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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	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5951 - 5975** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
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	PLOD3	8985	Homo sapiens (human)
DOID:0090017	epidermolysis bullosa simplex with muscular dystrophy Aliases: epidermolysis bullosa simplex and limb-girdle muscular dystrophy limb-girdle muscular dystrophy with epidermolysis bullosa simplex	PLOD3	8985	Homo sapiens (human)
DOID:0060736	epidermolysis bullosa simplex Ogna type Aliases: EBS-O EBS-Og EBSOG	PLOD3	8985	Homo sapiens (human)
DOID:0080554	congenital disorder of glycosylation Ib Aliases: congenital disorder of glycosylation 1b	PMI40	856720	Saccharomyces cerevisiae S288C
DOID:0111181	familial hemiplegic migraine 1 Aliases: FHM1 MHP1 familial hemiplegic migraine1 with progressive cerebellar ataxia	PMM2 PRKCSH	5373 5589	Homo sapiens (human)
DOID:0070192	autosomal recessive chronic granulomatous disease 1 Aliases: CDG1 autosomal recessive chronic granulomatous disease cytochrome b-positive type I chronic granulomatous disease due to deficiency of NCF-1 deficiency of NCF1 deficiency of SOC2 deficiency of neutrophil cytosol factor 1 deficiency of p47-PHOX deficiency of soluble oxidase component II	PMM2 SLC35A2	5373 7355	Homo sapiens (human)
DOID:0050453	lissencephaly	PMT2 PMT3 PMT4 PMT6	851210 853113 853608 854499	Saccharomyces cerevisiae S288C
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	PMT2 PMT3 PMT4 PMT6	851210 853113 853608 854499	Saccharomyces cerevisiae S288C
DOID:9884	muscular dystrophy	PMT2 PMT3 PMT4 PMT6	851210 853113 853608 854499	Saccharomyces cerevisiae S288C
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	PMT2 PMT3 PMT4 PMT6	851210 853113 853608 854499	Saccharomyces cerevisiae S288C
DOID:0112380	muscular dystrophy-dystroglycanopathy type B2 Aliases: MDDGB2 congenital muscular dystrophy POMT2-related	PMT2 PMT3 PMT6	851210 853113 854499	Saccharomyces cerevisiae S288C
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	PMT2 PMT3 PMT6	851210 853113 854499	Saccharomyces cerevisiae S288C
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N Aliases: LGMD2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related	PMT2 PMT3 PMT6	851210 853113 854499	Saccharomyces cerevisiae S288C
DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2 Aliases: MDDGA2 Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2	PMT2 PMT3 PMT6	851210 853113 854499	Saccharomyces cerevisiae S288C
DOID:0110297	autosomal recessive limb-girdle muscular dystrophy type 2K Aliases: LGMD2K MDDGC1 limb-girdle muscular dystrophy-intellectual disability syndrome muscular dystrophy limb-girdle type 2K muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1	PMT4	853608	Saccharomyces cerevisiae S288C
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	PMT4	853608	Saccharomyces cerevisiae S288C
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	PMT4	853608	Saccharomyces cerevisiae S288C
DOID:9296	cleft lip Aliases: Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip	PMT4	853608	Saccharomyces cerevisiae S288C
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	PMT4	853608	Saccharomyces cerevisiae S288C
DOID:0111260	phosphoribosylpyrophosphate synthetase superactivity Aliases: PRPP synthetase superactivity PRPS1 superactivity	PNP PRPS1	4860 5631	Homo sapiens (human)
DOID:11200	T cell deficiency Aliases: T cell immunodeficiency T lymphocyte deficiency T lymphocyte immunodeficiency	PNP SFTPA1	4860 653509	Homo sapiens (human)
DOID:613	obsolete T lymphocyte deficiency	PNP SFTPA1	4860 653509	Homo sapiens (human)
DOID:5813	purine nucleoside phosphorylase deficiency Aliases: PNP deficiency Purine-Nucleoside Phosphorylase deficiency deficiency of inosine phosphorylase	PNP	4860	Homo sapiens (human)
DOID:2555	granulomatous angiitis	PNP	4860	Homo sapiens (human)
DOID:0060010	Omenn syndrome Aliases: combined immunodeficiency with hypereosinophilia	PNP	4860	Homo sapiens (human)

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