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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 **6151 - 6175** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:11088	asphyxia neonatorum Aliases: Asphyxia - birth Asphyxia, in liveborn infant Birth asphyxia postnatal asphyxia	MAP2 PDIA3 XRCC1	2923 4133 7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111917	spermatogenic failure 43 Aliases: SPGF43	SPEF2	79925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080785	Brown-Vialetto-Van Laere syndrome 1	Slc52a3	69698	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	OGT	8473	Homo sapiens (human)	Alliance of Genome Resources
DOID:1580	diffuse scleroderma Aliases: diffuse systemic sclerosis systemic sclerosis, diffuse	Adipoq Fcgr2b Fcgr3 H2-Aa Il10 Il13 Kdr Tlr2 Wrn	11450 14130 14131 14960 16153 16163 16542 22427 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110443	dilated cardiomyopathy 1B	T07A5.1 T07D3.4 W02B3.4	173469 188207 189104	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080155	very long chain acyl-CoA dehydrogenase deficiency Aliases: VLCAD deficiency	Acadvl	11370	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111042	glycogen storage disease IXa Aliases: GSD type 9A GSD type IXa GSD9A glycogen storage disease type 9A glycogen storage disease type IXa glycogenosis type 9A glycogenosis type IXa	C14B9.8	176149	Caenorhabditis elegans	Alliance of Genome Resources
DOID:3191	nemaline myopathy Aliases: Nemaline body disease nemaline rod myopathy rod body disease rod myopathy	ACTB ACTC1 NEB	4703 60 70	Homo sapiens (human)	Alliance of Genome Resources
DOID:4603	epidermolytic hyperkeratosis Aliases: Bullous ichthyosiform erythroderma Epidermolytic palmoplantar hyperkeratosis epidermolytic ichthyosis	Jup Krt1	16480 16678	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2513	basal cell carcinoma Aliases: Basal cell cancer Basal cell carcinoma of skin Basal cell neoplasm Basal cell tumor Epithelioma basal cell Rodent ulcer malignant Basal cell neoplasm malignant basal cell tumor	Ogg1 ptc smo	31806 33196 35851	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070025	X-linked dyskeratosis congenita Aliases: DKCX Zinsser-Cole-Engman syndrome	Dkc1	170944	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080311	X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance	ARHGAP26 OPHN1	23092 4983	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	ALG1 ALG1L2	56052 644974	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:12365	malaria Aliases: induced malaria	Abcb1a Abcb1b Ackr1 Aqp4 Cd163 Cd36 Cr1l Ctla4 Ephb3 Fcgr2b Fcgr3 Foxp3 G6pd2 G6pdx Gypa Icam1 Ifng Procr Tnf Trem1	11829 12477 12491 12946 13349 13845 14130 14131 14380 14381 14934 15894 15978 18669 18671 19124 20371 21926 58217 93671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4971	myelofibrosis Aliases: Agnogenic myeloid metaplasia Aleukemic myelosis Megakaryocytic myelosclerosis bone Marrow Fibrosis myelosclerosis primary myelofibrosis	tgfb1.L	397778	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	large1.L large1.S	108704366 108712551	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0060292	X-linked chondrodysplasia punctata 1 Aliases: chondrodystrophia calcificans congenita	ARSL EBP NSDHL	10682 415 50814	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	Fcgr2b Fcgr3	14130 14131	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080010	bone structure disease	YLR001C	850687	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:9296	cleft lip Aliases: Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip	BMP4 CDH1 FGFR1 GDF6 MTHFD1 NECTIN1 NOG POMT1 SDC2 SLC19A1	10585 2260 392255 4522 5818 6383 652 6573 9241 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110033	autosomal recessive Alport syndrome	COL4A3 COL4A4	1285 1286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070145	hereditary sensory and autonomic neuropathy type 5 Aliases: HSAN5 hereditary sensory and autonomic neuropathy type V	ngfb	58133	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:4914	esophagus adenocarcinoma Aliases: Oesophageal adenocarcinoma	kdr smo	30225 554230	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060307	autosomal dominant intellectual developmental disorder Aliases: autosomal dominant mental retardation autosomal dominant non-syndromic mental retardation	CMR2 GIS1 SSN2	851670 852053 854260	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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