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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 **1976 - 2000** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:14247	chronic purulent otitis media Aliases: chronic suppurative otitis media	CAT	847	Homo sapiens (human)	DisGeNET
DOID:5723	optic atrophy Aliases: atrophy of optic disc	ACO2 ACOX1 AGXT ALG13 ALG3 ARSA ATP6V1A B3GALNT2 B3GLCT B4GAT1 CA4 CHSY1 COMT CRPPA CYP1B1 CYP2B6 CYP7B1 DAG1 DGKG EBP ECHS1 ENO2 FCSK FH FKRP FKTN GALC GLA GLB1 GMPPA GMPPB GPAA1 HGSNAT HSD17B6 IDH3A IDH3B INPP5K L2HGDH LARGE1 MAG MCAT MECR MMUT MOGS MPDU1 NAGA NGLY1 PCK1 PDHA1 PDHX PIGQ PIK3CA PKLR PLA2G6 PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPT1 PRKAA2 PRPS1 PSAP RPIA RXYLT1 SDHA SDHD SLC5A1 SRD5A3 ST3GAL5 STT3B SUMF1 SYNJ1 TMED9 TMTC3 TREH VCAN	10195 10329 10585 10682 10908 11041 11181 1312 138050 145173 1462 148789 1545 1555 160418 1605 1608 189 1892 197258 201595 2026 2218 2271 22856 22934 2581 2717 2720 27349 285362 29925 29926 29954 3419 3420 4099 410 4594 4668 50 51 5105 51102 5160 51763 523 5290 5313 54732 5538 55624 5563 55768 5631 5660 6389 6392 6523 729920 762 7841 79147 79644 79868 79944 8050 8398 84197 84892 8630 8733 8867 8869 9091 9215 9420 9526	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:10481	diaphragm disease	CYP2C9 GAA TPI1	1559 2548 7167	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:12270	coloboma Aliases: coloboma of eye coloboma of macula congenital ocular coloboma	ALDH1A3 ALDH7A1 ALG2 ALG3 ATP6V1A B3GALNT2 B3GLCT B4GALT7 B4GAT1 CRPPA CYP1B1 DAG1 DHCR7 FKRP FKTN GAS1 GMPPA GMPPB INPP5E LARGE1 PAFAH1B1 PIGL PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRPS1 RXYLT1 SRD5A3	10195 10329 10585 10908 11041 11285 145173 148789 1545 1605 1717 220 2218 2619 29925 29926 29954 501 5048 523 55624 5631 56623 729920 79147 79644 84197 84892 85365 9215 9487	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:9201	lichen planus Aliases: Lichen, ruber planus lichen ruber planus	CAT CHI3L1 PTGS2 VCAM1	1116 5743 7412 847	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3320	Tay-Sachs disease Aliases: GM2 gangliosidosis, type 1 hexosaminidase A deficiency	ARSA GBA1 GM2A HEXA HEXB HEXD NEU3 OGA	10724 10825 2629 2760 284004 3073 3074 410	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0070330	multiple mitochondrial dysfunctions syndrome Aliases: fatal multiple mitochondrial dysfunction syndrome	GCSH	2653	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050741	alcohol dependence Aliases: alcoholism	ABAT ABO ACE ACSS2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH6 ADH7 AKR1A1 AKR1C3 AKR1C4 ALDH1B1 ALDH2 ALDH3B2 APRT ARSA CAT CDH13 CNTN4 CNTN6 COMT CYP19A1 CYP1A1 CYP2B6 CYP2E1 CYP3A5 ECHS1 FOLR1 GAD1 GAD2 GAPDH GGT1 GLUL GM2A GUSB HPGDS HSD11B2 HSPG2 HTR2A IL18R1 IL1R1 IMPA1 KL LEP LYZ MGLL NCAM1 NPL PARP9 PC PIK3CA PIK3CB PIK3CD PIK3CG PLCD3 PNPLA3 PPAT PRSS21 SLC17A5 SLC39A8 SMPD1 SRD5A1 SRD5A2 ST8SIA4 TIPARP TKT TMEM260 UMOD	1012 10327 10942 1109 113026 11343 124 125 126 127 128 130 131 1312 152330 1543 1555 1571 1577 1588 1636 18 1892 217 219 222 2348 2571 2572 2597 25976 26503 2678 27255 27306 2752 2760 28 2990 3291 3339 3356 353 3554 3612 3952 4069 410 4684 5091 5290 5291 5293 5294 5471 54916 55902 64116 6609 6715 6716 7086 7369 7903 80339 80896 83666 847 8644 8809 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050466	Loeys-Dietz syndrome	IDUA SLC2A10	3425 81031	Homo sapiens (human)	DisGeNET
DOID:0111252	vestibular schwannomatosis Aliases: ACN BANF NF2 NF2-related schwannomatosis SWN3 SWNV acoustic neurofibromatosis bilateral acoustic neurinoma bilateral acoustic neurofibromatosis bilateral acoustic schwannomas central neurofibromatosis familial acoustic neuromas neurofibromatosis 2 neurofibromatosis type II schwannomatosis 3	CAT CD44 CYP19A1 CYP2E1 FASN MTAP PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGDS PTGS2 SIRT2 TMEM165	1571 1588 2194 22933 4507 5290 5291 5293 5294 55858 5728 5730 5743 847 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:6263	inflammatory breast carcinoma Aliases: Inflammatory carcinoma of breast Mastitis carcinomatosa	B3GAT1 CD44 CTSA CYP1B1 DHCR24 GLO1 GPX3 HAGH IDH2 INPP4B PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SDC1 SELE	142 1545 1718 27087 2739 2878 3029 3418 5290 5291 5293 5294 5476 5728 5743 6382 6401 8821 960	Homo sapiens (human)	DisGeNET
DOID:1003	pelvic inflammatory disease Aliases: PID	ABO CHI3L1 CTSA FCGR3B MAN1B1 PIK3CD	1116 11253 2215 28 5293 5476	Homo sapiens (human)	DisGeNET
DOID:2978	carbohydrate metabolic disorder Aliases: disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism	ACAT1 MPI OXCT1 SLC2A1 TALDO1 TPI1	38 4351 5019 6513 6888 7167	Homo sapiens (human)	Alliance of Genome Resources
DOID:0001816	angiosarcoma Aliases: hemangiosarcoma	DCN ICAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PTEN SMUG1 TP53	1634 23583 3383 5290 5291 5293 5294 5335 5728 7157	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:11372	megacolon Aliases: Dilatation of colon	SMC3	9126	Homo sapiens (human)	DisGeNET
DOID:5679	retinal disease	ACE AGXT AKR1B1 ALDH2 ALDH3A2 ALOX12 B3GAT1 CALR CAT CD44 CD74 CEL CEPT1 CHAT CHI3L1 CHPT1 CTNS CYP1B1 CYP2C19 CYP2C9 DCN DDOST ENPP1 GAD2 GCK GLO1 GLUL GM2A GNPTAB GUSB HADHA HEXB HPSE ICAM1 IDUA ISYNA1 KL LGALS1 NEU1 NYX PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PLA2G6 PLA2G7 PLCB4 PLD2 PNPLA2 POMGNT1 PTGS2 RPE SELE SIRT4 SPHK2 ST3GAL4 STS SULT1E1 TM7SF2 VCAM1	10390 1056 10855 1103 1116 142 1497 1545 1557 1559 1634 1636 1650 189 217 224 231 23409 23761 239 2572 2645 27087 2739 2752 2760 2990 3030 3074 3383 3425 3956 412 4758 51477 5167 5290 5291 5293 5294 5332 5338 55624 56848 56994 57104 5743 60506 6120 6401 6484 6783 7108 7412 79158 7941 811 8398 847 9365 960 972	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1475	lymphangioma Aliases: Congenital lymphangioma benign lymphangioma	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 MAG PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHD	10082 10908 2619 29071 3294 3417 3418 3482 4099 5281 5290 5291 5293 5294 5310 5476 57104 5728 6392 811 8809 8813 929	Homo sapiens (human)	DisGeNET DisGeNET
DOID:11042	Felty's syndrome Aliases: Felty syndrome Rheumatoid arthritis with splenoadenomegaly and leukopenia	B3GAT1	27087	Homo sapiens (human)	DisGeNET
DOID:5078	ganglioglioma Aliases: CNS ganglioglioma adult ganglioglioma childhood ganglioglioma	FCN2 IDH1 IDH2 PIK3CA PIK3CD PIK3CG PTEN	2220 3417 3418 5290 5293 5294 5728	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0080572	congenital disorder of glycosylation Iw Aliases: congenital disorder of glycosylation 1w	STT3A STT3B	201595 3703	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110187	Charcot-Marie-Tooth disease type 4K Aliases: CMT4K SURF1-related CMT4 SURF1-related Charcot-Marie-Tooth disease type 4 SURF1-related severe demyelinating Charcot-Marie-Tooth disease autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060074	ductal carcinoma in situ	AKR1C3 PTGES PTGS2 TFF1 TP53 TYMP	1890 5743 7031 7157 8644 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080109	infantile myofibromatosis Aliases: lipofibromatosis	ACAN SMUG1	176 23583	Homo sapiens (human)	DisGeNET
DOID:3596	placental site trophoblastic tumor Aliases: Placental-Site Gestational Trophoblastic neoplasm placental site trophoblastic tumour	GPC3	2719	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080283	developmental and epileptic encephalopathy 55 Aliases: DEE55 GPIBD14 early infantile epileptic encephalopathy 55 glycosylphosphatidylinositol biosynthesis defect 14	PIGP	51227	Homo sapiens (human)	DisGeNET Alliance of Genome Resources

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