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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 **1626 - 1650** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
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:106	pleural tuberculosis Aliases: Pearly disease Tuberculosis of pleura Tuberculous pleurisy Tuberculous pleuritis tuberculous pleurisy in primary progressive tuberculosis	Ccr5 Foxp3 Il1rn Il27 Mmp9 Tlr4 Tnc	12774 16181 17395 20371 21898 21923 246779	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111821	ichthyosis follicularis-alopecia-photophobia syndrome 1 Aliases: IFAP syndrome 1 IFAP syndrome 1 with or without BRESHECK syndrome ichthyosis follicularis-atrichia-photophobia syndrome 1	Mbtps2	270669	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050827	rheumatic heart disease Aliases: rheumatic carditis	ACTA2 BAX CD209 CD36 COL1A1 COL3A1 GAPDH HLA-DQA1 HLA-DQB1 HLA-DRB1 IL10 INHBA LEF1 MMP9 SNAI1 TWIST1 ZEB1	1277 1281 2597 30835 3117 3119 3123 3586 3624 4318 51176 581 59 6615 6935 7291 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070515	chromosome 16p11.2 deletion syndrome, 593-kb Aliases: Proximal 16p11.2 microdeletion syndrome	Rph3a Tufm	171039 293481	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14723	beta-ketothiolase deficiency Aliases: 2-methyl-3-hydroxybutyricacidemia 3-ketothiolase deficiency 3-oxothiolase deficiency Mitochondrial acetoacetyl-CoA Thiolase deficiency alpha-methylacetoaceticaciduria peroxisomal thiolase deficiency	Acat1	25014	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2215	factor VII deficiency Aliases: deficiency, stable	F7	2155	Homo sapiens (human)	Alliance of Genome Resources
DOID:13543	hyperparathyroidism	Casr Myc Trpv6	12374 17869 64177	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080269	autosomal dominant nonsyndromic deafness 73	Ptprq	237523	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060305	megalocornea Aliases: anterior megalophthalmos congenital anterior megalophthalmia	LTBP2	4053	Homo sapiens (human)	Alliance of Genome Resources
DOID:4661	multiple chemical sensitivity Aliases: 20th century disease chemical AIDS environmental illness idiopathic environmental illness total allergy syndrome	CYP2C19	1557	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050571	congenital disorder of glycosylation type II	ALG2 ATP6AP2 COG3 EDEM3 GALNT2 SLC35C1 SLC37A4 TMEM165	10159 2542 2590 55343 55858 80267 83548 85365	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0112209	developmental and epileptic encephalopathy 73 Aliases: DEE73 early infantile epileptic encephalopathy 73	C18B12.4	181600	Caenorhabditis elegans	Alliance of Genome Resources
DOID:9655	oral mucosa leukoplakia	Tp53	24842	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070294	primary autosomal recessive microcephaly 10 Aliases: MCPH10	ZNF335	63925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080465	developmental and epileptic encephalopathy 30 Aliases: DEE30 early infantile epileptic encephalopathy 30	SIK1	150094	Homo sapiens (human)	Alliance of Genome Resources
DOID:5082	liver cirrhosis Aliases: Cirrhosis cirrhosis of liver	Abcb11 Abcb4 Ace Adamts13 Adar Adipoq Ager Akap12 Azgp1 Ccl2 Cd163 Cd36 Csf1r Cygb Dnmt1 Drd4 Egfr Egr1 Entpd2 F2 F3 F5 Fbn1 Fgfr4 Flt1 Gclc Gdf1 Ggt1 Gli3 Glul Golm1 Gp1ba Gpc3 Gpt H2-Aa H2-Ab1 H2-Eb1 Hc Hfe Hp Icam1 Ifna11 Ifna12 Ifna13 Ifna16 Ifna1 Ifna4 Ifna9 Ifng Ifnl2 Igf1r Igf2 Il10 Il18bp Il21 Il27 Irf5 Itgb6 Itih4 Kdr Klkb1 Krt18 Krt8 Lbp Mbl2 Mmp1a Mmp2 Mpo Myc Nfe2l2 Nos3 Pdgfb Pdgfd Pdia3 Pecam1 Pgf Phkg2 Plaur Pnpla3 Ptgs2 Rbp4 Rela Reln Serpina1a Serpina1b Serpina1c Serpina1d Serpina1e Serpinh1 Slc6a4 Smo Sod2 Spag9 Spint1 Tfpi Tgfb1 Tgfb2 Thpo Tlr3 Tlr4 Tnf Vcam1 Vegfa Vegfc	105348 11421 11450 114886 11596 116939 12007 12406 12491 12496 12978 13433 13491 13649 13653 14061 14066 14067 14118 14186 14254 142980 14559 14598 14629 14634 14645 14723 14734 14827 14960 14961 14969 15139 15216 15439 15567 15894 15962 15964 15967 15972 15978 16001 16002 16068 16153 16420 16427 16542 16621 16668 16691 16803 17195 17390 17523 17869 18024 18127 18591 18613 18654 18670 18793 19225 19662 19697 19699 20296 20656 20700 20701 20702 20703 20704 20732 21788 21803 21808 21832 21898 21926 22329 22339 22341 230396 230398 242519 246779 27056 27413 279028 319757 330496 56417 60505 68961 70834 71785 76282 83397 83995 93671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050722	PHGDH deficiency Aliases: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY	PHGDH	26227	Homo sapiens (human)	Alliance of Genome Resources
DOID:8499	night blindness Aliases: nyctalopia	Nyx Rho	212541 236690	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110484	autosomal recessive nonsyndromic deafness 26 Aliases: DFNB26 autosomal recessive deafness 26	GAB1	2549	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110945	autosomal recessive osteopetrosis 6 Aliases: OPTB6 autosomal recessive osteopetrosis intermediate form	PLEKHM1	9842	Homo sapiens (human)	Alliance of Genome Resources
DOID:11476	osteoporosis	W01F3.2 acn-1 daf-2 dbl-1 pdfr-1 zmp-4	175410 175942 179068 179991 180351 180780	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0090044	dystonia 9	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110189	Leber congenital amaurosis 15 Aliases: LCA15	Tulp1	22157	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080054	achondrogenesis type IA Aliases: achondrogenesis Houston-Harris type	TRIP11	9321	Homo sapiens (human)	Alliance of Genome Resources

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