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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 **1851 - 1875** of **4621** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0111353	arthrogryposis, renal dysfunction, and cholestasis 1 Aliases: ARCS1	ALPL GGT1	249 2678	Homo sapiens (human)
DOID:0111359	large congenital melanocytic nevus Aliases: Congenital pigmented nevus GMN Giant congenital melanocytic nevus Giant pigmented hairy nevus LCMN	PTGDS	5730	Homo sapiens (human)
DOID:0111368	cholesterol-ester transfer protein deficiency Aliases: CEPT deficiency familial hyperalphalipoproteinemia	GALNT2 LCAT LIPC LIPG LPL	2590 3931 3990 4023 9388	Homo sapiens (human)
DOID:0111369	hyperalphalipoproteinemia 1 Aliases: HALP1	GALNT2 LCAT LIPC LIPG LPL	2590 3931 3990 4023 9388	Homo sapiens (human)
DOID:0111375	fetal akinesia deformation sequence syndrome Aliases: FADS Pena-Shokeir syndrome type 1 arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome fetal akinesia sequence foetal akinesia deformation sequence syndrome foetal akinesia sequence	AGRN CNTN1 DPAGT1 GBA1 GBE1 PDHA1 PIGS	1272 1798 2629 2632 375790 5160 94005	Homo sapiens (human)
DOID:0111377	fetal akinesia deformation sequence syndrome 1 Aliases: FADS1	AGRN CNTN1 DPAGT1 GBA1 GBE1 PDHA1 PIGS	1272 1798 2629 2632 375790 5160 94005	Homo sapiens (human)
DOID:0111380	solitary median maxillary central incisor Aliases: SMMCI fused incisors single central maxillary incisor single median maxillary central incisor single upper central incisor	GAS1	2619	Homo sapiens (human)
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)
DOID:0111385	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 Aliases: IBMPFD1 MSP1 multisystem proteinopathy 1	GNE MASP1	10020 5648	Homo sapiens (human)
DOID:0111387	familial isolated hypoparathyroidism Aliases: FIH	AGA	175	Homo sapiens (human)
DOID:0111389	mucopolysaccharidosis Ih/s Aliases: MPS1H/S MPSIH/S Mucopolysaccharidosis type 1H/S	IDUA	3425	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:0111391	mucopolysaccharidosis IVA Aliases: GALNS deficiency MPS IVA MPS4A Morquio A disease Morquio syndrome A	APRT ARSB GALNS GLB1 IDS IDUA NAGLU ST3GAL1 ST3GAL2 ST3GAL4 SUMF1	2588 2720 285362 3423 3425 353 411 4669 6482 6483 6484	Homo sapiens (human)
DOID:0111392	mucopolysaccharidosis type IVB Aliases: MPS IVB MPS4B Morquio disease type B Morquio syndrome B beta-D-galactosidase deficiency mucopolysaccharidosis type IVB (Morquio)	CTSA GALNS GLB1 IDUA NEU1 OGA	10724 2588 2720 3425 4758 5476	Homo sapiens (human)
DOID:0111393	mucopolysaccharidosis type IIIC Aliases: Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency HGSNAT deficiency Heparan-alpha-glucosaminide N-acetyltransferase deficiency MPS3C MPSIIIC Mucopolysaccharidosis type 3C Sanfilippo syndrome type C mucopolysaccharidosis type IIIC (Sanfilippo C)	EXTL2 EXTL3 GNS HGSNAT NAGLU SGSH	138050 2135 2137 2799 4669 6448	Homo sapiens (human)
DOID:0111394	mucopolysaccharidosis type IIIB Aliases: MPS3B MPSIIIB Mucopoly-saccharidosis type 3B Mucopolysaccharidosis type 3B N-acetyl-alpha-glucosaminidase deficiency NAGLU deficiency Sanfilippo syndrome type B mucopolysaccharidosis type IIIB (Sanfilippo B)	GNS HGSNAT IDUA NAGLU NAGPA SGSH	138050 2799 3425 4669 51172 6448	Homo sapiens (human)
DOID:0111395	mucopolysaccharidosis type IIIA Aliases: MPS3A MPSIIIA Sanfilippo syndrome type A heparan sulfamidase deficiency mucopolysaccharidosis III-A mucopolysaccharidosis type 3A mucopolysaccharidosis type IIIA (Sanfilippo A)	ARSB CHAT EXT1 EXT2 EXTL2 EXTL3 GNS HGSNAT IDS IDUA NAGLU OGA SGSH SUMF1	10724 1103 138050 2131 2132 2135 2137 2799 285362 3423 3425 411 4669 6448	Homo sapiens (human)
DOID:0111401	congenital dyserythropoietic anemia type II Aliases: CDA II CDA type 2 CDA type II CDAN2 Congenital dyserythropoietic anaemia type 2 Congenital dyserythropoietic anemia type 2 Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) SEC23B-CDG congenital dyserythropoietic anaemia type II	CD44 G6PD LMAN1 MAN2A1 MCFD2 MGAT2	2539 3998 4124 4247 90411 960	Homo sapiens (human)
DOID:0111402	mucopolysaccharidosis type IIID Aliases: GNS deficiency MPS IIID MPS3D Mucopolysaccharidosis type 3D N-acetylglucosamine-6-sulfatase deficiency Sanfilippo syndrome D Sanfilippo syndrome type D	GNS HGSNAT NAGLU SGSH	138050 2799 4669 6448	Homo sapiens (human)
DOID:0111405	Fraser syndrome 1 Aliases: FRASRS1	FREM1 NT5E	158326 4907	Homo sapiens (human)
DOID:0111411	exudative vitreoretinopathy 4 Aliases: EVR4	LRP5	4041	Homo sapiens (human)
DOID:0111412	exudative vitreoretinopathy 1 Aliases: EVR1	ACE CAT EPHX2 FCN2 HPSE ICAM1 LGALS1 MCAT PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PSMD10 TM7SF2 TMED5	10855 1636 2053 2220 27349 3383 3956 50999 5290 5291 5293 5294 57104 5716 7108 847	Homo sapiens (human)
DOID:0111414	trichohepatoenteric syndrome Aliases: SD/THE Syndromic diarrhea/Tricho-hepato-enteric syndrome THES Tricho-hepato-enteric syndrome phenotypic diarrhea syndromic diarrhea	ACE AGPAT2 B3GLCT B4GALT7 BCKDHA CALR CBR1 CHGA CHST3 CNTN3 CNTN4 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP2B6 DLD FH GALT GBA2 HPSE2 HSD11B2 IDS LPIN2 LPL MAG MRC1 MUTYH NDUFAB1 OCRL PAFAH1B1 PIGA PIK3CA PRNP PTEN PTGS2 SDHD SLC33A1 SLC35A2 SMC3 ST3GAL5 STS SUCLA2 TECTA TKT TNKS UGT1A1 XYLT2	10555 1113 11285 145173 152330 1555 1583 1584 1585 1586 1588 1589 1636 1738 2271 2592 3291 3423 4023 4099 412 4360 4595 4706 4952 5048 5067 5277 5290 54658 5621 5728 5743 57704 593 60495 6392 64132 7007 7086 7355 811 8658 873 8803 8869 9126 9197 9469 9663	Homo sapiens (human)
DOID:0111415	trichohepatoenteric syndrome 1 Aliases: THES1	ACE AGK AGPAT2 B3GLCT B4GALT7 BCKDHA CALR CBR1 CHGA CHST3 CNTN3 CNTN4 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP2B6 DLD FH GALT GBA2 HPSE2 HSD11B2 IDS LPIN2 LPL MAG MRC1 MUTYH NDUFAB1 OCRL PAFAH1B1 PIGA PIK3CA PRNP PTEN PTGS2 SDHD SLC33A1 SLC35A2 SMC3 ST3GAL5 STS SUCLA2 TECTA TKT TNKS UGT1A1 XYLT2	10555 1113 11285 145173 152330 1555 1583 1584 1585 1586 1588 1589 1636 1738 2271 2592 3291 3423 4023 4099 412 4360 4595 4706 4952 5048 5067 5277 5290 54658 55750 5621 5728 5743 57704 593 60495 6392 64132 7007 7086 7355 811 8658 873 8803 8869 9126 9197 9469 9663	Homo sapiens (human)
DOID:0111416	trichohepatoenteric syndrome 2 Aliases: THES2	CYP21A2	1589	Homo sapiens (human)

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