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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 **2126 - 2150** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:1352	paranasal sinus disease Aliases: disorder of nasal sinus	ACHE	43	Homo sapiens (human)
DOID:1574	alcohol use disorder Aliases: Ethanol abuse alcohol abuse	ABAT ABO ACADS ACE ACSS2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH6 ADH7 AKR1A1 AKR1C3 AKR1C4 AKT1 AKT2 ALDH1B1 ALDH2 ALDH3B2 ANGPTL3 ANXA4 APRT ARSA ATP1A2 CAT CD14 CDH13 CNTN4 CNTN6 COMT CYP19A1 CYP2B6 CYP2E1 CYP3A4 CYP3A5 CYP4F3 ECHS1 FADS1 FADS2 FOLR1 GAD1 GAD2 GAPDH GGT1 GLUL GM2A GSTO1 GSTO2 GUSB HPGDS HSD11B2 HSPG2 HTR2A IGF2 IL18R1 IL1R1 IMPA1 KL LYZ MGLL NCAM1 NCAN NPL PARP9 PC PIK3CA PIK3CB PIK3CD PIK3CG PLCD3 PNPLA3 PPAT PPP1R3B PPP1R3C PRSS21 SHMT1 SHMT2 SLC17A5 SLC39A8 SMPD1 SRD5A1 SRD5A2 ST6GAL1 ST8SIA4 TIPARP TKT TMEM260 UMOD	1012 10327 10942 1109 113026 11343 119391 124 125 126 127 128 130 131 1312 1463 152330 1555 1571 1576 1577 1588 1636 18 1892 207 208 217 219 222 2348 2571 2572 2597 25976 26503 2678 27255 27306 27329 2752 2760 28 2990 307 3291 3339 3356 3481 35 353 3554 3612 3992 4051 4069 410 4684 477 5091 5290 5291 5293 5294 5471 54916 5507 55902 64116 6470 6472 6480 6609 6715 6716 7086 7369 7903 79660 80339 80896 83666 847 8644 8809 929 9365 9415 9446	Homo sapiens (human)
DOID:13809	familial combined hyperlipidemia Aliases: familial multiple lipoprotein-type hyperlipidemia hyperbetalipoproteinemia with prebetalipoproteinemia mixed hyperlipidaemia type IIb hyperlipoproteinemia	ACE ALPL CHIT1 CYP7A1 LCAT LIPC LPL LYPLA2 PNPLA2 SCD SELP SIGLEC7	1118 11313 1581 1636 249 27036 3931 3990 4023 57104 6319 6403	Homo sapiens (human)
DOID:0110644	long QT syndrome 1 Aliases: LQT1 ventricular fibrillation with prolonged QT interval	KCNQ1 SCD	3784 6319	Homo sapiens (human)
DOID:0050883	infantile cerebellar-retinal degeneration	ACO2	50	Homo sapiens (human)
DOID:0110570	autosomal dominant nonsyndromic deafness 47 Aliases: DFNA47 autosomal dominant deafness 47	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:11573	listeriosis Aliases: Infection by Listeria monocytogenes Listeria infection	CAT CD44 OCRL SIRT2 SLC5A1	22933 4952 6523 847 960	Homo sapiens (human)
DOID:0060854	autosomal recessive pseudohypoaldosteronism type 1 Aliases: PHA1B autosomal recessive PHA 1	MRC1	4360	Homo sapiens (human)
DOID:0090081	hypogonadotropic hypogonadism 22 with or without anosmia	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:11782	astigmatism	ARSG ART1 COL9A2 MAG MELTF PCYT1A SLC39A8	1298 22901 4099 417 4241 5130 64116	Homo sapiens (human)
DOID:743	dermatographia Aliases: dermatographic urticaria dermographism	PIGT	51604	Homo sapiens (human)
DOID:0110164	Charcot-Marie-Tooth disease type 2D Aliases: CMT2D Charcot-Marie-Tooth disease neuronal type 2D Charcot-Marie-Tooth neuropathy type 2D autosomal dominant Charcot-Marie-Tooth disease type 2D	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:0060216	Cogan syndrome Aliases: Cogan's syndrome diffuse interstitual keratitis	ALDH3A2 DLAT GBA1 GPAA1 INPP5E NGLY1 PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY	1737 224 2629 27315 284098 55650 55768 56623 84720 84992 8733 93210 9487	Homo sapiens (human)
DOID:2007	degeneration of macula and posterior pole Aliases: degeneration of macula and posterior pole of retina degeneration of macula or posterior pole	ACAT1 ACE ACO1 AKR1A1 ALDH3A2 ALDH5A1 ATP6AP2 B3GLCT CALR CAT CD55 CHI3L1 CHST6 CYP1A2 CYP21A2 CYP24A1 CYP27A1 CYP2C19 CYP2R1 CYP46A1 ELOVL4 FADS1 FADS2 FCGR3B FCN2 FMOD FUT6 G6PD GALNS GPX3 HPGDS HS3ST4 HSD11B1 HSPG2 ICAM1 LGALS1 LIPC LPL MAN2B1 MASP1 MBL2 MUTYH NCAM1 OGG1 PARP12 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G12A PLCG2 PNPLA2 PPT1 PTEN RENBP RPE SCD5 SELE SELL SELP SMUG1 SUCLA2 UGT2B17 UNG XYLT1 XYLT2	10159 10327 10858 1116 120227 142 145173 1544 1557 1589 1591 1593 1604 1636 2215 2220 224 2331 23583 2528 2539 2588 27306 2878 3290 3339 3383 38 3956 3990 3992 4023 4125 4153 4166 4595 4684 48 4968 5290 5291 5293 5294 5336 5538 5648 57104 5728 5973 6120 6401 6402 6403 64131 64132 64761 6785 7367 7374 7915 79966 811 81579 847 8803 9415 9951	Homo sapiens (human)
DOID:0110279	autosomal recessive limb-girdle muscular dystrophy type 2E Aliases: Beta-sarcoglycanopathy LGMD2E Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency muscular dystrophy, limb-girdle, type 2E	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:1856	cherubism	ACAN APRT B3GALT6 B3GAT1 DCN EXT1 EXT2 EXTL3 HPSE IDH1 IDH2 PLCG2 PTEN PTGS2 SMUG1 TNKS	10855 126792 1634 176 2131 2132 2137 23583 27087 3417 3418 353 5336 5728 5743 8658	Homo sapiens (human)
DOID:4080	tricuspid valve insufficiency Aliases: Tricuspid incompetence Tricuspid regurgitation Tricuspid valve regurgitation	CHST3 HADHA HADHB PLD1 PTGS2 SDHD	3030 3032 5337 5743 6392 9469	Homo sapiens (human)
DOID:0060868	leukoencephalopathy with vanishing white matter Aliases: CACH CACH/VWM childhood ataxia with central nervous system hypomyelination vanishing white matter leukodystrophy	ACOT12 APRT CHST11 GBA1 HAS2 MICA SCP2 SOAT1	100507436 134526 2629 3037 353 50515 6342 6646	Homo sapiens (human)
DOID:11396	pulmonary edema	ACE ALOX5 CAT CYP11B2 SFTPA1 SGMS1 TNF	1585 1636 240 259230 653509 7124 847	Homo sapiens (human)
DOID:13902	white piedra Aliases: Tinea blanca	ABO ATP6V1A CAT CD14 CD209 CLEC1A CLEC7A CYP2C19 CYP51A1 LGALS1 MBL2 MRC1	1557 1595 28 30835 3956 4153 4360 51267 523 64581 847 929	Homo sapiens (human)
DOID:0060699	familial hypocalciuric hypercalcemia Aliases: FBH FBHH FHH familial benign hypercalcemia familial benign hypocalciuric hypercalcemia	CYP24A1	1591	Homo sapiens (human)
DOID:0050441	mucosulfatidosis Aliases: Sulfatidosis, Juvenile, Austin Type multiple sulfatase deficiency disease	ARSA ARSH CAT SGSH STS SUMF1	285362 347527 410 412 6448 847	Homo sapiens (human)
DOID:12145	detrusor sphincter dyssynergia	SIGLEC7	27036	Homo sapiens (human)
DOID:10937	impulse control disorder	APRT COMT PAFAH1B1 PLCD1 PLCG1	1312 353 5048 5333 5335	Homo sapiens (human)
DOID:0070127	congenital nongoitrous hypothyroidism 3 Aliases: CHNG3	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)

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