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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 **9226 - 9250** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:4897	bile duct carcinoma	MSLN SLC7A5	10232 8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110736	neurodegeneration with brain iron accumulation 2b Aliases: NBIA2b Neuroaxonal Dystrophy, Atypical Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related	PLA2G6	8398	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060491	SPOAN syndrome Aliases: spastic paraplegia, optic atropy, and neuropathy spastic paraplegia, optic atropy, and neuropathy syndrome	KLC2	64837	Homo sapiens (human)	Alliance of Genome Resources
DOID:12662	paracoccidioidomycosis Aliases: Mucocutaneous-lymphangitic paracoccidioidomycosis paracoccidioidal mycosis	CFB HLA-DRB1 IL1RL1 TNF	3123 629 7124 9173	Homo sapiens (human)	Alliance of Genome Resources
DOID:655	inherited metabolic disorder Aliases: Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder	BCHE GPHN HSD11B2 LIG1 MMAB NDUFS1 SLC22A5 SLC25A19	10243 326625 3291 3978 4719 590 60386 6584	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110175	Charcot-Marie-Tooth disease axonal type 2O Aliases: Charcot-Marie-Tooth neuropathy axonal type 2O autosomal dominant Charcot-Marie-Tooth disease type 2O autosomal dominant axonal Charcot-Marie-Tooth disease type 2O	DYNC1H1	1778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050489	multinodular goiter	DICER1	23405	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110177	Charcot-Marie-Tooth disease axonal type 2N Aliases: CMT2N Charcot-Marie-Tooth neuropathy axonal type 2N autosomal dominant Charcot-Marie-Tooth disease type 2N autosomal dominant axonal Charcot-Marie-Tooth disease type 2N	AARS1	16	Homo sapiens (human)	Alliance of Genome Resources
DOID:2101	vulva squamous cell carcinoma Aliases: Vulvar Epidermoid carcinoma vulvar squamous cell carcinoma	CDC25A CDC25B SFN	2810 993 994	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060940	dystonia 33	EIF2AK2	5610	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080109	infantile myofibromatosis Aliases: lipofibromatosis	NOTCH3 PDGFRB	4854 5159	Homo sapiens (human)	Alliance of Genome Resources
DOID:264	hemangiopericytoma Aliases: Haemangiopericytic meningioma hemangiopericytoma, malignant malignant hemangiopericytoma	DLL4 EPHB4 HES1 KDR NOTCH1 NOTCH4 PTEN	2050 3280 3791 4851 4855 54567 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080732	Ehlers-Danlos syndrome classic-like 2	AEBP1	165	Homo sapiens (human)	Alliance of Genome Resources
DOID:13550	angle-closure glaucoma Aliases: ACG - Angle-closure glaucoma Angle Closure Glaucoma Closed angle glaucoma Narrow cleft glaucoma primary open-angle glaucoma with narrow angles	APOE CAT EDN1 HGF LOXL1 MMP9 MUC5AC NOS3 TFAP2B	1906 3082 348 4016 4318 4586 4846 7021 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:1024	leprosy	HLA-DRB1 IL17A LTA NOD2 SLC11A1 TLR1 TLR2 TNF	3123 3605 4049 64127 6556 7096 7097 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:9965	toxoplasmosis Aliases: disseminated toxoplasmosis	BAX	581	Homo sapiens (human)	Alliance of Genome Resources
DOID:1060	Hartnup disease Aliases: Neutral 1 amino acid transport defect deficiency of tryptophan oxygenase neutral amino acid transport defect	SLC6A19	340024	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070405	hypomyelinating leukodystrophy 16 Aliases: HLD16	TMEM106B	54664	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111210	autosomal dominant distal hereditary motor neuronopathy 6 Aliases: HMN IID HMN2D distal hereditary motor neuronopathy type 2D distal hereditary motor neuropathy type IID distal spinal muscular atrophy with calf predominance	FBXO38	81545	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070093	schizophrenia 18 Aliases: Chromosome 7q36.3 Duplication Syndrome, 362-Kb SCZD18	SLC1A1	6505	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081061	nephrogenic diabetes insipidus type 2 Aliases: autosomal nephrogenic diabetes insipidus-2	AQP2	359	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050548	hereditary sensory neuropathy Aliases: familial dysautonomia, type II hereditary sensory and autonomic neuropathy	CCT4 DNMT1 DST NTRK1 SCN11A SPTLC1 WNK1	10558 10575 11280 1786 4914 65125 667	Homo sapiens (human)	Alliance of Genome Resources
DOID:1996	rectum adenocarcinoma Aliases: Rectal adenocarcinoma	EEF2 KDM6A SLC7A5 STAT3 STAT4 STAT6	1938 6774 6775 6778 7403 8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111074	progressive familial heart block type IA Aliases: PFHB1A	SCN5A	6331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080187	chronic neutrophilic leukemia	CSF3R	1441	Homo sapiens (human)	Alliance of Genome Resources

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