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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 **6251 - 6275** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111431	essential tremor 4 Aliases: ETM4 hereditary essential tremor 4	Fus	233908	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	grd-2	180349	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1287	cardiovascular system disease Aliases: disease of subdivision of hemolymphoid system	Apob Ccl2 Cd40lg Crp Enpp1 Fgb Gipr Gys1 Hp Lipg Plaur Pparg Ppargc1a Ptgs2	24366 24464 24770 25024 25419 25664 291437 29527 50692 54225 690987 83516 84349 85496	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:7736	retinal telangiectasia	kdr vegfaa	30682 554230	Danio rerio (zebrafish)	Alliance of Genome Resources
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	79147	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:14323	Marfan syndrome Aliases: Marfan's syndrome	MUS81	851994	Saccharomyces cerevisiae S288C	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	348980	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070517	retinal macular dystrophy 2 Aliases: MCDR2	promL	38372	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111487	combined oxidative phosphorylation deficiency 7 Aliases: COXPD7 severe C12ORF65-related COXPD severe C12ORF65-related combined oxidative phosphorylation defect	MTRFR	91574	Homo sapiens (human)	Alliance of Genome Resources
DOID:6688	autoimmune lymphoproliferative syndrome Aliases: ALPS Canale-Smith syndrome	FAS FASLG	355 356	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080158	herpes simplex virus keratitis Aliases: dendritic keratitis	Il1rn Tlr4	16181 21898	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060358	multiple acyl-CoA dehydrogenase deficiency Aliases: MAD deficiency MADD electron transfer flavoprotein deficiency electron transfer flavoprotein ubiquinone oxidoreductase deficiency glutaric acidemia type 2 glutaric aciduria type 2	ETFB	2109	Homo sapiens (human)	Alliance of Genome Resources
DOID:3526	cerebral infarction Aliases: CVA - Cerebral infarction Cerebral infarct	ace pon2	100144634 448598	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0110076	arrhythmogenic right ventricular dysplasia 8 Aliases: ARVC8 ARVD8 arrhythmogenic right ventricular cardiomyopathy 8 familial arrhythmogenic right ventricular dysplasia 8	DSP	1832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060680	pigment dispersion syndrome Aliases: glaucoma-related pigment dispersion syndrome pigment-dispersion type glaucoma	COL18A1 GPNMB	10457 80781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111542	familial expansile osteolysis Aliases: FEO McCabe disease hereditary expansile polyostotic osteolytic dysplasia	Tnfrsf11a	21934	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080730	Ehlers-Danlos syndrome cardiac valvular type	Col1a2	12843	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081151	common variable immunodeficiency 8 Aliases: common variable immunodeficiency-8 (CVID8) with autoimmunity	Lrba	80877	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:162	cancer Aliases: malignant neoplasm malignant tumor primary cancer	notch1 ppp1cb ppp1cc tpi1	100037842 100038162 407879 496958	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0081424	familial focal epilepsy with variable foci 4	Scn3a	497770	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081154	common variable immunodeficiency 12	NFKB1	4790	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060902	Norman-Roberts syndrome Aliases: lissencephaly 2 lissencephaly syndrome, Norman-Roberts type	Reln	19699	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112050	non-syndromic X-linked intellectual disability 63 Aliases: ACSL4-related intellectual disability MRX63 MRX68 X-linked mental retardation 63 X-linked mental retardation 68	ACSL3 ACSL4	2181 2182	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111136	congenital generalized lipodystrophy type 2 Aliases: Berardinelli-Seip congenital lipodystrophy type 2 Berardinelli-Seip syndrome Brunzell syndrome BSCL2-related CGL2 congenital lipoatrophic diabetes total lipodystrophy and acromegaloid gigantism	Bscl2 Pparg	14705 19016	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111866	trichothiodystrophy Aliases: TTD	Aars1	234734	Mus musculus (house mouse)	Alliance of Genome Resources

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