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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 **6976 - 7000** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:1209	nutritional optic neuropathy	ACE ACO2 AKR1B1 PRPS1 PTEN	1636 231 50 5631 5728	Homo sapiens (human)
DOID:8432	polycythemia Aliases: Erythrocythemia	ACE ACO1 ACSL6 AKR1C4 ALOX5 BPGM CALR CD177 CD33 CEL CH25H CHI3L1 CHIT1 CYB5R3 CYP1A1 CYP2B6 ENPP1 FH FUT1 G6PD HPGDS HPRT1 IDH1 IDH2 IL18R1 ISYNA1 LGALS1 LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PKLR PLAUR SMUG1 SOAT1	1056 1109 1116 1118 1543 1555 1636 1727 2271 23305 23583 240 2523 2539 27306 3251 3417 3418 3956 3958 48 51477 5167 5290 5291 5293 5294 5313 5329 57126 6646 669 811 8809 9023 945	Homo sapiens (human)
DOID:8997	polycythemia vera Aliases: Osler-Vaquez syndrome Polycythaemia rubra vera Proliferative polycythaemia chronic erythremia	ACE ACO1 ACSL6 AKR1C4 ALOX5 BPGM CALR CAT CD177 CD33 CD38 CEL CH25H CHI3L1 CHIT1 CYB5R3 CYP1A1 CYP2B6 ENPP1 FH FUT1 G6PD HPGDS ICAM1 IDH1 IDH2 IL18R1 ISYNA1 LGALS1 LGALS3 LPL PCYT1A PIGA PIK3CA PIK3CB PIK3CD PIK3CG PKLR PLAUR PTEN SDC1 SMUG1 SOAT1	1056 1109 1116 1118 1543 1555 1636 1727 2271 23305 23583 240 2523 2539 27306 3383 3417 3418 3956 3958 4023 48 5130 51477 5167 5277 5290 5291 5293 5294 5313 5329 57126 5728 6382 6646 669 811 847 8809 9023 945 952	Homo sapiens (human)
DOID:13068	renal osteodystrophy Aliases: renal rickets	ACE ACLY ATP6AP2 CD44 DLST FASN FH GPX1 ICAM1 ISYNA1 KL LCAT MBL2 MDH2 NAGLU NT5E OGA OLR1 PTGS2 SDHA SDHB SDHC SDHD ST3GAL4 VCAN VNN1	10159 10724 1462 1636 1743 2194 2271 2876 3383 3931 4153 4191 4669 47 4907 4973 51477 5743 6389 6390 6391 6392 6484 8876 9365 960	Homo sapiens (human)
DOID:13241	Behcet's disease Aliases: Adamantiades-Behcet disease Behcet syndrome Behet's syndrome triple symptom complex	ACE ACLY ADIPOQ ANXA5 ARSA CA4 CALR CAT CD14 CD209 CLEC16A CLEC7A CNTN5 CYP1A1 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 DHCR7 ENO1 FCGR3B FCN2 FUT2 GAL3ST1 GLB1 ICAM1 IL1R1 KLRC1 KLRD1 KLRK1 LGALS3 LYZ MBL2 MICA MRC1 NEIL1 PAFAH1B1 PLA2G1B PLA2G2A PLA2G6 PRSS21 SELE SELL SLC35A1 SOAT1 TLR2 TLR4 TNF TPI1 VCAM1	100507436 10559 10942 1543 1555 1557 1559 1591 1594 1636 1717 2023 2215 2220 22914 23274 2524 2720 308 30835 3383 3554 3821 3824 3958 4069 410 4153 4360 47 5048 5319 5320 53942 6401 6402 64581 6646 7097 7099 7124 7167 7412 762 79661 811 8398 847 929 9370 9514	Homo sapiens (human)
DOID:12720	cerebral atherosclerosis	ACE ACHE IMPA1	1636 3612 43	Homo sapiens (human)
DOID:13097	intracranial arteriosclerosis	ACE ACHE IMPA1	1636 3612 43	Homo sapiens (human)
DOID:9255	frontotemporal dementia Aliases: Wilhemsen-Lynch disease frontotemporal lobar degeneration multiple system tauopathy with presenile dementia pallidopontonigral degeneration	ACE ACHE CEACAM6 CHI3L1 CHIT1 CYP27A1 DLD EXT1 EXT2 FUT10 GFRA2 GLCE GLDC GNE MASP2 PLA2G6 PRNP PSAP SARM1 SMUG1 SPTLC1 ST3GAL4 SUCLA2 TMED9	10020 10558 10747 1116 1118 1593 1636 1738 2131 2132 23098 23583 26035 2675 2731 43 4680 54732 5621 5660 6484 8398 84750 8803	Homo sapiens (human)
DOID:11486	Horner's syndrome Aliases: Bernard Horner syndrome Horner syndrome cervical sympathetic paralysis	ACE ACHE ATP6AP2 COMT GLA PIK3CA PIK3CB PIK3CD PIK3CG PRNP SPTLC1 TM7SF2	10159 10558 1312 1636 2717 43 5290 5291 5293 5294 5621 7108	Homo sapiens (human)
DOID:0070123	congenital nongoitrous hypothyroidism 4 Aliases: CHNG4 isolated thyrotropin deficiency	ACE ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD HJV	145173 148738 1636 1946 2026 2539 427 43	Homo sapiens (human)
DOID:8725	vascular dementia Aliases: Multi Infarct Dementia multifocal dementia	ACE ACHE ARSA CHAT CHI3L1 CHIT1 CRLS1 G6PD GFRA1 GPI GPX1 GSK3B ICAM1 KL L2HGDH MASP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PRNP PTGS2 RGN SUCLA2 TNF TP53	1103 1116 1118 1636 2539 2674 2821 2876 2932 3383 410 43 5290 5291 5293 5294 5320 54675 5621 5648 5743 7124 7157 79944 8803 9104 9365	Homo sapiens (human)
DOID:2537	inflammatory and toxic neuropathy	ACE ACHE ARSA B3GAT1 BST1 CAT CD14 CD44 CD55 CHI3L1 COMT CYP7B1 DEGS1 FUCA1 GPI GPX1 HADHB HTR2A LGALS1 MAG NGLY1 OGG1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNP PNPLA6 PRKAA2 PRNP PRPS1 PSAP PTGS2 RPIA SCP2 SMUG1 TKT	10908 1116 1312 1604 1636 22934 23583 2517 27087 2821 2876 2923 3032 3356 3956 4099 410 43 4860 4968 5290 5291 5293 5294 5373 5563 55768 5621 5631 5660 5743 6342 683 7086 847 8560 929 9420 960	Homo sapiens (human)
DOID:12217	Lewy body dementia Aliases: Dementia with Lewy bodies Diffuse Lewy body disease Lewy body disease Senile dementia of the Lewy body type	ACE ACHE ANXA5 ASAH1 CHI3L1 COMT CYP2B6 DLD ENO2 EPHX2 GBA1 IGF2 IGF2R IMPA1 LGALS3 MAG MASP1 OGA PCNA PDHA1 PLA2G6 PLCG2 PRNP PTGS2 SMUG1 SUCLA2 TIGAR VCAM1	10724 1116 1312 1555 1636 1738 2026 2053 23583 2629 308 3481 3482 3612 3958 4099 427 43 5111 5160 5336 5621 5648 57103 5743 7412 8398 8803	Homo sapiens (human)
DOID:0050759	myotonic dystrophy type 2	ACE ACHE ALPP ATRNL1 CHI3L1 CNTN2 CYP2B6 CYP51A1 DAG1 FASN GAL3ST1 GCK HSPG2 IDS IL18R1 LPL MGAM MRC1 MTM1 MTMR1 PGD PGP PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLCB1 PRKAA2 PRNP QTRT1 SELE SELP SI SLC2A4 SLC35A1 SLC35G1 ST8SIA4 UGT8	10559 1116 1555 159371 1595 1605 1636 2194 23236 250 26033 2645 283871 3339 3423 4023 43 4360 4534 5226 5286 5290 5291 5293 5294 5563 5621 6401 6403 6476 6517 6900 7368 7903 81890 8776 8809 8972 9514	Homo sapiens (human)
DOID:11634	myxedema	ACE ACHE ALG8 ANXA5 ARSA ASAH1 B3GLCT BAAT CAT CDH13 COMT CPT1C CYP19A1 CYP2B6 EFNA5 ENO2 ENPP1 EXT2 FADS2 FASN FUCA1 G6PD GAS1 GLUL GNE GPC1 GPX1 HJV HSD17B3 HSD3B1 INPP5B L1CAM LGALS3 LIPC MBL2 MPDU1 NCAM1 PIK3C2A PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLOD3 PMM2 PNPLA3 PRKAA2 PTEN PTGS2 SGPL1 SLC2A12 SLC2A3 SLC2A8 SMUG1 SRD5A1 SRD5A3	10020 1012 126129 1312 145173 148738 154091 1555 1588 1636 1946 2026 2132 2194 23583 2517 2539 2619 2752 2817 2876 29988 308 3283 3293 3633 3897 3958 3990 410 4153 427 43 4684 5167 5286 5289 5290 5291 5293 5294 5320 5373 5563 570 5728 5743 6515 6715 79053 79644 80339 847 8879 8985 9415 9526	Homo sapiens (human)
DOID:0050328	congenital hypothyroidism	ACE ACHE ALG8 ANXA5 ARSA ASAH1 B3GLCT BAAT CAT CDH13 COMT CPT1C CYP19A1 CYP2B6 EFNA5 ENO2 ENPP1 EXT2 FADS2 FASN FUCA1 G6PD GAS1 GLUL GNE GPC1 GPX1 HJV HSD17B3 HSD3B1 INPP5B L1CAM LGALS3 LIPC MBL2 MPDU1 NCAM1 PIK3C2A PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLOD3 PMM2 PNPLA3 PPARGC1A PRKAA2 PTEN PTGS2 SGPL1 SLC2A12 SLC2A3 SLC2A8 SMUG1 SRD5A1 SRD5A3	10020 1012 10891 126129 1312 145173 148738 154091 1555 1588 1636 1946 2026 2132 2194 23583 2517 2539 2619 2752 2817 2876 29988 308 3283 3293 3633 3897 3958 3990 410 4153 427 43 4684 5167 5286 5289 5290 5291 5293 5294 5320 5373 5563 570 5728 5743 6515 6715 79053 79644 80339 847 8879 8985 9415 9526	Homo sapiens (human)
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	ACE ACHE ALG8 ANXA5 ARSA ASAH1 B3GLCT BAAT BAD CAT CDH13 COMT CPT1C CS CYP19A1 CYP2B6 EFNA5 ENO2 ENPP1 EXT2 FADS2 FASN FUCA1 G6PD GAS1 GLUL GNE GPC1 GPX1 HJV HSD17B3 HSD3B1 INPP5B L1CAM LGALS3 LIPC MBL2 MPDU1 NCAM1 NR1D1 PCNA PHKA1 PIK3C2A PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLOD3 PMM2 PNPLA3 PRKAA2 PTEN PTGS2 SGPL1 SLC2A12 SLC2A1 SLC2A3 SLC2A8 SMUG1 SRD5A1 SRD5A3 UCP2	10020 1012 126129 1312 1431 145173 148738 154091 1555 1588 1636 1946 2026 2132 2194 23583 2517 2539 2619 2752 2817 2876 29988 308 3283 3293 3633 3897 3958 3990 410 4153 427 43 4684 5111 5167 5255 5286 5289 5290 5291 5293 5294 5320 5373 5563 570 572 5728 5743 6513 6515 6715 7351 79053 79644 80339 847 8879 8985 9415 9526 9572	Homo sapiens (human)
DOID:11949	Creutzfeldt-Jakob disease Aliases: CJD Creutzfeldt Jacob syndrome Creutzfeldt Jakob disease Creutzfeldt-Jacob disease Jakob-Creutzfeldt disease Subacute spongiform encephalopathy Transmissible virus dementia	ACE ACHE ALG1 ALG3 ALPI ALPP AMT CAT CD33 CHGA CHI3L1 CHIT1 CYP46A1 DHCR24 ENO1 ENO2 FCN2 G6PD GALC GAPDHS GPI HPRT1 IDUA IGF2R INPP5D LGALS3 MDH1 MMUT MTMR7 NCAM1 OGDH PGAM1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLCG2 PRNP PTGES3 PTGS1 PTGS2 SDC3 SLC2A4 SMUG1 SRD5A3 STS SUCLA2 SULT1E1 SYNJ1 TPI1	10195 10728 10858 1113 1116 1118 1636 1718 2023 2026 2220 23583 248 250 2539 2581 26330 275 2821 3251 3425 3482 3635 3958 412 4190 43 4594 4684 4967 5223 5290 5291 5293 5294 5310 5336 56052 5621 5742 5743 6517 6783 7167 79644 847 8803 8867 9108 945 9672	Homo sapiens (human)
DOID:0060215	Balo concentric sclerosis Aliases: Balo disease Balo's concentric sclerosis Tumefactive multiple sclerosis	ACE ACHE ALDH7A1 ARSB CD38 CD44 CH25H CHAT CHKB COLGALT1 COMT CPT1B CYP1A2 CYP2B6 CYP2C9 CYP3A4 EBP ECHS1 EPM2A GAD2 GALNT14 GLB1 GPC5 HS6ST3 ICAM1 IDH2 IDS IDUA MBL2 MDGA2 MGAT1 MGLL NCAM1 NDST3 NYX PARP1 PIK3CD PLB1 PRNP PTEN RTN4R SGSH SLC17A5 SUMF1	10682 1103 1120 11343 1312 1375 142 151056 1544 1555 1559 1576 161357 1636 1892 2262 2572 26503 266722 2720 285362 3383 3418 3423 3425 411 4153 4245 43 4684 501 5293 5621 5728 60506 6448 65078 7957 79623 79709 9023 9348 952 960	Homo sapiens (human)
DOID:8986	narcolepsy Aliases: Narcolepsy, without cataplexy paroxysmal sleep	ACE ACHE ALDH7A1 ARSB CD38 CD44 CH25H CHAT CHKB COLGALT1 COMT CPT1B CYP1A2 CYP2B6 CYP2C9 CYP3A4 EBP ECHS1 EPM2A GAD2 GALNT14 GLB1 GPC5 HS6ST3 ICAM1 IDH2 IDS IDUA MBL2 MDGA2 MGAT1 MGLL NCAM1 NDST3 NYX PARP1 PIK3CD PLB1 PRNP PTEN RTN4R SGSH SLC17A5 SUMF1 UGCG	10682 1103 1120 11343 1312 1375 142 151056 1544 1555 1559 1576 161357 1636 1892 2262 2572 26503 266722 2720 285362 3383 3418 3423 3425 411 4153 4245 43 4684 501 5293 5621 5728 60506 6448 65078 7357 7957 79623 79709 9023 9348 952 960	Homo sapiens (human)
DOID:5409	lung small cell carcinoma	ACE ACHE AKR1B1 AKR1C1 B3GAT1 CALR CBR1 CD14 CD248 CD44 CD74 CEACAM5 CEACAM7 CHGA CHI3L1 CHST3 CNTN1 CNTN2 CYP1A1 CYP24A1 CYP2E1 CYP3A5 DAD1 DHDDS ENO2 FMOD GLB1 GLCE HPGDS HYAL1 HYAL2 ICAM1 IDH1 IL18R1 KL L1CAM LGALS3 LPL ME1 MICA MRC1 MSLN NAMPT NCAM1 PARP1 PFKFB4 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKM PLAUR PLPP5 POMK PTEN PTGS1 PTGS2 RTN4R SDHC SFTPA1 SFTPA2 SFTPC SFTPD SMUG1 STS UGT1A10 UGT1A1 VTCN1	100507436 10135 10232 1048 1087 1113 1116 1272 142 1543 1571 1577 1591 1603 1636 1645 2026 231 2331 23583 26035 27087 2720 27306 3373 3383 3417 3897 3958 4023 412 4199 43 4360 4684 5210 5287 5290 5291 5293 5294 5315 5329 54575 54658 57124 5728 5742 5743 6391 6440 6441 65078 653509 6900 729238 79679 79947 811 84197 84513 8692 873 8809 929 9365 9469 960 972	Homo sapiens (human)
DOID:0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2 Aliases: EDMD2 EMD2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy, autosomal dominant Hauptmann-Thannhauser muscular dystrophy autosomal dominant limb-girdle muscular dystrophy type 1B muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant scapuloilioperoneal atrophy with cardiopathy	ACE ACHE AGL APRT B3GALNT2 B4GALNT2 B4GAT1 CHKA CHKB CRPPA DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GK GLB1 GMPPB HPGDS IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 RXYLT1 SDC2 SI SYNJ1 SYNJ2	10329 10585 11041 1119 1120 120071 124872 142 148789 1605 1634 1636 178 1800 2023 2218 2710 2720 27306 29925 29954 3418 353 3612 3633 3958 4153 43 51763 5286 5373 54344 5553 55624 56983 6383 6476 729920 79147 84197 84892 8813 8818 8867 8871 8972 9215	Homo sapiens (human)
DOID:0080094	myofibrillar myopathy 3 Aliases: LGMD 1A autosomal dominant limb-girdle muscular dystrophy type 1A myotilinopathy spheroid body myopathy	ACE ACHE AGL APRT B3GALNT2 B4GALNT2 B4GAT1 CHKA CHKB CRPPA DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GK GLB1 GMPPB HPGDS IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 RXYLT1 SDC2 SI SYNJ1 SYNJ2	10329 10585 11041 1119 1120 120071 124872 142 148789 1605 1634 1636 178 1800 2023 2218 2710 2720 27306 29925 29954 3418 353 3612 3633 3958 4153 43 51763 5286 5373 54344 5553 55624 56983 6383 6476 729920 79147 84197 84892 8813 8818 8867 8871 8972 9215	Homo sapiens (human)
DOID:0080092	myofibrillar myopathy 1 Aliases: autosomal recessive limb-girdle muscular dystrophy type 2R desminopathy	ACE ACHE AGL APRT B3GALNT2 B4GALNT2 B4GAT1 CHKA CHKB CRPPA DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GK GLB1 GMPPB HPGDS IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM MTM1 PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 RXYLT1 SDC2 SDHB SI SORD SYNJ1 SYNJ2	10329 10585 11041 1119 1120 120071 124872 142 148789 1605 1634 1636 178 1800 2023 2218 2710 2720 27306 29925 29954 3418 353 3612 3633 3958 4153 43 4534 51763 5286 5373 54344 5553 55624 56983 6383 6390 6476 6652 729920 79147 84197 84892 8813 8818 8867 8871 8972 9215	Homo sapiens (human)
DOID:0060255	rippling muscle disease 2 Aliases: autosomal dominant limb-girdle muscular dystrophy type 1C	ACE ACHE AGL APRT B3GALNT2 B4GALNT2 B4GAT1 CHKA CHKB CHPT1 CRPPA DAG1 DCN DHDDS DPEP1 DPM1 DPM2 DPM3 ENO1 FASN FKRP FKTN GK GLB1 GMPPB HPGDS IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 RXYLT1 SDC2 SI SYNJ1 SYNJ2	10329 10585 11041 1119 1120 120071 124872 142 148789 1605 1634 1636 178 1800 2023 2194 2218 2710 2720 27306 29925 29954 3418 353 3612 3633 3958 4153 43 51763 5286 5373 54344 5553 55624 56983 56994 6383 6476 729920 79147 79947 84197 84892 8813 8818 8867 8871 8972 9215	Homo sapiens (human)

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