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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 **14876 - 14900** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:1441	autosomal dominant cerebellar ataxia Aliases: spinocerebellar ataxia	ATXN1 ATXN1L ATXN2 ATXN2L ITPR1 ITPR2 ITPR3 NPTX1 SAMD9L	11273 219285 342371 3708 3709 3710 4884 6310 6311	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110030	alpha thalassemia-X-linked intellectual disability syndrome Aliases: ATR, nondeletion type ATR-X syndrome alpha-thalassemia/mental retardation syndrome nondeletion type	ATRX	546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080982	X-linked mental retardation-hypotonic facies syndrome-1	ATRX	546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112125	alpha-thalassemia myelodysplasia syndrome Aliases: ATMDS acquired HbH disease acquired hemoglobin H disease alpha-thalassemia-myelodysplastic syndrome	ATRX	546	Homo sapiens (human)	Alliance of Genome Resources
DOID:1799	islet cell tumor Aliases: Islet cell neoplasm endocrine pancreas cancer islet cell tumour malignant pancreatic Endocrine tumor malignant pancreatic Endocrine tumour malignant tumor of endocrine pancreas malignant tumour of endocrine pancreas pancreatic Endocrine neoplasm	ATRX DAXX PCSK1	1616 5122 546	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:0080202	adenoid cystic carcinoma	ATR KDM6A KMT2C NTRK3 SLC3A2 SLC7A5 TP53 XRN2	22803 4916 545 58508 6520 7157 7403 8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050569	Seckel syndrome Aliases: Harper's syndrome Virchow-Seckel dwarfism bird-headed dwarfism microcephalic primordial dwarfism	ATR ATRIP CDK5RAP2	545 55755 84126	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050768	mitochondrial complex V (ATP synthase) deficiency nuclear type 1 Aliases: MC5DN1	ATPAF2	91647	Homo sapiens (human)	Alliance of Genome Resources
DOID:2697	renal adenoma Aliases: renal cell adenoma	ATP7B	540	Homo sapiens (human)	Alliance of Genome Resources
DOID:686	liver carcinoma Aliases: Liver and Intrahepatic bile duct carcinoma	ATP7B HRAS IL10 NRAS	3265 3586 4893 540	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111196	X-linked distal spinal muscular atrophy 3 Aliases: ATP7A-related distal motor neuropathy DSMAX SMAX3 X-linked dHMN3 X-linked dSMA3 X-linked distal hereditary motor neuropathy type 3 X-linked recessive distal spinal muscular atrophy	ATP7A	538	Homo sapiens (human)	Alliance of Genome Resources
DOID:3144	cutis laxa Aliases: loose skin	ATP7A EFEMP1 EFEMP2 ELN FBLN5 LTBP1 LTBP4	10516 2006 2202 30008 4052 538 8425	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111272	occipital horn syndrome Aliases: EDS IX Ehlers-Danlos syndrome type 9 Ehlers-Danlos syndrome type IX X-linked cutis laxa	ATP7A ATP7B	538 540	Homo sapiens (human)	Alliance of Genome Resources
DOID:1838	Menkes disease Aliases: COPPER TRANSPORT DISEASE Menkes kinky-hair syndrome steely hair syndrome	ATP7A ATP7B LOX	4015 538 540	Homo sapiens (human)	Alliance of Genome Resources
DOID:896	metal metabolism disorder Aliases: inborn metal metabolism disorder	ATP7A ATP7B DTNBP1 TRPM6	140803 538 540 84062	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070140	autosomal recessive cutis laxa type IIC	ATP6V1E1	529	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112275	developmental and epileptic encephalopathy 93 Aliases: DEE93 IECEE3 infantile or early childhood epileptic encephalopathy 3	ATP6V1A	523	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070129	autosomal recessive cutis laxa type IID Aliases: ARCL2D	ATP6V1A	523	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070472	early-onset epilepsy 3 Aliases: EPEO3	ATP6V0C	527	Homo sapiens (human)	Alliance of Genome Resources
DOID:3963	thyroid gland carcinoma Aliases: head and neck cancer, Thyroid	ATP6V0C CD34 CD93 CDH5 EMCN FLT1 FLT4 KDR PTPRB ROBO4	1003 22918 2321 2324 3791 51705 527 54538 5787 947	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112171	wrinkly skin syndrome Aliases: WSS	ATP6V0A2	23545	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070134	autosomal recessive cutis laxa type IIA Aliases: ARCL2A	ATP6V0A2	23545	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070390	developmental and epileptic encephalopathy 104 Aliases: DEE104 early infantile epileptic encephalopathy 104	ATP6V0A1	535	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110942	autosomal recessive osteopetrosis 1 Aliases: OPTB1 autosomal recessive Albers-Schonberg disease infantile malignant osteopetrosis 1	ATP6V0A1 ATP6V0A2 ATP6V0A4	23545 50617 535	Homo sapiens (human)	Alliance of Genome Resources

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