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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 **7326 - 7350** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0112381	muscular dystrophy-dystroglycanopathy type C12 Aliases: LGMD due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency MDDGC12 muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related	POMK	84197	Homo sapiens (human)
DOID:4265	angiomyoma Aliases: vascular leiomyoma	SDHB	6390	Homo sapiens (human)
DOID:1495	cystic echinococcosis Aliases: Echinococcus granulosus infection Echinococcus granulosus infection of lung Echinococcus granulosus infection of thyroid Liver echinococcus granulosus Thyroid echinococcus granulosus echinococcus granulosus echinococcus granulosus infectious disease echinococcus granulosus infectious disease of liver echinococcus granulosus infectious disease of thyroid lung echinococcus granulosus unilocular echinococcosis unilocular hydatid disease	Tlr2 Tlr4	21898 24088	Mus musculus (house mouse)
DOID:8704	genital herpes Aliases: Genital herpes simplex Herpes Genitalis Virus-Genital Herpes venereal herpes	CTSA	5476	Homo sapiens (human)
DOID:0110494	autosomal recessive nonsyndromic deafness 36 Aliases: DFNB36 autosomal recessive deafness 36	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	pomt1 pomt2	563878 569769	Danio rerio (zebrafish)
DOID:0050674	congenital bile acid synthesis defect Aliases: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency CBA cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency	AKR1D1 AMACR CYP7A1 CYP7B1 HSD3B7	1581 23600 6718 80270 9420	Homo sapiens (human)
DOID:0111953	immunodeficiency 23 Aliases: CID due to PGM3 deficiency IMD23 PGM3-CDG PGM3-related congenital disorder of glycosylation combined immunodeficiency due to PGM3 deficiency	PCM1	856652	Saccharomyces cerevisiae S288C
DOID:3805	porokeratosis Aliases: disseminated superficial actinic porokeratosis	FDPS	2224	Homo sapiens (human)
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	C14B9.8 cts-1	176149 176437	Caenorhabditis elegans
DOID:0080718	GNE myopathy Aliases: Distal myopathy, Nonaka type Hereditary Inclusion Body Myopathy Nonaka myopathy inclusion body myopathy 2	Gne	114711	Rattus norvegicus (Norway rat)
DOID:0060697	hyperekplexia 2 Aliases: HKPX2	PRNP	5621	Homo sapiens (human)
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	PIG-A	37020	Drosophila melanogaster (fruit fly)
DOID:13636	Fanconi anemia Aliases: Fanconi anaemia Fanconi pancytopenia Fanconi panmyelopathy Fanconi's anaemia Fanconi's anemia	Tnf	21926	Mus musculus (house mouse)
DOID:0110769	hereditary spastic paraplegia 16 Aliases: SPG16 X-linked spastic paraplegia 16 X-linked spastic paraplegia type 16	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0080555	congenital disorder of glycosylation Ic Aliases: congenital disorder of glycosylation 1c	algn-6	182392	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:0110503	autosomal recessive nonsyndromic deafness 46 Aliases: DFNB46 autosomal recessive deafness 46	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:7475	diverticulitis	ARSA CHPT1 CLEC7A FOLR2	2350 410 56994 64581	Homo sapiens (human)
DOID:0050644	arterial calcification of infancy Aliases: generalized arterial calcification of infancy idiopathic infantile arterial calcification infantile arteriosclerosis	ENPP1 NT5E	4907 5167	Homo sapiens (human)
DOID:1227	neutropenia	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:1876	sexual dysfunction	ACE ALDH7A1 CYP19A1 CYP2B6 MDGA2 PGP	1555 1588 161357 1636 283871 501	Homo sapiens (human)
DOID:0112377	muscular dystrophy-dystroglycanopathy type B14 Aliases: MDDGB14 congenital muscular dystrophy GMPPB-related	GMPPB	29925	Homo sapiens (human)
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	St3gal3	20441	Mus musculus (house mouse)
DOID:13382	megaloblastic anemia Aliases: Grasbeck-Imerslund syndrome Imerslund-Grasbeck syndrome MGA1 Norwegian type RH-MGA1 megaloblastic anaemia recessive hereditary megaloblastic anaemia 1 recessive hereditary megaloblastic anemia 1	HPRT1 UMPS	3251 7372	Homo sapiens (human)

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