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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 **2801 - 2825** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0050883	infantile cerebellar-retinal degeneration	ACO2	50	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:14681	Silver-Russell syndrome Aliases: Silver Russell Dwarfism	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 IGF2 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 3481 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 Alliance of Genome Resources
DOID:2834	acquired polycythemia Aliases: Polycythemia, secondary secondary polycythemia	ACO1 BPGM CD177 CYB5R3 FH FUT1 G6PD HPRT1 PKLR SMUG1	1727 2271 23583 2523 2539 3251 48 5313 57126 669	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110649	long QT syndrome 8 Aliases: LQT8	HEXD OGA PRKAA2	10724 284004 5563	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:5374	pilomatrixoma Aliases: Pilomatricoma benign pilomatricoma	MUTYH SDC1	4595 6382	Homo sapiens (human)	DisGeNET
DOID:13270	erythropoietic protoporphyria Aliases: EPP Protoporphyria	CEL FUT1 PARP9 SLC27A5 SUCLA2	1056 10998 2523 83666 8803	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0080071	mucolipidosis III alpha/beta Aliases: mucolipidosis III pseudo-Hurler polydystrophy	GLB1 GNPTAB GNPTG NAGPA OGA	10724 2720 51172 79158 84572	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2531	hematologic cancer Aliases: Hematologic malignancy Hematologic neoplasm Hematological tumors blood cancer hematopoietic and lymphoid system tumor hematopoietic cancer hematopoietic neoplasm hematopoietic tumors malignant hematopoietic neoplasm	A4GALT ABAT ABO ACE ACSL5 ACSL6 ALPI ALPP CALR CD109 CD22 CD38 CD44 CD74 CEACAM5 CEACAM7 CEL CERS6 CHI3L1 CHKA CHST9 COG1 CYP2B6 CYP2C19 CYP2J2 EBP FCGR3B FOLR2 FUT1 G6PD GPI HPGDS ICAM1 IDH1 IDH2 INPP5D KL KLRC1 LGALS3 LPL MICA MRC1 MSLN NCAM1 PAFAH1B1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PNP PPP1R3A PRKAA2 PTEN PTGS2 RECK SDC1 SELP SFTPA1 SIRT6 SOAT1 SPACA3 SPHK2 TP53 UGCG UGT1A4 UGT2B17	100507436 10232 1048 1056 10682 1087 1116 1119 124912 135228 142 1555 1557 1573 1636 18 2215 23305 2350 248 250 2523 253782 2539 27306 28 2821 3383 3417 3418 3635 3821 3958 4023 4360 4684 4860 5048 5130 51548 51703 5290 5291 5293 5294 5305 53947 54657 5506 5563 56848 5728 5743 6382 6403 653509 6646 7157 7357 7367 811 83539 8434 933 9365 9382 952 960 972	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110347	osteogenesis imperfecta type 15 Aliases: OI15 osteogenesis imperfecta type XV	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)	DisGeNET
DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect Aliases: methylmalonic acidemia, TCblR type methylmalonic aciduria due to transcobalamin receptor defect	MMUT	4594	Homo sapiens (human)	DisGeNET
DOID:14176	selective IgG deficiency disease Aliases: Immunoglobin G subclass deficiency Selective IgG Immunodeficiency Selective Immunoglobulin G Subclass deficiency Selective deficiency of IgG Selective immunoglobulin G deficiency	MBL2	4153	Homo sapiens (human)	DisGeNET
DOID:3672	rhabdoid cancer Aliases: Rhabdoid sarcoma malignant rhabdoid tumour	GPC3 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SMUG1	23583 2719 5290 5291 5293 5294 5743	Homo sapiens (human)	DisGeNET
DOID:0080476	peroxisome biogenesis disorder 1A Aliases: peroxisome biogenesis disorder 1A (Zellweger)	ACOX2 AGPS CAT GNPAT GPD1 HSD17B4 HSD17B7 PAFAH1B1	2819 3295 5048 51478 8309 8443 847 8540	Homo sapiens (human)	DisGeNET
DOID:5050	Ehrlich tumor carcinoma Aliases: Ehrlich tumour carcinoma Ehrlich's tumor Ehrlich's tumour	DHDDS HACD1	79947 9200	Homo sapiens (human)	DisGeNET
DOID:13025	retinopathy of prematurity Aliases: Retrolental fibroplasia premature retinopathy	ACE CAT EPHX2 FCN2 HPSE ICAM1 LGALS1 MCAT PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PSMD10 TM7SF2 TMED5	10855 1636 2053 2220 27349 3383 3956 50999 5290 5291 5293 5294 57104 5716 7108 847	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050158	desquamative interstitial pneumonia Aliases: RBILD familial desquamative interstitial pneumonitis respiratory bronchiolitis-associated interstitial lung disease	COMT SFTPC	1312 6440	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1319	brain cancer Aliases: BT - Brain tumour adult brain tumor adult malignant brain neoplasm brain neoplasm brain neoplasm, adult malignant brain tumour malignant primary brain neoplasm malignant primary brain tumor malignant tumor of Brain malignant tumor of adult brain neoplasm of brain primary brain neoplasm primary brain tumor primary malignant neoplasm of brain tumor of the Brain	ABO ACHE ACSM3 ADH1A AKR1A1 ALDH1A3 ALOX5 ARSA ASAH1 B3GALNT1 BST2 CA4 CACNA2D2 CAT CD248 CD38 CD44 CD48 CD74 CHPT1 CSPG4 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP2C9 CYP2E1 DAG1 DCN DHCR24 ENO2 ENPP1 EXTL3 FASN FDPS FUT4 G6PD GFPT1 GFRA1 GLB1 GLUL GNS GPNMB HK1 HK2 HMMR HPGDS HPSE ICAM1 IDH1 IDH2 IDUA IGF2R IL1RAPL1 L1CAM L2HGDH LDHA LGALS3 MGAT5B MMP25 MRC1 NCAM1 NDUFAB1 NT5E OPCML PARP1 PCYT1A PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLAUR POMT1 PRG3 PSMD10 PTEN PTGDS PTGS2 RTN4R SELL SLC2A3 SLC37A4 SMUG1 SOAT1 SPTLC1 ST3GAL3 ST6GAL1 STS SULF1 SULF2 SULT1E1 TM7SF2 TNKS UGT8 VCAN	10327 10394 10457 10558 10585 10855 11141 124 142 1462 1464 146664 1543 1545 1559 1571 1586 1588 1605 1634 1718 2026 2137 2194 220 2224 23213 23583 240 2526 2539 2542 2673 2674 2720 27306 2752 2799 28 3098 3099 3161 3383 3417 3418 3425 3482 3897 3939 3958 410 412 427 43 4360 4684 4706 4907 4978 5130 5167 5230 5290 5291 5293 5294 5315 5329 55959 56994 57124 5716 5728 5730 5743 6296 6402 64386 6480 6487 65078 6515 6646 6783 684 7108 7368 762 79944 847 8658 8706 9254 952 960 962 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:8472	localized scleroderma Aliases: Morphea Scleroderma, circumscribed or localised Scleroderma, circumscribed or localized circumscribed scleroderma localised morphea localised morphoea localised scleroderma localized morphea	ALDH3A2 CAT CD44 DCN ENPP2 FOLR2 GLB1 ICAM1 KL LGALS3 OXCT1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PTGS2 SELE XYLT2	1634 224 2350 2720 3383 3958 5019 5168 5236 5290 5291 5293 5294 5329 5743 6401 64132 847 9365 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:8929	atrophic gastritis Aliases: gastric atrophy	ABO ACACA ALDH2 CD44 CEACAM5 CHGA CYP2C19 CYP2E1 CYP3A4 DCN GAD1 GLUL GPI L1CAM NAGLU NGLY1 OGG1 PIK3CA PIK3CB PIK3CD PIK3CG PLCE1 PTEN PTGS2 TM7SF2 VTCN1	1048 1113 1557 1571 1576 1634 217 2571 2752 28 2821 31 3897 4669 4968 51196 5290 5291 5293 5294 55768 5728 5743 7108 79679 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110267	cataract 44 Aliases: CTRCT44 total early-onset cataract	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1586	rheumatic fever Aliases: ACUTE RHEUMATIC FEVER RhF - Rheumatic fever	ABO FCGR3B FCN1 FCN2 GALNS ICAM1 IDH1 MASP2 MBL2 PARP1 PIK3C3 PTEN	10747 142 2215 2219 2220 2588 28 3383 3417 4153 5289 5728	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0090027	split hand-foot malformation 2 Aliases: SHFM2	QTRT1 UGT8	7368 81890	Homo sapiens (human)	DisGeNET
DOID:0060295	complement component 2 deficiency	ACADVL ACE CALR CD55 CYP21A2 FCN3 MASP2 MBL2 OTOA	10747 146183 1589 1604 1636 37 4153 811 8547	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0111228	Sveinsson chorioretinal atrophy Aliases: HPCD SCRA atrophia areata helicoid peripapillary chorioretinal degeneration peripapillary chorioretinal degeneration, Icelandic type	CAT CYP1B1 CYP2C19 ENO2 GAD1 GPNMB GPX3 IDS IGF2R MRC1 PIK3CA PIK3CD PIK3CG RPE	10457 1545 1557 2026 2571 2878 3423 3482 4360 5290 5293 5294 6120 847	Homo sapiens (human)	DisGeNET
DOID:8858	tonsil cancer Aliases: malignant Tonsillar tumor malignant neoplasm of faucial tonsil malignant neoplasm of palatine tonsil malignant neoplasm of tonsil, faucial malignant tumor of tonsil	PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1	23583 5290 5291 5293 5294 5728	Homo sapiens (human)	DisGeNET DisGeNET

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