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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 **12101 - 12125** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080991	congenital myopathy 1B Aliases: multiminicore disease	RYR1	6261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060611	abdominal obesity-metabolic syndrome	DDX17 DDX5 GUCY2C LEP NEIL1 PPARG PPARGC1A SIRT3 SLC2A9	10521 10891 1655 23410 2984 3952 5468 56606 79661	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050575	D-2-hydroxyglutaric aciduria	IDH1	3417	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090011	immunodeficiency-centromeric instability-facial anomalies syndrome 4 Aliases: ICF syndrome 4	HELLS	3070	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110553	autosomal dominant nonsyndromic deafness 23 Aliases: DFNA23 autosomal dominant deafness 23	SIX1	6495	Homo sapiens (human)	Alliance of Genome Resources
DOID:12206	dengue hemorrhagic fever Aliases: DHF	CD1D CD209 FCGR2A IFNL1 IL21 KIR3DS1 SLC6A4	2212 282618 30835 3813 59067 6532 912	Homo sapiens (human)	Alliance of Genome Resources
DOID:13543	hyperparathyroidism	CASR CDC73 MYC TRPV6	4609 55503 79577 846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060419	chromosome 3q29 microdeletion syndrome Aliases: 3q subtelomere deletion syndrome 3q29 microdeletion syndrome 3q29 recurrent deletion 3qter deletion	BDH1 DLG1 HSD17B6 LTF MELTF SDR9C7 SLC51A TF	121214 1739 200931 4057 4241 622 7018 8630	Homo sapiens (human)	Alliance of Genome Resources
DOID:440	neuromuscular disease	GDNF GPI NEMF	2668 2821 9147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110028	age related macular degeneration 5 Aliases: ARMD5	ERCC6	2074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080441	developmental and epileptic encephalopathy 49 Aliases: DEE49 early infantile epileptic encephalopathy 49	DENND5A	23258	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110152	Charcot-Marie-Tooth disease type 1B Aliases: CMT1B Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy Charcot-Marie-Tooth neuropathy type 1B HMSN IB HMSN1B autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B hereditary motor and sensory neuropathy IB peroneal muscular atrophy	MPZ	4359	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050450	Gitelman syndrome Aliases: HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA	CLCNKB SLC12A3	1188 6559	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060688	arteriovenous malformations of the brain Aliases: cerebral arteriovenous malformation intracranial arteriovenous malformation	ACVRL1 ENG FLT1 IL6 KDR KRAS LEMD3 NOTCH4 PITPNM3 SARS1 VEGFA	2022 2321 23592 3569 3791 3845 4855 6301 7422 83394 94	Homo sapiens (human)	Alliance of Genome Resources
DOID:4138	bile duct disease Aliases: bile duct disorder disorder of bile duct	F3	2152	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111254	glutaric acidemia I Aliases: GA1 glutaric academia type 1 glutaric aciduria 1 glutaric aciduria type I glutaryl-coA dehydrogenase deficiency glutaryl-coenzyme A dehydrogenase deficiency	GCDH	2639	Homo sapiens (human)	Alliance of Genome Resources
DOID:7148	rheumatoid arthritis Aliases: Arthritis or polyarthritis, rheumatic atrophic Arthritis	ACAN ADAMTS4 ADAMTS5 ADIPOQ ADRB3 AGER APOA4 AZGP1 BTNL2 C3 C4B CASP7 CAST CCL2 CCN1 CCR1 CCR3 CCR4 CCR5 CD244 CD28 CD40 CD80 CEBPB CHI3L1 CHRFAM7A CHRNA7 CIITA CLEC16A CX3CL1 CXCR3 DNASE2 DNMT1 EDN1 ELN EPAS1 ESCO2 FAS FCGR1A FCGR2A FCGR3A FOXO3 GC HFE HGF HIF1A HLA-DQA1 HLA-DQB1 HLA-DRB1 HNRNPA2B1 HSP90AA1 HSPA4 HSPA5 HSPA9 HSPB1 HSPD1 IFNG IGF2 IL10 IL13 IL17A IL1A IL1RN IL20 IL23R IL2 IL3 IL4R IL5 IL6ST IRF5 KAT2B KMT2C LPA LRRK2 MBD4 MMP14 MMP1 MMP3 MMP8 MMP9 NOTCH4 NPSR1 NR3C1 OPRM1 PDGFB PGF PLA2G7 PLAUR PTGS2 SEMA3C SLC11A1 SLC22A4 SPP1 STAT3 TAB2 TAB3 THBD TNF TNFRSF1A TREM1 TYMS VEGFA VIM ZAP70	1051 10512 11096 1116 1139 120892 1230 1232 1233 1234 149233 155 157570 176 177 1777 1786 1906 2006 2034 2209 2212 2214 2309 23118 23274 257397 2638 2833 2908 3077 3082 3091 3117 3119 3123 3181 3308 3309 3313 3315 3320 3329 337 3458 3481 3491 355 3552 3557 3558 3562 3566 3567 3572 3586 3596 3605 3663 387129 4018 4261 4312 4314 4317 4318 4323 4855 4988 50604 5155 51744 5228 5329 54210 56244 563 5743 58508 6347 6376 6556 6583 6696 6774 7056 7124 7132 718 721 7298 7422 7431 7535 7941 831 840 8850 8930 89832 9370 940 941 9507 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060577	3MC syndrome 3	COLEC10	10584	Homo sapiens (human)	Alliance of Genome Resources
DOID:4535	hypotrichosis	DSG4	147409	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060299	complement component 6 deficiency	C6	729	Homo sapiens (human)	Alliance of Genome Resources
DOID:10754	otitis media	A2ML1 BTC CAT CTSB CTSK CTSL CTSV DNAH5 E2F4 ENPP1 EYA4 FGFR1 ICAM1 IDUA IFNG IL10 IL1A IL6 LMNA MBL2 MECOM MUC1 MUC4 MUC5AC MUC5B NAGLU NOS2 PHEX RELA SALL4 SCN2B SH3PXD2B TGIF1 TLR2 TLR4 TNF	144568 1508 1513 1514 1515 1767 1874 2070 2122 2260 285590 3383 3425 3458 3552 3569 3586 4000 4153 4582 4585 4586 4669 4843 5167 5251 57167 5970 6327 685 7050 7097 7099 7124 727897 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070482	spinal neurofibromatosis Aliases: FNSF SNF familial spinal neurofibromatosis	NF1	4763	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060646	congenital chylothorax	ELK3 ITGA9	2004 3680	Homo sapiens (human)	Alliance of Genome Resources
DOID:1936	atherosclerosis	ADD1 ADIPOQ AGER AGT APOA1 APOE CASR CD36 CD40 CD40LG CLU COL4A2 CPE CSF1 F2 FAS FCGR2A GPX3 GRN HMGB1 HNRNPC HP HPR HSPA1A ITGAM LDLR LPA MMP1 MMP2 NGF NGFR NONO NOS3 NPPB NR1H3 PARP15 PDGFD PECAM1 PLA2G7 PLAU PLTP PON1 PON3 PTGES3 PTGIS RBP4 SELP SIRT1 STAT3 STAU1 UBR1 VIM WIZ	10062 10728 118 1191 1284 1363 1435 165631 177 183 197131 2147 2212 23411 2878 2896 3146 3183 3240 3250 3303 335 348 355 3684 3949 4018 4312 4313 4803 4804 4841 4846 4879 5175 5328 5360 5444 5446 5740 58525 5950 6403 6774 6780 7431 7941 80310 846 9370 948 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:7596	asbestos-related lung carcinoma	ADAM28 RARB	10863 5915	Homo sapiens (human)	Alliance of Genome Resources

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