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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 **7201 - 7225** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:3211	lysosomal storage disease Aliases: disorder of lysosomal enzyme inborn lysosomal enzyme disorder lysosomal storage metabolism disorder	Hexb	15212	Mus musculus (house mouse)
DOID:0110510	autosomal recessive nonsyndromic deafness 55 Aliases: DFNB55 autosomal recessive deafness 55	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:4608	common bile duct neoplasm Aliases: neoplasm of common bile duct	MEU1	850704	Saccharomyces cerevisiae S288C
DOID:0080556	congenital disorder of glycosylation Id Aliases: congenital disorder of glycosylation 1d	algn-3	175065	Caenorhabditis elegans
DOID:0060263	porencephaly	COLGALT1	79709	Homo sapiens (human)
DOID:4730	vasomotor rhinitis	ABO ACACA ACE ADH1B AGXT AKR1B1 AMY1A AMY1B AMY1C CAT CD14 CHI3L1 CHIA CHIT1 CLC CLEC16A CTBS ENPP3 HACD1 ICAM1 IL18R1 IL1RL1 IL1RL2 KLB KLRC1 LGALS3 LTC4S LYZ MBL2 NEU1 NEU2 NT5E PARP1 PCYT1B PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G7 PLB1 PLCG2 PTGS2 SFTPA1 SFTPA2 SFTPD SIGLEC7 SOAT1 ST8SIA2 UGT8	1116 1118 1178 125 142 1486 151056 152831 1636 189 231 23274 27036 27159 276 277 278 28 31 3383 3821 3958 4056 4069 4153 4758 4759 4907 5169 5238 5290 5291 5293 5294 5319 5336 5743 6441 653509 6646 729238 7368 7941 8128 847 8808 8809 9173 9200 929 9468	Homo sapiens (human)
DOID:0060469	Miller-Dieker lissencephaly syndrome Aliases: MDS Miller-Dieker syndrome	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CD33 CD38 CRPPA CYP2B6 DAG1 DHCR24 DLST FIG4 FKRP FKTN GAD2 HSPG2 LARGE1 NSDHL NT5M PAFAH1B1 PIGA PIGN PIGP PIGQ PLCB1 PLCE1 PLCG1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PTEN RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 1555 160418 1605 1718 1743 2218 23236 23545 23556 2572 29954 3339 412 5048 50814 51196 51227 523 5277 5335 55624 56953 5728 6383 729920 79147 84197 84892 9091 9215 945 952 9896	Homo sapiens (human)
DOID:8398	osteoarthritis Aliases: Osteoarthrosis and allied disorder degenerative arthritis degenerative joint disease hypertrophic arthritis osteoarthrosis	ABAT ABO ACAA2 ACAN ACE ACLY ACO1 ACSL4 ACSL6 AKR1C1 AKR1C2 ALDOA ALOX15 ALOX5 ALPL ANXA5 APRT ARSA B3GAT1 B4GALNT3 B4GALT7 BAD BST2 CALR CAT CD14 CD38 CD44 CEMIP CH25H CHAT CHGA CHI3L1 CHI3L2 CHIT1 CHST11 CHST13 CHST4 CLC CLEC3A CLEC5A CLEC7A COG5 COL9A2 COLGALT2 COMT CSPG4 CYP19A1 CYP1B1 CYP7B1 DCN DPEP1 ENO1 ENPP1 ERRFI1 EXT1 EXT2 FASN FCGR3B FH FMOD FUT1 FUT2 FUT4 GAL3ST1 GALNT3 GANAB GAPDH GBA1 GCK GGT1 GLA GLB1 GLO1 GLT8D1 GMDS GPC3 GPD1L GPI GPNMB GPX1 HADHA HAS1 HIBCH HK1 HK2 HMMR HPGDS HPRT1 HPSE HS6ST2 HSD11B1 HSPG2 HYAL1 HYAL2 ICAM1 IDH2 IDH3A IGF2 IL18R1 IL1R1 IL1RL2 INPP5D INS ISYNA1 KL KLRB1 LAYN LCTL LEP LGALS1 LGALS3 LGALS8 LGALS9 MMP25 MRC1 MUTYH NAAA NAMPT NCAM1 NT5E OCRL OLR1 OPCML PAPSS2 PARP1 PCYT1A PDHA1 PDIA3 PFKFB3 PGAM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G4A PLA2G4F PLAUR PLB1 PLCD1 PLCG1 PNPLA3 PRKAA2 PRNP PTEN PTGDS PTGES PTGS1 PTGS2 RECK RENBP SCD5 SDC1 SDC4 SDHA SELE SFTPD SGSH SHMT2 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC26A2 SLC35A1 SLC39A8 SMUG1 SOAT1 SPHK1 SPHK2 SRGN STS SULF1 SULF2 TKTL1 TM7SF2 TNFRSF10C TNKS TPI1 UST VCAM1 XYLT1	10090 10135 10143 10164 10449 10457 10466 10559 10855 1103 1113 1116 1117 1118 11285 1178 1298 1312 142 143903 1464 151056 1545 1588 1634 1636 1645 1646 166012 176 18 1800 1836 197021 2023 2131 2132 2182 2194 2215 226 2271 22933 23127 23171 23193 23213 23305 2331 23583 23601 240 246 249 2523 2524 2526 255189 2591 2597 26275 2629 2645 26503 2678 27036 27087 27163 2717 2719 2720 27306 2739 2762 28 2821 283358 2876 2923 3030 3036 308 3098 3099 3161 3251 3290 3339 3373 3383 3418 3419 3481 353 3554 3630 3635 3820 3952 3956 3958 3964 3965 410 412 4360 4595 4684 47 48 4907 4952 4973 4978 50515 5130 51477 51548 5160 5167 5209 5223 5290 5291 5293 5294 5315 5319 5321 5329 5333 5335 54206 5552 5563 55830 55959 5621 56848 572 57214 5728 5730 5742 5743 5973 6382 6385 6389 6401 64116 64131 64386 6441 6448 64581 6472 6646 684 7108 7167 7412 79966 80339 811 8277 8434 847 8658 8692 8794 8808 8809 8877 90161 9023 9060 929 9365 9420 9514 952 9536 960	Homo sapiens (human)
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	APRT HPRT1 PNP	3251 353 4860	Homo sapiens (human)
DOID:0060390	distal 10q deletion syndrome Aliases: chromosome 10q26 deletion syndrome distal monosomy 10q monosomy 10qter telomeric deletion 10q terminal chromosome 10q26 deletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:1712	aortic valve stenosis Aliases: Aortic stenosis Rheumatic aortic stenosis rheumatic aortic valve stenosis	ENO1 ENO2 ERR1 ERR2 ERR3	853169 854575 855373 855848 856579	Saccharomyces cerevisiae S288C
DOID:1964	fallopian tube cancer Aliases: fallopian tube neoplasm malignant neoplasm of uterine tube malignant tumor of fallopian tube malignant tumour of fallopian tube neoplasm of fallopian tube tumor of the fallopian tube tumor, fallopian tube, malignant	MRC1	4360	Homo sapiens (human)
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	ST3GAL3	6487	Homo sapiens (human)
DOID:612	primary immunodeficiency disease Aliases: hypoimmunity immune deficiency disorder immunodeficiency syndrome	ACSBG1 AGL AGPAT2 AKR1B10 APRT ARSA BST2 CALR CD14 CD33 CD38 CD44 CEACAM5 CLEC16A CLEC9A CMAS COG6 COMT CYP2B6 DLD FASN FCN2 FCN3 G6PC3 G6PD GAA GLB1 GPC3 GPI HPSE HSD17B7 ICAM1 IDH1 IL18R1 IL6ST KLRD1 LGALS1 LGALS3 MAN2B2 MBL2 MICA MLYCD MMUT NT5E OAS1 PARP1 PGM3 PIGQ PIK3CA PIK3CB PIK3CD PIK3CG PLD1 PNP PPT1 PRPS1 PTEN PTGS1 PTGS2 SCD5 SDC1 SOAT1 ST6GAL1 ST8SIA1 TLR4 UNG VTCN1	100507436 1048 10555 10855 1312 142 1555 1738 178 2194 2220 23205 23274 23324 23417 2539 2548 2719 2720 2821 283420 3383 3417 353 3572 3824 3956 3958 410 4153 4594 4860 4907 4938 51478 5238 5290 5291 5293 5294 5337 5538 55907 5631 57016 5728 5742 5743 57511 6382 6480 6489 6646 684 7099 7374 79679 79966 811 8547 8809 9091 92579 929 945 952 960	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:4176	blood group incompatibility	ABO G6PD	2539 28	Homo sapiens (human)
DOID:12241	beta thalassemia	ACOT7 ANXA5 CAT CD177 CD38 CD55 CHIT1 CHPT1 CPT1A CPT2 CRYL1 CYP2E1 CYP3A4 FUT1 FUT4 G6PD H6PD HACD1 HJV HPGDS KL LPCAT3 OGA PC PGD PRKCSH SCD SELP SLC35A2 TNF UGDH UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS	10162 10724 1118 11332 1374 1376 148738 1571 1576 1604 2523 2526 2539 27306 308 5091 51084 5226 54575 54576 54577 54578 54579 54600 54657 54658 54659 5589 56886 56994 57126 6319 6403 7124 7355 7358 7372 847 9200 9365 952 9563	Homo sapiens (human)
DOID:0080348	Alzheimer's disease 1 Aliases: Alzheimer's disease 1, early onset	ABO ACACA ACADVL ACAT1 ACE ACHE ACO1 ACO2 ACOT7 ACOT8 ACSL6 ACSS2 AGPS AGRN AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH7A1 ALOX12 ALOX5 ALPI ALPP ANXA5 APRT ARSA ASAH1 ATRNL1 B3GALT4 B3GAT1 BCAN BST1 CALR CAT CD14 CD177 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CFC1 CH25H CHAT CHI3L1 CHIT1 CLC CLEC16A CLEC1B CLEC7A CLN5 CNTN1 CNTN2 COG5 COLGALT2 COMT CPO CPT1A CRYL1 CS CSPG4 CTNS CYP11A1 CYP17A1 CYP19A1 CYP1A2 CYP27A1 CYP2B6 CYP2C9 CYP2J2 CYP3A4 CYP46A1 CYP7B1 CYP8B1 DCN DEGS1 DGKQ DHCR24 DHRS11 DLD DLST DPEP2 EDEM2 EFNA5 ENO1 ENO2 ENPP2 EPHX2 FASN FBXO2 FCGR3B FCN2 FDPS FOLR2 G6PD GAD1 GAD2 GALNS GAPDH GAPDHS GBA1 GFRA1 GGT1 GLB1 GLO1 GLUL GNE GNPAT GNPDA2 GOLPH3 GPAA1 GPC1 GPC6 GPI GPNMB GPX1 GTDC1 GUSB HAS1 HAS3 HK1 HMGCS2 HPGDS HPSE2 HPSE HS3ST1 HSD11B1 HSD17B1 HSD17B4 HSD17B6 HSD17B7 HSPG2 HYI ICAM1 IDH1 IDH2 IGF2R IL1R1 IL1RAP IL1RL1 IMPA1 INPP5D INPP5K INPPL1 ITPKB KL KLRC1 L1CAM LCAT LCT LDHA LGALS3 LGALS4 LGALS9 LIPA LIPC LIPG LPL LTC4S LYZ LYZL4 MAG MASP1 MBL2 MDH2 MELTF MGAT3 MGLL MICA MMUT MOGAT3 MPG MPI MRC1 NAAA NAMPT NANS NCAM1 NEU1 NPL NT5E OGA OGDH OGDHL OGG1 OGT OLR1 PAFAH1B2 PARP1 PC PCK1 PCYT1A PCYT1B PEMT PFKFB3 PGD PGP PI4KA PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCG2 PLD1 PLD2 PLD3 PLPP4 PMM2 PNP PNPLA2 PNPLA7 PPT1 PRG2 PRKAA2 PRNP PTDSS1 PTEN PTGDS PTGES2 PTGES3 PTGES PTGS1 PTGS2 RENBP RGN RTN4R SCD5 SCD SCP2 SDC2 SDC3 SDCBP2 SFTPA1 SFTPC SGMS2 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35A2 SMPD2 SMPD3 SMUG1 SOAT1 SPHK1 SPHK2 SQLE ST3GAL4 ST6GAL1 ST8SIA1 STS SUCLA2 SUCLG2 SYNJ1 TIGAR TKT TM7SF2 TMED9 TPI1 UGCG UGT1A1 UMOD UNG VCAM1 VCAN	10005 10020 100507436 10082 1012 10135 10327 10400 10457 10466 1048 10559 10724 10728 10855 10858 1103 1109 1116 1118 11332 11343 1178 1203 1272 130749 1312 131375 132789 1374 142 1431 1462 1464 1497 151056 1544 1555 1559 1573 1576 1582 1583 1586 1588 1593 1604 1609 1634 1636 1646 166929 1718 1738 1743 1946 196051 200576 2023 2026 2053 217 2194 2215 2220 2224 22933 23127 23236 23274 23305 2350 23583 23646 23659 239 240 248 250 2539 2571 2572 2588 2597 26033 26232 2629 26330 2674 2678 27036 27087 27111 27163 2720 27306 2739 2752 28 2817 2821 283871 2876 2990 3036 3038 308 30835 3098 31 3158 3290 3292 3295 3339 3383 3417 3418 346606 3482 353 3554 3556 3612 3635 3636 37 3707 375775 375790 38 3821 3897 3931 3938 3939 3958 3960 3965 3988 3990 4023 4056 4069 4099 410 412 4153 4191 4241 4248 427 43 4350 4351 4360 4594 4684 4758 48 4860 4907 4967 4968 4973 50 501 5049 5091 5105 51084 51266 5130 51478 51548 5168 51763 5209 5226 5289 5290 5291 5293 5294 5297 5315 5319 5320 5321 5329 5336 5337 5338 5373 54187 54658 54732 5538 55512 5553 5563 55741 55753 55902 55997 5621 5648 56848 57103 57104 57126 5728 5730 5742 5743 5973 60495 6319 6342 63827 6383 64083 64174 6440 6448 64581 6476 6480 6484 6489 65078 6515 6517 653509 6610 6646 6713 683 6900 7086 7108 7167 7355 7357 7369 7374 7412 79154 7941 79712 79966 80142 80896 811 81888 8398 8443 847 8473 8540 8560 8630 8705 8733 8801 8803 8867 8877 9023 9104 9173 9197 929 9365 9388 9420 945 9468 952 9536 960 9672 972 9791 9957	Homo sapiens (human)
DOID:0070265	congenital disorder of glycosylation type IIm Aliases: SLC35A2-CDG congenital disorder of glycosylation type 2m developmental and epileptic encephalopathy 22 epileptic encephalopathy, early infantile, 22	SLC35A2	7355	Homo sapiens (human)
DOID:3492	mixed connective tissue disease Aliases: Connective tissue disease overlap syndrome mixed collagen vascular disease	NCAM1 SFTPD TNF	4684 6441 7124	Homo sapiens (human)
DOID:4989	pancreatitis	Htr2a Lepr Tlr2 Tlr4	15558 16847 21898 24088	Mus musculus (house mouse)
DOID:0110430	dilated cardiomyopathy 1G Aliases: CMD1G	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:26	pancreas disease	ACE ALDH2 CEL CYP2E1 MSLN PLA2G2A PRPS1 PTEN	10232 1056 1571 1636 217 5320 5631 5728	Homo sapiens (human)
DOID:0080562	congenital disorder of glycosylation Ij Aliases: Congenital disorder of glycosylation 1j	dpagt1	566539	Danio rerio (zebrafish)
DOID:6682	spondylolisthesis	ACSS2 AGA B3GLCT CD38 COLEC10 COLEC11 EBP IDUA INPP5E LFNG MAN2B1 MASP1 PLA2G15	10584 10682 145173 175 23659 3425 3955 4125 55902 5648 56623 78989 952	Homo sapiens (human)

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