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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 **301 - 325** of **4649** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
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	TGFBI	7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080530	granular corneal dystrophy 1 Aliases: corneal dystrophy, Groenouw type I	TGFBI	7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060444	granular corneal dystrophy 2 Aliases: CGD2 avellino corneal dystrophy combined granular-lattice corneal dystrophy corneal dystrophy, Avellino type granular corneal dystrophy type 2	TGFBI	7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110070	arrhythmogenic right ventricular dysplasia 1 Aliases: ARVC1 Uhl anomaly arrhythmogenic right ventricular cardiomyopathy 1	TGFB3	7043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070236	Loeys-Dietz syndrome 5 Aliases: LDS5 RNHF Reinhoff syndrome	TGFB3	7043	Homo sapiens (human)	Alliance of Genome Resources
DOID:5637	pancreatic adenosquamous carcinoma Aliases: Adenosquamous carcinoma of pancreas	TGFB2	7042	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070233	Loeys-Dietz syndrome 4 Aliases: Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations LDS4	TGFB2	7042	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050466	Loeys-Dietz syndrome	TGFB2 TGFBR1 TGFBR2	7042 7046 7048	Homo sapiens (human)	Alliance of Genome Resources
DOID:11263	chlamydia Aliases: Chlamydia trachomatis infectious disease Chlamydial Infection chlamydial disease	TGFB1	7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081122	Catel Manzke syndrome Aliases: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome Micrognathia digital syndrome	TGDS	23483	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112187	thyroid dyshormonogenesis 3 Aliases: TDH3 genetic defect in thyroid hormonogenesis 3	TG	7038	Homo sapiens (human)	Alliance of Genome Resources
DOID:374	nutrition disease Aliases: Nutritional disorder	TFRC	7037	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111948	immunodeficiency 46 Aliases: CID due to TFRC deficiency IMD46 TFRC-related combined immunodeficiency combined immunodeficiency due to TFRC deficiency	TFRC	7037	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111030	hemochromatosis type 3 Aliases: HFE3 TFR2-related hemochromatosis hemochromatosis due to defect in transferrin receptor 2	TFR2	7036	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110809	hereditary spastic paraplegia 57 Aliases: SPG57 autosomal recessive spastic paraplegia 57 autosomal recessive spastic paraplegia type 57	TFG	10342	Homo sapiens (human)	Alliance of Genome Resources
DOID:3493	signet ring cell adenocarcinoma Aliases: Signet ring carcinoma Signet ring cell carcinoma	TFF1	7031	Homo sapiens (human)	Alliance of Genome Resources
DOID:3702	cervical adenocarcinoma Aliases: adenocarcinoma cervix uteri adenocarcinoma of cervix adenocarcinoma of the uterine Cervix	TFF1 TFRC TP53	7031 7037 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060563	Char syndrome	TFAP2B	7021	Homo sapiens (human)	Alliance of Genome Resources
DOID:12934	Kearns-Sayre syndrome	TFAM	7019	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080337	mitochondrial DNA depletion syndrome 15	TFAM	7019	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050649	atransferrinemia Aliases: familial hypotransferrinemia	TF	7018	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070016	autosomal dominant dyskeratosis congenita 2 Aliases: DKCA2	TERT	7015	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111432	essential tremor 5 Aliases: ETM5 hereditary essential tremor 5	TENM4	26011	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050792	multiple cutaneous and mucosal venous malformations Aliases: VMCM cutaneomucosal venous malformation mucocutaneous venous malformations	TEK	7010	Homo sapiens (human)	Alliance of Genome Resources
DOID:12176	goiter Aliases: goitre	TEK TG	7010 7038	Homo sapiens (human)	Alliance of Genome Resources

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