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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 **6751 - 6775** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:13381	pernicious anemia Aliases: ANEMIA PERNICIOUS Addison's anaemia Biermer's anaemia Biermer's anemia pernicious anaemia	Cblif	29319	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050734	congenital intrinsic factor deficiency Aliases: hereditary intrinsic factor deficiency	Cblif	29319	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	Alg8	293129	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050570	congenital disorder of glycosylation type I	Alg12 Alg1 Alg5 Alg6 Alg8 Alg9 Dpm1 Mpi	293129 295051 296394 300741 315212 360475 362547 367083	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111437	optic atrophy 7 Aliases: OPA7 optic atrophy 7 with or without auditory neuropathy	Tmem126a	293113	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2219	Glanzmann's thrombasthenia Aliases: BDPLT2 Glanzmann thrombasthenia Glycoprotein IIb/IIIa defect Thrombocytasthenia deficiency of GP IIb-IIIa complex deficiency of glycoprotein complex IIb-IIIa deficiency of platelet fibrinogen receptor platelet glycoprotein IIb-IIIa deficiency platelet-type bleeding disorder 2 thrombasthenia of Glanzmann and Naegeli	Itgb3	29302	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060691	platelet-type bleeding disorder 16 Aliases: autosomal dominant Glanzmann thrombasthenia autosomal dominant thrombasthenia of Glanzmann and Naegeli	Itgb3	29302	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080335	mitochondrial DNA depletion syndrome 12b	SLC25A6	293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111517	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 Aliases: PEOA2 autosomal dominant progressive external ophthalmoplegia 2	SLC25A6	293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	Chsy1	292999	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060358	multiple acyl-CoA dehydrogenase deficiency Aliases: MAD deficiency MADD electron transfer flavoprotein deficiency electron transfer flavoprotein ubiquinone oxidoreductase deficiency glutaric acidemia type 2 glutaric aciduria type 2	Etfa Etfb Etfdh	292845 295143 300726	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110456	dilated cardiomyopathy 1R Aliases: CMD1R	Actc1	29275	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110110	atrial heart septal defect 5 Aliases: ASD5 atrial septal defect 5	Actc1	29275	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110317	hypertrophic cardiomyopathy 11 Aliases: CMH11 cardiomyopathy familial hypertrophic 11	Actb Actc1	29275 81822	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081112	Baraitser-Winter syndrome 1	Acta1 Actb Actc1	29275 29437 81822	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:13832	patent ductus arteriosus Aliases: Patent ductus Botalli	Acta1 Actb Actc1	29275 29437 81822	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110550	autosomal dominant nonsyndromic deafness 20 Aliases: DFNA20 DFNA26 autosomal dominant deafness 20	Acta1 Actb Actc1	29275 29437 81822	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:13099	Moyamoya disease Aliases: progressive intracranial arterial occlusion	Acta1 Actb Actc1	29275 29437 81822	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070063	autosomal dominant intellectual developmental disorder 33 Aliases: MRD33 autosomal dominant mental retardation 33 autosomal dominant non-syndromic intellectual disability 33	Dpp6	29272	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4258	Weissenbacher-Zweymuller syndrome Aliases: Piere-Robin syndrome Pierre Robin Malformation	Acvr2a Tfrc	29263 64678	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3883	Lynch syndrome Aliases: COCA 1 HNPCC - hereditary nonpolyposis colon cancer Hereditary Defective Mismatch Repair syndrome Hereditary non-polyposis colon cancer Hereditary non-polyposis colon cancer syndrome Hereditary non-polyposis colorectal cancer Hereditary non-polyposis colorectal cancer syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colon cancer syndrome Hereditary nonpolyposis colorectal cancer syndrome hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal neoplasm	Acvr2a Tgfbr1 Tgfbr2	29263 29591 81810	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10690	mastitis Aliases: Inflammatory breast disease Inflammatory disease of breast breast inflammation	Tlr4	29260	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4677	keratitis	Tlr4	29260	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1214	tympanosclerosis	Enpp1 Tlr4	29260 85496	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050073	invasive aspergillosis	Cxcr3 Tlr4	29260 84475	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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