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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 **3651 - 3675** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110786	hereditary spastic paraplegia 35 Aliases: FAHN SPG35 autosomal recessive spastic paraplegia 35 autosomal recessive spastic paraplegia type 35 fatty acid hydroxylase-associated neurodegeneration leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PLB1 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 151056 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)	DisGeNET DisGeNET
DOID:11502	mitral valve insufficiency Aliases: Congenital insufficiency of mitral valve Mitral valve incompetence congenital mitral insufficiency congenital mitral regurgitation mitral regurgitation	ABO ACE AGA B3GALT6 B3GAT3 CHST3 DSE ENPP1 G6PC3 GLA HADHA HADHB IDUA PLD1 PRKAA2 SCD XYLT1 XYLT2	126792 1636 175 26229 2717 28 29940 3030 3032 3425 5167 5337 5563 6319 64131 64132 92579 9469	Homo sapiens (human)	DisGeNET DisGeNET
DOID:916	liver benign neoplasm Aliases: epithelial hepatic and intrahepatic bile duct neoplasm	ALDOB	229	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110115	autoimmune lymphoproliferative syndrome type 2A Aliases: ALPS2A autoimmune lymphoproliferative syndrome type IIA	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)	DisGeNET
DOID:0111071	congenital bile acid synthesis defect 1 Aliases: CBAS1	HSD3B7	80270	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110540	autosomal recessive nonsyndromic deafness 98 Aliases: DFNB98 autosomal recessive deafness 98	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)	DisGeNET
DOID:3713	ovary adenocarcinoma Aliases: Ovarian adenocarcinoma ovarian adenoacanthoma	CYP24A1 NEU1 NEU3 PTGS2 SMUG1	10825 1591 23583 4758 5743	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080557	congenital disorder of glycosylation Ie Aliases: congenital disorder of glycosylation 1e	ALG12 DPM1 PMM2	5373 79087 8813	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:3905	lung carcinoma Aliases: cancer of lung	ABO ACACA ACAT1 ACE ACLY ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSM1 ACYP2 ADH1B ADH1C ADH5 AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C3 ALDH1A3 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALG1 ALOX12B ALOX15 ALOX15B ALPI ALPP AMACR AMY1A AMY1B AMY1C AMY2A AMY2B ANXA4 ANXA5 APRT ARSA ASAH1 ATP6AP2 ATRNL1 B3GAT1 B3GNTL1 B4GALT1 BPHL BST1 CACNA2D2 CALR CANX CAT CBR1 CD109 CD14 CD1D CD22 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS6 CHAT CHI3L1 CHKA CHKB CHODL CHPT1 CHST7 CLEC10A CNTN1 COG8 COMT CRLS1 CRYBG3 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP3A5 CYP3A7-CYP3A51P CYP3A7 CYP4F3 DCN DDOST DGKH DHCR24 DHDDS DHDH DLD EBP EFNA1 ELOVL6 ENO1 ENO2 ENO3 ENPP1 ENPP2 EPHX2 ERLEC1 EXTL3 FADS1 FADS2 FASN FBP1 FCN2 FDFT1 FOLR1 FOLR2 FUT10 FUT11 FUT1 FUT2 FUT3 FUT4 FUT5 FUT7 FUT8 FUT9 G6PD GAD1 GALC GALK2 GALNS GALNT13 GALNT3 GAPDH GBE1 GCK GCNT1 GGT1 GLB1 GLCE GLDC GOLPH3 GPC3 GPC5 GPI GPX1 GPX2 GPX3 GUSB HADHA HAS2 HK1 HK2 HKDC1 HPGDS HPRT1 HPSE HS3ST2 HSD11B2 HSD17B1 HSD17B6 HSPG2 HYAL2 ICAM1 ICAM2 IDH1 IDH2 IDS IDUA IGF2R IL18R1 IL1RL1 IMPA1 INPP4B INPP5D ISYNA1 ITPKA ITPKB KL KLRB1 KLRK1 L1CAM LAYN LDHA LDHB LGALS1 LGALS3 LGALS8 LGALS9 LPCAT1 LPIN1 LPL LY6K LYNX1 LYPD5 MBD4 MBL2 MCAT ME1 MGLL MICA MMUT MOGS MPG MRC1 MSLN MTAP MTMR3 MUTYH NCAM1 NEIL2 NEU1 NT5E NTHL1 OGA OGG1 OPCML PAFAH1B1 PARG PARP1 PC PCK2 PCYT1A PFKFB3 PFKFB4 PGAM1 PGD PGK1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLB1 PLCD1 PLCE1 PLCG1 PLCH1 PLOD3 PLPP4 PLPP5 PNPLA2 POFUT1 PRG2 PRKAA2 PRNP PTEN PTGES PTGIS PTGS1 PTGS2 QTRT1 RECK REG1B REG3G RENBP RGN RPN2 SCD SDC1 SDC2 SDHC SELE SELP SFTPA1 SFTPA2 SFTPC SFTPD SGMS1 SHMT1 SHMT2 SIRT2 SIRT4 SIRT6 SLC2A10 SLC2A3 SLC33A1 SLC5A1 SMC3 SMUG1 SOAT1 SPHK1 SPHK2 SQLE SRGN ST6GAL1 ST8SIA1 ST8SIA4 STS SULF1 SULF2 SULT1E1 SYNJ2 THEM4 TIGAR TM7SF2 TMED6 TNKS2 TNKS TPI1 TPST1 TREH TUSC3 TYMP UGDH UGT1A10 UGT1A1 UGT1A6 UGT1A7 UGT2B17 UGT8 ULBP1 UMPS UNG VCAM1 VCAN VTCN1 XXYLT1 YDJC	100507436 100861540 1012 10159 10232 10327 10462 1048 10682 10690 10724 10855 1087 1103 1116 11181 1119 1120 11332 11343 114805 116285 117145 125 126 1272 128 130120 1312 131544 135228 140578 142 143903 1462 146456 146712 150223 151056 152002 1543 1544 1545 1551 1555 1557 1559 1571 1576 1577 1586 1588 1589 1591 1593 1594 1604 160851 1634 1636 1645 1650 170384 1718 1738 1890 1942 196051 2023 2026 2027 2053 2137 217 218 2180 2181 2182 2194 220 2203 2220 2222 226 2262 22914 22933 23007 231 23175 23205 23213 23409 2348 2350 23509 23583 23600 242 246 247 248 250 2523 2524 2525 2526 2527 2529 252969 2530 253782 2539 2571 2581 2585 2588 2591 259230 2597 26033 26035 2632 2645 2650 2678 2683 27087 2719 2720 27248 27294 27306 2731 27349 276 277 278 279 28 280 2821 283871 284348 2876 2877 2878 2990 3030 3037 307 308 3098 3099 31 3251 3291 3292 3339 3383 3384 3417 3418 3423 3425 3482 353 3612 3635 3706 3707 38 3820 3897 3939 3945 3956 3958 3964 3965 3992 4023 4051 410 412 4153 4199 427 4350 4360 4507 4594 4595 4680 4684 47 4758 4907 4913 4968 4978 501 5048 5091 5106 51196 5130 51477 51548 5167 5168 51703 5209 5210 5223 5226 5230 5290 5291 5293 5294 5310 5315 5319 5320 5321 5329 5333 5335 54575 54577 54578 54658 54675 54742 5552 5553 5563 55959 56052 5621 56548 56848 56994 57016 57103 57104 5728 5740 5742 5743 5968 5973 6185 6319 6382 6383 6391 6401 6403 64083 6440 6441 6470 6472 6480 6489 6515 6523 653509 66004 6646 670 6713 6783 683 7108 7167 729238 7358 7367 7368 7372 7374 7412 7841 7903 79071 79679 79888 7991 79947 80201 80329 80351 81031 811 81890 821 8398 8399 8434 84342 84513 8460 847 84750 8505 8630 8644 8658 8692 873 8809 8821 8871 8877 8897 8930 8985 9104 912 9126 9173 9197 9254 929 933 9365 9415 945 952 9536 960 972 98 9956	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:7148	rheumatoid arthritis Aliases: Arthritis or polyarthritis, rheumatic atrophic Arthritis	ABO ACACA ACAN ACE ACOT7 ACSBG1 ADIPOQ ADRB3 AGPAT1 AKR1D1 ALDH1A3 ALOX12 ALOX5 ALPP AMACR ANXA4 ANXA5 APRT ASAH1 ATRNL1 B3GAT1 B3GNT9 B4GALT1 B4GALT7 CALR CAT CD109 CD14 CD1D CD209 CD22 CD248 CD38 CD44 CD48 CD55 CD74 CEMIP CHAT CHI3L1 CHID1 CHST3 CLEC10A CLEC12A CLEC16A CLEC1B CLEC4E CLEC6A CLEC7A CNTFR CNTN2 COG2 COG6 COL9A2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP21A2 CYP2B6 CYP2C19 CYP2E1 CYP2R1 CYP3A4 CYP3A5 CYP7B1 DGKQ DHCR7 DPEP1 EBP ENGASE ENO1 ENPP1 ENPP2 EXT1 FADS1 FADS2 FBXO2 FCER2 FCGR3B FCN1 FCN2 FOLR2 FUT4 GALNT18 GCK GDPD5 GFRA1 GLB1 GNS GPC1 GPC5 GPI GPLD1 GPX1 GUSB GYS1 HAGH HAS1 HAS3 HEXA HEXB HK1 HK2 HMMR HPGDS HPRT1 HPSE HSD11B1 HSD11B2 HSD17B6 HSD17B8 HTD2 HYAL2 ICAM1 IGF2 IL18R1 IL18RAP IL1R1 IL1RAP IL1RAPL1 IL6ST INPP5D ISYNA1 KAT2B KL KLRB1 KLRC1 KLRD1 KLRK1 LCAT LGALS1 LGALS2 LGALS3 LGALS8 LGALS9 LPIN2 LY6G6D LYZ MASP1 MASP2 MBD4 MBL2 MDGA2 MGAT5 MICA MMP17 MMP25 MPG MRC1 MTMR3 MUTYH NAMPT NCAM1 NDST1 NEU1 NT5E OGG1 OLR1 OS9 PARP1 PARP2 PARP9 PCYT1A PDIA3 PFKFB3 PGK1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G7 PLAUR PLB1 PLCG2 PLD1 PLD3 PLD4 PNPLA2 PTEN PTGES PTGS1 PTGS2 RECK RGMB SACM1L SCD5 SCD SDC1 SDC2 SDC3 SDC4 SELE SELL SELP SEMA7A SFTPA2 SFTPD SIGLEC1 SIGLEC7 SIGLEC9 SIRT6 SLC17A5 SLC2A3 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 ST6GAL1 ST6GALNAC5 STS TM7SF2 TNF TPI1 TREH TYMP UGCG UGT1A10 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UNG VCAM1 VTCN1	10038 100507436 10135 10462 10554 10682 10747 10855 10956 109703458 1103 11141 1116 11181 11285 11332 120227 122618 1271 1298 135228 142 151056 1543 1544 155 1555 1557 1571 1576 1577 1586 1588 1589 160364 1604 1609 161357 1636 1717 176 1800 1890 2023 2131 220 2208 2215 2219 2220 2262 22796 22908 22914 23205 23274 2350 23583 23600 23646 239 240 250 2526 26033 26232 26253 2645 26503 2674 2683 27036 27087 27180 2720 27306 2799 28 2817 2821 2822 285704 2876 2923 2990 2997 3029 3036 3038 307 3073 3074 308 30835 3098 3099 31 3161 3251 3290 3291 3340 3383 3481 353 3554 3556 3572 3635 374378 3820 3821 3824 3931 3956 3957 3958 3964 3965 3992 4069 412 4153 4249 427 4326 4350 4360 4595 4684 4758 4907 4968 4973 51266 5130 51477 51548 5167 5168 5209 5230 5236 5290 5291 5293 5294 5310 5319 5320 5321 5329 5336 5337 54575 54576 54577 54578 54657 5648 56848 57104 57124 57214 5728 5742 5743 57511 58530 6319 6382 6383 6385 6401 6402 6403 64386 6441 64581 64772 6480 6515 66005 6609 6614 6646 6718 6900 7108 7124 7167 729238 7357 7374 7412 7923 7941 79679 79966 811 81544 81849 83666 8399 8434 847 84752 8482 8630 8692 8807 8809 8850 8877 8897 8930 912 929 933 9365 9370 93978 9415 9420 9469 952 9536 960 962 9663 9672 972	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:10480	diaphragmatic eventration	MTM1 PIK3CA PLOD3	4534 5290 8985	Homo sapiens (human)	DisGeNET
DOID:1192	peripheral nervous system neoplasm Aliases: neoplasm of peripheral nerve nerve sheath neoplasm tumor of PNS	ACHE CD38 CD44 CNTN2 PTEN SDHB SDHC SMUG1 SOAT1	23583 43 5728 6390 6391 6646 6900 952 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:12156	arachnoiditis	APRT CAT CD248 CDS1 CHI3L1 ENOSF1 GALNS ICAM1 LYZ MBL2 NEU1 OGG1 PARP1 PRNP	1040 1116 142 2588 3383 353 4069 4153 4758 4968 55556 5621 57124 847	Homo sapiens (human)	DisGeNET
DOID:3319	lymphangioleiomyomatosis Aliases: lung lymphangioleiomyomatosis lymphangiomyomatosis pulmonary lymphangioleiomyomatosis	ACE ACSS2 CD44 CPT1A CYP19A1 GAPDH GPNMB LGALS3 PARP1 PLA2G1B PLAAT3 PLB1 PTGS2 SELL SFTPA1 SFTPA2 SFTPD	10457 11145 1374 142 151056 1588 1636 2597 3958 5319 55902 5743 6402 6441 653509 729238 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110494	autosomal recessive nonsyndromic deafness 36 Aliases: DFNB36 autosomal recessive deafness 36	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)	DisGeNET
DOID:525	central nervous system vasculitis	PNP	4860	Homo sapiens (human)	DisGeNET
DOID:0110787	hereditary spastic paraplegia 36 Aliases: SPG36 autosomal dominant spastic paraplegia 36 autosomal dominant spastic paraplegia type 36	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)	DisGeNET
DOID:934	viral infectious disease Aliases: Viral Infection Viral disease virus infection	ABO ACACA ACACB ACE ACHE ACOD1 ACOT7 ACSBG1 AGPAT1 AKR1A1 AKR1C4 ALDH2 ALOX5 AMACR ANXA5 APRT ASAH1 ATP6AP2 B3GAT1 BST2 CALR CAT CD14 CD1D CD209 CD33 CD38 CD44 CD48 CD74 CEACAM5 CERS1 CHST10 CLEC10A CLEC1B CLEC5A CLEC9A COLEC11 CPT2 CSPG5 CYP2B6 CYP4F3 DDOST DLD ENPP1 FASN FBP1 FCGR3B FCN2 FUT2 G6PD GALNT3 GAPDH GGT1 GLB1 GLDC GOLPH3 GPC3 GPI HACD1 HK2 HPSE2 HPSE HSD17B6 ICAM1 IGF2R IL1RL1 INPP5D INPP5E ISYNA1 KLRB1 KLRC1 KLRK1 LDHA LGALS1 LGALS3 LGALS8 LGALS9 LY75 MASP2 MBL2 MGAM MICA MOGS MRC1 NAAA NAGLU NCAM1 OGDH PARP11 PARP12 PARP1 PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G6 PLAUR PLCB2 PLCE1 PNPLA3 PNPLA6 PRKAA2 PRNP PSMD10 PTEN PTGS1 PTGS2 RECK SCD SELE SFTPA1 SFTPD SI SIGLEC1 SIRT6 SLC17A5 SLC2A2 SLC35A1 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 STT3B TALDO1 TM7SF2 TPI1 VCAM1 XYLT2	100507436 10159 10327 10462 1048 10554 10559 10675 10715 10747 10855 10908 1109 11332 1376 142 1555 1636 1650 1738 201595 217 2194 2203 2215 2220 22914 23205 23583 23600 23601 240 2524 2539 2591 2597 26503 2678 27087 27163 2719 2720 2731 28 2821 283420 308 30835 3099 31 32 3383 3482 353 3635 3820 3821 3939 3956 3958 3964 3965 4051 4065 4153 427 43 4360 4669 4684 4967 5106 51196 51266 51477 51548 5167 5290 5291 5293 5294 5315 5329 5330 5563 5621 56623 56848 57097 5716 5728 5742 5743 60495 6319 6401 64083 64132 6441 6476 64761 6514 653509 6609 6614 6646 684 6888 7108 7167 730249 7412 7841 78989 80339 811 8398 8434 847 8630 8877 8972 912 9173 9200 929 945 9486 952 960 962 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060389	chromosome 10q23 deletion syndrome	MBL2 MUTYH PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SMUG1	23583 4153 4595 5290 5291 5293 5294 5728 5743	Homo sapiens (human)	DisGeNET
DOID:0050630	Aland Island eye disease Aliases: FORSIUS-ERIKSSON TYPE OCULAR ALBINISM Forsius-Eriksson syndrome	GK	2710	Homo sapiens (human)	DisGeNET
DOID:0070238	primary coenzyme Q10 deficiency 1 Aliases: COQ10D1 CoQ deficiency 1 CoQ10 deficiency, primary, 1 coenzyme Q deficiency 1 ubiquinone deficiency 1	COQ2	27235	Homo sapiens (human)	Alliance of Genome Resources
DOID:1858	McCune Albright syndrome Aliases: fibrous dysplasia of bone osteitis fibrosa disseminata polyostotic fibrous dysplasia	ACSS2 AMY1A AMY1B AMY1C APRT ENPP1 PLA2G15 SUCLG1	23659 276 277 278 353 5167 55902 8802	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0090071	hypogonadotropic hypogonadism 11 with or without anosmia	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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0111344	myeloproliferative disorder with eosinophilia Aliases: chronic myeloproliferative disorder with eosinophilia	ALPP ANXA5 ATRNL1 B3GAT1 CEACAM5 CEACAM7 COMT DCN ENO2 FCGR3B ICAM1 LTA4H NCAM1 PKM SCD SMUG1 TKT VTCN1	1048 1087 1312 1634 2026 2215 23583 250 26033 27087 308 3383 4048 4684 5315 6319 7086 79679	Homo sapiens (human)	DisGeNET
DOID:5139	cellular leiomyoma	LDHA	3939	Homo sapiens (human)	DisGeNET

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