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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 **10301 - 10325** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0060292	X-linked chondrodysplasia punctata 1 Aliases: chondrodystrophia calcificans congenita	Ebp	13595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111865	MEND syndrome Aliases: male EBP disorder with neurological defects	Ebp	13595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2581	chondrodysplasia punctata Aliases: Chondrodysplasia punctata congenita	Ebp	13595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080352	X-linked chondrodysplasia punctata 2 Aliases: Conradi-Hunermann Syndrome Happle syndrome	Ebp	13595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14731	Weaver syndrome Aliases: WEAVER-LIKE SYNDROME Weaver-Williams syndrome	EZH2	2146	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110384	retinitis pigmentosa 25 Aliases: RP25	EYS	346007	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110440	dilated cardiomyopathy 1J Aliases: CMD1J autosomal dominant dilated cardiomyopathy with sensorineural hearing loss neurosensory deafness with dilated cardiomyopathy neurosensory hearing loss with dilated cardiomyopathy sensorineural deafness with dilated cardiomyopathy sensorineural hearing loss with dilated cardiomyopathy	EYA4	2070	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110542	autosomal dominant nonsyndromic deafness 10 Aliases: DFNA10 autosomal dominant deafness 10	EYA4	2070	Homo sapiens (human)	Alliance of Genome Resources
DOID:14702	branchiootorenal syndrome Aliases: Branchio-Oto-renal syndrome Branchio-otorenal dysplasia Melnick-Fraser syndrome branchiootorenal dysplasia	EYA3 EYA4 SIX1 SIX4 SIX5	147912 2070 2140 51804 6495	Homo sapiens (human)	Alliance of Genome Resources
DOID:206	hereditary multiple exostoses Aliases: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas	EXT1 EXT2 EXTL1 EXTL3	2131 2132 2134 2137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112334	pontocerebellar hypoplasia type 1C Aliases: PCH1C	EXOSC8	11340	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081175	short stature, hearing loss, retinitis pigmentosa, and distinctive facies	EXOSC2	23404	Homo sapiens (human)	Alliance of Genome Resources
DOID:3369	Ewing sarcoma Aliases: Ewing's family localized tumor Ewing's sarcoma/peripheral primitive neuroectodermal tumor Ewing's tumor Ewings sarcoma Ewings sarcoma-primitive neuroectodermal tumor PNET of Thoracopulmonary Region localized Ewing sarcoma localized Ewing's sarcoma localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor localized Ewing's tumor localized peripheral primitive neuroectodermal tumor peripheral primitive neuroectodermal tumor	EWSR1 KDM3A	2130 55818	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060198	amyotrophic lateral sclerosis type 6 Aliases: ALS6 amyotrophic lateral sclerosis 6, with or without frontotemporal dementia autosomal recessive amyotrophic lateral sclerosis 6	EWSR1 FUS	2130 2521	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111571	Weyers acrofacial dysostosis Aliases: Curry-Hall syndrome WAD Weyers acrodental dysostosis acrofacial dysostosis, Weyers type	EVC2	132884	Homo sapiens (human)	Alliance of Genome Resources
DOID:12714	Ellis-Van Creveld syndrome Aliases: Chondroectodermal dysplasia mesoectodermal dysplasia	EVC2 WDR35	132884 57539	Homo sapiens (human)	Alliance of Genome Resources
DOID:11088	asphyxia neonatorum Aliases: Asphyxia - birth Asphyxia, in liveborn infant Birth asphyxia postnatal asphyxia	EUG1 PDI1	850314 852130	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:9778	irritable bowel syndrome Aliases: IBD Irritable colon	EUG1 PDI1	850314 852130	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060438	Cole-Carpenter syndrome	EUG1 PDI1	850314 852130	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2048	autoimmune hepatitis Aliases: Autoimmune chronic active hepatitis autoimmune hepatitis with centrilobular necrosis	EUG1 PDI1	850314 852130	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2055	post-traumatic stress disorder Aliases: PTSD traumatic neurosis	EUG1 KAR2 PDI1	850314 852130 853418	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:6432	pulmonary hypertension	EUG1 HMG1 HMG2 HXK1 PDI1 RHO1 VVS1	850314 850614 851171 852130 852543 854900 856294	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060358	multiple acyl-CoA dehydrogenase deficiency Aliases: MAD deficiency MADD electron transfer flavoprotein deficiency electron transfer flavoprotein ubiquinone oxidoreductase deficiency glutaric acidemia type 2 glutaric aciduria type 2	ETFB	2109	Homo sapiens (human)	Alliance of Genome Resources
DOID:8029	sporadic breast cancer	ESR1 MLH1 PHB1 PTEN	2099 4292 5245 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:5325	Roberts syndrome Aliases: LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE RBS Roberts-Sc Phocomelia Syndrome SC phocomelia syndrome	ESCO1 ESCO2 SEC23A SEC23B	10483 10484 114799 157570	Homo sapiens (human)	Alliance of Genome Resources

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