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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 **12551 - 12575** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:11981	morbid obesity Aliases: Severe obesity	ACSS2 AGER CCK CPE CTNNBL1 CYP2E1 GHRL HIF1A IL1RN LPIN1 MC4R MCHR1 NPPB NPY2R NTRK2	1363 1571 177 23175 2847 3091 3557 4160 4879 4887 4915 51738 55902 56259 885	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050975	spinocerebellar ataxia type 26	Eef2	13629	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1996	rectum adenocarcinoma Aliases: Rectal adenocarcinoma	Eef2 Kdm6a Slc7a5 Stat3 Stat6	13629 20539 20848 20852 22289	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3073	brain glioblastoma multiforme Aliases: Glioblastoma multiforme of brain brain Glioblastoma	Eef2 Ncam1	13629 17967	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070068	autosomal dominant intellectual developmental disorder 38 Aliases: MRD38 PRELDS autosomal dominant mental retardation 38 autosomal dominant non-syndromic intellectual disability 38 psychomotor retardation, epilepsy, and language disability syndrome	Eef1a2	13628	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080463	developmental and epileptic encephalopathy 33 Aliases: DEE33 early infantile epileptic encephalopathy 33	Eef1a1 Eef1a2	13627 13628	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070287	primary autosomal recessive microcephaly 11 Aliases: MCPH11	Phc1	13619	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050600	ABCD syndrome Aliases: ABCDS albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness	Ednrb	13618	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11372	megacolon Aliases: Dilatation of colon	Ednrb	13618	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110953	Waardenburg syndrome type 4A Aliases: WS4A Waardenburg syndrome type IVA Waardenburg syndrome with Hirschsprung disease type 4A	Ednrb	13618	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:900	hepatopulmonary syndrome	Ednrb Nos3 Tnf Vegfa	13618 18127 21926 22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9258	Waardenburg syndrome Aliases: Waardenburg Shah syndrome Waardenburg's syndrome van der Hoeve Halbertsona Waardenburg syndrome	Ednrb Kitl Mitf	13618 17311 17342	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060365	mandibulofacial dysostosis with alopecia Aliases: MFDA	Ednra	13617	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2228	thrombocytosis Aliases: Thrombocythaemia	CALR CPB2 MPL THPO	1361 4352 7066 811	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111665	ectodermal dysplasia 10B Aliases: ECTD10B ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive	Edar	13608	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111663	ectodermal dysplasia 10A Aliases: ECTD10A ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Edar	13608	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111664	ectodermal dysplasia 1 Aliases: CST syndrome Christ-Siemens-Touraine syndrome ED1 HED1 X-linked anhidrotic ectodermal dysplasia XHED XLHED ectodermal dysplasia 1, anhidrotic ectodermal dysplasia 1, hypohidrotic, X-linked ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked hypohidrotic ectodermal dysplasia, X-Linked	Eda	13607	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14793	hypohidrotic ectodermal dysplasia	Eda Edar	13607 13608	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14498	lipoid proteinosis Aliases: Lipid proteinosis URBACH-WIETHE DISEASE	Ecm1	13601	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111594	distal arthrogryposis type 5D Aliases: DA5D distal arthrogryposis type 5 without ophthalmoparesis distal arthrogryposis type 5 without ophthalmoplegia	Ecel1	13599	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050646	distal arthrogryposis Aliases: Arthrogryposis Multiplex Congenita	Adamts15 Ecel1 Fbn2 Met Myh13 Myh1 Myh2 Myh3 Myh4 Myh6 Myh7 Myh7b	13599 140781 14119 17295 17879 17882 17883 17884 17888 235130 544791 668940	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060292	X-linked chondrodysplasia punctata 1 Aliases: chondrodystrophia calcificans congenita	Ebp	13595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111865	MEND syndrome Aliases: male EBP disorder with neurological defects	Ebp	13595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2581	chondrodysplasia punctata Aliases: Chondrodysplasia punctata congenita	Ebp	13595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080352	X-linked chondrodysplasia punctata 2 Aliases: Conradi-Hunermann Syndrome Happle syndrome	Ebp	13595	Mus musculus (house mouse)	Alliance of Genome Resources

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