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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 **3551 - 3575** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0110351	osteogenesis imperfecta type 11 Aliases: OI11 osteogenesis imperfecta type XI	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:13593	eclampsia Aliases: Eclampsia in puerperium Eclampsia, postpartum Postpartum eclampsia	ABO ACE ADH5 ANXA5 ATP6AP2 CALR CD14 COMT CYP11B2 CYP2C9 DGKI HSD11B2 IL18R1 KLRB1 LPL MBL2 PTGS1 PTGS2 SORD	10159 128 1312 1559 1585 1636 28 308 3291 3820 4023 4153 5742 5743 6652 811 8809 9162 929	Homo sapiens (human)
DOID:0090025	split hand-foot malformation 3 Aliases: SHFM3 chromosome 10q24 duplication syndrome distal limb deficiencies with micrognathia	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:4897	bile duct carcinoma	ACE AKR1A1 AKR1B10 ALDH1A3 ALDOA ALOX15 ALOX5 ANXA4 ANXA5 APRT CAT CBR1 CD14 CD44 CEACAM5 CEACAM6 CEACAM7 CYP19A1 CYP1A1 CYP1A2 CYP24A1 CYP27B1 DLAT ENO1 ENPP1 ENPP3 FBP1 FCGR3B FUT1 FUT2 FUT3 GALNS GGT1 GLUL GPC1 GPC3 HK2 HPSE IDH1 IDH2 IGF2R KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 MGAT5 MRC1 MSLN MUTYH NCAM1 NEIL1 NEU1 NT5E OGG1 OPCML PARP1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PKM PLA2G4A PSMD10 PTEN PTGES PTGS2 RECK SDC1 SIRT2 SMUG1 SPHK1 SPHK2 STS UGT1A10 UMPS VTCN1	10232 10327 1048 10855 1087 142 1543 1544 1588 1591 1594 1636 1737 2023 220 2203 2215 226 22914 22933 23583 240 246 2523 2524 2525 2588 2678 2719 2752 2817 307 308 3099 3417 3418 3482 353 3897 3939 3956 3958 3965 412 4249 4360 4595 4680 4684 4758 4907 4968 4978 5160 5167 5169 5290 5291 5293 5294 5311 5315 5321 54575 56848 57016 5716 5728 5743 6382 7372 79661 79679 8434 847 873 8877 929 9536 960	Homo sapiens (human)
DOID:1064	cystinosis Aliases: cystine storage disease	AGPAT2 APRT CTNS CYP51A1 EHHADH GPX3 LGALS3 NAGLU OCRL PRKAA2 SLC2A2 SLC5A1 VNN1 VNN2	10555 1497 1595 1962 2878 353 3958 4669 4952 5563 6514 6523 8875 8876	Homo sapiens (human)
DOID:0110240	cataract 20 multiple types Aliases: CTRCT20	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)
DOID:0060810	syndromic X-linked intellectual disability type 10 Aliases: HSD10 deficiency, atypical type HSD10 disease, atypical type MRXS10 X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome mental retardation, X-linked syndromic 10	ACADSB ACAT2 ALG13 ARSA B3GALNT2 CACNA2D2 DHCR7 GM2A LMAN2L MAN1B1 MBOAT7 MECR MYORG NDST1 NGLY1 PGAP1 PIGC PLA2G6 PRNP PSAP SMUG1 ST3GAL3 TECR TUSC3	11253 148789 1717 23583 2760 3340 36 39 410 51102 5279 55768 5621 5660 57462 6487 79143 79868 7991 80055 81562 8398 9254 9524	Homo sapiens (human)
DOID:12720	cerebral atherosclerosis	ACE ACHE IMPA1	1636 3612 43	Homo sapiens (human)
DOID:2640	struma ovarii	SMUG1	23583	Homo sapiens (human)
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	ALG8 ALG9 GANAB LRP5 PKD1 PKD2 PRKCSH UCP2	23193 4041 5310 5311 5589 7351 79053 79796	Homo sapiens (human)
DOID:2679	dysembryoplastic neuroepithelial tumor Aliases: Dysembryoplastic Neuroepithelial neoplasm dysembryoplastic neuroepithelial tumour	BRAF IDH1 PIK3CA PIK3CB PIK3CD PIK3CG	3417 5290 5291 5293 5294 673	Homo sapiens (human)
DOID:0090114	Sorsby's fundus dystrophy Aliases: SFD hemorrhagic macular dystrophy pseudoinflammatory fundus dystrophy of Sorsby	RPE	6120	Homo sapiens (human)
DOID:422	congenital structural myopathy	ACHE B4GAT1 CD38 CHAT CHKB CLEC10A CYP19A1 FKRP FKTN GFPT1 GMPPB HACD1 IDS LARGE1 MTM1 MTMR14 MTMR1 MTMR2 OVGP1 POMGNT1 POMT1 SIRT4 SLC2A4	10462 10585 1103 11041 1120 1588 2218 23409 2673 29925 3423 43 4534 5016 55624 64419 6517 79147 8776 8898 9200 9215 952	Homo sapiens (human)
DOID:13208	background diabetic retinopathy Aliases: Non proliferative diabetic retinopathy Non-Proliferative Diabetic Retinopathy	ACE AKR1A1 CAT PLA2G7 SORD	10327 1636 6652 7941 847	Homo sapiens (human)
DOID:5444	spiradenoma Aliases: Eccrine spiradenoma Eccrine spiradenoma of skin benign eccrine spiradenoma	LYZ	4069	Homo sapiens (human)
DOID:0060578	Noonan syndrome 1 Aliases: NS1	ACADS ACHE AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GBE1 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 2632 2653 2720 2731 275 2821 3339 35 410 412 414 43 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:3356	localized osteosarcoma Aliases: localised Osteogenic sarcoma localised osteosarcoma localized Osteogenic sarcoma	SMUG1	23583	Homo sapiens (human)
DOID:4257	Caffey disease Aliases: cortical congenital hyperostosis infantile cortical hyperostosis	A4GALT	53947	Homo sapiens (human)
DOID:0060013	X-linked severe combined immunodeficiency Aliases: SCID-X1 XSCID gamma chain deficiency thymic epithelial hypoplasia	FUT1 IL18R1 PGK1	2523 5230 8809	Homo sapiens (human)
DOID:11554	Chandler syndrome Aliases: Chandler's syndrome Dystrophy of corneal endothelium Endothelial corneal dystrophy Posterior membrane corneal dystrophy	NEIL1 PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294 79661	Homo sapiens (human)
DOID:4989	pancreatitis	ABO ACE ADH1B ADH1C ADH4 ADH5 AGPAT2 AKR1A1 AKR1B10 ALDH2 AMACR AMT AMY2A BCKDHA BCKDHB CAT CD14 CD38 CEACAM5 CEL CPTP CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP2E1 DBT FCGR3B FUT2 G6PC1 GPI GPIHBP1 HMGCL HPSE HTR2A ICAM1 ISYNA1 KL LEPR LGALS3 LPL MBL2 MMUT MTAP PCCA PCCB PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLA2G7 PLAUR PNLIP PNLIPRP2 PTEN PTGS2 QTRT1 REG1B SELE SELL SFTPD SIRT2 SLC17A5 SLC37A4 SMUG1 SPHK2 SRD5A2 ST8SIA4 SULF1 SULF2 TIGAR TLR2 TLR4 TM7SF2 UGT1A7 UMOD VCAM1	10327 1048 10555 1056 10855 125 126 127 128 1543 1545 1571 1586 1591 1629 1636 217 2215 22933 23213 23583 23600 2524 2538 2542 26503 275 279 28 2821 3155 3356 3383 338328 3953 3958 4023 4153 4507 4594 5095 5096 51477 5290 5291 5293 5294 5320 5329 5406 5408 54577 55959 56848 57016 57103 5728 5743 593 594 5968 6401 6402 6441 6716 7097 7099 7108 7369 7412 7903 7941 80772 81890 847 929 9365 952	Homo sapiens (human)
DOID:1496	echinococcosis Aliases: Echinococcosis of liver echinococcal disease hepatic echinococcosis hydatid disease hydatidosis liver echinococcus pulmonary echinococcosis	ABO CYP1A1	1543 28	Homo sapiens (human)
DOID:11726	Emery-Dreifuss muscular dystrophy Aliases: EDMD	G6PD	2539	Homo sapiens (human)
DOID:0110124	Bardet-Biedl syndrome 2 Aliases: BBS2	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:2615	papilloma Aliases: papillomatosis	ALDH3A2 AMACR ARSF B3GAT1 CALR CAT CEACAM5 DCN EBP GLB1 GOLPH3 ICAM1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G4A PTEN PTGES PTGS2 SDC1 SDHB SDHC SDHD ST8SIA4 STS TM7SF2 XYLT2	1048 10682 1634 224 23600 27087 2720 3383 412 416 5290 5291 5293 5294 5310 5321 5728 5743 6382 6390 6391 6392 64083 64132 7108 7903 811 847 9536	Homo sapiens (human)

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