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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 **201 - 225** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111418	familial apolipoprotein C-II deficiency Aliases: C-II anapolipoproteinemia familial APOC2 deficiency familial apoC-II deficiency hyperlipoproteinemia, type 1b hyperlipoproteinemia, type Ib	APOC2	344	Homo sapiens (human)	Alliance of Genome Resources
DOID:8557	oropharynx cancer Aliases: Oropharyngeal carcinoma malignant Oropharyngeal tumor malignant tumor of oropharynx malignant tumour of mesopharynx oropharyngeal cancer	ERN1	2081	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081020	congenital fibrosis of the extraocular muscles 5	COL25A1	84570	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070096	oculocutaneous albinism type II Aliases: OCA2 Oculocutaneous Albinism, Tyrosinase-Positive	MC1R OCA2	4157 4948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081074	Teebi hypertelorism syndrome 2	CDH11	1009	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112306	Mahvash Disease Aliases: GCGR-related hyperglucagonemia nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor	GCGR	2642	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110290	autosomal recessive limb-girdle muscular dystrophy type 2X Aliases: LGMD2X muscular dystrophy, limb-girdle, type 2X	POPDC1	11149	Homo sapiens (human)	Alliance of Genome Resources
DOID:583	hemolytic anemia Aliases: ANEMIA HEMOLYTIC	A2m Abo2 Abo3 Abo Fcgr2a Fcgr2al1 Fcgr2b G6pd Gclc Hp Pgk1 Rhag	100301568 116591 24153 24377 24464 24644 25283 289211 296504 498276 65207 65270	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4511	breast angiosarcoma Aliases: hemangiosarcoma of the breast	Kdr Pik3ca Ptprb	16542 18706 19263	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9007	sudden infant death syndrome Aliases: Cot death Crib death SIDS Sudden death of nonspecific cause in infancy	SCN5A SLC6A4 VEGFA	6331 6532 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:612	primary immunodeficiency disease Aliases: hypoimmunity immune deficiency disorder immunodeficiency syndrome	Ostgamma Ptp69D Tl	34137 39443 43222	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060852	Pierson syndrome Aliases: microcoria-congenital nephrosis syndrome	by	41144	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110042	Alzheimer's disease 3 Aliases: AD3 Alzheimer disease 3 Alzheimer disease 3, early onset Alzheimer disease familial 3	psen1.L	399258	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0050872	large cell neuroendocrine carcinoma	SLC7A5	8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:10320	asbestosis	Tnc	116640	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110771	hereditary spastic paraplegia 18 Aliases: IDMDC SPG18 autosomal recessive spastic paraplegia 18 autosomal recessive spastic paraplegia type 18 intellectual disability, motor dysfunction and joint contractures	ERLIN2	11160	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	pigb.L pigb.S	108711378 734564	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080673	fibrochondrogenesis 2	Col11a2	12815	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3635	congenital myasthenic syndrome	acr-3 unc-63	172150 180937	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110210	Charcot-Marie-Tooth disease X-linked recessive 5 Aliases: CMT5X CMTX5 Charcot-Marie-Tooth neuropathy X-linked recessive 5 Rosenberg-Chutorian syndrome X-linked Charcot-Marie-Tooth disease type 5 optic atrophy, polyneuropathy, and deafness	PRPS1 PRPSAP1	5631 5635	Homo sapiens (human)	Alliance of Genome Resources
DOID:6000	congestive heart failure Aliases: CHF Cardiac Failure Congestive Congestive heart disease Weak heart	ace2 ace adra2c cs epoa foxo1a mstnb ogt.1 p2rx4a parp1 plcd1a	100004455 259258 266752 322339 337685 492331 555443 560788 565980 768121 798441	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:14654	prostatitis	BAMBI CCL11 CYP19A1 IL10 PTGS2 SMAD4	1588 25805 3586 4089 5743 6356	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110594	primary ciliary dyskinesia 1 Aliases: CILD1 primary ciliary dyskinesia 1 with or without situs inversus	Dnai1	68922	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:66	muscle tissue disease	Lmna	16905	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	Pomgnt2	316091	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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