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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **51 - 75** of **4115** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0070370	restrictive dermopathy 2	LMNA	4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080985	syndromic X-linked intellectual disorder Lujan-Fryns-type	MED12	9968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112223	developmental and epileptic encephalopathy 89 Aliases: DEE89 early infantile epileptic encephalopathy 89	GAD1	2571	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111816	syndactyly type 1 Aliases: SDTY1 chromosome 2q35 duplication syndrome syndactyly, type 1, with or without craniosynostosis	IHH	3549	Homo sapiens (human)	Alliance of Genome Resources
DOID:3324	mood disorder Aliases: episodic mood disorder	AVPR1B	553	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070120	Meckel syndrome 6 Aliases: MKS6 Meckel-Gruber syndrome, type 6	CC2D2A	57545	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112140	retinitis pigmentosa 83 Aliases: RP83	ARL3	403	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060740	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Aliases: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type vitamin B12-unresponsive methylmalonic aciduria	MMUT	4594	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060286	combined oxidative phosphorylation deficiency	TEFM	79736	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110749	type 1 diabetes mellitus 10 Aliases: IDDM10 Insulin-Dependent Diabetes Mellitus 10	IL2RA	3559	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060161	Kennedy's disease Aliases: Kennedy disease SBMA Spinobulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-linked Spinal and Bulbar Muscular Atrophy spinal bulbar muscular atrophy	AR	367	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112343	hereditary spastic paraplegia 82 Aliases: SPG82 spastic paraplegia 82 autosomal recessive	PCYT2	5833	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070068	autosomal dominant intellectual developmental disorder 38 Aliases: MRD38 PRELDS autosomal dominant mental retardation 38 autosomal dominant non-syndromic intellectual disability 38 psychomotor retardation, epilepsy, and language disability syndrome	EEF1A2	1917	Homo sapiens (human)	Alliance of Genome Resources
DOID:11512	Budd-Chiari syndrome Aliases: hepatic vein thrombosis	F5	2153	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060550	ablepharon macrostomia syndrome	TWIST2	117581	Homo sapiens (human)	Alliance of Genome Resources
DOID:2219	Glanzmann's thrombasthenia Aliases: BDPLT2 Glanzmann thrombasthenia Glycoprotein IIb/IIIa defect Thrombocytasthenia deficiency of GP IIb-IIIa complex deficiency of glycoprotein complex IIb-IIIa deficiency of platelet fibrinogen receptor platelet glycoprotein IIb-IIIa deficiency platelet-type bleeding disorder 2 thrombasthenia of Glanzmann and Naegeli	ITGA2 ITGA2B ITGB3	3673 3674 3690	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110033	autosomal recessive Alport syndrome	COL4A3 COL4A4	1285 1286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070579	spermatogenic failure 80 Aliases: SPGF80	DRC1	92749	Homo sapiens (human)	Alliance of Genome Resources
DOID:1883	hepatitis C Aliases: NANBH Viral hepatitis C chronic hepatitis C hepatitis C infection hepatitis nonA nonB	AFP CCL5 CCR5 HLA-DQA1 HLA-DQB1 HLA-DRB1 HLA-G IFNAR1 IFNG IFNL1 IL10 IL12A IL4 IL6 KIR3DL1 KIR3DS1 LDLR MBL2 PDCD1 SAMHD1 TLR3 TLR9	1234 174 25939 282618 3117 3119 3123 3135 3454 3458 3565 3569 3586 3592 3811 3813 3949 4153 5133 54106 6352 7098	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110431	dilated cardiomyopathy 1I Aliases: CMD1I	DES	1674	Homo sapiens (human)	Alliance of Genome Resources
DOID:8544	chronic fatigue syndrome Aliases: CFS Myalgic encephalitis Myalgic encephalomyelitis Postviral fatigue syndrome	HLA-DQA1 KIR3DS1 SLC6A4 TRPC6	3117 3813 6532 7225	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090135	complex cortical dysplasia with other brain malformations 5 Aliases: CDCBM5	TUBB2A	7280	Homo sapiens (human)	Alliance of Genome Resources
DOID:1993	rectum cancer Aliases: carcinoma of rectum carcinoma of the rectum malignant Rectal tumor malignant neoplasm of rectum malignant rectum tumor malignant tumor of rectum rectal cancer	CHD4 CYP24A1 GPX3 IL6 MAP3K1 MAPK14 MRE11 NBN XRCC5	1108 1432 1591 2878 3569 4214 4361 4683 7520	Homo sapiens (human)	Alliance of Genome Resources
DOID:999	hypereosinophilic syndrome Aliases: Eosinophilic leukocytosis eosinophilia	F5 PDGFRA	2153 5156	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060852	Pierson syndrome Aliases: microcoria-congenital nephrosis syndrome	LAMB2	3913	Homo sapiens (human)	Alliance of Genome Resources

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