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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 **901 - 925** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0070370	restrictive dermopathy 2	LMNA	4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070371	leukoencephalopathy with vanishing white matter 4	EIF2B4	8890	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070374	leukoencephalopathy with vanishing white matter 1	EIF2B1	1967	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070376	developmental and epileptic encephalopathy 31B Aliases: DEE31B	DNM1	1759	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070378	developmental and epileptic encephalopathy 109 Aliases: DEE109	FZR1	51343	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070379	developmental and epileptic encephalopathy 6B Aliases: DEE6B	SCN1A	6323	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070380	developmental and epileptic encephalopathy 85 Aliases: DEE85 early infantile epileptic encephalopathy 85	SMC1A	8243	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070382	developmental and epileptic encephalopathy 95 Aliases: DEE95 early infantile epileptic encephalopathy 95	PIGS	94005	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070383	developmental and epileptic encephalopathy 97 Aliases: DEE97 early infantile epileptic encephalopathy 97	CELF2	10659	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070384	developmental and epileptic encephalopathy 98 Aliases: DEE98 early infantile epileptic encephalopathy 98	ATP1A2	477	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070387	developmental and epileptic encephalopathy 101 Aliases: DEE101 early infantile epileptic encephalopathy 101	GRIN1	2902	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070388	developmental and epileptic encephalopathy 102 Aliases: DEE102 early infantile epileptic encephalopathy 102	SLC38A3	10991	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070389	developmental and epileptic encephalopathy 103 Aliases: DEE103 early infantile epileptic encephalopathy 103	KCNC2	3747	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070390	developmental and epileptic encephalopathy 104 Aliases: DEE104 early infantile epileptic encephalopathy 104	ATP6V0A1	535	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070391	developmental and epileptic encephalopathy 105 Aliases: DEE105 early infantile epileptic encephalopathy 105	HID1	283987	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070394	developmental and epileptic encephalopathy 108 Aliases: DEE108 early infantile epileptic encephalopathy 108	MAST3	23031	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070395	developmental and epileptic encephalopathy 110 Aliases: DEE110 early infantile epileptic encephalopathy 110	CACNA2D1	781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070396	progressive leukoencephalopathy with ovarian failure	AARS2	57505	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070397	hypomyelinating leukodystrophy 23 Aliases: HLD23	RNF220	55182	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070398	hypomyelinating leukodystrophy 15 Aliases: HLD15	EPRS1	2058	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070399	hypomyelinating leukodystrophy 18 Aliases: HLD18	DEGS1	8560	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070400	hypomyelinating leukodystrophy 19 Aliases: HLD19	TMEM63A	9725	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070403	hypomyelinating leukodystrophy 26 Aliases: HLD26	SLC35B2	347734	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070405	hypomyelinating leukodystrophy 16 Aliases: HLD16	TMEM106B	54664	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070409	autosomal recessive spinocerebellar ataxia 28 Aliases: SCAR28	THG1L	54974	Homo sapiens (human)	Alliance of Genome Resources

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