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), 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 **776 - 800** of **7942** in total

« First

‹ Prev

…

28

29

30

31

32

33

34

35

36

…

Next ›

Last »
Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism	Source
DOID:0060585	Noonan syndrome 7 Aliases: NS7	ACADS AMT ARSA ARSD B4GALT7 BAAT BRAF CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 673 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060586	Noonan syndrome 8 Aliases: NS8	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060587	Noonan syndrome 9 Aliases: NS9	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0080548	Noonan syndrome with multiple lentigines 1 Aliases: LEOPARD syndrome 1	PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5290 5291 5293 5294 5728	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0080550	Noonan syndrome with multiple lentigines 3 Aliases: LEOPARD syndrome 3	Braf	109880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080550	Noonan syndrome with multiple lentigines 3 Aliases: LEOPARD syndrome 3	BRAF	673	Homo sapiens (human)	Alliance of Genome Resources
DOID:14291	Noonan syndrome with multiple lentigines Aliases: Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome Generalized lentiginosis Gorlin syndrome II LEOPARD syndrome Lentiginosis profusa syndrome Moynahan syndrome Multiple lentigines syndrome Progressive cardiomyopathic lentiginosis	PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5290 5291 5293 5294 5728	Homo sapiens (human)	DisGeNET
DOID:3490	Noonan syndrome Aliases: Turner's phenotype, karyotype normal	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0080693	Noonan syndrome-like disorder with loose anagen hair 2	Ppp1cb	25594	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080693	Noonan syndrome-like disorder with loose anagen hair 2	Ppp1cb	19046	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080693	Noonan syndrome-like disorder with loose anagen hair 2	GLC7	856870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080693	Noonan syndrome-like disorder with loose anagen hair 2	ppp1cb	496958	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0080693	Noonan syndrome-like disorder with loose anagen hair 2	PPP1CB	5500	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080693	Noonan syndrome-like disorder with loose anagen hair 2	ppp1cb.L ppp1cb.S	108717671 443852	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0060844	Norrie disease Aliases: Episkopi blindness Norrie-Warburg disease atrophia bulborum hereditaria	CD38 CEACAM5 CEACAM7 CMAS	1048 1087 55907 952	Homo sapiens (human)	DisGeNET
DOID:1391	Norum disease Aliases: LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY lecithin acyltransferase deficiency	EFNA5 GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2822 3030 3032 3290 3339 3931 3956 4023 5286 5320 7903 7941 8399 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0111271	Oliver-McFarlane syndrome Aliases: OMCS eyelashes long mental retardation long eyelashes-intellectual disability syndrome trichomegaly-retina pigmentary degeneration-dwarfism syndrome	NT5E PNPLA6	10908 4907	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4624	Ollier disease Aliases: DYSCHONDROPLASIA ENCHONDROMATOSIS, MULTIPLE Enchondromatosis with haemangiomata Kast's syndrome OSTEOCHONDROMATOSIS	CHST3 EXT1 EXT2 HSPG2 IDH1 IDH2	2131 2132 3339 3417 3418 9469	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0060010	Omenn syndrome Aliases: combined immunodeficiency with hypereosinophilia	PNP	4860	Homo sapiens (human)	DisGeNET
DOID:7489	Osgood-Schlatter's disease Aliases: Osgood-Schlatter disease Osteochondritis of tibial tubercle Osteochondrosis of proximal tibia juvenile osteochondrosis of tibial tubercle	COL9A2	1298	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0090111	PCWH syndrome Aliases: Neurologic Waardenburg-Shah syndrome PCWH Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome	GBA1	2629	Homo sapiens (human)	DisGeNET
DOID:14039	POEMS syndrome	CYP19A1 SDC1	1588 6382	Homo sapiens (human)	DisGeNET
DOID:0080191	PTEN hamartoma tumor syndrome	PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5290 5291 5293 5294 5728	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	hs6st2	378450	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	hs6st2	100496603	Xenopus tropicalis (tropical clawed frog)	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

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements