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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 **2601 - 2625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0080592	Klippel-Feil syndrome 4	MYO18B	84700	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060488	Pitt-Hopkins syndrome	Cntnap2 Tcf12 Tcf4	21406 21413 66797	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080908	Cockayne syndrome B Aliases: Cockayne syndrome 2 Cockayne syndrome type II	ERCC6	2074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080384	nephrotic syndrome type 6	Ptpro	19277	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060367	Parkinson's disease 1 Aliases: autosomal dominant Parkinson disease 1 autosomal dominant Parkinson's disease 1	Snca	20617	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070302	multiple epiphyseal dysplasia 7 Aliases: EDM7	CANT1	124583	Homo sapiens (human)	Alliance of Genome Resources
DOID:3635	congenital myasthenic syndrome	chrne.L	386670	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0050847	sleep apnea	Lepr Serpine1	24536 24617	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110790	hereditary spastic paraplegia 39 Aliases: NTE-related motor neuron disorder NTEMND SPG39 autosomal recessive spastic paraplegia 39 autosomal recessive spastic paraplegia type 39 spastic paraplegia due to NTE mutation spastic paraplegia due to neuropathy target esterase mutation	PNPLA6	10908	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080171	esophageal atresia/tracheoesophageal fistula Aliases: esophageal atresia and/or tracheoesophageal fistula tracheoesophageal fistula with or without esohageal atresia	GLI2 NOG SHH	2736 6469 9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:8483	retinal artery occlusion	Il10	16153	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4074	pancreatic adenocarcinoma Aliases: pancreas adenocarcinoma	Adgrb1 Akt3 Cxcr4 Hrg Map2k1 Nfkb1 Plat Vegfc	107831 12767 18033 18791 22341 23797 26395 94175	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4644	epidermolysis bullosa simplex	Cd151 Krt5 Mmp9	369017 64315 81687	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2044	drug-induced hepatitis Aliases: Drug-induced chronic hepatitis	mrp-1 mrp-2 mrp-7	180289 180408 180409	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112136	severe congenital neutropenia 4 Aliases: Dursun syndrome SCN4 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome	G6pc3	303565	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9279	hyperhomocysteinemia	ace-1 ace-2 glr-1 glr-2 gpx-3 gpx-5 gspd-1 nep-11 nep-1	171905 173685 174787 175999 176204 178046 181178 181706 182513	Caenorhabditis elegans	Alliance of Genome Resources
DOID:11725	Cornelia de Lange syndrome Aliases: Brachmann de Lange syndrome De Lange syndrome	SMC3	853371	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:11105	fundus albipunctatus Aliases: Pigmentary retinal dystrophy retinitis punctata albescens	Mfrp Prph2 Rho	19133 212541 259172	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110486	autosomal recessive nonsyndromic deafness 28 Aliases: DFNB28 autosomal recessive deafness 28	TRIOBP	11078	Homo sapiens (human)	Alliance of Genome Resources
DOID:12129	bulimia nervosa Aliases: hyperorexia nervosa	COMT	1312	Homo sapiens (human)	Alliance of Genome Resources
DOID:9146	visceral leishmaniasis Aliases: Infection by visceral leishmaniasis Kala-Azar	CCR3 CD163 CSF2 HLA-DQA1 IL10 IL2RB LTA MBL2 NFE2L2 SLC11A1 TNF	1232 1437 3117 3560 3586 4049 4153 4780 6556 7124 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111462	cardiofaciocutaneous syndrome 3 Aliases: CFC3	Map2k1	26395	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081355	congenital myopathy 22B	scn4aa scn4ab	564977 572442	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050989	episodic ataxia type 1	KCNA10 KCNA1 KCNA2 KCNA3 KCNA4 KCNA7	3736 3737 3738 3739 3743 3744	Homo sapiens (human)	Alliance of Genome Resources
DOID:3507	dermatofibrosarcoma protuberans	Col1a1 Pdgfb	12842 18591	Mus musculus (house mouse)	Alliance of Genome Resources

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