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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 **5776 - 5800** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:674	cleft palate Aliases: Palatoschisis	CAPZB CDC42 COL11A2 COL2A1 COLEC11 FLNB GDF6 GOLGB1 MTHFD1 NECTIN1 ROR2 SDC2 SPECC1L UFD1	1280 1302 2317 23384 2804 392255 4522 4920 5818 6383 7353 78989 832 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:8649	tongue cancer Aliases: malignant neoplasm of tongue	FGFR3 RICTOR	2261 253260	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080773	delta beta-thalassemia	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060295	complement component 2 deficiency	C2	717	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111896	Diamond-Blackfan anemia 18 Aliases: DBA18 RPL18-related Diamond-Blackfan anemia	RPL18	6141	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080219	dystransthyretinemic hyperthyroxinemia	TTR	7276	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070482	spinal neurofibromatosis Aliases: FNSF SNF familial spinal neurofibromatosis	NF1	4763	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110567	autosomal dominant nonsyndromic deafness 41 Aliases: DFNA41 autosomal dominant deafness 41	P2RX2	22953	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110148	Charcot-Marie-Tooth disease type 1A Aliases: CMT1A Charcot-Marie-Tooth neuropathy type 1A HMSN1A autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A hereditary motor and sensory neuropathy 1A microduplication 17p12	PMP22	5376	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112209	developmental and epileptic encephalopathy 73 Aliases: DEE73 early infantile epileptic encephalopathy 73	RNF13	11342	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110435	dilated cardiomyopathy 1GG Aliases: CMD1GG	SDHA	6389	Homo sapiens (human)	Alliance of Genome Resources
DOID:1417	choroid disease	IL10	3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:4997	Camurati-Engelmann disease Aliases: Diaphyseal dysplasia Engelman's disease progressive diaphyseal dysplasia	MITF TGFB1	4286 7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:9471	meningitis	HCN1 HCN2 IGF2 PLAU PLAUR	3481 348980 5328 5329 610	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070339	cerebellar hyplasia/atrophy, epilepsy, and global developmental delay	OXR1	55074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060748	familial temporal lobe epilepsy 1 Aliases: ETL1 partial epilepsy with auditory features	LGI1	9211	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080836	growth hormone insensitivity syndrome with immune dysregulation 1	STAT5A STAT5B	6776 6777	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080280	gingival fibromatosis 5	REST	5978	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080470	developmental and epileptic encephalopathy 36 Aliases: congenital disorder of glycosylation, type Is early infantile epileptic encephalopathy 36	ALG13	79868	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:6726	fibrillary astrocytoma Aliases: Fibrillary Astrocytic tumors	KRAS	3845	Homo sapiens (human)	Alliance of Genome Resources
DOID:12662	paracoccidioidomycosis Aliases: Mucocutaneous-lymphangitic paracoccidioidomycosis paracoccidioidal mycosis	CFB HLA-DRB1 IL1RL1 TNF	3123 629 7124 9173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070037	autosomal dominant intellectual developmental disorder 7 Aliases: DYRK1A syndrome MRD7 autosomal dominant mental retardation 7 autosomal dominant non-syndromic intellectual disability 7	DYRK1A	1859	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	CHST3	9469	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060778	congenital diarrhea 7 with exudative enteropathy Aliases: congenital chronic diarrhea with exudative enteropathy congenital chronic diarrhea with protein-losing enteropathy congenital chronic diarrhoea with exudative enteropathy congenital chronic diarrhoea with protein-losing enteropathy congenital diarrhoea 7 with exudative enteropathy	DGAT1	8694	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060363	glycerol kinase deficiency	GK2 GK	2710 2712	Homo sapiens (human)	Alliance of Genome Resources

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