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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 **1951 - 1975** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:5425	ovarian hyperstimulation syndrome Aliases: secondary Meig's syndrome	CD44 CHST3 CYP11A1 CYP19A1 LPL PTGS2	1583 1588 4023 5743 9469 960	Homo sapiens (human)	DisGeNET
DOID:3211	lysosomal storage disease Aliases: disorder of lysosomal enzyme inborn lysosomal enzyme disorder lysosomal storage metabolism disorder	AGA ARSA ARSB ARSG ARSI ARSK ASAH1 CD1D CHIT1 CTNS CTSA FIG4 FUCA1 FUT1 GAA GALC GALNS GBA1 GLA GLB1 GNPTAB GNPTG GNS GPNMB GUSB HEXA HEXB HSD17B1 HYAL1 IDS IDUA IGF2R LIPA MAN2B1 MANBA MGAM NAGLU NEU1 OGA PIP4K2A PPT1 PRKAA2 PSAP SGSH SI SLC17A5 SMPD1 SUMF1	10457 10724 1118 1497 153642 175 22901 2517 2523 2548 2581 2588 2629 26503 2717 2720 2799 285362 2990 3073 3074 3292 3373 340075 3423 3425 3482 3988 410 411 4125 4126 427 4669 4758 5305 5476 5538 5563 5660 6448 6476 6609 79158 84572 8972 912 9896	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080510	epidermolysis bullosa simplex localized type Aliases: epidermolysis bullosa simplex Weber-Cockayne type	GALK1	2584	Homo sapiens (human)	DisGeNET
DOID:0080016	spina bifida	ABO APEX1 ARSA CD38 CHKA COMT FOLR1 FOLR2 GPC5 HK1 ISYNA1 ITPK1 PCYT1A	1119 1312 2262 2348 2350 28 3098 328 3705 410 5130 51477 952	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080073	spina bifida occulta	B3GLCT COLEC10 COLEC11 LFNG MASP1	10584 145173 3955 5648 78989	Homo sapiens (human)	DisGeNET
DOID:3263	piebaldism Aliases: PIEBALD TRAIT Partial albinism	ABO CALR	28 811	Homo sapiens (human)	DisGeNET
DOID:12215	oligohydramnios Aliases: Oligohydramnios - delivered antepartum oligohydramnios delivered oligohydramnios	ACE ALG8 COG5 DHCR7 GCDH GMPPB PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY POMT1 TALDO1	10466 10585 1636 1717 2639 27315 284098 29925 55650 6888 79053 84720 84992 93210 9487	Homo sapiens (human)	DisGeNET
DOID:4376	milk allergy Aliases: milk allergic reaction	LALBA	3906	Homo sapiens (human)	DisGeNET
DOID:0050749	peripheral T-cell lymphoma	CD1D CD44 CLEC10A CYP3A4 IDH1 IDH2 LGALS1 MTAP NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PNP SMUG1 SOAT1 TM7SF2	10462 1576 23583 3417 3418 3956 4507 4684 4860 5290 5291 5293 5294 6646 7108 912 960	Homo sapiens (human)	DisGeNET
DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma Aliases: cutaneous T cell lymphoma cutaneous T-cell lymphoma	ANXA5 CD22 CD44 CHI3L1 CNTN2 LGALS1 LGALS9 MBL2 MTAP NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLCG1 PTEN PTGS2 SDC4 SELL SIRT2 SOAT1 TIGAR	1116 22933 308 3956 3965 4153 4507 4684 5290 5291 5293 5294 5315 5335 57103 5728 5743 6385 6402 6646 6900 933 960	Homo sapiens (human)	DisGeNET
DOID:0050745	diffuse large B-cell lymphoma Aliases: DLBCL	ABO ACSBG1 AMACR ANXA5 APRT CALR CAT CD109 CD22 CD38 CD44 CD74 CDH13 CDS1 CYP17A1 CYP1A1 CYP24A1 EFNA5 ENO2 FASN FBP1 FCGR3B GAPDH GBA1 GPI GPX1 HK2 HMMR HPGDS ICAM1 IDH1 IDH2 IL1RAPL1 INPP5D KDSR KL LGALS16 LGALS1 LGALS3 LPL LY6K LYPD5 MASP2 MCAT MTAP NCAM1 NT5E OGT PARP14 PARP1 PARP9 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 PRKAA2 PTEN PTGS2 SDC1 SELL SMUG1 SOAT1 SPHK1 STS TP53 UGCG UMOD VTCN1	1012 1040 10747 11141 135228 142 148003 1543 1586 1591 1946 2026 2194 2203 2215 23205 23583 23600 2531 2597 2629 27306 27349 28 2821 284348 2876 308 3099 3161 3383 3417 3418 353 3635 3956 3958 4023 412 4507 4684 4907 5130 5290 5291 5293 5294 5336 54625 54742 5563 5728 5743 6382 6402 6646 7157 7357 7369 79679 811 83666 847 8473 8877 933 9365 952 960 972	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:1700	X-linked ichthyosis Aliases: X-linked ichthyosis with steryl-sulphatase deficiency X-linked placental steryl-sulphatase deficiency X-linked recessive ichthyosis	ANXA5 ARSA CD44 CSPG4 DHCR7 FBP2 GLB1 HPGDS HPSE IDS LGALS1 MRC1 MTAP PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN RTN4R SMUG1 STS SUMF1	10855 142 1464 1717 23583 2720 27306 285362 308 3423 3956 410 412 4360 4507 5290 5291 5293 5294 5728 65078 8789 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:3753	Hermansky-Pudlak syndrome	CHI3L1 LGALS3 PI4K2A SFTPA1 SFTPC SLC35D3	1116 340146 3958 55361 6440 653509	Homo sapiens (human)	DisGeNET
DOID:0060736	epidermolysis bullosa simplex Ogna type Aliases: EBS-O EBS-Og EBSOG	PLOD3	8985	Homo sapiens (human)	DisGeNET
DOID:0090017	epidermolysis bullosa simplex with muscular dystrophy Aliases: epidermolysis bullosa simplex and limb-girdle muscular dystrophy limb-girdle muscular dystrophy with epidermolysis bullosa simplex	PLOD3	8985	Homo sapiens (human)	DisGeNET
DOID:0060735	epidermolysis bullosa simplex Dowling-Meara type Aliases: EBS-gen sev EBSDM epidermolysis bullosa herpetiformis Dowling-Meara type epidermolysis bullosa simplex, herpetiformis generalized severe epidermolysis bullosa simplex	PLOD3	8985	Homo sapiens (human)	DisGeNET
DOID:4644	epidermolysis bullosa simplex	GALK1 PLOD3	2584 8985	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060642	recessive dystrophic epidermolysis bullosa Aliases: RDEB, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type	CAT CD44 DCN PIK3CA PIK3CB PIK3CD PIK3CG STS	1634 412 5290 5291 5293 5294 847 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4959	epidermolysis bullosa dystrophica Aliases: Dystrophic epidermolysis bullosa	CAT CD44 DCN PIK3CA PIK3CB PIK3CD PIK3CG STS	1634 412 5290 5291 5293 5294 847 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4313	epidermolysis bullosa acquisita Aliases: acquired epidermolysis bullosa	PIK3CA PIK3CB PIK3CD PIK3CG SELL	5290 5291 5293 5294 6402	Homo sapiens (human)	DisGeNET
DOID:0060717	autosomal recessive congenital ichthyosis 8 Aliases: ARCI8 lamellar ichthyosis 4 late-onset lamellar ichthyosis	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)	DisGeNET
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)	DisGeNET
DOID:0060719	autosomal recessive congenital ichthyosis 10 Aliases: ARCI10	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)	DisGeNET
DOID:0060712	autosomal recessive congenital ichthyosis 4A Aliases: ARCI4A ICR2B ichthyosis congenita IIB lamellar ichthyosis 2	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)	DisGeNET
DOID:0060715	autosomal recessive congenital ichthyosis 6 Aliases: ARCI6	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)	DisGeNET

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