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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 **5001 - 5025** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0110471	autosomal recessive nonsyndromic deafness 16 Aliases: DFNB16 autosomal recessive deafness 16	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:0110521	autosomal recessive nonsyndromic deafness 70 Aliases: DFNB70 autosomal recessive deafness 70	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:2691	myoma Aliases: benign neoplasm of the Muscle	CYP19A1 CYP2B6 HPSE	10855 1555 1588	Homo sapiens (human)
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	H12D21.10	179990	Caenorhabditis elegans
DOID:9931	Waterhouse-Friderichsen syndrome Aliases: Meningococcal hemorrhagic adrenalitis	ATP6AP2 CD44 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 CYP4F3 G6PD HSD11B2 HSD3B1 HSD3B2 LGALS3 OCRL PRSS8 SLC26A2 SLC33A1 SLC5A1	10159 1583 1584 1585 1586 1589 1836 2539 3283 3284 3291 3958 4051 4952 5652 6523 9197 9469 960	Homo sapiens (human)
DOID:11200	T cell deficiency Aliases: T cell immunodeficiency T lymphocyte deficiency T lymphocyte immunodeficiency	PNP SFTPA1	4860 653509	Homo sapiens (human)
DOID:0060875	isolated growth hormone deficiency type III Aliases: Fleisher syndrome IGHD III X-linked IGHD X-linked agammaglobulinemia and isolated growth hormone deficiency X-linked hypogammaglobulinemia and isolated growth hormone deficiency X-linked isolated growth hormone deficiency congenital IGHD type III congenital isolated GH deficiency type III congenital isolated growth hormone deficiency type III growth hormone deficiency with hypogammaglobulinemia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:5403	microcystic adenoma	ACACA ACE ACSL4 ADH1C AKR1B10 AKR1B1 ALDH2 ALOX12 ALOX5 AMACR APRT ARSA BAAT CALR CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHGA CHI3L1 CHPT1 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP2C9 CYP2E1 CYP3A5 DHCR24 DLD DPEP1 ENO2 ENPP7 FUT4 FUT8 G6PC1 GALNT12 GFRA2 GLUL GPC3 GPNMB GPX1 GPX2 GUSB HPGDS HPSE HSD11B1 HSD11B2 HSD17B1 HSD17B7 HSD3B1 HSPG2 IDH1 IGF2R KL LGALS1 LGALS3 LGALS4 LMAN1 LYZ MBD4 MGAT5 MGLL MPG MRC1 MTAP MUTYH NAGLU NAMPT NCAM1 NTHL1 OGG1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN PTGIS PTGS1 PTGS2 QPRT SDC2 SDHC SELL SHMT1 SLC26A2 SLC2A3 SLC33A1 SMUG1 SORD SPHK1 UGT1A1 UGT1A6 VCAN	1012 10135 10457 1048 10855 1087 1113 1116 11343 126 142 1462 1543 1544 1545 1559 1571 1577 1583 1584 1585 1586 1588 1589 1591 1636 1718 1738 1800 1836 2026 217 2182 231 23475 23583 23600 239 240 2526 2530 2538 2675 2719 27306 2752 2876 2877 2990 31 3283 3290 3291 3292 3339 339221 3417 3482 353 3956 3958 3960 3998 4069 410 4249 4350 4360 4507 4595 4669 4680 4684 4913 4968 51478 5290 5291 5293 5294 54578 54658 56994 570 57016 5716 57214 5728 5740 5742 5743 6383 6391 6402 6470 6515 6652 79695 811 8877 8930 9197 9365 9469 960 972	Homo sapiens (human)
DOID:13482	Proteus syndrome Aliases: Wiedemann's syndrome	akt1.S	399170	Xenopus laevis (African clawed frog)
DOID:2043	hepatitis B Aliases: chronic hepatitis B hepatitis B infection	ugt1a1 ugt1a6	100135191 100489505	Xenopus tropicalis (tropical clawed frog)
DOID:9352	type 2 diabetes mellitus Aliases: NIDDM insulin resistance non-insulin-dependent diabetes mellitus type 2 diabetes type II diabetes mellitus	Adipoq Akr1b1 Akt1 Akt2 Aldob Apod Bad Cd38 Chi3l1 Cpt1a Crtc2 Enpp1 Fuca1 G6pc1 G6pd2 G6pdx Gck Gpd2 Gsk3b Hk2 Igf2 Inppl1 Ins1 Ins2 Kcnj11 Kcnq1 Kl Lep Lepr Nampt Nr1d1 Oga Ogg1 Ogt Pck1 Pdx1 Pik3r1 Ppargc1a Ppp1ca Ppp1cc Ppp1r3a Ppp1r3c Prkaa1 Rbp4 Serpina12 Tcf7l2 Tlr4 Tnf Ucp2 Ugt1a1 Ugt1a6a Ugt1a6b Ugt1a7c Usf1	103988 105787 108155 11450 11651 11652 11677 11815 12015 12494 12654 12894 140491 14377 14380 14381 14571 15277 16002 16332 16333 16334 16514 16535 16591 16846 16847 18294 18534 18605 18609 18708 19017 19045 19047 19662 21416 217166 21898 21926 22228 22278 230163 394432 394435 394436 53412 56637 59027 68054 71665 74343 76055 94284	Mus musculus (house mouse)
DOID:0060074	ductal carcinoma in situ	Tp53 Tymp	24842 315219	Rattus norvegicus (Norway rat)
DOID:0080217	lysosomal acid lipase deficiency Aliases: LAL deficiency LAL-D	Lipa	16889	Mus musculus (house mouse)
DOID:403	mouth disease	PTGS2	5743	Homo sapiens (human)
DOID:0070259	congenital disorder of glycosylation type IIg Aliases: CDG IIg CDG2G CDGII/COG1 cerebrocostomandibular-like syndrome CDGIIg Carbohydrate deficient glycoprotein syndrome type IIg	COG1	9382	Homo sapiens (human)
DOID:2121	ectodermal dysplasia Aliases: Congenital ectodermal defect Congenital ectodermal dysplasia	CD38	952	Homo sapiens (human)
DOID:0060716	autosomal recessive congenital ichthyosis 7 Aliases: ARCI7	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)
DOID:83	cataract	Ogg1 Zw	31806 32974	Drosophila melanogaster (fruit fly)
DOID:0110352	retinitis pigmentosa 59 Aliases: RP59	DHDDS	79947	Homo sapiens (human)
DOID:14039	POEMS syndrome	CYP19A1 SDC1	1588 6382	Homo sapiens (human)
DOID:417	autoimmune disease Aliases: autoimmune hypersensitivity disease hypersensitivity reaction type II disease	Idh1 Siae	15926 22619	Mus musculus (house mouse)
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	EMI2 FBP26 GLK1 HXK1 HXK2	850317 850614 852128 852639 853286	Saccharomyces cerevisiae S288C
DOID:8577	ulcerative colitis Aliases: Left-sided ulcerative colitis	RHO1	856294	Saccharomyces cerevisiae S288C
DOID:5353	colonic disease Aliases: colon disorder	FUT2	2524	Homo sapiens (human)
DOID:0050836	focal dystonia	ALDH5A1 ARSG PLA2G6	22901 7915 8398	Homo sapiens (human)

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