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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 **6001 - 6025** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0081209	autosomal recessive intellectual developmental disorder 45	FBXO31	79791	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111210	autosomal dominant distal hereditary motor neuronopathy 6 Aliases: HMN IID HMN2D distal hereditary motor neuronopathy type 2D distal hereditary motor neuropathy type IID distal spinal muscular atrophy with calf predominance	FBXO38	81545	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112353	spermatogenic failure 64 Aliases: SPGF64	FBXO43	286151	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060372	Parkinson's disease 15 Aliases: Parkinsonian-pyramidal syndrome autosomal recessive early-onset Parkinson disease 15 autosomal recessive early-onset Parkinson's disease 15 pallidopyramidal syndrome	FBXO7	25793	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070420	developmental delay, hypotonia, and impaired language Aliases: DEDHIL	FBXW7	55294	Homo sapiens (human)	Alliance of Genome Resources
DOID:1579	respiratory system disease	FCGR2A	2212	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080179	haemophilus meningitis	FCGR2A	2212	Homo sapiens (human)	Alliance of Genome Resources
DOID:1098	fetal erythroblastosis Aliases: EF - Erythroblastosis foetalis Haemolytic disease due to rhesus isoimmunisation erythroblastosis fetalis rhesus isoimmunisation of the newborn	FCGR2A	2212	Homo sapiens (human)	Alliance of Genome Resources
DOID:633	myositis Aliases: Inflammatory disorder of muscle	FCGR3A HGF HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1 HLA-E HLA-F HLA-G IL1RN TNF	2214 3082 3105 3106 3107 3117 3119 3123 3133 3134 3135 3557 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111941	immunodeficiency 20 Aliases: CD16 deficiency IMD20 autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	FCGR3A	2214	Homo sapiens (human)	Alliance of Genome Resources
DOID:1587	thrombocytopenia due to platelet alloimmunization Aliases: Auto-immune thrombocytopenia Immune thrombocytopenia Thrombocytopenia Due to Immune Destruction	FCGR3A	2214	Homo sapiens (human)	Alliance of Genome Resources
DOID:3805	porokeratosis Aliases: disseminated superficial actinic porokeratosis	FDPS MVD MVK	2224 4597 4598	Homo sapiens (human)	Alliance of Genome Resources
DOID:5723	optic atrophy Aliases: atrophy of optic disc	FDXR MCAT MECR OPA1 SSBP1 WFS1	2232 27349 4976 51102 6742 7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:2742	auditory system disease Aliases: ear and mastoid disease	FDXR MYO7A	2232 4647	Homo sapiens (human)	Alliance of Genome Resources
DOID:11724	limb-girdle muscular dystrophy Aliases: Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy	FER1L5 FER1L6 FKRP MYOF SGCG	26509 6445 654463 79147 90342	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111723	Jacobsen Syndrome Aliases: Jacobsen distal 11q deletion syndrome chromosome 11q deletion syndrome partial 11q monosomy syndrome	FEZ2	9637	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090081	hypogonadotropic hypogonadism 22 with or without anosmia	FEZF1	389549	Homo sapiens (human)	Alliance of Genome Resources
DOID:2236	congenital afibrinogenemia Aliases: Factor I deficiency Fibrinogen deficiency	FGA FGB FGG	2243 2244 2266	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112313	brain small vessel disease	FGA FGG NR1D1 SELP THBD	2243 2266 6403 7056 9572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050636	familial visceral amyloidosis Aliases: AMYLOIDOSIS, FAMILIAL RENAL German type amyloidosis OSTERTAG TYPE AMYLOIDOSIS systemic nonneuropathic amyloidosis	FGA	2243	Homo sapiens (human)	Alliance of Genome Resources
DOID:484	vascular hemostatic disease	FGA	2243	Homo sapiens (human)	Alliance of Genome Resources
DOID:6683	X-linked Aarskog syndrome Aliases: Aarskog-Scott syndrome Greig's syndrome	FGD3	89846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110192	Charcot-Marie-Tooth disease type 4H Aliases: CMT4H Charcot-Marie-Tooth neuropathy type 4H autosomal recessive Charcot-Marie-Tooth disease type 4H autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H	FGD3	89846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080425	developmental and epileptic encephalopathy 47 Aliases: DEE47 early infantile epileptic encephalopathy 47	FGF10 FGF16 FGF3 FGF5 FGF6 FGF7	2248 2250 2251 2252 2255 8823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050331	lacrimoauriculodentodigital syndrome 1 Aliases: LEVY-HOLLISTER SYNDROME Lacrimo-auriculo-dento-digital syndrome 1	FGF10 FGFR2	2255 2263	Homo sapiens (human)	Alliance of Genome Resources

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