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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 **10501 - 10525** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:1307	dementia	ADIPOQ BACE1 BAX BCHE CAPZB DRD2 E2F1 EGFR GRN HMGCR IGF1R LRP8 LRPAP1 MAPT NGFR NOS2 NOTCH4 NRG1 PCSK1N PLA2G7 PON1 VCP VLDLR	1813 1869 1956 23621 27344 2896 3084 3156 3480 4043 4137 4804 4843 4855 5444 581 590 7415 7436 7804 7941 832 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080746	Sweet syndrome Aliases: Acute Febrile Neutrophilic Dermatosis Sweet's syndrome	MEFV MMP2 MMP9	4210 4313 4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090125	brain small vessel disease 1 Aliases: BSVD1 COL4A1-related brain small vessel disease with hemorrhage COL4A1-related familial vascular leukoencephalopathy COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy brain small vessel disease with Axenfeld-Riegar anomaly brain small vessel disease with hemorrhage brain small vessel disease with or without ocular anomalies infantile hemiparesis leukoencephalopathy with Axenfeld-Riegar anomaly	COL4A1	1282	Homo sapiens (human)	Alliance of Genome Resources
DOID:374	nutrition disease Aliases: Nutritional disorder	TFRC	7037	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081441	Nicolaides-Baraitser syndrome Aliases: Intellectual disability-sparse hair-brachydactyly syndrome SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME	SMARCA2 SMARCA4	6595 6597	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060193	amyotrophic lateral sclerosis type 1 Aliases: ALS1 amyotrophic lateral sclerosis 1	DCTN1 NEFH PRPH SNCG SOD1 SOD2 VEGFA	1639 4744 5630 6623 6647 6648 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080384	nephrotic syndrome type 6	PTPRO	5800	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111096	Fanconi anemia complementation group O Aliases: FANCO	RAD51C	5889	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050153	pulmonary aspergilloma	PTX3	5806	Homo sapiens (human)	Alliance of Genome Resources
DOID:1068	juvenile glaucoma Aliases: Glaucoma of childhood	MYOC	4653	Homo sapiens (human)	Alliance of Genome Resources
DOID:13938	amenorrhea Aliases: absence of menstruation amenia	FSHB	2488	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3 Aliases: MDDGB3 congenital muscular dystrophy POMGNT1-related	POMGNT1	55624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080554	congenital disorder of glycosylation Ib Aliases: congenital disorder of glycosylation 1b	MPI	4351	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110430	dilated cardiomyopathy 1G Aliases: CMD1G	TTN	7273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060372	Parkinson's disease 15 Aliases: Parkinsonian-pyramidal syndrome autosomal recessive early-onset Parkinson disease 15 autosomal recessive early-onset Parkinson's disease 15 pallidopyramidal syndrome	FBXO7	25793	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110759	type 1 diabetes mellitus 22 Aliases: IDDM22 Insulin-Dependent Diabetes Mellitus 22	CCR5	1234	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111485	combined oxidative phosphorylation deficiency 24 Aliases: COXPD24	NARS2	79731	Homo sapiens (human)	Alliance of Genome Resources
DOID:1701	steroid inherited metabolic disorder	HSD17B7	51478	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110267	cataract 44 Aliases: CTRCT44 total early-onset cataract	LSS	4047	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090002	Tietz syndrome Aliases: Tietz albinism-deafness syndrome albinism-deafness of Tietz hypopigmentation/deafness of Tietz	MITF	4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:8549	chronic ulcer of skin Aliases: Callous ulcer Indolent ulcer	ICAM1 MMP9 PDGFA PDGFRA	3383 4318 5154 5156	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111222	centronuclear myopathy 5 Aliases: CNM5	SPEG	10290	Homo sapiens (human)	Alliance of Genome Resources
DOID:3073	brain glioblastoma multiforme Aliases: Glioblastoma multiforme of brain brain Glioblastoma	EEF2 NCAM1	1938 4684	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060158	acquired metabolic disease	IGF2BP1 IGF2BP3 PNPLA2 PNPLA3	10642 10643 57104 80339	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110083	arrhythmogenic right ventricular dysplasia 12 Aliases: ARVC12 ARVD12 arrhythmogenic right ventricular cardiomyopathy 12 familial arrhythmogenic right ventricular dysplasia 12	JUP	3728	Homo sapiens (human)	Alliance of Genome Resources

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