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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 **14601 - 14625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0050872	large cell neuroendocrine carcinoma	SLC7A5	8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:4896	bile duct adenocarcinoma	SLC7A5	8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081224	autosomal recessive intellectual developmental disorder 63	CAMK2A	815	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080228	autosomal dominant intellectual developmental disorder 53 Aliases: autosomal dominant mental retardation 53	CAMK2A	815	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080195	Marinesco-Sjogren syndrome Aliases: Garland-Moorhouse syndrome Marinesco-Garland syndrome Oligophrenic cerebellolenticular degeneration hereditary oligophrenic cerebello-lental degeneration	Sil1	81500	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060389	chromosome 10q23 deletion syndrome	Bmpr1a	81507	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111686	hereditary mixed polyposis syndrome 2 Aliases: HMPS2	Bmpr1a	81507	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14289	Ebstein anomaly Aliases: Ebstein's anomaly Ebstein's anomaly of common atrioventricular valve Ebstein's anomaly of right atrioventricular valve Ebstein's anomaly of tricuspid valve	Bmpr1a	81507	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1068	juvenile glaucoma Aliases: Glaucoma of childhood	Myoc	81523	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3314	angiomyolipoma	Ogg1	81528	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:678	progressive supranuclear palsy Aliases: Steele-Richardson-Olszewski syndrome progressive supranuclear ophthalmoplegia	Ogg1	81528	Rattus norvegicus (Norway rat)	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:0081215	autosomal recessive intellectual developmental disorder 52	LMAN2L	81562	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111183	familial hemiplegic migraine 3 Aliases: FHM3 MHP3	Scn1a	81574	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070379	developmental and epileptic encephalopathy 6B Aliases: DEE6B	Scn1a	81574	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080230	autosomal dominant intellectual developmental disorder 54 Aliases: autosomal dominant mental retardation 54	CAMK2B	816	Homo sapiens (human)	Alliance of Genome Resources
DOID:12053	cryptococcosis Aliases: Busse-Buschke's disease European cryptococcosis cryptococcal infection torula torulosis	Chia1	81600	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050644	arterial calcification of infancy Aliases: generalized arterial calcification of infancy idiopathic infantile arterial calcification infantile arteriosclerosis	Abcc6 Enpp1	81642 85496	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11661	blue color blindness Aliases: Tritan defect Tritanopia	Opn1sw	81644	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9973	substance dependence	Creb1	81646	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050579	glycogen storage disease XV Aliases: Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV	Gyg1	81675	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3390	palmoplantar keratosis Aliases: Keratosis palmaris et plantaris Palmoplantar Keratoderma palmo-plantar keratodermas	Jup	81679	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4603	epidermolytic hyperkeratosis Aliases: Bullous ichthyosiform erythroderma Epidermolytic palmoplantar hyperkeratosis epidermolytic ichthyosis	Jup	81679	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080551	Naxos disease	Jup	81679	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110083	arrhythmogenic right ventricular dysplasia 12 Aliases: ARVC12 ARVD12 arrhythmogenic right ventricular cardiomyopathy 12 familial arrhythmogenic right ventricular dysplasia 12	Jup	81679	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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