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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 **2276 - 2300** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:4877	breast adenoid cystic carcinoma Aliases: Mammary Adenocystic carcinoma	ACACA PIK3CA PTEN	31 5290 5728	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:5468	biliary papillomatosis Aliases: bile duct papillomatosis	HK1	3098	Homo sapiens (human)
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:0111061	familial hypobetalipoproteinemia 2 Aliases: FHBL2 combined familial hypolipidemia	Angptl3	30924	Mus musculus (house mouse)
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	Fut2 Sec1	308586 58924	Rattus norvegicus (Norway rat)
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: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: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:0050598	extrapulmonary tuberculosis	CD209	30835	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:496	spindle cell hemangioma Aliases: SCH	ANXA5 IDH1 IDH2 PRKAA2 PTGS1 PTGS2	308 3417 3418 5563 5742 5743	Homo sapiens (human)
DOID:780	placenta disease	ANXA5 HSD11B2 PRSS8	308 3291 5652	Homo sapiens (human)
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:2565	macular corneal dystrophy Aliases: Fehr corneal dystrophy MACULAR DYSTROPHY, CORNEAL, 1	Chst5	307859	Rattus norvegicus (Norway rat)
DOID:0080490	mucolipidosis type IV	HEXA	3073	Homo sapiens (human)
DOID:1580	diffuse scleroderma Aliases: diffuse systemic sclerosis systemic sclerosis, diffuse	ADIPOQ CAT HEXA PTEN TLR2	3073 5728 7097 847 9370	Homo sapiens (human)
DOID:13137	Werdnig-Hoffmann disease Aliases: HMN (Hereditary motor Neuropathy) Proximal type I SMA1 Spinal muscular atrophy 1 hereditary motor neuropathy proximal type I infantile muscular atrophy progressive muscular atrophy of infancy	APRT HEXA HSPG2	3073 3339 353	Homo sapiens (human)
DOID:0060160	childhood spinal muscular atrophy Aliases: spinal muscular atrophies of childhood survival motor neuron spinal muscular atrophy	APRT HEXA HSPG2	3073 3339 353	Homo sapiens (human)
DOID:12376	juvenile spinal muscular atrophy Aliases: Kugelberg-Welander disease SMA3 Spinal Muscular Atrophy Type 3 Type III Spinal Muscular Atrophy	APRT HEXA HSPG2	3073 3339 353	Homo sapiens (human)
DOID:746	adenomatoid tumor Aliases: adenomatoid tumour benign localised epithelial Mesothelioma benign localized epithelial Mesothelioma	ANXA4 L1CAM	307 3897	Homo sapiens (human)
DOID:0110242	cataract 13 with adult i phenotype Aliases: CTRCT13	Gcnt2	306860	Rattus norvegicus (Norway rat)
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	306549	Rattus norvegicus (Norway rat)
DOID:0111235	congenital muscular dystrophy-dystroglycanopathy type A12 Aliases: MDDGA12 Walker-Warburg syndrome or muscle-eye-brain disease POMK-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12	Pomk	306549	Rattus norvegicus (Norway rat)

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