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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4151 - 4175** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	sqv-2	173635	Caenorhabditis elegans	Alliance of Genome Resources
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	sqv-2 sqv-3	173635 176382	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110958	Gaucher's disease type II Aliases: GD II GD2 Gaucher Disease, Acute Neuronopathic Type Infantile Cerebral Gaucher Disease	gba-1 gba-2 gba-3 gba-4	173574 177314 178535 183155	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110957	Gaucher's disease type I Aliases: Acid Beta-Glucosidase Deficiency GD I GD1 Gaucher Disease, Noncerebral Juvenile Gba Deficiency Glucocerebrosidase Deficiency	gba-1 gba-2 gba-3 gba-4	173574 177314 178535 183155	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1926	Gaucher's disease Aliases: Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis	gba-1 gba-2 gba-3 gba-4	173574 177314 178535 183155	Caenorhabditis elegans	Alliance of Genome Resources
DOID:12217	Lewy body dementia Aliases: Dementia with Lewy bodies Diffuse Lewy body disease Lewy body disease Senile dementia of the Lewy body type	gba-1 gba-2 gba-3 gba-4	173574 177314 178535 183155	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112379	muscular dystrophy-dystroglycanopathy type B4 Aliases: MDDGB4 congenital muscular dystrophy FKTN-related	T07A5.1 T07D3.4 W02B3.4	173469 188207 189104	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L Aliases: LGMD2L muscular dystrophy, limb-girdle, type 2L	T07A5.1 T07D3.4 W02B3.4	173469 188207 189104	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110443	dilated cardiomyopathy 1B	T07A5.1 T07D3.4 W02B3.4	173469 188207 189104	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	T07A5.1 T07D3.4 W02B3.4	173469 188207 189104	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050559	Fukuyama congenital muscular dystrophy	T07A5.1 T07D3.4 W02B3.4	173469 188207 189104	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110444	dilated cardiomyopathy 1X Aliases: CMD1X dilated cardiomyopathy with mild or no proximal muscle weakness	T07A5.1 T07D3.4 W02B3.4	173469 188207 189104	Caenorhabditis elegans	Alliance of Genome Resources
DOID:9884	muscular dystrophy	T07A5.1 T07D3.4 W02B3.4	173469 188207 189104	Caenorhabditis elegans	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	T07A5.1 T07D3.4 W02B3.4	173469 188207 189104	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	T07A5.1 T07D3.4 W02B3.4 bgnt-1.4 bgnt-1.5 lge-1	173469 182795 187206 188207 189104 3565692	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111458	galactose epimerase deficiency Aliases: GALE deficiency GALE-D UDP-galactose-4-epimerase deficiency epimerase deficiency galactosemia galactosemia III galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency	gale-1	173171	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1588	thrombocytopenia	gale-1	173171	Caenorhabditis elegans	Alliance of Genome Resources
DOID:9870	galactosemia Aliases: Galactosaemia Galactose intolerance	ZK1058.3 gale-1	173171 175506	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110242	cataract 13 with adult i phenotype Aliases: CTRCT13	gly-15 gly-16	173109 173114	Caenorhabditis elegans	Alliance of Genome Resources
DOID:83	cataract	gly-15 gly-16 gspd-1	173109 173114 178046	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	algn-10	172855	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110645	long QT syndrome 2 Aliases: LQT2	algn-10	172855	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	sqv-5	172851	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060076	estrogen-receptor negative breast cancer	CYB5R3	1727	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060474	familial erythrocytosis 2 Aliases: Chuvash erythromatosis Chuvash polycythemia Chuvash type polycythemia ECYT2 autosomal recessive benign erythrocytosis	ACO1 BPGM CD177 CYB5R3 FH FUT1 G6PD HPRT1 PKLR SMUG1	1727 2271 23583 2523 2539 3251 48 5313 57126 669	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET

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