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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 **7526 - 7550** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111404	Jalili syndrome Aliases: Cone rod dystrophy-amelogenesis imperfecta syndrome cone-rod dystrophy and amelogenesis imperfecta	cnnm-1 cnnm-3	178499 180591	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	ALG10 ALG10B DYNC2H1 KLC2 LRP5 MTO1 PPIP5K2 USH2A WFS1	144245 23262 25821 4041 64837 7399 7466 79659 84920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111729	familial episodic pain syndrome 1 Aliases: FEPS1	TRPA1	8989	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	C14B9.8 daf-4 kpc-1	173051 175781 176149	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0090144	Donnai-Barrow syndrome Aliases: DBS/FOAR syndrome FOAR syndrome Holmes-Schepens syndrome diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria diaphragmatic hernia-exomphalos-hypertelorism syndrome diaphragmatic hernia-hypertelorism-myopia-deafness syndrome facio-oculo-acoustico-renal syndrome faciooculoacousticorenal syndrome syndrome of ocular and facial anomalies, telecanthus and deafness	Lrp2	29216	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080789	Treacher Collins syndrome 1	Tcof1	21453	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10 Aliases: MDDGA10 Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10	rxylt1	557187	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080179	haemophilus meningitis	Fcgr2a Fcgr2al1 Fcgr2b	116591 289211 498276	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070281	primary autosomal recessive microcephaly 19 Aliases: MCPH19	COPB2	9276	Homo sapiens (human)	Alliance of Genome Resources
DOID:178	vascular disease Aliases: vascular tissue disease	cri-2	179197	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111428	essential tremor 1 Aliases: ETM1 hereditary essential tremor 1	Dop2R	33007	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110321	hypertrophic cardiomyopathy 15 Aliases: CMH15 cardiomyopathy familial hypertrophic 15	Vcl	22330	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110457	dilated cardiomyopathy 1Y Aliases: CMD1Y	Tpm1	24851	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060751	familial temporal lobe epilepsy 7 Aliases: ETL7	Reln	19699	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2223	platelet storage pool deficiency Aliases: Dense body defect Platelet dense granule deficiency Platelet storage pool defect	APL5 APL6	853177 855906	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:10487	Hirschsprung's disease Aliases: Hirschsprung disease aganglionic megacolon congenital megacolon macrocolon pelvirectal achalasia total intestinal aganglionosis	gfra1	100125202	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:14654	prostatitis	Bambi Ccl11 Il10 Ptgs2 Smad4	16153 17128 19225 20292 68010	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3649	pyruvate decarboxylase deficiency Aliases: deficiency of pyruvic dehydrogenase pyruvate dehydrogenase complex deficiency disease pyruvate dehydrogenase deficiency	Dlat Pc Pdha1 Pdha2 Pdhb	117098 25104 289950 29554 81654	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110741	type 1 diabetes mellitus 2 Aliases: IDDM2 Insulin-Dependent Diabetes Mellitus 2	Hk2 Igf2 Ins1 Ins2	15277 16002 16333 16334	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	Pomgnt2	215494	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111108	maturity-onset diabetes of the young type 10 Aliases: MODY10	Ins1 Ins2	16333 16334	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10286	prostate carcinoma Aliases: cancer of prostate carcinoma of prostate	AKT2 ANGPT1 ATF4 AZGP1 BAD BAX BMP2 BMP4 CASP6 CDK13 CGA CHI3L1 CRKL EIF3H HDAC2 HDAC3 IGF1R INHA JUN MET MKI67 NME1 PDGFD PLK1 PRKCA SARS1 SKP2 SPINT1 SPP1 STAT3 STAT6 TMBIM6	1081 1116 1399 208 284 3066 3480 3623 3725 4233 4288 468 4830 5347 5578 563 572 581 6301 650 6502 652 6692 6696 6774 6778 7009 80310 839 8621 8667 8841	Homo sapiens (human)	Alliance of Genome Resources
DOID:11044	gastroschisis	daf-2 ver-1	175182 175410	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1073	renal hypertension	Hsc70-4	41840	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9884	muscular dystrophy	fkrp fktn pomgnt1 pomt1 pomt2	100006345 563878 569769 571426 571876	Danio rerio (zebrafish)	Alliance of Genome Resources

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