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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 **10451 - 10475** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:3234	central nervous system lymphoma Aliases: Microglioma primary CNS lymphoma	Btk Cd79b Il10	12229 15985 16153	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5138	leiomyomatosis	Cd44 Fh1	12505 14194	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8881	rosacea Aliases: Acne roscea Acne, erythematosa	Mmp9	17395	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3963	thyroid gland carcinoma Aliases: head and neck cancer, Thyroid	Cd34 Cd93 Cdh5 Emcn Flt1 Flt4 Kdr Ptprb Robo4	12490 12562 14254 14257 16542 17064 19263 59308 74144	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4258	Weissenbacher-Zweymuller syndrome Aliases: Piere-Robin syndrome Pierre Robin Malformation	Acvr2a Tfrc	11480 22042	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	Adprs	100206	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080016	spina bifida	Gli2 Mthfd1 Ptch1 Zic3	108156 14633 19206 22773	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060759	immunodeficiency with hyper IgM type 5 Aliases: HIGM5 hyper-IgM syndrome 5 hyper-IgM syndrome due to UNG deficiency hyper-IgM syndrome due to uracil N-glycosylase	Ung	22256	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9248	Pallister-Hall syndrome	Gli3	14634	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9452	steatotic liver disease Aliases: Fatty change of liver SLD Steatosis of liver alcoholic fatty liver fatty liver disease hepatic lipidosis hepatic steatosis	Abca1 Abcc2 Abcc3 Acaca Acacb Adipoq Adrb2 Ahcy Ahcyl Alpl Apob Cd163 Cpe Cps1 Ctsb Dgat2 Fgfr1 G6pc1 Gck Ggt1 Gpt Gpx1 Hadha Hspa5 Htr2a Htr2b Il10 Il13ra2 Ins1 Ins2 Insr Ldlr Lep Lrp6 Mc4r Nfkb1 Nox4 Pnpla3 Ppara Pparg Ppargc1a Ptgs2 Rela Sec63 Slco1a4 Ucp2	100705 103988 107476 11303 11450 11555 11615 11647 116939 12780 12876 13030 140740 14182 14377 14598 14775 14828 15558 15559 16153 16165 16333 16334 16337 16835 16846 16974 17202 18033 19013 19016 19017 19225 19697 22228 227231 238055 269378 28250 50490 67800 76282 76408 93671 97212	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110153	Charcot-Marie-Tooth disease type 1E Aliases: CMT1E Charcot-Marie-Tooth disease and deafness Charcot-Marie-Tooth disease demyelinating type 1E Charcot-Marie-Tooth disease-deafness autosomal dominant Charcot-Marie-Tooth neuropathy and deafness	Pmp22	18858	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111621	Temtamy syndrome Aliases: Temtamy-Shalash syndrome craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome dysmorphism, corpus callosum agenesis and colobomas	Grcc10	14790	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110068	frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Aliases: FTDALS3	Sqstm1	18412	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060917	facioscapulohumeral muscular dystrophy 3 Aliases: FSHD3 facioscapulohumeral muscular dystrophy type 3	Lrif1	321000	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111664	ectodermal dysplasia 1 Aliases: CST syndrome Christ-Siemens-Touraine syndrome ED1 HED1 X-linked anhidrotic ectodermal dysplasia XHED XLHED ectodermal dysplasia 1, anhidrotic ectodermal dysplasia 1, hypohidrotic, X-linked ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked hypohidrotic ectodermal dysplasia, X-Linked	Eda	13607	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111508	Torrance type platyspondylic dysplasia Aliases: PLSD-T PLSDT lethal short-limbed platyspondylic dwarfism, Torrance type platyspondylic dysplasia, Torrance-Luton type platyspondylic lethal skeletal dysplasia, Torrance type thanatophoric dysplasia, Torrance variant	Col2a1	12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060825	Christianson syndrome Aliases: MRXSCH X-linked Angelman-like syndrome X-linked intellectual disability, South African type X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome mental retardation, X-linked syndromic, Christianson type mental retardation, microcephaly, epilepsy, and ataxia syndrome	Slc9a6	236794	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14176	selective IgG deficiency disease Aliases: Immunoglobin G subclass deficiency Selective IgG Immunodeficiency Selective Immunoglobulin G Subclass deficiency Selective deficiency of IgG Selective immunoglobulin G deficiency	Ifng	15978	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1891	optic nerve disease Aliases: disorder of the second nerve optic nerve disorder optic neuropathy	Ager	11596	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8584	Burkitt lymphoma Aliases: Burkitt lymphoma/leukaemia Burkitt's Lymphoma Burkitt's tumor Burkitt's tumor or lymphoma malignant lymphoma, Burkitt's type small Non-Cleaved cell Lymphoma, Burkitt's type	Btk Calr Cd40 Cd79b Myc	12229 12317 15985 17869 21939	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080047	pseudoachondroplasia Aliases: SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC pseudoachondroplastic dysplasia	Comp	12845	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112194	Filippi syndrome Aliases: Scott craniodigital syndrome with mental retardation type 1 syndactyly-microcephaly-intellectual disability syndrome	Ckap2l	70466	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112249	GAPO syndrome Aliases: growth delay-alopecia-pseudoanodontia-optic atrophy syndrome	Antxr1	69538	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080448	developmental and epileptic encephalopathy 48 Aliases: DEE48 early infantile epileptic encephalopathy 48	Ap3b2	11775	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8725	vascular dementia Aliases: Multi Infarct Dementia multifocal dementia	Atp5f1a Avp Bdnf Epo Fgfr1 Flt1 Gclm Gpx1 Grin1 Grin2a Grin2b Gsk3b Hspa1a Igf1r Mapt Mmp2 Mtor Nefl Nox1 Pon2 Rps6 Snca Sncg Srebf2 Tnf Trp53	11946 11998 12064 13856 14182 14254 14630 14775 14810 14811 14812 16001 17390 17762 18039 193740 20104 20617 20618 20788 21926 22059 237038 330260 56637 56717	Mus musculus (house mouse)	Alliance of Genome Resources

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