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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 **951 - 975** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0110556	autosomal dominant nonsyndromic deafness 27 Aliases: DFNA27 autosomal dominant deafness 27	REST	5978	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080428	developmental and epileptic encephalopathy 45 Aliases: DEE45 early infantile epileptic encephalopathy 45	Lcch3	32554	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112207	developmental and epileptic encephalopathy 71 Aliases: DEE71 early infantile epileptic encephalopathy 71 glutaminase deficiency with neonatal epileptic encephalopathy	Gls	24398	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110488	autosomal recessive nonsyndromic deafness 3 Aliases: DFNB3 NRSD3 autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3	MYO15A	51168	Homo sapiens (human)	Alliance of Genome Resources
DOID:182	calcinosis Aliases: Pathologically calcified structure pathologic calcification	Bmp4 Ctnnb1 Erbb2 Gpx1 Sparc Spp1	12159 12387 13866 14775 20692 20750	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112012	X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques Aliases: OLMSX X-linked Olmsted syndrome	MBTPS2	51360	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070387	developmental and epileptic encephalopathy 101 Aliases: DEE101 early infantile epileptic encephalopathy 101	grin1.L grin1.S	108699855 397953	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080745	polymyositis	Hgf Ifng Il4 Mmp9 Robo1 Slit2 Tnfrsf1a Tnfrsf1b	15234 15978 16189 17395 19876 20563 21937 21938	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080431	developmental and epileptic encephalopathy 19 Aliases: DEE19 early infantile epileptic encephalopathy 19	Grd	39984	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060822	syndromic X-linked intellectual disability Cabezas type Aliases: Cabezas syndrome; syndromic X-linked mental retardation 15 MRSS MRXS15 MRXSC X-linked mental retardation with short stature X-linked mental retardation with short stature, hypogonadism, and abnormal gait mental retardation, X-linked, syndromic 15 mental retardation, X-linked, syndromic 15 (Cabezas type)	CUL4B	8450	Homo sapiens (human)	Alliance of Genome Resources
DOID:1094	attention deficit hyperactivity disorder Aliases: ADHD attention deficit disorder hyperkinetic disorder	W01F3.2 dat-1 dop-1 mef-2 mgl-1 tbh-1 unc-38 unc-63 zmp-4	172105 172150 172732 176304 179991 180351 180714 181639 191707	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070344	ocular tuberculosis	Il10	16153	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060789	hypomyelinating leukodystrophy 4 Aliases: HLD4 MitCHAP60 disease Pelizaeus-Merzbacher-like disease due to HSPD1 mutation mitochondrial HSP60 chaperonopathy	Hspd1	63868	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060670	cerebral cavernous malformation 2	CCM2	83605	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080722	Kenny-Caffey syndrome type 1	PAC2	856724	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1924	hypogonadism	CYP11A1 EDN1 HSD3B1 IL6 KISS1R LEP PRKG1	1583 1906 3283 3569 3952 5592 84634	Homo sapiens (human)	Alliance of Genome Resources
DOID:9563	bronchiectasis Aliases: Polynesian bronchiectasis	CFTR MBL2 MMP9 TAP1 TNF	1080 4153 4318 6890 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050994	episodic ataxia type 6	Slc1a1 Slc1a3 Slc1a6	25550 29483 84012	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:13241	Behcet's disease Aliases: Adamantiades-Behcet disease Behcet syndrome Behet's syndrome triple symptom complex	ABCB1 ACE ADIPOQ CAT CCL2 CCR5 CD40LG CFB CPB2 CTLA4 CYP1A1 DHCR7 EDN1 F5 FAS FCGR3A HLA-B HLA-DMA HLA-DMB HLA-DQB1 HLA-DRB1 ICAM1 IFNG IL10 IL17A IL1RN IL21R IL23R IL2 IL4 IL6 ITGA2 ITGAM MBL2 MMP2 MMP9 NOD2 NOS3 PON1 PROZ SERPINE1 SLC11A1 SOD1 STAT3 STAT4 TGFB1 TLR2 TLR3 TLR4 TNF TNFRSF1A VEGFA VIM VWF	1234 1361 149233 1493 1543 1636 1717 1906 2153 2214 3106 3108 3109 3119 3123 3383 3458 355 3557 3558 3565 3569 3586 3605 3673 3684 4153 4313 4318 4846 5054 50615 5243 5444 629 6347 64127 6556 6647 6774 6775 7040 7097 7098 7099 7124 7132 7422 7431 7450 847 8858 9370 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080743	transverse myelitis	Aqp4	25293	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3803	Crigler-Najjar syndrome Aliases: Bilirubin UDP glucuronyl transferase deficiency Crigler Najjar syndrome Crigler-Najjar syndrome, type I	Ugt301D1 Ugt302K1 Ugt303A1 Ugt304A1 Ugt316A1 Ugt35A1 Ugt35C1 Ugt35E2 Ugt36A1 Ugt36D1 Ugt36E1 Ugt36F1 Ugt37A2 Ugt37A3 Ugt37B1 Ugt37C1 Ugt37D1 Ugt37E1 Ugt49B1 Ugt49B2	35105 35137 35138 35139 37420 40079 41334 41573 41574 42538 44058 53501 53502 53503 53506 53507 53511 53512 53583 53584	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:4450	renal cell carcinoma Aliases: RCC adenocarcinoma of kidney hypernephroma	Bsg Delta Egfr InR Jra Kdm4B Mdr49 Mdr65 Ogg1 Prat Sb Tsf2 dpp eag gbb htl sca scw shf tor	31617 31806 318841 318918 32428 33432 35717 36057 36411 36428 37455 37778 38726 39435 40935 41958 42160 42313 42549 46000	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14264	benign neonatal seizures Aliases: benign familial neonatal seizures benign neonatal convulsions	Atpalpha	48971	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1417	choroid disease	Il10	16153	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2339	Crouzon syndrome Aliases: Craniofacial Dysostosis	Fgfr2	14183	Mus musculus (house mouse)	Alliance of Genome Resources

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