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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 **901 - 925** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111664	ectodermal dysplasia 1 Aliases: CST syndrome Christ-Siemens-Touraine syndrome ED1 HED1 X-linked anhidrotic ectodermal dysplasia XHED XLHED ectodermal dysplasia 1, anhidrotic ectodermal dysplasia 1, hypohidrotic, X-linked ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked hypohidrotic ectodermal dysplasia, X-Linked	EDA	1896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081354	congenital myopathy 22A	Scn4a	110880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1909	melanoma Aliases: Naevocarcinoma malignant melanoma	kdr kita rnaset2 vegfaa	30256 30682 554230 791890	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:3613	Canavan disease Aliases: ACY2 DEFICIENCY AMINOACYLASE 2 DEFICIENCY ASP DEFICIENCY ASPA DEFICIENCY ASPARTOACYLASE DEFICIENCY CANAVAN-VAN BOGAERT-BERTRAND DISEASE Spongy degeneration of central nervous system	SOD2	6648	Homo sapiens (human)	Alliance of Genome Resources
DOID:10825	essential hypertension Aliases: idiopathic hypertension primary hypertension	ACSM3 ADD1 AGTR1 ATP1B1 CAT CDK7 CYP3A5 ECE1 ELN FGFR2 FTO HAVCR1 HSD11B1 LCN2 NOS3 NPPB NPR2 PTGIS PTPN1 RARRES2 RBP4 REN SLC12A3	1022 118 1577 185 1889 2006 2263 26762 3290 3934 481 4846 4879 4882 5740 5770 5919 5950 5972 6296 6559 79068 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:14179	X-linked agammaglobulinemia Aliases: BTK deficiency Bruton agammaglobulinemia tyrosine kinase deficiency Bruton disease Bruton's Sex-Linked Agammaglobulinemia Bruton's agammaglobulinaemia Bruton's type agammaglobulinemia Bruton-type agammaglobulinemia	Pik3r1	25513	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10923	sickle cell anemia Aliases: Hb SC disease Hb-S/Hb-C disease Hb-SS disease without crisis Hemoglobin S disease without crisis Sickle-cell/Hb-C disease without crisis drepanocytosis haemoglobin SC disease hemoglobin SC disease sickle cell anaemia	gpx-3 gpx-5 poml-1 poml-2 scav-2 scav-3	171999 176673 176787 181178 182513 187297	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	Abcc6 Enpp1 Gpx1 Mmp2 Sod2 Vegfa Xylt1 Xylt2	14775 17390 18605 20656 217119 22339 233781 27421	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060766	autosomal dominant Robinow syndrome 1 Aliases: DRS1	WNT5A	7474	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090107	autosomal dominant hypocalcemia 1 Aliases: HYPOC1	Casr	24247	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060558	lethal congenital contracture syndrome	VPS1	853870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	ADPRS BPHL PARG	54936 670 8505	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110875	holoprosencephaly 3 Aliases: HLP3 HPE3	Shh	20423	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8645	subacute delirium	Ache Htr1a	11423 15550	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060731	congenital central hypoventilation syndrome Aliases: CCHS Ondine curse Ondine syndrome central congenital hypoventilation syndrome congenital central alveolar hypoventilation syndrome	BDNF	627	Homo sapiens (human)	Alliance of Genome Resources
DOID:13544	low tension glaucoma Aliases: Normal tension glaucoma	Adrb1 Bdnf Hspd1 Myoc Slc1a1 Slc1a3 Sod1 Tlr4 Tnf Trp53	11554 12064 15510 17926 20510 20512 20655 21898 21926 22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060651	MYH-9 related disease	MYH9	4627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090141	cortisone reductase deficiency 1 Aliases: CORTRD1	H6pd	100198	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081007	RNASET2-deficient cystic leukoencephalopathy Aliases: cystic leukoencephalopathy without megalencephaly infantile-onset RNASET2 deficient cystic leukoencephalopathy	RNY1	855980	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111020	cone-rod dystrophy 9 Aliases: CORD9	ADAM9	8754	Homo sapiens (human)	Alliance of Genome Resources
DOID:14451	hyperkalemic periodic paralysis Aliases: familial hyperkalemic periodic paralysis	Scn4a	25722	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080269	autosomal dominant nonsyndromic deafness 73	Ptprq	360417	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080600	COVID-19 Aliases: 2019 Novel Coronavirus (2019-nCoV) 2019-nCoV infection COVID19 SARS-CoV-2 infection Wuhan coronavirus infection Wuhan seafood market pneumonia virus infection	C49C8.5 W01F3.2 acn-1 lev-9 zmp-3 zmp-4	177668 178748 179991 180351 180780 188252	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	beta3GalTII	35848	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050964	spinocerebellar ataxia type 14	Prkcg	18752	Mus musculus (house mouse)	Alliance of Genome Resources

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