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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 **10776 - 10800** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0050939	uterine corpus endometrial carcinoma	SF3B1	23451	Homo sapiens (human)	Alliance of Genome Resources
DOID:5768	Nager acrofacial dysostosis Aliases: AFD Nager syndrome acrofacial dysostosis 1, Nager type preaxial acrofacial dysostosis preaxial manibulofacial dysostosis	SF3B4	10262	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080019	metaphyseal dysplasia Aliases: Bakwin-Krida syndrome Pyle's disease Pyle-Cohn syndrome	SFRP4	6424	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050158	desquamative interstitial pneumonia Aliases: RBILD familial desquamative interstitial pneumonitis respiratory bronchiolitis-associated interstitial lung disease	SFTPC	6440	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110279	autosomal recessive limb-girdle muscular dystrophy type 2E Aliases: Beta-sarcoglycanopathy LGMD2E Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency muscular dystrophy, limb-girdle, type 2E	SGCB	6443	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110436	dilated cardiomyopathy 1L Aliases: CMD1L	SGCD SGCG SGCZ	137868 6444 6445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110280	autosomal recessive limb-girdle muscular dystrophy type 2F Aliases: LGMD2F delta-sarcoglycanopathy limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency	SGCD	6444	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090034	myoclonic dystonia 11	SGCE	8910	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110277	autosomal recessive limb-girdle muscular dystrophy type 2C Aliases: DMDA1 LGMD2C Maghrebian myopathy SCARMD autosomal recessive Duchenne-like muscular dystrophy type 1 deficiency of sarcoglycan gamma gamma-sarcoglycanopathy limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency muscular dystrophy, limb-girdle, type 2C severe childhood autosomal recessive muscular dystrophy North African type	SGCG	6445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080721	calvarial doughnut lesions with bone fragility	SGMS2	166929	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080265	nephrotic syndrome type 14	SGPL1	8879	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060398	chromosome 16p11.2 deletion syndrome, 220-kb Aliases: distal 16p11.2 microdeletion syndrome	SH2B1	25970	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060705	X-linked lymphoproliferative syndrome 1 Aliases: XLP1	SH2D1A	4068	Homo sapiens (human)	Alliance of Genome Resources
DOID:1856	cherubism	SH3BP2	6452	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111999	immunodeficiency 61 Aliases: IMD61	SH3KBP1	30011	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111789	Frank-Ter Haar syndrome Aliases: Borrone dermatocardioskeletal syndrome FTHS Ter Haar syndrome autosomal recessive Melnick-Needles syndrome megalocornea, multiple skeletal anomalies, and developmental delay	SH3PXD2B	285590	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111818	syndactyly type 4 Aliases: Haas type syndactyly SDTY4 polysyndactyly, Haas type	SHH	6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110875	holoprosencephaly 3 Aliases: HLP3 HPE3	SHH	6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111564	hypoplastic or aplastic tibia with polydactyly Aliases: Werner mesomelic syndrome absence of tibia with polydactyly absent tibia-polydactyly syndrome hypoplastic tibiae-postaxial polydactyly syndrome tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	SHH	6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111380	solitary median maxillary central incisor Aliases: SMMCI fused incisors single central maxillary incisor single median maxillary central incisor single upper central incisor	SHH	6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080692	Noonan syndrome-like disorder with loose anagen hair 1	SHOC2	8036	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080691	Noonan syndrome-like disorder with loose anagen hair	SHOC2	8036	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111633	congenital sucrase-isomaltase deficiency Aliases: CSID SI deficiency congenital sucrase-isomaltose malabsorption congenital sucrose intolerance disaccharide intolerance	SI	6476	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080465	developmental and epileptic encephalopathy 30 Aliases: DEE30 early infantile epileptic encephalopathy 30	SIK1	150094	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080195	Marinesco-Sjogren syndrome Aliases: Garland-Moorhouse syndrome Marinesco-Garland syndrome Oligophrenic cerebellolenticular degeneration hereditary oligophrenic cerebello-lental degeneration	SIL1	64374	Homo sapiens (human)	Alliance of Genome Resources

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