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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 **8151 - 8175** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0060936	dystonia 28 childhood-onset Aliases: DYSTONIA 28, CHILDHOOD-ONSET DYT28	KMT2B	9757	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080598	Kleefstra syndrome 2	KMT2C KMT2D	58508 8085	Homo sapiens (human)	Alliance of Genome Resources
DOID:903	gastrointestinal lymphoma	KMT2D	8085	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080232	autosomal dominant intellectual developmental disorder 51 Aliases: autosomal dominant mental retardation 51	KMT5B	51111	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111676	high molecular weight kininogen deficiency Aliases: Fitzgerald trait HMWK deficiency congenital high-molecular-weight kininogen deficiency	KNG1	3827	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070291	primary autosomal recessive microcephaly 4 Aliases: MCPH4	KNL1	57082	Homo sapiens (human)	Alliance of Genome Resources
DOID:8866	actinic keratosis Aliases: SK - Solar keratosis Senile hyperkeratosis Solar keratosis actinic (Solar) Keratosis	KNSTRN OCA2 TGFB1	4948 7040 90417	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: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:3078	anaplastic astrocytoma Aliases: grade III Astrocytic tumor grade III astrocytoma	KRAS POLE	3845 5426	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:0111650	ectodermal dysplasia 13 Aliases: ECTD13 ectodermal dysplasia 13, hair/tooth type	KREMEN1	83999	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: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
DOID:0050448	white sponge nevus Aliases: hereditary mucosal leukokeratosis white sponge nevus of Cannon	KRT13	3860	Homo sapiens (human)	Alliance of Genome Resources
DOID:2121	ectodermal dysplasia Aliases: Congenital ectodermal defect Congenital ectodermal dysplasia	KRT17 NECTIN1 WNT10A	3872 5818 80326	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050449	pachyonychia congenita Aliases: Jackson-Lawler Type Pachyonychia Congenita Jadassohn-Lewandowsky Syndrome PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE Pachyonychia Congenita Type 1	KRT17	3872	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111556	steatocystoma multiplex Aliases: multiple sebaceous cysts sebocystomatosis	KRT17	3872	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:0111574	autosomal recessive woolly hair 3 Aliases: ARWH3	KRT25	147183	Homo sapiens (human)	Alliance of Genome Resources

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