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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 **2001 - 2025** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:3168	squamous cell neoplasm Aliases: Epidermoid cell tumor squamous cell tumor	ADH4 ADH5 ADH7 AKR1A1 CEACAM5 CEACAM7 CHPT1 CYP1B1 CYP2E1 CYP2J2 DHDDS ENO2 GPX1 HPGDS KLRK1 LTA4H LYPD5 MICA PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLCE1 PTEN PTGS2	100507436 10327 1048 1087 127 128 131 1545 1571 1573 2026 22914 27306 284348 2876 4048 51196 5130 5290 5291 5293 5294 56994 5728 5743 79947	Homo sapiens (human)
DOID:13269	hereditary coproporphyria Aliases: Coproporphyrinogen oxidase deficiency hereditary coproporphyria porphyria	ACSM3 CPO	130749 6296	Homo sapiens (human)
DOID:0110511	autosomal recessive nonsyndromic deafness 59 Aliases: DFNB59 autosomal recessive deafness 59	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:0060798	hypomyelinating leukodystrophy 6 Aliases: H-ABC HABC HLD6 hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum hypomyelination with atrophy of basal ganglia and cerebellum	GBA1	2629	Homo sapiens (human)
DOID:0110409	retinitis pigmentosa 46 Aliases: RP46	IDH3B	3420	Homo sapiens (human)
DOID:4790	medulloepithelioma Aliases: Diktyoma, malignant Medulloepithelioma, central nervous system	ABO AMACR CD38 CHGA ENO2 HMMR HPGDS MELTF MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SIGLEC7 UGCG	1113 2026 23600 27036 27306 28 3161 4241 4360 5290 5291 5293 5294 5728 5743 7357 952	Homo sapiens (human)
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	ACADVL ACE ACOX1 ACSL4 ACSM3 AGRN AKR1A1 ALG11 ALG12 ALOX12B ARSB ARSG ASAH1 B3GALNT2 B3GLCT CA4 CACNA2D2 CAT CERS3 CHAT CHST14 CHST3 COG1 COG4 COG5 COG7 COL9A2 COLEC10 COLEC11 CTSA CYP7B1 DHCR7 DOLK EBP ECHS1 ENPP1 FIG4 FKTN FUCA1 G6PC3 GAA GALC GALNS GAS1 GBA1 GBA2 GCK GLA GLB1 GMPPA GMPPB GNS GPC3 GUSB HEXA HGSNAT HPGDS HS6ST1 HSD17B4 IDH2 IDH3A IDH3B IDS IDUA KDSR L2HGDH LGALS1 LRTOMT MAN2B1 MANBA MASP1 MBL2 MGAT2 MOGS MTAP NAGA NAGLU NEU1 NPL NT5E NTNG1 OTOA OTOG PCYT1A PDHA1 PGAP2 PGM3 PIGA PIGL PIGO PIGV PIK3C2A PIK3CA PLA2G6 PLCB4 PLOD3 PNPLA2 PNPLA6 POMGNT1 POMT1 PRPS1 PTDSS1 PTEN PTGDS PTGS2 RFT1 SC5D SCD SDHA SDHB SDHC SDHD SGPL1 SGSH SLC26A2 SLC33A1 SLC35A2 SLC35G1 SLC39A8 SMC3 SPTLC1 ST3GAL5 SUCLA2 SUMF1 TALDO1 TECTA TMTC2 TNF UGT1A1 XYLT2	10327 10466 10558 10584 10585 10682 10908 1103 113189 1298 138050 145173 146183 148789 159371 160335 1636 1717 1836 1892 204219 2182 220074 2218 22845 22854 22901 242 2517 2531 2548 2581 25839 2588 2619 2629 2645 2717 2719 2720 27306 27315 2799 285362 2990 29925 29926 3073 3295 340990 3418 3419 3420 3423 3425 37 375790 3956 411 4125 4126 4153 4247 427 440138 4507 4668 4669 4758 4907 51 5130 5160 5167 5238 5277 5286 5290 5332 54658 5476 55624 55650 5631 5648 57104 5728 5730 5743 57704 6296 6309 6319 6389 6390 6391 6392 64116 64132 6448 6888 7007 7124 7355 762 7841 78989 79087 79944 80896 8398 847 84720 8803 8869 8879 8985 9126 91869 91949 9197 9254 92579 9382 9394 9420 9469 9487 9791 9896	Homo sapiens (human)
DOID:2745	narcissistic personality disorder	COMT IMPA1	1312 3612	Homo sapiens (human)
DOID:3451	skin carcinoma Aliases: carcinoma of skin	CYP1A1 CYP27A1 CYP27B1 HPGDS HSD11B2 INPP5K MICA MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2	100507436 1543 1593 1594 27306 3291 4360 51763 5290 5291 5293 5294 5743	Homo sapiens (human)
DOID:0110718	Warburg micro syndrome 3 Aliases: Micro Syndrome 3 WARBM3	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:0090122	aromatase excess syndrome Aliases: AEXS familial hyperestrogenism hereditary prepubertal gynecomastia increased aromatase activity	ACACA AGPAT2 CD44 CFC1 CYP11B1 CYP19A1 CYP21A2 CYP2B6 H6PD IDH1 IDH2 PIGP PIGQ PTEN PTGS2 SLC35A2	10555 1555 1584 1588 1589 31 3417 3418 51227 55997 5728 5743 7355 9091 9563 960	Homo sapiens (human)
DOID:0060391	chromosome 13q14 deletion syndrome Aliases: deletion 13q14	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0110116	autoimmune lymphoproliferative syndrome type 2B Aliases: ALPS with recurrent viral infections ALPS2B CEDS Caspase 8 deficiency Caspase 8 deficiency syndrome Caspase eight deficiency state autoimmune lymphoproliferative syndrome type IIB autoimmune lymphoproliferative syndrome with recurrent viral infections	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:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	HS6ST2	90161	Homo sapiens (human)
DOID:6228	peritoneal serous papillary adenocarcinoma Aliases: primary serous papillary carcinoma of peritoneum	CEACAM7	1087	Homo sapiens (human)
DOID:1595	melancholic depression Aliases: endogenous depression major depressive disorder with melancholic features melancholia	ABO ACACA ACE ACHE ACOT7 ACOX1 ACSL4 ACSM1 ACSS2 ADH1B ADH1C AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH3A1 ALDH7A1 ALG8 ALOX5 ALPL AMACR AMT AMY1A AMY1B AMY1C ANXA4 APRT ARSA ARSD ARSG ARSI ATP6AP2 B3GALNT2 B3GAT1 B3GLCT BST1 CACNA2D1 CALR CAT CD14 CD38 CDH13 CHAT CHI3L1 CHPF CHPT1 CHST9 CLEC4E CNTN3 CNTN5 COL9A2 COMT CPT1A CRLS1 CS CSPG4 CYP17A1 CYP19A1 CYP1A2 CYP21A2 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP46A1 CYP7B1 DAG1 DEGS1 DGKB DGKG DGKH DHDDS DLD DPY19L3 EDEM1 ELOVL5 ENO2 EPHX2 EPM2A FADS1 FADS2 FDPS FIG4 FUT3 GAD1 GAD2 GALC GBA1 GLA GLB1 GLO1 GLT8D1 GLUL GOLPH3 GPI GPX1 GPX6 HACD3 HPGDS HPSE HS6ST1 HSD11B1 HSD3B2 ICAM1 IDS IDUA IL1R1 IMPA2 INPP5K INPPL1 KL LARGE1 LDHA LGALS1 LGALS3 LIPA LMAN2L LPGAT1 LTA4H M6PR MAG MAN1B1 MBOAT7 MCAT MDGA1 MDH2 ME1 MGAM MGAT4B MPG MUTYH NANS NCAM1 NCAN NDST1 NDST3 NEIL1 NT5E NTM OCRL OGG1 OPCML PAFAH1B1 PARP14 PARP15 PARP1 PDIA3 PFKFB3 PGAP1 PGD PGP PIGC PIK3CA PIK3CB PIK3CD PIK3CG PKLR PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PLCB1 PLCB4 PLCG1 PLPP5 PNPLA2 PNPLA6 PPP1R3B PPP1R3C PPT1 PRNP PSAP PTEN PTGDS PTGS1 PTGS2 RGN SCD SDHD SELE SELP SGMS2 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A4 SLC33A1 SLC35G1 SMPD1 SMUG1 SOAT1 SRD5A1 ST3GAL3 ST3GAL4 ST6GALNAC2 ST8SIA4 STT3A SUCLA2 SULT1E1 TECR TGDS TNKS2 TNKS TUSC3 UGCG UPP2 VCAM1 XYLT2	1012 10159 10327 10610 10855 10858 10908 1103 1109 1116 11253 11282 11332 116285 125 126 1298 1312 1374 142 1431 145173 1463 1464 147991 148789 151056 151531 1544 1555 1557 1559 1571 1576 1586 1588 1589 1593 159371 1605 1607 1608 160851 1636 1646 165631 166929 1738 2026 2053 217 218 2182 2224 22901 22933 23236 23483 23583 23600 23659 240 249 2525 2571 2572 257202 2581 26253 2629 26503 266727 27036 27087 2717 2720 27306 27349 2739 275 2752 276 277 278 28 2821 283871 2876 2923 307 31 3284 3290 3340 3383 340075 3423 3425 353 3554 3613 3636 3703 3939 3956 3958 3988 3992 4048 4074 4099 410 414 4191 4199 43 4350 4595 4684 4907 4952 4968 4978 501 5048 5067 50863 51 51495 51548 51763 5209 5226 5279 5290 5291 5293 5294 5313 5319 5320 5321 5332 5335 53942 54187 54625 54675 5507 5538 55830 55902 5621 5660 56994 57104 5728 5730 5742 5743 60481 6319 6392 6401 6403 64083 64132 6448 6476 6484 6487 6517 6609 6646 6715 6783 683 7357 7412 781 7903 79053 79143 7957 79586 79660 79661 7991 79947 80055 80351 811 81562 83539 8398 84513 847 8560 8658 8803 8972 9104 9197 9215 929 9348 9365 9394 9415 9420 952 9524 9695 9896 9926	Homo sapiens (human)
DOID:8645	subacute delirium	ACHE ACSS2 COMT CYP3A5 ENO2 FCGR3B FIG4 LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 SOAT1 UGCG	1312 1577 2026 2215 23659 3958 43 5290 5291 5293 5294 55902 6646 7357 9896	Homo sapiens (human)
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	ABO ACE ALDH2 ALG9 ARSD B3GAT3 CFC1 COG7 DGCR2 EBP ENO1 ENO2 FKRP G6PC3 GALNT1 GCK GPX3 HAS2 HPGDS HYAL2 IDUA LGALS3 NTM OPCML PIGV PIK3CA PIK3CB PIK3CD PKD1 PKD2 PLCB2 PTEN PTGS2 RTN4RL1 SC5D SELP SFTPA1 SFTPA2 SHMT1 SLC2A3 SMUG1 TNFRSF10C WDR5	10682 11091 146760 1636 2023 2026 217 23583 2589 26229 2645 27306 28 2878 3037 3425 3958 414 4978 50863 5290 5291 5293 5310 5311 5330 55650 55997 5728 5743 6309 6403 6470 6515 653509 729238 79147 79796 8692 8794 91949 92579 9993	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)
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	COLGALT1	79709	Homo sapiens (human)
DOID:2580	rhizomelic chondrodysplasia punctata Aliases: Chondrodysplasia Punctata, Rhizomelic Form	AGPS FAR1 GNPAT	84188 8443 8540	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:7519	endocervical carcinoma Aliases: carcinoma of endocervix carcinoma of the Endocervix	PTGS2	5743	Homo sapiens (human)
DOID:11949	Creutzfeldt-Jakob disease Aliases: CJD Creutzfeldt Jacob syndrome Creutzfeldt Jakob disease Creutzfeldt-Jacob disease Jakob-Creutzfeldt disease Subacute spongiform encephalopathy Transmissible virus dementia	ACE ACHE ALG1 ALG3 ALPI ALPP AMT CAT CD33 CHGA CHI3L1 CHIT1 CYP46A1 DHCR24 ENO1 ENO2 FCN2 G6PD GALC GAPDHS GPI HPRT1 IDUA IGF2R INPP5D LGALS3 MDH1 MMUT MTMR7 NCAM1 OGDH PGAM1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLCG2 PRNP PTGES3 PTGS1 PTGS2 SDC3 SLC2A4 SMUG1 SRD5A3 STS SUCLA2 SULT1E1 SYNJ1 TPI1	10195 10728 10858 1113 1116 1118 1636 1718 2023 2026 2220 23583 248 250 2539 2581 26330 275 2821 3251 3425 3482 3635 3958 412 4190 43 4594 4684 4967 5223 5290 5291 5293 5294 5310 5336 56052 5621 5742 5743 6517 6783 7167 79644 847 8803 8867 9108 945 9672	Homo sapiens (human)
DOID:146	papilledema	CD38 ENO2 IDS SHMT1	2026 3423 6470 952	Homo sapiens (human)

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