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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **6076 - 6100** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0110272	cataract 40 Aliases: CTRCT40 cataract 40 X-linked cataract 40 with or without microcornea	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS MMUT OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4594 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:0110234	cataract 4 multiple types Aliases: CTRCT4 cataract 4 multiple types with or without microcornea	AGK ALDH7A1 CPT1A CRYL1 CYP27A1 GALK1 GCNT2 GPC5 IDH1 INPP5K LGALS1 LSS OCRL PIK3CA PTEN SDHB SDHC SDHD SLC33A1 SORD	1374 1593 2262 2584 2651 3417 3956 4047 4952 501 51084 51763 5290 55750 5728 6390 6391 6392 6652 9197	Homo sapiens (human)
DOID:0110255	cataract 5 multiple types Aliases: CTRCT5	AGK ALDH7A1 B3GAT1 CEACAM5 COG4 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 ICAM1 INPP5K LSS OCRL PTEN SLC33A1 SORD	1048 1593 2262 25839 2584 2651 27087 3383 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:0080484	peroxisome biogenesis disorder 10A Aliases: peroxisome biogenesis disorder 10A (Zellweger)	AGA	175	Homo sapiens (human)
DOID:1639	skeletal tuberculosis Aliases: osteoarticular tuberculosis	AGA	175	Homo sapiens (human)
DOID:0111387	familial isolated hypoparathyroidism Aliases: FIH	AGA	175	Homo sapiens (human)
DOID:11371	functional diarrhea Aliases: functional diarrhoea	AGA	175	Homo sapiens (human)
DOID:2300	spondylolysis	AGA SLC26A2	175 1836	Homo sapiens (human)
DOID:8505	dermatitis herpetiformis Aliases: Dermatosis herpetiformis Duhring's disease	AGA ICAM1 SOAT1 TNF	175 3383 6646 7124	Homo sapiens (human)
DOID:0040099	livedoid vasculitis Aliases: livedoid vasculopathy	AGA FUCA1 NEU1 PTEN	175 2517 4758 5728	Homo sapiens (human)
DOID:9540	vascular skin disease	AGA FUCA1 NEU1 PLAUR PTEN TM7SF2	175 2517 4758 5329 5728 7108	Homo sapiens (human)
DOID:5338	gingival hypertrophy Aliases: hypertrophy of gingivae	AGA CYP2C9 GLB1 GUSB IDUA MAN2B1 MGAT2 PIGA PIGN PIGS SC5D SLC17A5	1559 175 23556 26503 2720 2990 3425 4125 4247 5277 6309 94005	Homo sapiens (human)
DOID:3086	gingival overgrowth Aliases: Gingival enlargement	AGA CYP2C9 DHCR24 GLB1 GUSB IDUA MAN2B1 MGAT2 PIGA PIGN PIGS SC5D SLC17A5	1559 1718 175 23556 26503 2720 2990 3425 4125 4247 5277 6309 94005	Homo sapiens (human)
DOID:11701	selective IgA deficiency disease Aliases: Immunoglobulin A deficiency Selective immunoglobulin A deficiency selective IgA immunodeficiency	AGA CLEC16A CYP21A2 FUT2 FUT3 MBL2 PTEN SDC1	1589 175 23274 2524 2525 4153 5728 6382	Homo sapiens (human)
DOID:0060025	immunoglobulin alpha deficiency Aliases: IgA deficiency gamma-A-globulin deficiency	AGA CLEC16A CYP21A2 FUT2 FUT3 MBL2 PTEN SDC1	1589 175 23274 2524 2525 4153 5728 6382	Homo sapiens (human)
DOID:0050461	aspartylglucosaminuria Aliases: aspartylglucosaminidase deficiency aspartylglycosaminuria glycosylasparaginase deficiency	AGA CHIT1 CTSA CYP21A2 FUCA1 GLB1 HPRT1 MAN2B1 NEU1	1118 1589 175 2517 2720 3251 4125 4758 5476	Homo sapiens (human)
DOID:14500	fucosidosis Aliases: A-fucosidase deficiency alpha fucosidase deficiency	AGA CHIT1 CTSA CYP21A2 FUCA1 GLB1 HPRT1 MAN2B1 NEU1	1118 1589 175 2517 2720 3251 4125 4758 5476	Homo sapiens (human)
DOID:2321	obsolete dyspepsia	AGA CD14 CHGA COMT CYP2C19 GGT1 PTGDS PTGS1 PTGS2 UGT1A9	1113 1312 1557 175 2678 54600 5730 5742 5743 929	Homo sapiens (human)
DOID:9164	achalasia Aliases: Lack of reflex relaxation of lower oesophageal sphincter achalasia of cardia achalasia of esophagus cardiospasm esophageal achalasia hypertensive lower esophageal sphincter	AGA CALR ECI1 FUT3 GMPPA	1632 175 2525 29926 811	Homo sapiens (human)
DOID:13186	megaesophagus	AGA CALR ECI1 FUT3 GMPPA	1632 175 2525 29926 811	Homo sapiens (human)
DOID:12802	mucopolysaccharidosis I Aliases: Hurler syndrome Hurler-Scheie syndrome Lipochondrodystrophy MPS I - Hurler syndrome Mucopolysaccharidosis, MPS-I Mucopolysaccharidosis, type 1 iduronidase deficiency disease	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)
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)
DOID:14268	sclerosing cholangitis Aliases: fibrosing cholangitis	AGA ARSA B3GAT1 CD14 CEACAM5 CEACAM7 CLEC16A DLAT FUT2 FUT3 GAL3ST2 ICAM1 IL18R1 IL1R1 INPP5A KLRK1 LSS MANBA MGLL MICA NCAM1 NEIL1 PIK3CD PLA2G10 PLA2G2A PLA2G2D PNPLA3 PTGES PTGS2 SDC1 SLC17A5 SMUG1 STS	100507436 1048 1087 11343 1737 175 22914 23274 23583 2524 2525 26279 26503 27087 3383 3554 3632 4047 410 412 4126 4684 5293 5320 5743 6382 64090 79661 80339 8399 8809 929 9536	Homo sapiens (human)
DOID:0060643	primary sclerosing cholangitis	AGA ARSA B3GAT1 CD14 CEACAM5 CEACAM7 CLEC16A DLAT FUT2 FUT3 GAL3ST2 ICAM1 IL18R1 IL1R1 INPP5A KLRK1 LSS MANBA MGLL MICA NCAM1 NEIL1 PIK3CD PLA2G10 PLA2G2A PLA2G2D PNPLA3 PTGES PTGS2 SDC1 SLC17A5 SMUG1 STS TNF	100507436 1048 1087 11343 1737 175 22914 23274 23583 2524 2525 26279 26503 27087 3383 3554 3632 4047 410 412 4126 4684 5293 5320 5743 6382 64090 7124 79661 80339 8399 8809 929 9536	Homo sapiens (human)
DOID:0060320	inguinal hernia	AGA ARSA ARSB ATP6V0A2 ATP6V1A B3GLCT COMT CYP19A1 DSE ELOVL4 GALNS GLB1 GNE GNPTAB GPC3 GUSB IDS IDUA INPP5E LFNG MAN2B1 NEU1 OCRL PAFAH1B1 PIGQ PIGY PLD1 PTDSS1 SLC26A2 SLC2A10 SMC3 SRD5A3 TGDS	10020 1312 145173 1588 175 1836 23483 23545 2588 2719 2720 2990 29940 3423 3425 3955 410 411 4125 4758 4952 5048 523 5337 56623 6785 79158 79644 81031 84992 9091 9126 9791	Homo sapiens (human)

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