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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 **7251 - 7275** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0110774	hereditary spastic paraplegia 23 Aliases: Lison syndrome SPG23 Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome spastic paraplegia 23 spastic paraplegia with pigmentary abnormalities	DSTYK	25778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090129	carnitine palmitoyltransferase I deficiency Aliases: CPT I deficiency CPT1A deficiency L-CPT1 deficiency carnitine palmitoyl transferase 1A deficiency carnitine palmitoyl transferase IA deficiency hepatic CPT deficiency type I hepatic carnitine palmitoyl transferase 1 deficiency hepatic carnitine palmitoyl transferase I deficiency	Cpt1a	25757	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome Aliases: multiple pterygium syndrome	Chrng	25753	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111997	immunodeficiency 63 Aliases: IL2RB deficiency IMD63 immunodeficiency 63 with lymphoproliferation and autoimmunity	Il2rb	25746	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080178	mucositis	Pcna	25737	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081385	ataxia-telangiectasia-like disorder-2 Aliases: PCNA-related progressive neurodegenerative photosensitivity syndrome	Pcna	25737	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112295	spondylometaphyseal dysplasia	Acp5	25732	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060738	junctional epidermolysis bullosa non-Herlitz type Aliases: GABEB JEB-nH gen JEN-nH generalized atrophic benign epidermolysis bullosa generalized junctional epidermolysis bullosa, non-Herlitz type junctional epidermolysis bullosa generalisata mitis junctional epidermolysis bullosa, Disentis type	Itgb4	25724	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3209	junctional epidermolysis bullosa Aliases: congenital junctional epidermolysis bullosa	Itgb4	25724	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060733	junctional epidermolysis bullosa with pyloric atresia Aliases: Carmi syndrome JEB-PA epidermolysis bullosa junctionalis with pyloric atresia junctional epidermolysis bullosa-pyloric atresia syndrome	Itgb4	25724	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081354	congenital myopathy 22A	Scn4a	25722	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110682	congenital myasthenic syndrome 16 Aliases: CMS16 congenital myasthenic syndrome acetazolamide-responsive	Scn4a	25722	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14451	hyperkalemic periodic paralysis Aliases: familial hyperkalemic periodic paralysis	Scn4a	25722	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081355	congenital myopathy 22B	Scn4a	25722	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111538	paramyotonia congenita of Von Eulenburg Aliases: Eulenburg disease PMC Von Eulenburg paramyotonia congenita myotonia congenita intermittens paralysis periodica paramyotonica paramyotonia congenita	Scn4a	25722	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080715	developmental and epileptic encephalopathy 82 Aliases: DEE82 early infantile epileptic encephalopathy 82	Got2	25721	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110070	arrhythmogenic right ventricular dysplasia 1 Aliases: ARVC1 Uhl anomaly arrhythmogenic right ventricular cardiomyopathy 1	Tgfb3	25717	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070236	Loeys-Dietz syndrome 5 Aliases: LDS5 RNHF Reinhoff syndrome	Tgfb3	25717	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11759	hypochromic anemia Aliases: ANEMIA HYPOCHROMIC	Slc11a2	25715	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14176	selective IgG deficiency disease Aliases: Immunoglobin G subclass deficiency Selective IgG Immunodeficiency Selective Immunoglobulin G Subclass deficiency Selective deficiency of IgG Selective immunoglobulin G deficiency	Ifng	25712	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3611	acute retinal necrosis syndrome Aliases: acute retinal necrosis	Ifng	25712	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3265	chronic granulomatous disease Aliases: Bridges-Good syndrome CGD Congenital dysphagocytosis Quie syndrome	Ifng	25712	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9123	eczema herpeticum Aliases: Herpes simplex dermatitis of eyelid Herpes simplex eyelid dermatitis Herpes simplex virus dermatitis herpes simplex dermatitis herpes simplex virus eyelid dermatitis	Ifng	25712	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080325	tuberous sclerosis 2	Ifng	25712	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11077	brucellosis Aliases: Maltese fever undulant fever	Ifng	25712	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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