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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 **7976 - 8000** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:10933	obsessive-compulsive disorder Aliases: Anancastic neurosis obsessive compulsive disorder	Bdnf Comt Creb1 Gdnf Htr2a Slc6a4	24225 24267 25453 25553 29595 81646	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111535	progressive osseous heteroplasia Aliases: POH ectopic ossification familial type familial ectopic ossification osteoma cutis	dbl-1 ost-1	176931 179068	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050469	Costello syndrome Aliases: FCS SYNDROME Faciocutaneoskeletal Syndrome	HRAS	3265	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050860	colorectal adenoma	Ezh2 F5 Fos Jun Ptch1 Selenop Smad4 Tnfrsf1a Ttr Txnrd3	14056 14067 14281 16476 17128 19206 20363 21937 22139 232223	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10456	tonsillitis Aliases: Throat infection - tonsillitis chronic tonsillitis	Igfbp3	16009	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:988	mitral valve prolapse Aliases: Barlow's syndrome floppy mitral valve	Acer Ance ds	33245 34189 34805	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1391	Norum disease Aliases: LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY lecithin acyltransferase deficiency	LRO1	855742	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0081177	autosomal recessive intellectual developmental disorder 1	Prss12	19142	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112219	developmental and epileptic encephalopathy 84 Aliases: DEE84 Jamuar syndrome early infantile epileptic encephalopathy 84	UGDH	7358	Homo sapiens (human)	Alliance of Genome Resources
DOID:3963	thyroid gland carcinoma Aliases: head and neck cancer, Thyroid	cdh5 kdr	445471 554230	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110871	congenital stationary night blindness 2A Aliases: congenital stationary night blindness 2A X-linked	cacna1fb	559964	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	Ac76E Axn Hcf N Sap130 Ser apolpp kis tld tok trx	31293 33185 39455 40180 41737 42944 42945 43275 43565 43788 43827	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111458	galactose epimerase deficiency Aliases: GALE deficiency GALE-D UDP-galactose-4-epimerase deficiency epimerase deficiency galactosemia galactosemia III galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency	GAL10	852307	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	Pomgnt1	68273	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111805	syndromic microphthalmia 6 Aliases: Bakrania-Ragge syndrome MCOPS6 anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia microphthalmia and pituitary anomalies microphthalmia with brain and digit anomalies syndromic microphthalmia type 6	dpp	33432	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2152	ovary epithelial cancer Aliases: Ovarian Surface epithelial-Stromal tumor	AKAP6 ASPM BRD7 CCR3 DAXX FUBP1 KIF1B NME1 PLK1 PLK3 PTGES RUNX3 SPARC SRSF3 TAB2	1232 1263 1616 23095 23118 259266 29117 4830 5347 6428 6678 864 8880 9472 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:6612	leukocyte adhesion deficiency Aliases: Congenital leukocyte adherence deficiency	ITGB2	3689	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110391	retinitis pigmentosa 31 Aliases: RP31	Topors	106021	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080333	aortic valve disease 1	ENPP1 IL6 NOTCH1	3569 4851 5167	Homo sapiens (human)	Alliance of Genome Resources
DOID:2736	Hajdu-Cheney syndrome Aliases: Cheney syndrome HJCYS SFPKS acroosteolysis with osteoporosis and changes in skull and mandible arthrodentoosteodysplasia serpentine fibula-polycystic kidney syndrome	NOTCH2	4853	Homo sapiens (human)	Alliance of Genome Resources
DOID:3073	brain glioblastoma multiforme Aliases: Glioblastoma multiforme of brain brain Glioblastoma	Fas2	31364	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:8483	retinal artery occlusion	F5 IL10 IL6 LPA	2153 3569 3586 4018	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090014	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive Aliases: autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID	CORO1A JAK3	11151 3718	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111907	thrombophilia due to thrombin defect Aliases: THPH1 prothrombin-related thrombophilia thrombophilia due to factor 2 defect	F13a1	60327	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:654	overnutrition	Nos3	18127	Mus musculus (house mouse)	Alliance of Genome Resources

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