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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 **276 - 300** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0060010	Omenn syndrome Aliases: combined immunodeficiency with hypereosinophilia	PNP	4860	Homo sapiens (human)	DisGeNET
DOID:0050466	Loeys-Dietz syndrome	IDUA SLC2A10	3425 81031	Homo sapiens (human)	DisGeNET
DOID:0080307	myofibrillar myopathy	CS PTEN	1431 5728	Homo sapiens (human)	DisGeNET
DOID:0060253	scapuloperoneal myopathy	ALOX5	240	Homo sapiens (human)	DisGeNET
DOID:0080101	Compton-North congenital myopathy Aliases: congenital myopathy 12	CNTN1	1272	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110409	retinitis pigmentosa 46 Aliases: RP46	IDH3B	3420	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060202	amyotrophic lateral sclerosis type 11 Aliases: ALS11 amyotrophic lateral sclerosis 11	FIG4	9896	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0070034	autosomal dominant intellectual developmental disorder 4 Aliases: MRD4 autosomal dominant mental retardation 4 autosomal dominant non-syndromic intellectual disability 4	ST3GAL4	6484	Homo sapiens (human)	DisGeNET
DOID:0060307	autosomal dominant intellectual developmental disorder Aliases: autosomal dominant mental retardation autosomal dominant non-syndromic mental retardation	LMAN2L ST3GAL4	6484 81562	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050807	Kahrizi syndrome Aliases: KHRZ intellectual disability, Kahrizi type intellectual disability-cataract-coloboma-kyphosis syndrome	SRD5A3	79644	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110916	hereditary spherocytosis type 1 Aliases: HS1 SPH1 hereditary spherocytosis 1	ACE CAT PTGS2	1636 5743 847	Homo sapiens (human)	DisGeNET
DOID:3021	acute kidney failure	ACE ALOX5 BAD CD44 CYP27B1 CYP2C19 CYP2C9 CYP2E1 DGKE EPHX2 G6PD GPNMB GPX3 HEXB HPRT1 ICAM1 LGALS3 LPIN1 PKD2 PTGS2 TLR4 UGT1A1 UGT1A9	10457 1557 1559 1571 1594 1636 2053 23175 240 2539 2878 3074 3251 3383 3958 5311 54600 54658 572 5743 7099 8526 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0040091	autoimmune pancreatitis	ALPI ALPP AMY2A ENO1 PKD1 SMUG1	2023 23583 248 250 279 5310	Homo sapiens (human)	DisGeNET
DOID:2538	Landau-Kleffner syndrome Aliases: acquired epileptic aphasia	ARSA	410	Homo sapiens (human)	DisGeNET
DOID:9072	lethal midline granuloma Aliases: Midfacial Necrotising Lesion malignant granuloma of face	NCAM1	4684	Homo sapiens (human)	DisGeNET
DOID:5364	pulmonary coin lesion Aliases: Coin lesion lung Coin lesion of lung	CEACAM5 PLA2G10 PLA2G2A PLB1 SMUG1	1048 151056 23583 5320 8399	Homo sapiens (human)	DisGeNET
DOID:4492	avian influenza Aliases: avian flu bird flu	CD14 PTGS2	5743 929	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080046	Stickler syndrome	CEACAM5 CEACAM6 COL9A2 PTGS2 TECTA	1048 1298 4680 5743 7007	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111260	phosphoribosylpyrophosphate synthetase superactivity Aliases: PRPP synthetase superactivity PRPS1 superactivity	PNP PRPS1	4860 5631	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060488	Pitt-Hopkins syndrome	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:0060653	lethal congenital contracture syndrome 3 Aliases: Israeli Bedouin type B multiple contracture syndrome	PIP5K1C	23396	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111277	mitochondrial trifunctional protein deficiency Aliases: MTPD TFP deficiency TFPD	ACADVL CPT1A CPT2 DHDDS EHHADH GBE1 HADH HADHA HADHB PTEN	1374 1376 1962 2632 3030 3032 3033 37 5728 79947	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080205	CAKUT Aliases: Congenital anomalies of the kidney and urinary tract Renal or urinary tract malformation	ACE ATP6AP2 FREM1 PIK3CA PIK3CB PIK3CD PIK3CG	10159 158326 1636 5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:0080147	lymphoblastic lymphoma	B3GAT1 CD14 CD1D CD22 CD33 CD38 CD44 CDH13 CEACAM5 CEACAM6 CEACAM7 CHST9 CLEC12A COLEC10 CSPG4 CYP1A1 CYP1A2 CYP1B1 CYP2C8 CYP2E1 CYP3A5 EBP EFNA5 ENO2 FUT4 GML HMMR HPGDS HPRT1 HS3ST4 IDH1 IDH2 IDUA IL18R1 INPP5D ISYNA1 KLRK1 LGALS1 LGALS3 LPL MBL2 MOGS MTAP NCAM1 NT5E PIGL PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PNP PNPLA3 PRKAA2 PTEN SACM1L SFTPD SMUG1 SPHK2 ST8SIA6 UGT1A1	1012 1048 10584 10682 1087 1464 1543 1544 1545 1558 1571 1577 160364 1946 2026 22908 22914 23583 2526 27087 27306 2765 3161 3251 338596 3417 3418 3425 3635 3956 3958 4023 4153 4507 4680 4684 4860 4907 51477 5290 5291 5293 5294 5305 54658 5563 56848 5728 6441 7841 80339 83539 8809 912 929 933 945 9487 952 960 9951	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

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