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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 **501 - 525** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:1085	Edwards syndrome Aliases: Complete trisomy 18 syndrome E3 Trisomy trisomy 18	CD38 FUT1	2523 952	Homo sapiens (human)
DOID:4928	intrahepatic cholangiocarcinoma Aliases: Intrahepatic bile duct carcinoma peripheral Cholangiocarcinoma	Idh2	361596	Rattus norvegicus (Norway rat)
DOID:0110202	Charcot-Marie-Tooth disease dominant intermediate A Aliases: CMTDIA Charcot-Marie-Tooth neuropathy dominant intermediate A DI-CMTA autosomal dominant intermediate Charcot-Marie-Tooth disease type A	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:11832	visual epilepsy Aliases: epilepsy, visual	Eno L2HGDH	33351 35156	Drosophila melanogaster (fruit fly)
DOID:0060767	autosomal dominant Robinow syndrome 3 Aliases: DRS3	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:2600	laryngeal carcinoma Aliases: cancer of larynx carcinoma of larynx	ACACA ACAN ACE ACSS2 ADH1B ADH1C ADH5 ADH7 AKR1A1 ALDH2 ALG1 ANXA5 CAT CD14 CD44 CMAS CYP1A1 CYP1B1 CYP2B6 CYP2C19 CYP2E1 DCN FUT4 GAPDH GPX1 HADH HK2 HPGDS HYAL1 INPP4B INPPL1 LGALS1 MTAP NTHL1 OGG1 OGT PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PTEN PTGS2 SIGLEC7 SLC2A3 SMUG1 SULT1E1 UGT1A1 UGT1A7 VCAN VTCN1	10327 125 126 128 131 1462 1543 1545 1555 1557 1571 1634 1636 176 217 23583 23659 2526 2597 27036 27306 2876 2923 3033 308 3099 31 3373 3636 3956 4507 4913 4968 5290 5291 5293 5294 54577 54658 55902 55907 56052 5728 5743 6515 6783 79679 847 8473 8821 929 960	Homo sapiens (human)
DOID:13378	Kawasaki disease Aliases: Kawasaki's disease MLNS acute febrile MCLS acute febrile mucocutaneous lymph node syndrome mucocutaneous lymph node syndrome	Tl	43222	Drosophila melanogaster (fruit fly)
DOID:0050734	congenital intrinsic factor deficiency Aliases: hereditary intrinsic factor deficiency	CLEC7A CYP2C19	1557 64581	Homo sapiens (human)
DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria Aliases: bilateral temporooccipital polymicrogyria	FIG4	855392	Saccharomyces cerevisiae S288C
DOID:9074	systemic lupus erythematosus Aliases: Lupus Erythematosus, systemic SLE - Lupus Erythematosus, systemic disseminated lupus erythematosus	Man2a1 Pgf Tnf	24835 25478 94203	Rattus norvegicus (Norway rat)
DOID:10864	partial third-nerve palsy Aliases: Partial third nerve palsy Third nerve palsy with pupil sparing Third or oculomotor nerve palsy, partial	ACSM3	6296	Homo sapiens (human)
DOID:3660	wheat allergy Aliases: allergy to wheat wheat allergic reaction	ENPP3 HACD1	5169 9200	Homo sapiens (human)
DOID:0060050	autoimmune disease of blood	XB5871033 c1galt1	100487794 100496837	Xenopus tropicalis (tropical clawed frog)
DOID:12387	nephrogenic diabetes insipidus	ATP6AP2 CANX G6PD L1CAM PRKAA2 PTGS2	10159 2539 3897 5563 5743 821	Homo sapiens (human)
DOID:0110124	Bardet-Biedl syndrome 2 Aliases: BBS2	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:14793	hypohidrotic ectodermal dysplasia	ACACA CD38 DHCR7 G6PD GOLPH3 LYZ PGK1 PTGS2 SLC17A5	1717 2539 26503 31 4069 5230 5743 64083 952	Homo sapiens (human)
DOID:0080302	mixed sleep apnea Aliases: complex sleep apnea	ACE CYP1A2 CYP2J2 ENOSF1 GNE GNPTAB IDS LGALS3 NANS PTEN PTGS2	10020 1544 1573 1636 3423 3958 54187 55556 5728 5743 79158	Homo sapiens (human)
DOID:0112233	lissencephaly 8 Aliases: LIS8	tmtc3.L	108711051	Xenopus laevis (African clawed frog)
DOID:0090045	childhood onset GLUT1 deficiency syndrome 2	ECHS1 SLC2A1	1892 6513	Homo sapiens (human)
DOID:3525	middle cerebral artery infarction	gapdh has2 parp1	260350 317743 560788	Danio rerio (zebrafish)
DOID:10534	stomach cancer Aliases: gastric cancer gastric neoplasm	GCY1 IDP2 IDP3 YBR053C YPR1	850871 851974 852342 854287 855723	Saccharomyces cerevisiae S288C
DOID:535	sleep disorder Aliases: Non-organic sleep disorder	ins	30262	Danio rerio (zebrafish)
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	F52B11.2	178364	Caenorhabditis elegans
DOID:1380	endometrial cancer Aliases: endometrial Ca endometrial neoplasm malignant endometrial neoplasm malignant neoplasm of endometrium neoplasm of endometrium primary malignant neoplasm of endometrium tumor of Endometrium	Akt2 Bad Chi3l1 Comt Errfi1 Pik3r1 Tp53 Tymp Ugt1a1	24267 24842 24861 25233 25513 313729 315219 64639 89824	Rattus norvegicus (Norway rat)
DOID:0070253	congenital disorder of glycosylation type IIa Aliases: Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth	Mgat2	217664	Mus musculus (house mouse)

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