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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 **651 - 675** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:7519	endocervical carcinoma Aliases: carcinoma of endocervix carcinoma of the Endocervix	PTGS2	5743	Homo sapiens (human)	DisGeNET
DOID:8747	obsolete subacute myeloid leukemia	ETNK1 G6PD	2539 55500	Homo sapiens (human)	DisGeNET
DOID:0080210	primary mediastinal B-cell lymphoma Aliases: Large cell lymphoma of the mediastinum Mediastinal diffuse large-cell lymphoma with sclerosis Primary mediastinal clear cell lymphoma of B-cell type	FCER2 FUT4 PIK3CA PIK3CB PIK3CD PIK3CG	2208 2526 5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:0050809	mucopolysaccharidosis IX	HYAL1 HYAL2	3373 8692	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0090139	cortisone reductase deficiency Aliases: CORTRD	CYP2B6 H6PD HSD11B1	1555 3290 9563	Homo sapiens (human)	DisGeNET 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)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:2801	nonspecific interstitial pneumonia Aliases: NSIP	SFTPC	6440	Homo sapiens (human)	DisGeNET
DOID:0060574	von Willebrand's disease 2 Aliases: VWD type 2 VWD2 von Willebrand disease type 2 von Willebrand disease type II	ACADVL HADHA OTOA	146183 3030 37	Homo sapiens (human)	DisGeNET
DOID:11656	cicatricial pemphigoid Aliases: Cicatricial pemphigoid with ocular involvement Ocular pemphigoid benign mucous membrane pemphigoid benign mucous membrane pemphigoid with ocular involvement ocular pemphigus	AKR1C3 TNF	7124 8644	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060013	X-linked severe combined immunodeficiency Aliases: SCID-X1 XSCID gamma chain deficiency thymic epithelial hypoplasia	FUT1 IL18R1 PGK1	2523 5230 8809	Homo sapiens (human)	DisGeNET
DOID:1036	chronic leukemia	HMMR	3161	Homo sapiens (human)	DisGeNET
DOID:0111377	fetal akinesia deformation sequence syndrome 1 Aliases: FADS1	AGRN CNTN1 DPAGT1 GBA1 GBE1 PDHA1 PIGS	1272 1798 2629 2632 375790 5160 94005	Homo sapiens (human)	DisGeNET
DOID:0111375	fetal akinesia deformation sequence syndrome Aliases: FADS Pena-Shokeir syndrome type 1 arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome fetal akinesia sequence foetal akinesia deformation sequence syndrome foetal akinesia sequence	AGRN CNTN1 DPAGT1 GBA1 GBE1 PDHA1 PIGS	1272 1798 2629 2632 375790 5160 94005	Homo sapiens (human)	DisGeNET
DOID:0060444	granular corneal dystrophy 2 Aliases: CGD2 avellino corneal dystrophy combined granular-lattice corneal dystrophy corneal dystrophy, Avellino type granular corneal dystrophy type 2	ACE CAT CD1D GCDH LPIN2 PARP1 SDC1	142 1636 2639 6382 847 912 9663	Homo sapiens (human)	DisGeNET
DOID:6496	obsolete extraskeletal myxoid chondrosarcoma	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:0090018	autosomal dominant familial periodic fever Aliases: FHF FPF TNF receptor associated periodic syndrome TRAPS familial Hibernian fever hibernian fever tumor necrosis factor receptor associated periodic syndrome	CD14 CYP17A1 FCGR3B IL18R1 PC PIK3CA PIK3CB PIK3CD PIK3CG SIGLEC7	1586 2215 27036 5091 5290 5291 5293 5294 8809 929	Homo sapiens (human)	DisGeNET
DOID:0111460	cardiofaciocutaneous syndrome 1 Aliases: CFC1	BRAF CFC1	55997 673	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060233	cardiofaciocutaneous syndrome Aliases: CFC syndrome cardio-facial-cutaneous syndrome	BRAF CFC1	55997 673	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:11200	T cell deficiency Aliases: T cell immunodeficiency T lymphocyte deficiency T lymphocyte immunodeficiency	PNP SFTPA1	4860 653509	Homo sapiens (human)	DisGeNET
DOID:613	obsolete T lymphocyte deficiency	PNP SFTPA1	4860 653509	Homo sapiens (human)	DisGeNET
DOID:0060680	pigment dispersion syndrome Aliases: glaucoma-related pigment dispersion syndrome pigment-dispersion type glaucoma	ABO ALDH7A1 CD38 GPNMB PTGDS	10457 28 501 5730 952	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3857	large cell medulloblastoma Aliases: Anaplastic medulloblastoma	PARP1	142	Homo sapiens (human)	DisGeNET
DOID:2679	dysembryoplastic neuroepithelial tumor Aliases: Dysembryoplastic Neuroepithelial neoplasm dysembryoplastic neuroepithelial tumour	BRAF IDH1 PIK3CA PIK3CB PIK3CD PIK3CG	3417 5290 5291 5293 5294 673	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4769	pleuropulmonary blastoma	NCAM1	4684	Homo sapiens (human)	DisGeNET
DOID:5704	sclerosing liposarcoma	ALPP ATRNL1 CPM FASN GGT1 IDH1 IDH2 NANS TNKS	1368 2194 250 26033 2678 3417 3418 54187 8658	Homo sapiens (human)	DisGeNET DisGeNET

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