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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 **9926 - 9950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0070442	paroxysmal nonkinesigenic dyskinesia 3 Aliases: generalized epilepsy and paroxysmal dyskinesia	Kcnma1	16531	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8791	breast carcinoma in situ Aliases: Non-Infiltrating carcinoma of breast carcinoma in situ of breast	Igf2r	16004	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12119	hemosiderosis Aliases: haemosiderosis	Cp	12870	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3965	Merkel cell carcinoma Aliases: Trabecular adenocarcinoma trabecular carcinoma	Cd68	12514	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060210	amyotrophic lateral sclerosis type 19 Aliases: ALS19 amyotrophic lateral sclerosis 19	Erbb4	13869	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110242	cataract 13 with adult i phenotype Aliases: CTRCT13	Gcnt2	14538	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111807	syndromic microphthalmia 9 Aliases: Matthew-Wood syndrome anophthalmia-pulmonary hypoplasia syndrome anophthalmia/microphthalmia and pulmonary hypoplasia clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations pulmonary agenesis microphthalmi and diaphragmatic defect spear syndrome	Stra6	20897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110163	Charcot-Marie-Tooth disease axonal type 2F Aliases: CMT2F Charcot-Marie-Tooth neuronal type 2F Charcot-Marie-Tooth neuropathy type 2F autosomal dominant Charcot-Marie-Tooth disease type 2F	Hspb1	15507	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070229	intrahepatic cholestasis of pregnancy 3 Aliases: ICP3 pregnancy related cholestasis 3	Abcb4	18670	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11712	lipoatrophic diabetes mellitus Aliases: lipoatrophic diabetes	Lmna	16905	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090109	autosomal dominant hypocalcemia Aliases: HYPOC	Casr	12374	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12506	Bell's palsy Aliases: Bell palsy Bell's (facial) palsy	Ppia	268373	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110749	type 1 diabetes mellitus 10 Aliases: IDDM10 Insulin-Dependent Diabetes Mellitus 10	Il2ra	16184	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6498	seborrheic keratosis	Pik3ca	18706	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11166	Human papillomavirus infectious disease Aliases: HPV	Adar Cd274 Egfr Foxp3 H2-Eb1 Il1rl1 Tlr3 Tlr9	13649 142980 14969 17082 20371 56417 60533 81897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111253	neurofibromatosis 1 Aliases: NF1 Peripheral Neurofibromatosis Recklinghausen's neurofibromatosis neurofibromatosis type I von Recklinghausen Disease	Nf1 Vegfa	18015 22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14040	autoimmune polyendocrine syndrome Aliases: Autoimmune polyglandular failure Lloyd's syndrome autoimmune polyendocrinopathy	H2-Aa H2-Ab1 H2-Eb1	14960 14961 14969	Mus musculus (house mouse)	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	12159	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080556	congenital disorder of glycosylation Id Aliases: congenital disorder of glycosylation 1d	Alg3	208624	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:540	strabismus	Bmp4	12159	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110345	osteogenesis imperfecta type 16 Aliases: OI16 chromosome 11p11.2 deletion syndrome 91.3-KB osteogenesis imperfecta type XVI	Creb3l1	26427	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110662	congenital myasthenic syndrome 1B Aliases: CMS1B congenital myasthenic syndrome 1B, fast-channel	Chrna1	11435	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070489	classic dopamine transporter deficiency syndrome Aliases: PKDYS1 classic DTDS infantile parkinsonism-dystonia 1	Slc6a2 Slc6a3	13162 20538	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080204	renal hypoplasia	Ret	19713	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111062	familial hypobetalipoproteinemia 1 Aliases: FHBL1	Apob	238055	Mus musculus (house mouse)	Alliance of Genome Resources

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