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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3951 - 3975** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0110252	cataract 37 Aliases: CTRCT37	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:0111069	congenital bile acid synthesis defect 2 Aliases: CBAS2 cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency	GCY1 YPR1	851974 854287	Saccharomyces cerevisiae S288C
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	COLGALT1	79709	Homo sapiens (human)
DOID:8857	lupus erythematosus Aliases: lupus	ACE AKR1C4 BDH2 BST2 CALR CAT CD14 CD1D CD209 CD38 CD44 CD48 CD72 CDH13 CHST12 CYP1A1 CYP2B6 DGAT1 DLAT EFNA2 EPHX2 FCGR3B FCN2 GPI HSPG2 ICAM1 KLRK1 LCT LGALS3 LGALS9 MASP1 MBL2 MRC1 NT5E PARP1 PC PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2R1 PNP PTGS1 PTGS2 SDC2 SELP SGMS1 SIGLEC1 SPHK2 SRGN UMOD VCAM1 VTCN1	1012 1109 142 1543 1555 1636 1737 1943 2053 2215 2220 22914 22925 259230 2821 30835 3339 3383 3938 3958 3965 4153 4360 4860 4907 5091 5230 5290 5291 5293 5294 55501 5552 5648 56848 56898 5742 5743 6383 6403 6614 684 7369 7412 79679 811 847 8694 912 929 952 960 962 971	Homo sapiens (human)
DOID:0081002	Cowden syndrome 6	AKT1	207	Homo sapiens (human)
DOID:6364	migraine Aliases: migraine disorder migraine variant migraine with or without aura	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:0060771	obsolete dextro-looped transposition of the great arteries 1	CFC1 FKTN GPC3 HSPG2 PIGL	2218 2719 3339 55997 9487	Homo sapiens (human)
DOID:3633	beta-mannosidosis Aliases: Beta-D-mannosidosis beta-mannosidase deficiency lysosomal beta-mannosidase deficiency	Manba	310864	Rattus norvegicus (Norway rat)
DOID:4905	pancreatic carcinoma Aliases: Exocrine pancreas carcinoma carcinoma of pancreas	A4GNT ABO ACADS ACE ACO1 ADH1A ADH1B ADH1C ADH4 ADH6 AGPAT1 AKR1A1 AKR1B10 AKR1B1 ALDH1A3 ALDH1B1 ALDH2 ALDOA ALOX12B ALOX15 ALOX5 ALPI ALPP ANXA5 APRT ART1 ASAH1 B3GALT5 B3GNT6 BCKDHB BPHL C1GALT1C1 CALR CAT CBR1 CD109 CD14 CD248 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CHGA CHI3L1 CHKA CHPT1 CHST15 CHSY3 CLEC14A CLEC7A COMT CS CYP17A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP2B6 CYP2C19 CYP2R1 CYP3A4 CYP51A1 DAG1 DCN DCTD DGKA DHCR24 DHDDS DLD DPEP1 EFNA2 ENO1 ENPP1 EPHX2 FADS1 FASN FBP1 FCGR3B FCN2 FDPS FH FOLR1 FOLR2 FUT3 FUT4 GAD1 GAD2 GALNT14 GALNT3 GALNT5 GAPDH GCK GCNT1 GCNT3 GFPT1 GFRA1 GFRA2 GGT1 GLO1 GLUL GNE GP2 GPC1 GPC3 GPC5 GPI GPNMB GPX1 GPX2 GUSB HK2 HMMR HPGDS HPSE HS3ST3B1 HSPG2 HYAL1 ICAM1 ICAM2 IDH1 IGF2R IL18R1 INPP4A INPP4B KL KLRK1 L1CAM LDHA LDHB LFNG LGALS1 LGALS3 LGALS4 LGALS9 LTA4H LYPD5 MACROD1 MCAT MDH1 ME2 ME3 MICA MMUT MRC1 MSLN MTAP MUTYH NAMPT NEU2 NT5E OGDHL OGG1 OGT OLR1 PAFAH1B2 PARG PARP10 PARP14 PARP1 PARP4 PCYT1A PDHX PFKFB4 PFKM PFKP PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2B PIP5K1A PIP5K1B PKD1 PKLR PKM PLA2G4A PLAUR PNLIP PNP PNPLA2 PRKAA2 PRNP PSMD10 PTEN PTGES PTGS1 PTGS2 REG3G RGN SDC1 SDC3 SELE SELP SEMA7A SFTPD SGMS1 SIRT2 SIRT4 SIRT6 SLC35F6 SLC5A1 SMUG1 SOAT1 SPHK1 SPHK2 ST3GAL4 ST6GAL1 SULF1 SULF2 TDG TM7SF2 TNFRSF10C TUSC3 TYMP UGP2 UGT1A1 UGT1A3 UGT1A7 UGT8 ULBP2 UMPS VCAN VTCN1	10020 100507436 1012 10135 10232 10317 10327 10457 1048 10554 1056 10855 1087 10873 1113 1116 1119 11227 120227 124 125 126 127 130 130120 1312 135228 142 143 1431 1462 1543 1544 1545 1555 1557 1576 1586 1591 1595 1605 1606 161198 1634 1635 1636 1718 1738 1800 1890 192134 1943 2023 2053 217 219 2194 220 2203 2215 2220 2224 226 2262 2271 22914 22933 231 23213 23409 2348 2350 23583 240 242 246 248 250 2525 2526 2571 2572 2591 259230 2597 2645 2650 2673 2674 2675 2678 2719 27306 27349 2739 2752 28 2813 2817 2821 284348 2876 2877 28992 29071 2990 308 3099 3161 3339 3373 337876 3383 3384 3417 3482 35 353 3631 3897 3939 3945 3955 3956 3958 3960 3965 3992 4048 417 4190 4200 427 4360 4507 4594 4595 4680 4759 48 4860 4907 4968 4973 5049 51146 5130 51363 51548 5167 5210 5213 5214 5230 5290 5291 5293 5294 5310 5313 5315 5321 5329 5406 54577 54625 54658 54659 54978 5563 55753 55959 5621 56848 56994 57016 57104 57124 5716 57214 5728 5742 5743 594 6382 6401 6403 6441 64581 6480 6484 6523 6646 670 6996 7108 7360 7368 7372 79623 79679 7991 79947 80328 8050 811 8394 8395 8396 847 8473 8482 84875 8505 873 8794 8809 8821 8877 9104 9245 929 9365 9536 960 9672 972 9953	Homo sapiens (human)
DOID:0060874	isolated growth hormone deficiency type IB Aliases: IGHD IB congenital IGHD type IB congenital isolated GH deficiency type IB congenital isolated growth hormone deficiency type IB dwarfism of Sindh	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:0060775	microvillus inclusion disease Aliases: Davidson disease MVD congenital familial protracted diarrhea with enterocyte brush-border abnormalities congenital microvillus atrophy diarrhea 2 with microvillus atrophy intractable diarrhea of infancy	DGAT1	8694	Homo sapiens (human)
DOID:0080546	non-alcoholic fatty liver Aliases: NAFL nonalcoholic fatty liver	GGT1 HTR2A	2678 3356	Homo sapiens (human)
DOID:9206	Barrett's esophagus Aliases: Barrett esophagus Barrett's esophagus with esophagitis Barrett's oesophagus Barrett's ulcer of esophagus Barretts syndrome ulcerative esophagitis	B3gat2	280645	Mus musculus (house mouse)
DOID:0110166	Charcot-Marie-Tooth disease axonal type 2H Aliases: AR-CMT2C Autosomal recessive axonal CMT4C2 Axonal Charcot-Marie-Tooth disease with pyramidal involvement CMT2H Charcot-Marie-Tooth disease type 2H autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11 Aliases: MDDGA11 Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11	B3galnt2	291212	Rattus norvegicus (Norway rat)
DOID:0050636	familial visceral amyloidosis Aliases: AMYLOIDOSIS, FAMILIAL RENAL German type amyloidosis OSTERTAG TYPE AMYLOIDOSIS systemic nonneuropathic amyloidosis	LysB LysD LysE LysP LysS LysX	38122 38125 38127 38128 38129 38130	Drosophila melanogaster (fruit fly)
DOID:0110211	Charcot-Marie-Tooth disease X-linked recessive 3 Aliases: CMT3X CMTX3 Charcot-Marie-Tooth neuropathy X-linked recessive 3 X-linked Charcot-Marie-Tooth disease type 3	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:14115	toxic shock syndrome Aliases: TSS toxic shock	Eno2 Tnf	13807 21926	Mus musculus (house mouse)
DOID:2945	severe acute respiratory syndrome Aliases: SARS SARS-CoV infection	Abo Il1r1 Tlr2 Tnf	16177 21926 24088 80908	Mus musculus (house mouse)
DOID:0111005	cone-rod dystrophy 2 Aliases: CORD2 CRD2 RCRD2 cone-rod retinal dystrophy 2 retinal cone-rod dystrophy 2	ALOX12 CACNA2D4 CD38 CNTN3 CNTN6 CYP19A1 ELOVL4 GAL3ST1 H6PD HSD11B1 LGALS1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN RGMA SIGLEC7 SLC35A1 SOAT1	10559 1588 239 27036 27255 3290 3956 5067 5290 5291 5293 5294 56963 5728 6646 6785 93589 9514 952 9563	Homo sapiens (human)
DOID:0060229	Baraitser-Winter syndrome	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:1612	breast cancer Aliases: breast tumor malignant neoplasm of breast malignant tumor of the breast mammary cancer mammary tumor primary breast cancer	ATG26 CBR1 CTS2 DPM1 GCY1 OGG1 RHO1 YPR1	850886 851974 851977 854287 854768 854942 856294 856313	Saccharomyces cerevisiae S288C
DOID:14365	systemic primary carnitine deficiency disease Aliases: carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect	ACADM CD55 CHPT1 CPT1A CPT1B CPT2 IMPA1 LFNG MBL2 PNPLA2 SCD5 SCD SFTPD	1374 1375 1376 1604 34 3612 3955 4153 56994 57104 6319 6441 79966	Homo sapiens (human)
DOID:0080998	acute necrotizing pancreatitis	Tl	43222	Drosophila melanogaster (fruit fly)
DOID:0050830	peripheral artery disease	Adipoq Npy1r	11450 18166	Mus musculus (house mouse)

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