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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 **11301 - 11325** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0081262	intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	TNPO1	3842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	PIG-B	38446	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:10112	sleeping sickness Aliases: African sleeping sickness African trypanosomiasis	PIG-B	38446	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110117	autoimmune lymphoproliferative syndrome type 4 Aliases: ALPS type 4 ALPS type IV ALPS4 RALD RAS-associated autoimmune leukoproliferative disease RAS-associated autoimmune leukoproliferative disorder autoimmune lymphoproliferative syndrome type IV	KRAS NRAS	3845 4893	Homo sapiens (human)	Alliance of Genome Resources
DOID:8683	myeloid sarcoma Aliases: Chloroma Extramedullary Myeloid tumor Granulocytic sarcoma	CCR2 KRAS PDGFRA	3845 5156 729230	Homo sapiens (human)	Alliance of Genome Resources
DOID:3078	anaplastic astrocytoma Aliases: grade III Astrocytic tumor grade III astrocytoma	KRAS POLE	3845 5426	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060233	cardiofaciocutaneous syndrome Aliases: CFC syndrome cardio-facial-cutaneous syndrome	KRAS MAP2K1	3845 5604	Homo sapiens (human)	Alliance of Genome Resources
DOID:4927	Klatskin's tumor Aliases: Klatskin tumor Klatskin tumour Klatskin's tumour Perihilar extrahepatic bile duct carcinoma hilar cholangiocarcinoma hilar cholangiocellular carcinoma	ARID1A KMT2C KRAS PREX2	3845 58508 80243 8289	Homo sapiens (human)	Alliance of Genome Resources
DOID:7235	pancreatic mucinous cystadenoma Aliases: pancreatic mucinous cystic neoplasm	KRAS	3845	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111461	cardiofaciocutaneous syndrome 2 Aliases: CFC2	KRAS	3845	Homo sapiens (human)	Alliance of Genome Resources
DOID:6726	fibrillary astrocytoma Aliases: Fibrillary Astrocytic tumors	KRAS	3845	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111705	oculoectodermal syndrome Aliases: Toriello-Lacassie-Droste syndrome aplasia cutis congenita-epibulbar dermoids syndrome	KRAS	3845	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081110	keratosis palmoplantaris striata 3	KRT1	3848	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081358	epidermolytic hyperkeratosis 1	KRT1	3848	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060877	bullous congenital ichthyosiform erythroderma Aliases: bullous type ichthyosis ichthyosis bullosa of Siemens superficial epidermolytic ichthyosis	KRT2	3849	Homo sapiens (human)	Alliance of Genome Resources
DOID:4644	epidermolysis bullosa simplex	CD151 DST KRT5 MMP9 PLEC	3852 4318 5339 667 977	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060735	epidermolysis bullosa simplex Dowling-Meara type Aliases: EBS-gen sev EBSDM epidermolysis bullosa herpetiformis Dowling-Meara type epidermolysis bullosa simplex, herpetiformis generalized severe epidermolysis bullosa simplex	KRT5	3852	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111346	epidermolysis bullosa simplex with mottled pigmentation Aliases: EBSMP Epidermolysis bullosa simplex-MP speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering	KRT5	3852	Homo sapiens (human)	Alliance of Genome Resources
DOID:3635	congenital myasthenic syndrome	nAChRalpha1 nAChRalpha2 nAChRbeta1 nAChRbeta2	38545 42918 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060684	autosomal dominant nocturnal frontal lobe epilepsy 3 Aliases: ENFL3 nocturnal frontal lobe epilepsy 3	nAChRalpha1 nAChRalpha2 nAChRbeta1 nAChRbeta2	38545 42918 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110662	congenital myasthenic syndrome 1B Aliases: CMS1B congenital myasthenic syndrome 1B, fast-channel	nAChRalpha1 nAChRalpha2 nAChRbeta1 nAChRbeta2	38545 42918 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110663	congenital myasthenic syndrome 1A Aliases: CMS IIa CMS1A congenital myasthenic syndrome 1A, slow-channel congenital myasthenic syndrome type IIa	nAChRalpha1 nAChRalpha2 nAChRbeta1 nAChRbeta2	38545 42918 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome Aliases: multiple pterygium syndrome	nAChRalpha1 nAChRalpha2 nAChRbeta1 nAChRbeta2	38545 42918 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081359	epidermolytic hyperkeratosis 2	KRT10	3858	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081288	white sponge nevus 2	KRT13	3860	Homo sapiens (human)	Alliance of Genome Resources

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