GlyCosmos Portal

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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 **301 - 325** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0050948	autosomal dominant hypophosphatemic rickets	FGF23	8074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050949	autosomal recessive hypophosphatemic rickets	DMP1	1758	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050950	autosomal recessive cerebellar ataxia	THG1L	54974	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050951	hereditary ataxia	CACNA1A CACNA1B CACNA1E PITRM1 SCYL1	10531 57410 773 774 777	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050954	spinocerebellar ataxia type 1	ATXN1	6310	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050955	spinocerebellar ataxia type 2	ATXN2 ATXN2L	11273 6311	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050956	spinocerebellar ataxia type 6	CACNA1A	773	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050957	spinocerebellar ataxia type 4	ZFHX3	463	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050958	spinocerebellar ataxia type 7	ATXN7 ATXN7L1	222255 6314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050961	spinocerebellar ataxia type 11	TTBK2	146057	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050963	spinocerebellar ataxia type 13	KCNC3	3748	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050965	spinocerebellar ataxia type 15 Aliases: spinocerebellar ataxia type 16	ITPR1	3708	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050967	spinocerebellar ataxia type 17	TBP	6908	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050968	autosomal dominant cerebellar ataxia, deafness and narcolepsy	DNMT1	1786	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050974	spinocerebellar ataxia type 25	PNPT1	87178	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050975	spinocerebellar ataxia type 26	EEF2	1938	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050978	spinocerebellar ataxia type 29	ITPR1	3708	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050981	spinocerebellar ataxia type 34	ELOVL4	6785	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050983	spinocerebellar ataxia type 36	NOP56	10528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050984	spinocerebellar ataxia type 37	DAB1	1600	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050985	spinocerebellar ataxia type 38	ELOVL5	60481	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050986	spinocerebellar ataxia type 40	CCDC88C	440193	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050987	hypomyelinating leukoencephalopathy	KARS1 VPS11	3735 55823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050989	episodic ataxia type 1	KCNA10 KCNA1 KCNA2 KCNA3 KCNA4 KCNA7	3736 3737 3738 3739 3743 3744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050990	episodic ataxia type 2	CACNA1A	773	Homo sapiens (human)	Alliance of Genome Resources

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