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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 **7151 - 7175** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0050836	focal dystonia	TOR1A	1861	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090017	epidermolysis bullosa simplex with muscular dystrophy Aliases: epidermolysis bullosa simplex and limb-girdle muscular dystrophy limb-girdle muscular dystrophy with epidermolysis bullosa simplex	PLEC	5339	Homo sapiens (human)	Alliance of Genome Resources
DOID:11713	diabetic angiopathy Aliases: Diabetic vascular disorder diabetic peripheral angiopathy	BDKRB1 CCL2 CD28 CD40LG EPO F3 FAS FASLG FN1 GP1BA GPX1 HLA-DRB1 ICAM1 IL1RN ITGAM MMP14 NOS2 NOS3 PLAT PON1 RBP4 SERPINE1 SOD1 SOD2 SPARC TNF VEGFA	2056 2152 2335 2811 2876 3123 3383 355 3557 356 3684 4323 4843 4846 5054 5327 5444 5950 623 6347 6647 6648 6678 7124 7422 940 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060789	hypomyelinating leukodystrophy 4 Aliases: HLD4 MitCHAP60 disease Pelizaeus-Merzbacher-like disease due to HSPD1 mutation mitochondrial HSP60 chaperonopathy	HSPD1	3329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110768	hereditary spastic paraplegia 15 Aliases: Kjellin syndrome SPG15 autosomal recessive spastic paraplegia 15 autosomal recessive spastic paraplegia type 15 hereditary spastic paraparesis type 15 spastic paraplegia and retinal degeneration spastic paraplegia-retinal degeneration syndrome	ZFYVE26	23503	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050489	multinodular goiter	DICER1	23405	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:0110976	brachydactyly type E2 Aliases: BDE2	PTHLH	5744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110726	neuronal ceroid lipofuscinosis 2 Aliases: CLN2 neuronal ceroid lipofuscinosis 2 variable age at onset	TPP1	1200	Homo sapiens (human)	Alliance of Genome Resources
DOID:10485	esophageal atresia Aliases: Congenital atresia of esophagus Congenital imperforate esophagus Imperforate esophagus Oesophageal atresia	EFTUD2	9343	Homo sapiens (human)	Alliance of Genome Resources
DOID:10587	Krabbe disease Aliases: Diffuse globoid body sclerosis GLOBOID CELL LEUKOENCEPHALOPATHY Galactosylceramide beta-galactosidase deficiency Krabbe's disease Krabbe's leukodystrophy beta galactocerebrosidase deficiency globoid cell leukodystrophy	GALC PSAP	2581 5660	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0112349	hereditary spastic paraplegia 81 Aliases: SPG81 autosomal recessive complex SPG due to Kennedy pathway dysfunction autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction spastic paraplegia 81 autosomal recessive	SELENOI	85465	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050824	sinoatrial node disease Aliases: SA node sinuatrial node	ANK2	287	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070007	Seckel syndrome 1 Aliases: SCKL1 microcephalic primordial dwarfism I	ATR	545	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070136	autosomal dominant cutis laxa 2 Aliases: ADCL2	FBLN5	10516	Homo sapiens (human)	Alliance of Genome Resources
DOID:11199	hypoparathyroidism	GATA3 TBCE	2625 6905	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:0111063	hyperphosphatemic familial tumoral calcinosis Aliases: HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia	GALNT3 GOLGB1 KL	2591 2804 9365	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050947	hereditary hypophosphatemic rickets with hypercalciuria	SLC34A1 SLC34A3	142680 6569	Homo sapiens (human)	Alliance of Genome Resources
DOID:9513	plasma cell leukemia Aliases: plasma cell leukaemia plasmacytic leukaemia plasmacytic leukemia	CD40 TERT	7015 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:14289	Ebstein anomaly Aliases: Ebstein's anomaly Ebstein's anomaly of common atrioventricular valve Ebstein's anomaly of right atrioventricular valve Ebstein's anomaly of tricuspid valve	BMPR1A	657	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060670	cerebral cavernous malformation 2	CCM2	83605	Homo sapiens (human)	Alliance of Genome Resources
DOID:5113	nutritional deficiency disease	SOD1	6647	Homo sapiens (human)	Alliance of Genome Resources
DOID:5733	salpingitis	CFTR	1080	Homo sapiens (human)	Alliance of Genome Resources
DOID:1350	paranasal sinus benign neoplasm Aliases: neoplasm of accessory sinus tumor of Accessory sinus	ANXA1 ANXA2 TP53	301 302 7157	Homo sapiens (human)	Alliance of Genome Resources

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