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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 **2501 - 2525** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0111542	familial expansile osteolysis Aliases: FEO McCabe disease hereditary expansile polyostotic osteolytic dysplasia	TNFRSF11A	8792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111543	juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome Aliases: JP-HHT	SMAD4	4089	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111545	familial male-limited precocious puberty Aliases: FMPP familial gonadotropin-independent male-limited sexual precocity male-limited precocious puberty testotoxicosis	LHCGR	3973	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111546	Currarino syndrome Aliases: Currarino triad	MNX1	3110	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111547	retinal arterial tortuosity Aliases: RATOR retinal arteriolar tortuosity retinal hemorrhage with vascular tortuosity tortuosity of retinal arteries	COL4A1	1282	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111548	ring dermoid of cornea Aliases: RDC ring dermoid syndrome	PITX2	5308	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111549	aplasia of lacrimal and salivary glands Aliases: ALSG congenital absence of lacrimal puncta and salivary glands	FGF10	2255	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111551	neurogenic scapuloperoneal syndrome Kaeser type Aliases: Kaeser syndrome Stark-Kaeser syndrome scapuloperoneal syndrome type Kaeser scapuloperoneal syndrome, neurogenic, Kaeser type	DES	1674	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111555	Alkuraya-Kucinskas syndrome Aliases: ALKKUCS	BLTP1	84162	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111556	steatocystoma multiplex Aliases: multiple sebaceous cysts sebocystomatosis	KRT17	3872	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111558	Charcot-Marie-Tooth disease type 2DD Aliases: ATP1A1-related CMT2 ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2 CMT2DD Charcot-Marie-Tooth disease, axonal, type 2DD Charcot-Marie-Tooth neuropathy, type 2DD	ATP1A1 ATP1A2	476 477	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111561	stiff skin syndrome Aliases: SSKS	FBN1	2200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111562	overhydrated hereditary stomatocytosis Aliases: OHS potassium sodium disorder of erythrocyte stomatocytosisIOHST	RHAG	6005	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111563	Sturge-Weber syndrome Aliases: SWS Sturge-Weber-Dimitri syndrome Sturge-Weber-Krabbe angiomatosis Sturge-Weber-Krabbe syndrome encephalofacial angiomatosis encephalotrigeminal angiomatosis fourth phacomatosis leptomeningeal angiomatosis meningeal capillary angiomatosis	FN1 MMP2 MMP9	2335 4313 4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111564	hypoplastic or aplastic tibia with polydactyly Aliases: Werner mesomelic syndrome absence of tibia with polydactyly absent tibia-polydactyly syndrome hypoplastic tibiae-postaxial polydactyly syndrome tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	SHH	6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111566	familial isolated trichomegaly Aliases: TCMGLY long eyelashes	FGF5	2250	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111571	Weyers acrofacial dysostosis Aliases: Curry-Hall syndrome WAD Weyers acrodental dysostosis acrofacial dysostosis, Weyers type	EVC2	132884	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111574	autosomal recessive woolly hair 3 Aliases: ARWH3	KRT25	147183	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111576	dehydrated hereditary stomatocytosis 1 Aliases: PSHK1 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema pseudohyperkalemia edinburgh pseudohyperkalemia familial 1, due to red cell leak	PIEZO1	9780	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111577	dehydrated hereditary stomatocytosis 2 Aliases: desiccytosis Gardos xerocytosis Gardos	KCNN4	3783	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111578	Gillespie syndrome Aliases: GLSP aniridia, cerebellar ataxia and mental deficiency aniridia-cerebellar ataxia-intellectual disability syndrome	ITPR1	3708	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111579	asthma, nasal polyps, and aspirin intolerance Aliases: ASA triad	PTGER2	5732	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111580	Behr syndrome Aliases: Abortive cerebellar ataxia (BEHRS) BEHRS optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss optic atrophy, infantile hereditary, Behr complicated form of	OPA1	4976	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111581	C syndrome Aliases: OTCS Opitz C trigonocephaly Opitz trigonocephaly C syndrome Opitz trigonocephaly syndrome trigonocephaly C syndrome	CD96	10225	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111582	hereditary arterial and articular multiple calcification syndrome Aliases: CALJA arterial calcification and distal joint calcification arterial calcification due to CD73 deficiency arterial calcification due to deficiency of CD73 calcification of joints and arteries	NT5E TNFRSF11B	4907 4982	Homo sapiens (human)	Alliance of Genome Resources

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