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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 **1026 - 1050** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	ALG1 ALG1L2	56052 644974	Homo sapiens (human)
DOID:2231	factor XII deficiency Aliases: Factor XII deficiency disease Hageman Factor deficiency deficiency, Hageman	MGAT2 PGAP1	4247 80055	Homo sapiens (human)
DOID:0110273	autosomal dominant limb-girdle muscular dystrophy	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:4202	brain stem glioma Aliases: Brainstem Neuroglial tumor	DHDDS IDH1 IDH2 PIK3CA	3417 3418 5290 79947	Homo sapiens (human)
DOID:0050158	desquamative interstitial pneumonia Aliases: RBILD familial desquamative interstitial pneumonitis respiratory bronchiolitis-associated interstitial lung disease	COMT SFTPC	1312 6440	Homo sapiens (human)
DOID:0060307	autosomal dominant intellectual developmental disorder Aliases: autosomal dominant mental retardation autosomal dominant non-syndromic mental retardation	LMAN2L ST3GAL4	6484 81562	Homo sapiens (human)
DOID:0110572	autosomal dominant nonsyndromic deafness 49 Aliases: DFNA49 autosomal dominant deafness 49	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:14753	isovaleric acidemia Aliases: Isovaleryl-CoA dehydrogenase deficiency isovaleric acid CoA dehydrogenase deficiency isovaleric aciduria	PIK3CA PLA2G1B PLB1 PTGES PTGS1 PTGS2	151056 5290 5319 5742 5743 9536	Homo sapiens (human)
DOID:3904	bronchus carcinoma Aliases: BC - Bronchogenic carcinoma	ABO ACACA ACAT1 ACE ACLY ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACYP2 ADH1B ADH1C ADH5 AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C3 ALDH1A3 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALG1 ALOX12B ALOX15 ALOX15B ALPI ALPP AMACR 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 CNTN1 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 FASN FBP1 FCN2 FDFT1 FOLR1 FOLR2 FUT10 FUT11 FUT1 FUT2 FUT3 FUT4 FUT5 FUT7 FUT8 FUT9 G6PD GAD1 GALC GALK2 GALNS 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 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 PAFAH1B1 PARG PARP1 PCK2 PCYT1A PFKFB3 PGD PGK1 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 SMC3 SMUG1 SOAT1 SPHK1 SPHK2 SQLE SRGN ST6GAL1 ST8SIA4 STS SULF1 SULF2 SULT1E1 SYNJ2 THEM4 TIGAR TM7SF2 TNKS2 TNKS TPI1 TPST1 TREH TUSC3 TYMP UGDH UGT1A1 UGT1A6 UGT1A7 UGT2B17 UGT8 ULBP1 UMPS UNG VCAM1 VCAN VTCN1 XXYLT1 YDJC	100507436 100861540 1012 10159 10232 10327 1048 10682 10690 10724 10855 1087 1103 1116 11181 1119 1120 11332 11343 117145 125 126 1272 128 130120 1312 131544 135228 140578 142 143903 1462 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 28 2821 284348 2876 2877 2878 2990 3030 3037 307 308 3098 3099 31 3251 3291 3292 3339 3383 3384 3417 3418 3482 353 3612 3635 3706 3707 38 3820 3897 3939 3945 3956 3958 3964 3965 4023 4051 410 412 4153 4199 427 4350 4360 4507 4594 4595 4680 4684 47 4758 4907 4913 4968 501 5048 5106 51196 5130 51477 51548 5167 5168 5209 5226 5230 5290 5291 5293 5294 5310 5315 5319 5320 5321 5329 5333 5335 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 6515 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 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 945 952 9536 960 972 98 9956	Homo sapiens (human)
DOID:552	pneumonia Aliases: acute pneumonia	ABO ACADVL ACE ACSS2 AKR1B1 ALDH7A1 ALOX12 ALOX5 ANXA5 APRT ARSA ASAH1 BAAT BST1 CALR CAT CD14 CD248 CD44 CD55 CD74 CEACAM5 CEL CEMIP CHI3L1 CHST7 CLEC1B CLEC6A CLEC7A CLEC9A COLEC11 CRPPA CTSA CYP1A1 CYP1A2 CYP2B6 CYP2E1 DEGS1 EPHX2 FCGR3B FCN2 FDPS FUT2 GLA GPX1 HACD1 HPGDS HSD11B1 ICAM1 IGF2R IL1R1 ISYNA1 ITLN1 KLRB1 LCLAT1 LCT LGALS3 LGALS9 MASP2 MBL2 MCEE MICA MPPE1 MRC1 NAAA NAMPT PARP1 PARP9 PIGW PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKD1 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G5 PLA2G6 PLD1 PLD2 PNP PTGDS PTGES PTGS1 PTGS2 REG3G RENBP SDC1 SDC2 SDC4 SELL SELP SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SGPL1 SIGLEC8 SLC17A5 SLC27A5 SLC2A10 SLC35A1 SLC5A1 SMC3 SMPD1 SMPD2 SMUG1 SPHK2 ST8SIA4 STS SULF1 TM7SF2 UGCG VCAM1 VCAN	100507436 10135 1048 10559 1056 10747 10998 1116 130120 142 1462 1543 1544 1555 1571 1604 1636 200576 2053 2215 2220 2224 231 23213 23583 23659 239 240 2524 253558 26503 27163 2717 27181 27306 28 283420 284098 2876 308 3290 3383 3482 353 3554 37 3820 3938 3958 3965 410 412 4153 427 4360 4860 501 51266 51477 5290 5291 5293 5294 5310 5319 5320 5321 5322 5337 5338 5476 55600 55902 56548 56848 570 57124 57214 5730 5742 5743 5973 6382 6383 6385 6402 6403 6440 6441 64581 6523 65258 653509 6609 6610 683 7108 729238 729920 7357 7412 78989 7903 81031 811 83666 8398 84693 847 8482 8560 8879 9126 9200 929 93978 9536 960 972	Homo sapiens (human)
DOID:13789	staphyloma posticum	HADHA	3030	Homo sapiens (human)
DOID:811	lipodystrophy	AGL AGPAT1 AGPAT2 APRT ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 353 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 952 9663	Homo sapiens (human)
DOID:0110778	hereditary spastic paraplegia 27 Aliases: SPG27 autosomal recessive spastic paraplegia 27 autosomal recessive spastic paraplegia type 27	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)
DOID:13868	hypoactive sexual desire disorder Aliases: Lack or loss of sexual desire	CYP17A1	1586	Homo sapiens (human)
DOID:3649	pyruvate decarboxylase deficiency Aliases: deficiency of pyruvic dehydrogenase pyruvate dehydrogenase complex deficiency disease pyruvate dehydrogenase deficiency	ACE CHPT1 DHDDS DLAT DLD ECHS1 OGDH PC PCK1 PCK2 PDHA1 PDHA2 PDHB PDHX	1636 1737 1738 1892 4967 5091 5105 5106 5160 5161 5162 56994 79947 8050	Homo sapiens (human)
DOID:0090116	spondylocarpotarsal synostosis syndrome Aliases: SCT congenital scoliosis with unilateral unsegmented bar congenital synspondylism spondylocarpotarsal syndrome spondylocarpotarsal synostosis vertebral fusion with carpal coalition	CAT CS G6PD ICAM1 VCAM1	1431 2539 3383 7412 847	Homo sapiens (human)
DOID:1793	pancreatic cancer Aliases: Ca body of pancreas Ca head of pancreas Ca tail of pancreas malignant neoplasm of body of pancreas malignant neoplasm of head of pancreas malignant neoplasm of tail of pancreas pancreas neoplasm pancreatic neoplasm pancreatic tumor	A4GNT ABO ACADS ACE ACO1 ACSS2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH6 AGPAT1 AKR1A1 AKR1B10 AKR1B1 AKT1 ALDH1A3 ALDH1B1 ALDH2 ALDOA ALOX12B ALOX15 ALOX5 ALPI ALPP AMACR ANXA5 APRT ART1 ASAH1 B3GALT5 B3GNT6 BAD BCKDHB BPHL BRAF C1GALT1C1 CALR CAT CBR1 CBR4 CD109 CD14 CD248 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CHGA CHI3L1 CHKA CHPT1 CHST15 CHSY3 CLEC14A CLEC7A COMT CS CSPG4 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 FUT2 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 HS3ST2 HS3ST3B1 HSPG2 HYAL1 ICAM1 ICAM2 IDH1 IGF2R IL18R1 INPP4A INPP4B INS KL KLRK1 L1CAM LDHA LDHB LFNG LGALS1 LGALS3 LGALS4 LGALS9 LTA4H LYPD5 LYPLA1 MACROD1 MAG MCAT MDH1 ME2 ME3 MGAT4A MICA MMUT MRC1 MSLN MTAP MUTYH NAMPT NCAM1 NEU2 NT5E OGDHL OGG1 OGT OLR1 PAFAH1B2 PARG PARP10 PARP14 PARP1 PARP4 PCYT1A PDHX PFKFB3 PFKFB4 PFKM PFKP PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2B PIP5K1A PIP5K1B PKD1 PKLR PKM PLA2G15 PLA2G4A PLAUR PNLIP PNP PNPLA2 PPARD PRKAA2 PRNP PSMD10 PTEN PTGES PTGS1 PTGS2 RECK 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 TP53 TUSC3 TYMP UGP2 UGT1A1 UGT1A3 UGT1A7 UGT8 ULBP2 UMPS VCAM1 VCAN VTCN1	10020 100507436 1012 10135 10232 10317 10327 10434 10457 1048 10554 1056 10855 1087 10873 1113 1116 1119 11227 11320 120227 124 125 126 127 128 130 130120 1312 135228 142 143 1431 1462 1464 1543 1544 1545 1555 1557 1576 1586 1591 1595 1605 1606 161198 1634 1635 1636 1718 1738 1800 1890 192134 1943 2023 2053 207 217 219 2194 220 2203 2215 2220 2224 226 2262 2271 22914 22933 231 23213 23409 2348 2350 23583 23600 23659 240 242 246 248 250 2524 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 3630 3631 3897 3939 3945 3955 3956 3958 3960 3965 3992 4048 4099 417 4190 4200 427 4360 4507 4594 4595 4680 4684 4759 48 4860 4907 4968 4973 5049 51146 5130 51363 51548 5167 5209 5210 5213 5214 5230 5290 5291 5293 5294 5310 5313 5315 5321 5329 5406 54577 54625 54658 54659 5467 54978 5563 55753 55902 55959 5621 56848 56994 57016 57104 57124 5716 572 57214 5728 5742 5743 594 6382 6401 6403 6441 64581 6480 6484 6523 6646 670 673 6996 7108 7157 7360 7368 7372 7412 79623 79679 7991 79947 80328 8050 811 8394 8395 8396 8434 847 8473 8482 84869 84875 8505 873 8794 8809 8821 8877 9104 9245 929 9365 9536 960 9672 972 9953 9956	Homo sapiens (human)
DOID:0110772	hereditary spastic paraplegia 19 Aliases: SPG19 autosomal dominant spastic paraplegia 19 autosomal dominant spastic paraplegia type 19	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)
DOID:3343	glycoproteinosis Aliases: Mucolipidosis type I sialidosis	APRT CALR CHIT1 CTSA CYP21A2 DHCR7 DPAGT1 FUCA2 GLB1 GNPTAB GNPTG GUSB HEXA HPRT1 IDS IDUA IGF2R NAGPA NEU1 OGA PLCD1 PLCG1	10724 1118 1589 1717 1798 2519 2720 2990 3073 3251 3423 3425 3482 353 4758 51172 5333 5335 5476 79158 811 84572	Homo sapiens (human)
DOID:0110134	Bardet-Biedl syndrome 12 Aliases: BBS12	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:10393	secondary hypertrophic osteoarthropathy Aliases: Bamberger-Marie disease HPOA - hypertrophic pulmonary osteoarthropathy Marie Bamberger disease hypertrophic pulmonary osteoarthropathy	CBR1 CD55 DPEP1 PTEN PTGS2 SFTPA1 SFTPA2 SFTPC	1604 1800 5728 5743 6440 653509 729238 873	Homo sapiens (human)
DOID:9588	encephalitis	ACE ADH5 AGA ALOX5 APRT ARSA ATP6V0A2 CAT CD1D CD38 CD44 CD48 CD74 CD93 CEMIP CERS2 CERS6 CH25H CHAT CHGA CHI3L1 CLEC12A COMT CPT1A CPT2 CYP17A1 CYP27B1 CYP46A1 DEGS1 DGAT1 ENO2 ENPP1 FASN FCER2 FOLR2 FUT7 FUT8 GAD1 GAD2 GANAB GAPDH GCK GLUL GPI HPGDS HPRT1 HPSE ICAM1 ICAM5 IL1R1 ISYNA1 KL KLRK1 L2HGDH LDHA LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LY75 MGLL MRC1 NCAM1 NDST1 NT5E OGA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PRNP PSMD10 PTEN PTGDS PTGES PTGS2 RGMA RTN4R SDC1 SELE SELP SEMA7A SIGLEC1 SIRT6 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 ST3GAL4 STS TMED5 TNF TPI1 VCAM1	10724 10855 10858 1103 1113 1116 11343 128 1312 1374 1376 142 151056 1586 1594 160364 1636 175 2026 2194 2208 22914 22918 23193 2350 23545 23583 240 2529 2530 253782 2571 2572 2597 2645 27306 2752 2821 29956 3251 3340 3383 353 3554 3939 3956 3958 3960 3964 3965 4065 410 412 4360 4684 4907 50999 51477 51548 5167 5290 5291 5293 5294 5315 5319 5320 5321 5621 56848 56963 5716 57214 5728 5730 5743 6382 6401 6403 6484 65078 6609 6614 6646 7087 7124 7167 7412 79944 8398 847 8482 8560 8694 8877 9023 912 9365 952 9536 960 962 972	Homo sapiens (human)
DOID:3302	chordoma Aliases: notochordoma	ACAN CBR1 CSPG4 FCGR3B IDH1 LGALS9 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SIGLEC7	142 1464 176 2215 27036 3417 3965 5290 5291 5293 5294 5728 873	Homo sapiens (human)
DOID:12385	shigellosis Aliases: Shigella boydii infectious disease Shigella flexneri infectious disease Shigella gastroenteritis Shigella sonnei infectious disease bacillary dysentery	ATP6AP2 BCKDHA CD248 CD48 CLEC7A CTSA GUSB HSD17B6 LYZ SFTPA1 ST8SIA2	10159 2990 4069 5476 57124 593 64581 653509 8128 8630 962	Homo sapiens (human)
DOID:3240	aspiration pneumonitis Aliases: Chemical pneumonitis Mendelson's Syndrome	ACE CAT CHAT PMM2	1103 1636 5373 847	Homo sapiens (human)

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