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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **951 - 975** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0060990	congenital disorder of deglycosylation 2	MAN2C1	4123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060992	bent bone dysplasia syndrome 1	FGFR2	2263	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060993	bent bone dysplasia syndrome 2	LAMA5	3911	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060994	encephalopathy due to defective mitochondrial and peroxisomal fission 2	MFF	56947	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060997	rhabdoid tumor predisposition syndrome 2 Aliases: RTPS2	SMARCA4	6597	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060998	striatal degeneration 2	PDE10A	10846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060999	mitochondrial trifunctional protein deficiency 2 Aliases: MTPD2	HADHB	3032	Homo sapiens (human)	Alliance of Genome Resources
DOID:0061001	glycine encephalopathy 2 Aliases: GCE2	AMT	275	Homo sapiens (human)	Alliance of Genome Resources
DOID:0061002	congenital amegakaryocytic thrombocytopenia 2	THPO	7066	Homo sapiens (human)	Alliance of Genome Resources
DOID:0061003	pancreatic agenesis 1	PDX1	3651	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070004	myeloid neoplasm	CBL FGFR1 GPX1 MECOM	2122 2260 2876 867	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070005	Seckel syndrome 9 Aliases: SCKL9	TRAIP	10293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070007	Seckel syndrome 1 Aliases: SCKL1 microcephalic primordial dwarfism I	ATR	545	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070011	Seckel syndrome 7 Aliases: SCKL7	NIN	51199	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070012	Seckel syndrome 5 Aliases: SCKL5	CEP152	22995	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070013	Seckel syndrome 2 Aliases: SCKL2 Seckel-type dwarfism 2 microcephalic primordial dwarfism 2	RBBP8	5932	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070016	autosomal dominant dyskeratosis congenita 2 Aliases: DKCA2	TERT	7015	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070023	autosomal dominant dyskeratosis congenita 6 Aliases: DKCA6	ACD	65057	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070024	autosomal recessive dyskeratosis congenita 6 Aliases: DKCB6	PARN	5073	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070025	X-linked dyskeratosis congenita Aliases: DKCX Zinsser-Cole-Engman syndrome	DKC1	1736	Homo sapiens (human)	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	351	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070029	ITM2B-related cerebral amyloid angiopathy 1 Aliases: Cerebral Amyloid Angiopathy, British Type FBD Familial British Dementia Presenile Dementia with Spastic Ataxia	ITM2B	9445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2 Aliases: Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis FDD Familial Danish Dementia HOOE Heredopathia Ophthalmootoencephalica	ITM2B	9445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070031	autosomal dominant intellectual developmental disorder 1 Aliases: MRD1 autosomal dominant mental retardation 1 autosomal dominant non-syndromic intellectual disability 1	MBD5	55777	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070033	autosomal dominant intellectual developmental disorder 3 Aliases: MRD3 autosomal dominant mental retardation 3 autosomal dominant non-syndromic intellectual disability 3	CDH15	1013	Homo sapiens (human)	Alliance of Genome Resources

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