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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 **11951 - 11975** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:14502	cholesterol ester storage disease Aliases: CESD partial LAL deficiency partial LIPA deficiency partial cholesterol ester hydrolase deficiency partial lysosomal acid lipase deficiency	Lip1 Lip3	41643 43973	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14497	Wolman disease Aliases: Acid esterase deficiency Acid lipase deficiency Wolman xanthomatosis Wolman's disease Wolman's or triglyceride storage type III disease Xanthomatosis, familial acute infantile lysosomal acid lipase deficiency complete LAL deficiency complete LIPA deficiency complete cholesterol ester hydrolase deficiency complete lysosomal acid lipase deficiency	Lip1 Lip3	41643 43973	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060717	autosomal recessive congenital ichthyosis 8 Aliases: ARCI8 lamellar ichthyosis 4 late-onset lamellar ichthyosis	Lip1 Lip3	41643 43973	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2565	macular corneal dystrophy Aliases: Fehr corneal dystrophy MACULAR DYSTROPHY, CORNEAL, 1	CHST6	4166	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110592	autosomal dominant nonsyndromic deafness 70 Aliases: DFNA70 autosomal dominant deafness 70	MCM2	4171	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060040	pervasive developmental disorder Aliases: Pervasive Child Development Disorders pervasive development disorder	Dop1R1	41726	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:529	blepharospasm	Dop1R1	41726	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3227	tracheal stenosis Aliases: Stenosis of trachea	Dop1R1	41726	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111967	immunodeficiency 54 Aliases: IMD54 NKCD familial isolated natural killer cell deficiency primary immunodeficiency due to MCM4 deficiency primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	MCM4	4173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060060	non-Hodgkin lymphoma	Lerp trx	41737 43223	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060936	dystonia 28 childhood-onset Aliases: DYSTONIA 28, CHILDHOOD-ONSET DYT28	trx	41737	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080176	meningococcal meningitis	CD46 MARCO MMP13 MMP9 NOD2 TLR2 TLR4	4179 4318 4322 64127 7097 7099 8685	Homo sapiens (human)	Alliance of Genome Resources
DOID:2773	contact dermatitis Aliases: Contact dermatitis/eczema Contact eczema Dermatitis, venenata dermatitis venenata	CD46 XRCC1	4179 7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:3534	Lafora disease Aliases: Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA	Glys	41823	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081267	graft-versus-host disease Aliases: GvHD graft versus host disease	Hsc70-4	41840	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1073	renal hypertension	Hsc70-4	41840	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060892	late onset Parkinson's disease Aliases: late onset Parkinson disease	Atx2 eIF4G1	41883 43839	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070515	chromosome 16p11.2 deletion syndrome, 593-kb Aliases: Proximal 16p11.2 microdeletion syndrome	Atx2	41883	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050955	spinocerebellar ataxia type 2	Atx2	41883	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1441	autosomal dominant cerebellar ataxia Aliases: spinocerebellar ataxia	Atx2	41883	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112222	developmental and epileptic encephalopathy 88 Aliases: DEE88 early infantile epileptic encephalopathy 88	MDH1	4190	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080433	developmental and epileptic encephalopathy 51 Aliases: DEE51 early infantile epileptic encephalopathy 51	MDH2	4191	Homo sapiens (human)	Alliance of Genome Resources
DOID:2999	granulosa cell tumor Aliases: Granulosa cell neoplasm Granulosa cell tumor, adult type Granulosa cell tumour, sarcomatoid malignant granulosa cell neoplasm	Sb	41958	Drosophila melanogaster (fruit fly)	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	Sb	41958	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1206	Rett syndrome Aliases: Rett's disorder cerebroatrophic hyperammonemia	ADIPOQ CDKL5 MECP2	4204 6792 9370	Homo sapiens (human)	Alliance of Genome Resources

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