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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 **2401 - 2425** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0050661	vitelliform macular dystrophy Aliases: Best disease Best macular dystrophy juvenile-onset vitelliform macular dystrophy	ALOX12 ALPP ATRNL1 PYGM RGN RPE	239 250 26033 5837 6120 9104	Homo sapiens (human)
DOID:11119	Gilles de la Tourette syndrome Aliases: Guinon's disease Psychogenic tics Tourette syndrome motor-verbal tic disorder	ALG9 CHAT CNTN6 COMT ENO2 GPC5 HEXD HK1 HPGDS IL1R1 LCT LYPD6 OGA PARP1 PARP9 PKM	10724 1103 130574 1312 142 2026 2262 27255 27306 284004 3098 3554 3938 5315 79796 83666	Homo sapiens (human)
DOID:0080564	congenital disorder of glycosylation Il Aliases: congenital disorder of glycosylation 1l	ALG9 ATP6V0A2	23545 79796	Homo sapiens (human)
DOID:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	ALG8 MAN1A1	4121 79053	Homo sapiens (human)
DOID:4976	elephantiasis	ALG8 GLA GUSB INPPL1 MPI NAGA PIK3CA PMM2 PTEN SLC35D1	23169 2717 2990 3636 4351 4668 5290 5373 5728 79053	Homo sapiens (human)
DOID:9621	non-congenital cyst of kidney	ALG8 CEL FH GPC3 HSD17B1 HSD17B4 INPP5E PIGT PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PMM2 PRKCSH PTEN UGCG	1056 2271 2719 3292 3295 51604 5290 5291 5293 5294 5310 5311 5373 5589 56623 5728 7357 79053	Homo sapiens (human)
DOID:10611	protein-losing enteropathy Aliases: Enteropathy, exudative Exudative enteropathy	ALG8 CD55 COG8 DGAT1 MPI PIK3C2A PTEN	1604 4351 5286 5728 79053 84342 8694	Homo sapiens (human)
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	ALG8 ALG9 GANAB LRP5 PKD1 PKD2 PRKCSH UCP2	23193 4041 5310 5311 5589 7351 79053 79796	Homo sapiens (human)
DOID:1681	heart septal defect Aliases: Cardiac septal defects Congenital septal defect of heart septal defect	ALG8 ALG9 ATP6AP2 B3GALT6 B3GLCT DAG1 NSDHL PIGN	10159 126792 145173 1605 23556 50814 79053 79796	Homo sapiens (human)
DOID:0070119	Meckel syndrome 5 Aliases: MKS5 Meckel-Gruber syndrome, type 5	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:0070116	Meckel syndrome 2 Aliases: MKS2 Meckel-Gruber syndrome, type 2	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:0070118	Meckel syndrome 4 Aliases: MKS4 Meckel-Gruber syndrome, type 4	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:0070120	Meckel syndrome 6 Aliases: MKS6 Meckel-Gruber syndrome, type 6	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:0070117	Meckel syndrome 3 Aliases: MKS3 Meckel-Gruber syndrome, type 3	ALG8 ALG9 ARF4 PGD PKD1 PKD2 UMOD	378 5226 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:2975	cystic kidney disease Aliases: renal Cyst	ALG8 ALG9 ARF4 CEL FH GPC3 HSD17B1 HSD17B4 INPP5E PIGT PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PMM2 POMT2 PRKCSH PTEN UGCG UMOD	1056 2271 2719 29954 3292 3295 378 51604 5290 5291 5293 5294 5310 5311 5373 5589 56623 5728 7357 7369 79053 79796	Homo sapiens (human)
DOID:0080555	congenital disorder of glycosylation Ic Aliases: congenital disorder of glycosylation 1c	ALG6	29929	Homo sapiens (human)
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	ALG6 IGF2 MPI OGA PMM1 PMM2	10724 29929 3481 4351 5372 5373	Homo sapiens (human)
DOID:0080322	polycystic kidney disease	ALG5 GANAB PKD1 PKD2 PLA2G4A PTGS1 PTGS2 XYLT2	23193 29880 5310 5311 5321 5742 5743 64132	Homo sapiens (human)
DOID:0080558	congenital disorder of glycosylation If Aliases: congenital disorder of glycosylation 1f	ALG3 MPDU1	10195 9526	Homo sapiens (human)
DOID:0080556	congenital disorder of glycosylation Id Aliases: congenital disorder of glycosylation 1d	ALG3 MPDU1 PMM2	10195 5373 9526	Homo sapiens (human)
DOID:0080087	nonsyndromic congenital nail disorder 9	ALG3 DPM1 EXT2 GPC3 PLOD3	10195 2132 2719 8813 8985	Homo sapiens (human)
DOID:0110669	congenital myasthenic syndrome 14 Aliases: CMS14 CMSTA3 congenital myasthenic syndrome 14, with tubular aggregates congenital myasthenic syndrome with tubular aggregates 3	ALG2	85365	Homo sapiens (human)
DOID:0080561	congenital disorder of glycosylation Ii Aliases: congenital disorder of glycosylation 1i	ALG2 COG1 COG4 COG8 MAN1B1 SLC39A8	11253 25839 64116 84342 85365 9382	Homo sapiens (human)
DOID:0050571	congenital disorder of glycosylation type II	ALG2 ATP6AP2 COG1 COG3 COG4 COG5 COG6 COG7 COG8 DHCR7 DLD EDEM3 FUT4 GALNT2 MGAT2 MOGS SLC35A1 SLC35A2 SLC35C1 SLC37A4 TMEM165	10159 10466 10559 1717 1738 2526 2542 25839 2590 4247 55343 55858 57511 7355 7841 80267 83548 84342 85365 91949 9382	Homo sapiens (human)
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	ALG14	199857	Homo sapiens (human)

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