GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Gene Symbol

Gene ID

Organism

Source

Display
results per page.

Clear

Submissions

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 **8751 - 8775** of **15957** in total

« First

‹ Prev

…

347

348

349

350

351

352

353

354

355

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0070391	developmental and epileptic encephalopathy 105 Aliases: DEE105 early infantile epileptic encephalopathy 105	HID1	283987	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110389	retinitis pigmentosa 73 Aliases: RP73	HGSNAT	138050	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110497	autosomal recessive nonsyndromic deafness 39 Aliases: DFNB39 autosomal recessive deafness 39	HGF	3082	Homo sapiens (human)	Alliance of Genome Resources
DOID:14256	adult-onset Still's disease Aliases: adult onset Still's disease adult-onset Still disease	HGF VEGFA	3082 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:3179	inverted papilloma Aliases: Inverted papilloma, squamous cell	HGF KDR VEGFA	3082 3791 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:8472	localized scleroderma Aliases: Morphea Scleroderma, circumscribed or localised Scleroderma, circumscribed or localized circumscribed scleroderma localised morphea localised morphoea localised scleroderma localized morphea	HGF ICAM1 IL13 MMP1 TGFB1	3082 3383 3596 4312 7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:9270	alkaptonuria Aliases: Homogentisate 1,2-dioxygenase deficiency alcaptonuria	HGD	3081	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080866	primary ovarian insufficiency 9	HFM1	164045	Homo sapiens (human)	Alliance of Genome Resources
DOID:853	polymyalgia rheumatica	HFE MBL2 MMP3 PECAM1	3077 4153 4314 5175	Homo sapiens (human)	Alliance of Genome Resources
DOID:8437	intestinal obstruction	HFE IL10 PTGS2	3077 3586 5743	Homo sapiens (human)	Alliance of Genome Resources
DOID:9663	aphthous stomatitis Aliases: Aphtha Aphthous ulceration Canker sore Oral aphthae oral ulcer	HFE HSPD1 IL10 TGFB1	3077 3329 3586 7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060404	chromosome 17q12 deletion syndrome Aliases: 17q12 microdeletion syndrome	HFA1	855247	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080547	metabolic dysfunction-associated steatohepatitis Aliases: MASH NASH non-alcoholic steatohepatitis nonalcoholic steatohepatitis	HFA1 KAR2 YDC1 YPC1	852481 853418 855247 856018	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080000	muscular disease	HFA1 HMG1 HMG2	851171 854900 855247	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3323	Sandhoff disease Aliases: Sandhoff Jatzkewitz disease	HEXB	3074	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3320	Tay-Sachs disease Aliases: GM2 gangliosidosis, type 1 hexosaminidase A deficiency	HEXA	3073	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3620	central nervous system cancer Aliases: CNS neoplasm central nervous system tumor central nervous system tumors malignant neoplasm of central nervous system malignant tumor of CNS neoplasm of central nervous system	HES1 NOTCH1 NOTCH2 NOTCH3 XRCC1	3280 4851 4853 4854 7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081203	autosomal recessive intellectual developmental disorder 38	HERC2	8924	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080317	megalencephalic leukoencephalopathy with subcortical cysts 2B Aliases: megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation	HEPACAM	220296	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080318	megalencephalic leukoencephalopathy with subcortical cysts 2A	HEPACAM	220296	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090011	immunodeficiency-centromeric instability-facial anomalies syndrome 4 Aliases: ICF syndrome 4	HELLS	3070	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112106	chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia Aliases: X-linked dominant chondrodysplasia, Chassaing-Lacombe type X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome	HDAC6	10013	Homo sapiens (human)	Alliance of Genome Resources
DOID:8670	eating disorder	HDAC4	9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070227	intrahepatic cholestasis of pregnancy Aliases: ICP gravidic intrahepatic cholestasis pregnancy related cholestasis recurrent intrahepatic cholestasis of pregnancy	HDAC3	8841	Homo sapiens (human)	Alliance of Genome Resources
DOID:8616	Peyronie's disease Aliases: Induratio penis plastica Peyronie disease Peyronie's Fibromatosis	HDAC2	3066	Homo sapiens (human)	Alliance of Genome Resources

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements