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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 **976 - 1000** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:811	lipodystrophy	AGPAT2 BSCL2 CCL2 LMNA LPIN1 PPARG	10555 23175 26580 4000 5468 6347	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111135	congenital generalized lipodystrophy type 1 Aliases: Berardinelli-Seip Congenital Lipodystrophy, Type 1 Brunzell syndrome AGPAT2-related	AGPAT2	10555	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050548	hereditary sensory neuropathy Aliases: familial dysautonomia, type II hereditary sensory and autonomic neuropathy	CCT4 DNMT1 DST NTRK1 SCN11A SPTLC1 WNK1	10558 10575 11280 1786 4914 65125 667	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070162	hereditary sensory and autonomic neuropathy type 1 Aliases: HSAN1 hereditary sensory and autonomic neuropathy type I	SPTLC1 SPTLC2 SPTLC3	10558 55304 9517	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081381	juvenile amyotrophic lateral sclerosis type 27	SPTLC1	10558	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070152	hereditary sensory and autonomic neuropathy type 1A Aliases: HSAN1A hereditary sensory and autonomic neuropathy type IA	SPTLC1	10558	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070258	congenital disorder of glycosylation type IIf Aliases: CDG IIf CDG2F CDGIIdf CMP-sialic acid transporter deficiency Carbohydrate deficient glycoprotein syndrome type IIf SLC35A1-CDG	SLC35A1	10559	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:9744	type 1 diabetes mellitus Aliases: IDDM insulin-dependent diabetes mellitus type I diabetes mellitus	ACE ACHE ADIPOQ ADRB1 AGER ALDH2 AOC3 APOA1 APOA2 APOB APOC3 APOE APOM AVP BCHE BTC C3 CASP9 CBL CCL11 CCL2 CCL5 CCR2 CCR5 CD14 CD28 CD38 CD40 CD40LG CD80 CD86 CEL CFB CHI3L1 CLEC16A CP CTLA4 CYP27B1 CYP2E1 CYP2R1 DOCK8 E2F1 EDN1 EGFR EIF2AK3 F7 FADS2 FAS FASLG FUCA1 G6PC2 G6PD GAD2 GAL GC GH2 GHR GPX3 HDAC1 HDAC2 HDAC3 HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HNF1A HP HPR HSD11B2 ICAM1 IFNG IFNGR2 IGF2 IGF2R IGFBP3 IL10 IL15 IL1A IL1R1 IL1RN IL2 IL2RA IL4 IL6 INS IRAK3 ITPR3 LGALS3 LIPC LTA MBL2 NCAM1 NOS2 NOTCH4 PDX1 PLAT PON1 PRF1 PRRC2A PRSS1 PTPRN2 PTPRN REG1A SELE SELL SENP1 SERPINA7 SERPINF1 SLC11A1 SLC18A2 SOD1 SOD2 SREBF2 STAT4 TAP1 TBP TF TGFB1 THBD TIMP1 TLR2 TLR3 TLR4 TNF TNFSF4 UGT1A1 VAV1 VCAM1 VWF WFS1 XYLT1 YY1	1056 1116 11213 120227 1234 1356 1493 153 1571 1594 1636 177 1869 1906 1956 2155 217 23274 2517 2539 2572 2638 2689 2690 2878 29843 3065 3066 3113 3115 3117 3119 3123 3240 3250 3291 335 336 338 3383 345 3458 3460 348 3481 3482 3486 355 3552 3554 3557 3558 3559 356 3565 3569 3586 3600 3630 3651 3710 3958 3990 4049 4153 43 4684 4843 4855 51083 5176 5327 5444 54658 551 5551 55937 5644 57818 5798 5799 590 5967 629 6347 6352 6356 6401 6402 64131 6556 6571 6647 6648 6721 6775 685 6890 6906 6908 6927 7018 7040 7056 7076 7097 7098 7099 7124 718 7292 729230 7409 7412 7450 7466 7528 7916 81704 842 8639 867 8841 929 9370 940 941 9415 942 9451 952 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111105	maturity-onset diabetes of the young type 8 Aliases: MODY type 8 MODY8 diabetes and pancreatic exocrine maturity-onset diabetes of the young type 8 with exocrine dysfunction	CEL	1056	Homo sapiens (human)	Alliance of Genome Resources
DOID:3153	lipomatosis Aliases: multiple lipomatosis	CEL	1056	Homo sapiens (human)	Alliance of Genome Resources
DOID:9351	diabetes mellitus Aliases: diabetes	ABCG2 AGER APOB APOC2 APOC3 APOE APOH AQP1 AQP4 BMAL1 BMP5 BMP6 BMP7 BMP8A BMP8B CCL5 CD40LG CDH1 CDKAL1 CFTR CLOCK CPB2 CSF1R CTSB CYP11B2 CYP1A1 CYP2C9 CYP51A1 DLL4 EGFR F3 F7 FN1 FUCA1 G6PD GAD1 GC GCK GGT1 GIPR HFE HGF HMGCR HP ICAM1 IGF1R IL10 IL2RA IL6 INS INSR INSRR ITGA2 KCNJ11 LRP1 MAFA MMP3 NPPB OGT PDX1 PPARA PROM1 PTEN PTPN1 PTPRD PTPRN2 PTPRN SERPINA7 SERPINE1 SHBG SIRT1 SLC19A2 SLC22A12 SLC2A1 SLC2A3 SOD3 SRD5A2 TFPI TGFB1 TIMP1 TLR4 UCP3 VIM WFS1	10560 1080 116085 1361 1436 1508 1543 1559 1585 1595 177 1956 2152 2155 2335 23411 2517 2539 2571 2638 2645 2678 2696 3077 3082 3156 3240 338 3383 344 345 348 3480 350 353500 3559 3569 358 3586 361 3630 3643 3645 3651 3673 3767 389692 4035 406 4314 4879 5054 54567 5465 54901 5728 5770 5789 5798 5799 6352 6462 6513 6515 653 654 655 656 6649 6716 6906 7035 7040 7076 7099 7352 7431 7466 8473 8842 9429 9575 959 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:13382	megaloblastic anemia Aliases: Grasbeck-Imerslund syndrome Imerslund-Grasbeck syndrome MGA1 Norwegian type RH-MGA1 megaloblastic anaemia recessive hereditary megaloblastic anaemia 1 recessive hereditary megaloblastic anemia 1	AMN SLC19A2	10560 81693	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090117	thiamine-responsive megaloblastic anemia syndrome Aliases: Rogers syndrome THMD1 TRMA thiamine metabolism dysfunction syndrome 1 thiamine-responsive anaemia syndrome thiamine-responsive anemia syndrome thiamine-responsive megaloblastic anaemia syndrome thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness thiamine-responsive myelodysplasia	SLC19A2	10560	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050454	periventricular nodular heterotopia Aliases: periventricular heterotopia	ARFGEF2 FLNA MAP1B NEDD4L	10564 2316 23327 4131	Homo sapiens (human)	Alliance of Genome Resources
DOID:12117	pulmonary alveolar microlithiasis	SLC34A2	10568	Homo sapiens (human)	Alliance of Genome Resources
DOID:936	brain disease Aliases: encephalopathy	Cd163 Cpt2 Eno2 Mff Mycbp2 Nup214 Ppp2r2b Ranbp2 Slc6a4 Stim2 Ticam1 Tjp1 Unc93b1	105689 106759 116873 12896 13807 15567 19386 21872 227720 54445 72930 75734 93671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:7147	ankylosing spondylitis Aliases: Bekhterev syndrome Bekhterev's disease Marie-Strumpell disease	Ace Adipoq Ano6 Aspn Cyp1a1 Fcgr4 H2-Aa H2-Ab1 H2-D1 H2-Eb1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Igfbp3 Il17a Il23r Pgf Ptger4 Thbd Tlr4 Tlr5 Tnfrsf1b Vip	105722 110557 11421 11450 13076 14960 14961 14964 14969 14972 14990 15006 15007 15013 15015 15018 15043 16009 16171 18654 19219 209590 21824 21898 21938 22353 246256 53791 66695	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050589	inflammatory bowel disease	Adam17 Adipoq Ager Alpi Alppl2 Ano6 Cd40lg Egfr Epb41l1 Epb41l2 Epb41l3 Esr2 Fgf23 Hspa5 Icam1 Igf2 Igfbp3 Il10 Il16 Il1rn Il21r Il2 Il2ra Klkb1 Ltf Mst1 Npsr1 Pdgfb Pdzd2 Slc11a1 Slc6a14 St6galnac1 Stat3 Tgfb1 Tnf Vegfa	105722 11450 11491 11596 11650 13649 13821 13822 13823 13983 14828 15235 15894 16002 16009 16153 16170 16181 16183 16184 16621 17002 18173 18591 20445 20848 21803 21926 21947 22339 319239 56774 60504 64654 68070 76768	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111052	Scott syndrome Aliases: BDPLT7 SCTS bleeding abnormality due to deficiency of platelet biding of factor X familial prothrombin consumption inhibitor familial prothrombin conversion defect platelet-type bleeding disorder 7 prothrombin consumption deficiency	Ano6	105722	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11832	visual epilepsy Aliases: epilepsy, visual	Abcc2 Abcc8 Adamts1 App Arc Bad Bag3 C7 Ccnb1 Cdkl5 Chrna3 Cntnap2 Dkk1 Drd3 Egr1 Eno2 Epo Erbb4 Fas Fcgr2b Fcgr3 Fcgr4 Fgfr1 Gabbr1 Gap43 Gja1 Gjb6 Glud1 Glul Gria1 Grik5 Grm8 Hcn1 Hcn2 Hrh3 Hspa1a Hspa5 Ifng Il6ra Il6st Kcna1 Kcnj11 Kdm3b Map1b Mecp2 Nfe2l2 Ngfr Npy1r Npy5r Nr3c1 Pcsk1 Pdgfb Plp1 Ptgs2 Ptprz1 Rrm1 Rtn4 Scn2b Slc12a2 Slc38a1 Slc38a2 Slc38a3 Slc6a11 Smo Spp1 Srebf2 Syt1 Tacr3 Tnf Tnfrsf1a Tnfrsf1b Tuba1a Vdac1 Vdac2 Vip Vtn Wfs1 Wnt2 Ywhaz	105727 109828 110834 11504 11820 11838 12015 12780 13380 13490 13653 13807 13856 13869 14102 14130 14131 14182 14432 14609 14623 14645 14661 14799 14809 14815 14823 14828 15165 15166 15978 16194 16195 16485 16514 17257 17755 18024 18053 18166 18168 18548 18591 18823 19225 19283 193740 20133 20496 20750 20788 20927 20979 21338 21926 21937 21938 22142 22333 22334 22353 22370 22393 22413 22631 243616 246256 268697 277250 29810 319757 382253 54393 66797 67760 68585 72821 76257 99296	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110055	amelogenesis imperfecta type 3A Aliases: ADHCAI amelogenesis imperfecta hypomineralization type amelogenesis imperfecta type III autosomal dominant amelogenesis imperfecta hypocalcification type	Fam83h	105732	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060036	intrinsic cardiomyopathy	CCT3 CCT4 CCT6A DAAM1 DSG2 MRPS33 MYH7 NPPA RPL27A RPS3	10575 1829 23002 4625 4878 51650 6157 6188 7203 908	Homo sapiens (human)	Alliance of Genome Resources
DOID:14791	Leber congenital amaurosis Aliases: LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease	CCT2 CRB1 GUCY2D MYO7A PALS1 PRPH2 RDH11 RDH14	10576 23418 3000 4647 51109 57665 5961 64398	Homo sapiens (human)	Alliance of Genome Resources
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	NPC1 NPC1L1 NPC2 SMPD1	10577 29881 4864 6609	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070114	Niemann-Pick disease type C2 Aliases: NPC2	NPC2	10577	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources

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