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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 **5651 - 5675** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0080490	mucolipidosis type IV	HEXA	3073	Homo sapiens (human)
DOID:2565	macular corneal dystrophy Aliases: Fehr corneal dystrophy MACULAR DYSTROPHY, CORNEAL, 1	Chst5	307859	Rattus norvegicus (Norway rat)
DOID:0090016	chromosome 5q deletion syndrome Aliases: 5q- syndrome, refractory macrocytic anemia due to 5q deletion myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	ANXA5 CD14 CD74 HMMR	308 3161 929 972	Homo sapiens (human)
DOID:780	placenta disease	ANXA5 HSD11B2 PRSS8	308 3291 5652	Homo sapiens (human)
DOID:496	spindle cell hemangioma Aliases: SCH	ANXA5 IDH1 IDH2 PRKAA2 PTGS1 PTGS2	308 3417 3418 5563 5742 5743	Homo sapiens (human)
DOID:0111052	Scott syndrome Aliases: BDPLT7 SCTS bleeding abnormality due to deficiency of platelet biding of factor X familial prothrombin consumption inhibitor familial prothrombin conversion defect platelet-type bleeding disorder 7 prothrombin consumption deficiency	ANXA5	308	Homo sapiens (human)
DOID:0050598	extrapulmonary tuberculosis	CD209	30835	Homo sapiens (human)
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	308390	Rattus norvegicus (Norway rat)
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	308390	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	308390	Rattus norvegicus (Norway rat)
DOID:11724	limb-girdle muscular dystrophy Aliases: Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy	Fkrp	308390	Rattus norvegicus (Norway rat)
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	Fut2 Sec1	308586 58924	Rattus norvegicus (Norway rat)
DOID:0111061	familial hypobetalipoproteinemia 2 Aliases: FHBL2 combined familial hypolipidemia	Angptl3	30924	Mus musculus (house mouse)
DOID:14250	Down syndrome Aliases: Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome	Pofut2	309686	Rattus norvegicus (Norway rat)
DOID:5468	biliary papillomatosis Aliases: bile duct papillomatosis	HK1	3098	Homo sapiens (human)
DOID:4682	extrahepatic bile duct carcinoma Aliases: carcinoma of extrahepatic bile duct extrahepatic bile duct cancer	HK2 PIK3CA PTEN PTGS2	3099 5290 5728 5743	Homo sapiens (human)
DOID:4877	breast adenoid cystic carcinoma Aliases: Mammary Adenocystic carcinoma	ACACA PIK3CA PTEN	31 5290 5728	Homo sapiens (human)
DOID:1252	trichuriasis Aliases: Infection by Trichuris trichura Trichuriasis infection Whipworm disease trichuris trichiura infection	ACACA	31	Homo sapiens (human)
DOID:2433	epidermal appendage tumor Aliases: neoplasm of skin with adnexal differentiation neoplasm of the skin Appendage skin appendage tumour	ACACA	31	Homo sapiens (human)
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	rumi tw	31024 326122	Drosophila melanogaster (fruit fly)
DOID:9884	muscular dystrophy	CG15651 Dg rt tw	31024 36773 37375 39297	Drosophila melanogaster (fruit fly)
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	Dg Gmppb rt tw	31024 36773 39297 40599	Drosophila melanogaster (fruit fly)
DOID:0050453	lissencephaly	Dg rt tw	31024 36773 39297	Drosophila melanogaster (fruit fly)
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	CG15651 CG3253 rt tw	31024 37375 37861 39297	Drosophila melanogaster (fruit fly)
DOID:0112380	muscular dystrophy-dystroglycanopathy type B2 Aliases: MDDGB2 congenital muscular dystrophy POMT2-related	tw	31024	Drosophila melanogaster (fruit fly)

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