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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **6901 - 6925** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0070519	early-onset vitamin B6-dependent epilepsy 4 Aliases: AASA dehydrogenase deficiency EPEO4 PDE-ALDH7A1 antiquitin deficiency	ALDH7A1	501	Homo sapiens (human)
DOID:0090065	familial cold autoinflammatory syndrome 4	HPSE PLCG2	10855 5336	Homo sapiens (human)
DOID:0111503	Li-Fraumeni syndrome 1 Aliases: LFS1	CD44 CYP19A1 DCN IDH1 PKM PTEN TP53	1588 1634 3417 5315 5728 7157 960	Homo sapiens (human)
DOID:0050561	Lennox-Gastaut syndrome Aliases: Lennox syndrome	ABAT CYP46A1 DGKD EXT1	10858 18 2131 8527	Homo sapiens (human)
DOID:0110456	dilated cardiomyopathy 1R Aliases: CMD1R	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:2615	papilloma Aliases: papillomatosis	ALDH3A2 AMACR ARSF B3GAT1 CALR CAT CEACAM5 DCN EBP GLB1 GOLPH3 ICAM1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G4A PTEN PTGES PTGS2 SDC1 SDHB SDHC SDHD ST8SIA4 STS TM7SF2 XYLT2	1048 10682 1634 224 23600 27087 2720 3383 412 416 5290 5291 5293 5294 5310 5321 5728 5743 6382 6390 6391 6392 64083 64132 7108 7903 811 847 9536	Homo sapiens (human)
DOID:5566	mature teratoma	ACAT1 ALPP DHCR24 FMOD FUT1 GFRA1 ME1 MRC1 PGM1 PSMD10 PTEN	1718 2331 250 2523 2674 38 4199 4360 5236 5716 5728	Homo sapiens (human)
DOID:2272	vulvovaginal candidiasis Aliases: Candidal cervix Candidal vulvovaginitis Candidiasis of vulva and vagina Monilial vulvovaginitis	AKR1A1 CLEC7A GLA GM2A MBL2 PSAP	10327 2717 2760 4153 5660 64581	Homo sapiens (human)
DOID:93	language disorder	ARSD DLD GPD2 PPP1R3A PRPS1 STS	1738 2820 412 414 5506 5631	Homo sapiens (human)
DOID:106	pleural tuberculosis Aliases: Pearly disease Tuberculosis of pleura Tuberculous pleurisy Tuberculous pleuritis tuberculous pleurisy in primary progressive tuberculosis	BST1 HSD11B1 TLR4 VTCN1	3290 683 7099 79679	Homo sapiens (human)
DOID:0060705	X-linked lymphoproliferative syndrome 1 Aliases: XLP1	CD1D FUT1 HPGDS HPRT1 PLCG1	2523 27306 3251 5335 912	Homo sapiens (human)
DOID:11506	suppurative otitis media Aliases: Otitis media with effusion - purulent Purulent otitis media	CAT TLR2 TLR4	7097 7099 847	Homo sapiens (human)
DOID:9201	lichen planus Aliases: Lichen, ruber planus lichen ruber planus	CAT CHI3L1 PTGS2 VCAM1	1116 5743 7412 847	Homo sapiens (human)
DOID:5884	benign intermediate mesothelioma Aliases: Well-differentiated Papillary tumor of Mesothelium	L1CAM	3897	Homo sapiens (human)
DOID:0050780	obsolete Opitz-GBBB syndrome	GPC3 HK2 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 SMUG1	23583 2719 3099 5290 5291 5293 5294 5563	Homo sapiens (human)
DOID:11830	myopia Aliases: near vision near-sightedness short-sightedness	ACOX1 ACSL4 AGK ALDH3A2 ATP6V0A2 B3GALNT2 B3GALT6 B3GLCT CHST14 COL9A2 DAG1 DCN ENPP1 FKRP FKTN FMOD GLUL GMPPB GNPTG GPAA1 GPD2 HADHA HAS2 HS6ST2 HSPG2 LARGE1 LPIN2 NTM NYX PCYT1A PIK3CA PIK3CG PLOD3 PMM2 POMGNT1 POMK POMT1 POMT2 PSMD10 PTEN PXYLP1 RPE SDHC SDHD SLC2A10 SMC3 TMTC3 VCAN XYLT1 XYLT2	10585 113189 126792 1298 145173 1462 148789 160418 1605 1634 2182 2218 224 2331 23545 2752 2820 29925 29954 3030 3037 3339 50863 51 5130 5167 5290 5294 5373 55624 55750 5716 5728 60506 6120 6391 6392 64131 64132 79147 81031 84197 84572 8733 8985 90161 9126 9215 92370 9663	Homo sapiens (human)
DOID:3951	acute myocarditis	LGALS3 LGALS9 PRKAA2 PTGS2 SMUG1 SULT1E1	23583 3958 3965 5563 5743 6783	Homo sapiens (human)
DOID:1171	hyperlipoproteinemia type V Aliases: Fredrickson type V lipaemia familial hyperlipoproteinemia type V familial type 5 hyperlipoproteinemia	AMT DGAT1 GPIHBP1 LCAT LPL PNPLA2	275 338328 3931 4023 57104 8694	Homo sapiens (human)
DOID:0110549	autosomal dominant nonsyndromic deafness 18 Aliases: DFNA18 autosomal dominant deafness 18	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:11262	ornithosis Aliases: psittacosis	IL18R1	8809	Homo sapiens (human)
DOID:4308	polyradiculoneuropathy	B3GAT1 MAG	27087 4099	Homo sapiens (human)
DOID:484	vascular hemostatic disease	ABO	28	Homo sapiens (human)
DOID:8549	chronic ulcer of skin Aliases: Callous ulcer Indolent ulcer	CLEC7A DCN GALNS GBE1 ICAM1 IDH1 IDH2 NCAM1 OCRL OGT PGM3 PIGL PIK3CA PIK3CB PIK3CD	1634 2588 2632 3383 3417 3418 4684 4952 5238 5290 5291 5293 64581 8473 9487	Homo sapiens (human)
DOID:0080205	CAKUT Aliases: Congenital anomalies of the kidney and urinary tract Renal or urinary tract malformation	ACE ATP6AP2 FREM1 PIK3CA PIK3CB PIK3CD PIK3CG	10159 158326 1636 5290 5291 5293 5294	Homo sapiens (human)
DOID:0110758	type 1 diabetes mellitus 21 Aliases: IDDM21 Insulin-Dependent Diabetes Mellitus 21	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)

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