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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 **4401 - 4425** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0112338	spermatogenic failure 57 Aliases: SPGF57	PNLDC1	154197	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060649	congenital hereditary endothelial dystrophy of cornea Aliases: CHED	SLC4A11	83959	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:0110639	congenital muscular dystrophy due to integrin alpha-7 deficiency Aliases: congenital muscular dystrophy with ITGA7 deficiency congenital muscular dystrophy with integrin alpha-7 deficiency congenital myopathy due to integrin alpha-7 deficiency	ITGA7	3679	Homo sapiens (human)	Alliance of Genome Resources
DOID:10873	Kuhnt-Junius degeneration Aliases: Exudative senile macular degeneration of retina Neovascular age-related macular degeneration Senile macular degeneration, wet Wet senile macular retinal degeneration	APOE C3 CFI ELN FLT1 KDR LOXL1 NOS3 PON1 SOD2 VEGFA	2006 2321 3426 348 3791 4016 4846 5444 6648 718 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112004	immunodeficiency 71 Aliases: IMD71 PLTEID immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	ARPC1B	10095	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070201	Miyoshi muscular dystrophy 3 Aliases: MMD3 Miyoshi myopathy 3	ANO5	203859	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080242	syndromic X-linked mental retardation Hough type	CNKSR2	22866	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080675	Stickler syndrome 2	COL11A1	1301	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060882	renal hypomagnesemia 4 Aliases: HOMG4	EGF	1950	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111668	Kohlschutter-Tonz syndrome Aliases: KTZS Kohlschutter's syndrome amelocerebrohypohidrotic syndrome epilepsy and yellow teeth epilepsy dementia amelogenesis imperfecta epilepsy-dementia-amelogenesis imperfecta syndrome	ROGDI	79641	Homo sapiens (human)	Alliance of Genome Resources
DOID:1561	cognitive disorder Aliases: cognitive disease	APOC3 APP BDNF COMT CSF3 DMD PPARG	1312 1440 1756 345 351 5468 627	Homo sapiens (human)	Alliance of Genome Resources
DOID:9351	diabetes mellitus Aliases: diabetes	APOE CDKAL1 CSF1R CTSB CYP11B2 CYP1A1 CYP2C9 G6PD GCK GIPR HFE HMGCR IL6 INS INSR ITGA2 KCNJ11 NAT2 PTPRD SLC19A2 SOD3 TLR4 UCP3 WFS1	10 10560 1436 1508 1543 1559 1585 2539 2645 2696 3077 3156 348 3569 3630 3643 3673 3767 54901 5789 6649 7099 7352 7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110229	cataract 6 multiple types Aliases: CTRCT6	EPHA2	1969	Homo sapiens (human)	Alliance of Genome Resources
DOID:14502	cholesterol ester storage disease Aliases: CESD partial LAL deficiency partial LIPA deficiency partial cholesterol ester hydrolase deficiency partial lysosomal acid lipase deficiency	LIPA	3988	Homo sapiens (human)	Alliance of Genome Resources
DOID:1614	male breast cancer Aliases: malignant neoplasm of male breast neoplasm of male breast	CHEK2	11200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080625	severe congenital neutropenia 1	ELANE	1991	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080336	mitochondrial DNA depletion syndrome 14	OPA1	4976	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080941	acquired angioedema	XPNPEP2	7512	Homo sapiens (human)	Alliance of Genome Resources
DOID:13268	porphyria Aliases: Hematoporphyria Porphyrinopathy disorder of porphyrin and hem metabolism disorder of porphyrin metabolism	EPO	2056	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112380	muscular dystrophy-dystroglycanopathy type B2 Aliases: MDDGB2 congenital muscular dystrophy POMT2-related	POMT2	29954	Homo sapiens (human)	Alliance of Genome Resources
DOID:13336	congenital toxoplasmosis Aliases: Toxoplasmosis - congen.	HLA-DQA1	3117	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050461	aspartylglucosaminuria Aliases: aspartylglucosaminidase deficiency aspartylglycosaminuria glycosylasparaginase deficiency	AGA	175	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110629	Wolfram syndrome 1 Aliases: DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness	WFS1	7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060895	Parkinson's disease 4 Aliases: autosomal dominant Lewy body Parkinson disease 4 autosomal dominant Parkinson disease 4 autosomal dominant Parkinson's disease 4	SNCA	6622	Homo sapiens (human)	Alliance of Genome Resources

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