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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 **9951 - 9975** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:1579	respiratory system disease	FCGR2A	2212	Homo sapiens (human)	Alliance of Genome Resources
DOID:1098	fetal erythroblastosis Aliases: EF - Erythroblastosis foetalis Haemolytic disease due to rhesus isoimmunisation erythroblastosis fetalis rhesus isoimmunisation of the newborn	FCGR2A	2212	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070420	developmental delay, hypotonia, and impaired language Aliases: DEDHIL	FBXW7	55294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060372	Parkinson's disease 15 Aliases: Parkinsonian-pyramidal syndrome autosomal recessive early-onset Parkinson disease 15 autosomal recessive early-onset Parkinson's disease 15 pallidopyramidal syndrome	FBXO7	25793	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112353	spermatogenic failure 64 Aliases: SPGF64	FBXO43	286151	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111210	autosomal dominant distal hereditary motor neuronopathy 6 Aliases: HMN IID HMN2D distal hereditary motor neuronopathy type 2D distal hereditary motor neuropathy type IID distal spinal muscular atrophy with calf predominance	FBXO38	81545	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081209	autosomal recessive intellectual developmental disorder 45	FBXO31	79791	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080131	mitochondrial DNA depletion syndrome 13 Aliases: FBXL4 deficiency FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome mitochondrial DNA depletion syndrome 13, encephalomyopathic type	FBXL4	26235	Homo sapiens (human)	Alliance of Genome Resources
DOID:3978	extrinsic cardiomyopathy	FBP26	853286	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:5204	fructose-1,6-bisphosphatase deficiency Aliases: fructose 1 phosphate aldolase deficiency fructose-1,6-diphosphatase deficiency	FBP1	851092	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:5204	fructose-1,6-bisphosphatase deficiency Aliases: fructose 1 phosphate aldolase deficiency fructose-1,6-diphosphatase deficiency	FBP1	2203	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111595	congenital contractural arachnodactyly Aliases: Beals syndrome Beals-Hecht syndrome CCA arachnodactyly, contractural Beals type contractures, multiple with arachnodactyly distal arthrogryposis type 9 ear anomalies-contractures-dysplasia of bone with kyphoscoliosis	FBN2	2201	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111726	geleophysic dysplasia 2 Aliases: GPHYSD2	FBN1	2200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111561	stiff skin syndrome Aliases: SSKS	FBN1	2200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111243	acromicric dysplasia Aliases: ACMICD acromicric skeletal dysplasia	FBN1	2200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111150	autosomal dominant isolated ectopia lentis 1 Aliases: ECTOL1	FBN1	2200	Homo sapiens (human)	Alliance of Genome Resources
DOID:9835	refractive error	FBN1 PRSS56	2200 646960	Homo sapiens (human)	Alliance of Genome Resources
DOID:4783	mesangial proliferative glomerulonephritis	FBN1 FGFR1 ITGA8 ITGAM NR4A1 PDGFD VWF	2200 2260 3164 3684 7450 80310 8516	Homo sapiens (human)	Alliance of Genome Resources
DOID:65	connective tissue disease Aliases: connective tissue disorder disorder of connective tissue	FBN1 FBN2 FBN3 LTF SNRPA1 SNRPA SNRPB2 SNRPC SNRPD1	2200 2201 4057 6626 6627 6629 6631 6632 84467	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:0070135	autosomal recessive cutis laxa type IA Aliases: ARCL1A	FBLN5	10516	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080586	Van Maldergem syndrome 2	FAT4	79633	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080287	spinocerebellar ataxia 45	FAT2	2196	Homo sapiens (human)	Alliance of Genome Resources
DOID:11727	facioscapulohumeral muscular dystrophy Aliases: Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine	FAT1 LARGE1	2195 9215	Homo sapiens (human)	Alliance of Genome Resources
DOID:2475	chronic conjunctivitis	FAS LAMP2	355 3920	Homo sapiens (human)	Alliance of Genome Resources

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