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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 **12826 - 12850** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0111662	ectodermal dysplasia 14 Aliases: ECTN14 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	TSPEAR	54084	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110540	autosomal recessive nonsyndromic deafness 98 Aliases: DFNB98 autosomal recessive deafness 98	TSPEAR	54084	Homo sapiens (human)	Alliance of Genome Resources
DOID:10533	viral pneumonia	CCL11 TLR9	54106 6356	Homo sapiens (human)	Alliance of Genome Resources
DOID:10690	mastitis Aliases: Inflammatory breast disease Inflammatory disease of breast breast inflammation	TLR4 TLR9	54106 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110813	hereditary spastic paraplegia 62 Aliases: SPG62 autosomal recessive spastic paraplegia 62 autosomal recessive spastic paraplegia type 62	erlin1	541490	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0081144	common variable immunodeficiency 1	Icos	54167	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060290	Ohdo syndrome, SBBYS variant Aliases: Say-Barber-Biesecker-Young-Simpson syndrome blepharophimosis-intellectual disability syndrome, SBBYS type	Kat6b	54169	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080576	spondyloepimetaphyseal dysplasia, Genevieve-type	NANS	54187	Homo sapiens (human)	Alliance of Genome Resources
DOID:4033	bacterial gastritis	TREM1	54210	Homo sapiens (human)	Alliance of Genome Resources
DOID:0040085	bacterial sepsis	TREM1	54210	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect Aliases: methylmalonic acidemia, TCblR type methylmalonic aciduria due to transcobalamin receptor defect	Cd320	54219	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111834	X-linked reticulate pigmentary disorder Aliases: Partington disease X-linked reticulate pigmentary disorder with systemic manifestations	POLA1	5422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111840	Van Esch-O'Driscoll syndrome Aliases: MRXSVEOD VEODS X-linked intellectual disability, Van Esch type X-linked syndromic mental retardation Van Esch-O'Driscoll type	POLA1	5422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111062	familial hypobetalipoproteinemia 1 Aliases: FHBL1	Apob	54225	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4606	bile duct cancer Aliases: Ca extrahepatic bile ducts bile duct tumor malignant neoplasm of the extrahepatic bile duct	Apob	54225	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111061	familial hypobetalipoproteinemia 2 Aliases: FHBL2 combined familial hypolipidemia	Apob	54225	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080348	Alzheimer's disease 1 Aliases: Alzheimer's disease 1, early onset	App	54226	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070028	APP-related cerebral amyloid angiopathy Aliases: Amyloidosis, Cerebroarterial, App-Related Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Arctic Variant Cerebral Amyloid Angiopathy, App-Related, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Flemish Variant Cerebral Amyloid Angiopathy, App-Related, Iowa Variant Cerebral Amyloid Angiopathy, App-Related, Italian Variant HCHWAD	App	54226	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy Aliases: ENFL	Chrnb2	54239	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060684	autosomal dominant nocturnal frontal lobe epilepsy 3 Aliases: ENFL3 nocturnal frontal lobe epilepsy 3	Chrnb2	54239	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110665	congenital myasthenic syndrome 3B Aliases: CMS3B congenital myasthenic syndrome 3B, fast-channel	Chrnd	54240	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110666	congenital myasthenic syndrome 3A Aliases: CMS3A congenital myasthenic syndrome 3A, slow-channel	Chrnd	54240	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110664	congenital myasthenic syndrome 3C Aliases: congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency	Chrnd	54240	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081182	autosomal recessive intellectual developmental disorder 6	Grik2	54257	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:218	ascending colon cancer Aliases: Ca ascending colon malignant neoplasm of right colon malignant tumor of ascending colon	POLE RNF43	5426 54894	Homo sapiens (human)	Alliance of Genome Resources

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