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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2851 - 2875** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:3001	female reproductive endometrioid cancer Aliases: endometrioid neoplasm endometrioid tumor	PTEN	5728	Homo sapiens (human)
DOID:9631	Pelger-Huet anomaly	ABO ANXA5 IDH1 IDH2 LTC4S PRKAA2 PRNP	28 308 3417 3418 4056 5563 5621	Homo sapiens (human)
DOID:2891	thyroid adenoma Aliases: adenoma of thyroid gland	ABO ACACA ACE AGK AGPS AKR1C2 ALOX12 ALOX15 AMACR ANXA5 APRT ARSA ASAH1 BAAT CAT CD1D CD44 CD74 CEACAM5 CNTN1 CYB5R3 CYP19A1 CYP1A1 CYP24A1 CYP27B1 CYP2B6 CYP3A4 DCN DPEP1 ENPP2 FH FUCA1 G6PD GAPDH GFRA1 GLB1 GPC3 GPD2 GPLD1 GPX1 GPX3 GUSB HPGDS HPRT1 HPSE HSPG2 ICAM1 IDH1 IDH2 IDUA IGF2R IL1R1 INPP4B KL KLB L1CAM LDHA LGALS16 LGALS1 LGALS3 MBL2 MICA MINPP1 MRC1 MUTYH NAMPT NCAM1 NTHL1 PARP1 PARP4 PFKFB3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2R1 PRKAA2 PTEN PTGDS PTGES2 PTGES3 PTGS1 PTGS2 QPRT RECK RPIA SCD SDC1 SDC2 SDC4 SDHB SDHC SDHD SIRT4 SLC2A3 SMUG1 SOAT1 SORD SPHK1 TKTL1 ULBP2 UPP1 VCAN VTCN1	100507436 10135 1048 10728 10855 1272 142 143 1462 148003 152831 1543 1555 1576 1588 1591 1594 1634 1636 1646 1727 1800 2271 22925 22934 23409 23475 23583 23600 239 246 2517 2539 2597 2674 2719 2720 27306 28 2820 2822 2876 2878 2990 308 31 3251 3339 3383 3417 3418 3425 3482 353 3554 3897 3939 3956 3958 410 4153 427 4360 4595 4684 4913 5168 5209 5290 5291 5293 5294 5315 5563 55750 570 5728 5730 5742 5743 6319 6382 6383 6385 6390 6391 6392 6515 6646 6652 7378 79679 80142 80328 8277 8434 847 8540 8821 8877 912 9365 9562 960 972	Homo sapiens (human)
DOID:1927	sphingolipidosis Aliases: sphingolipidoses	ARSA ASAH1 CHIT1 CYP11A1 GALC GBA1 GLA GLB1 IDUA OGA PSAP SGPL1 SMPD1 SMPD2 SMPDL3A	10724 10924 1118 1583 2581 2629 2717 2720 3425 410 427 5660 6609 6610 8879	Homo sapiens (human)
DOID:530	eyelid disease	ALOX5 CEACAM5 CYP27A1 EPHX2 G6PC1 GPC1 PTGS1 SLC37A4	1048 1593 2053 240 2538 2542 2817 5742	Homo sapiens (human)
DOID:4362	cervical cancer Aliases: cervical neoplasm cervix cancer cervix uteri cancer neoplasm of uterine cervix tumor of the Cervix Uteri uterine cervical neoplasm	ACE ADH1C AKR1B10 AKR1C1 AKR1C3 ALPI ALPP ANXA5 APEX1 APRT B3GNT3 B4GALT2 B4GALT3 BAAT CACNA2D2 CALR CAT CBR1 CD38 CD44 CD55 CDH13 CEACAM5 CEACAM7 CHI3L1 CLEC10A COMT CYP19A1 CYP1A1 CYP1B1 CYP2E1 CYP4F3 DCN DHCR24 EFNA2 FBP1 FOLR1 G6PD GALNT7 GAPDH GCNT2 GLB1 GPC1 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 MELTF MGLL MICA MMUT MPG MRC1 MSLN NT5E OGG1 OPCML PARP1 PARP2 PC PDIA3 PGD PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PIP5KL1 PKM PLA2G4A PLPP1 PRKAA2 PRSS21 PTEN PTGS1 PTGS2 RECK SDC1 SDHA SDHD SIRT2 SMUG1 SOAT1 SPHK1 ST3GAL3 ST3GAL4 ST6GAL1 ST6GALNAC5 STS STT3A TIPARP TKT TKTL1 TM7SF2 TNF TNFRSF10C TYMP UGCG VTCN1 XPNPEP2	10038 100507436 1012 10232 10331 10457 10462 1048 10747 10855 1087 10942 1116 11343 126 1312 138429 142 1543 1545 1571 1588 1604 1634 1636 1645 1718 1890 1943 2203 22914 22933 2348 23583 248 250 2539 2597 25976 2651 2719 2720 27306 27349 2817 284348 2877 2878 2923 308 3099 3161 328 3383 3482 353 3554 3556 3703 3897 3939 3956 3958 3965 3988 4051 412 4153 4241 4350 4360 4594 4907 4968 4978 5091 51809 5226 5238 5290 5291 5293 5294 5315 5321 5563 5648 570 57016 5728 5742 5743 60495 6382 6389 6392 6480 6484 6487 6646 7086 7108 7124 7357 7512 79679 80271 811 81849 8277 8434 847 8611 8644 8703 8704 873 8794 8809 8821 8877 8930 9254 9365 952 960 9956	Homo sapiens (human)
DOID:3594	choriocarcinoma Aliases: Chorioepithelioma	ABO AKR1C3 ALPI ALPP ANXA5 APRT ATRNL1 CAT CD1D CD44 CHST3 CYP11A1 CYP19A1 CYP1B1 CYP4F3 DHRS11 DLD EBP ENPP3 HMMR HPRT1 HPSE HSD11B2 HSD17B1 HSD17B7 HSD3B1 IGF2 IL1R1 KLRC1 LGALS1 MCAT MRC1 OLR1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PTEN SDC1 SDHC SLC2A3 SMUG1 VCAN	10682 10855 1462 1545 1583 1588 1738 23583 248 250 26033 27349 28 308 3161 3251 3283 3291 3292 3481 353 3554 3821 3956 4051 4360 4973 51478 5169 5290 5291 5293 5294 5315 5728 6382 6391 6515 79154 847 8644 912 9469 960	Homo sapiens (human)
DOID:0110497	autosomal recessive nonsyndromic deafness 39 Aliases: DFNB39 autosomal recessive deafness 39	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:0080347	malignant pheochromocytoma Aliases: Pheochromocytoma, malignant	SDHB	6390	Homo sapiens (human)
DOID:0111454	SHORT syndrome Aliases: Aarskog-Ose-Pande syndrome Lipodystrophy-Rieger anomaly-diabetes syndrome Rieger anomaly-partial lipodystrophy syndrome short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:5870	eosinophilic pneumonia Aliases: Pneumonia, eosinophilic	ALPL CEL CHI3L1 HPGDS IL1R1 IL1RL1 ISYNA1 PARP9 PTGDS SIGLEC8 SIRT2 SLC27A5	1056 10998 1116 22933 249 27181 27306 3554 51477 5730 83666 9173	Homo sapiens (human)
DOID:11984	hypertrophic cardiomyopathy Aliases: hypertrophic obstructive cardiomyopathy	ABO ACACA ACADL ACADS ACADVL ACE ACSL1 ADPRH AGK AGL AGPAT2 ALDH2 ALG1 APRT ARSB ARSD ATP6V1A ATRN CALR3 CALR CAT CBR1 CBR3 CHST3 CNTN3 COG7 CPT1A CPT2 CS CYP11B2 CYP1A1 CYP1B1 CYP27B1 CYP2C19 CYP2C9 CYP2E1 DAG1 DCN DLD DPM3 ECHS1 EPHX2 FASN FIG4 FKRP FKTN FUT4 G6PD GAA GAPDH GBE1 GLA GLB1 GMPPB GNE GNPTAB GPC3 GPX3 GUSB GYG1 GYS1 HADH HADHA HADHB HAS3 HJV HPGDS HPSE ICAM1 IDH2 IDUA IGF2R IL1RL1 KL LDHA LGALS3 LPL MASP2 MBL2 MCAT MGAM MGAT1 MLYCD MMUT MTMR14 NAGA NAMPT NCAM1 NEU1 OLR1 PARP1 PCCA PCCB PDHA1 PGK1 PGM1 PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKD1 PLA2G7 PMM2 PNPLA2 POMGNT1 POMK POMT1 PRKAA2 PTEN PTGS2 SCD5 SCD SDHA SDHB SDHD SGSH SI SIRT4 SLC2A10 SLC33A1 SLC5A1 SMUG1 SORD ST3GAL4 SUCLG1 SULT1E1 TPI1	10020 10135 10555 10585 10747 10855 125972 1374 1376 141 142 1431 148738 1543 1545 1557 1559 1571 1585 1594 1605 1634 1636 1738 178 1892 200576 2053 217 2180 2194 2218 23409 23417 23583 2526 2539 2548 2597 2632 2717 2719 2720 27306 27349 28 2878 2990 2992 29925 2997 3030 3032 3033 3038 31 33 3383 3418 3425 3482 35 353 37 3939 3958 4023 411 414 4153 4245 4594 4668 4684 4758 4973 5067 5095 5096 5160 523 5230 5236 5289 5290 5291 5293 5294 5310 5373 54344 55624 5563 55750 56052 57104 5728 5743 6319 6389 6390 6392 64419 6448 6476 6484 6523 6652 6783 7167 79147 79158 7941 79966 81031 811 84197 8455 847 873 874 8802 8972 9173 91949 9197 9365 9469 9896	Homo sapiens (human)
DOID:0110213	isolated cleft palate	ALPP ATRNL1 B3GALT6 B3GAT3 B3GLCT CAT CHST14 CHST3 COL9A2 COLEC10 COLEC11 COMT CYP1A2 CYP24A1 DHCR24 EBP FKRP FKTN G6PC3 GAD1 GAS1 GMPPB GPC3 HSPG2 INPP5E INPPL1 LARGE1 LFNG MASP1 MRC1 MTMR3 NT5E PGAP2 PGAP3 PGM1 PIGL PIGN PIGO PIGP PIGQ PLCB4 POMT1 POMT2 SC5D SELENOI SLC26A2 SLC35D1 SMC3 SRD5A3 SRGN TGDS TIGAR TKTL1 XYLT1	10584 10585 10682 113189 126792 1298 1312 145173 1544 1591 1718 1836 2218 23169 23483 23556 250 2571 26033 2619 26229 2719 27315 29925 29954 3339 3636 3955 4360 4907 51227 5236 5332 5552 5648 56623 57103 6309 64131 78989 79147 79644 8277 847 84720 85465 8897 9091 9126 9215 92579 93210 9469 9487	Homo sapiens (human)
DOID:602	cancerophobia Aliases: Fear of getting cancer cancer phobia	TMTC3	160418	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:0014667	disease of metabolism Aliases: metabolic disease	ACACA ACADM ACAT1 ACE ACHE ACLY ACOX1 ACSF3 ADH1B AGL AGXT AKR1C3 AKR1D1 AMT APRT ARSA BAAT CAT CD14 CD248 CD38 CD74 CDH13 CEACAM5 CERS6 CFC1 COL9A2 CPT1A CPT2 CTNS CYP11B1 CYP11B2 CYP1B1 CYP21A2 CYP2B6 CYP2C19 CYP2C9 CYP7A1 CYP7B1 CYP8B1 DGAT1 DLD ECHS1 ELOVL6 ENO3 ENPP2 FASN G6PC1 G6PD GAA GAD2 GALC GALK1 GALNS GALNT3 GALNT8 GALT GBE1 GCDH GCK GLA GLDC GLUL GNPTAB GPIHBP1 GPX1 GPX3 GYG1 GYS2 HADH HADHA HSD11B1 HSD11B2 IDH1 IDH2 IDUA INPP5K INPPL1 INS KHK KL KLB L2HGDH LCAT LDHA LDHAL6A LDHAL6B LDHB LDHC LGALS3 LPIN2 LPL MACROD1 MBD4 MCEE MGAT1 MGAT2 MGAT4A MMUT MOGAT2 MRC1 NAMPT OGG1 OLR1 PARP1 PARP2 PCCA PCCB PCK2 PDHA1 PDHA2 PDHX PFKL PFKM PFKP PGAM2 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKLR PKM PLA2G4A PMM2 PNP PNPLA2 PNPLA3 PRKAA2 PRPS1 PTEN PTGES PTGS2 PYGM RPIA SARM1 SCD SFTPD SI SIGLEC12 SIRT4 SIRT6 SLC17A5 SLC26A2 SLC2A2 SLC2A4 SLC2A5 SLC37A4 SLC5A1 SMPD1 SMUG1 SORD ST3GAL4 STS SULF1 SULT1E1 TALDO1 TM7SF2 TPI1 UMPS VCAM1 VNN1 VNN2	10038 1012 10135 1048 11320 125 1298 1374 1376 142 1497 152831 1545 1555 1557 1559 1581 1582 1584 1585 1589 160287 1636 1738 178 1836 189 1892 197322 2027 2194 22934 23098 23213 23409 23583 253782 2538 2539 2542 2548 2572 2581 2584 2588 2591 2592 26290 2632 2639 2645 26503 2717 2731 275 2752 283871 2876 2878 28992 2992 2998 3030 3033 31 3290 3291 338328 34 3417 3418 3425 353 3630 3636 3795 38 3931 3939 3945 3948 3958 4023 410 412 4245 4247 43 4360 4594 47 4860 4968 4973 5095 5096 51 5106 51548 5160 5161 5168 51763 5211 5213 5214 5224 5236 5290 5291 5293 5294 5310 5313 5315 5321 5373 5563 55997 5631 570 57104 57124 5728 5743 5837 6319 6441 6476 6484 6514 6517 6518 6523 6609 6652 6718 6783 6888 7108 7167 7372 7412 79071 79158 79944 80168 80339 8050 84693 847 8644 8694 8875 8876 8930 89858 92483 929 9365 9420 952 9536 9663 972	Homo sapiens (human)
DOID:0110190	Charcot-Marie-Tooth disease type 4B2 Aliases: CMT4B2 Charcot-Marie-Tooth neuropathy type 4B2 autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:4697	perineurioma Aliases: soft tissue Perineurioma	ACHE PTEN SMUG1	23583 43 5728	Homo sapiens (human)
DOID:0050835	generalized dystonia Aliases: familial dystonia fragments of torsion dystonia	ALDH5A1 ARSG CYP2U1 DBT DPEP1 ECHS1 GAD1 GCDH GLB1 GPI HIBCH MECR PDHA1 PLA2G6 SCP2 SLC39A8 SMUG1 SUCLA2	113612 1629 1800 1892 22901 23583 2571 26275 2639 2720 2821 51102 5160 6342 64116 7915 8398 8803	Homo sapiens (human)
DOID:11577	Cauda equina syndrome	ACER3 ALG1 CD38 COG5 COG7 ELOVL1 GBE1	10466 2632 55331 56052 64834 91949 952	Homo sapiens (human)
DOID:0111162	epidermal nevus Aliases: nonepidermolytic keratinocytic nevus	NSDHL PIK3CA PTEN	50814 5290 5728	Homo sapiens (human)
DOID:0111037	glycine N-methyltransferase deficiency Aliases: GNMT deficiency hypermethioninemia due to GNMT deficiency hypermethioninemia due to glycine N-methyltransferase deficiency	GNMT	27232	Homo sapiens (human)
DOID:8553	pyoderma gangrenosum	SOAT1	6646	Homo sapiens (human)
DOID:10602	obsolete steatorrhea	ACOX2 BAAT CYP7B1 HSD3B7 LIPA PNLIP	3988 5406 570 80270 8309 9420	Homo sapiens (human)
DOID:9622	kidney hypertrophy	ACE ALOX12 CAT DCN KL SIRT6	1634 1636 239 51548 847 9365	Homo sapiens (human)

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