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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 **11001 - 11025** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0112337	spermatogenic failure 55 Aliases: SPGF55	SPAG17	200162	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:0050886	Troyer syndrome Aliases: SPG20 autosomal recessive spastic paraplegia 20 autosomal recessive spastic paraplegia Troyer type autosomal recessive spastic paraplegia type 20 childhood-onset spastic paraparesis with distal muscle wasting hereditary spastic paraplegia 20 spastic paraplegia 20 spastic paraplegia type 20	SPART	23111	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110792	hereditary spastic paraplegia 4 Aliases: SPG4 autosomal dominant spastic paraplegia 4 autosomal dominant spastic paraplegia type 4	SPAST	6683	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111706	oblique facial clefting 1 Aliases: Tessier number 4 facial cleft	SPECC1L	23384	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080698	Teebi hypertelorism syndrome 1 Aliases: Opitz GBBB syndrome type II SPECC1L-related hypertelorism syndrome Teebi hypertelorism syndrome-1	SPECC1L	23384	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111917	spermatogenic failure 43 Aliases: SPGF43	SPEF2	79925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111222	centronuclear myopathy 5 Aliases: CNM5	SPEG	10290	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110176	Charcot-Marie-Tooth disease axonal type 2X Aliases: Charcot-Marie-Tooth neuropathy type 2X autosomal recessive axonal Charcot-Marie-Tooth disease type 2X	SPG11	80208	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110764	hereditary spastic paraplegia 11 Aliases: HSP-TCC Nakamura-Osame syndrome SPG11 autosomal recessive spastic paraplegia 11 autosomal recessive spastic paraplegia complicated with thin corpus callosum autosomal recessive spastic paraplegia type 11 autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum spastic paraplegia-intellectual disability-thin corpus callosum syndrome	SPG11	80208	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060197	amyotrophic lateral sclerosis type 5 Aliases: ALS5 amyotrophic lateral sclerosis 5	SPG11	80208	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110816	hereditary spastic paraplegia 7 Aliases: SPG7 autosomal recessive spastic paraplegia 7 spastic paraplegia type 7	SPG7	6687	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060781	congenital secretory sodium diarrhea 3 Aliases: congenital secretory sodium diarrhea 3 syndromic congenital secretory sodium diarrhea 3 with or without other congenital anomalies congenital secretory sodium diarrhoea 3 congenital secretory sodium diarrhoea 3 syndromic congenital secretory sodium diarrhoea 3 with or without other congenital anomalies	SPINT2	10653	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111643	autosomal recessive nonsyndromic deafness 115 Aliases: DFNB115 autosomal recessive deafness 115	SPNS2	124976	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070185	X-linked spermatogenic failure 2 Aliases: SPGFX2	SPO22	854737	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070484	Legius syndrome Aliases: LGSS NF1-like syndrome neurofibromatosis type 1-like syndrome	SPRED1	161742	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	SPT14	855928	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	SPT14	855928	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110918	hereditary spherocytosis type 3 Aliases: HS3 SPH3 hereditary spherocytosis 3	SPTA1	6708	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080438	developmental and epileptic encephalopathy 5 Aliases: DEE5 early infantile epileptic encephalopathy 5	SPTAN1	6709	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081400	autosomal dominant distal hereditary motor neuronopathy 11	SPTAN1	6709	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050882	spinocerebellar ataxia type 5	SPTB SPTBN1 SPTBN2 SPTBN4	57731 6710 6711 6712	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110917	hereditary spherocytosis type 2 Aliases: HS2 SPH2 hereditary spherocytosis 2	SPTB	6710	Homo sapiens (human)	Alliance of Genome Resources
DOID:5572	Beckwith-Wiedemann syndrome	SPTBN1	6711	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080058	autosomal recessive spinocerebellar ataxia 14 Aliases: SCAR14	SPTBN2	6712	Homo sapiens (human)	Alliance of Genome Resources

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