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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 **8526 - 8550** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0111494	combined oxidative phosphorylation deficiency 4 Aliases: COXPD4	Tufm	233870	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2280	hidradenitis suppurativa Aliases: Acne inversa, familial	CD163 LCN2 NCSTN TNF	23385 3934 7124 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111706	oblique facial clefting 1 Aliases: Tessier number 4 facial cleft	SPECC1L	23384	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080698	Teebi hypertelorism syndrome 1 Aliases: Opitz GBBB syndrome type II SPECC1L-related hypertelorism syndrome Teebi hypertelorism syndrome-1	SPECC1L	23384	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111696	familial adult myoclonic epilepsy 6 Aliases: BAFME6 FAME6 FCMTE6 benign adult familial myoclonic epilepsy 6 familial cortical myoclonic tremor and epilepsy 6	Tnrc6a	233833	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060399	chromosome 16p12.1 deletion syndrome	Mosmo Uqcrc2	233812 67003	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	Cant1 Xylt1	233781 76025	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060852	Pierson syndrome Aliases: microcoria-congenital nephrosis syndrome	LAMB2 TNS2	23371 3913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080585	Van Maldergem syndrome 1	Dchs1	233651	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060241	3-M syndrome Aliases: Le Merrer syndrome Miller-McKusick-Malvaux syndrome Yakut short stature syndrome dolichospondylic dysplasia gloomy face syndrome three M syndrome	CUL7 OBSL1	23363 9820	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112297	spondylometaphyseal dysplasia corner fracture type Aliases: SMDCF spondylometaphyseal dysplasia Sutcliffe type	FN1	2335	Homo sapiens (human)	Alliance of Genome Resources
DOID:12897	submandibular gland disease	FN1	2335	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:11758	iron deficiency anemia	APP ATP7A C1QA FN1 GPX1 HFE HP IL6 IREB2 ITGA2 PON1 SLC11A2 SLC40A1 SLC4A1 TF TFRC TNF	2335 2876 30061 3077 3240 351 3569 3658 3673 4891 538 5444 6521 7018 7037 712 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:9574	choanal atresia Aliases: Atresia of nares Imperforate nares posterior choanal atresia	SMCHD1	23347	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111193	facioscapulohumeral muscular dystrophy 2 Aliases: FSHD2 facioscapulohumeral muscular dystrophy 1B facioscapulohumeral muscular dystrophy type 2	SMCHD1	23347	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070249	autosomal dominant Emery-Dreifuss muscular dystrophy 4 Aliases: EDMD4 Emery-Dreifuss muscular dystrophy 4 with variable features Emery-Dreifuss muscular dystrophy 4, autosomal dominant	SYNE1	23345	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111618	autosomal recessive spinocerebellar ataxia 8 Aliases: ARCA1 Autosomal recessive cerebellar ataxia type 1 SCAR8 SYNE1-related autosomal recessive cerebellar ataxia autosomal recessive ataxia, Beauce type recessive ataxia of Beauce	SYNE1	23345	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080979	arthrogryposis multiplex congenita-3	SYNE1	23345	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080954	arthrogryposis multiplex congenita	SYNE1 VPS33B	23345 26276	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080984	X-linked intellectual developmental disorder 109 Aliases: Fragile XE syndrome fragile site on chromosome Xq28	AFF2	2334	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080413	developmental and epileptic encephalopathy 18 Aliases: DEE18 early infantile epileptic encephalopathy 18	SZT2	23334	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070201	Miyoshi muscular dystrophy 3 Aliases: MMD3 Miyoshi myopathy 3	Ano5	233246	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111338	isolated elevated serum creatine phosphokinase levels Aliases: elevated serum CPK idiopathic hyperCKemia isolated hyperCKemia	Ano5	233246	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111533	gnathodiaphyseal dysplasia Aliases: GDD Levin syndrome 2 gnathodiaphyseal sclerosis osteogenesis imperfecta with unusual skeletal lesions osteogenesis imperfecta, Levin type	Ano5	233246	Mus musculus (house mouse)	Alliance of Genome Resources

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