GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Gene Symbol

Gene ID

Organism

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), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2601 - 2625** of **7942** in total

« First

‹ Prev

…

101

102

103

104

105

106

107

108

109

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:14453	farmer's lung Aliases: Farmers lung farmer lung	ATP6AP2 CEL CHI3L1 LGALS9 PARP9 SLC27A5 TNF	10159 1056 10998 1116 3965 7124 83666	Homo sapiens (human)
DOID:0060135	apraxia	ATP6AP2 COG4 EPM2A GCK GPAA1 PRNP	10159 25839 2645 5621 7957 8733	Homo sapiens (human)
DOID:2411	granular cell tumor Aliases: neoplasm of granular cell	ATP6AP2 FASN PTEN	10159 2194 5728	Homo sapiens (human)
DOID:4188	echolalia	ATP6AP2 HGSNAT SLC35C1	10159 138050 55343	Homo sapiens (human)
DOID:0050678	Blau syndrome Aliases: ARTHROCUTANEOUVEAL GRANULOMATOSIS BLAUS Jabs syndrome	ATP6AP2	10159	Homo sapiens (human)
DOID:0112105	X-linked parkinsonism-spasticity syndrome Aliases: X-linked Parkinsonism with spasticity XPDS	ATP6AP2	10159	Homo sapiens (human)
DOID:0060806	syndromic X-linked intellectual disability Hedera type Aliases: MRXE MRXSH X-linked mental retardation with epilepsy mental retardation, X-linked, syndromic, Hedera type	ATP6AP2	10159	Homo sapiens (human)
DOID:0060309	syndromic X-linked intellectual disability Aliases: syndromic X-linked mental retardation	ATP6AP2	10159	Homo sapiens (human)
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	ATP6AP2 Alg1 Alg3 Pmm2 beta4GalNAcTA	36585 37754 39436 41104 42146	Drosophila melanogaster (fruit fly)
DOID:10763	hypertension Aliases: HTN hyperpiesia vascular hypertensive disorder	ATP6AP2 CG31743 Cht10 Eno GlcT Hex-t1 Hex-t2 Hsepi Idgf1 Idgf2 Idgf3 Idgf4 Idgf5 Idgf6 Ldh Ogg1 PyK sgg trol	117364 31248 31806 31926 326156 33351 3355116 34978 34979 34981 35569 36868 37104 37516 41104 42620 43191 45320 45880	Drosophila melanogaster (fruit fly)
DOID:0050571	congenital disorder of glycosylation type II	ATP6AP2 Edem2 Pgant2 nac	33556 34714 40981 41104	Drosophila melanogaster (fruit fly)
DOID:0112105	X-linked parkinsonism-spasticity syndrome Aliases: X-linked Parkinsonism with spasticity XPDS	ATP6AP2	41104	Drosophila melanogaster (fruit fly)
DOID:0060806	syndromic X-linked intellectual disability Hedera type Aliases: MRXE MRXSH X-linked mental retardation with epilepsy mental retardation, X-linked, syndromic, Hedera type	ATP6AP2	41104	Drosophila melanogaster (fruit fly)
DOID:0060309	syndromic X-linked intellectual disability Aliases: syndromic X-linked mental retardation	ATP6AP2	41104	Drosophila melanogaster (fruit fly)
DOID:2785	Dandy-Walker syndrome Aliases: Atresia of foramina of Magendie and Luschka	ATP6V0A2 ATP6V1A B3GALNT2 B4GALT1 B4GAT1 COG8 CRPPA DAG1 DHCR7 EBP FKRP FKTN GPC3 LARGE1 PIGN PMM2 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SLC35A2	10329 10585 10682 11041 148789 1605 1717 2218 23545 23556 2683 2719 29954 523 5373 55624 729920 7355 79147 84197 84342 84892 9215	Homo sapiens (human)
DOID:0060469	Miller-Dieker lissencephaly syndrome Aliases: MDS Miller-Dieker syndrome	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CD33 CD38 CRPPA CYP2B6 DAG1 DHCR24 DLST FIG4 FKRP FKTN GAD2 HSPG2 LARGE1 NSDHL NT5M PAFAH1B1 PIGA PIGN PIGP PIGQ PLCB1 PLCE1 PLCG1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PTEN RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 1555 160418 1605 1718 1743 2218 23236 23545 23556 2572 29954 3339 412 5048 50814 51196 51227 523 5277 5335 55624 56953 5728 6383 729920 79147 84197 84892 9091 9215 945 952 9896	Homo sapiens (human)
DOID:0060857	septooptic dysplasia Aliases: De Morsier syndrome SOD septo-optic dysplasia	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CD44 CD55 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HS6ST1 LARGE1 NSDHL NT5E PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SEMA7A STS TMTC3	10329 10585 11041 148789 1604 160418 1605 1718 1743 2218 23545 29954 412 4907 5048 50814 51227 523 55624 729920 79147 84197 8482 84892 9091 9215 9394 960 9896	Homo sapiens (human)
DOID:0050777	Joubert syndrome Aliases: JBTS	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN GYS2 HSPG2 INPP5B INPP5E LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS SYNJ1 SYNJ2 TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 2998 3339 3633 412 5048 50814 51227 523 55624 56623 6383 729920 79147 84197 84892 8867 8871 9091 9215 9896	Homo sapiens (human)
DOID:0060270	pontocerebellar hypoplasia type 2D	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PCCA PCCB PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 5095 5096 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:0060278	pontocerebellar hypoplasia type 9	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:0090137	complex cortical dysplasia with other brain malformations 1 Aliases: CDCBM1 cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:4626	hydranencephaly	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:0110096	short-rib thoracic dysplasia 14 with polydactyly Aliases: SRTD14	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:0060276	pontocerebellar hypoplasia type 7	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:0060277	pontocerebellar hypoplasia type 8	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)

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

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements