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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 **6851 - 6875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0060572	Ritscher-Schinzel syndrome 2	CCDC22	28952	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080042	autosomal recessive spinocerebellar ataxia 18 Aliases: SCAR18	GRID2	2895	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112066	nuclear type mitochondrial complex I deficiency 6 Aliases: MC1DN6	Ndufs2	289218	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060536	mitochondrial complex I deficiency Aliases: isolated NADH-CoQ reductase deficiency isolated NADH-coenzyme Q reductase deficiency isolated NADH-ubiquinone reductase deficiency isolated mitochondrial respiratory chain complex I deficiency	Ndufs1 Ndufs2 Ndufs4	289218 301458 499529	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:655	inherited metabolic disorder Aliases: Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder	Ndufs1 Ndufs2 Slc22a5 Uqcrb	289218 29726 301458 362897	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060823	syndromic X-linked intellectual disability 94 Aliases: MRX94 MRXS29 mental retardation, X-linked 94 syndromic X-linked intellectual disability due to GRIA3 anomalies syndromic X-linked mental retardation 29 syndromic X-linked mental retardation Wu type	GRIA3	2892	Homo sapiens (human)	Alliance of Genome Resources
DOID:5418	schizoaffective disorder	GRIA1	2890	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081235	autosomal recessive intellectual developmental disorder 76	GRIA1	2890	Homo sapiens (human)	Alliance of Genome Resources
DOID:1107	esophageal carcinoma Aliases: cancer of esophagus cancer of oesophagus carcinoma of esophagus carcinoma of oesophagus	GRB7 SLC7A5 STAT3	2886 6774 8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050922	gastrointestinal carcinoma	GRB7 NOD2	2886 64127	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111030	hemochromatosis type 3 Aliases: HFE3 TFR2-related hemochromatosis hemochromatosis due to defect in transferrin receptor 2	Tfr2	288562	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111642	autosomal recessive nonsyndromic deafness 114 Aliases: DFNB114 autosomal recessive deafness 114	GRB2	2885	Homo sapiens (human)	Alliance of Genome Resources
DOID:9255	frontotemporal dementia Aliases: Wilhemsen-Lynch disease frontotemporal lobar degeneration multiple system tauopathy with presenile dementia pallidopontonigral degeneration	Bace2 Grn Nefl Ubqln2	288227 29143 317396 83613	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	Poglut1	288091	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	Krt5 Pofut1 Poglut1	288091 311551 369017	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081202	autosomal recessive intellectual developmental disorder 37	ANK3	288	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080556	congenital disorder of glycosylation Id Aliases: congenital disorder of glycosylation 1d	Alg3	287983	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10590	mild pre-eclampsia	GPX3	2878	Homo sapiens (human)	Alliance of Genome Resources
DOID:11996	spermatic cord torsion Aliases: Torsion of testicle Torsion of testis testicular Torsion	GPX3	2878	Homo sapiens (human)	Alliance of Genome Resources
DOID:3572	intracranial sinus thrombosis	GPX3	2878	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080797	nasal type extranodal NK/T-cell lymphoma	ABCB1 CD274 FAS GPX3 PRDM1 STAT3	2878 29126 355 5243 639 6774	Homo sapiens (human)	Alliance of Genome Resources
DOID:7941	Barrett's adenocarcinoma Aliases: Barrett adenocarcinoma adenocarcinoma Arising in Barrett's Mucosa	GPX3 GPX7	2878 2882	Homo sapiens (human)	Alliance of Genome Resources
DOID:285	hairy cell leukemia	GPX1 IL1RN	2876 3557	Homo sapiens (human)	Alliance of Genome Resources
DOID:1099	alpha thalassemia Aliases: Alpha thalassaemia alpha-Thalassemia	GPX1 HBA1 HBA2 HBB HP	2876 3039 3040 3043 3240	Homo sapiens (human)	Alliance of Genome Resources
DOID:9507	ethmoid sinusitis Aliases: ethmoidal sinusitis ethmoiditis	Ccl7	287561	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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