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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 **4226 - 4250** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:539	ophthalmoplegia Aliases: Total ophthalmoplegia extraocular muscle paralysis eye movement paralysis oculomotor paralysis	ACO2 ACOX1 ACSL4 ADPRS AGK AGRN ALDH5A1 ALDH7A1 ALG11 ALG3 ALG6 ATP6V0A2 ATP6V1A B3GALNT2 CA4 CACNA2D2 CACNA2D4 CHAT CHST14 COG5 COLEC11 COMT CYB5R3 CYP1B1 DDOST DHCR24 DHDDS ECHS1 ELOVL4 EOGT EXT2 FCSK FKRP FKTN GALC GAS1 GBA1 GFPT1 GK GMPPB GPC1 HACD1 HGSNAT HIBCH HSD17B4 IDH3A IDH3B INPP5E INPP5K L1CAM L2HGDH LARGE1 MDH2 MPDU1 MTM1 MTMR14 NAGA NGLY1 NSDHL NYX OCRL PDHA1 PIGL PIGP PIGQ PIGT PIGY PLA2G6 PMM2 PNPLA6 POMGNT1 POMK POMT1 POMT2 PTEN RFT1 SDHA SDHB SDHD SGPL1 SLC2A10 SLC35A2 SLC39A8 SMC3 SUCLA2 TYMP	10195 10466 10585 10908 1103 113189 1312 138050 148789 1545 1650 1718 1727 1890 1892 197258 2132 2182 2218 23545 2581 2619 26275 2629 2673 2710 2817 285203 29925 29929 29954 3295 3419 3420 375790 3897 4191 440138 4534 4668 4952 50 501 50814 51 51227 5160 51604 51763 523 5373 54936 55624 55750 55768 56623 5728 60506 6389 6390 6392 64116 64419 6785 7355 762 78989 79147 7915 79944 79947 81031 8398 84197 84992 8803 8879 9091 9126 91869 9200 9215 9254 93589 9487 9526	Homo sapiens (human)
DOID:0060774	congenital diarrhea	ACSL5	51703	Homo sapiens (human)
DOID:9498	pulmonary eosinophilia	ALPL CEL CHI3L1 IL1R1 IL1RL1 ISYNA1 PARP9 SIGLEC8 SIRT2 SLC27A5	1056 10998 1116 22933 249 27181 3554 51477 83666 9173	Homo sapiens (human)
DOID:0070115	Meckel syndrome 1 Aliases: MKS1 Meckel-Gruber syndrome, type 1	ALDH1A3 ALG8 ALG9 ARF4 INPP5E PKD1 PKD2 PTGDS UMOD	220 378 5310 5311 56623 5730 7369 79053 79796	Homo sapiens (human)
DOID:11843	coronary artery anomaly Aliases: Congenital anomaly of coronary artery Coronary artery abnormality Coronary artery anomaly, congenital	PCYT1A POFUT1	23509 5130	Homo sapiens (human)
DOID:0070120	Meckel syndrome 6 Aliases: MKS6 Meckel-Gruber syndrome, type 6	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:769	neuroblastoma	AACS ACADM ACAT1 ACHE ACO1 ADH1A AKR1B1 ALDH1A3 ALDOC ALOX12 ALOX5 ALPI ALPP AMACR ANXA5 APRT ARSA ARSF ARSH ASAH2 B3GAT1 B3GNT3 B4GALNT1 B4GALT3 CALR CAT CCDC115 CD14 CD177 CD1D CD248 CD38 CD44 CD55 CDH13 CEACAM5 CERK CERS1 CFC1 CHAT CHGA CHKA CHPT1 COMT CS CYP19A1 CYP3A4 CYP3A5 DCN DGCR2 DHCR24 DHDDS DLD EBP ENO1 ENO2 ENPP2 EXTL1 FCGR3B FCN2 FH FIG4 G6PC1 G6PD GAD1 GALNT14 GALNT9 GAPDH GAS1 GBA1 GCNT1 GDPD5 GFRA2 GLB1 GLDC GOLPH3 GPC2 GPC3 GPX1 GUSB HAS3 HK2 HPGDS HPRT1 HPSE HSD17B12 HSD17B6 ICAM1 ICAM2 IL18R1 ITLN1 KLRK1 L1CAM LDHA LDHB LDHC LGALS1 LGALS3 LGALS4 LMAN2 LYPD5 MAG MCAT MGAT2 MGAT5 MGAT5B MGLL MICA MMUT MRC1 MTAP NAGLU NAMPT NANS NCAM1 NCAN NEU4 NT5E OGDH PARP1 PARP2 PARP3 PDIA3 PFKFB3 PGK1 PGP PIK3C2B PIK3C2G PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PLCB1 PNP PNPLA6 POMGNT1 PPT1 PPT2 PRKAA2 PRNP PRPS1 PTEN PTGES PTGS2 QPRT RECK RENBP RTN4R SDC1 SDHA SDHB SDHC SDHD SELE SELP SHMT2 SIGLEC7 SIRT4 SIRT6 SLC2A3 SLC2A5 SLC39A8 SMUG1 SOAT1 SORD SPHK2 ST8SIA1 ST8SIA2 ST8SIA4 SUCLA2 SULF2 SYNJ1 TNFRSF10C TNKS TPI1 TYMP VCAM1 VCAN	10038 10039 100507436 1012 10135 10331 1048 10682 10715 10855 10908 10960 1103 1113 1119 11343 124 129807 1312 142 1431 1462 1463 146664 151056 1576 1577 1588 1604 1634 1718 1738 1890 2023 2026 2134 220 2215 221914 2220 2271 22914 230 231 23236 23409 23475 23583 23600 239 240 248 250 2538 2539 2571 2583 2597 2619 2629 2650 2675 27036 27087 2719 2720 27306 2731 27349 283871 284348 2876 2923 2990 3038 308 3099 3251 3383 3384 34 347527 353 38 3897 3939 3945 3948 3956 3958 3960 4099 410 416 4247 4249 43 4360 4507 4594 4669 4684 48 4860 4907 4967 50614 51144 51548 5168 5209 5230 5287 5288 5290 5291 5293 5294 5319 5320 5321 54187 5538 55600 55624 5563 55959 55997 5621 5631 56624 56848 56994 57124 57126 5728 5743 5973 6382 6389 6390 6391 6392 6401 6403 64083 64116 6472 64781 6489 65078 6515 6518 65985 6646 6652 7167 7412 7903 79623 79947 811 8128 81544 8398 84317 8434 847 8630 8658 8703 8794 8803 8809 8867 912 929 9374 952 9536 960 9896 9993	Homo sapiens (human)
DOID:0110477	autosomal recessive nonsyndromic deafness 2 Aliases: DFNB2 autosomal recessive deafness 2	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:4660	indolent systemic mastocytosis Aliases: ISM	CALR CD33 CD38 CEL ETNK1 FCER2 FH HS2ST1 ICAM1 IDH2 PLA2G2E SMPD1	1056 2208 2271 30814 3383 3418 55500 6609 811 945 952 9653	Homo sapiens (human)
DOID:0111368	cholesterol-ester transfer protein deficiency Aliases: CEPT deficiency familial hyperalphalipoproteinemia	GALNT2 LCAT LIPC LIPG LPL	2590 3931 3990 4023 9388	Homo sapiens (human)
DOID:0050644	arterial calcification of infancy Aliases: generalized arterial calcification of infancy idiopathic infantile arterial calcification infantile arteriosclerosis	ENPP1 NT5E	4907 5167	Homo sapiens (human)
DOID:3908	lung non-small cell carcinoma Aliases: NSCLC Non-small cell lung cancer non-small cell lung carcinoma	ACACA ACE ACHE ACLY ACOT8 ACSS1 ACSS2 ADH1A ADH1B ADH1C ADH7 AGL AKR1A1 AKR1B10 AKR1C1 AKR1C2 AKR1C3 AKT1 ALDH1A3 ALDH1B1 ALDH3A1 ALDH3A2 ALDH7A1 ALG13 ALG1 ALOX15B ALOX5 AMACR ANXA4 ANXA5 APRT ARSF ATRNL1 B3GALNT1 B3GAT1 B3GNT3 BAAT BAD CA4 CACNA2D2 CALR CAT CBR1 CD14 CD177 CD1D CD33 CD38 CD44 CD55 CD74 CD93 CDH13 CEACAM5 CEACAM7 CEMIP CERS6 CHGA CHI3L1 CHKA CHODL CHPT1 CNTN1 CNTN2 COMT CRLS1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2R1 CYP3A4 CYP3A5 CYP4F3 DCN DHCR24 DHDDS DHDH EFNA1 ENO1 ENO2 EXTL3 FASN FBP1 FBXO17 FCGR3B FH FOLR2 FUT4 FUT8 G6PD GALC GALNS GALNT14 GAPDH GCNT3 GFPT2 GLDC GLUL GML GOLPH3 GPC3 GPC5 GPX1 GPX3 HAGH HAS2 HAS3 HK1 HK2 HMMR HPGDS HPRT1 HPSE HS3ST2 HS3ST3B1 HSD11B2 HSD17B1 HSD17B6 HYAL1 ICAM1 IDH1 IDH2 IGF2R IL18R1 INPP4A INPP5D INPPL1 KAT2A KHK KL KLB KLRB1 KLRD1 KLRK1 L1CAM LDHA LDHB LDHC LEP LGALS1 LGALS3 LGALS9 LIPC LPCAT1 LPIN3 LPL LY6K LYPD3 LYPD5 LYPLA1 MBD4 MBL2 MCAT MDH1 MDH2 ME1 ME2 MICA MMUT MPG MRC1 MSLN MTAP MUTYH NAMPT NCAM1 NEIL1 NEU1 NEU3 NT5E NTHL1 OGG1 OPCML PAFAH1B1 PAPSS1 PARP1 PC PCK2 PDIA3 PFKFB3 PGAM1 PGK1 PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLAUR PLB1 PLCB3 PLCB4 PLCE1 PLCG1 PLCH1 POGLUT1 PPT1 PRG2 PRKAA1 PRKAA2 PRSS8 PSMD10 PTEN PTGES3 PTGES PTGIS PTGS1 PTGS2 PYGB RECK RGMB RGN RPN2 RTN4R SCD SDC4 SDHA SDHC SELE SFTPA1 SFTPA2 SFTPC SFTPD SGMS1 SHMT2 SIGLEC9 SIRT2 SIRT4 SIRT6 SLC17A5 SLC26A2 SLC2A3 SLC2A5 SLC3A2 SLC5A1 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST6GAL1 ST8SIA2 STS SULF2 TIGAR TM7SF2 TMTC3 TNF TNFRSF10C TNKS2 TNKS TP53 TREH TUSC3 TYMP UGCG UGP2 UGT1A1 UGT1A7 UGT1A9 ULBP1 UMPS UNG VCAM1 VTCN1 XXYLT1	10005 100507436 1012 10135 10232 10327 10331 10434 1048 10728 10825 10855 1087 1113 1116 11181 1119 115290 120227 124 125 126 1272 131 1312 140578 142 151056 152002 152831 1543 1544 1545 1555 1557 1558 1559 1571 1576 1577 1586 1588 1591 1593 1594 1604 160418 1634 1636 1645 1646 1718 178 1836 1890 1942 2023 2026 207 2137 218 219 2194 220 2203 2215 224 2262 2271 22914 22918 22933 23007 23409 2350 23583 23600 240 247 2526 2530 253782 2539 2581 2588 259230 2597 26033 2648 26503 27076 27087 27180 2719 27294 27306 2731 27349 2752 2765 284348 285704 2876 2878 2923 3029 3037 3038 307 308 3098 3099 31 3161 3251 3291 3292 3373 3383 3417 3418 3482 353 3631 3635 3636 3795 3820 3824 3897 3939 3945 3948 3952 3956 3958 3965 3990 4023 4051 412 4153 416 4190 4191 4199 4200 43 4350 4360 4507 4594 4595 4684 47 4758 4907 4913 4968 4978 501 5048 5091 5106 51196 51548 5209 5223 5230 5287 5289 5290 5291 5293 5294 5310 5315 5320 5321 5329 5331 5332 5335 54577 54600 54658 54675 54742 5538 5552 5553 5562 5563 55902 55959 56052 5652 56848 56983 56994 570 57016 57103 57126 5716 572 57214 5728 5740 5742 5743 5834 6185 6319 6385 6389 6391 6401 64083 6440 6441 6472 6480 64900 65078 6515 6518 6520 6523 653509 6609 6646 6900 7108 7124 7157 729238 7357 7360 7372 7374 7412 762 79623 79661 79679 79868 79888 7991 79947 80329 80351 811 8128 8398 8399 8434 84532 847 8630 8644 8658 8706 873 8794 8809 8877 8930 9061 9104 912 9245 9254 929 9365 945 952 9536 960 972 9945 9953 9956	Homo sapiens (human)
DOID:0110055	amelogenesis imperfecta type 3A Aliases: ADHCAI amelogenesis imperfecta hypomineralization type amelogenesis imperfecta type III autosomal dominant amelogenesis imperfecta hypocalcification type	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	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:0110528	autosomal recessive nonsyndromic deafness 83 Aliases: DFNB83 autosomal recessive deafness 83	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:9268	glycine encephalopathy Aliases: Non-ketotic hyperglycinemia nonketotic hyperglycinemia	AMT B3GAT1 GCSH GLDC GLYCTK MGAT1 UGCG	132158 2653 27087 2731 275 4245 7357	Homo sapiens (human)
DOID:8946	severe nonproliferative diabetic retinopathy Aliases: High risk non proliferative diabetic retinopathy Severe NPDR	DPEP1	1800	Homo sapiens (human)
DOID:4500	hypokalemia Aliases: hypopotassemia potassium deficiency disorder	AKR1B1 CTNS CYP11B1 CYP11B2 CYP17A1 HSD11B2 OCRL SLC2A2	1497 1584 1585 1586 231 3291 4952 6514	Homo sapiens (human)
DOID:0110138	Bardet-Biedl syndrome 16 Aliases: BBS16	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:11766	blind hypotensive eye	SMC3	9126	Homo sapiens (human)
DOID:657	adenoma Aliases: acinar cell adenoma acinic cell adenoma adenomas	A4GALT A4GNT ABO ACACA ACAT1 ACE ACOT7 ACSL4 ACSL5 ADH1C ADH4 ADH7 AKR1A1 AKR1B10 AKR1B1 AKR1C2 AKR1C3 ALDH1A3 ALDH1B1 ALDH2 ALOX12 ALOX12B ALOX15B ALOX5 AMACR AMY1A AMY1B AMY1C ANXA5 ANXA7 APRT ARSA ATP6AP2 B3GALT1 B3GALT5 BAAT C1GALT1 CALR CAT CBR1 CD109 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CHGA CHI3L1 CHPT1 CHST3 CHST5 CNTN1 COMT CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27B1 CYP2C9 CYP2E1 CYP2R1 CYP3A5 CYP7B1 DAG1 DGKZ DHCR24 DHDDS DLD DPEP1 EFNA1 ENO1 ENO2 ENPP7 EPHX2 EXT1 FASN FCGR3B FDFT1 FOLR2 FUT4 FUT8 G6PC1 G6PD GAL3ST1 GALNS GALNT12 GALNT3 GALNT6 GCNT1 GFRA2 GGT1 GLUL GPC1 GPC3 GPNMB GPX1 GPX2 GPX3 GUSB HAS1 HAS2 HAS3 HPGDS HPSE2 HPSE HSD11B1 HSD11B2 HSD17B1 HSD17B7 HSD3B1 HSPG2 HYAL2 ICAM1 IDH1 IDH2 IGF2R INPP4B ISYNA1 ITLN1 KL KLRK1 LDHA LDHB LGALS1 LGALS3 LGALS4 LMAN1 LPL LTA4H LYPD5 LYZ MBD4 MCAT ME1 MGAM MGAT5 MGLL MICA MMP17 MPG MRC1 MSLN MTAP MUTYH NAGLU NAMPT NCAM1 NEU1 NT5E NTHL1 OGG1 OLR1 OPCML PARP1 PCCA PCCB PDHX PDIA3 PFKFB3 PFKM PFKP PGAM1 PGD PGP PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLAUR PLCB1 PLCB2 PLCB3 PLCB4 PLCE1 PLCG1 PNPLA2 PRKAA2 PRNP PSMD10 PTEN PTGES2 PTGES3 PTGES PTGIS PTGS1 PTGS2 QPRT RECK RGN SCD SDC1 SDC2 SDHB SDHC SELL SFTPA1 SFTPA2 SFTPC SFTPD SHMT1 SI SIRT2 SIRT4 SLC26A2 SLC2A10 SLC2A3 SLC2A4 SLC33A1 SLC5A1 SMC3 SMUG1 SOAT1 SORD SPHK1 ST6GAL1 ST8SIA2 STS SULF2 TEX101 TKT TKTL1 TNFRSF10C TNKS2 TNKS TPI1 TYMP UGT1A1 UGT1A6 UGT2B17 UGT8 VCAM1 VCAN VTCN1	100507436 1012 10135 10159 10232 10317 10327 10457 1048 1056 10728 10855 1087 1113 1116 11226 11332 11343 120227 126 127 1272 131 1312 135228 142 1462 1543 1544 1545 1559 1571 1577 1583 1584 1585 1586 1588 1589 1591 1594 1604 1605 1636 1646 1718 1738 1800 1836 1890 1942 2023 2026 2053 2131 217 2182 219 2194 220 2215 2222 22914 22933 231 23236 23409 23475 2350 23563 23583 23600 239 240 242 247 2526 2530 2538 2539 2588 2591 2650 2675 2678 2719 27306 27349 2752 276 277 278 28 2817 283871 284348 2876 2877 2878 2923 2990 3036 3037 3038 308 31 310 3283 3290 3291 3292 3339 3383 339221 3417 3418 3482 353 38 3939 3945 3956 3958 3960 3998 4023 4048 4069 410 412 4199 4249 4326 4350 4360 4507 4595 4669 4680 4684 4758 4907 4913 4968 4973 4978 5095 5096 51146 51196 51477 51478 51703 5209 5213 5214 5223 5226 5290 5291 5293 5294 5315 5320 5321 5329 5330 5331 5332 5335 53947 54578 54658 55600 5563 55959 5621 56913 56994 570 57016 57104 5716 57214 5728 5740 5742 5743 60495 6319 6382 6383 6390 6391 6402 6440 6441 6470 6476 6480 6515 6517 6523 653509 6646 6652 7086 7167 729238 7367 7368 7412 79679 79695 79947 80142 80351 8050 81031 811 8128 8277 83639 8398 8399 8434 847 8525 8644 8658 8692 8708 873 8794 8821 8877 8930 8972 9104 9126 9197 9365 9420 9469 9514 9536 960 972	Homo sapiens (human)
DOID:1934	dysostosis	GLB1 LFNG	2720 3955	Homo sapiens (human)
DOID:4972	myelodysplastic/myeloproliferative neoplasm Aliases: Myeloproliferative/Myelodysplastic syndromes myelodysplastic myeloproliferative cancer	NCAM1 PAFAH1B1	4684 5048	Homo sapiens (human)
DOID:2228	thrombocytosis Aliases: Thrombocythaemia	ACAT1 CALR CD177 HMGCL NAAA PMM2	27163 3155 38 5373 57126 811	Homo sapiens (human)
DOID:0060466	gingival fibromatosis Aliases: hereditary gingival fibromatosis hereditary gingival hyperplasia	HAS3 HPSE ICAM1 PIK3CA PIK3CB PIK3CD PIK3CG SLC2A4	10855 3038 3383 5290 5291 5293 5294 6517	Homo sapiens (human)

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