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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 **14926 - 14950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0060158	acquired metabolic disease	IGF2BP1 IGF2BP3 PNPLA2 PNPLA3	10642 10643 57104 80339	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 Dlg2 Dlg4 Hsd17b2 Hsd17b6 Inhca Ltf Meltf Slc51a Trf	106407 13383 13385 15486 17002 22041 23859 27400 30060 71775 71911	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070221	progressive familial intrahepatic cholestasis Aliases: PFIC; Byler disease	Atp10a Sema7a Slc51a	106407 11982 20361	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110500	autosomal recessive nonsyndromic deafness 42 Aliases: DFNB42 autosomal recessive deafness 42	Ildr1	106347	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080010	bone structure disease	POSTN QRFPR	10631 84109	Homo sapiens (human)	Alliance of Genome Resources
DOID:971	tendinitis	CCN2 FMOD LRP5 MMP1 POSTN	10631 1490 2331 4041 4312	Homo sapiens (human)	Alliance of Genome Resources
DOID:783	end stage renal disease Aliases: end stage renal failure end-stage kidney disease	ABCA1 ABCB1 ABCC2 ABCC3 ABCG1 ACAT1 ACE ADIPOQ ADRB2 AGER AGTR2 ALB APOA1 APOC2 APOC3 APOE BDKRB1 C6 CASR CAT CCL2 CCL5 CCR5 CD2AP CD40 CD40LG CFB CHGA COL1A1 COL3A1 COL4A3 COL4A4 CPT1A CSF1 CTLA4 CXCR1 CXCR2 CYBB CYP1A1 CYP2C18 CYP2C8 CYP3A5 DRD1 DRD2 EDN1 ENPP1 EPOR F2 F5 FCGR2B FGB FN1 GHRL GLO1 GTPBP4 HMGCR ICAM1 IL1A IL1RN IL20 IRS1 ITGA8 ITGB3 KEAP1 KL KLK1 LCAT LCN2 LEP LIPC LPIN1 LPL LRP2 MBL2 MLXIPL MMP1 MMP2 MMP3 MPO MTOR MYH9 NGF NOS1 NOS3 NPHS1 NPPB NPPC NR3C1 OLR1 PGF PLA2G7 PLAU PLAUR POSTN PPARG PTGER4 RELA SCAF1 SCAP SCARB1 SELL SERPINE1 SLC22A2 SLC34A1 SLC9A5 SOAT2 SREBF2 TGFB1 THBD TLR2 TLR4 TNF TNFRSF11B TNFRSF1A TNFRSF1B UCP2 VWF	10631 1113 1234 1244 1277 1281 1285 1286 1374 1435 1493 1536 154 1543 1558 1562 1577 1636 177 1812 1813 186 19 1906 2057 213 2147 2153 2213 2244 22937 23175 2335 23560 23607 2475 2739 2908 3156 335 3383 344 345 348 3552 3557 3577 3579 3667 3690 38 3816 3931 3934 3952 3990 4023 4036 4153 4312 4313 4314 4353 4627 4803 4842 4846 4868 4879 4880 4973 4982 5054 50604 51085 5167 51738 5228 5243 5328 5329 5468 5734 58506 5970 623 629 6347 6352 6402 6553 6569 6582 6721 7040 7056 7097 7099 7124 7132 7133 729 7351 7450 7941 8435 846 847 8516 8714 9365 9370 949 958 959 9619 9817	Homo sapiens (human)	Alliance of Genome Resources
DOID:90	degenerative disc disease Aliases: cervical disc degenerative disease intervertebral disc degeneration lumbar disc degeneration vertebral disc disease	ACAN ADAMTS4 ADAMTS5 ASPN COL10A1 COL1A1 COL2A1 CRK FOS GSK3B MMP13 MMP1 MMP3 NGF NGFR PAPPA POSTN TIMP1	10631 11096 1277 1280 1300 1398 176 2353 2932 4312 4314 4322 4803 4804 5069 54829 7076 9507	Homo sapiens (human)	Alliance of Genome Resources
DOID:1474	aggressive periodontitis Aliases: juvenile periodontitis	BRINP3 CCL2 CCR2 COL1A1 CTSC IL10 IL1R2 IL2 IL6 POSTN PPIA	10631 1075 1277 339479 3558 3569 3586 5478 6347 729230 7850	Homo sapiens (human)	Alliance of Genome Resources
DOID:3304	germinoma	PDPN	10630	Homo sapiens (human)	Alliance of Genome Resources
DOID:12215	oligohydramnios Aliases: Oligohydramnios - delivered antepartum oligohydramnios delivered oligohydramnios	PDGFA PDGFB PDGFRA PDGFRB PDPN	10630 5154 5155 5156 5159	Homo sapiens (human)	Alliance of Genome Resources
DOID:8719	in situ carcinoma	AKT1 ALOX5 ALPL ANGPT1 CTNNB1 ESR1 IGF2R IGFBP6 MKI67 PDGFRA PDPN POU5F1 PTEN PTGES PTGS2 RB1 RUNX3 SFN SFRP1 XRCC1	10630 1499 207 2099 240 249 2810 284 3482 3489 4288 5156 5460 5728 5743 5925 6422 7515 864 9536	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:0070283	primary autosomal recessive microcephaly 13 Aliases: MCPH13	CENPE	1062	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110813	hereditary spastic paraplegia 62 Aliases: SPG62 autosomal recessive spastic paraplegia 62 autosomal recessive spastic paraplegia type 62	ERLIN1	10613	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080095	myofibrillar myopathy 4 Aliases: zaspopathy	LDB3 PDLIM5 PDLIM7	10611 11155 9260	Homo sapiens (human)	Alliance of Genome Resources
DOID:423	myopathy	ACTB CLCN2 CLCNKB COL15A1 COL18A1 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 DNM2 FHL1 FLNA FLNB FLNC HMGCR HNRNPA1 HNRNPA1L2 HNRNPA2B1 HNRNPA3 LDB3 LMNA LMNB1 LMNB2 MEGF10 MEGF11 MTM1 MTMR1 MTMR2 MYBPC2 MYH15 MYH1 MYH7 NPL PDLIM5 PDLIM7 PEAR1 PSMC5	10611 11155 1181 1188 1282 1285 1286 1287 1288 1306 144983 1785 220988 2273 22989 2316 2317 2318 3156 3178 3181 375033 4000 4001 4534 4606 4619 4625 5705 60 80781 80896 84465 84466 84823 8776 8898 9260	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110391	retinitis pigmentosa 31 Aliases: RP31	Topors	106021	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060218	CREST syndrome	CENPC FBN1	1060 2200	Homo sapiens (human)	Alliance of Genome Resources
DOID:2741	bilirubin metabolic disorder Aliases: hereditary hyperbilirubinemia hyperbilirubinemia	ABCC2 ABCC3 CALB1 F7 HGF SLCO1B1 SLCO1B3 SOD2 UGT1A1	10599 1244 2155 28234 3082 54658 6648 793 8714	Homo sapiens (human)	Alliance of Genome Resources
DOID:3571	liver cancer Aliases: Ca liver - primary Resectable malignant neoplasm of Liver hepatic cancer hepatic neoplasm malignant hepato-biliary neoplasm malignant neoplasm of liver malignant neoplasm of liver, not specified as primary or secondary malignant neoplasm of liver, primary malignant tumor of liver neoplasm of liver non-resectable primary hepatic malignant neoplasm primary liver cancer primary malignant neoplasm of liver resectable malignant neoplasm of the liver	ACOT12 ADAM28 CES1 CHUK IKBKB IL10 MRE11 PCNA POLE SETD2 SLCO1B1 SLCO2B1 XRCC1	10599 1066 10863 11309 1147 134526 29072 3551 3586 4361 5111 5426 7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110403	retinitis pigmentosa 13 Aliases: RP13	PRPF8	10594	Homo sapiens (human)	Alliance of Genome Resources
DOID:234	colon adenocarcinoma Aliases: Colonic adenocarcinoma adenocarcinoma of colon	ANXA7 APC BAX CA12 CHD4 CSF1R CTNNB1 CYP24A1 DAXX EEF2 FOSL2 FOXA1 HMGB1 KDM6A LOX MGMT MMP2 MMP9 MYD88 NOS2 PCSK5 PFAS PIK3CA PIK3R3 RAC1 RNASET2 SMC2 SRC SRSF4 SRSF5 SRSF6 STAT1 STAT3 STAT5A STAT5B STAT6 TET2 TGFB1 UBR5 VEGFC	10592 1108 1436 1499 1591 1616 1938 2355 310 3146 3169 324 4015 4255 4313 4318 4615 4843 5125 51366 5198 5290 54790 581 5879 6429 6430 6431 6714 6772 6774 6776 6777 6778 7040 7403 7424 771 8503 8635	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110297	autosomal recessive limb-girdle muscular dystrophy type 2K Aliases: LGMD2K MDDGC1 limb-girdle muscular dystrophy-intellectual disability syndrome muscular dystrophy limb-girdle type 2K muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1	POMT1	10585	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	POMT1	10585	Homo sapiens (human)	Alliance of Genome Resources

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