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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 **1176 - 1200** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:10022	ampulla of Vater benign neoplasm Aliases: tumor of the ampulla of Vater	CALR	811	Homo sapiens (human)	DisGeNET
DOID:268	liver angiosarcoma Aliases: angiosarcoma of liver hemangiosarcoma of the Liver	PIK3CA PLCG1 PTEN QTRT1	5290 5335 5728 81890	Homo sapiens (human)	DisGeNET
DOID:0060389	chromosome 10q23 deletion syndrome	MBL2 MUTYH PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SMUG1	23583 4153 4595 5290 5291 5293 5294 5728 5743	Homo sapiens (human)	DisGeNET
DOID:0050787	juvenile polyposis syndrome	MBL2 MUTYH PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SMUG1	23583 4153 4595 5290 5291 5293 5294 5728 5743	Homo sapiens (human)	DisGeNET DisGeNET
DOID:7505	small intestine benign neoplasm Aliases: neoplasm of small intestine small intestinal neoplasm	SDHA SDHB SDHC	6389 6390 6391	Homo sapiens (human)	DisGeNET
DOID:0060305	megalocornea Aliases: anterior megalophthalmos congenital anterior megalophthalmia	FKRP FKTN GMPPB GNPTAB LARGE1 POMGNT1 POMK POMT1 POMT2 SLC2A10	10585 2218 29925 29954 55624 79147 79158 81031 84197 9215	Homo sapiens (human)	DisGeNET
DOID:297	pleomorphic adenoma carcinoma Aliases: carcinoma ex pleomorphic adenoma carcinoma in pleomorphic adenoma	FASN	2194	Homo sapiens (human)	DisGeNET
DOID:9699	ophthalmia neonatorum Aliases: Gonococcal conjunctivitis Gonococcal ophthalmia neonatorum Neonatal conjunctivitis	IL18R1	8809	Homo sapiens (human)	DisGeNET
DOID:14400	capillary leak syndrome	CD22 ICAM1	3383 933	Homo sapiens (human)	DisGeNET
DOID:2495	senile angioma Aliases: Senile hemangioma Senile naevus of skin	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:0090061	familial cold autoinflammatory syndrome Aliases: FCAS	HPSE PLCG2	10855 5336	Homo sapiens (human)	DisGeNET
DOID:0090065	familial cold autoinflammatory syndrome 4	HPSE PLCG2	10855 5336	Homo sapiens (human)	DisGeNET
DOID:0090062	familial cold autoinflammatory syndrome 1	HPSE PLCG2	10855 5336	Homo sapiens (human)	DisGeNET DisGeNET
DOID:743	dermatographia Aliases: dermatographic urticaria dermographism	PIGT	51604	Homo sapiens (human)	DisGeNET
DOID:0111369	hyperalphalipoproteinemia 1 Aliases: HALP1	GALNT2 LCAT LIPC LIPG LPL	2590 3931 3990 4023 9388	Homo sapiens (human)	DisGeNET
DOID:0111368	cholesterol-ester transfer protein deficiency Aliases: CEPT deficiency familial hyperalphalipoproteinemia	GALNT2 LCAT LIPC LIPG LPL	2590 3931 3990 4023 9388	Homo sapiens (human)	DisGeNET
DOID:0090105	autosomal recessive hypercholesterolemia Aliases: ARH ARH1 ARH2 FHCB1 FHCB2 autosomal recessive hypercholesterolemia 1 autosomal recessive hypercholesterolemia 2 familial autosomal recessive hypercholesterolemia	ADH1A ADPRH ADPRS CD14 LPL MPI	124 141 4023 4351 54936 929	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3659	sialuria	CEACAM5 CHIT1 GNE HPGDS PIK3CA PIK3CB PIK3CD PIK3CG RENBP SLC17A5	10020 1048 1118 26503 27306 5290 5291 5293 5294 5973	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060235	carnitine palmitoyltransferase II deficiency Aliases: CPT-II infantile carnitine palmitoyltransferase II deficiency late-onset carnitine palmitoyltransferase II deficiency lethal neonatal carnitine palmitoyltransferase II deficiency	CHPT1 CPT2 CS DHDDS EHHADH GBE1 HADHA	1376 1431 1962 2632 3030 56994 79947	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:14365	systemic primary carnitine deficiency disease Aliases: carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect	ACADM CD55 CHPT1 CPT1A CPT1B CPT2 IMPA1 LFNG MBL2 PNPLA2 SCD5 SCD SFTPD	1374 1375 1376 1604 34 3612 3955 4153 56994 57104 6319 6441 79966	Homo sapiens (human)	DisGeNET
DOID:0060067	Pearson syndrome Aliases: Pearson Marrow-Pancreas Syndrome	ACADL ACADVL CHPT1 CPT1A CPT1B CPT2 LPIN1	1374 1375 1376 23175 33 37 56994	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0080154	short chain acyl-CoA dehydrogenase deficiency	ACADS ACADSB DLD	1738 35 36	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0070329	mitochondrial DNA depletion syndrome Aliases: mtDNA depletion syndrome	ACO2 CD44 CS DGKB DGKE PARP1 PIK3CA PIK3CB PIK3CD PIK3CG SLC25A10 SUCLA2 SUCLG1	142 1431 1468 1607 50 5290 5291 5293 5294 8526 8802 8803 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111261	fumarase deficiency Aliases: FMRD fumaric aciduria	ACO2 FH	2271 50	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060174	GABA aminotransferase deficiency Aliases: Gamma-amino butyric acid transaminase deficiency gamma-aminobutyric acid transaminase deficiency	ABAT	18	Homo sapiens (human)	DisGeNET Alliance of Genome Resources

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