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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
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	sqv-2	173635	Caenorhabditis elegans
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	sqv-2 sqv-3	173635 176382	Caenorhabditis elegans
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
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
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
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
DOID:0110443	dilated cardiomyopathy 1B	T07A5.1 T07D3.4 W02B3.4	173469 188207 189104	Caenorhabditis elegans
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
DOID:9884	muscular dystrophy	T07A5.1 T07D3.4 W02B3.4	173469 188207 189104	Caenorhabditis elegans
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	T07A5.1 T07D3.4 W02B3.4	173469 188207 189104	Caenorhabditis elegans
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
DOID:0050559	Fukuyama congenital muscular dystrophy	T07A5.1 T07D3.4 W02B3.4	173469 188207 189104	Caenorhabditis elegans
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
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
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
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
DOID:1588	thrombocytopenia	gale-1	173171	Caenorhabditis elegans
DOID:9870	galactosemia Aliases: Galactosaemia Galactose intolerance	ZK1058.3 gale-1	173171 175506	Caenorhabditis elegans
DOID:0110242	cataract 13 with adult i phenotype Aliases: CTRCT13	gly-15 gly-16	173109 173114	Caenorhabditis elegans
DOID:83	cataract	gly-15 gly-16 gspd-1	173109 173114 178046	Caenorhabditis elegans
DOID:0110645	long QT syndrome 2 Aliases: LQT2	algn-10	172855	Caenorhabditis elegans
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	algn-10	172855	Caenorhabditis elegans
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	sqv-5	172851	Caenorhabditis elegans
DOID:0060076	estrogen-receptor negative breast cancer	CYB5R3	1727	Homo sapiens (human)
DOID:2834	acquired polycythemia Aliases: Polycythemia, secondary secondary polycythemia	ACO1 BPGM CD177 CYB5R3 FH FUT1 G6PD HPRT1 PKLR SMUG1	1727 2271 23583 2523 2539 3251 48 5313 57126 669	Homo sapiens (human)

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