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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 **9201 - 9225** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
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: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: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:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	Alg8	293129	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: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:2773	contact dermatitis Aliases: Contact dermatitis/eczema Contact eczema Dermatitis, venenata dermatitis venenata	Cd46	29333	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:8481	rheumatic myocarditis Aliases: Rheumatic degeneration of myocardium Rheumatic fever with myocarditis Rheumatoid myocarditis active rheumatic fever with myocarditis acute rheumatic carditis acute rheumatic myocarditis	GSN ICAM1 SELE VCAM1	2934 3383 6401 7412	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050637	Finnish type amyloidosis Aliases: AGel amyloidosis AMYLOIDOSIS, MERETOJA TYPE Lattice corneal dystrophy type II gelsolin amyloidosis	GSN	2934	Homo sapiens (human)	Alliance of Genome Resources
DOID:9159	gas gangrene Aliases: Gas bacillus infection	GSN	2934	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080114	mitochondrial complex III deficiency nuclear type 5	Uqcrc2	293448	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060399	chromosome 16p12.1 deletion syndrome	Uqcrc2	293448	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111144	preterm premature rupture of the membranes Aliases: PPROM	Serpinh1 Tfpi	29345 29436	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110346	osteogenesis imperfecta type 10 Aliases: OI10 osteogenesis imperfecta type X	Serpinh1	29345	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111494	combined oxidative phosphorylation deficiency 4 Aliases: COXPD4	Tufm	293481	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112083	nuclear type mitochondrial complex I deficiency 2 Aliases: MC1DN2	Ndufs8	293652	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	B4gat1 Fkrp Fktn Pomgnt1 Pomt1 Pomt2 Rxylt1	293667 299841 308390 362520 362567 688673 84430	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	B4gat1 Fkrp Fktn Large1 Pomgnt1 Pomt1	293667 308390 361368 362520 362567 84430	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111238	congenital muscular dystrophy-dystroglycanopathy type A13 Aliases: MDDGA13 Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13	B4gat1	293667	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0090082	hypogonadotropic hypogonadism 20 with or without anosmia	Fgf17	29368	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080575	Larsen-like syndrome B3GAT3 type Aliases: Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	B3gat3	293722	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110965	brachydactyly type A2 Aliases: BDA2 Mohr-Wriedt type brachydactyly brachymesophalangy II	Bmp2	29373	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050591	tooth agenesis Aliases: familial tooth agenesis hypodontia oligodontia selective tooth agenesis	Bmp2	29373	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1790	malignant mesothelioma Aliases: Diffuse malignant Mesothelioma advanced malignant mesothelioma asbestos-related malignant mesothelioma malignant tumor of Mesothelium	Acvr1b Mcam	29381 78967	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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