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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 **6926 - 6950** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:4336	tinea favosa Aliases: favus	CLEC6A CLEC7A	64581 93978	Homo sapiens (human)
DOID:3690	brachial plexus neuropathy Aliases: Brachial plexus disorder brachial plexopathy	SMUG1	23583	Homo sapiens (human)
DOID:1040	chronic lymphocytic leukemia Aliases: B-cell chronic lymphocytic leukaemia B-cell chronic lymphocytic leukemia CLL chronic lymphatic leukaemia chronic lymphatic leukemia chronic lymphocytic leukaemia lymphoplasmacytic leukaemia lymphoplasmacytic leukemia	ABO ACE ACSBG1 AKR1C4 ALDH7A1 ANXA5 ANXA7 APRT ARSD ARSH B3GAT1 B4GALNT1 BST1 CALR CD14 CD1D CD22 CD33 CD38 CD44 CD55 CD74 CHST11 CLEC12A CLEC17A COG1 COLEC10 CSPG4 CYP1A1 CYP2B6 CYP2C9 DCN ENO1 FASN FCER2 FCGR3B FH FKRP FMOD G6PD GALNS GALNT11 GLB1 GPLD1 GUSB HAS1 HK1 HMMR HPGDS HPSE2 HSPG2 ICAM1 IDH1 IDH2 IDUA IL18R1 IL18RAP IL1RL1 INPPL1 ISYNA1 LGALS1 LGALS3 LGALS9 LPIN1 LPL MBL2 MCAT MGAT5 MRC1 NDUFAB1 NT5E PARP1 PARP9 PCYT1A PGM3 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PLCG2 PNP PTEN PTGS2 RENBP SDC1 SDHB SELL SI SIGLEC6 SIGLEC7 SIRT2 SLC2A4 SLC35B2 SMUG1 SULT1E1 TIGAR TNFRSF10C UGT2B17 VCAM1	10584 1109 142 1464 1543 1555 1559 160364 1604 1634 1636 2023 2194 2208 2215 2271 22933 23175 23205 2331 23583 2539 2583 2588 27036 27087 2720 27306 27349 28 2822 2990 3036 308 3098 310 3161 3339 3383 3417 3418 3425 347527 347734 353 3636 388512 3956 3958 3965 4023 414 4153 4249 4360 4706 4860 4907 501 50515 5130 51477 5238 5287 5290 5291 5293 5294 5335 5336 57103 5728 5743 5973 60495 6382 6390 63917 6402 6476 6517 6783 683 7367 7412 79147 811 83666 8794 8807 8809 912 9173 929 933 9382 945 946 952 960 972	Homo sapiens (human)
DOID:5812	MHC class II deficiency Aliases: BLSII SCID due to absent class II HLA antigens bare lymphocyte syndrome type II	AMACR CD38 CEACAM5 CEACAM7 CYP2J2 EXTL3 FUT1 GPC5 HPSE IL18R1 LDHC LGALS1 MELTF NCAM1 NT5E PARP1 PDHX PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN PTGS2 SOAT1 SRGN	1048 10855 1087 142 1573 2137 2262 23600 2523 3948 3956 4241 4684 4860 4907 5238 5290 5291 5293 5294 5552 5728 5743 6646 8050 8809 952	Homo sapiens (human)
DOID:2786	cerebellar disease	ACER3 ACHE ARSA ARSG CACNA2D2 CAT CLN5 CYP7B1 DLD ELOVL4 ELOVL5 ENO2 GAA GAD1 GAD2 GALC GALT GBA2 GLB1 HSD17B4 MAG OGG1 PARP1 PCYT1A PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G6 PMM2 PNPLA6 PPT2 PRNP SRD5A3	10908 1203 142 1738 2026 22901 2548 2571 2572 2581 2592 2720 3295 4099 410 43 4968 5130 5160 5290 5291 5293 5294 5373 55331 5621 57704 60481 6785 79644 8398 847 9254 9374 9420	Homo sapiens (human)
DOID:9455	lipid storage disease Aliases: Lipoid storage diseas inborn lipid storage disorder lipoidosis	AGA ARSA ARSB ASAH1 CAT CEL CHIT1 CTSA CYP27A1 FADS2 G6PC1 G6PD GAA GALC GBA1 GBE1 GDPD3 GLA GLB1 GNPTAB GNPTG GUSB ICAM1 IDS IDUA LGALS3 LIPA LIPF LPL LSS MANBA MGAM NAGA NAGPA NCAM1 NT5E OGA PSAP PTGDS SCD SELE SFTPD SI SLC2A3 SMPD1 SMUG1 SOAT2 UGCG UGT1A1 UMOD VCAM1	1056 10724 1118 1593 175 23583 2538 2539 2548 2581 2629 2632 2717 2720 2990 3383 3423 3425 3958 3988 4023 4047 410 411 4126 427 4668 4684 4907 51172 54658 5476 5660 5730 6319 6401 6441 6476 6515 6609 7357 7369 7412 79153 79158 8435 84572 847 8513 8972 9415	Homo sapiens (human)
DOID:12858	Huntington's disease Aliases: HD Huntington disease Huntington's chorea	ABAT ACE ACHE ACO1 ACO2 ACSBG1 ALDH7A1 ALOX5 ALPI ALPP APRT ATRNL1 CAT CD14 CERS1 CHAT CHI3L1 CNTN1 COMT CS CYP3A4 CYP46A1 DGKE DHCR24 FCGR3B GAD2 GAPDH GBA2 GLO1 GLUL GPX1 GPX6 GPX7 GYS1 HACD1 HJV HPGDS HSD17B6 IDH1 IDUA IPMK KL LEP LGALS3 LPL MBL2 MGLL MRC1 MUTYH NAAA NCAM1 NT5E OGG1 PARP1 PC PGD PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PNP PPARGC1A PPT1 PRKAA1 PRKAA2 PRNP PTGS2 QPRT RENBP SGPL1 SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A4 SLC39A8 SMUG1 SPHK1 SPHK2 SPTLC1 ST8SIA4 STS TM7SF2 TMED9 UCP2 UGT1A1	10558 10715 10858 10891 1103 1116 11343 1272 1312 142 1431 148738 1576 1636 1718 18 2215 22933 23205 23475 23583 240 248 250 253430 2572 257202 2597 26033 27036 27163 27306 2739 2752 2876 2882 2997 3417 3425 353 3952 3958 4023 412 4153 43 4360 4595 4684 48 4860 4907 4968 50 501 5091 51548 5226 5290 5291 5293 5294 5335 54658 54732 5538 5562 5563 5621 56848 5743 57704 5973 64116 6515 6517 7108 7351 7903 847 8526 8630 8877 8879 9200 929 9365	Homo sapiens (human)
DOID:0110545	autosomal dominant nonsyndromic deafness 13 Aliases: DFNA13 autosomal dominant deafness 13	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:0050645	arterial tortuosity syndrome	NT5E SLC2A10	4907 81031	Homo sapiens (human)
DOID:6886	ureter small cell carcinoma Aliases: ureteral small cell carcinoma	CHGA	1113	Homo sapiens (human)
DOID:6867	mediastinal gray zone lymphoma	FCER2	2208	Homo sapiens (human)
DOID:8353	epithelioid malignant peripheral nerve sheath tumor Aliases: epithelioid MPNST malignant epithelioid neoplasm of the peripheral nerve Sheath	CD38 CD44 CEACAM5 CHSY1 DCN G6PD HMMR IL1R1 LGALS1 NCAM1 PARP1 PARP2 PIK3CA PIK3CB PIK3CD PIK3CG PTEN RECK SMUG1 SOAT1	10038 1048 142 1634 22856 23583 2539 3161 3554 3956 4684 5290 5291 5293 5294 5728 6646 8434 952 960	Homo sapiens (human)
DOID:0070025	X-linked dyskeratosis congenita Aliases: DKCX Zinsser-Cole-Engman syndrome	GALNT3 GOLPH3	2591 64083	Homo sapiens (human)
DOID:0060407	chromosome 18q deletion syndrome Aliases: 18q- syndrome deletion 18q monosomy 18q	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:9335	scotoma Aliases: Blind spot area scotoma Enlarged angioscotoma Enlarged blind spot Enlarged paracaecal scotoma Generalized visual field contraction or constriction Scotoma of blind spot area Sector or arcuate visual field defects	ARSG	22901	Homo sapiens (human)
DOID:5823	childhood lymphoma Aliases: pediatric lymphoma	ABO ACE ACOX1 ACSF3 ALOX12 ALPI ALPP ANXA5 CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD55 CD74 CEL CHGA CLEC10A CNTN2 COMT CYP17A1 CYP1A1 ENO2 ENOSF1 EPM2A FCER2 FCGR3B FH FMOD G6PD GBA1 GLB1 GPI GPX1 HEXA HMMR HPGDS HYAL2 ICAM1 IDH1 IDH2 IL1R1 IL1RL1 INPP4B INPP5D ISYNA1 KLRC1 KLRD1 KLRK1 LGALS1 LGALS3 LY6K MCAT MLYCD MRC1 MTAP NCAM1 NDUFAB1 NT5E PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PNP PPP1R3A PTEN PTGDS PTGES PTGS2 RTN4R SLC27A5 SLC2A3 SLC35A2 SLC35B2 SMC3 SMUG1 SOAT1 SPHK2 STS SULT1E1 TIGAR TMTC3 TNFRSF10C VCAM1 VTCN1	10462 1056 10998 1113 1312 1543 1586 1604 160418 1636 197322 2026 2208 2215 2271 22914 2331 23417 23583 239 248 250 2539 2629 2720 27306 27349 28 2821 2876 3073 308 3161 3383 3417 3418 347734 3554 3635 3821 3824 3956 3958 412 4360 4507 4684 4706 4860 4907 51 51477 5290 5291 5293 5294 54742 5506 55556 56848 57103 5728 5730 5743 65078 6515 6646 6783 6900 7355 7412 7957 79679 83666 847 8692 8794 8821 912 9126 9173 929 933 945 952 9536 960 962 972	Homo sapiens (human)
DOID:0060844	Norrie disease Aliases: Episkopi blindness Norrie-Warburg disease atrophia bulborum hereditaria	CD38 CEACAM5 CEACAM7 CMAS	1048 1087 55907 952	Homo sapiens (human)
DOID:0060679	catecholaminergic polymorphic ventricular tachycardia 5 Aliases: CVPT5	ACADVL ACE CALR CHPT1 FKRP FUT1 GOLPH3 GYG1 PTGS2 SCD	1636 2523 2992 37 56994 5743 6319 64083 79147 811	Homo sapiens (human)
DOID:0060707	lymphoproliferative syndrome 1 Aliases: LPFS1	ACSBG1 ASAH2 CD14 CD22 CD38 CD44 CEL CNTN2 EBP FCER2 FCGR3B FH ICAM1 IL18R1 IL1R1 KLRB1 KLRD1 LGALS1 MLYCD MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC1 SLC27A5 SLC35B2 SMUG1 SOAT1	1056 10682 10998 2208 2215 2271 23205 23417 23583 3383 347734 3554 3820 3824 3956 4360 4684 5290 5291 5293 5294 5315 56624 6382 6646 6900 83666 8809 929 933 952 960	Homo sapiens (human)
DOID:9297	lip disease Aliases: disease of lips	CLEC7A OCRL	4952 64581	Homo sapiens (human)
DOID:0050589	inflammatory bowel disease	ABO ACACA ACAT1 ACAT2 ACE ACHE ACO2 ACSBG1 ACSL1 ACSS2 ADIPOQ AGA AKR1B10 ALDH5A1 ALDOB ALOX5 ALPI ALPP AMACR AMT AMY1A AMY1B AMY1C ARSA ARSF ASAH2 ATP6V0A2 B3GAT1 BCKDHA C1GALT1C1 CALR CAT CBR1 CD14 CD1D CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS1 CERS2 CHGA CHI3L1 CHPT1 CHST15 CHST2 CLEC10A CLEC12A CLEC16A CLEC7A CPT1A CTBS CYP19A1 CYP1A1 CYP21A2 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP3A4 CYP3A5 CYP4F2 CYP4F3 CYP7B1 DAG1 DHDDS DLD DPEP1 EFNA5 ELOVL7 ENO1 EPHX2 FADS1 FADS2 FASN FCER2 FCGR3B FCN2 FCN3 FH FUT2 FUT3 FUT4 G6PC3 GAL3ST1 GAL3ST2 GALC GALM GALNT2 GAPDH GGT1 GLB1 GP2 GPX1 GPX2 GUSB HADHA HMMR HPGDS HPRT1 HPSE HSD11B1 HSD11B2 HYAL2 ICAM1 ICAM2 IDH1 IDH2 IDUA IGF2 IL18R1 IL18RAP IL1R1 IL1RL1 IL1RL2 INPP5D IPMK ISYNA1 ITLN1 KLRK1 L1CAM LACC1 LCT LGALS1 LGALS2 LGALS3 LGALS4 LGALS9 LPIN2 LPL LTA4H LYZ MACROD2 MASP2 MBL2 MCAT ME1 MGAT1 MGAT3 MGAT5 MGLL MICA MPG MRC1 MTMR3 MUTYH NAAA NAMPT NCAM1 NEU1 NPL NT5E OGG1 PAFAH1B1 PARP1 PC PCYT1B PGAP3 PGD PGP PIGA PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG2 PNPLA3 PRKAA2 PRNP PSAP PSMD10 PTEN PTGDS PTGES PTGS1 PTGS2 REG1B RFT1 SDC1 SELE SELL SFTPA1 SFTPD SGPP1 SGPP2 SLC2A3 SLC2A5 SLC35A1 SLC39A8 SMPD1 SMUG1 SOAT1 SPHK1 ST6GALNAC1 STS SUCLA2 SULT1E1 TBXAS1 TIGAR TKT TNF TNFRSF10C TUSC3 UGT1A1 UGT1A7 ULBP1 UST VCAM1 VCAN VNN1 YDJC	100507436 10090 1012 10135 10462 1048 10559 10715 10747 10855 1087 1113 1116 11343 130367 130589 1374 140733 142 144811 1462 1486 150223 151056 1543 1555 1557 1559 1571 1573 1576 1577 1588 1589 1594 160364 1604 1605 1636 1738 175 1800 1946 2023 2053 2180 2194 2208 2215 2220 2271 229 22914 23205 23274 23545 23583 23600 23659 240 248 250 2524 2525 2526 253430 2581 2590 2597 2678 27087 27163 2720 27306 27349 275 276 277 278 28 2813 283871 2876 2877 29071 2990 29956 3030 30835 31 3161 3251 3290 3291 3383 3384 3417 3418 3425 3481 3554 3635 38 3897 39 3938 3956 3957 3958 3960 3965 3992 4023 4048 4051 4069 410 412 4153 416 4199 4245 4248 4249 43 4350 4360 4595 4680 4684 4758 4907 4968 50 5048 5091 51363 51477 5226 5277 5289 5290 5291 5293 5294 5315 5319 5320 5321 5336 54577 54658 55600 5563 55808 55902 5621 5660 56624 56994 57016 57103 5716 5728 5730 5742 5743 593 5968 6382 6401 6402 64090 64116 6441 64581 6515 6518 653509 6609 6646 6783 6916 7086 7124 7412 7915 7941 7991 79947 79993 80329 80339 80896 811 81537 8398 8399 847 8529 8547 8692 873 8794 8803 8807 8808 8809 8876 8877 8897 912 9173 91869 92579 929 93210 9370 9415 9420 9435 945 9468 9514 952 9536 960 9663 972	Homo sapiens (human)
DOID:0110165	Charcot-Marie-Tooth disease type 2E Aliases: CMT2E Charcot-Marie-Tooth neuropathy type 2E autosomal dominant Charcot-Marie-Tooth disease type 2E	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:1803	neuritis Aliases: peripheral neuritis	AMACR GLO1 PTEN SCP2 SMUG1	23583 23600 2739 5728 6342	Homo sapiens (human)
DOID:2640	struma ovarii	SMUG1	23583	Homo sapiens (human)
DOID:0060575	3MC syndrome 1	COLEC11 MASP1	5648 78989	Homo sapiens (human)

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