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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 **8051 - 8075** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0111105	maturity-onset diabetes of the young type 8 Aliases: MODY type 8 MODY8 diabetes and pancreatic exocrine maturity-onset diabetes of the young type 8 with exocrine dysfunction	CEL	1056	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070046	Coffin-Siris syndrome 4 Aliases: CSS4 MRD16 autosomal dominant mental retardation 16	SMARCA4	6597	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060203	amyotrophic lateral sclerosis type 12 Aliases: ALS12 amyotrophic lateral sclerosis 12	OPTN	10133	Homo sapiens (human)	Alliance of Genome Resources
DOID:182	calcinosis Aliases: Pathologically calcified structure pathologic calcification	BMP4 CTNNB1 ERBB2 GPX1 SPARC SPP1	1499 2064 2876 652 6678 6696	Homo sapiens (human)	Alliance of Genome Resources
DOID:9383	iridocyclitis Aliases: primary iridocyclitis	CTLA4 HLA-DQB1 ICAM1 IL1A	1493 3119 3383 3552	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110242	cataract 13 with adult i phenotype Aliases: CTRCT13	GCNT2	2651	Homo sapiens (human)	Alliance of Genome Resources
DOID:90	degenerative disc disease Aliases: cervical disc degenerative disease intervertebral disc degeneration lumbar disc degeneration vertebral disc disease	ACAN ADAMTS4 ADAMTS5 ASPN COL10A1 COL1A1 COL2A1 CRK FOS GSK3B MMP13 MMP1 MMP3 NGF NGFR PAPPA POSTN TIMP1	10631 11096 1277 1280 1300 1398 176 2353 2932 4312 4314 4322 4803 4804 5069 54829 7076 9507	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070454	hereditary spastic paraplegia 70 Aliases: SPG70 autosomal recessive spastic paraplegia 70	MARS1	4141	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110970	brachydactyly type C Aliases: BDC	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:178	vascular disease Aliases: vascular tissue disease	ADIPOQ CPS1 GLO1 IL1RN TIMP1	1373 2739 3557 7076 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070384	developmental and epileptic encephalopathy 98 Aliases: DEE98 early infantile epileptic encephalopathy 98	ATP1A2	477	Homo sapiens (human)	Alliance of Genome Resources
DOID:4990	essential tremor Aliases: benign essential tremor essential hereditary tremor shaky hand syndrome	DRD3 MAPT	1814 4137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050934	ovarian clear cell carcinoma Aliases: clear-cell ovarian carcinoma	ARID1A	8289	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080786	Brown-Vialetto-Van Laere syndrome 2	SLC52A2	79581	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110165	Charcot-Marie-Tooth disease type 2E Aliases: CMT2E Charcot-Marie-Tooth neuropathy type 2E autosomal dominant Charcot-Marie-Tooth disease type 2E	NEFL	4747	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070263	congenital disorder of glycosylation type IIk Aliases: CDG IIk CDG syndrome type IIk CDG2K CDGIIdk Carbohydrate deficient glycoprotein syndrome type IIk Congenital disorder of glycosylation type 2k TMEM165-CDG	TMEM165	55858	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111492	combined oxidative phosphorylation deficiency 32 Aliases: COXPD32	MRPS34	65993	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060794	hypomyelinating leukodystrophy 7 Aliases: HLD7 TACH syndrome ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy dentoleukoencephalopathy hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome leukodystrophy with oligodontia leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome tremor-ataxia-central hypomyelination syndrome	POLR3A	11128	Homo sapiens (human)	Alliance of Genome Resources
DOID:9123	eczema herpeticum Aliases: Herpes simplex dermatitis of eyelid Herpes simplex eyelid dermatitis Herpes simplex virus dermatitis herpes simplex dermatitis herpes simplex virus eyelid dermatitis	IFNG	3458	Homo sapiens (human)	Alliance of Genome Resources
DOID:3012	Li-Fraumeni syndrome Aliases: LFS Li-Fraumeni Familiar cancer Susceptibility syndrome SBLA syndrome sarcoma, breast, leukaemia and adrenal gland syndrome	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080418	developmental and epileptic encephalopathy 54 Aliases: DEE54 early infantile epileptic encephalopathy 54	HNRNPU	3192	Homo sapiens (human)	Alliance of Genome Resources
DOID:4677	keratitis	IL6 TLR2 TLR4	3569 7097 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:3113	papillary carcinoma	KISS1R VEGFC	7424 84634	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110176	Charcot-Marie-Tooth disease axonal type 2X Aliases: Charcot-Marie-Tooth neuropathy type 2X autosomal recessive axonal Charcot-Marie-Tooth disease type 2X	SPG11	80208	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060835	isolated microphthalmia 6 Aliases: MCOP6 posterior nonsyndromic microphthalmia	PRSS56	646960	Homo sapiens (human)	Alliance of Genome Resources

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