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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 **12051 - 12075** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0060076	estrogen-receptor negative breast cancer	CYB5R3	1727	Homo sapiens (human)	Alliance of Genome Resources
DOID:10783	methemoglobinemia	CYB5R3	1727	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060591	WHIM syndrome Aliases: WHIMS warts, hypogammaglobulinemia, infections, and myelokathexis warts-hypogammaglobulinemia-infections-myelokathexis syndrome	CXCR4	7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:615	leukopenia Aliases: Leucopenia	CXCR4 PLAT	5327 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050909	extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue Aliases: MALT lymphoma MALT lymphoma of the dura mucosa-associated lymphoid tissue lymphoma	CXCR4 HLA-DQA1	3117 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060901	lymphoplasmacytic lymphoma Aliases: Waldenstroem's macroglobulinemia Waldenstrom Macroglobulinemia lymphoplasmacytic lymphoma with IgM gammopathy	CXCR4 FCGR3A GPX3 IL10 IL6 IRF4 MYD88	2214 2878 3569 3586 3662 4615 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:2596	larynx cancer	CXCR4 ERCC5 ERCC6 GPX1 NOD2 VEGFA	2073 2074 2876 64127 7422 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:5241	hemangioblastoma Aliases: Capillary Hemangioblastoma	CXCR4 DLL4 NOTCH4	4855 54567 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050073	invasive aspergillosis	CXCR3 CYP2C19 MBL2 PTX3 TLR4	1557 2833 4153 5806 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:559	acute pyelonephritis	CXCR2 RBP4	3579 5950	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080784	urinary tract infection Aliases: UTI	CXCR1 HSPA1B IL1A LCN2 TLR2 TLR4	3304 3552 3577 3934 7097 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:649	prion disease Aliases: Prion disease pathway Prion protein disease Spongiform Encephalopathy prion induced disorder transmissible spongiform encephalopathy	CX3CL1 SOD1 USP14	6376 6647 9097	Homo sapiens (human)	Alliance of Genome Resources
DOID:9810	polyarteritis nodosa	CX3CL1 ELN GDNF GFRA1 VEGFA	2006 2668 2674 6376 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:900	hepatopulmonary syndrome	CX3CL1 EDN1 EDNRB NOS3 TNF VEGFA	1906 1910 4846 6376 7124 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:1572	normal pressure hydrocephalus Aliases: Low pressure hydrocephalus	CWH43	850376	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070254	congenital disorder of glycosylation type IIb Aliases: CDG IIb CDG2B CDGIIb glucosidase I deficiency	CWH41	852857	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2531	hematologic cancer Aliases: Hematologic malignancy Hematologic neoplasm Hematological tumors blood cancer hematopoietic and lymphoid system tumor hematopoietic cancer hematopoietic neoplasm hematopoietic tumors malignant hematopoietic neoplasm	CUX1 JAK1 JAK3 PIAS1 PIAS2 SLC19A1 TP53 TYK2	1523 3716 3718 6573 7157 7297 8554 9063	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060241	3-M syndrome Aliases: Le Merrer syndrome Miller-McKusick-Malvaux syndrome Yakut short stature syndrome dolichospondylic dysplasia gloomy face syndrome three M syndrome	CUL7 OBSL1	23363 9820	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060822	syndromic X-linked intellectual disability Cabezas type Aliases: Cabezas syndrome; syndromic X-linked mental retardation 15 MRSS MRXS15 MRXSC X-linked mental retardation with short stature X-linked mental retardation with short stature, hypogonadism, and abnormal gait mental retardation, X-linked, syndromic 15 mental retardation, X-linked, syndromic 15 (Cabezas type)	CUL4B	8450	Homo sapiens (human)	Alliance of Genome Resources
DOID:4479	pseudohypoaldosteronism	CUL3 NR3C2 SCNN1A SCNN1B SCNN1G WNK1 WNK2 WNK3	4306 6337 6338 6340 65125 65267 65268 8452	Homo sapiens (human)	Alliance of Genome Resources
DOID:870	neuropathy Aliases: peripheral neuropathy	CTSS MPZ NEMF NRG1 YARS1	1520 3084 4359 8565 9147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080038	pycnodysostosis	CTSK	1513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110727	neuronal ceroid lipofuscinosis 13 Aliases: CLN13 neuronal ceroid lipofuscinosis 13 Kufs type	CTSF	8722	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110725	neuronal ceroid lipofuscinosis 10 Aliases: CLN10 Cathepsin D deficiency neuronal ceroid lipofuscinosis cathepsin D-deficient neuronal ceroid lipofuscinosis due to cathepsin D deficiency	CTSD	1509	Homo sapiens (human)	Alliance of Genome Resources
DOID:3389	Papillon-Lefevre disease Aliases: Papillon Lefevre syndrome Papillon-Lefvre syndrome	CTSC	1075	Homo sapiens (human)	Alliance of Genome Resources

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