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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 **6051 - 6075** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:10273	heart conduction disease Aliases: heart rhythm disease	CACNA2D3 ETNK1 ETNK2	55224 55500 55799	Homo sapiens (human)
DOID:3907	lung squamous cell carcinoma Aliases: Epidermoid cell carcinoma of the lung	AKR1C2 CACNA2D3 CBR1 CD109 CD44 CEACAM5 CEACAM7 CYP1A1 CYP1A2 CYP1B1 CYP2E1 ENO1 FUT1 GPC3 GPX1 GPX2 GPX6 HJV HK2 HPGDS HYAL3 IDH1 IDH2 IGF2R INPP4B KL LDHA LGALS1 LGALS8 LIPA MASP1 ME1 NCAM1 OGG1 PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PLPP4 PTEN PTGS2 SLC2A2 SQLE	1048 1087 135228 142 148738 1543 1544 1545 1571 1646 196051 2023 2523 257202 2719 27306 2876 2877 3099 3417 3418 3482 3939 3956 3964 3988 4199 4684 4968 5091 5290 5291 5293 5294 55799 5648 5728 5743 6514 6713 8372 873 8821 9365 960	Homo sapiens (human)
DOID:0060674	catecholaminergic polymorphic ventricular tachycardia	ACADVL ACE CALR CHPT1 CNTN3 FKRP FUT1 GOLPH3 GYG1 PTGS2 SCD THEM5	1636 2523 284486 2992 37 5067 56994 5743 6319 64083 79147 811	Homo sapiens (human)
DOID:3016	breast malignant phyllodes tumor Aliases: Phyllodes breast neoplasm Phyllodes tumor, malignant breast malignant phyllodes tumour malignant Mammary Phyllodes tumor malignant Mammary Phyllodes tumour malignant Phyllodes neoplasm malignant cystosarcoma phyllodes malignant phyllodes tumor malignant phyllodes tumor of breast malignant phyllodes tumour malignant phyllodes tumour of breast phyllodes breast tumor phyllodes breast tumour	DCN FASN INPP4B PIK3CA PIK3CB PIK3CD PIK3CG SDHA SDHB VTCN1	1634 2194 5290 5291 5293 5294 6389 6390 79679 8821	Homo sapiens (human)
DOID:0060180	colitis	ACAT1 ACE ACSBG1 ADIPOQ ADRB3 ALOX12 ALOX15 ALOX5 ALPL ANXA5 ARSA ASAH1 B4GALT7 CALR CAT CD14 CD177 CD1D CD44 CD55 CEACAM5 CEACAM6 CERK CERS2 CERS6 CH25H CHGA CHI3L1 CHST15 CHST4 CLEC7A CNTN3 CPT1B CRLS1 CSPG4 CTSA CYP27B1 CYP7B1 EFNA5 ENPP2 FDPS FUT2 FUT3 G6PC3 GALM GPIHBP1 GPX1 GPX2 GUSB HACD1 HPGDS HPRT1 HYAL2 ICAM1 IDH2 IL18R1 IL1R1 IL1RAP IL1RL2 INPP5D ISYNA1 KL LAYN LCT LGALS1 LGALS2 LGALS3 LPIN1 LYZ MBL2 MRC1 NAMPT NT5E OGA PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PLCG1 PLD1 PLD2 PPARGC1A PRKAA2 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES PTGS1 PTGS2 REG3G RGN SDC1 SDC2 SDC4 SELL SELP SFTPD SGMS2 SGPL1 SGPP1 SGPP2 SI SIGLEC1 SIGLEC8 SIRT6 SLC33A1 SMPD1 SMUG1 SPHK1 ST8SIA2 STS TFF1 TLR4 TM7SF2 VCAM1 VNN1 VTCN1	10135 10164 1048 10724 10891 1113 1116 11285 130120 130367 130589 1375 142 143903 1464 151056 155 1594 1604 1636 166929 1946 2224 23175 23205 23583 239 240 246 249 2524 2525 253782 27181 27306 2876 2877 2990 29956 308 3251 3383 338328 3418 3554 3556 3635 38 3938 3956 3957 3958 4069 410 412 4153 427 4360 4680 4907 5067 5091 51363 51477 51548 5168 5290 5291 5293 5294 5315 5319 5320 5321 5335 5337 5338 54675 5476 5563 5652 5660 57126 5716 5728 5730 5742 5743 6382 6383 6385 6402 6403 6441 64581 6476 64781 6609 6614 7031 7099 7108 7412 79679 811 8128 81537 8398 8399 847 8692 8808 8809 8876 8877 8879 9023 9104 912 9197 9200 92579 929 9365 9370 9420 9536 960	Homo sapiens (human)
DOID:4554	type C thymoma Aliases: Thymoma, type C	CD74 HACD1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGES2 PTGES PTGS2 SMUG1	23583 5290 5291 5293 5294 5728 5743 80142 9200 9536 972	Homo sapiens (human)
DOID:0050730	coenzyme Q10 deficiency disease Aliases: COENZYME Q10 DEFICIENCY, PRIMARY	COQ2	27235	Homo sapiens (human)
DOID:1393	visual pathway disease	ACO2 AGXT CYP1B1 INPP5E PMM2 PRPS1 PTEN	1545 189 50 5373 5631 56623 5728	Homo sapiens (human)
DOID:14283	primary hypertrophic osteoarthropathy Aliases: Pachydermoperiostosis of nail Pachydermoperiostosis syndrome	ACSS2 CBR1 PTGS2	55902 5743 873	Homo sapiens (human)
DOID:4927	Klatskin's tumor Aliases: Klatskin tumor Klatskin tumour Klatskin's tumour Perihilar extrahepatic bile duct carcinoma hilar cholangiocarcinoma hilar cholangiocellular carcinoma	ARSA HK1 LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC2 SMUG1	23583 3098 3958 410 5290 5291 5293 5294 5315 6383	Homo sapiens (human)
DOID:0111141	delayed sleep phase syndrome Aliases: DSPD	CRY1	1407	Homo sapiens (human)
DOID:0110575	autosomal dominant nonsyndromic deafness 5 Aliases: DFNA5 autosomal dominant deafness 5	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:0060287	cornea plana Aliases: flat cornea	B3GALNT2 B3GLCT B4GAT1 CHST14 CRPPA CYP1B1 DAG1 DCN EBP FKRP FKTN HSPG2 LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SC5D SMC3	10329 10585 10682 11041 113189 145173 148789 1545 1605 1634 2218 29954 3339 55624 6309 729920 79147 84197 84892 9126 9215	Homo sapiens (human)
DOID:1673	pneumothorax	CHST14 PTGS1 PTGS2 SMUG1 TECR	113189 23583 5742 5743 9524	Homo sapiens (human)
DOID:0060405	chromosome 17q23.1-q23.2 deletion syndrome Aliases: 17q23.1-q23.2 microdeletion syndrome 17q23.1q23.2 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:9837	hypertropia	ACO2 ACOX1 ACSL4 ADPRS AGK ALDH5A1 ALDH7A1 ALG11 ALG3 ALG6 ATP6V0A2 ATP6V1A B3GALNT2 CACNA2D2 CACNA2D4 CHAT CHST14 COG5 COLEC11 COMT CYB5R3 CYP1B1 DDOST DHCR24 ECHS1 ELOVL4 EOGT EXT2 FCSK FKRP FKTN GALC GAS1 GFPT1 GK GMPPB HIBCH HSD17B4 INPP5E INPP5K L1CAM L2HGDH LARGE1 MDH2 MPDU1 NAGA NGLY1 NSDHL NYX OCRL PDHA1 PIGL PIGP PIGQ PIGT PIGY PLA2G6 PMM2 PNPLA6 POMGNT1 POMK POMT1 POMT2 PTEN RFT1 SDHA SGPL1 SLC2A10 SLC35A2 SLC39A8 SMC3 SUCLA2	10195 10466 10585 10908 1103 113189 1312 148789 1545 1650 1718 1727 1892 197258 2132 2182 2218 23545 2581 2619 26275 2673 2710 285203 29925 29929 29954 3295 3897 4191 440138 4668 4952 50 501 50814 51 51227 5160 51604 51763 523 5373 54936 55624 55750 55768 56623 5728 60506 6389 64116 6785 7355 78989 79147 7915 79944 81031 8398 84197 84992 8803 8879 9091 9126 91869 9215 9254 93589 9487 9526	Homo sapiens (human)
DOID:3702	cervical adenocarcinoma Aliases: adenocarcinoma cervix uteri adenocarcinoma of cervix adenocarcinoma of the uterine Cervix	ACE ADH1C AKR1B10 AKR1C3 ALPI ALPP ANXA5 APRT B3GNT3 B4GALT3 CACNA2D2 CALR CAT CD38 CD44 CD55 CDH13 CEACAM5 CEACAM7 CHI3L1 CLEC10A COMT CYP19A1 CYP1A1 CYP1B1 CYP2E1 CYP4F3 DCN DHCR24 EFNA2 FBP1 G6PD GALNT7 GCNT2 GLB1 GPC3 GPNMB GPX2 GPX3 HK2 HMMR HPGDS HPSE2 HPSE HS3ST2 ICAM1 IGF2R IL18R1 IL1R1 IL1RAP INPP4B ITPKC KL KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 LIPA LYPD5 MASP1 MASP2 MBD4 MBL2 MCAT MGLL MICA MMUT MPG MRC1 MSLN NT5E OGG1 OPCML PARP1 PARP2 PC PDIA3 PGD PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLPP1 PRKAA2 PRSS21 PTEN PTGS1 PTGS2 RECK RGN SDC1 SDHA SDHD SIRT2 SMUG1 SOAT1 ST3GAL3 ST3GAL4 ST6GAL1 ST6GALNAC5 STS STT3A TFF1 TKT TKTL1 TM7SF2 TNFRSF10C TP53 UGCG VTCN1 XPNPEP2	10038 100507436 1012 10232 10331 10457 10462 1048 10747 10855 1087 10942 1116 11343 126 1312 142 1543 1545 1571 1588 1604 1634 1636 1718 1943 2203 22914 22933 23583 248 250 2539 2651 2719 2720 27306 27349 284348 2877 2878 2923 308 3099 3161 3383 3482 353 3554 3556 3703 3897 3939 3956 3958 3965 3988 4051 412 4153 4350 4360 4594 4907 4968 4978 5091 51809 5226 5290 5291 5293 5294 5315 5321 5563 5648 57016 5728 5742 5743 60495 6382 6389 6392 6480 6484 6487 6646 7031 7086 7108 7157 7357 7512 79679 80271 811 81849 8277 8434 847 8611 8644 8703 8794 8809 8821 8930 9104 9254 9365 952 960 9956	Homo sapiens (human)
DOID:0070330	multiple mitochondrial dysfunctions syndrome Aliases: fatal multiple mitochondrial dysfunction syndrome	GCSH	2653	Homo sapiens (human)
DOID:6587	breast tubular carcinoma Aliases: Invasive tubular carcinoma of breast invasive tubular breast carcinoma tubular carcinoma of breast	CDH13	1012	Homo sapiens (human)
DOID:0110810	hereditary spastic paraplegia 5A Aliases: SPG5A autosomal recessive spastic paraplegia 5A autosomal recessive spastic paraplegia type 5A	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:4001	ovarian carcinoma	ABO ACACA ACE ACLY ACOT7 ACSL3 ADH1A ADH1B ADH4 ADPRH AGPAT2 AKR1C1 AKR1C3 AKT2 ALDH2 ALDH5A1 ALOX12 ALOX12B ALOX15 ALOX5 ALPP ANXA4 ANXA5 ARF4 B4GALNT1 BDH2 BPHL BST1 C1GALT1 CALR CAT CBR1 CBR3 CD14 CD248 CD33 CD44 CD55 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHI3L1 CHKA CHPT1 CHST11 CHST15 CHST3 CLEC10A CLEC14A CNTN2 CNTN4 CNTN6 COMT CS CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP27B1 CYP2B6 CYP2C8 CYP3A4 CYP3A5 DCN DHCR24 DHDDS DPEP2 ECHDC1 EFNA1 ENOSF1 ENPP2 FASN FBP1 FCN2 FCN3 FOLR1 FOLR2 FUT1 FUT8 G6PC1 GALNT14 GALNT1 GALNT3 GALNT6 GALT GAPDH GBE1 GBGT1 GCNT3 GFPT2 GGT1 GLB1 GOLPH3 GPC1 GPC3 GPC5 GPC6 GPI GPX1 GPX3 GPX6 GUSB HACD1 HK2 HMGCS2 HMMR HPGDS HPSE HS3ST2 HSD11B2 HSD17B12 HSD17B1 HSD17B2 HSD17B7 HSPG2 HYAL1 ICAM1 IDH1 IDH2 IDS IGF2R IL1R1 IMPA1 INPP4B IPMK KL KLRK1 L1CAM LCAT LDHA LGALS1 LGALS3 LGALS8 LY75 MAN1A1 MASP2 MCAT MDH2 MGAT3 MICA MRC1 MSLN MTMR14 NCAM1 NEU1 NEU3 NT5E OGA OGG1 OPCML OVGP1 PARG PARP1 PCYT1A PDHX PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLAUR PLB1 PLCG1 PLCZ1 PLPP1 PNP PNPLA2 PPAT PRKAA2 PRNP PRSS21 PRSS41 PRSS8 PSAP PTEN PTGDS PTGS1 PTGS2 RENBP SCD SDC1 SELP SFTPD SHMT1 SIRT2 SIRT6 SLC2A3 SLC2A4 SLC2A5 SLC35A2 SMPD1 SMUG1 SOAT1 SPAM1 SPHK1 SRD5A2 ST3GAL1 ST6GAL1 ST6GALNAC1 STS SULF1 SULT1E1 TFF1 TKT TM7SF2 TNFRSF10C TNKS TUSC3 TYMP UGCG UGT1A1 UGT2A1 UGT2A2 UMOD VCAM1 VCAN VTCN1	100507436 10082 1012 10232 10462 1048 10555 10724 10747 10825 10855 1087 10941 10942 1116 1119 11226 11332 124 125 127 1312 141 142 1431 1462 151056 152330 1543 1544 1545 1555 1558 1576 1577 1586 1588 1594 1604 161198 1634 1636 1645 1718 1890 1942 208 217 2181 2194 2203 2220 2262 22914 22933 23213 2348 2350 23583 239 240 242 246 250 2523 2530 253430 2538 257202 2583 2589 2591 2592 2597 26301 2632 2678 2719 2720 27255 27306 27349 28 2817 2821 2876 2878 2923 2990 307 308 3099 31 3158 3161 3291 3292 3294 3339 3373 3383 3417 3418 3423 3482 3554 360226 3612 378 3897 3931 3939 3956 3958 3964 4065 412 4121 4191 4248 4360 4680 4684 47 4758 4860 4907 4968 4978 5016 50515 51144 5130 51363 51478 51548 5168 5230 5290 5291 5293 5294 5315 5319 5329 5335 54658 5471 55556 5563 55808 55862 5621 5652 5660 56898 56913 56994 57104 57124 57214 5728 5730 5742 5743 574537 5973 6319 6382 6403 64083 64174 6441 64419 6470 6480 6482 6515 6517 6518 6609 6646 6677 670 6716 6783 683 6900 7031 7086 7108 7355 7357 7369 7412 7915 79623 79679 7991 79947 8050 811 847 8505 8547 8611 8644 8658 873 874 8794 8821 8877 89869 9200 9245 929 9365 945 9469 960 9945 9956	Homo sapiens (human)
DOID:0110548	autosomal dominant nonsyndromic deafness 17 Aliases: DFNA17 autosomal dominant deafness 17	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:305	carcinoma Aliases: epithelial cancer epithelioma malignant Epithelioma	ABO ACACA ACACB ACE ACSL1 ACSL5 ACSM1 ADH1B ADH1C ADH4 ADH5 AGXT AKR1B10 AKR1B1 AKR1C3 ALDH2 ALDH3A1 ALDH5A1 ALDH7A1 ALDOA ALOX15 ALOX15B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ARSA ASAH1 ATP6AP2 B3GAT1 B4GALNT2 BAAT C1GALT1 CACNA2D3 CALR CAT CBR1 CD109 CD14 CD1D CD248 CD33 CD38 CD44 CD55 CD74 CDH13 CDS1 CEACAM5 CEACAM6 CEACAM7 CERS2 CHGA CHPT1 COLEC10 CPT1A CPT2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27B1 CYP2E1 CYP3A5 CYP3A7 CYP4F3 DAG1 DBT DCN DCXR DHCR24 DHDH ECI1 EFNA1 ENO1 ENO2 ENPP1 ENPP3 FASN FBP1 FCGR3B FH FOLR1 FUT1 FUT3 FUT4 FUT6 G6PC1 GALNT3 GALNT6 GAPDH GCNT1 GGT1 GLB1 GLO1 GLUL GOLPH3 GPC3 GPLD1 GPX2 GPX3 GUSB HAGH HAS1 HAS2 HAS3 HK2 HMGCS2 HMMR HPGDS HPSE HSD17B12 HSD17B7 HSD3B1 HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 IDH1 IDH2 INPP4B ITLN1 KLRK1 L1CAM LDHA LDHB LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LMAN1 LPCAT1 LPIN1 LPL LY6K LY75 LYPD5 LYPLA1 MAN2C1 MBD4 MCAT MDH2 MELTF MGAT5 MICA MINPP1 MMP25 MPG MRC1 MSLN MTAP MUTYH NAMPT NCAM1 NEIL1 NEU1 NEU3 NT5E NTHL1 OGG1 OPCML PARP1 PDHA1 PDIA3 PFKM PGAM1 PGK1 PGP PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G6 PLAUR PLCD1 PLCE1 PLCG1 PLD1 PLD2 PLPP2 PNP POFUT1 PPP1R3A PRKAA2 PRNP PRPS1 PSMD10 PTEN PTGDS PTGES3 PTGES PTGS1 PTGS2 PYGM QTRT1 RECK SCD SDC1 SELE SEMA7A SFTPC SHMT1 SIGLEC12 SIGLEC9 SIRT2 SIRT6 SLC2A2 SLC35A2 SMC3 SMUG1 SPAM1 SPHK1 SPHK2 SRGN ST3GAL4 ST3GAL6 ST6GAL1 ST8SIA4 STS SULF1 SULF2 SULT1E1 TKT TKTL1 TM7SF2 TNKS TYMP UGCG UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B7 UMPS VCAN VTCN1	100507436 1012 10135 10159 10232 1040 10402 10434 1048 10584 10728 10825 10855 1087 1113 11226 116285 124872 125 126 127 128 128869 135228 1374 1376 142 1462 1543 1544 1545 1551 1571 1577 1586 1588 1591 1594 1604 1605 1629 1632 1634 1636 1718 189 1890 1942 2023 2026 217 218 2180 2194 2203 2215 226 2271 22914 22933 231 23175 23213 2348 23509 23583 23600 240 246 247 248 250 2523 2525 2526 2528 2538 2591 2597 2650 2678 27087 27180 2719 2720 27294 27306 27349 2739 2752 28 2822 283871 284348 2877 2878 2923 2990 29956 3029 3036 3037 3038 307 308 3099 31 3158 3161 32 3283 3339 3373 3383 3417 3418 353 3897 3939 3945 3956 3958 3960 3964 3965 3998 4023 4051 4065 410 412 4123 4191 4241 4249 427 4350 4360 4507 4595 4680 4684 4758 4860 4907 4913 4968 4978 501 51144 51181 51196 51478 51548 5160 5167 5169 51703 5213 5223 5230 5289 5290 5291 5293 5294 5315 5319 5320 5329 5333 5335 5337 5338 54575 54576 54577 54578 54579 54600 54657 54658 54659 54742 5506 5552 55600 5563 55799 55959 5621 5631 56848 56886 56913 56994 570 57016 57124 5716 5728 5730 5742 5743 5837 6319 6382 6401 64083 64386 6440 6470 6480 6484 6514 6677 6783 7086 7108 7355 7357 7364 7372 7903 7915 79661 79679 79888 811 81890 8277 8372 8398 8434 847 8482 8612 8644 8658 8692 873 8821 8877 8930 89858 912 9126 929 945 952 9536 9562 960 972	Homo sapiens (human)
DOID:0050477	Liddle syndrome Aliases: Liddle's syndrome Pseudoaldosteronism	CYP11B1 CYP11B2 CYP17A1 HSD11B2 PTGS2	1584 1585 1586 3291 5743	Homo sapiens (human)
DOID:9534	tuberculous pneumothorax	ACACA ACE ACOT7 ALOX5 CD14 CD209 CD44 CDH13 CEL CLEC4E CYP2E1 ENO2 FCGR3B FCN2 GUSB HSD11B1 ICAM1 IL1R1 LTA4H LYZ MASP1 MBL2 MRC1 NTM PARP9 SELE SELL SFTPA1 SFTPA2 SIGLEC1 SLC27A5 SLC39A8 SMUG1 SOAT1 TM7SF2	1012 1056 10998 11332 1571 1636 2026 2215 2220 23583 240 26253 2990 30835 31 3290 3383 3554 4048 4069 4153 4360 50863 5648 6401 6402 64116 653509 6614 6646 7108 729238 83666 929 960	Homo sapiens (human)

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