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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 **2001 - 2025** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:3068	glioblastoma Aliases: GBM adult glioblastoma multiforme glioblastoma multiforme grade IV adult Astrocytic tumor primary glioblastoma multiforme spongioblastoma multiforme	Chi3l1 Enpp1 Idh1 Pgf Trp53	12654 15926 18605 18654 22059	Mus musculus (house mouse)
DOID:4511	breast angiosarcoma Aliases: hemangiosarcoma of the breast	Pik3ca	170911	Rattus norvegicus (Norway rat)
DOID:1793	pancreatic cancer Aliases: Ca body of pancreas Ca head of pancreas Ca tail of pancreas malignant neoplasm of body of pancreas malignant neoplasm of head of pancreas malignant neoplasm of tail of pancreas pancreas neoplasm pancreatic neoplasm pancreatic tumor	A4gnt Abo2 Abo3 Abo Akt1 Aldh1a1 B3galt5 Bad Hs3st2 Ins1 Ins2 Mgat4a Ogg1 Tp53 Tymp Ugt1a7c Ugt1a8	100301568 154516 24185 24188 24505 24506 24842 288161 293451 296504 301595 315219 367252 64639 65270 685758 81528	Rattus norvegicus (Norway rat)
DOID:8536	herpes zoster Aliases: Shingles herpes zona	Tnf	21926	Mus musculus (house mouse)
DOID:0110540	autosomal recessive nonsyndromic deafness 98 Aliases: DFNB98 autosomal recessive deafness 98	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0110645	long QT syndrome 2 Aliases: LQT2	algn-10	172855	Caenorhabditis elegans
DOID:5728	diffuse peritoneal leiomyomatosis Aliases: leiomyomatosis peritonealis disseminata	CYP19A1	1588	Homo sapiens (human)
DOID:0111040	glycogen storage disease IXd Aliases: GSD IXd GSD due to muscle phosphorylase kinase deficiency GSD type 9D GSD type 9E GSD type IXd GSD type IXe GSD9D X-linked muscke glycogenosis glycogen storage disease due to muscle phosphorylase kinase deficiency glycogen storage disease type 9D glycogen storage disease type 9E glycogen storage disease type IXd glycogen storage disease type IXe glycogenosis due to muscle phosphorylase kinase deficiency glycogenosis type 9D glycogenosis type 9E glycogenosis type IXd glycogenosis type IXe muscle phosphorylase kinase deficiency	ACADM AGL ALDOA APRT EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 GAA GBE1 GLA GYG1 GYG2 GYS2 HADHA LDHA MGAM PFKL PFKM PGAM2 PGK1 PGM1 PHKA1 PYGM SI SLC2A2 SLC37A4	178 1962 2027 2203 226 2538 2542 2548 2632 2717 2992 2998 3030 34 353 3939 5211 5213 5224 5230 5236 5255 57818 5837 6476 6514 7957 8908 8972 92579	Homo sapiens (human)
DOID:3534	Lafora disease Aliases: Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA	gys1	100490155	Xenopus tropicalis (tropical clawed frog)
DOID:0080217	lysosomal acid lipase deficiency Aliases: LAL deficiency LAL-D	CAT CEL CHIT1 LIPA LIPF NCAM1 SOAT2	1056 1118 3988 4684 8435 847 8513	Homo sapiens (human)
DOID:0080557	congenital disorder of glycosylation Ie Aliases: congenital disorder of glycosylation 1e	dpm1.L dpm1.S	414689 734516	Xenopus laevis (African clawed frog)
DOID:9452	steatotic liver disease Aliases: Fatty change of liver SLD Steatosis of liver alcoholic fatty liver fatty liver disease hepatic lipidosis hepatic steatosis	ACOX1 Hex-t1 Hex-t2	117364 37028 43191	Drosophila melanogaster (fruit fly)
DOID:0111248	cerebrocostomandibular syndrome Aliases: CCM syndrome CCMS cerebro-costo-mandibular syndrome rib gap defects with micrognathia	COG1	9382	Homo sapiens (human)
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	pomt1.S	108699937	Xenopus laevis (African clawed frog)
DOID:786	laryngeal disease	ACAN AKR1A1 ALDH2 CALR CEACAM6 CYP1A1 CYP2B6 DCN DPEP1 DPEP2 DPEP3 EBP GALC HPGDS MPI MRC1 NT5E PTGS2 SGPL1 SHMT1 SMUG1 UGT1A7 UGT2A1 VCAM1 VCAN	10327 10682 10941 1462 1543 1555 1634 176 1800 217 23583 2581 27306 4351 4360 4680 4907 54577 5743 64174 64180 6470 7412 811 8879	Homo sapiens (human)
DOID:0110798	hereditary spastic paraplegia 46 Aliases: SPG46 autosomal recessive spastic paraplegia 46 autosomal recessive spastic paraplegia type 46	Gba2	230101	Mus musculus (house mouse)
DOID:5692	cellular myxoid liposarcoma Aliases: Round cell liposarcoma	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:11577	Cauda equina syndrome	ACER3 ALG1 CD38 COG5 COG7 ELOVL1 GBE1	10466 2632 55331 56052 64834 91949 952	Homo sapiens (human)
DOID:3012	Li-Fraumeni syndrome Aliases: LFS Li-Fraumeni Familiar cancer Susceptibility syndrome SBLA syndrome sarcoma, breast, leukaemia and adrenal gland syndrome	CD44 CYP19A1 DCN IDH1 PKM PTEN TP53	1588 1634 3417 5315 5728 7157 960	Homo sapiens (human)
DOID:3322	GM1 gangliosidosis Aliases: Beta-galactosidase deficiency deficiency of beta-galactosidase gangliosidosis GM1	ARSA CHIT1 CTSA CYP2U1 GALNS GLB1 NEU1 OGA	10724 1118 113612 2588 2720 410 4758 5476	Homo sapiens (human)
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	B4gat1 Fkrp Fktn Pomgnt1 Pomt1 Pomt2 Rxylt1	293667 299841 308390 362520 362567 688673 84430	Rattus norvegicus (Norway rat)
DOID:2739	Gilbert syndrome Aliases: Constitutional hyperbilirubinemia Gilbert's disease Gilbert's syndrome Gilbert-Meulengracht syndrome hereditary nonhemolytic jaundice	ugt1a1 ugt1a6	100135191 100489505	Xenopus tropicalis (tropical clawed frog)
DOID:3413	alpha-mannosidosis Aliases: Alpha-D-mannosidosis alpha-mannosidase deficiency deficiency of alpha-mannosidase	LManII	34437	Drosophila melanogaster (fruit fly)
DOID:0111238	congenital muscular dystrophy-dystroglycanopathy type A13 Aliases: MDDGA13 Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13	bgnt-1.4 bgnt-1.5	182795 3565692	Caenorhabditis elegans
DOID:1800	neuroendocrine carcinoma	ABO ACOT7 ACSS2 ALG9 AMACR APRT B3GAT1 CALR CD33 CD44 CEACAM5 CEACAM7 CHGA DAD1 DPEP1 ENO2 FH GFRA1 GM2A GPC3 HPSE IDH2 ISYNA1 MTAP MUTYH NAMPT NCAM1 NT5E NTNG1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLCB3 PTEN SDC1 SDHA SDHB SDHC SDHD SELL SMUG1 SQLE TM7SF2 VCAN	10135 1048 10855 1087 1113 11332 142 1462 1603 1800 2026 2271 22854 23583 23600 23659 2674 27087 2719 2760 28 3418 353 4507 4595 4684 4907 5130 51477 5290 5291 5293 5294 5331 55902 5728 6382 6389 6390 6391 6392 6402 6713 7108 79796 811 945 960	Homo sapiens (human)

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