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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 **1701 - 1725** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:3191	nemaline myopathy Aliases: Nemaline body disease nemaline rod myopathy rod body disease rod myopathy	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110634	congenital muscular dystrophy 1B Aliases: CMD1B MDC1B congenital muscular dystrophy type 1B	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:3529	congenital myopathy 1A Aliases: central core disease central core myopathy	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	ACACA ACHE ALDH2 B3GALNT2 B4GAT1 CD38 CHKB CNTN1 CRPPA DAG1 FKRP FKTN GBE1 GMPPB HACD1 HK1 INPP5K LARGE1 MTM1 MTMR14 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRKAA2 RXYLT1	10329 10585 11041 1120 1272 148789 1605 217 2218 2632 29925 29954 3098 31 43 4534 51763 55624 5563 64419 729920 79147 84197 84892 9200 9215 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110639	congenital muscular dystrophy due to integrin alpha-7 deficiency Aliases: congenital muscular dystrophy with ITGA7 deficiency congenital muscular dystrophy with integrin alpha-7 deficiency congenital myopathy due to integrin alpha-7 deficiency	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 CRPPA FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 729920 79147 9200 9215 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110632	megaconial type congenital muscular dystrophy Aliases: congenital megaconial myopathy congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect congenital muscular dystrophy with mitochondrial structural abnormalities megaconial congenital muscular dystrophy	ACACA ACHE ALDH2 B4GAT1 CD38 CHKA CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1119 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110636	congenital merosin-deficient muscular dystrophy 1A Aliases: CMD1A MDC1A Merosin-negative congenital muscular dystrophy congenital muscular dystrophy due to laminin alpha2 deficiency	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 CSPG4 DCN FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2 SOAT1	10585 11041 1120 1272 1464 1634 217 2218 2632 3098 31 43 4534 55624 5563 64419 6646 79147 9200 9215 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110633	rigid spine muscular dystrophy 1 Aliases: Eichsfeld type congenital muscular dystrophy MDRS1 RSMD1 RSS SEPN1-related myopathy classic MmD classic multiminicore disease classic multiminicore myopathy congenital merosin-positive muscular dystrophy with early spine rigidity desmin-related myopathy with Mallory bodies desmin-related myopathy with Mallory body-like inclusions early-onset desmin-related myopathy rigid spine syndrome severe classic form minicore myopathy severe classic form multicore myopathy severe classic form multiminicore disease	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:9767	myocardial stunning	CAT SMUG1	23583 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060218	CREST syndrome	CD22 FCGR3B MRC1	2215 4360 933	Homo sapiens (human)	DisGeNET
DOID:14515	WAGR syndrome Aliases: 11p partial monosomy syndrome Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome chromosome 11p13 deletion syndrome	CAT	847	Homo sapiens (human)	DisGeNET
DOID:166	melanotic neuroectodermal tumor Aliases: Infantile Melanotic neuroectodermal neoplasm Melanotic neuroectodermal tumor of infancy Melanotic neuroectodermal tumour of infancy Pigmented neuroectodermal tumour of infancy melanotic neuroectodermal tumour	MELTF	4241	Homo sapiens (human)	DisGeNET
DOID:3369	Ewing sarcoma Aliases: Ewing's family localized tumor Ewing's sarcoma/peripheral primitive neuroectodermal tumor Ewing's tumor Ewings sarcoma Ewings sarcoma-primitive neuroectodermal tumor PNET of Thoracopulmonary Region localized Ewing sarcoma localized Ewing's sarcoma localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor localized Ewing's tumor localized peripheral primitive neuroectodermal tumor peripheral primitive neuroectodermal tumor	ABO ACSS2 AMACR ASAH1 B3GAT1 CD248 CD38 CEACAM5 CHGA CYP2C8 ENO2 GAPDH HMMR HPRT1 KLRK1 LDHA MRC1 MTAP NAMPT NCAM1 NPL PAFAH1B1 PARP1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PTEN PTGS2 SMUG1 XYLT2	10135 1048 1113 142 1558 2026 22914 23583 23600 23659 2597 27087 28 283871 3161 3251 3939 427 4360 4507 4684 5048 5290 5291 5293 5294 55902 57124 5728 5743 64132 80896 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:171	neuroectodermal tumor Aliases: primitive Neuroectodermal neoplasm	ABO AMACR ASAH1 B3GAT1 CD38 CEACAM5 CHGA ENO2 GAPDH HMMR HPGDS MELTF MRC1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SIGLEC7 UGCG	1048 1113 2026 23600 2597 27036 27087 27306 28 283871 3161 4241 427 4360 5290 5291 5293 5294 5728 5743 7357 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0060165	Kleine-Levin syndrome	COMT SMUG1	1312 23583	Homo sapiens (human)	DisGeNET
DOID:8619	recurrent hypersomnia Aliases: primary recurrent hypersomnia	ABAT CD55 CHKB COMT HACD1 LGALS3 PNPLA6 PRNP SMUG1	10908 1120 1312 1604 18 23583 3958 5621 9200	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:11613	hyperandrogenism Aliases: hyperandrogenization syndrome	ACE AKR1C3 CYP11A1 CYP17A1 CYP19A1 CYP21A2 H6PD HSD11B1 HSD17B7 HSD3B2 IL6ST NAMPT PAPSS2 PIK3CA PIK3CB PIK3CD PIK3CG STS UGT2B15	10135 1583 1586 1588 1589 1636 3284 3290 3572 412 51478 5290 5291 5293 5294 7366 8644 9060 9563	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3082	interstitial lung disease Aliases: ILD	ACE ADH5 CANX CD14 CD22 CEACAM5 CEL CHI3L1 CHIT1 CYP2B6 FCER2 FCN2 FCN3 FOLR2 GBA1 GGT1 ICAM1 ICAM2 INPP5E LGALS1 LYZ MRC1 PARP9 PLCG2 SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SLC27A5 SLC2A10 SMPD1 SMUG1 VCAM1	1048 1056 10998 1116 1118 128 1555 1636 2208 2220 2350 23583 2629 2678 3383 3384 3956 4069 4360 5336 56623 6440 6441 653509 6609 729238 7412 81031 821 83666 8482 8547 929 933	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050433	fatal familial insomnia	CHI3L1 MDH1 PRNP	1116 4190 5621	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4554	type C thymoma Aliases: Thymoma, type C	CD74 HACD1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGES2 PTGES PTGS2 SMUG1	23583 5290 5291 5293 5294 5728 5743 80142 9200 9536 972	Homo sapiens (human)	DisGeNET
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:4235	spindle 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:7532	squamous papillomatosis	ALDH3A2 PLA2G4A PTEN PTGES PTGS2	224 5321 5728 5743 9536	Homo sapiens (human)	DisGeNET
DOID:3304	germinoma	ACE AKR1C1 AKR1C3 ALPP AMACR ATRNL1 BRAF CALR CD44 CLEC10A CYP19A1 DHDH GOLPH3 GPC3 HPGDS IDH2 LGALS3 LIPG LPL PARP1 PCYT1A PIGF PIK3CA PIK3CB PIK3CD PIK3CG PRSS21 PSMD10 PTEN SLC2A3 SMUG1 TKTL1	10462 10942 142 1588 1636 1645 23583 23600 250 26033 2719 27294 27306 3418 3958 4023 5130 5281 5290 5291 5293 5294 5716 5728 64083 6515 673 811 8277 8644 9388 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080531	dedifferentiated liposarcoma	CALR ENPP2 FASN KL PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN SDC1 STS	142 2194 412 5168 5290 5291 5293 5294 5716 5728 6382 811 9365	Homo sapiens (human)	DisGeNET

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