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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 **501 - 525** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0110865	congenital stationary night blindness 1B Aliases: CSNB1B autosomal recessive complete congenital stationary night blindness congenital stationary night blindness 1B autosomal recessive	mgl-1	191707	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060366	Hennekam syndrome Aliases: Hennekam lymphangiectasia-lymphedema syndrome lymphedem-lymphangiectasia-intellectual disability syndrome	ft	33627	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081321	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A Aliases: Autosomal dominant multiple pterygium syndrome	Myh3	17883	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2747	glycogen storage disease Aliases: glycogenosis	CG7766 Glut1 Glyp Glys Gyg Pfk	31839 33386 36060 37419 38109 41823	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110970	brachydactyly type C Aliases: BDC	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:178	vascular disease Aliases: vascular tissue disease	ADIPOQ CPS1 GLO1 IL1RN TIMP1	1373 2739 3557 7076 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060582	Noonan syndrome 4 Aliases: NS4	CDC25	851019	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:11832	visual epilepsy Aliases: epilepsy, visual	Abcc2 Abcc8 Adamts1 App Bad Drd3 Eno2 Epo Erbb4 Fas Fcgr2a Fcgr2al1 Fcgr2b Fcgr3a Fgfr1 Gabbr1 Glud1 Gria1 Grik5 Grm8 Hcn1 Hcn2 Hrh3 Ifng Kcna1 Kcnj11 Mecp2 Nfe2l2 Ngfr Npy5r Pcsk1 Pdgfb Ptgs2 Ptprz1 Scn2b Slc38a1 Slc38a2 Slc38a3 Slc6a11 Smo Spp1 Syt1 Tacr3 Tnf Tnfrsf1a Tnfrsf1b Vdac1 Vdac2 Vip	114244 116591 117064 156767 170567 24334 24335 24399 24407 24520 24596 246097 24628 24808 24835 25204 25273 252919 25303 25340 25349 25353 25559 25613 25625 25712 25716 289211 29238 29386 29527 29642 304966 498276 50592 54226 59323 60590 64639 79114 79213 79252 81657 83529 83531 83535 83619 84390 85268	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070384	developmental and epileptic encephalopathy 98 Aliases: DEE98 early infantile epileptic encephalopathy 98	ATP1A2	477	Homo sapiens (human)	Alliance of Genome Resources
DOID:12117	pulmonary alveolar microlithiasis	Slc34a2	84395	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4990	essential tremor Aliases: benign essential tremor essential hereditary tremor shaky hand syndrome	DRD3 MAPT	1814 4137	Homo sapiens (human)	Alliance of Genome Resources
DOID:4465	papillary renal cell carcinoma Aliases: Chromophil carcinoma of kidney papillary kidney carcinoma sporadic papillary renal cell carcinoma	Met Prcc	17295 94315	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N Aliases: LGMD2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related	pomt2	100490100	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:12466	secondary hyperparathyroidism	Abcg2 Casr Eng Kl Ptgs2 Tnfrsf11b	12374 13805 16591 18383 19225 26357	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8472	localized scleroderma Aliases: Morphea Scleroderma, circumscribed or localised Scleroderma, circumscribed or localized circumscribed scleroderma localised morphea localised morphoea localised scleroderma localized morphea	Hgf Icam1 Il13 Tgfb1	116553 24446 25464 59086	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050788	proximal symphalangism Aliases: Cushing's symphalangism	nog1 nog3	30173 30174	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050934	ovarian clear cell carcinoma Aliases: clear-cell ovarian carcinoma	ARID1A	8289	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080786	Brown-Vialetto-Van Laere syndrome 2	SLC52A2	79581	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110165	Charcot-Marie-Tooth disease type 2E Aliases: CMT2E Charcot-Marie-Tooth neuropathy type 2E autosomal dominant Charcot-Marie-Tooth disease type 2E	NEFL	4747	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080312	neurodevelopmental disorder with midbrain and hindbrain malformations Aliases: NEDMHM	Arhgef2	16800	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070263	congenital disorder of glycosylation type IIk Aliases: CDG IIk CDG syndrome type IIk CDG2K CDGIIdk Carbohydrate deficient glycoprotein syndrome type IIk Congenital disorder of glycosylation type 2k TMEM165-CDG	TMEM165	55858	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111667	enterokinase deficiency Aliases: congenital enterokinase deficiency congenital enteropathy due to enteropeptidase deficiency deficiency of enteropeptidase	Tmprss15	19146	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111492	combined oxidative phosphorylation deficiency 32 Aliases: COXPD32	MRPS34	65993	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050548	hereditary sensory neuropathy Aliases: familial dysautonomia, type II hereditary sensory and autonomic neuropathy	para shot	32619 36542	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110372	retinitis pigmentosa 4 Aliases: RP4	ninaE	42367	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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