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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 **4151 - 4175** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110457	dilated cardiomyopathy 1Y Aliases: CMD1Y	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)	DisGeNET
DOID:4988	alcoholic pancreatitis	ADH1B ADH1C ADH4 AKR1A1 ALDH2 CD14 CEL CYP2E1 HPGDS LPL UGT1A7	10327 1056 125 126 127 1571 217 27306 4023 54577 929	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4151	skull base chordoma Aliases: Chordoma of the Skull Base	LGALS3 LGALS9 PIK3CA PIK3CB PIK3CD PIK3CG	3958 3965 5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:0060707	lymphoproliferative syndrome 1 Aliases: LPFS1	ACSBG1 ASAH2 CD14 CD22 CD38 CD44 CEL CNTN2 EBP FCER2 FCGR3B FH ICAM1 IL18R1 IL1R1 KLRB1 KLRD1 LGALS1 MLYCD MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC1 SLC27A5 SLC35B2 SMUG1 SOAT1	1056 10682 10998 2208 2215 2271 23205 23417 23583 3383 347734 3554 3820 3824 3956 4360 4684 5290 5291 5293 5294 5315 56624 6382 6646 6900 83666 8809 929 933 952 960	Homo sapiens (human)	DisGeNET
DOID:3277	thymus cancer Aliases: Thymic tumor neoplasm of thymus thymic neoplasm	LGALS1 PTEN	3956 5728	Homo sapiens (human)	DisGeNET
DOID:8445	intestinal volvulus Aliases: Twist of intestine, bowel, or colon Volvulus familial intestinal malrotation volvulus of midgut	ENO1 HK1 HPGDS PIGQ SMC3	2023 27306 3098 9091 9126	Homo sapiens (human)	DisGeNET
DOID:2033	communication disorder	ARSD DLD GPD2 PPP1R3A PRPS1 PTEN STS	1738 2820 412 414 5506 5631 5728	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:1428	endocrine pancreas disease	GCK PDHX	2645 8050	Homo sapiens (human)	DisGeNET
DOID:9395	croup Aliases: Croup syndrome Laryngotracheobronchitis acute Obstructive Laryngitis acute laryngotracheobronchitis	CD14	929	Homo sapiens (human)	DisGeNET
DOID:12662	paracoccidioidomycosis Aliases: Mucocutaneous-lymphangitic paracoccidioidomycosis paracoccidioidal mycosis	CD209 CHST3 CLEC7A G6PD GPI ICAM1 IL1RL1 LGALS3 SFTPD STS TNF TPI1	2539 2821 30835 3383 3958 412 6441 64581 7124 7167 9173 9469	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3805	porokeratosis Aliases: disseminated superficial actinic porokeratosis	FDPS	2224	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:13774	Addison's disease Aliases: Addison disease Addison disease, chronic adrenal insufficiency HYPOADRENOCORTICISM, FAMILIAL primary adrenocortical insufficiency primary hypoadrenalism	CD14 CLEC16A CYP11A1 CYP11B1 CYP17A1 CYP21A2 CYP27B1 CYP2B6 GAD2 GLUL GMPPA HSD11B1 HSD17B4 LIPA MICA PLA2G2A SGPL1 TM7SF2 UGT2B28	100507436 1555 1583 1584 1586 1589 1594 23274 2572 2752 29926 3290 3295 3988 5320 54490 7108 8879 929	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060188	jejunoileitis	FUT2 LYZ PLA2G1B PLA2G2A PLA2G6 PLB1	151056 2524 4069 5319 5320 8398	Homo sapiens (human)	DisGeNET
DOID:0111390	mucopolysaccharidosis Ih Aliases: Dysostosis multiplex syndrome Hurler disease MPS type 1H Hurler-Pfaundler syndrome L-iduronidase deficiency, Hurler type MPS1-H Mucopolysaccharidosis type I severe form dysostosis multiplex gargoylism	AGA ARSB CAT CTSA FUCA1 FUT1 GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT IDS IDUA MAN2B1 NAGLU NEU1 SGSH SUMF1	10020 138050 175 2517 2523 2720 2799 285362 2990 3423 3425 411 4125 4669 4758 5476 6448 79158 84572 847	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:0060270	pontocerebellar hypoplasia type 2D	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PCCA PCCB PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 5095 5096 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0111382	ischiocoxopodopatellar syndrome Aliases: SPS Scott-Taor syndrome congenital coxa vara, patella aplasia and tarsal synostosis coxo-podo-patellar syndrome coxopodipatellar syndrome ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension ischiopatellar dysplasia patella aplasia, coxa vara, and tarsal synostosis small patella syndrome	GAD2 PLA2G1B PLA2G2A PLA2G6	2572 5319 5320 8398	Homo sapiens (human)	DisGeNET
DOID:0050852	limb ischemia	CS PTGIS	1431 5740	Homo sapiens (human)	Alliance of Genome Resources
DOID:5520	head and neck squamous cell carcinoma Aliases: carcinoma of the head and neck squamous cell carcinoma of the head and neck squamous cell carcinomas of head and neck	ACACA ACACB ACHE ACOT7 ADH1B ADH1C ADH7 AKR1A1 AKR1C1 ALDH2 ALDH3A1 ALG3 ALOX15B ALOX5 ANXA5 APRT ASAH1 BST2 C1GALT1 CALR CANX CAT CBR1 CD33 CD44 CDH13 CEACAM6 CERS1 CERS6 CMAS COMT CSPG4 CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP2R1 DHCR24 DLAT ENO1 EXT1 EXTL3 FCGR3B FOLR2 FUT1 FUT4 GALC GALNS GGT1 GLB1 GPAA1 GPD1L GPI GPNMB GPX1 GPX3 GUSB HK2 HPGDS HPSE2 HPSE HSD17B12 HYAL1 IDH2 IDUA IGF2R IL18R1 IL1RAP ISYNA1 JMJD7-PLA2G4B KL LDHA LGALS1 LGALS3 LGALS9 LY6K ME1 MICA MMP17 MRC1 MUTYH NAMPT NANS NCAM1 NEIL1 NEU1 NSDHL NT5E NTNG1 OGG1 PARP1 PDHA1 PFKFB3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4B PLAUR PLCE1 PNP PRKAA2 PRNP PSMD10 PTEN PTGES PTGIS PTGS1 PTGS2 PYGM REG3G SCD SDC1 SELL SELP SHMT1 SHMT2 SIGLEC1 SIRT4 SIRT6 SLC17A5 SLC2A3 SLC2A4 SMPD1 SMUG1 SOAT1 SPTLC3 SULF1 SULT1E1 TALDO1 THEM4 TKTL1 TPI1 TYMP UGCG UGT1A1 UGT1A6 UGT1A7 UGT2B17 ULBP1	100137049 100507436 1012 10135 10195 10327 10457 10715 10855 11332 117145 120227 125 126 130120 131 1312 142 1464 1543 1544 1545 1555 1557 1559 1571 1573 1645 1718 1737 1890 2023 2131 2137 217 218 2215 22854 23171 23213 23409 2350 23583 240 247 2523 2526 253782 2581 2588 26503 2678 2720 27306 2821 2876 2878 2990 308 3099 31 32 3373 3418 3425 3482 353 3556 3939 3956 3958 3965 4199 427 43 4326 4360 4595 4680 4684 4758 4860 4907 4968 50814 51144 51196 51477 51548 5160 5209 5290 5291 5293 5294 5315 5329 54187 54577 54578 54658 54742 55304 5563 55907 5621 56913 5716 5728 5740 5742 5743 5837 60495 6319 6382 6402 6403 6470 6472 6515 6517 6609 6614 6646 6783 684 6888 7167 7357 7367 79661 80329 811 821 8277 847 8681 873 8733 8809 9365 945 9536 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
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:0080128	mitochondrial DNA depletion syndrome 9 Aliases: fatal infantile lactic acidosis	SUCLA2 SUCLG1	8802 8803	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0111260	phosphoribosylpyrophosphate synthetase superactivity Aliases: PRPP synthetase superactivity PRPS1 superactivity	PNP PRPS1	4860 5631	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3896	hidradenoma Aliases: Hidradenoma of skin Sweat gland adenoma Syringoadenoma	AMACR CD44 CEACAM5 CYP24A1 G6PD GALK1 GLB1 GPC3 HPSE ICAM1 LGALS3 LGALS9 MTAP NSDHL PARP1 PIK3CA PKD1 PKM PLA2G6 PLCB4 PTEN PTGS2 RECK SDHB SDHC SDHD SIRT6 STS VCAN	1048 10855 142 1462 1591 23600 2539 2584 2719 2720 3383 3958 3965 412 4507 50814 51548 5290 5310 5315 5332 5728 5743 6390 6391 6392 8398 8434 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:4441	dysgerminoma	CD14 CYP19A1 CYP27B1 OPCML PGD PIK3CA PTEN	1588 1594 4978 5226 5290 5728 929	Homo sapiens (human)	DisGeNET
DOID:0110064	amelogenesis imperfecta type 1H Aliases: AI1H amelogenesis imperfecta type IH	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0080288	spinocerebellar ataxia 46	PLD3	23646	Homo sapiens (human)	DisGeNET Alliance of Genome Resources

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