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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **151 - 175** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0080581	hyperekplexia 4	ATAD1	84896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1 Aliases: CVPT1 arrhythmogenic right ventricular dysplasia 2	Ryr2	20191	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050441	mucosulfatidosis Aliases: Sulfatidosis, Juvenile, Austin Type multiple sulfatase deficiency disease	Sumf1	58911	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2236	congenital afibrinogenemia Aliases: Factor I deficiency Fibrinogen deficiency	Fgg	99571	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12120	pulmonary alveolar proteinosis	Abca3 Csf2 Csf2ra Csf2rb	12981 12982 12983 27410	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13777	epidermodysplasia verruciformis	IL7 TMC6 TMC8	11322 147138 3574	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111448	progressive myoclonus epilepsy 1B Aliases: EPM1B	PRICKLE1	144165	Homo sapiens (human)	Alliance of Genome Resources
DOID:612	primary immunodeficiency disease Aliases: hypoimmunity immune deficiency disorder immunodeficiency syndrome	Tl	43222	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080681	X-linked chronic idiopathic intestinal pseudo-obstruction	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070371	leukoencephalopathy with vanishing white matter 4	EIF2B4	8890	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080095	myofibrillar myopathy 4 Aliases: zaspopathy	LDB3	11155	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080589	Klippel-Feil syndrome 1	GDF6	392255	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111386	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 Aliases: IBMPFD3 MSP3 multisystem proteinopathy 3	HNRNPA1	3178	Homo sapiens (human)	Alliance of Genome Resources
DOID:8506	bullous pemphigoid	IL2	3558	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060337	CEDNIK syndrome Aliases: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome	SNAP29	9342	Homo sapiens (human)	Alliance of Genome Resources
DOID:865	vasculitis Aliases: Angiitis	CAST MPO NOS3 SERPINA3	12 4353 4846 831	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112098	nuclear type mitochondrial complex I deficiency 30 Aliases: MC1DN30	NDUFB11	54539	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080547	metabolic dysfunction-associated steatohepatitis Aliases: MASH NASH non-alcoholic steatohepatitis nonalcoholic steatohepatitis	APOA1 HTR2B IL10 IL6 LEPR SERPINF1 SOD2	335 3357 3569 3586 3953 5176 6648	Homo sapiens (human)	Alliance of Genome Resources
DOID:3908	lung non-small cell carcinoma Aliases: NSCLC Non-small cell lung cancer non-small cell lung carcinoma	ABCB1 ABCC2 ACVR1B ADAM28 ARID1A ARID1B ATM BAD BAG6 BRCA1 CA12 CA9 CASP7 CASP9 CBL CDH13 CHRNA3 CHRNA5 CHRNA7 CHRNB4 CLPTM1L CMPK1 CSF1R CYP24A1 DDR1 DNMT1 E2F1 EGF EGFR EPAS1 ERBB3 ERCC5 ERCC6 ESR1 FAT1 FGFR1 FGFR4 FH FOXL2 FRZB GPX1 HDAC3 HIF1A HS3ST2 IDH2 IL1A IL1RN IL7R JAK1 KDM2A KDM6A KDR KMT2C KMT2D LRP1B LTF MAP2K4 MAP3K1 MSH2 MYD88 NCOA2 NFKB1 NRP1 NSD2 PBRM1 PLAU PLCG1 POLE PTEN PTGS2 PTPRB RARB RELA RUNX2 RUNX3 SDHA SDHC SFTPB SFTPD SLC3A2 SMARCA4 SPP1 TERT TET2 TNF TNFRSF1A TYMP UGT1A1 XPO1 XPO5 XRCC1 ZFHX3	1012 10499 10863 1136 1138 1139 1143 1244 1436 1591 1786 1869 1890 1950 1956 2034 2065 2073 2074 2099 2195 2260 2264 2271 22992 2487 2876 3091 3418 3552 3557 3575 3716 3791 4057 4214 4436 4615 463 472 4790 51727 5243 5328 5335 53353 5426 54658 54790 55193 572 5728 5743 57492 57510 5787 58508 5915 5970 6389 6391 6416 6439 6441 6520 6597 668 6696 672 7015 7124 7132 7403 7468 7514 7515 768 771 780 7917 8085 81037 8289 840 842 860 864 867 8829 8841 91 9956	Homo sapiens (human)	Alliance of Genome Resources
DOID:5052	melioidosis Aliases: Nightcliff gardener's disease Pseudoglanders Whitmore's disease acute and fulminating melioidosis subacute and chronic melioidosis	TLR5	7100	Homo sapiens (human)	Alliance of Genome Resources
DOID:182	calcinosis Aliases: Pathologically calcified structure pathologic calcification	PHO8	852092	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070123	congenital nongoitrous hypothyroidism 4 Aliases: CHNG4 isolated thyrotropin deficiency	TSHB	7252	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050955	spinocerebellar ataxia type 2	Atxn2	20239	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060948	Ullrich congenital muscular dystrophy 2	COL12A1	1303	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050753	cerebellar ataxia	L2HGDH RPGRIP1L SYNE1	23322 23345 79944	Homo sapiens (human)	Alliance of Genome Resources

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