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 **8076 - 8100** of **15957** in total

« First

‹ Prev

…

320

321

322

323

324

325

326

327

328

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0110223	Brugada syndrome 6 Aliases: BRGDA6	KCNE3	10008	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050793	short QT syndrome	KCNH2 KCNH6 KCNQ1	3757 3784 81033	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110143	Bartter disease type 2 Aliases: BARTS2 Bartter syndrome type 2 Bartter syndrome type 2 antenatal hyperprostaglandin E syndrome 2 hypokalemic alkalosis with hypercalciuria 2 antenatal	KCNJ1	3758	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:0111110	maturity-onset diabetes of the young type 13 Aliases: MODY type 13 MODY13	KCNJ11	3767	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110654	long QT syndrome 13 Aliases: LQT13	KCNJ5	3762	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050675	Birk-Barel syndrome Aliases: Birk-Barel mental retardation dysmorphism syndrome	KCNK9	51305	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070442	paroxysmal nonkinesigenic dyskinesia 3 Aliases: generalized epilepsy and paroxysmal dyskinesia	KCNMA1 KCNU1	157855 3778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0001816	angiosarcoma Aliases: hemangiosarcoma	KCNN4 MYC PTPRB STAT3 TP53	3783 4609 5787 6774 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111577	dehydrated hereditary stomatocytosis 2 Aliases: desiccytosis Gardos xerocytosis Gardos	KCNN4	3783	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110644	long QT syndrome 1 Aliases: LQT1 ventricular fibrillation with prolonged QT interval	KCNQ1	3784	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080462	developmental and epileptic encephalopathy 7 Aliases: KCNQ2-related epileptic encephalopathy KCNQ2-related neonatal epileptic encephalopathy early infantile epileptic encephalopathy 7	KCNQ2	3785	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080237	autosomal dominant intellectual developmental disorder 46 Aliases: autosomal dominant mental retardation 46	KCNQ5	56479	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060686	autosomal dominant nocturnal frontal lobe epilepsy 5 Aliases: ENFL5 nocturnal frontal lobe epilepsy 5	KCNT1	57582	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080439	developmental and epileptic encephalopathy 14 Aliases: DEE14 early infantile epileptic encephalopathy 14	KCNT1	57582	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080284	developmental and epileptic encephalopathy 57 Aliases: DEE57 early infantile epileptic encephalopathy 57	KCNT2	343450	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081022	retinal cone dystrophy 3B Aliases: cone dystrophy with supernormal rod responses	KCNV2	169522	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060809	syndromic X-linked intellectual disability Claes-Jensen type Aliases: MRXSCJ MRXSJ mental retardation, X-linked, syndromic, Claes-Jensen type syndromic X-linked intellectual disability due to JARID1C mutation syndromic X-linked mental retardation JARID1C-related	KDM5B	10765	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081226	autosomal recessive intellectual developmental disorder 65	KDM5B	10765	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060473	Kabuki syndrome Aliases: KMS Kabuki make up syndrome Niikawa-Kuroki syndrome	KDM6A KMT2D UTY	7403 7404 8085	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081443	Stolerman neurodevelopmental syndrome	KDM6B	23135	Homo sapiens (human)	Alliance of Genome Resources
DOID:4511	breast angiosarcoma Aliases: hemangiosarcoma of the breast	KDR PIK3CA PTPRB	3791 5290 5787	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050904	salivary gland carcinoma	KDR PTGS1	3791 5742	Homo sapiens (human)	Alliance of Genome Resources
DOID:7736	retinal telangiectasia	KDR VEGFA	3791 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:13812	adhesions of uterus Aliases: Band of uterus Intrauterine adhesions Intrauterine synechiae	KDR VEGFA	3791 7422	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