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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 **2576 - 2600** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:206	hereditary multiple exostoses Aliases: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas	ACAN CHST3 EXT1 EXT2 EXTL1 EXTL2 EXTL3 HPSE HSPG2 IDH1 IDH2 SDC2 SLC35B2 SULT1E1 UXS1	10855 176 2131 2132 2134 2135 2137 3339 3417 3418 347734 6383 6783 80146 9469	Homo sapiens (human)
DOID:4540	dysgraphia	PIK3CA	5290	Homo sapiens (human)
DOID:0080217	lysosomal acid lipase deficiency Aliases: LAL deficiency LAL-D	CAT CEL CHIT1 LIPA LIPF NCAM1 SOAT2	1056 1118 3988 4684 8435 847 8513	Homo sapiens (human)
DOID:12514	retinal perforation Aliases: Retinal break Retinal dialysis Retinal tear	GALNS RPE	2588 6120	Homo sapiens (human)
DOID:0060058	lymphoma Aliases: lymphoid cancer	ABO ACAA1 ACACA ACE ACOX1 ACSBG1 ACSF3 AKR1A1 AKR1C1 AKR1C3 ALG1 ALOX12 ALPI ALPP AMT ANXA5 APRT ATRNL1 CALR CANX CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD55 CD74 CDH13 CEL CFC1 CHPT1 CLEC10A CNTN2 COMT CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP3A4 DHDDS ENO2 ENOSF1 EPHX2 EPM2A FCER2 FCGR3B FCN2 FH FMOD G6PD GBA1 GCSH GGT1 GLB1 GPC5 GPI GPX1 HEXA HK2 HMMR HPGDS HPRT1 HPSE HYAL2 ICAM1 IDH1 IDH2 IL1R1 IL1RL1 INPP4B INPP5D ISYNA1 KLRC1 KLRD1 KLRK1 LDHA LGALS1 LGALS3 LGALS9 LY6K MASP2 MBL2 MCAT MLYCD MRC1 MTAP NAMPT NCAM1 NDUFAB1 NTHL1 OGG1 OPCML PAFAH1B1 PAFAH1B2 PARP1 PARP4 PARP9 PC PGM3 PGP PIGK PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 PLD2 PLOD3 PNP PPP1R3A PTEN PTGDS PTGES PTGS2 RTN4R SDC1 SELE SELL SHMT1 SHMT2 SLC27A5 SLC2A3 SLC35A2 SLC35B2 SMC3 SMUG1 SOAT1 SPHK2 ST6GALNAC5 STS SULT1E1 TIGAR TKTL1 TMEM260 TMTC3 TNFRSF10C UNG VCAM1 VTCN1	10026 1012 10135 10327 10462 1056 10747 10855 10998 1312 142 143 1543 1545 1555 1559 1571 1576 1586 1591 1594 1604 160418 1636 1645 197322 2026 2053 2208 2215 2220 2262 2271 22914 23205 2331 23417 23583 239 248 250 2539 26033 2629 2653 2678 2720 27306 27349 275 28 2821 283871 2876 30 3073 308 3099 31 3161 3251 3383 3417 3418 347734 353 3554 3635 3821 3824 3939 3956 3958 3965 412 4153 4360 4507 4684 4706 4860 4913 4968 4978 5048 5049 5091 51 51477 5238 5290 5291 5293 5294 5336 5338 54742 54916 5506 55556 55997 56052 56848 56994 57103 5728 5730 5743 6382 6401 6402 6470 6472 65078 6515 6646 6783 6900 7355 7374 7412 7957 79679 79947 811 81849 821 8277 83666 847 8644 8692 8794 8821 8985 912 9126 9173 929 933 945 952 9536 960 962 972	Homo sapiens (human)
DOID:0111256	hyperferritinemia-cataract syndrome Aliases: Bonneau-Beaumont syndrome HHCS HRFTC cataract-hyperferritinemia syndrome hereditary hyperferritinemia with congenital cataracts hereditary hyperferritinemia-cataract syndrome hyperferritinemia with or without cataract	GCNT2	2651	Homo sapiens (human)
DOID:26	pancreas disease	ACE ALDH2 CEL CYP2E1 MSLN PLA2G2A PRPS1 PTEN	10232 1056 1571 1636 217 5320 5631 5728	Homo sapiens (human)
DOID:0050466	Loeys-Dietz syndrome	IDUA SLC2A10	3425 81031	Homo sapiens (human)
DOID:0060538	purpura fulminans Aliases: purpura gangrenosa	ANXA5 CD14 COLEC11 MASP1 MBL2 NCAM1 PC PLD1 SDC1 SELL SLC17A5	26503 308 4153 4684 5091 5337 5648 6382 6402 78989 929	Homo sapiens (human)
DOID:4676	uremia Aliases: UREMIA OF renal ORIGIN	ACE ACSS2 AGL AGXT AKR1B1 ALPL ALPP APRT ATP6AP2 ATRNL1 CAT COMT CTSA CYP11B2 CYP24A1 CYP3A4 DCN DEGS1 DGKE ENPP1 FCGR3B G6PC1 GCNT2 GGT1 GLA HAGH HSPG2 ICAM1 IDH2 KL KLB LCAT LYZ MASP1 MBL2 NAMPT OCRL PARP1 PIK3C3 PKD1 PKD2 PLA2G15 PLA2G7 PTGS1 PTGS2 RENBP RGN SDC1 SDC2 SELL SLC17A5 SLC35G1 SMUG1 TM7SF2 UMOD VCAM1	10135 10159 1312 142 152831 1576 1585 1591 159371 1634 1636 178 189 2215 231 23583 23659 249 250 2538 26033 26503 2651 2678 2717 3029 3339 3383 3418 353 3931 4069 4153 4952 5167 5289 5310 5311 5476 55902 5648 5742 5743 5973 6382 6383 6402 7108 7369 7412 7941 847 8526 8560 9104 9365	Homo sapiens (human)
DOID:0060327	omphalocele Aliases: omphalocoele	ACSS2 AGA AGPAT2 ARSB ATP6V0A2 B3GLCT CHST14 COLEC10 COLEC11 COMT FREM1 GNPTAB GPC3 GPC6 GUSB IDS LFNG MASP1 NSDHL OCRL PAFAH1B1 PIGN PIGP PIGQ PIGS PLA2G15 SLC26A2 SLC2A10 TGDS	10082 10555 10584 113189 1312 145173 158326 175 1836 23483 23545 23556 23659 2719 2990 3423 3955 411 4952 5048 50814 51227 55902 5648 78989 79158 81031 9091 94005	Homo sapiens (human)
DOID:0110980	Joubert syndrome 1 Aliases: CORS1 CPD4 JBTS1 cerebellooculorenal syndrome 1 cerebelloparenchymal disorder IV	GYS2 INPP5B INPP5E SYNJ1 SYNJ2	2998 3633 56623 8867 8871	Homo sapiens (human)
DOID:3081	cystic lymphangioma Aliases: cystic Hygroma	LPL PIK3CA SLC26A2 TGDS	1836 23483 4023 5290	Homo sapiens (human)
DOID:9406	hypopituitarism Aliases: Pituitary insufficiency pituitary hormone deficiency	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:2997	Sertoli-Leydig cell tumor	HSD17B1 LGALS3	3292 3958	Homo sapiens (human)
DOID:8781	rubella Aliases: german measles	ABO CANX FCN2 HPGDS IL18R1 MRC1	2220 27306 28 4360 821 8809	Homo sapiens (human)
DOID:2152	ovary epithelial cancer Aliases: Ovarian Surface epithelial-Stromal tumor	PIK3CA PTGES	5290 9536	Homo sapiens (human)
DOID:4346	variegate porphyria Aliases: Protocoproporphyria Protoporphyrinogen oxidase deficiency	CAT	847	Homo sapiens (human)
DOID:0050456	Buruli ulcer disease Aliases: Bairnsdale ulcer Daintree ulcer Mossman ulcer Searl ulcer Searle's ulcer	LTA4H	4048	Homo sapiens (human)
DOID:7210	psammomatous 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)
DOID:0060695	hyperekplexia Aliases: Kok disease congenital stiff man syndrome familial startle disease hereditary hyperekplexia startle disease	PRNP	5621	Homo sapiens (human)
DOID:11975	coloboma of optic nerve Aliases: Coloboma of optic disc Morning glory syndrome	INPP5E PMM2	5373 56623	Homo sapiens (human)
DOID:0110730	neuronal ceroid lipofuscinosis 6B Aliases: CLN4A autosomal recessive neuronal ceroid lipofuscinosis 4A neuronal ceroid lipofuscinosis 4A	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP	1203 22901 2571 2572 3956 47 5310 5538 5660 7957 9374	Homo sapiens (human)
DOID:2382	kernicterus Aliases: bilirubin encephalopathy	CAT CHAT G6PD UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8	1103 2539 54575 54576 54577 54578 54657 54658 847	Homo sapiens (human)
DOID:0090041	torsion dystonia 4	ALDH5A1	7915	Homo sapiens (human)

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