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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 **11376 - 11400** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0060264	pontocerebellar hypoplasia Aliases: PCH	Toe1	68276	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14757	Ehlers-Danlos syndrome hypermobility type Aliases: Ehlers-Danlos syndrome, type 3 type III Ehlers-Danlos syndrome	Col3a1	12825	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111296	generalized epilepsy with febrile seizures plus 10 Aliases: GEFS+10 GEFSP10 generalised epilepsy with febrile seizures plus 10 generalised epilepsy with febrile seizures plus type 10 generalized epilepsy with febrile seizures plus type 10	Hcn1	15165	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4467	clear cell renal cell carcinoma Aliases: Clear cell carcinoma of kidney clear cell kidney carcinoma conventional (Clear cell) renal cell carcinoma conventional renal cell carcinoma renal clear cell carcinoma	Ackr3 Ager Bax Cxcr4 Ddr1 Eng Ep300 F2 Fto Igf1r Mmp12 Myc Pdgfb Pml Setd2 Trp53	11596 12028 12305 12767 12778 13805 14061 16001 17381 17869 18591 18854 22059 235626 26383 328572	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4376	milk allergy Aliases: milk allergic reaction	Il13	16163	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050800	cerebral creatine deficiency syndrome 1 Aliases: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 SLC6A8 deficiency creatine transporter deficiency	Slc6a8	102857	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080328	Culler-Jones syndrome	Gli2	14633	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080346	blepharocheilodontic syndrome 2	Ctnnd1	12388	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090088	hypogonadotropic hypogonadism 24 without anosmia Aliases: isolated follicle-stimulating hormone deficiency	Fshb	14308	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8544	chronic fatigue syndrome Aliases: CFS Myalgic encephalitis Myalgic encephalomyelitis Postviral fatigue syndrome	Ccl24 Cd28 Cxcl9 H2-Aa Il16 Prf1 Ren1 Serpinf1 Slc6a4 Trpc6 Vegfa	12487 14960 15567 16170 17329 18646 19701 20317 22068 22339 56221	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110943	autosomal recessive osteopetrosis 2 Aliases: OPTB2 mild autosomal recessive form osteopetrosis osteoclast-poor osteopetrosis	Tnfsf11	21943	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080998	acute necrotizing pancreatitis	Calca Ccl2 Cd46 Cd59a Cd59b Ctsb Icam1 Il17a Il1rn Mmp2 Pdx1 Rela Selp Serpinf2 Serping1 Tacr1 Tlr2 Tlr4 Tlr9	12258 12310 12509 13030 15894 16171 16181 17221 17390 18609 18816 19697 20296 20344 21336 21898 24088 333883 81897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070529	Sifrim-Hitz-Weiss syndrome Aliases: CHD4 Neurodevelopmental Disorder CHD4-related neurodevelopmental disorder CHD4-related neurodevelopmental syndrome SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME SIHIWES	Chd4	107932	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081126	DeSanto-Shinawi syndrome Aliases: Chromosome 10p12-p11 deletion syndrome Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome	Wac	225131	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:57	aortic valve insufficiency Aliases: Rheumatic aortic insufficiency Rheumatic aortic regurgitation Rheumatic aortic valve regurgitation aortic incompetence aortic insufficiency aortic regurgitation rheumatic aortic valve insufficiency	Mbl2	17195	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1283	enterocele Aliases: vaginal enterocele	Aldh18a1	56454	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111839	congenital disorder of glycosylation Icc Aliases: congenital disorder of glycosylation type Icc	Magt1	67075	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080317	megalencephalic leukoencephalopathy with subcortical cysts 2B Aliases: megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation	Hepacam	72927	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080977	aortic valve disease 3	Robo4	74144	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10939	antisocial personality disorder Aliases: Asocial personality Dissocial personality disorder Psychopath.personality Psychopathic personality Psychopathic personality disorder sociopathic personality	Abcb1a Abcb1b Drd4 Htr1b	13491 15551 18669 18671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11151	cholecystolithiasis	Ugt1a1	394436	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112045	non-syndromic X-linked intellectual disability 93 Aliases: MRX93 X-linked mental retardation 93 X-linked mental retardation with macrocephaly	Brwd3	382236	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112010	pituitary adenoma 3 Aliases: PITA3 pituitary adenoma 3, multiple types	Gnas	14683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110946	autosomal recessive osteopetrosis 7 Aliases: OPTB7 autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia autosomal recessive osteopetrosis type 7 osteoclast-poor osteopetrosis with hypogammaglobulinemia osteopetrosis-hypogammaglobulinemia syndrome	Tnfrsf11a	21934	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13078	eumycotic mycetoma Aliases: Madura foot Maduromycosis, mycotic Mycotic mycetoma eumycetoma maduromycosis	Comt	12846	Mus musculus (house mouse)	Alliance of Genome Resources

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