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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 **5026 - 5050** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:6193	epithelioid sarcoma Aliases: epithelioid cell sarcoma	ACAN ACSL4 ACSS2 ANXA5 ARSF B3GAT1 CD109 CD14 CD1D CD248 CD44 CEL CHSY1 CMAS COL9A2 CSPG4 DCN DHCR24 ENPP2 EXTL3 FBP2 FCGR3B GLUL GPC3 GPC5 HK2 HPRT1 HPSE IDH1 IDH2 ISYNA1 KLRK1 LGALS1 LSS MRC1 MTAP NANS NCAM1 OGA OS9 PARP1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLAUR PLD2 PTEN PTGS2 SDHA SDHB SDHC SELP SIRT2 SLC27A5 SMUG1 STS TM7SF2 UGT1A1	1056 10724 10855 10956 10998 1298 135228 142 1464 1634 1718 176 2137 2182 2215 2262 22856 22914 22933 23583 23659 27087 2719 2752 308 3099 3251 3417 3418 3956 4047 412 416 4360 4507 4684 51477 5168 5290 5291 5293 5294 5329 5338 54187 54658 55902 55907 57124 5728 5743 6389 6390 6391 6403 7108 83666 8789 912 929 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:5230	hepatoerythropoietic porphyria	HPSE	10855	Homo sapiens (human)	DisGeNET
DOID:11720	distal myopathy Aliases: distal muscular dystrophy	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB COMT 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 1312 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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110539	autosomal recessive nonsyndromic deafness 97 Aliases: DFNB97 autosomal recessive deafness 97	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)	DisGeNET
DOID:0080941	acquired angioedema	XPNPEP2	7512	Homo sapiens (human)	Alliance of Genome Resources
DOID:687	hepatoblastoma	ACOX2 AKR1B1 ALDOC APRT BAAT CAT CD44 CYP1A1 CYP1A2 CYP2B6 CYP3A4 CYP4F3 CYP7A1 DPEP1 G6PD GLB1 GLUL GPC3 HK1 HMGCS1 HPRT1 HSPG2 ICAM1 IL1RL1 LPIN1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PPAT PSMD10 PTEN PTGS2 RGN SELENOI SLC33A1 SLC35G1 SLC37A4 SMUG1 SOAT1	142 1543 1544 1555 1576 1581 159371 1800 230 231 23175 23583 2539 2542 2719 2720 2752 3098 3157 3251 3339 3383 353 4051 5290 5291 5293 5294 5471 570 57104 5716 5728 5743 6646 8309 847 85465 9104 9173 9197 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:14265	pulmonary valve insufficiency Aliases: Pulmonic insufficiency Pulmonic valve regurgitation pulmonary incompetence pulmonary incompetence, non-rheumatic pulmonary insufficiency following trauma and surgery pulmonary regurg. pulmonary regurgitation	SFTPA1 SFTPA2 SFTPC	6440 653509 729238	Homo sapiens (human)	DisGeNET
DOID:7213	transitional meningioma Aliases: transitional (mixed) meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0090090	hypogonadotropic hypogonadism 19 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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0112349	hereditary spastic paraplegia 81 Aliases: SPG81 autosomal recessive complex SPG due to Kennedy pathway dysfunction autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction spastic paraplegia 81 autosomal recessive	SELENOI	85465	Homo sapiens (human)	Alliance of Genome Resources
DOID:9598	fasciitis	GAPDH PTGS2	2597 5743	Homo sapiens (human)	DisGeNET
DOID:326	ischemia	ABAT AKT2 ANXA5 CYP2E1 LIPC PTGES PTGS2 SELL TP53	1571 18 208 308 3990 5743 6402 7157 9536	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0081023	retinal cone dystrophy 4	CACNA2D4	93589	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110763	hereditary spastic paraplegia 10 Aliases: SPG10 autosomal dominant spastic paraplegia 10 autosomal dominant spastic paraplegia type 10	B4GALNT1 CPT1C CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 126129 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)	DisGeNET DisGeNET
DOID:2749	glycogen storage disease Ia	ABO ACADM AGL AGXT AKR1B1 ALDOA ALG9 APRT ARSA CYP4F3 EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 G6PD GAA GALE GALK1 GALT GBE1 GLA GPI GYG1 GYG2 GYS2 HADHA HK1 HPGDS ICAM1 IDS IGF2R LDHA LGALS1 LPL MGAM MGAT1 MPDU1 MTM1 NDUFAB1 PFKL PFKM PGAM2 PGK1 PGM1 PYGL PYGM SI SLC2A2 SLC2A4 SLC35A2 SLC37A4 SLC3A1 TKT UGP2 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT8 VCAM1	178 189 1962 2027 2203 226 231 2538 2539 2542 2548 2582 2584 2592 2632 2717 27306 28 2821 2992 2998 3030 3098 3383 34 3423 3482 353 3939 3956 4023 4051 410 4245 4534 4706 5211 5213 5224 5230 5236 54575 54576 54577 54578 54657 54658 57818 5836 5837 6476 6514 6517 6519 7086 7355 7360 7368 7412 7957 79796 8908 8972 92579 9526	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0111120	nephronophthisis 9 Aliases: NPHP9	LGALS1	3956	Homo sapiens (human)	DisGeNET
DOID:12384	dysentery Aliases: Infectious diarrhea	ACOT7 APRT IL18R1 LCT LYZ SULT1E1	11332 353 3938 4069 6783 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0060766	autosomal dominant Robinow syndrome 1 Aliases: DRS1	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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0111680	essential fructosuria Aliases: fructokinase deficiency hepatic fructokinase deficiency ketohexokinase deficiency	KHK	3795	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112377	muscular dystrophy-dystroglycanopathy type B14 Aliases: MDDGB14 congenital muscular dystrophy GMPPB-related	GMPPB	29925	Homo sapiens (human)	Alliance of Genome Resources
DOID:9423	blepharitis	MSMO1 PIGN PLCD1 SMC3	23556 5333 6307 9126	Homo sapiens (human)	DisGeNET
DOID:13353	diffuse interstitial keratitis	DLAT GBA1 GPAA1 INPP5E NGLY1 PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY	1737 2629 27315 284098 55650 55768 56623 84720 84992 8733 93210 9487	Homo sapiens (human)	DisGeNET
DOID:0060847	Leri-Weill dyschondrosteosis	EXT1 EXT2	2131 2132	Homo sapiens (human)	DisGeNET
DOID:3146	lipid metabolism disorder Aliases: dyslipidemia fatty acid metabolism disorder	ALDH3A2 CPT1A CPT2 CYP7B1 DGAT1 DHCR24 FADS2 HADHA HADHB HSD17B4 LEP LIPC LPIN1 LPIN2 LPIN3 PPARA	1374 1376 1718 224 23175 3030 3032 3295 3952 3990 5465 64900 8694 9415 9420 9663	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080123	mitochondrial DNA depletion syndrome 4b Aliases: mitochondrial neurogastrointestinal encephalopathy syndrome	TYMP	1890	Homo sapiens (human)	DisGeNET

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