS3 HPGDS HPSE HS3ST1 HSD11B1 HSPG2 ICAM1 IDH2 IGF2R IL1RL1 IL6ST INPP5D INPP5K KL KLRK1 LCAT LDHA LEPR LGALS3 LIPA LIPC LIPG LPCAT3 LPL LTA4H LYPLA1 LYZ MBL2 MGLL MICA MMP17 MRC1 MTAP NAAA NAGLU NAMPT NANS NDUFAB1 NEU1 NT5E OGA OGG1 OLR1 PARP1 PARP3 PC PCYT1B PEMT PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G12A PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G4A PLA2G4C PLA2G6 PLA2G7 PLAUR PLB1 PLPP3 PNP PNPLA2 PNPLA3 PPP1R3B PRKAA2 PRNP PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 RENBP SCD SCP2 SDC1 SDC4 SELE SELL SELP SEMA7A SFTPA1 SFTPA2 SFTPD SGMS1 SGMS2 SGPL1 SIGLEC1 SIGLEC9 SIRT2 SIRT6 SLC17A5 SLC33A1 SLC35A1 SLC39A8 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SOAT2 SPHK1 SPHK2 ST3GAL4 ST6GAL1 ST8SIA1 STS SUCLA2 TBXAS1 TLR4 TM7SF2 TPI1 TYMP UMOD VCAM1 VCAN VNN1	10039 100507436 1012 10135 10159 10162 10400 10434 10555 10559 1056 10724 10855 1113 1116 1118 11332 11343 128 1312 1376 142 1462 1486 151056 1543 1544 1555 1557 1558 1559 1571 1573 1576 1577 1581 1588 1593 1594 1605 1634 1636 166929 1718 1738 176 189 1890 2053 217 218 2180 2215 2224 22914 22933 231 2331 2350 23545 23583 23601 23659 239 240 247 249 2525 2529 2530 259230 26253 26279 2645 26503 27163 27180 27306 2739 28 2821 283420 2876 3037 3038 308 31 3290 3339 3383 338328 339221 340075 340485 3418 3482 353 3572 3635 38 3931 3939 3953 3958 3988 3990 3992 401494 4023 4048 4069 411 412 4153 4326 4360 4507 4669 47 4706 4758 4860 4907 4968 4973 5067 5091 51548 5167 51763 5290 5291 5293 5294 5315 5319 5320 5321 5329 54187 55454 55512 5563 55902 5621 56848 57016 57104 57124 5728 5730 5740 5742 5743 5973 6319 6342 6382 6385 6401 6402 6403 64116 6441 64581 6480 6484 6489 653509 6609 6610 6614 6646 6916 7099 7108 7167 729238 7369 7412 79071 7941 79660 80339 81035 811 81579 821 8398 8399 8435 847 8482 8529 8605 8613 8694 8803 8876 8877 8879 9023 912 9173 9197 929 93589 9365 9388 93978 9415 9468 9469 9514 9536 9563 960 972 9957	Homo sapiens (human)

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