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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 **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:668	myositis ossificans Aliases: Myisitis ossificans Ossification - muscle	BMP4	652	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:0060805	Prieto syndrome Aliases: Prieto-Badia-Mulas syndrome X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome	WNK3	65267	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110919	hereditary spherocytosis type 4 Aliases: HS4 SPH4 hereditary spherocytosis 4	SLC4A1	6521	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110481	autosomal recessive nonsyndromic deafness 23 Aliases: DFNB23 autosomal recessive deafness 23	PCDH15	65217	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110832	Usher syndrome type 1F Aliases: USH1F Usher syndrome type IF	PCDH15	65217	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080899	lung pleomorphic carcinoma	SLC3A2 SLC7A5	6520 8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:13374	fibrodysplasia ossificans progressiva Aliases: Stone Man Syndrome myositis ossificans progressiva progressive myositis ossificans progressive ossifying myositis	ACVR1 ACVRL1 BMP4	652 90 94	Homo sapiens (human)	Alliance of Genome Resources
DOID:18	urinary system disease Aliases: Non-neoplastic urinary tract disease urinary tract disease	BMP4 LZTS2	652 84445	Homo sapiens (human)	Alliance of Genome Resources
DOID:9266	cystinuria	SLC3A1	6519	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090045	childhood onset GLUT1 deficiency syndrome 2	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060326	myelomeningocele	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090044	dystonia 9	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111313	idiopathic generalized epilepsy 12 Aliases: EIG12	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070155	hereditary sensory and autonomic neuropathy type 2A Aliases: HSAN2A hereditary sensory and autonomic neuropathy type IIA	WNK1	65125	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060821	syndromic X-linked intellectual disability 14 Aliases: mental retardation, X-linked, syndromic 14	UPF3B	65109	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070537	spastic tetraplegia, thin corpus callosum, and progressive microcephaly Aliases: SPATCCM	SLC1A4	6509	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111469	combined oxidative phosphorylation deficiency 16 Aliases: COXPD16 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	MRPL44	65080	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080442	developmental and epileptic encephalopathy 41 Aliases: DEE41 early infantile epileptic encephalopathy 41	SLC1A2	6506	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070093	schizophrenia 18 Aliases: Chromosome 7q36.3 Duplication Syndrome, 362-Kb SCZD18	SLC1A1	6505	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060650	dicarboxylic aminoaciduria Aliases: glutamate-aspartate transport defect	SLC1A1	6505	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050994	episodic ataxia type 6	SLC1A1 SLC1A3 SLC1A4 SLC1A5 SLC1A6 SLC1A7	6505 6507 6509 6510 6511 6512	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060369	Parkinson's disease 6 Aliases: PARK6 autosomal recessive early-onset Parkinson disease 6 autosomal recessive early-onset Parkinson's disease 6 early-onset Parkinson disease 6	PINK1	65018	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110342	osteogenesis imperfecta type 13 Aliases: OI13 osteogenesis imperfecta type XIII	BMP1	649	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111416	trichohepatoenteric syndrome 2 Aliases: THES2	SKIC2	6499	Homo sapiens (human)	Alliance of Genome Resources

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