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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 **3326 - 3350** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:161	keratosis	pxn-1 pxn-2	181288 191484	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0090110	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Aliases: Autoimmune enteropathy type 1 DMSD IDDM-secretory diarrhea syndrome IPEX X-linked autoimmunity-allergic dysregulation syndrome XLAAD XPID autoimmunity-immunodeficiency syndrome, X-linked diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked immunodeficiency, polyendocrinopathy, and enteropathy, X-linked immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked	Foxp3	20371	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111249	uveal coloboma-cleft lip and palate-intellectual disability Aliases: COB1 Uveal coloboma-cleft lip/palate-mental retardation syndrome coloboma-microphthalmos syndrome coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation	YAP1	10413	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060556	Kufor-Rakeb syndrome Aliases: autosomal recessive Parkinson disease 9 autosomal recessive juvenile onset Parkinson disease 9	Atp13a2 Atp13a3 Atp13a5	224088 268878 74772	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081327	neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures Aliases: NEDAMSS	Irf2bp2 Irf2bpl	238330 270110	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060737	junctional epidermolysis bullosa Herlitz type Aliases: Herlitz type epidermolysis bullosa junctionalis Herlitz-Pearson-type epidermolysis bullosa JEB-H JEB-Herlitz type epidermolysis bullosa letalis junctional epidermolysis bullosa generalisata gravis junctional epidermolysis bullosa, Herlitz-Pearson type	ina-1	176296	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1520	colon carcinoma Aliases: Colonic carcinoma carcinoma of colon	F47E1.2	181145	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111337	Jackson-Weiss syndrome Aliases: JWS craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome	fgfr1.L fgfr1.S	397782 399444	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0070058	Helsmoortel-Van Der Aa Syndrome Aliases: HVDAS MRD28 autosomal dominant mental retardation 28	Adnp	11538	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080074	neural tube defect	Cripto Lrp6 Mthfd1	108156 16974 21667	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112199	spondyloepimetaphyseal dysplasia with joint laxity type 2 Aliases: SEMD-MD SEMDJL2 spondyloepimetaphyseal dysplasia with joint laxicity, Hall type spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type	KIF22	3835	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070377	developmental and epileptic encephalopathy 96 Aliases: DEE96	Nsf	18195	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081181	autosomal recessive intellectual developmental disorder 5	NSUN2	54888	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060041	autism spectrum disorder	BUD2 CHD1 NHX1 SEC12 STE20 YAK1	852066 853300 853770 855760 856382 856911	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050175	tick-borne encephalitis Aliases: Central European encephalitis Far Eastern TBE Russian spring-summer encephalitis Siberian tick-borne encephalitis Taiga encephalitis Western European tick-borne encephalitis west-Siberian encephalitis	CD40 CD40LG	958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:1405	primary angle-closure glaucoma Aliases: primary Angle Closure Glaucoma	Acvr1	79558	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050985	spinocerebellar ataxia type 38	ELOVL5	60481	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	Cd40lg Fut2 Pon1 Sec1	308586 58924 84024 84349	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112318	Schindler disease type 1 Aliases: NAGA deficiency type 1 alpha-N-acetylgalactosaminidase deficiency type 1	Naga	315165	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111666	proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Aliases: EPV Fowler syndrome Fowler vasculopathy PVHH cerebral proliferative glomeruloid vasculopathy encephaloclastic proliferative vasculopathy hydranencephaly, Fowler type hydrocephaly/hydranencephaly due to cerebral vasculopathy proliferative vasculopathy and hydranencephaly/hydrocephaly	Slc7a2 Slc7a3	29485 64554	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:83	cataract	gcnt2.2 pon2	100038221 448598	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:10976	membranous glomerulonephritis Aliases: membranous nephropathy	Nep1 Nep4 Tsf2	31547 39435 42449	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080764	hereditary diffuse gastric cancer	cdh1	114424	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:14330	Parkinson's disease Aliases: Parkinson disease paralysis agitans	ace-1 ace-3 acr-3 cat-1 daf-2 dop-1 dop-2 eat-4 gba-1 gba-2 gba-3 gba-4 glit-1 ida-1 let-23 parp-1 pgk-1 ptc-1 smf-1 smf-2 smf-3 tbh-1 unc-38 unc-63 vglu-2 vglu-3	171965 172105 172150 173574 174274 174462 175076 175410 175807 176291 176441 176442 177044 177314 178535 179347 180714 180747 180837 180937 180939 181639 181706 183155 191766 266823	Caenorhabditis elegans	Alliance of Genome Resources
DOID:12217	Lewy body dementia Aliases: Dementia with Lewy bodies Diffuse Lewy body disease Lewy body disease Senile dementia of the Lewy body type	InR nAChRalpha2 nAChRalpha6 nAChRbeta2	34304 42549 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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