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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 **13751 - 13775** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0110367	retinitis pigmentosa 38 Aliases: RP38	Mertk	65037	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060050	autoimmune disease of blood	C1galt1	65044	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080287	spinocerebellar ataxia 45	Fat2	65048	Rattus norvegicus (Norway rat)	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: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:0080442	developmental and epileptic encephalopathy 41 Aliases: DEE41 early infantile epileptic encephalopathy 41	SLC1A2	6506	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:3308	embryonal carcinoma Aliases: primary extragonadal embryonal carcinoma	fgf8b	65089	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0090086	hypogonadotropic hypogonadism 6 with or without anosmia	fgf8b	65089	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:3594	choriocarcinoma Aliases: Chorioepithelioma	fgf8b	65089	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:1911	endodermal sinus tumor Aliases: Hepatoid yolk sac tumour Yolk Sac neoplasm Yolk sac tumour endodermal sinus tumour infantile embryonal carcinoma yolk sac tumor	fgf8b	65089	Danio rerio (zebrafish)	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:0060821	syndromic X-linked intellectual disability 14 Aliases: mental retardation, X-linked, syndromic 14	UPF3B	65109	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: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:11721	glycogen storage disease VII Aliases: Glycogen storage disease 7 Glycogen storage disease, type VII Muscle phosphofructokinase deficiency glycogen storage disease type VII phosphofructokinase myopathy	Pfkm	65152	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9266	cystinuria	SLC3A1	6519	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: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:0111805	syndromic microphthalmia 6 Aliases: Bakrania-Ragge syndrome MCOPS6 anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia microphthalmia and pituitary anomalies microphthalmia with brain and digit anomalies syndromic microphthalmia type 6	BMP4	652	Homo sapiens (human)	Alliance of Genome Resources
DOID:540	strabismus	BMP4	652	Homo sapiens (human)	Alliance of Genome Resources

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