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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 **7401 - 7425** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:5608	dental pulp calcification Aliases: pulp calcification pulp calcifications pulpal calcifications	GALNT3	2591	Homo sapiens (human)	DisGeNET
DOID:3876	colonic pseudo-obstruction Aliases: primary chronic pseudo-obstruction of colon	ACHE	43	Homo sapiens (human)	DisGeNET
DOID:14723	beta-ketothiolase deficiency Aliases: 2-methyl-3-hydroxybutyricacidemia 3-ketothiolase deficiency 3-oxothiolase deficiency Mitochondrial acetoacetyl-CoA Thiolase deficiency alpha-methylacetoaceticaciduria peroxisomal thiolase deficiency	ACAA1 ACAA2 ACAT1 ACAT2 HADHB HSD17B4 OXCT1	10449 30 3032 3295 38 39 5019	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:11339	pneumocystosis Aliases: Pneumocystis carinii pneumonia Pneumocystis jirovecii pneumonia Pneumocystis pneumonia Pneumocystosis pneumonia pulmonary pneumocystosis	ACAT1 ATP6AP2 CEL CLEC6A CLEC7A ENPP1 G6PD GAD1 GPX1 MRC1 PARP9 SFTPA1 SFTPA2 SFTPD SLC27A5 STS UAP1 XYLT2	10159 1056 10998 2539 2571 2876 38 412 4360 5167 64132 6441 64581 653509 6675 729238 83666 93978	Homo sapiens (human)	DisGeNET
DOID:9499	disseminated eosinophilic collagen disease	ETNK1	55500	Homo sapiens (human)	DisGeNET
DOID:0060000	infective endocarditis	ACE ARSD CHPT1 ENO1 GPI ICAM1 MANEA MTM1 PCYT1A SMUG1 TLR6	10333 1636 2023 23583 2821 3383 414 4534 5130 56994 79694	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060448	Fleck corneal dystrophy Aliases: FCD Francois-Neetens speckled corneal dystrophy	FCN2 FOLR2 GCDH PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE SMUG1 UGT1A4	200576 2220 2350 23583 2639 5290 5291 5293 5294 54657	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060455	Thiel-Behnke corneal dystrophy Aliases: TBCD Waardenburg-Jonker corneal dystrophy anterior limiting membrane dystrophy type II corneal dystrophy honeycomb-shaped corneal dystrophy of Bowman layer type II	ACOT8	10005	Homo sapiens (human)	DisGeNET
DOID:0110826	Usher syndrome type 1 Aliases: US1 USH1	ALDH7A1 RPE STS	412 501 6120	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110841	Usher syndrome type 3A Aliases: USH3A Usher syndrome type IIIA	ARSG	22901	Homo sapiens (human)	DisGeNET
DOID:0080200	bilateral renal aplasia	DHCR24 DHCR7 FREM1 GAS1 HS6ST1 NSDHL	158326 1717 1718 2619 50814 9394	Homo sapiens (human)	DisGeNET
DOID:14766	renal agenesis Aliases: hereditary renal aplasia hereditary urogenital adysplasia renal adysplasia renal aplasia	FKRP FKTN FREM1 GFRA1 GPC3 LARGE1 PIGN PIGP PIGQ POMT1 POMT2 SLC2A4	10585 158326 2218 23556 2674 2719 29954 51227 6517 79147 9091 9215	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:14174	central neurocytoma Aliases: Neurolipocytoma	IDH1	3417	Homo sapiens (human)	DisGeNET
DOID:6458	cerebellar liponeurocytoma Aliases: Lipomatous Medulloblastoma	IDH1	3417	Homo sapiens (human)	DisGeNET
DOID:8943	lattice corneal dystrophy Aliases: familial amyloid neuropathy, Finnish type	GCDH	2639	Homo sapiens (human)	DisGeNET
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)	DisGeNET DisGeNET
DOID:0070122	Meckel syndrome 8 Aliases: MKS8 Meckel-Gruber syndrome, type 8	ACE ALG8 ALG9 ARF4 HJV PKD1 PKD2 UMOD	148738 1636 378 5310 5311 7369 79053 79796	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0070115	Meckel syndrome 1 Aliases: MKS1 Meckel-Gruber syndrome, type 1	ALDH1A3 ALG8 ALG9 ARF4 INPP5E PKD1 PKD2 PTGDS UMOD	220 378 5310 5311 56623 5730 7369 79053 79796	Homo sapiens (human)	DisGeNET DisGeNET
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)	DisGeNET
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)	DisGeNET
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)	DisGeNET
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)	DisGeNET
DOID:5826	breast lymphoma Aliases: Lymphoma of the breast lymphoma of breast malignant lymphoma of breast	HPSE SMUG1	10855 23583	Homo sapiens (human)	DisGeNET
DOID:13812	adhesions of uterus Aliases: Band of uterus Intrauterine adhesions Intrauterine synechiae	SDC1	6382	Homo sapiens (human)	DisGeNET
DOID:0070210	hereditary lymphedema IA Aliases: LMPH1A	AKR1B1 NCAM1 PTEN SMUG1	231 23583 4684 5728	Homo sapiens (human)	DisGeNET

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