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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 **6351 - 6375** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:2346	monoclonal paraproteinemia Aliases: Monoclonal paraproteinaemia	CD38 HAS1 MAG NCAM1 PRSS21 SDC1	10942 3036 4099 4684 6382 952	Homo sapiens (human)
DOID:12800	mucopolysaccharidosis VI Aliases: MPS VI - Maroteaux-Lamy syndrome Maroteaux - Lamy syndrome Maroteaux-Lamy syndrome arylsulfatase B deficiency deficiency of N-acetylgalactosamine-4-sulfatase	ACAN AGA APRT ARSA ARSB ARSG ARSH CANX CAT CD1D CD38 CTSA DPEP1 EXTL2 EXTL3 FUCA1 FUT1 GALNS GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT HYAL1 HYAL2 IDS IDUA L1CAM MAN2B1 NAGLU NEU1 NT5E OGA SGSH SLC26A2 SLC35G1 SPAM1 SUMF1 TNF	10020 10724 138050 159371 175 176 1800 1836 2135 2137 22901 2517 2523 2588 2720 2799 285362 2990 3373 3423 3425 347527 353 3897 410 411 4125 4669 4758 4907 5476 6448 6677 7124 79158 821 84572 847 8692 912 952	Homo sapiens (human)
DOID:0110777	hereditary spastic paraplegia 26 Aliases: GM2 synthase deficiency SPG26 autosomal recessive spastic paraplegia 26 autosomal recessive spastic paraplegia type 26	b4galnt1a b4galnt1b	558684 793635	Danio rerio (zebrafish)
DOID:438	autoimmune disease of the nervous system	ALDOC ANXA5	230 308	Homo sapiens (human)
DOID:9153	variola minor Aliases: Alastrim cottonpox milkpox whitepox	ABO CYB5R3 FCN2 IL18R1	1727 2220 28 8809	Homo sapiens (human)
DOID:4839	sebaceous adenocarcinoma Aliases: Sebaceous carcinoma adenocarcinoma of the Sebaceous gland	CD44 MUTYH PIK3CA PTEN	4595 5290 5728 960	Homo sapiens (human)
DOID:0060668	anencephaly	ABO B4GAT1 COMT EFNA5	11041 1312 1946 28	Homo sapiens (human)
DOID:635	acquired immunodeficiency syndrome Aliases: AIDS acquired Immune deficiency	ABO ACE ACOT8 ACSS2 ARSH B3GAT1 BST2 CACNA2D4 CD14 CD209 CD38 CDH13 CHI3L1 CLEC10A CLEC18B CLEC9A CNTN6 COLEC11 COMT CTSA CYP1A1 CYP21A2 CYP27B1 CYP2B6 CYP3A4 CYP4F3 CYP7B1 DEGS2 DGKI EFNA5 ENO1 FADS2 FCER2 FCGR3B FCN2 FREM1 FUCA1 FUT1 FUT2 G6PD GAD1 GALT GLB1 GLUL GPAT3 GPI GPX1 GPX3 HADHA HEXA HEXB HPGDS ICAM1 ICAM2 IDH1 IGF2 IGF2R KLRB1 KLRC1 KLRD1 LGALS1 LGALS9 LIPA LSS LTA4H LYZ MACROD2 MAN1A1 MBL2 MICA MLYCD MRC1 NEIL1 NTM OGG1 PARP1 PIK3C2A PIK3CA PLA2G15 PLA2G7 PLAUR PLCD3 PNPLA3 PRKAA2 PRNP PRSS21 PSAP PTEN PTGS1 PTGS2 RENBP SCD5 SDC1 SELE SELL SELP SFTPD SLC35F4 SMUG1 SOAT1 STS TMED1 TNF UGT1A1 UNG VCAM1	10005 100507436 1012 10462 10942 11018 1116 113026 123099 1312 140733 142 1543 1555 1576 158326 1589 1594 1636 1946 2023 2208 2215 2220 23417 23583 23659 2517 2523 2524 2539 2571 2592 27087 2720 27255 27306 2752 28 2821 283420 2876 2878 3030 3073 3074 30835 3383 3384 3417 341880 347527 3481 3482 3820 3821 3824 3956 3965 3988 4047 4048 4051 4069 412 4121 4153 4360 4968 497190 50863 5286 5290 5329 54658 5476 5563 55902 5621 5660 5728 5742 5743 5973 6382 6401 6402 6403 6441 6646 684 7124 7374 7412 78989 7941 79661 79966 80339 84803 9162 929 93589 9415 9420 952	Homo sapiens (human)
DOID:0111077	pyruvate kinase deficiency of red cells Aliases: PK deficiency hemolytic anemia due to red cell pyruvate kinase deficiency pyruvate kinase deficiency of erythrocyte	G6PD HK1 PKLR	2539 3098 5313	Homo sapiens (human)
DOID:0090016	chromosome 5q deletion syndrome Aliases: 5q- syndrome, refractory macrocytic anemia due to 5q deletion myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	ANXA5 CD14 CD74 HMMR	308 3161 929 972	Homo sapiens (human)
DOID:0080570	congenital disorder of glycosylation It Aliases: congenital disorder of glycosylation 1t	PGM1 PGM2	853732 855131	Saccharomyces cerevisiae S288C
DOID:9252	amino acid metabolic disorder Aliases: inborn errors of amino acid metabolism	ALDH6A1 GCSH GLUL HMGCL PCCA PCCB	2653 2752 3155 4329 5095 5096	Homo sapiens (human)
DOID:3450	cutaneous Paget's disease Aliases: Paget's disease of skin cutaneous Paget disease extramammary Paget's disease	Pik3ca	18706	Mus musculus (house mouse)
DOID:9296	cleft lip Aliases: Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip	B3GLCT COLEC10 COLEC11 FKRP FKTN GAD1 GPC3 LARGE1 MASP1 MTMR3 NSDHL POMT1 POMT2 SDC2 TGDS TNKS2 TNKS	10584 10585 145173 2218 23483 2571 2719 29954 50814 5648 6383 78989 79147 80351 8658 8897 9215	Homo sapiens (human)
DOID:1260	parametritis Aliases: pelvic cellulitis	ABO CHI3L1 CTSA FCGR3B MAN1B1 PIK3CD	1116 11253 2215 28 5293 5476	Homo sapiens (human)
DOID:5511	dysgerminoma of ovary Aliases: Ovarian Dysgerminoma	ACE PTEN	1636 5728	Homo sapiens (human)
DOID:7148	rheumatoid arthritis Aliases: Arthritis or polyarthritis, rheumatic atrophic Arthritis	ABO ACACA ACAN ACE ACOT7 ACSBG1 ADIPOQ ADRB3 AGPAT1 AKR1D1 ALDH1A3 ALOX12 ALOX5 ALPP AMACR ANXA4 ANXA5 APRT ASAH1 ATRNL1 B3GAT1 B3GNT9 B4GALT1 B4GALT7 CALR CAT CD109 CD14 CD1D CD209 CD22 CD248 CD38 CD44 CD48 CD55 CD74 CEMIP CHAT CHI3L1 CHID1 CHST3 CLEC10A CLEC12A CLEC16A CLEC1B CLEC4E CLEC6A CLEC7A CNTFR CNTN2 COG2 COG6 COL9A2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP21A2 CYP2B6 CYP2C19 CYP2E1 CYP2R1 CYP3A4 CYP3A5 CYP7B1 DGKQ DHCR7 DPEP1 EBP ENGASE ENO1 ENPP1 ENPP2 EXT1 FADS1 FADS2 FBXO2 FCER2 FCGR3B FCN1 FCN2 FOLR2 FUT4 GALNT18 GCK GDPD5 GFRA1 GLB1 GNS GPC1 GPC5 GPI GPLD1 GPX1 GUSB GYS1 HAGH HAS1 HAS3 HEXA HEXB HK1 HK2 HMMR HPGDS HPRT1 HPSE HSD11B1 HSD11B2 HSD17B6 HSD17B8 HTD2 HYAL2 ICAM1 IGF2 IL18R1 IL18RAP IL1R1 IL1RAP IL1RAPL1 IL6ST INPP5D ISYNA1 KAT2B KL KLRB1 KLRC1 KLRD1 KLRK1 LCAT LGALS1 LGALS2 LGALS3 LGALS8 LGALS9 LPIN2 LY6G6D LYZ MASP1 MASP2 MBD4 MBL2 MDGA2 MGAT5 MICA MMP17 MMP25 MPG MRC1 MTMR3 MUTYH NAMPT NCAM1 NDST1 NEU1 NT5E OGG1 OLR1 OS9 PARP1 PARP2 PARP9 PCYT1A PDIA3 PFKFB3 PGK1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G7 PLAUR PLB1 PLCG2 PLD1 PLD3 PLD4 PNPLA2 PTEN PTGES PTGS1 PTGS2 RECK RGMB SACM1L SCD5 SCD SDC1 SDC2 SDC3 SDC4 SELE SELL SELP SEMA7A SFTPA2 SFTPD SIGLEC1 SIGLEC7 SIGLEC9 SIRT6 SLC17A5 SLC2A3 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 ST6GAL1 ST6GALNAC5 STS TM7SF2 TNF TPI1 TREH TYMP UGCG UGT1A10 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UNG VCAM1 VTCN1	10038 100507436 10135 10462 10554 10682 10747 10855 10956 109703458 1103 11141 1116 11181 11285 11332 120227 122618 1271 1298 135228 142 151056 1543 1544 155 1555 1557 1571 1576 1577 1586 1588 1589 160364 1604 1609 161357 1636 1717 176 1800 1890 2023 2131 220 2208 2215 2219 2220 2262 22796 22908 22914 23205 23274 2350 23583 23600 23646 239 240 250 2526 26033 26232 26253 2645 26503 2674 2683 27036 27087 27180 2720 27306 2799 28 2817 2821 2822 285704 2876 2923 2990 2997 3029 3036 3038 307 3073 3074 308 30835 3098 3099 31 3161 3251 3290 3291 3340 3383 3481 353 3554 3556 3572 3635 374378 3820 3821 3824 3931 3956 3957 3958 3964 3965 3992 4069 412 4153 4249 427 4326 4350 4360 4595 4684 4758 4907 4968 4973 51266 5130 51477 51548 5167 5168 5209 5230 5236 5290 5291 5293 5294 5310 5319 5320 5321 5329 5336 5337 54575 54576 54577 54578 54657 5648 56848 57104 57124 57214 5728 5742 5743 57511 58530 6319 6382 6383 6385 6401 6402 6403 64386 6441 64581 64772 6480 6515 66005 6609 6614 6646 6718 6900 7108 7124 7167 729238 7357 7374 7412 7923 7941 79679 79966 811 81544 81849 83666 8399 8434 847 84752 8482 8630 8692 8807 8809 8850 8877 8897 8930 912 929 933 9365 9370 93978 9415 9420 9469 952 9536 960 962 9663 9672 972	Homo sapiens (human)
DOID:0080571	congenital disorder of glycosylation Iu Aliases: congenital disorder of glycosylation 1u	Dpm2	8674033	Drosophila melanogaster (fruit fly)
DOID:12930	dilated cardiomyopathy Aliases: primary dilated cardiomyopathy	Adrb1 Cs Fkrp Lepr Ppargc1a Rbp4 Tnf Tp53	170587 24536 24835 24842 24925 25703 308390 83516	Rattus norvegicus (Norway rat)
DOID:0110006	3-methylglutaconic aciduria type 4 Aliases: 3-methylglutaconic aciduria type IV MGA type IV MGA4 MGCA4	SUCLA2	8803	Homo sapiens (human)
DOID:1679	cystitis	Tl	43222	Drosophila melanogaster (fruit fly)
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	Igf2	24483	Rattus norvegicus (Norway rat)
DOID:1307	dementia	Adipoq	11450	Mus musculus (house mouse)
DOID:11555	Fuchs' endothelial dystrophy Aliases: FCED Fuchs' corneal dystrophy Fuchs' endothelial corneal dystrophy	NEIL1 PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294 79661	Homo sapiens (human)
DOID:2870	endometrial adenocarcinoma Aliases: adenocarcinoma of endometrium adenocarcinoma of the Endometrium adenocarcinoma of uterus endometrial adenoacanthoma endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma with squamous differentiation endometrioid adenoma or carcinoma endometrioid adenomas and carcinomas endometrioid carcinoma of Endometrium	Axn	43565	Drosophila melanogaster (fruit fly)

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