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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 **1626 - 1650** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:1415	gyrate atrophy Aliases: Gyrate atrophy of the choroid and/or retina Ornithinemia with gyrate atrophy gyrate atrophy of the retina	PRKAA2 ST8SIA4	5563 7903	Homo sapiens (human)
DOID:5444	spiradenoma Aliases: Eccrine spiradenoma Eccrine spiradenoma of skin benign eccrine spiradenoma	LYZ	4069	Homo sapiens (human)
DOID:0110190	Charcot-Marie-Tooth disease type 4B2 Aliases: CMT4B2 Charcot-Marie-Tooth neuropathy type 4B2 autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2	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:4534	Hallermann-Streiff syndrome Aliases: Francois dyscephalic syndrome Hallerman - Streiff syndrome Hallermann's syndrome	ICAM1	3383	Homo sapiens (human)
DOID:12259	hemophilia B Aliases: Congenital factor IX deficiency Congenital factor IX disorder deficiency, functional factor IX factor IX deficiency	AMT CD38 DCXR EBP G6PD GAD1 SACM1L SMUG1	10682 22908 23583 2539 2571 275 51181 952	Homo sapiens (human)
DOID:0110135	Bardet-Biedl syndrome 13 Aliases: BBS13	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:12399	pathological gambling Aliases: Compulsive gambling	CHPT1 COMT DHDDS HTR2A	1312 3356 56994 79947	Homo sapiens (human)
DOID:14415	Legg-Calve-Perthes disease Aliases: Calve - Perthes' disease Coxa plana Juvenile osteochond-hip/pelvis Juvenile osteochondrosis of hip and/or pelvis Perthe's disease Perthes disease juvenile osteochondrosis of hip and pelvis osteochondrosis of Legg-Calve-Perthes pseudocoxalgia	EXT1 GNPTAB INPP5K NAGLU SLC2A10	2131 4669 51763 79158 81031	Homo sapiens (human)
DOID:115	cardiac tamponade Aliases: Rose's tamponade pericardial tamponade	PCYT1A SMUG1 SOAT1	23583 5130 6646	Homo sapiens (human)
DOID:10327	anthracosis Aliases: Coal Miner's Pneumoconiosis Coal workers' lung Coal workers' pneumoconiosis Melanoedema black lung	CAT GGT1 IL18R1 MBL2 OGG1 PTGS2 SELE UGT8	2678 4153 4968 5743 6401 7368 847 8809	Homo sapiens (human)
DOID:0110555	autosomal dominant nonsyndromic deafness 25 Aliases: DFNA25 autosomal dominant deafness 25	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:117	heart cancer Aliases: Cardiac tumor Tumour of heart malignant Cardiac tumor malignant neoplasm of heart	ABO ACACA ACE ACO1 APRT CAT CHGA CNTN4 COMT CS CYP1A2 DGCR2 DHRS11 DLST FH G6PD GUSB HPSE HSD17B7 IDH1 IDH2 L1CAM LGALS3 MDH2 MRC1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PTEN PTGS2 SDHA SDHB SDHC SDHD SMPD1 SMUG1 SORD UGT1A1	10855 1113 1312 142 1431 152330 1544 1636 1743 2271 23583 2539 28 2990 31 3417 3418 353 3897 3958 4191 4360 48 51478 5290 5291 5293 5294 5311 54658 5728 5743 6389 6390 6391 6392 6609 6652 79154 847 9993	Homo sapiens (human)
DOID:3756	protein C deficiency	ABO ACE ALG6 ANXA5 CEACAM5 CEACAM7 CYP2C9 DLD DPM1 DPM2 GLA HPSE LCT MBL2 MGAT2 MPI NGLY1 PC PIGA PMM2 PPP1R3B PPP1R3C PTEN SCD SDC1 SELP SMPD1 SRD5A3 STS	1048 10855 1087 1559 1636 1738 2717 28 29929 308 3938 412 4153 4247 4351 5091 5277 5373 5507 55768 5728 6319 6382 6403 6609 79644 79660 8813 8818	Homo sapiens (human)
DOID:0110169	Charcot-Marie-Tooth disease axonal type 2P Aliases: CMT2P Charcot-Marie-Tooth disease type 2P Charcot-Marie-Tooth neuropathy type 2P	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:10113	trypanosomiasis	ABO ACAT1 ACE ACHE ALOX5 ALPI ALPP APRT CALR COLEC11 CS CYP21A2 CYP2B6 CYP51A1 DDOST DHCR24 FCN2 FDPS G6PD GAD1 GAPDH GCK GLUL LGALS3 LGALS9 LSS MASP2 MBL2 MICA MTAP NT5E PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLCB1 PLCB4 PNP PTGS2 RPIA SDC4 SIRT2 SMPD1 SMUG1 SOAT1 STS STT3A STT3B TPI1	100507436 10747 142 1431 1555 1589 1595 1636 1650 1718 201595 2220 2224 22933 22934 23236 23583 240 248 250 2539 2571 2597 2645 2752 28 353 3703 38 3958 3965 4047 412 4153 43 4507 4860 4907 5290 5291 5293 5294 5332 5743 6385 6609 6646 7167 78989 811	Homo sapiens (human)
DOID:0090050	dystonia 27	ALDH5A1	7915	Homo sapiens (human)
DOID:12559	idiopathic juvenile osteoporosis Aliases: Idiopathic osteoporosis juvenile osteoporosis	CYP19A1 LRP5	1588 4041	Homo sapiens (human)
DOID:13121	deficiency anemia Aliases: deficiency anemias	ACO1 CACNA2D3 CAT CD55 IDUA LALBA PLA2G4A PLA2G6	1604 3425 3906 48 5321 55799 8398 847	Homo sapiens (human)
DOID:0111368	cholesterol-ester transfer protein deficiency Aliases: CEPT deficiency familial hyperalphalipoproteinemia	GALNT2 LCAT LIPC LIPG LPL	2590 3931 3990 4023 9388	Homo sapiens (human)
DOID:9080	macroglobulinemia Aliases: primary macroglobulinemia	ACADVL ACSBG1 ANXA5 CD22 CD38 CD55 CLEC12A COLEC10 FCER2 HAS1 HAS2 HMMR LIPC LPL NAMPT NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 SLC35B2 SMUG1 SOAT1	10135 10584 160364 1604 2208 23205 23583 3036 3037 308 3161 347734 37 3990 4023 4684 5290 5291 5293 5294 5336 6646 933 952	Homo sapiens (human)
DOID:1577	limited scleroderma Aliases: Limited cutaneous systemic sclerosis systemic sclerosis, limited	CD22	933	Homo sapiens (human)
DOID:4404	occupational dermatitis Aliases: Occupational allergic contact dermatitis Occupational eczema	AKR1B10 AKR1C2 CD44 CYP1A1 CYP1B1 G6PD GLB1 UGT1A1 UGT1A6	1543 1545 1646 2539 2720 54578 54658 57016 960	Homo sapiens (human)
DOID:4562	subacute bacterial endocarditis Aliases: Endocarditis lenta SBE - Subacute bacterial endocarditis Subacute endocarditis, lenta	ACE AGXT ARSD CAT CHPT1 CLEC16A DHDDS ENO1 GPI GPX1 ICAM1 MANEA MTM1 PCYT1A PTGS2 SIGLEC6 SMUG1	1636 189 2023 23274 23583 2821 2876 3383 414 4534 5130 56994 5743 79694 79947 847 946	Homo sapiens (human)
DOID:14183	alcoholic neuropathy Aliases: Alcohol-related polyneuropathy Alcoholic polyneuropathy	ADH1B ALDH2 IGF2	125 217 3481	Homo sapiens (human)
DOID:2231	factor XII deficiency Aliases: Factor XII deficiency disease Hageman Factor deficiency deficiency, Hageman	MGAT2 PGAP1	4247 80055	Homo sapiens (human)

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