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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 **6701 - 6725** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:363	uterine cancer Aliases: CA - cancer of uterus Tumour of uterus malignant neoplasm of uterus malignant uterine tumor neoplasm of uterus uterine tumor uterus neoplasm	ACAT1 FOLR1 L1CAM MBL2 MDH2 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	2348 38 3897 4153 4191 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:3772	intraventricular meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)
DOID:1924	hypogonadism	ACAN ADH5 ALG1 ALPP AMACR ATRNL1 B4GALNT1 CA4 CD38 CTNS CYP11A1 CYP17A1 CYP19A1 CYP2R1 DDOST DHDDS EXT1 G6PC3 GALT GK HGSNAT HJV HS6ST1 HSD17B3 HSD3B1 IDH3A IDH3B INPP5K LEP PMM2 PNPLA6 POMGNT1 PTDSS1 SCP2 SGPL1 SLC3A1 STS TYMP	10908 120227 128 138050 148738 1497 1583 1586 1588 1650 176 1890 2131 23600 250 2583 2592 26033 2710 3283 3293 3419 3420 3952 412 51763 5373 55624 56052 6342 6519 762 79947 8879 92579 9394 952 9791	Homo sapiens (human)
DOID:9277	primary cerebellar degeneration	CEACAM5 FASN GAD1 HSD17B4 IDH2 INPP5K MBD4 MRC1 PARP1 PIK3CA PRNP PTEN PTGES PTGS2 SULF1 VCAM1	1048 142 2194 23213 2571 3295 3418 4360 51763 5290 5621 5728 5743 7412 8930 9536	Homo sapiens (human)
DOID:4752	multiple system atrophy Aliases: Shy-Drager syndrome	ACE COQ2 CYP11B2 ELOVL7 HEXB ICAM1 IGF2 OLR1 PAFAH1B1 PRNP	1585 1636 27235 3074 3383 3481 4973 5048 5621 79993	Homo sapiens (human)
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	SPATA20	64847	Homo sapiens (human)
DOID:0110233	cataract 27 Aliases: CTRCT27 cataract 27 nuclear progressive	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:0110743	type 1 diabetes mellitus 4 Aliases: IDDM4 Insulin-Dependent Diabetes Mellitus 4	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:2048	autoimmune hepatitis Aliases: Autoimmune chronic active hepatitis autoimmune hepatitis with centrilobular necrosis	ACACA ACE ADIPOQ ALDOB ARSA CAT CD1D CD74 CFC1 CHST3 CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP1A2 CYP21A2 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 DBT DLAT FH GPI GPX1 HK1 HPGDS HSD11B2 HSD17B3 HSD17B6 HSD3B2 INPP5D KLRC1 KLRK1 LGALS9 OGT PDIA3 SLC17A5 SLC2A3 SMUG1 TNF UMOD	1544 1555 1557 1559 1571 1576 1583 1584 1586 1588 1589 1629 1636 1737 2271 229 22914 23583 26503 27306 2821 2876 2923 3098 31 3284 3291 3293 3635 3821 3965 410 55997 6515 7124 7369 847 8473 8630 912 9370 9469 972	Homo sapiens (human)
DOID:119	vaginal cancer Aliases: malignant neoplasm of vagina malignant tumor of vagina malignant vaginal tumor neoplasm of vagina vagina neoplasm vaginal tumor	FH SMUG1	2271 23583	Homo sapiens (human)
DOID:13664	post-vaccinal encephalitis Aliases: Encephalitis following immunization procedures Postvaccinal encephalomyelitis	CHI3L1	1116	Homo sapiens (human)
DOID:0060336	3-methylglutaconic aciduria	ACADSB AGK DHCR7 ECHS1	1717 1892 36 55750	Homo sapiens (human)
DOID:0111691	familial adult myoclonic epilepsy 5 Aliases: FAME5 FCMTE5 familial cortical myoclonic tremor and epilepsy 5	CNTN2	6900	Homo sapiens (human)
DOID:4085	trophoblastic neoplasm Aliases: Trophoblastic tumor	HSD3B1 LGALS1	3283 3956	Homo sapiens (human)
DOID:0110475	autosomal recessive nonsyndromic deafness 1A Aliases: DFNB1A autosomal recessive deafness 1A	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:7378	pituitary hypoplasia	SRD5A3	79644	Homo sapiens (human)
DOID:0080505	Cornelia de Lange syndrome 1	ARSD GALNT14 SMC3 TNKS	414 79623 8658 9126	Homo sapiens (human)
DOID:0080534	myxofibrosarcoma Aliases: fibromyxoid sarcoma	CD44 CHSY1 DCN	1634 22856 960	Homo sapiens (human)
DOID:10974	oophoritis	ABO CHI3L1 CTSA FCGR3B MAN1B1 PIK3CD	1116 11253 2215 28 5293 5476	Homo sapiens (human)
DOID:3840	craniopharyngioma Aliases: neoplasm of Rathke's Pouch	ATP6AP2 CD44 CEL CYP2E1 GAD1 GPX1 HSD11B1 IDH1 LGALS1 NDUFAB1	10159 1056 1571 2571 2876 3290 3417 3956 4706 960	Homo sapiens (human)
DOID:13580	cholestasis Aliases: Obstruction of bile duct bile occlusion	ACE ADH1A ADH5 AKR1D1 ALDH1B1 ALG8 ALPP AMACR ATRNL1 BAAT CAT CD14 CD44 CHIT1 COG6 CYP17A1 CYP1A2 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP3A4 CYP3A5 CYP7A1 CYP7B1 CYP8B1 DCN DGAT2 DLAT ERLEC1 FH G6PD GGT1 HADHA HADHB HAO2 HJV HOGA1 HSD17B4 HSD3B7 ICAM1 LIPA LYZ MBOAT1 NPL PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PRKAA1 PRKAA2 PTGDS PYGM SLC17A5 SULT1E1 SULT2B1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT2B4 VCAM1	1118 112817 124 128 148738 154141 1544 1555 1557 1559 1576 1577 1581 1582 1586 1593 1634 1636 1737 219 2271 23600 250 2539 26033 26503 2678 27248 3030 3032 3295 3383 3988 4069 51179 5290 5291 5293 5294 5319 5320 54575 54576 54577 54578 54657 54658 54659 5562 5563 570 5730 57511 5837 6718 6783 6820 7363 7412 79053 80270 80896 8398 84649 847 929 9420 960	Homo sapiens (human)
DOID:0090046	dystonia 21	ALDH5A1	7915	Homo sapiens (human)
DOID:0070460	hereditary spastic paraplegia 90B Aliases: SPG90B autosomal recessive spastic paraplegia 90B	SPTSSA	171546	Homo sapiens (human)
DOID:11701	selective IgA deficiency disease Aliases: Immunoglobulin A deficiency Selective immunoglobulin A deficiency selective IgA immunodeficiency	AGA CLEC16A CYP21A2 FUT2 FUT3 MBL2 PTEN SDC1	1589 175 23274 2524 2525 4153 5728 6382	Homo sapiens (human)
DOID:0060193	amyotrophic lateral sclerosis type 1 Aliases: ALS1 amyotrophic lateral sclerosis 1	ACACA ACHE ALG1 ALPI ALPP APRT ASAH1 CAT CHI3L1 CLEC10A CNTN4 CYP27A1 FCN2 FIG4 GFRA1 GPX1 HEXB HK2 INPP4B MASP1 NT5E OGA OPCML OTOG PNPLA6 RTN4R SARM1 SLC17A5 SLC33A1 TIGAR TMED9	10462 10724 10908 1116 152330 1593 2220 23098 248 250 26503 2674 2876 3074 3099 31 340990 353 427 43 4907 4978 54732 56052 5648 57103 65078 847 8821 9197 9896	Homo sapiens (human)

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