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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 **5051 - 5075** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0060825	Christianson syndrome Aliases: MRXSCH X-linked Angelman-like syndrome X-linked intellectual disability, South African type X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome mental retardation, X-linked syndromic, Christianson type mental retardation, microcephaly, epilepsy, and ataxia syndrome	SLC9A6	10479	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060777	congenital secretory sodium diarrhea 8 Aliases: DIAR8	SLC9A3	6550	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080065	autosomal recessive spinocerebellar ataxia 19 Aliases: Lichtenstein-Knorr syndrome SCAR19	SLC9A1	6548	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060439	lysinuric protein intolerance Aliases: LPI dibasic amino aciduria II hyperdibasic aminoaciduria	SLC7A7	9056	Homo sapiens (human)	Alliance of Genome Resources
DOID:4896	bile duct adenocarcinoma	SLC7A5	8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050872	large cell neuroendocrine carcinoma	SLC7A5	8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110374	retinitis pigmentosa 68 Aliases: RP68	SLC7A14	57709	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050800	cerebral creatine deficiency syndrome 1 Aliases: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 SLC6A8 deficiency creatine transporter deficiency	SLC6A8	6535	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060698	hyperekplexia 3 Aliases: HKPX3	SLC6A5	9152	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060131	alexithymia	SLC6A4	6532	Homo sapiens (human)	Alliance of Genome Resources
DOID:7475	diverticulitis	SLC6A4	6532	Homo sapiens (human)	Alliance of Genome Resources
DOID:11569	neurocirculatory asthenia Aliases: Cardiovascular malfunction arising from mental factors Cardiovascular neurosis Da Costa's syndrome Krishaber's disease	SLC6A2	6530	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070489	classic dopamine transporter deficiency syndrome Aliases: PKDYS1 classic DTDS infantile parkinsonism-dystonia 1	SLC6A2 SLC6A3	6530 6531	Homo sapiens (human)	Alliance of Genome Resources
DOID:1060	Hartnup disease Aliases: Neutral 1 amino acid transport defect deficiency of tryptophan oxygenase neutral amino acid transport defect	SLC6A19	340024	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081212	autosomal recessive intellectual developmental disorder 48	SLC6A17	388662	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110661	congenital myasthenic syndrome 20 Aliases: CMS20 congenital myasthenic syndrome 20 presynaptic	SLC5A7	60482	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111199	autosomal dominant distal hereditary motor neuronopathy 7 Aliases: DHMN7A DHMNVPy HMN VIIA HMN7A Harper-Young myopath dHMN7 distal hereditary motor neuronopathy type 7 distal hereditary motor neuropathy type VIIA distal spinal muscular atrophy with vocal cord paralysis distal spinal muscular atrophy with vocal cord paralysis type 7A	SLC5A7	60482	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112185	thyroid dyshormonogenesis 1 Aliases: TDH1 genetic defect in thyroid hormonogenesis 1 iodide accumulation, transport, or trapping defect	SLC5A5	6528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050718	vitamin metabolic disorder	SLC5A12 SLC5A5 SLC5A6 SLC5A8	159963 160728 6528 8884	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080785	Brown-Vialetto-Van Laere syndrome 1	SLC52A3	113278	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080632	Fazio-Londe disease Aliases: riboflavin transporter deficiency neuronopathy	SLC52A3	113278	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080786	Brown-Vialetto-Van Laere syndrome 2	SLC52A2	79581	Homo sapiens (human)	Alliance of Genome Resources
DOID:8454	riboflavin deficiency Aliases: ariboflavinosis vitamin B2 deficiency	SLC52A1	55065	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050694	Brown-Vialetto-Van Laere syndrome	SLC52A1 SLC52A2 SLC52A3	113278 55065 79581	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111620	corneal dystrophy-perceptive deafness syndrome Aliases: CDPD CDPD1 Harboyan syndrome corneal dystrophy and perceptive deafness corneal dystrophy with progressive deafness corneal endothelial dystrophy and perceptive deafness	SLC4A11	83959	Homo sapiens (human)	Alliance of Genome Resources

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