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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	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4451 - 4475** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria Aliases: bilateral temporooccipital polymicrogyria	FIG4	9896	Homo sapiens (human)
DOID:0060589	Yunis-Varon syndrome Aliases: cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia cleidocranial dysplasia-micrognathia-absent thumbs syndrome	FIG4	9896	Homo sapiens (human)
DOID:0060202	amyotrophic lateral sclerosis type 11 Aliases: ALS11 amyotrophic lateral sclerosis 11	FIG4	9896	Homo sapiens (human)
DOID:14766	renal agenesis Aliases: hereditary renal aplasia hereditary urogenital adysplasia renal adysplasia renal aplasia	FKRP FKTN FREM1 GFRA1 GPC3 LARGE1 PIGN PIGP PIGQ POMT1 POMT2 SLC2A4	10585 158326 2218 23556 2674 2719 29954 51227 6517 79147 9091 9215	Homo sapiens (human)
DOID:0060305	megalocornea Aliases: anterior megalophthalmos congenital anterior megalophthalmia	FKRP FKTN GMPPB GNPTAB LARGE1 POMGNT1 POMK POMT1 POMT2 SLC2A10	10585 2218 29925 29954 55624 79147 79158 81031 84197 9215	Homo sapiens (human)
DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5 Aliases: MDDGA5 Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	FKRP	79147	Homo sapiens (human)
DOID:0112379	muscular dystrophy-dystroglycanopathy type B4 Aliases: MDDGB4 congenital muscular dystrophy FKTN-related	FKTN	2218	Homo sapiens (human)
DOID:0050719	cerebral folate receptor alpha deficiency Aliases: Neurodegeneration due to cerebral folate transport deficiency	FOLR1 FOLR2	2348 2350	Homo sapiens (human)
DOID:4724	brain edema Aliases: intracranial swelling wet brain	FPS1	850683	Saccharomyces cerevisiae S288C
DOID:0111405	Fraser syndrome 1 Aliases: FRASRS1	FREM1 NT5E	158326 4907	Homo sapiens (human)
DOID:9307	rectal prolapse Aliases: Procidentia, rectum	FREM1 PTEN	158326 5728	Homo sapiens (human)
DOID:628	combined T cell and B cell immunodeficiency Aliases: Congenital Combined Immunodeficiency	FUT1 IL18R1 PGK1 PGM3 PIK3CD PNP	2523 4860 5230 5238 5293 8809	Homo sapiens (human)
DOID:0060013	X-linked severe combined immunodeficiency Aliases: SCID-X1 XSCID gamma chain deficiency thymic epithelial hypoplasia	FUT1 IL18R1 PGK1	2523 5230 8809	Homo sapiens (human)
DOID:0111083	Fanconi anemia complementation group D2 Aliases: FA4 FAD2 FANCD2 Fanconi pancytopenia type 4	FUT1 NTHL1	2523 4913	Homo sapiens (human)
DOID:10604	lactose intolerance Aliases: LM - Lactose malabsorption	FUT2 GLB1 LCT PGM3 SI	2524 2720 3938 5238 6476	Homo sapiens (human)
DOID:0060191	gastroduodenal Crohn's disease Aliases: upper GI Crohn's disease	FUT2 LYZ PLA2G1B PLA2G2A PLA2G6 PLB1	151056 2524 4069 5319 5320 8398	Homo sapiens (human)
DOID:0060188	jejunoileitis	FUT2 LYZ PLA2G1B PLA2G2A PLA2G6 PLB1	151056 2524 4069 5319 5320 8398	Homo sapiens (human)
DOID:5353	colonic disease Aliases: colon disorder	FUT2	2524	Homo sapiens (human)
DOID:611	obsolete leukocyte-adhesion deficiency syndrome	FUT4	2526	Homo sapiens (human)
DOID:13381	pernicious anemia Aliases: ANEMIA PERNICIOUS Addison's anaemia Biermer's anaemia Biermer's anemia pernicious anaemia	FUT6 GAD2	2528 2572	Homo sapiens (human)
DOID:5204	fructose-1,6-bisphosphatase deficiency Aliases: fructose 1 phosphate aldolase deficiency fructose-1,6-diphosphatase deficiency	Fbp1	14121	Mus musculus (house mouse)
DOID:5204	fructose-1,6-bisphosphatase deficiency Aliases: fructose 1 phosphate aldolase deficiency fructose-1,6-diphosphatase deficiency	Fbp1	24362	Rattus norvegicus (Norway rat)
DOID:0110635	muscular dystrophy-dystroglycanopathy type B5 Aliases: FKRP-related congenital muscular dystrophy MDC1C MDDGB5 congenital muscular dystrophy 1C muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5	Fkrp	243853	Mus musculus (house mouse)
DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5 Aliases: MDDGA5 Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	Fkrp	243853	Mus musculus (house mouse)
DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I Aliases: LGMD2I Limb-girdle muscular dystrophy due to FKRP deficiency MDDGC5 muscular dystrophy limb-girdle type 2I muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related	Fkrp	243853	Mus musculus (house mouse)

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