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 **3826 - 3850** of **4649** in total

« First

‹ Prev

…

150

151

152

153

154

155

156

157

158

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0070224	progressive familial intrahepatic cholestasis 4 Aliases: PFIC4 TJP2 deficit	TJP2	9414	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070223	progressive familial intrahepatic cholestasis 3 Aliases: MDR3 deficiency PFIC3 progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase	ABCB4	5244	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070222	progressive familial intrahepatic cholestasis 2 Aliases: BSEP deficiency PFIC2	ABCB11	8647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070221	progressive familial intrahepatic cholestasis Aliases: PFIC; Byler disease	ATP10B SEMA7A SLC51A VPS33B ZFYVE19	200931 23120 26276 8482 84936	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070220	familial hyperinsulinemic hypoglycemia 5 Aliases: HHF5 hyperinsulinemic hypoglycemia due to INSR deficiency hyperinsulinemic hypoglycemia due to insulin receptor deficiency hyperinsulinism due to INSR deficiency	INSR	3643	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070219	familial hyperinsulinemic hypoglycemia 1 Aliases: HHF1	ABCC8	6833	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070218	familial hyperinsulinemic hypoglycemia 2 Aliases: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency HHF2 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia	KCNJ11	3767	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070217	familial hyperinsulinemic hypoglycemia 6 Aliases: HHF6 HI/HA syndrome hyperinsulinism-hyperammonemia syndrome	GLUD1	2746	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070216	familial hyperinsulinemic hypoglycemia 3 Aliases: HHF3 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinism due to glucokinase deficiency	GCK	2645	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070215	familial hyperinsulinemic hypoglycemia 4 Aliases: HHF4 hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency hyperinsulinism due to SCHAD deficiency hyperinsulinism due to glutamodehydrogenase deficiency hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HADH	3033	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070210	hereditary lymphedema IA Aliases: LMPH1A	FLT4	2324	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070209	hereditary lymphedema ID Aliases: LMPH1D	VEGFC	7424	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070208	hereditary lymphedema IC Aliases: LMPH1C	GJC2	57165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070205	familial partial lipodystrophy type 4 Aliases: FPLD4 PLIN1-related FPLD PLIN1-related familial partial lipodystrophy familial partial lipodystrophy associated with PLIN1 mutations	PLIN1	5346	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070204	familial partial lipodystrophy type 3 Aliases: FPLD3 PPARG-related FPLD PPARG-related familial partial lipodystrophy familial partial lipodystrophy associated with PPARG mutations	PPARG	5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070202	familial partial lipodystrophy type 2 Aliases: FPLD2 familial lipodystrophy of limbs and lower trunk familial partial lipodystrophy Dunnigan type reverse partial lipodystrophy	LMNA LMNB1 LMNB2	4000 4001 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070201	Miyoshi muscular dystrophy 3 Aliases: MMD3 Miyoshi myopathy 3	ANO5	203859	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070197	distal myopathy 1 Aliases: Distal myopathy type 1 Gowers disease Laing distal myopathy Laing early-onset distal myopathy MPD1	MYH7	4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070195	X-linked chronic granulomatous disease Aliases: CDGX X-linked chronic cytochrome b-negative granulomatous disease	CYBB	1536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070187	Y-linked spermatogenic failure 2 Aliases: SPGFY2 nonobstructive Y-linked spermatogenic failure	USP9Y	8287	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070182	spermatogenic failure 13 Aliases: SPGF13	TAF4B	6875	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070177	spermatogenic failure 22 Aliases: SPGF22	MEIOB	254528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070174	spermatogenic failure 17 Aliases: Male infertility due to oocyte activation failure SPGF17	PLCZ1	89869	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070170	spermatogenic failure 19 Aliases: SPGF19	CFAP43	80217	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070168	spermatogenic failure 3 Aliases: SPGF3	SLC26A8 SRSF6	116369 6431	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