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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	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5401 - 5425** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0081369	Paget's disease of bone 6 Aliases: Paget disease of bone-6	ZNF687	57592	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060584	Noonan syndrome 6 Aliases: NS6	NRAS	4893	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110595	Stromme syndrome Aliases: CILD31 apple peel syndrome with microcephaly and ocular anomalies jejunal atresia with microcephaly and ocular anomalies lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome primary ciliary dyskinesia 31	CENPF	1063	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050908	myelodysplastic syndrome	ARPC1B ASXL1 BAP1 CD40 CDKN1B CREBBP CSF3R DDX42 EGR1 EZH2 FAS FASLG FCGR3A GATA2 GNB1 HFE IDH1 ITGB3 KDM1A MACROH2A1 MDM2 MEFV MYBL2 NPM1 NRAS PLCB1 PRPF8 SAMD9L SF3B1 SLC22A5 SRSF11 TERT TET2 TNF TP53 XRCC1 ZRSR2	10095 1027 10594 11325 1387 1441 171023 1958 2146 219285 2214 23028 23236 23451 2624 2782 3077 3417 355 356 3690 4193 4210 4605 4869 4893 54790 6584 7015 7124 7157 7515 8233 8314 9295 9555 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:3877	functional colonic disease	CRHR1 CRHR2 LINC02210-CRHR1	104909134 1394 1395	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080319	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Aliases: XMEN	MAGT1	84061	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070149	hereditary sensory and autonomic neuropathy type 7 Aliases: HSAN7 hereditary sensory and autonomic neuropathy type VII	SCN11A	11280	Homo sapiens (human)	Alliance of Genome Resources
DOID:1882	atrial heart septal defect Aliases: atrial septal defect atrioseptal defect auricular septal defect congenital atrial septal defect interatrial septal defect interauricular septal defect	BMP4 GATA4 SOS1 TBX2	2626 652 6654 6909	Homo sapiens (human)	Alliance of Genome Resources
DOID:3068	glioblastoma Aliases: GBM adult glioblastoma multiforme glioblastoma multiforme grade IV adult Astrocytic tumor primary glioblastoma multiforme spongioblastoma multiforme	ADGRB1 ADGRL4 AKT3 ASPM ATRX BAG3 BRD7 CBX8 CHAF1B CHI3L1 CPE CPEB1 CTSB CTSH DMBT1 E2F1 EGF ENPP1 EZH2 FLT3LG HEATR1 HRAS IDH1 IL16 KCNC2 KDR KRAS L1CAM MAP2K2 MAP2K3 MDM2 MGMT MMP2 MMP9 NRAS PDGFB PDGFRB PDPN PGF PIK3CB PIK3CD POLE PTGS1 PTGS2 PTPRB RB1 RPL35A SERPING1 SLC7A5 STAT3 STAT5A TNC TP53 XRCC1	10000 10630 1116 1363 1508 1512 1755 1869 1950 2146 2323 259266 29117 3265 3371 3417 3603 3747 3791 3845 3897 4193 4255 4313 4318 4893 5155 5159 5167 5228 5291 5293 5426 546 55127 5605 5606 57332 5742 5743 575 5787 5925 6165 64123 64506 6774 6776 710 7157 7515 8140 8208 9531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081292	traumatic brain injury	ADAM10 AHR APP BAD CAPN1 CD163 CIT CYP2D7 DRD1 DRD2 FTO FUBP1 GRIA1 LAMP2 LCN2 MAPT MMP2 NFE2L2 NGF NOX1 PDE10A TGFB1 TP53	102 10846 11113 1564 1812 1813 196 27035 2890 351 3920 3934 4137 4313 4780 4803 572 7040 7157 79068 823 8880 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080726	Ehlers-Danlos syndrome classic type 2	COL5A2	1290	Homo sapiens (human)	Alliance of Genome Resources
DOID:2349	arteriosclerosis Aliases: Arteriosclerotic vascular disease	ABCG5 ABCG8 ACAT1 AKR1B1 ALDH3A1 ALOX5 ALPL APOA1 APOB APOH B2M CCL5 CD36 CDH13 CHI3L1 EGR1 ESR1 F13A1 F7 FURIN HGF HP HSPD1 IFNGR1 IGFBP3 IL10 IL15 IL6ST ITGA2 ITGA7 KDR LCAT LDLR LEPR LMNA LOX MAP3K7 MET MMP12 MMP13 MMP14 MMP1 MMP2 MMP3 MMP9 MSR1 NME2 NOTCH4 NPPC PAPPA PON1 PPARG PTGER4 PTGS2 RELA SERPINA1 TBXAS1 TGFB1 TGFBR2 TLR4 TNFRSF14	1012 1116 1958 2099 2155 2162 218 231 240 249 3082 3240 3329 335 338 3459 3486 350 3572 3586 3600 3673 3679 3791 38 3931 3949 3953 4000 4015 4233 4312 4313 4314 4318 4321 4322 4323 4481 4831 4855 4880 5045 5069 5265 5444 5468 567 5734 5743 5970 6352 64240 64241 6885 6916 7040 7048 7099 8764 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:3030	mucinous adenocarcinoma Aliases: Mucin-Secreting adenocarcinoma Mucin-Secreting carcinoma Mucous carcinoma Pseudomyxoma peritonei with unknown primary site mucin-producing adenocarcinoma	MUC1 MUC2 MUC4 MUC5AC MUC6 ZFHX3	4582 4583 4585 4586 4588 463	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081001	Cowden syndrome 5	PIK3CA	5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110698	hypotrichosis 1 Aliases: Hhs Hts Hypt1 hereditary generalized hypotrichosis simplex	APCDD1 SNRPE	147495 6635	Homo sapiens (human)	Alliance of Genome Resources
DOID:2154	nephroblastoma Aliases: adult nephroblastoma	ABCB1 APOC3 BMP7 BRCA2 CD44 CDKN1B CTNNB1 CXCR2 ERBB2 FLT1 FZD7 GPC3 HIF1A IGF1R IGF2R JUP KDM4D KIT LIN28A MYC PAK1 PCNA PTGS2 REST SERPINF1 SIX1 SLC2A1 STAT1 STAT3 TERT TOP2A VEGFC WIF1	1027 11197 1499 2064 2321 2719 3091 345 3480 3482 3579 3728 3815 4609 5058 5111 5176 5243 55693 5743 5978 6495 6513 655 675 6772 6774 7015 7153 7424 79727 8324 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:9938	dacryocystitis	IL1RN	3557	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110337	osteogenesis imperfecta type 7 Aliases: OI7 osteogenesis imperfecta type VII	CRTAP	10491	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090142	cystathioninuria Aliases: cystathionase deficiency cystathione gamma-lyase deficiency syndrome gamma-cystathionase deficiency	CTH	1491	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110825	hereditary spastic paraplegia 9B Aliases: SPG9B autosomal recessive complex spastic paraplegia type 9B autosomal recessive spastic paraplegia 9B	ALDH18A1	5832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081180	autosomal recessive intellectual developmental disorder 12	ST3GAL3	6487	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050576	Senior-Loken syndrome Aliases: Loken Senior syndrome renal-retinal syndrome	TRAF3IP1	26146	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050883	infantile cerebellar-retinal degeneration	ACO2	50	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110626	primary ciliary dyskinesia 2 Aliases: CILD2 primary ciliary dyskinesia 2 with or without situs inversus	DNAAF3	352909	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060300	complement component 7 deficiency	C7	730	Homo sapiens (human)	Alliance of Genome Resources

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