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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 **1601 - 1625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:3021	acute kidney failure	Ace Adrb2 Ager Ambp Avpr1a Azgp1 Bad Bax Clu Ece1 Egf Egfr Egln1 Epo Fas Fga Fn1 Gpt Gpx4 Gsr Havcr1 Hbegf Hp Hspa8 Icam1 Igf1r Il1rn Lcn2 Met Mpo Mtor Ndufb8 Nfe2l2 Nos3 Pkd2 Plat Pparg Proc Procr Ptafr Ptger4 Ptgs2 Ren1 Serpinc1 Slc22a1 Slc22a2 Tgfa Thbd Timd2 Tlr4 Tnfrsf1a Tnfrsf1b Uts2r Wnt4	112405 11421 11555 11596 11699 11905 12007 12015 12028 12759 13645 13649 13856 14102 14161 14268 14782 15200 15439 15481 15894 16001 16181 16819 171283 171284 17295 17523 18024 18127 18764 18791 19016 19123 19124 19204 19219 19225 19701 20517 20518 217369 21802 21824 21898 21937 21938 22417 230857 54140 56717 625249 67264 76282	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8432	polycythemia Aliases: Erythrocythemia	Ace Egln1 Epor	112405 11421 13857	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080338	familial erythrocytosis 3 Aliases: ECYT3	Egln1	112405	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081097	Rafiq syndrome Aliases: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15	MAN1B1	11253	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:11723	Duchenne muscular dystrophy Aliases: Muscular dystrophy, Duchenne	CACNA1C CACNA1D CACNA1F CACNA1S CAPN1 CAPN3 CTNNAL1 CTSS DAG1 DMD DRP2 DTNA EML3 EML4 ITGA7 KCNMA1 KCNU1 NOS1 PLA2G6 SLC6A14 SLC6A5 SNTB2 SNTG2 UTRN	11254 1520 157855 1605 1756 1821 1837 256364 27436 3679 3778 4842 54221 6645 7402 775 776 778 779 823 825 8398 8727 9152	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050589	inflammatory bowel disease	ADAM17 ADIPOQ AGER AGT ALPI ANKZF1 ANO6 B2M CD40LG EGFR EPB41 EPB41L1 EPB41L2 EPB41L3 FGF23 HSPA5 ICAM1 IGF2 IGFBP3 IL10 IL16 IL1RN IL21R IL2 IL2RA KLKB1 LTF MST1 MUC2 NOS2 NPSR1 PDGFB PDZD2 PIK3C3 RAB11A RAB11B RUNX3 SLC11A1 SLC6A14 ST6GALNAC1 STAT3 TGFB1 THEMIS TNF VEGFA	11254 177 183 1956 196527 2035 2036 2037 23037 23136 248 3309 3383 3481 3486 3557 3558 3559 3586 3603 3818 387129 387357 4057 4485 4583 4843 50615 5155 5289 55139 55808 567 6556 6774 6868 7040 7124 7422 8074 864 8766 9230 9370 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:10914	amnestic disorder Aliases: Amnestic syndrome Korsakoff's psychosis or syndrome amnesia	BCHE BDNF CREB1 DRD3 HRH3 HTR7 IRS1 IRS2 IRS4 MAPT	11255 1385 1814 3363 3667 4137 590 627 8471 8660	Homo sapiens (human)	Alliance of Genome Resources
DOID:1441	autosomal dominant cerebellar ataxia Aliases: spinocerebellar ataxia	ATXN1 ATXN1L ATXN2 ATXN2L ITPR1 ITPR2 ITPR3 NPTX1 SAMD9L	11273 219285 342371 3708 3709 3710 4884 6310 6311	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050955	spinocerebellar ataxia type 2	ATXN2 ATXN2L	11273 6311	Homo sapiens (human)	Alliance of Genome Resources
DOID:437	myasthenia gravis	ACHE ADRB2 CHRM1 CXCR3 FAS HLA-DQA1 HLA-DQB1 HLA-DRB1 IL2RB MUSK	1128 154 2833 3117 3119 3123 355 3560 43 4593	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050214	Lambert-Eaton myasthenic syndrome Aliases: Eaton-Lambert syndrome LEMS Lambert-Eaton syndrome	CACNA1A CACNA1B CHRM1	1128 773 774	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060170	generalized epilepsy with febrile seizures plus Aliases: GEFS+	GABRG2 SCN10A SCN11A SCN1A SCN1B SCN2A SCN3A SCN4A SCN5A SCN7A SCN8A SCN9A SLC32A1	11280 140679 2566 6323 6324 6326 6328 6329 6331 6332 6334 6335 6336	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111294	generalized epilepsy with febrile seizures plus 2 Aliases: GEFS+2 GEFSP2 generalised epilepsy with febrile seizures plus 2 generalised epilepsy with febrile seizures plus type 2 generalized epilepsy with febrile seizures plus type 2	SCN10A SCN11A SCN1A SCN2A SCN3A SCN4A SCN5A SCN7A SCN8A SCN9A	11280 6323 6326 6328 6329 6331 6332 6334 6335 6336	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080422	Dravet syndrome Aliases: DEE6 DEE6A developmental and epileptic encephalopathy 6 developmental and epileptic encephalopathy 6A early infantile epileptic encephalopathy 6 severe myoclonic epilepsy of infancy	SCN10A SCN11A SCN1A SCN2A SCN3A SCN4A SCN5A SCN7A SCN8A SCN9A	11280 6323 6326 6328 6329 6331 6332 6334 6335 6336	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:0111731	familial episodic pain syndrome 3 Aliases: FEPS3	SCN11A	11280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110710	hypotrichosis 13 Aliases: Hypt13 hypotrichosis with woolly hair	KRT71	112802	Homo sapiens (human)	Alliance of Genome Resources
DOID:2977	primary hyperoxaluria	AGXT GRHPR HOGA1	112817 189 9380	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111672	primary hyperoxaluria type 3 Aliases: HP3 PH III primary hyperoxaluria type III	HOGA1	112817	Homo sapiens (human)	Alliance of Genome Resources
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	ADAMTS2 B3GALT6 B4GALT7 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 DCN LOX PLOD1 TGFB1 TNXB	11285 126792 1277 1278 1281 1289 1290 1634 4015 5351 7040 7148 9509	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	B4GALT7	11285	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3312	bipolar disorder Aliases: Manic Bipolar Affective disorder Manic Depressive disorder Manic bipolar I disorder bipolar depression bipolar disorder manic phase manic depression manic disorder mixed bipolar disorder	ADIPOQ AKT1 ANK3 AVPR1B BMAL1 BRD1 CAMK2A CCL2 CDC42 CHRM2 CHRNB3 CLOCK COMT CS ERBB4 ETV1 GABRA3 GABRA5 GAD1 GAD2 GRIN2A GRIN2B GRK3 GRN GSK3B HLA-DRA HTR2C IMPA2 KAT6B L1CAM MBL2 NCAM1 NGF NRG1 NTRK2 PER3 PTGS1 PTGS2 RELN SLC18A1 SLC6A4 SNCA SRSF3 SSTR5 SYNE1 TNFRSF11B TTK VWF	1129 1142 1312 1431 157 2066 207 2115 23345 23522 23774 2556 2558 2571 2572 288 2896 2903 2904 2932 3084 3122 3358 3613 3897 406 4153 4684 4803 4915 4982 553 5649 5742 5743 6347 6428 6532 6570 6622 6755 7272 7450 815 8863 9370 9575 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:9976	heroin dependence	ABAT ABCB1 ACHE ADRA1A ALDH2 BCHE BDNF CHRM2 COMT CREB1 CYP2B6 CYP2C19 DRD1 DRD2 DRD3 DRD4 FAS FOSB GABBR1 GABRB3 GABRG2 GAD1 GAD2 GDNF GRIA1 GRIN2A GRM2 HTR3A NGF NPY1R OPRD1 OPRK1 OPRM1 POMC SLC6A3	1129 1312 1385 148 1555 1557 18 1812 1813 1814 1815 217 2354 2550 2562 2566 2571 2572 2668 2890 2903 2912 3359 355 43 4803 4886 4985 4986 4988 5243 5443 590 627 6531	Homo sapiens (human)	Alliance of Genome Resources
DOID:12140	Chagas disease Aliases: Chagas' disease chagas' disease with digestive system involvement chagas' disease with nervous system involvement chagas' disease with other organ involvement	CCL2 CCL5 CHRM2 F2 HLA-DRB1 HSPA4 IFNG PRG2 SOAT1 VIM	1129 2147 3123 3308 3458 5553 6347 6352 6646 7431	Homo sapiens (human)	Alliance of Genome Resources
DOID:2935	Chediak-Higashi syndrome Aliases: CHS Chediak - Steinbrinck anomaly	LYST WDFY3	1130 23001	Homo sapiens (human)	Alliance of Genome Resources

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