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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 **7601 - 7625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
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:0111547	retinal arterial tortuosity Aliases: RATOR retinal arteriolar tortuosity retinal hemorrhage with vascular tortuosity tortuosity of retinal arteries	let-2	181708	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111547	retinal arterial tortuosity Aliases: RATOR retinal arteriolar tortuosity retinal hemorrhage with vascular tortuosity tortuosity of retinal arteries	Col4a1 vkg	33726 33727	Drosophila melanogaster (fruit fly)	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:0111549	aplasia of lacrimal and salivary glands Aliases: ALSG congenital absence of lacrimal puncta and salivary glands	Fgf10	25443	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111549	aplasia of lacrimal and salivary glands Aliases: ALSG congenital absence of lacrimal puncta and salivary glands	Fgf10	14165	Mus musculus (house mouse)	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:0111551	neurogenic scapuloperoneal syndrome Kaeser type Aliases: Kaeser syndrome Stark-Kaeser syndrome scapuloperoneal syndrome type Kaeser scapuloperoneal syndrome, neurogenic, Kaeser type	Des	13346	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111552	scapuloperoneal spinal muscular atrophy Aliases: SPSMA neurogenic scapuloperoneal amyotrophy, New England type scapuloperoneal neuronopathy	Trpv4	63873	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111553	spondyloepiphyseal dysplasia Maroteaux type Aliases: Brachyolmia Type 2 Pseudo-Morquio syndrome type 2 SED, Maroteaux type spondyloepiphyseal dysplasia of Maroteaux	Trpv4	63873	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111554	spondylometaphyseal dysplasia Kozlowski type Aliases: Jequier Kozlowski skeletal dysplasia Jequier-Kozlowski syndrome SMD Kozlowski type dysmorphism arthrogryposis skeletal maturation advanced skeletal dysplasia Jequier-Kozlowski type	Trpv4	63873	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111555	Alkuraya-Kucinskas syndrome Aliases: ALKKUCS	BLTP1	84162	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111555	Alkuraya-Kucinskas syndrome Aliases: ALKKUCS	CSF1	850776	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111555	Alkuraya-Kucinskas syndrome Aliases: ALKKUCS	Bltp1	229227	Mus musculus (house mouse)	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 Atp1a3 Atp4a	11928 11944 232975 98660	Mus musculus (house mouse)	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	Atp1a2 Atp1a3	24212 24213	Rattus norvegicus (Norway rat)	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: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	Atpalpha	48971	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111561	stiff skin syndrome Aliases: SSKS	Fbn1	14118	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111561	stiff skin syndrome Aliases: SSKS	FBN1	2200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111561	stiff skin syndrome Aliases: SSKS	fbn-1	176076	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111562	overhydrated hereditary stomatocytosis Aliases: OHS potassium sodium disorder of erythrocyte stomatocytosisIOHST	Rhag	19743	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111562	overhydrated hereditary stomatocytosis Aliases: OHS potassium sodium disorder of erythrocyte stomatocytosisIOHST	Rhag	65207	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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