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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	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **6751 - 6775** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080802	autosomal recessive craniometaphyseal dysplasia	Gja1	14609	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080472	developmental and epileptic encephalopathy 91 Aliases: infantile or early childhood epileptic encephalopathy 1	Ppp3ca	19055	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080056	achondrogenesis type II	Col2a1	12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080735	Ehlers-Danlos syndrome kyphoscoliotic type 2	Fkbp14	231997	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3179	inverted papilloma Aliases: Inverted papilloma, squamous cell	Hgf Kdr Vegfa	15234 16542 22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111908	thrombophilia due to thrombomodulin defect Aliases: THBD-related bleeding disorder THBD-related coagulopathy THPH12 thrombomodulin-related bleeding disorder thrombomodulin-related coagulopathy	Thbd	21824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070004	myeloid neoplasm	Cbl Cd36 F3 Fgfr1 Gpx1	12402 12491 14066 14182 14775	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110529	autosomal recessive nonsyndromic deafness 84A Aliases: DFNB84A autosomal recessive deafness 84A autosomal recessive deafness 84A with vestibular dysfunction	Ptprq	237523	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2477	motor peripheral neuropathy Aliases: HSMN HSMN - Hereditary sensory and motor neuropathy Hereditary motor and sensory neuropathy Peripheral Motor Neuropathy neuropathic muscular atrophy	Slc12a6	107723	Mus musculus (house mouse)	Alliance of Genome Resources
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)	Alliance of Genome Resources
DOID:0080545	hyper IgE syndrome Aliases: hyper immunoglobulin E syndrome	Il6ra	16194	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13832	patent ductus arteriosus Aliases: Patent ductus Botalli	Acta1 Acta2 Actb Actbl2 Actc1 Actg1 Tfap2b	11459 11461 11464 11465 11475 21419 238880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1067	open-angle glaucoma Aliases: Wide-angle glaucoma glaucoma simplex open angle glaucoma pigmentary glaucoma	Adrb2 Apoc3 Il10 Il2 Myoc Pon1 Tnf	11555 11814 16153 16183 17926 18979 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112252	glutathione synthetase deficiency of erythrocytes Aliases: glutathione synthetase deficiency without 5-oxoprolinuria	Gss	14854	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081001	Cowden syndrome 5	Pik3ca	18706	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10247	pleurisy	Bdkrb1 Bdkrb2 Ccl11 Csf3 Elane Esr1 Icam1 Il15 Il17a Il1rn Pla2g6 Ptafr Ptgs2 Tnf	12061 12062 12985 13982 15894 16168 16171 16181 19204 19225 20292 21926 50701 53357	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070131	autosomal dominant cutis laxa 3 Aliases: ADCL3	Aldh18a1	56454	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	Large1	16795	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10611	protein-losing enteropathy Aliases: Enteropathy, exudative Exudative enteropathy	Cd55 Cd55b	13136 13137	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14365	systemic primary carnitine deficiency disease Aliases: carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect	Slc22a21 Slc22a5	20520 56517	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112024	non-syndromic X-linked intellectual disability 58 Aliases: MRX58 X-linked mental retardation 58	Tspan7	21912	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4677	keratitis	Tlr2 Tlr4	21898 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060488	Pitt-Hopkins syndrome	Cntnap2 Tcf12 Tcf4	21406 21413 66797	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110283	autosomal recessive limb-girdle muscular dystrophy type 2J Aliases: LGMD2J muscular dystrophy, limb-girdle, type 2J	Ttn	22138	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4606	bile duct cancer Aliases: Ca extrahepatic bile ducts bile duct tumor malignant neoplasm of the extrahepatic bile duct	Apob Tjp1	21872 238055	Mus musculus (house mouse)	Alliance of Genome Resources

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