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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	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **7076 - 7100** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0080430	developmental and epileptic encephalopathy 65 Aliases: DEE65 early infantile epileptic encephalopathy 65	CYFIP2	26999	Homo sapiens (human)	Alliance of Genome Resources
DOID:2752	glycogen storage disease II Aliases: Generalized glycogenosis Glycogen storage disease 2 Glycogen storage disease, type II Glycogenosis, type 2 Lysosomal alpha-1,4-glucosidase deficiency Pompe's disease acid maltase deficiency deficiency of glucoamylase deficiency of maltase glycogen storage disease type II	GAA	2548	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080153	medium chain acyl-CoA dehydrogenase deficiency	ACADM	34	Homo sapiens (human)	Alliance of Genome Resources
DOID:10456	tonsillitis Aliases: Throat infection - tonsillitis chronic tonsillitis	IGFBP3	3486	Homo sapiens (human)	Alliance of Genome Resources
DOID:615	leukopenia Aliases: Leucopenia	CXCR4 PLAT	5327 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:13580	cholestasis Aliases: Obstruction of bile duct bile occlusion	ABCB11 ABCB1 ABCB4 ABCC2 ABCC3 ABCC4 ABCG5 ABCG8 ACE ADAMTS13 ADH5 ALB APOC3 APOE BMAL1 CAT CD14 CD44 CFTR CLOCK COL1A1 CP CYP3A5 CYP7A1 ENG G6PD HP HPR IL1A IL4 LAMP2 MMP2 NOS3 PDGFB PRKAA1 PYGM SLC10A1 SLCO1A2 SLCO1B1 SLCO1B3 TIMP1 TJP1 UTP4 VPS33B	10257 10599 1080 11093 1244 1277 128 1356 1577 1581 1636 2022 213 2539 26276 28234 3240 3250 345 348 3552 3565 3920 406 4313 4846 5155 5243 5244 5562 5837 64240 64241 6554 6579 7076 7082 847 84916 8647 8714 929 9575 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:12583	velocardiofacial syndrome Aliases: Shprintzen syndrome VCF-Velocardiofacial syndrome	CHRD CRKL EDNRA ESS2 PRICKLE1 UFD1	1399 144165 1909 7353 8220 8646	Homo sapiens (human)	Alliance of Genome Resources
DOID:3227	tracheal stenosis Aliases: Stenosis of trachea	DRD1 TGFB1	1812 7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111927	spermatogenic failure 37 Aliases: SPGF37	TTC21A	199223	Homo sapiens (human)	Alliance of Genome Resources
DOID:1657	ventricular septal defect Aliases: Interventricular septal defect Ventricular septal abnormality	GATA4 IGF2 MMP9 NFATC1 SALL4	2626 3481 4318 4772 57167	Homo sapiens (human)	Alliance of Genome Resources
DOID:3191	nemaline myopathy Aliases: Nemaline body disease nemaline rod myopathy rod body disease rod myopathy	ACTB ACTC1 NEB	4703 60 70	Homo sapiens (human)	Alliance of Genome Resources
DOID:8564	lip cancer Aliases: malignant neoplasm of commissure of lip malignant neoplasm of external Lip, not specified as upper or lower malignant neoplasm of labial commissure of lip malignant neoplasm of lip malignant neoplasm of lip, external malignant neoplasm of lip, inner aspect malignant neoplasm of lip, vermilion border malignant neoplasm of lower lip, buccal aspect malignant neoplasm of lower lip, inner aspect malignant neoplasm of lower lip, mucosa malignant neoplasm of lower lip, oral aspect malignant neoplasm of oral aspect of lip, not specified whether upper or lower malignant neoplasm of other sites of lip malignant neoplasm of vermilion border of lip malignant tumor of commissure of lip malignant tumor of labial mucosa malignant tumor of lip malignant tumor of lower labial mucosa malignant tumor of the Lip malignant tumour of labial commissure malignant tumour of lip	IL10	3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112149	terminal osseous dysplasia Aliases: ODPD ODPF syndrome TOD TODPD digital osseous dysplasia with facial pigmentary defects and multiple frenula terminal osseous dysplasia-pigmentary defects syndrome	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060874	isolated growth hormone deficiency type IB Aliases: IGHD IB congenital IGHD type IB congenital isolated GH deficiency type IB congenital isolated growth hormone deficiency type IB dwarfism of Sindh	GHRHR	2692	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080722	Kenny-Caffey syndrome type 1	TBCE	6905	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060674	catecholaminergic polymorphic ventricular tachycardia	TRDN	10345	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050941	spastic ataxia 2	KIF1C	10749	Homo sapiens (human)	Alliance of Genome Resources
DOID:11650	bronchopulmonary dysplasia Aliases: Bronchopulmonary dysplasia of newborn Chronic lung disease of prematurity Neonatal chronic lung disease Perinatal bronchopulmonary dysplasia Respiratory insufficiency neonatal chronic respiratory disease	BAX CASP9 CAT CD209 CHI3L1 DAG1 EDN1 EPAS1 FLT1 HIF1A IL1RN MBL2 MIF MUC1 SERPINE1 SFTPA1 SFTPB SFTPD TNF TP53	1116 1605 1906 2034 2321 30835 3091 3557 4153 4282 4582 5054 581 6439 6441 653509 7124 7157 842 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110703	hypotrichosis 6 Aliases: Hypotrichosis, Localized, Autosomal Recessive 1 Hypt6 Lah1 Monilethrix-like hypotrichosis autosomal recessive localized hypotrichosis	DSG4	147409	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050871	fibroma	ANTXR2	118429	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070251	X-linked Emery-Dreifuss muscular dystrophy 6 Aliases: EDMD6 Emery-Dreifuss muscular dystrophy 6, X-linked XMPMA myopathy, X-linked, with postural muscle atrophy	FHL1	2273	Homo sapiens (human)	Alliance of Genome Resources
DOID:14213	hypophosphatasia Aliases: deficiency of alkaline phosphatase	ALPL	249	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081215	autosomal recessive intellectual developmental disorder 52	LMAN2L	81562	Homo sapiens (human)	Alliance of Genome Resources
DOID:8692	myeloid leukemia Aliases: Non-Lymphocytic Leukemia leukaemia myelogenous leukemia myelogenous myeloid granulocytic leukaemia myeloid granulocytic leukemia myeloid leukaemia	CSF3 FGFR1 GATA2 IFNG IGFBP3 MN1 MPL NSD3 PDGFRA PECAM1 SNCA UGT1A1	1440 2260 2624 3458 3486 4330 4352 5156 5175 54658 54904 6622	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060894	early-onset Parkinson's disease Aliases: early-onset Parkinson disease	PARK7 PINK1 SYNJ1 SYNJ2	11315 65018 8867 8871	Homo sapiens (human)	Alliance of Genome Resources

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