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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 **10226 - 10250** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
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
DOID:0111681	glutamate-cysteine ligase deficiency Aliases: gamma-glutamylcysteine synthetase deficiency hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	GCLC	2729	Homo sapiens (human)	Alliance of Genome Resources
DOID:1210	optic neuritis	AQP4 CAT CCR5 HLA-DQB1 HLA-DRB1 MOG NEFH SOD2	1234 3119 3123 361 4340 4744 6648 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070287	primary autosomal recessive microcephaly 11 Aliases: MCPH11	PHC1	1911	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080844	omodysplasia 1	GPC6	10082	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081400	autosomal dominant distal hereditary motor neuronopathy 11	SPTAN1	6709	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111644	autosomal recessive nonsyndromic deafness 110 Aliases: DFNB110 autosomal recessive deafness 110	COCH	1690	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080519	PAPA syndrome Aliases: pyogenic arthritis, pyoderma gangrenosum and acne	PSTPIP1	9051	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111376	fetal akinesia deformation sequence syndrome 3 Aliases: FADS3	DOK7	285489	Homo sapiens (human)	Alliance of Genome Resources
DOID:10316	pneumoconiosis	CAT HLA-DQB1	3119 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110312	hypertrophic cardiomyopathy 6 Aliases: CMH6 cardiomyopathy, familial hypertrophic 6	PRKAG2	51422	Homo sapiens (human)	Alliance of Genome Resources
DOID:2106	myotonia congenita Aliases: Batten Turner congenital myopathy Thomsen and Becker disease	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080336	mitochondrial DNA depletion syndrome 14	OPA1	4976	Homo sapiens (human)	Alliance of Genome Resources
DOID:8432	polycythemia Aliases: Erythrocythemia	ACE EPAS1 EPOR HBB SERPINE1	1636 2034 2057 3043 5054	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111962	combined immunodeficiency	COPG1	22820	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111576	dehydrated hereditary stomatocytosis 1 Aliases: PSHK1 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema pseudohyperkalemia edinburgh pseudohyperkalemia familial 1, due to red cell leak	PIEZO1	9780	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080557	congenital disorder of glycosylation Ie Aliases: congenital disorder of glycosylation 1e	DPM1	8813	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111584	dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Aliases: Malouf syndrome Najjar syndrome cardiogenital syndrome cardiomyopathy eith primary testicular failure congestive cardiomyopathy with hypergonadotropic hypogonadism dilated cardiomyopathy with hypergonadotropic hypogonadism dilated cardiomyopathy with premature ovarian failure genital anomaly with cardiomyopathy	LMNA	4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111371	isolated hyperchlorhidrosis Aliases: HYCHL carbonic anhydrase XII deficiency	CA12	771	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112102	Sotos syndrome 2 Aliases: SOTOS2	NFIX	4784	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110910	leukocyte adhesion deficiency 1 Aliases: LAD1 LFA1 immunodeficiency leukocyte adhesion deficiency type I lymphocyte function-associated antigen 1 immunodeficiency	ITGB2	3689	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070164	spermatogenic failure 2 Aliases: SPGF2	MSH4	4438	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080051	acromesomelic dysplasia, Hunter-Thompson type Aliases: acromesomelic dwarfism acromesomelic dysplasia-2C	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080434	developmental and epileptic encephalopathy 61 Aliases: DEE61 early infantile epileptic encephalopathy 61	ADAM22	53616	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3 Aliases: MDDGA3 Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3	POMGNT1	55624	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources

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