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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 **11651 - 11675** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0060374	orofaciodigital syndrome IV Aliases: Baraitser-Burn syndrome OFD4	TCTN3	26123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111312	idiopathic generalized epilepsy 11 Aliases: EIG11	CLCN2	1181	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110124	Bardet-Biedl syndrome 2 Aliases: BBS2	BBS2	583	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060565	Ritscher-Schinzel syndrome Aliases: CCC dysplasia craniocerebellocardiac dysplasia	VPS35L	57020	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110741	type 1 diabetes mellitus 2 Aliases: IDDM2 Insulin-Dependent Diabetes Mellitus 2	IGF2 INS	3481 3630	Homo sapiens (human)	Alliance of Genome Resources
DOID:3178	skin papilloma Aliases: cutaneous papilloma papilloma of skin	TLR2	7097	Homo sapiens (human)	Alliance of Genome Resources
DOID:10629	microphthalmia Aliases: microphthalmos simple microphthalmos	CRIM1 GDF6 HCCS LRP5 MAB21L1 MFRP MID1 RBM24 STAU2 TRPM3	221662 27067 3052 392255 4041 4081 4281 51232 80036 83552	Homo sapiens (human)	Alliance of Genome Resources
DOID:2565	macular corneal dystrophy Aliases: Fehr corneal dystrophy MACULAR DYSTROPHY, CORNEAL, 1	CHST6	4166	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111705	oculoectodermal syndrome Aliases: Toriello-Lacassie-Droste syndrome aplasia cutis congenita-epibulbar dermoids syndrome	KRAS	3845	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060040	pervasive developmental disorder Aliases: Pervasive Child Development Disorders pervasive development disorder	DRD4 DRD5	1815 1816	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111123	nephronophthisis 15 Aliases: NPHP15	CEP164	22897	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081360	spastic quadriplegic cerebral palsy 2	KANK1	23189	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060173	Timothy syndrome	CACNA1C CACNA1D CACNA1F CACNA1S	775 776 778 779	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111822	CHILD syndrome Aliases: CHILD nevus congenital hemidysplasia with ichthyosiform nevus and limbs defects	NSDHL	50814	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080586	Van Maldergem syndrome 2	FAT4	79633	Homo sapiens (human)	Alliance of Genome Resources
DOID:14557	primary pulmonary hypertension Aliases: Idiopathic pulmonary arterial hypertension	ADORA2A ATP13A3 BMPR2 FGFR2 KCNK3 PPARG PTGIS RYR1 TNFSF4 TRIM63	135 2263 3777 5468 5740 6261 659 7292 79572 84676	Homo sapiens (human)	Alliance of Genome Resources
DOID:2115	B cell deficiency Aliases: B cell (antibody) deficiencies Immunoglobulin heavy chain deficiency immunoglobulin heavy chain deletion	TOP2A TOP2B	7153 7155	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060259	renal-hepatic-pancreatic dysplasia Aliases: Ivemark's syndrome	NPHP3	27031	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080351	CLOVES syndrome Aliases: congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	PIK3CA	5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M Aliases: LGMD2M MDDGC4 muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4	FKTN	2218	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110288	autosomal recessive limb-girdle muscular dystrophy type 2W Aliases: LGMD2W muscular dystrophy, limb-girdle, type 2W	LIMS2	55679	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110841	Usher syndrome type 3A Aliases: USH3A Usher syndrome type IIIA	CLRN1	7401	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070065	autosomal dominant intellectual developmental disorder 35 Aliases: MRD35 autosomal dominant mental retardation 35 autosomal dominant non-syndromic intellectual disability 35	PPP2R5D	5528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060179	Renpenning syndrome Aliases: Golabi-Ito-Hall syndrome Sutherland-Haan X-linked mental retardation syndrome X-linked intellectual disability due to PQBP1 mutations X-linked intellectual disability, Renpenning type X-linked mental retardation Renpenning type X-linked mental retardation with spastic diplegia syndromic X-linked mental retardation 8	PQBP1	10084	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111348	multiple epiphyseal dysplasia with myopia and deafness Aliases: EDMMD multiple epiphyseal dysplasia, Beighton type multiple epiphyseal dysplasia-myopia-deafness syndrome	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources

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