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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 **126 - 150** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0050633	ocular albinism 1 Aliases: Albinism ocular 1 ocular albinism	GPR143 TYR	4935 7299	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050634	alopecia universalis Aliases: ALOPECIA UNIVERSALIS CONGENITA	IL4	3565	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050635	alternating hemiplegia of childhood Aliases: AHC	ATP1A2	477	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050636	familial visceral amyloidosis Aliases: AMYLOIDOSIS, FAMILIAL RENAL German type amyloidosis OSTERTAG TYPE AMYLOIDOSIS systemic nonneuropathic amyloidosis	FGA	2243	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050637	Finnish type amyloidosis Aliases: AGel amyloidosis AMYLOIDOSIS, MERETOJA TYPE Lattice corneal dystrophy type II gelsolin amyloidosis	GSN	2934	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050638	transthyretin amyloidosis Aliases: ATTR amyloidosis ATTRm amyloidosis Amyloidosis, hereditary, transthyretin-related Corino de Andrade's disease Familial transthyretin amyloidosis TTR amyloidosis familial amyloid polyneuropathy paramyloidosis transthyretin-related hereditary amyloidosis	TTR	7276	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050639	primary cutaneous amyloidosis Aliases: PCA familial primary localized cutaneous amyloidosis	APOE	348	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050641	Rh deficiency syndrome	RHAG	6005	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050642	hypochromic microcytic anemia	TNF	7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050644	arterial calcification of infancy Aliases: generalized arterial calcification of infancy idiopathic infantile arterial calcification infantile arteriosclerosis	ABCC6 ENPP1	368 5167	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050645	arterial tortuosity syndrome	EFEMP2 SLC2A10	30008 81031	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050646	distal arthrogryposis Aliases: Arthrogryposis Multiplex Congenita	ADAMTS15 ECEL1 FBN2 MET MYBPC1 MYH15 MYH1 MYH7	170689 2201 22989 4233 4604 4619 4625 9427	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050647	Arts syndrome Aliases: ARTS Lethal ataxia with deafness and optic atrophy MRXS18 MRXSARTS fatal X-linked ataxia with deafness and loss of vision syndromic X-linked mental retardation 18 syndromic X-linked mental retardation Arts type	PITX2 PRPS1 PRPSAP1	5308 5631 5635	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050649	atransferrinemia Aliases: familial hypotransferrinemia	TF	7018	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050650	familial atrial fibrillation Aliases: ATFB	ABCC9 KCNE2 KCNQ1 NPPA NUP155 SCN1B SCN2B SCN5A ZFHX3	10060 3784 463 4878 6324 6327 6331 9631 9992	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050651	atrioventricular septal defect Aliases: AVCD AVSD ECD atrioventricular canal defect endocardial cushion defect	BMP4 CCN1 CRELD1 DNAH11 GATA4 NR1D2	2626 3491 652 78987 8701 9975	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050654	Baller-Gerold syndrome	RECQL4	9401	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050656	pseudo-TORCH syndrome 1 Aliases: BLC-PMG BLCPMG Baraitser-Brett-Piesowicz syndrome Baraitser-Reardon syndrome PTORCH1 band-like calcification with simplified gyration and polymicrogyria bilateral band-like calcification with polymicrogyria microcephaly-intracranial calcification-intellectual disability syndrome	OCLN	100506658	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050657	Bannayan-Riley-Ruvalcaba syndrome Aliases: Bannayan-Zonana syndrome Cowden syndrome 1 Riley-Smith syndrome Ruvalcaba-Myhre-Smith syndrome	PTEN	5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050659	biotin-responsive basal ganglia disease	SLC19A3	80704	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050660	Beare-Stevenson cutis gyrata syndrome	FGFR2	2263	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050661	vitelliform macular dystrophy Aliases: Best disease Best macular dystrophy juvenile-onset vitelliform macular dystrophy	IMPG1 IMPG2 PRPH2	3617 50939 5961	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050663	Bethlem myopathy Aliases: benign congenital muscular dystrophy	COL12A1 COL6A1 COL6A2 COL6A3	1291 1292 1293 1303	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050665	fetal alcohol syndrome	RHOA	387	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050667	alcohol-related neurodevelopmental disorder Aliases: ARND static encephalopathy	SLC13A1 SLC13A3 SLC13A5	284111 64849 6561	Homo sapiens (human)	Alliance of Genome Resources

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