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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 **1301 - 1325** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0112127	HRPT-related hyperuricemia Aliases: HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I hypoxanthine guanine phosphoribosyltransferase partial deficiency	HPRT1	3251	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110900	inflammatory bowel disease 2 Aliases: IBD2	GALM	130589	Homo sapiens (human)	DisGeNET
DOID:0060025	immunoglobulin alpha deficiency Aliases: IgA deficiency gamma-A-globulin deficiency	AGA CLEC16A CYP21A2 FUT2 FUT3 MBL2 PTEN SDC1	1589 175 23274 2524 2525 4153 5728 6382	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060677	catecholaminergic polymorphic ventricular tachycardia 3 Aliases: CVPT3	ACADVL ACE CALR CHPT1 FKRP FUT1 GOLPH3 GYG1 PTGS2 SCD	1636 2523 2992 37 56994 5743 6319 64083 79147 811	Homo sapiens (human)	DisGeNET
DOID:4543	retrograde amnesia	ACHE ACSF3 ALOX5 ARSA ARSD CAT CD44 CD74 CHAT CHI3L1 COMT CPT1A CYP1A2 CYP1B1 ELOVL3 FKRP FUT10 GAD1 GLUL GNE GPX1 HGSNAT HSD11B1 HSD11B2 IDS INPPL1 KL LGALS3 LGALS4 MYORG NAGLU NT5E OGA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLA2G6 PLD1 PLD2 PPT1 PRKAA2 PRNP PSAP PTEN PTGS1 PTGS2 SDHD SFTPA1 SLC17A5 SMPD1 SMUG1 SPHK2 ST3GAL4 STS SUCLA2 SYNJ1 UGT1A1	10020 10724 1103 1116 1312 1374 138050 142 1544 1545 197322 23583 240 2571 26503 2752 2876 3290 3291 3423 3636 3958 3960 410 412 414 43 4669 4907 5290 5291 5293 5294 5315 5321 5337 5338 54658 5538 5563 5621 5660 56848 5728 5742 5743 57462 6392 6484 653509 6609 79147 83401 8398 847 84750 8803 8867 9365 960 972	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:1875	impotence Aliases: Sexual impotence erectile dysfunction	ACE ACHE ACSS2 AKT1 ALDH7A1 BAD CDH13 CYP19A1 ENO2 HEXB HJV HMGCS2 HS6ST1 LPL PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PNPLA2 SDC1 SOAT1 TNF	1012 148738 1588 1636 2026 207 23659 3074 3158 4023 43 501 5130 5290 5291 5293 5294 55902 57104 572 6382 6646 7124 9394	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111865	MEND syndrome Aliases: male EBP disorder with neurological defects	EBP	10682	Homo sapiens (human)	Alliance of Genome Resources
DOID:349	systemic mastocytosis Aliases: SMCD - systemic mast cell disease systemic tissue mast cell disease	CALR CD33 CD38 CEL ETNK1 FCER2 FH SMPD1	1056 2208 2271 55500 6609 811 945 952	Homo sapiens (human)	DisGeNET
DOID:0050590	severe congenital neutropenia	ABO ACE AGA B3GAT1 CD177 CD33 CEL CHPT1 COG4 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP39A1 CYP3A5 DHDDS FCGR3B FH G6PC1 G6PC3 HMMR IDUA LPIN2 MBL2 MMUT NAMPT NCAM1 PARP1 PARP9 PCCA PCCB PGM3 PIK3CA PIK3CB PIK3CD PIK3CG SELP SLC17A5 SLC27A5 SLC35A1 SLC35A2 SLC37A4 TMTC3 TNFRSF10C UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS	10135 10559 1056 10998 142 1545 1555 1557 1558 1559 1577 160418 1636 175 2215 2271 2538 2542 25839 26503 27087 28 3161 3425 4153 4594 4684 5095 5096 51302 5238 5290 5291 5293 5294 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 56994 57126 6403 7355 7372 79947 83666 8794 92579 945 9663	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110719	Warburg micro syndrome 4 Aliases: Micro Syndrome 4 WARBM4	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:5273	cutaneous leiomyosarcoma Aliases: leiomyosarcoma of the skin	FH	2271	Homo sapiens (human)	DisGeNET
DOID:3356	localized osteosarcoma Aliases: localised Osteogenic sarcoma localised osteosarcoma localized Osteogenic sarcoma	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:0110946	autosomal recessive osteopetrosis 7 Aliases: OPTB7 autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia autosomal recessive osteopetrosis type 7 osteoclast-poor osteopetrosis with hypogammaglobulinemia osteopetrosis-hypogammaglobulinemia syndrome	AGXT ALPL ARSA ATP6V0A2 CLC DEGS1 DHCR24 ENPP1 EXTL2 EXTL3 GBA1 HSPG2 LPIN2 PTDSS1 SLC26A2 TBXAS1	1178 1718 1836 189 2135 2137 23545 249 2629 3339 410 5167 6916 8560 9663 9791	Homo sapiens (human)	DisGeNET DisGeNET
DOID:13223	uterine fibroid Aliases: Plexiform leiomyoma UTERUS FIBROMA leiomyoma of Corpus Uteri uterine leiomyoma	ACE AKR1B1 CD38 CD44 CHST3 COG5 COG6 COMT CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP24A1 CYP2B6 CYP4F3 DHCR24 EBP EDEM2 ENO1 FASN FH FMOD GLB1 HK3 HPGDS HPSE2 HSD17B1 HSD17B2 HSD17B7 IL18R1 LGALS3 OGG1 PARP1 PGAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B POGLUT3 PTEN PTGS2 RECK SDHB SLC2A4 SMUG1 SORD TKTL1 UGT1A8 VCAN	10466 10682 1312 142 143888 1462 1543 1545 1555 1586 1588 1591 1636 1718 2023 2194 2271 231 2331 23583 2720 27306 3101 3292 3294 3958 4051 4968 51478 5223 5290 5291 5293 5294 5319 54576 55741 5728 5743 57511 60495 6390 6517 6652 8277 8434 8809 9469 952 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0050558	Ullrich congenital muscular dystrophy Aliases: ULLRICH DISEASE Ullrich scleroatonic muscular dystrophy	COL6A1 CSPG4	1291 1464	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060283	peeling skin syndrome Aliases: deciduous skin familial continuous skin peeling syndrome keratosis exfoliativa congenita peeling skin disease	BST2 CHST8 GPI KLRB1	2821 3820 64377 684	Homo sapiens (human)	DisGeNET
DOID:0090142	cystathioninuria Aliases: cystathionase deficiency cystathione gamma-lyase deficiency syndrome gamma-cystathionase deficiency	ACAT1	38	Homo sapiens (human)	DisGeNET
DOID:970	tenosynovitis Aliases: Inflammation of tendon sheath	ACLY ACSS2 CD44 CYP19A1 DHCR24 EFNA5 FOLR2 GPI HSD11B1 ICAM1 LGALS3 LPIN2 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PRKAA2 PRNP PTGS1 SDC4 SMUG1 SOAT1 SPHK2 VCAM1	1588 1718 1946 2350 23583 23659 2821 3290 3383 3958 47 5290 5291 5293 5294 5563 55902 5621 56848 5742 6385 6646 7412 960 9663	Homo sapiens (human)	DisGeNET DisGeNET
DOID:5890	malignant adult ependymoma	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:1272	telangiectasis Aliases: telangiectasia	ACE CEACAM5 DGKE DPM1 PEMT PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELE TALDO1	10400 1048 1636 27315 284098 5290 5291 5293 5294 55650 5728 6401 6888 84720 84992 8526 8813 93210 9487	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0112136	severe congenital neutropenia 4 Aliases: Dursun syndrome SCN4 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome	G6PC3	92579	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060605	obsolete anterior segment mesenchymal dysgenesis	CYP1B1	1545	Homo sapiens (human)	DisGeNET
DOID:8931	Evans' syndrome	ABO ACSBG1 CD38 CD44 CD72 CLEC1B FCGR3B FCN2 GALC HPSE2 HPSE IL1R1 KLRD1 LGALS9 MBD4 MBL2 MICA MRC1 NCAM1 PNP PTEN PTGS1 PTGS2 SELE SELP SMPD1 STS VNN1	100507436 10855 2215 2220 23205 2581 28 3554 3824 3965 412 4153 4360 4684 4860 51266 5728 5742 5743 60495 6401 6403 6609 8876 8930 952 960 971	Homo sapiens (human)	DisGeNET
DOID:0110505	autosomal recessive nonsyndromic deafness 48 Aliases: DFNB48 autosomal recessive deafness 48	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:9651	systolic heart failure	ACE CYP19A1 LGALS3 PTGS2 SFTPA1	1588 1636 3958 5743 653509	Homo sapiens (human)	DisGeNET

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