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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 **2026 - 2050** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:2908	Treacher Collins syndrome Aliases: Franceschetti syndrome mandibulofacial dysostosis	NDST1 PARP1	142 3340	Homo sapiens (human)
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	EOGT	285203	Homo sapiens (human)
DOID:12930	dilated cardiomyopathy Aliases: primary dilated cardiomyopathy	cts-1	176437	Caenorhabditis elegans
DOID:0060791	hypomyelinating leukodystrophy 9 Aliases: HLD9 RARS-related autosomal recessive hypomyelinating leukodystrophy	GBA1	2629	Homo sapiens (human)
DOID:14256	adult-onset Still's disease Aliases: adult onset Still's disease adult-onset Still disease	CLEC7A GCK ICAM1 SELL SMUG1	23583 2645 3383 6402 64581	Homo sapiens (human)
DOID:2394	ovarian cancer Aliases: malignant Ovarian tumor malignant tumour of ovary ovarian neoplasm ovary neoplasm primary ovarian cancer tumor of the Ovary	Akt1 Chi3l1 Comt Ogg1 Pik3ca Tnf Tymp Ugt1a1	170911 24185 24267 24835 24861 315219 81528 89824	Rattus norvegicus (Norway rat)
DOID:8719	in situ carcinoma	Akt1	11651	Mus musculus (house mouse)
DOID:4776	rapidly progressive glomerulonephritis	ABO ACE CD44 DCN FCGR3B ICAM1 MRC1 VCAM1	1634 1636 2215 28 3383 4360 7412 960	Homo sapiens (human)
DOID:705	Leber hereditary optic neuropathy Aliases: Leber's hereditary optic neuropathy Leber's optic atrophy	ACE AKR1B1 CAT ENO2 GGT1 PGD TP53	1636 2026 231 2678 5226 7157 847	Homo sapiens (human)
DOID:11054	urinary bladder cancer Aliases: bladder cancer tumor of the bladder	enol-1	174423	Caenorhabditis elegans
DOID:0111418	familial apolipoprotein C-II deficiency Aliases: C-II anapolipoproteinemia familial APOC2 deficiency familial apoC-II deficiency hyperlipoproteinemia, type 1b hyperlipoproteinemia, type Ib	LPL	4023	Homo sapiens (human)
DOID:3186	adult oligodendroglioma Aliases: adult brain oligodendroglioma grade II adult Oligodendroglial tumor	ACLY CD44 CHI3L1 CNTN2 CSPG4 DHDDS ENO2 FASN GLUL HPSE HSPG2 IDH1 IDH2 LGALS1 LGALS3 MMUT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLA2G4C PLCB1 PTEN PTGS2 SDHB SULT1E1 UGT8	10855 1116 1464 2026 2194 23236 2752 3339 3417 3418 3956 3958 4594 47 5290 5291 5293 5294 5321 5728 5743 6390 6783 6900 7368 79947 8605 960	Homo sapiens (human)
DOID:6345	malignant melanocytic neoplasm of the peripheral nerve sheath Aliases: Melanotic malignant nerve sheath tumor Melanotic malignant peripheral nerve sheath tumor Melanotic malignant peripheral nerve sheath tumour melanocytic MPNST	SMUG1	23583	Homo sapiens (human)
DOID:0070029	ITM2B-related cerebral amyloid angiopathy 1 Aliases: Cerebral Amyloid Angiopathy, British Type FBD Familial British Dementia Presenile Dementia with Spastic Ataxia	GPC1 PRNP	2817 5621	Homo sapiens (human)
DOID:9478	postpartum depression Aliases: Maternity blues postnatal depression	ABO ACOT7 HSD11B1 MPI STS	11332 28 3290 412 4351	Homo sapiens (human)
DOID:14118	familial lipoprotein lipase deficiency Aliases: Fredrickson type I hyperlipoproteinemia Fredrickson type I lipaemia familial LPL deficiency familial hyperlipoproteinemia type I hypercholesterinaemic xanthomatosis hyperchylomicronemia mixed hyperglyceridemia	AMT DGAT1 GBE1 GPIHBP1 LCAT LPL PNPLA2	2632 275 338328 3931 4023 57104 8694	Homo sapiens (human)
DOID:0060412	chromosome 1q41-q42 deletion syndrome Aliases: 1q41-q42 microdeletion syndrome 1q41q42 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0050571	congenital disorder of glycosylation type II	Galnt2	292090	Rattus norvegicus (Norway rat)
DOID:1588	thrombocytopenia	gale-1	173171	Caenorhabditis elegans
DOID:0110733	neuronal ceroid lipofuscinosis 9 Aliases: CLN9	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP	1203 22901 2571 2572 3956 47 5310 5538 5660 7957 9374	Homo sapiens (human)
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	PIGA	5277	Homo sapiens (human)
DOID:9588	encephalitis	ACE ADH5 AGA ALOX5 APRT ARSA ATP6V0A2 CAT CD1D CD38 CD44 CD48 CD74 CD93 CEMIP CERS2 CERS6 CH25H CHAT CHGA CHI3L1 CLEC12A COMT CPT1A CPT2 CYP17A1 CYP27B1 CYP46A1 DEGS1 DGAT1 ENO2 ENPP1 FASN FCER2 FOLR2 FUT7 FUT8 GAD1 GAD2 GANAB GAPDH GCK GLUL GPI HPGDS HPRT1 HPSE ICAM1 ICAM5 IL1R1 ISYNA1 KL KLRK1 L2HGDH LDHA LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LY75 MGLL MRC1 NCAM1 NDST1 NT5E OGA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PRNP PSMD10 PTEN PTGDS PTGES PTGS2 RGMA RTN4R SDC1 SELE SELP SEMA7A SIGLEC1 SIRT6 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 ST3GAL4 STS TMED5 TNF TPI1 VCAM1	10724 10855 10858 1103 1113 1116 11343 128 1312 1374 1376 142 151056 1586 1594 160364 1636 175 2026 2194 2208 22914 22918 23193 2350 23545 23583 240 2529 2530 253782 2571 2572 2597 2645 27306 2752 2821 29956 3251 3340 3383 353 3554 3939 3956 3958 3960 3964 3965 4065 410 412 4360 4684 4907 50999 51477 51548 5167 5290 5291 5293 5294 5315 5319 5320 5321 5621 56848 56963 5716 57214 5728 5730 5743 6382 6401 6403 6484 65078 6609 6614 6646 7087 7124 7167 7412 79944 8398 847 8482 8560 8694 8877 9023 912 9365 952 9536 960 962 972	Homo sapiens (human)
DOID:6457	Cowden syndrome Aliases: Cowden disease Lhermitte-Duclos disease dysplastic Gangliocytoma of Cerebellum	ACAN ACAT1 ACE ARSD CEACAM6 CHST3 COL9A2 CYP11A1 DGCR2 GPX1 IL18RAP MBL2 MUTYH PIK3CA PIK3CB PIK3CD PIK3CG PTEN SCD SDC1 SDHB SDHC SDHD SORD	1298 1583 1636 176 2876 38 414 4153 4595 4680 5290 5291 5293 5294 5728 6319 6382 6390 6391 6392 6652 8807 9469 9993	Homo sapiens (human)
DOID:14766	renal agenesis Aliases: hereditary renal aplasia hereditary urogenital adysplasia renal adysplasia renal aplasia	FKRP FKTN FREM1 GFRA1 GPC3 LARGE1 PIGN PIGP PIGQ POMT1 POMT2 SLC2A4	10585 158326 2218 23556 2674 2719 29954 51227 6517 79147 9091 9215	Homo sapiens (human)
DOID:0090139	cortisone reductase deficiency Aliases: CORTRD	CYP2B6 H6PD HSD11B1	1555 3290 9563	Homo sapiens (human)

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