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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 **5376 - 5400** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110390	retinitis pigmentosa 1 Aliases: RP1	RP1	6101	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110212	Charcot-Marie-Tooth disease X-linked recessive 4 Aliases: CMT4X CMTX4 Charcot-Marie-Tooth disease with deafness and mental retardation Cowchock syndrome NADMR NAMSD X-linked Charcot-Marie-Tooth disease type 4 axonal motor sensory neuropathy with deafness and mental retardation	AIFM1	9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080913	cerebrooculofacioskeletal syndrome 3	ERCC5	2073	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112240	Leber congenital amaurosis with early-onset deafness Aliases: LCAEOD	TUBB4B	10383	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060778	congenital diarrhea 7 with exudative enteropathy Aliases: congenital chronic diarrhea with exudative enteropathy congenital chronic diarrhea with protein-losing enteropathy congenital chronic diarrhoea with exudative enteropathy congenital chronic diarrhoea with protein-losing enteropathy congenital diarrhoea 7 with exudative enteropathy	DGAT1	8694	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111640	autosomal recessive nonsyndromic deafness 111 Aliases: DFNB111 autosomal recessive deafness 111	MPZL2	10205	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110943	autosomal recessive osteopetrosis 2 Aliases: OPTB2 mild autosomal recessive form osteopetrosis osteoclast-poor osteopetrosis	TNFSF11	8600	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050451	Brugada syndrome Aliases: Bangungut Brugada type idiopathic ventricular fibrillation Dream disease Pokkuri death syndrome SUNDS sudden unexplained nocturnal death syndrome	GSTM2	2946	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060354	Stormorken syndrome Aliases: thrombocytopathy, asplenia and miosis	STIM1	6786	Homo sapiens (human)	Alliance of Genome Resources
DOID:12987	agranulocytosis Aliases: Granulocytopenic disorder Granulopenia granulocytopenia	HLA-DQB1	3119	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111867	nonphotosensitive trichothiodystrophy	TARS1 TARS2 TARS3	123283 6897 80222	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110459	dilated cardiomyopathy 1FF Aliases: CMD1FF	TNNI3	7137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080436	developmental and epileptic encephalopathy 4 Aliases: DEE4 early infantile epileptic encephalopathy 4	STXBP1	6812	Homo sapiens (human)	Alliance of Genome Resources
DOID:14720	Ehlers-Danlos syndrome classic type 1 Aliases: Ehlers-Danlos syndrome, type 1 type I Ehlers-Danlos syndrome	COL5A1 COL5A2 LUM	1289 1290 4060	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112221	developmental and epileptic encephalopathy 87 Aliases: DEE87 early infantile epileptic encephalopathy 87	CDK8	1024	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110338	osteogenesis imperfecta type 17 Aliases: OI17 osteogenesis imperfecta type XVII	SPARC	6678	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110798	hereditary spastic paraplegia 46 Aliases: SPG46 autosomal recessive spastic paraplegia 46 autosomal recessive spastic paraplegia type 46	GBA2	57704	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050816	urofacial syndrome Aliases: Ochoa syndrome hydronephrosis with peculiar facial expression	HPSE2 LRIG2	60495 9860	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080114	mitochondrial complex III deficiency nuclear type 5	UQCRC2	7385	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111247	hypertension and brachydactyly syndrome Aliases: Bilginturan brachydactyly Bilginturan syndrome HTNB brachydactyly with hypertension type E brachydactyly with short stature and hypertension	PDE3A	5139	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112307	sarcosinemia Aliases: SARCOS SARD deficiency SARDH deficiency demethylation defect of N-methylglycine sarcosine dehydrogenase complex deficiency	SARDH	1757	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050879	fragile X-associated tremor/ataxia syndrome Aliases: FXTAS syndrome	FMR1	2332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080932	primary localized cutaneous amyloidosis 3 Aliases: Amyloidosis cutis dyschromica	GPNMB	10457	Homo sapiens (human)	Alliance of Genome Resources
DOID:12935	alcoholic cardiomyopathy Aliases: Alcohol-induced heart muscle disease Dilated cardiomyopathy secondary to alcohol	NOS1 PPARG	4842 5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050579	glycogen storage disease XV Aliases: Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV	GYG1	2992	Homo sapiens (human)	Alliance of Genome Resources

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