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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 **851 - 875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0080526	bronchiectasis 1	Cftr Scnn1b	12638 20277	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	Hfe Tgfb1 Tp53	24842 29199 59086	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050734	congenital intrinsic factor deficiency Aliases: hereditary intrinsic factor deficiency	CBLIF	2694	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050981	spinocerebellar ataxia type 34	ELOVL4	6785	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112282	spondyloepiphyseal dysplasia Kimberley type Aliases: SEDK	ACAN	176	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060258	reticulate acropigmentation of Kitamura Aliases: RAPK	Adam10	11487	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060479	Shwachman-Diamond syndrome Aliases: Shwachman syndrome Shwachman-Bodian-Diamond syndrome Shwachman-Diamond type metaphyseal dysplasia pancreatic insufficiency and bone marrow dysfunction	Eif6 Serpini2	16418 67931	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111742	cerebellar ataxia type 42 Aliases: SCA42	CACNA1G	8913	Homo sapiens (human)	Alliance of Genome Resources
DOID:10892	hypospadias Aliases: familial hypospadias	Cyp1a1 Esr2 Fgf10 Fgf8 Fgfr2 Fos Gli3 Mamld1	13076 13983 14165 14179 14183 14281 14634 333639	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2431	glomus tumor Aliases: Glomus neoplasm Glomus tumour	GLMN	11146	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110098	atopic dermatitis 2 Aliases: ATOD2	FLG	2312	Homo sapiens (human)	Alliance of Genome Resources
DOID:3512	neurofibrosarcoma Aliases: Neurosarcoma	MXI1 VEGFA	4601 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:9220	central sleep apnea Aliases: primary central sleep apnea	NOS3 TACR1	4846 6869	Homo sapiens (human)	Alliance of Genome Resources
DOID:1587	thrombocytopenia due to platelet alloimmunization Aliases: Auto-immune thrombocytopenia Immune thrombocytopenia Thrombocytopenia Due to Immune Destruction	Fcgr3a	304966	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050782	Zollinger-Ellison syndrome	Egf Igf1r	25313 25718	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0090019	sitosterolemia Aliases: phytosterolemia	ABCG5 ABCG8	64240 64241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110447	dilated cardiomyopathy 1DD Aliases: CMD1DD	RBM20	282996	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10 Aliases: MDDGA10 Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10	RXYLT1	10329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060366	Hennekam syndrome Aliases: Hennekam lymphangiectasia-lymphedema syndrome lymphedem-lymphangiectasia-intellectual disability syndrome	ADAMTS3 CCBE1 FAT4	147372 79633 9508	Homo sapiens (human)	Alliance of Genome Resources
DOID:13133	HELLP syndrome	Egfr	37455	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:8552	chronic myeloid leukemia Aliases: CML CML - chronic Myelogenous Leukemia Myeloid Leukemia, chronic chronic granulocytic leukaemia chronic granulocytic leukemia chronic myelogenous leukaemia chronic myelogenous leukemia chronic myeloid leukaemia	ace	100144634	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:10609	rickets Aliases: active rickets	famk-1	181616	Caenorhabditis elegans	Alliance of Genome Resources
DOID:9280	carbamoyl phosphate synthetase I deficiency disease Aliases: CPS I deficiency	Cps1	497840	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070031	autosomal dominant intellectual developmental disorder 1 Aliases: MRD1 autosomal dominant mental retardation 1 autosomal dominant non-syndromic intellectual disability 1	MBD5	55777	Homo sapiens (human)	Alliance of Genome Resources
DOID:856	biotinidase deficiency Aliases: BTD deficiency Juvenile-onset multiple carboxylase deficiency Late-onset multiple carboxylase deficiency deficiency of biotinidase	BTD	686	Homo sapiens (human)	Alliance of Genome Resources

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