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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **176 - 200** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:987	alopecia	CDSN HLA-B	1041 3106	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070520	peeling skin syndrome 1 Aliases: PSS1 generalized inflammatory peeling skin syndrome inflammatory peeling skin syndrome peeling skin syndrome type B	CDSN	1041	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110699	hypotrichosis 2 Aliases: HTSS1 HYPT2 Spanish type hypotrichosis hypotrichosis simplex of the scalp 1	CDSN	1041	Homo sapiens (human)	Alliance of Genome Resources
DOID:1470	major depressive disorder Aliases: clinical depression major depression recurrent major depression single major depressive episode unipolar depression	Adcy3 Crtc1	104111 382056	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111249	uveal coloboma-cleft lip and palate-intellectual disability Aliases: COB1 Uveal coloboma-cleft lip/palate-mental retardation syndrome coloboma-microphthalmos syndrome coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation	YAP1	10413	Homo sapiens (human)	Alliance of Genome Resources
DOID:9268	glycine encephalopathy Aliases: GCE NKH Non-ketotic hyperglycinemia nonketotic hyperglycinemia	Gldc	104174	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9970	obesity	Alms1 Angptl6 Cpe Gpr12 Gucy2c Kdm3a Lep Lepr Mc3r Mc4r Ncoa1 Neil1 Npy1r Pcsk1 Pomc Prkci Snap25 a	104263 12876 14738 14917 16846 16847 17201 17202 17977 18166 18548 18759 18976 20614 236266 50518 70726 72774	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1094	attention deficit hyperactivity disorder Aliases: ADHD attention deficit disorder hyperkinetic disorder	Adgrl3 Brinp1 Cdh2 Chrnb2 Csnk1d Git1 Per1 Ptchd1 Slc6a3 Snap25 Tacr1	104318 11444 12558 13162 18626 20614 211612 21336 216963 319387 56710	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050908	myelodysplastic syndrome	Asxl1 Atg7 Bap1 Egr1 Npm1	104416 13653 18148 228790 74244	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112133	severe congenital neutropenia 3 Aliases: Kostmann disease Kostmann syndrome SCN3 infantile agranulocytosis	HAX1	10456	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:0060041	autism spectrum disorder	AVPR1B BAIAP2 BCL11A CADM2 CNTNAP2 COMT CYFIP1 DYRK1A FOXP2 ITGA4 MAOA MBD5 MBD6 MMP9	10458 114785 1312 1859 23191 253559 26047 3676 4128 4318 53335 553 55777 93986	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110367	retinitis pigmentosa 38 Aliases: RP38	MERTK	10461	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070261	congenital disorder of glycosylation type IIi Aliases: CDG IIi CDG syndrome type IIi CDG2I CDGIIi COG5-CDG Carbohydrate deficient glycoprotein syndrome type IIi Congenital disorder of glycosylation type 2i	COG5	10466	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:11612	polycystic ovary syndrome Aliases: Multicystic ovaries PCOS Polycystic Ovarian disease Polycystic ovaries Stein-Leventhal synd. Stein-Leventhal syndrome polycystic ovary	CAPN10 CYP19A1 CYP1A1 FST	10468 11132 1543 1588	Homo sapiens (human)	Alliance of Genome Resources
DOID:9074	systemic lupus erythematosus Aliases: Lupus Erythematosus, systemic SLE - Lupus Erythematosus, systemic disseminated lupus erythematosus	Atg7 C1qa C4b Cd40lg Cybb Def6 Dnase1 Ep300 Fas Fcgr2b Lbr Lyn Man2a1 Pdcd1 Pld4 Pparg Ptprc Rxra Timd4 Tlr7	104759 12259 12268 13058 13419 14102 14130 170743 17096 17158 18566 19016 19264 20181 21947 23853 276891 328572 74244 98386	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060825	Christianson syndrome Aliases: MRXSCH X-linked Angelman-like syndrome X-linked intellectual disability, South African type X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome mental retardation, X-linked syndromic, Christianson type mental retardation, microcephaly, epilepsy, and ataxia syndrome	SLC9A6	10479	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060074	ductal carcinoma in situ	BRCA2 HOXB13 NOTCH4 PAK2 RELA SRC	10481 4855 5062 5970 6714 675	Homo sapiens (human)	Alliance of Genome Resources
DOID:1338	congenital dyserythropoietic anemia Aliases: congenital dyshaematopoietic anaemia	CDAN1 RACGAP1 SEC23B	10483 146059 29127	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111399	congenital dyserythropoietic anemia type IIIa Aliases: CDA III CDA type 3 CDA type III CDAN3 Congenital dyserythropoietic anaemia type 3 Congenital dyserythropoietic anemia type 3 anaemia with multinucleated erythroblasts anemia with multinucleated erythroblasts congenital dyserythropoietic anaemia type III hereditary benign erythroreticulosis	KIF23 SEC23B	10483 9493	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111397	congenital dyserythropoietic anemia type Ib Aliases: CDA, type Ib CDAN1B	SEC23B	10483	Homo sapiens (human)	Glyco-Disease Genes Database
DOID:0111401	congenital dyserythropoietic anemia type II Aliases: CDA II CDA type 2 CDA type II CDAN2 Congenital dyserythropoietic anaemia type 2 Congenital dyserythropoietic anemia type 2 Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) SEC23B-CDG congenital dyserythropoietic anaemia type II	SEC23B	10483	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0081003	Cowden syndrome 7	SEC23B	10483	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070307	craniolenticulosutural dysplasia Aliases: Boyadjiev-Jabs Syndrome cranio-lenticulo-sutural dysplasia, CLSD	SEC23A	10484	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110337	osteogenesis imperfecta type 7 Aliases: OI7 osteogenesis imperfecta type VII	CRTAP	10491	Homo sapiens (human)	Alliance of Genome Resources

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