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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 **576 - 600** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0060705	X-linked lymphoproliferative syndrome 1 Aliases: XLP1	SH2D1A	4068	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060706	X-linked lymphoproliferative syndrome 2 Aliases: XIAP deficiency XLP2	XIAP	331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060708	lymphoproliferative syndrome 2 Aliases: CD27 deficiency LPFS2	CD27	939	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060710	autosomal recessive congenital ichthyosis 2 Aliases: ARCI2 BROCQ congenital ichthyosiform erythroderma nonbullous form NCIE1 nonbullous congenital ichthyosiform erythroderma 1	ALOX12B	242	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060712	autosomal recessive congenital ichthyosis 4A Aliases: ARCI4A ICR2B ichthyosis congenita IIB lamellar ichthyosis 2	ABCA12	26154	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	ABCA12 CST6 PIGA PRSS8	1474 26154 5277 5652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060715	autosomal recessive congenital ichthyosis 6 Aliases: ARCI6	NIPAL4	348938	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060717	autosomal recessive congenital ichthyosis 8 Aliases: ARCI8 lamellar ichthyosis 4 late-onset lamellar ichthyosis	LIPN	643418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060718	autosomal recessive congenital ichthyosis 9 Aliases: ARCI9	CERS3	204219	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060720	autosomal recessive congenital ichthyosis 11 Aliases: IFAH syndrome IHS autosomal recessive ichthyosis with hypotrichosis hypotrichosis-congenital ichthyosis syndrome ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis ichthyosis-follicular atrophoderma-hypotrichosis syndrome ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome ichthyosis-hypotrichosis syndrome	ST14	6768	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060728	NGLY1-deficiency Aliases: NGLY1-CDDG congenital disorder of deglycosylation congenital disorder of glycosylation type Iv deficiency of N-glycanase 1	NGLY1	55768	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060730	torsion dystonia 1 Aliases: dystonia musculorum deformans	TOR1A TOR1B TOR2A TOR3A	1861 27348 27433 64222	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060731	congenital central hypoventilation syndrome Aliases: CCHS Ondine curse Ondine syndrome central congenital hypoventilation syndrome congenital central alveolar hypoventilation syndrome	BDNF	627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060732	chromosome 9p deletion syndrome Aliases: 9p syndrome Alfi syndrome monosomy 9p syndrome	FREM1	158326	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060733	junctional epidermolysis bullosa with pyloric atresia Aliases: Carmi syndrome JEB-PA epidermolysis bullosa junctionalis with pyloric atresia junctional epidermolysis bullosa-pyloric atresia syndrome	ITGA6 ITGB4	3655 3691	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:0060736	epidermolysis bullosa simplex Ogna type Aliases: EBS-O EBS-Og EBSOG	PLEC	5339	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060737	junctional epidermolysis bullosa Herlitz type Aliases: Herlitz type epidermolysis bullosa junctionalis Herlitz-Pearson-type epidermolysis bullosa JEB-H JEB-Herlitz type epidermolysis bullosa letalis junctional epidermolysis bullosa generalisata gravis junctional epidermolysis bullosa, Herlitz-Pearson type	ITGA6 LAMB3 LAMC2	3655 3914 3918	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060738	junctional epidermolysis bullosa non-Herlitz type Aliases: GABEB JEB-nH gen JEN-nH generalized atrophic benign epidermolysis bullosa generalized junctional epidermolysis bullosa, non-Herlitz type junctional epidermolysis bullosa generalisata mitis junctional epidermolysis bullosa, Disentis type	COL17A1 ITGB4 LAMA3 LAMB3 LAMC2	1308 3691 3909 3914 3918	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060740	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Aliases: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type vitamin B12-unresponsive methylmalonic aciduria	MMUT	4594	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect Aliases: methylmalonic acidemia, TCblR type methylmalonic aciduria due to transcobalamin receptor defect	CD320	51293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060743	methylmalonic acidemia cblB type Aliases: methylmalonic aciduria cblB type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type	MMAB	326625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060745	Doyne honeycomb retinal dystrophy Aliases: DHRD Doyne honeycomb degeneration of retina	EFEMP1	2202	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060746	basal laminar drusen Aliases: cuticular drusen drusen of bruch membrane early adult-onset grouped drusen	CFH	3075	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060747	Duane-radial ray syndrome Aliases: DR syndrome Duane anomaly with radial ray abnormalities and deafness Okihiro syndrome acrorenocular syndrome	SALL4	57167	Homo sapiens (human)	Alliance of Genome Resources

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