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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 **1451 - 1475** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:11949	Creutzfeldt-Jakob disease Aliases: CJD Creutzfeldt Jacob syndrome Creutzfeldt Jakob disease Creutzfeldt-Jacob disease Jakob-Creutzfeldt disease Subacute spongiform encephalopathy Transmissible virus dementia	ACE ACHE ALG1 ALG3 ALPI ALPP AMT CAT CD33 CHGA CHI3L1 CHIT1 CYP46A1 DHCR24 ENO1 ENO2 FCN2 G6PD GALC GAPDHS GPI HPRT1 IDUA IGF2R INPP5D LGALS3 MDH1 MMUT MTMR7 NCAM1 OGDH PGAM1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLCG2 PRNP PTGES3 PTGS1 PTGS2 SDC3 SLC2A4 SMUG1 SRD5A3 STS SUCLA2 SULT1E1 SYNJ1 TPI1	10195 10728 10858 1113 1116 1118 1636 1718 2023 2026 2220 23583 248 250 2539 2581 26330 275 2821 3251 3425 3482 3635 3958 412 4190 43 4594 4684 4967 5223 5290 5291 5293 5294 5310 5336 56052 5621 5742 5743 6517 6783 7167 79644 847 8803 8867 9108 945 9672	Homo sapiens (human)
DOID:0110759	type 1 diabetes mellitus 22 Aliases: IDDM22 Insulin-Dependent Diabetes Mellitus 22	ABO ACAN ACE ACOT7 ACSL1 ADH5 AGA AGPAT1 AKR1A1 AKR1B1 ALDH2 ALDH3A2 ALOX12 ALOX15B ALOX5 AMY2A ANXA5 APRT B3GAT1 B4GALNT1 B4GALT1 BAAT CAT CBR1 CD14 CD1D CD209 CD38 CD44 CD48 CD74 CDH13 CEACAM5 CEPT1 CHAT CHST3 CLEC16A CSGALNACT1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2E1 CYP2R1 CYP7A1 DCN DDOST DGCR2 DHCR7 DLAT EFNA1 ENO2 ENPP1 FASN FCER2 FCGR3B FCN2 FKRP FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNT3 GBA3 GCK GLA GLB1 GLO1 GLUL GPI GPX1 GPX3 GYS1 HK1 HK2 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HSD11B1 HSD11B2 HSD17B4 HSPG2 ICAM1 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPPL1 IPPK ISYNA1 KL KLRC3 KLRD1 LDHC LGALS1 LGALS3 LIPC LPL LY6G6D LYPD5 MASP2 MBL2 MGAT1 MGAT5 MICA MIOX NAAA NAMPT NCAM1 OGA PARP1 PDHX PFKFB3 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2C PLA2G6 PLA2G7 PNPLA3 PRKAA2 PRKCSH PTEN PTGS2 REG1B RENBP SCD SDC2 SELE SELL SELP SIRT2 SIRT6 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A8 SLC35A1 SLC35G1 SLC37A4 SLC5A1 SOAT1 ST3GAL4 SULT1E1 TKT TM7SF2 UGT1A1 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	100507436 1012 10135 10327 10390 1048 10554 10559 10724 10747 10855 1103 11332 120227 128 142 1462 154091 1571 1581 1589 1591 1593 159371 1594 1634 1636 1650 1717 1737 175 176 1942 2026 217 2180 2194 2208 2215 2220 224 22933 231 23274 239 240 247 2524 2538 2539 2542 2571 2572 2583 2591 2645 2683 27087 27163 2717 2720 27306 2739 2752 279 28 2821 283871 284348 2876 2878 2997 29988 308 30835 3098 3099 3158 3251 3290 3291 3295 3339 3383 3482 353 3554 3635 3636 3823 3824 3948 3956 3958 3990 4023 4153 4245 4249 4684 51477 51548 5167 5209 5236 5290 5291 5293 5294 54658 55586 5563 55790 5589 570 5728 5743 57733 57818 58530 5968 5973 60495 6319 6383 6401 6402 6403 64131 64132 64768 6484 6514 6515 6517 6523 6646 6783 7086 7108 7369 7412 79147 7941 79679 79837 80339 8050 8398 847 873 8807 8809 912 9173 929 9365 9469 9514 952 960 962 972 9993	Homo sapiens (human)
DOID:10792	chronic maxillary sinusitis Aliases: chronic antritis	NT5E	4907	Homo sapiens (human)
DOID:2942	bronchiolitis	ATP6AP2 CD14 CD38 FUT2 ICAM1 IL1RL1 ISYNA1 KLRK1 MBL2 PLCG2 PTGDS SFTPA1 SFTPD	10159 22914 2524 3383 4153 51477 5336 5730 6441 653509 9173 929 952	Homo sapiens (human)
DOID:0070314	obstructive nephropathy Aliases: CON congenital obstructive nephropathy	PIK3CA PIK3CB PIK3CD PIK3CG VNN1	5290 5291 5293 5294 8876	Homo sapiens (human)
DOID:0110264	cataract 33 Aliases: CTRCT33	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:0060260	ptosis Aliases: blepharoptosis drooping eyelid	ADPRS AGRN ALDOA ALG14 ALG2 ATP6V1A B3GLCT CHAT COLEC10 COLEC11 COMT DLAT DPAGT1 EBP ECHS1 GCK GFPT1 GMPPB HACD1 HS6ST1 IDS INPP5E MASP1 MTM1 MTMR14 NGLY1 PDHA1 PIGL PIGQ PLCB4 PTEN SC5D SDHA SDHD SGPL1 SLC17A5 SLC3A1 SMC3 SUCLA2 SYNJ1 TYMP	10584 10682 1103 1312 145173 1737 1798 1890 1892 199857 226 2645 26503 2673 29925 3423 375790 4534 5160 523 5332 54936 55768 5648 56623 5728 6309 6389 6392 64419 6519 78989 85365 8803 8867 8879 9091 9126 9200 9394 9487	Homo sapiens (human)
DOID:13902	white piedra Aliases: Tinea blanca	ABO ATP6V1A CAT CD14 CD209 CLEC1A CLEC7A CYP2C19 CYP51A1 LGALS1 MBL2 MRC1	1557 1595 28 30835 3956 4153 4360 51267 523 64581 847 929	Homo sapiens (human)
DOID:8283	peritonitis Aliases: Retractile mesenteritis acute generalized peritonitis primary bacterial peritonitis sclerosing mesenteritis	ALDOB GUSB TNF	229 2990 7124	Homo sapiens (human)
DOID:9970	obesity	AACS ABO ACACA ACACB ACADM ACADVL ACAN ACAT1 ACE ACHE ACLY ACOX1 ACSL1 ACSL4 ACSL5 ACSM3 ACSS2 ADH1B ADIPOQ ADRB3 AGPAT2 AKR1A1 AKR1B1 AKR1C1 AKR1C2 AKR1C3 AKT2 ALDH1B1 ALDH2 ALDH6A1 ALDOB ALG13 ALOX12 ALOX5 ALPL AMACR AMY1A AMY1B AMY1C APOD APRT ARSA ARSD ASAH1 ASAH2 ATP6AP2 ATRN B4GALT5 BAAT BAD CA4 CALR CANX CAT CBR1 CD14 CD1D CD248 CD33 CD38 CD44 CD48 CD74 CDH13 CEACAM5 CEL CEPT1 CERK CERS6 CHGA CHI3L1 CHIT1 CHPT1 CHST3 CLEC7A CMAS CNTN3 CNTN4 COMT CPT1A CPT1C CPT2 CS CYP11A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP2R1 CYP3A4 CYP4F2 CYP4F3 CYP7A1 DAG1 DCN DEGS1 DEGS2 DGAT1 DGAT2 DGKE DGKG EBP ECHS1 ELOVL5 ELOVL6 ENO2 ENPP1 ENPP2 FADS1 FADS2 FASN FCGR3B FDFT1 FDPS G6PC1 G6PD GAD2 GAL3ST1 GALNT2 GAPDH GCK GFPT1 GGT1 GHRL GK GLB1 GLDC GLO1 GLUL GNPDA2 GPAM GPAT3 GPCPD1 GPD1 GPIHBP1 GPX1 GPX3 H6PD HADH HADHA HAS2 HEXA HGSNAT HJV HK1 HK2 HMGCS1 HPGDS HPSE HS6ST1 HS6ST3 HSD11B1 HSD11B2 HSD17B12 HSD17B1 HSD17B3 HSD17B4 HSPG2 HTR2A ICAM1 IDH3A IDH3B IL1R1 IL1RAP IL1RAPL1 INPP5E INPPL1 ITLN1 KHK KL KLB LALBA LCAT LCT LEP LEPR LGALS1 LGALS3 LIPA LIPC LIPG LPGAT1 LPIN1 LPIN2 LPIN3 LPL LY75 MACROD2 MBL2 MBOAT7 MCAT ME1 MGAM MGAT1 MGAT2 MGLL MIOX MLYCD MMUT MOGS MRC1 MSMO1 MTMR14 NAAA NAMPT NANS NCAM1 NDUFAB1 NEIL1 NPY1R OGA OGG1 OGT OLR1 OXCT1 PARP1 PARP2 PARP9 PC PCK1 PCK2 PDX1 PEMT PFKFB3 PFKP PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G15 PLA2G2A PLA2G2E PLA2G4A PLA2G5 PLA2G7 PLAUR PLB1 PLCB1 PLCB2 PLCB3 PLD1 PNLIP PNPLA2 PNPLA3 PNPLA6 POMGNT1 PPARA PPARGC1A PPP1R3B PPP1R3G PRKAA1 PRKAA2 PRNP PTEN PTGDS PTGES2 PTGES PTGS1 PTGS2 RBP4 RENBP RGMA SCD SCP2 SDC1 SDC2 SDC3 SELP SERPINA12 SFTPA1 SFTPA2 SFTPD SGMS2 SGPL1 SI SIGLEC12 SIRT2 SIRT4 SIRT6 SLC17A5 SLC27A5 SLC2A1 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A1 SLC35B2 SLC35D3 SLC35G1 SLC37A4 SLC5A1 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SRD5A1 ST6GAL1 STS SUCLA2 SULF2 SULT1E1 TIGAR TKTL1 TLR4 TM7SF2 TNF TNKS UCP2 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 VCAM1 WDTC1 XXYLT1 XYLT2	10038 1012 10135 10159 10327 10390 10400 1048 10555 10559 1056 10682 10724 10855 10891 10908 10998 1113 11141 1116 1118 11343 120227 123099 125 126129 1312 132789 1374 1376 138050 140733 142 1431 145264 148738 151056 152002 152330 152831 1543 1544 1545 155 1555 1559 1571 1576 1581 1583 1588 1589 1591 1593 159371 1594 1605 1608 1634 1636 1645 1646 166929 176 1892 2026 208 217 2180 2182 219 2194 2215 2222 2224 229 22933 23038 231 23175 23236 23409 23417 23583 23600 23659 239 240 249 253782 2538 2539 2542 2572 2590 2597 2645 26503 266722 2673 2678 2710 27163 2720 27306 2731 27349 2739 2752 276 277 278 28 2819 2876 2878 3030 3033 3037 3073 30814 3098 3099 31 3157 32 3290 3291 3292 3293 3295 3339 3356 3383 338328 34 340146 3419 3420 347 347734 353 3554 3556 3636 3651 37 3795 38 3906 3931 3938 3952 3953 3956 3958 3988 3990 3992 4023 4051 4065 410 412 414 4153 4199 4245 4247 427 43 4329 4360 4594 4684 47 4706 4886 4968 4973 5019 5067 5091 51 5105 5106 51144 51548 5167 5168 51703 51738 5209 5214 5290 5291 5293 5294 5310 5315 5320 5321 5322 5329 5330 5331 5337 5406 54187 54575 54576 54577 54578 54579 54600 5465 54657 54658 54659 55586 55600 5562 55624 5563 55902 55907 55959 5621 56261 56623 56624 56848 56963 56994 570 57103 57104 57124 572 5728 5730 5742 5743 57678 5950 5973 60481 6296 6307 6319 6342 6382 6383 6403 64132 6441 64419 64581 6476 64781 6480 648791 64900 6513 6514 6515 6517 6518 6523 653509 65985 6609 6646 6715 6783 7099 7108 7124 729238 7351 7412 762 7841 79071 79143 7941 79660 79661 79868 80142 80339 811 821 8277 83666 8455 84649 847 8473 84803 8526 8529 8560 8644 8658 8694 873 8803 8877 8879 8972 89858 912 9197 929 9334 9365 9370 9388 9394 9415 945 9469 9514 952 9536 9563 960 962 9663 9672 972 9926	Homo sapiens (human)
DOID:0080037	Worth syndrome Aliases: Worth's syndrome autosomal dominant endosteal hyperostosis autosomal dominant osteosclerosis benign form of Worth hyperostosis corticalis generalisata with torus platinus	LRP5	4041	Homo sapiens (human)
DOID:0110498	autosomal recessive nonsyndromic deafness 4 Aliases: DFNB4 autosomal recessive deafness 4 with enlarged vestibular aqueduct	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP RENBP SMUG1 TECTA	135228 146183 220074 22856 23583 25839 340990 410 50 51 5660 5973 7007	Homo sapiens (human)
DOID:0060233	cardiofaciocutaneous syndrome Aliases: CFC syndrome cardio-facial-cutaneous syndrome	BRAF CFC1	55997 673	Homo sapiens (human)
DOID:9741	biliary tract disease	CD14 CYP3A4 LYZ PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 VCAM1	10908 1576 4069 5290 5291 5293 5294 7412 929	Homo sapiens (human)
DOID:0110704	hypotrichosis 7 Aliases: Hypt7 Lah2 hypotrichosis, localized, autosomal recessive 2 total Mari type hypotrichosis,	GLB1 PTGS2	2720 5743	Homo sapiens (human)
DOID:7327	pseudosarcomatous fibromatosis Aliases: Fasciitis - nodular Pseudosarcomatous Fasciitis nodular fasciitis	ACADM ACADVL CPT2 CYP2C8 DCN DPAGT1 FKRP HADHA HADHB HSPG2 LDHA PFKM PGAM2 PGK1 PLA2G2A PLA2G6 PTGS2 PYGM SOAT1	1376 1558 1634 1798 3030 3032 3339 34 37 3939 5213 5224 5230 5320 5743 5837 6646 79147 8398	Homo sapiens (human)
DOID:12341	retroperitoneal sarcoma	ACSS2 PLA2G15 SMUG1	23583 23659 55902	Homo sapiens (human)
DOID:0110778	hereditary spastic paraplegia 27 Aliases: SPG27 autosomal recessive spastic paraplegia 27 autosomal recessive spastic paraplegia type 27	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:2568	cervicitis	LGALS3 MSLN	10232 3958	Homo sapiens (human)
DOID:3689	brachial plexus neuritis Aliases: Brachial neuritis Parsonage-Aldren-Turner syndrome	CYP2B6 SMUG1	1555 23583	Homo sapiens (human)
DOID:11049	meconium aspiration syndrome Aliases: Neonatal aspiration of meconium meconium aspiration	AMY1A AMY1B AMY1C CD14 PTGS1 PTGS2	276 277 278 5742 5743 929	Homo sapiens (human)
DOID:3320	Tay-Sachs disease Aliases: GM2 gangliosidosis, type 1 hexosaminidase A deficiency	ARSA GBA1 GM2A HEXA HEXB HEXD NEU3 OGA	10724 10825 2629 2760 284004 3073 3074 410	Homo sapiens (human)
DOID:3665	diffuse cutaneous mastocytosis	CD44 DHCR24 DLD ENOSF1 GPX1 ICAM1	1718 1738 2876 3383 55556 960	Homo sapiens (human)
DOID:3651	pyruvate carboxylase deficiency disease Aliases: deficiency of pyruvic carboxylase	ACE CHPT1 DHDDS DLAT DLD ECHS1 OGDH PC PCK1 PCK2 PDHA1 PDHA2 PDHB PDHX	1636 1737 1738 1892 4967 5091 5105 5106 5160 5161 5162 56994 79947 8050	Homo sapiens (human)
DOID:0111672	primary hyperoxaluria type 3 Aliases: HP3 PH III primary hyperoxaluria type III	HOGA1	112817	Homo sapiens (human)

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