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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 **3976 - 4000** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:446	primary hyperaldosteronism Aliases: Cushing syndrome Cushing's syndrome hyperaldosteronism	ACAT1 ACE AKR1B1 APRT ATP6AP2 CD44 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP3A4 CYP4F3 FASN FH G6PD HSD11B1 HSD11B2 HSD3B1 HSD3B2 LGALS3 OCRL PRSS8 PTGS2 SLC26A2 SLC33A1 SLC5A1 SMUG1	10159 1576 1583 1584 1585 1586 1588 1589 1636 1836 2194 2271 231 23583 2539 3283 3284 3290 3291 353 38 3958 4051 4952 5652 5743 6523 9197 9469 960	Homo sapiens (human)
DOID:0050749	peripheral T-cell lymphoma	CD1D CD44 CLEC10A CYP3A4 IDH1 IDH2 LGALS1 MTAP NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PNP SMUG1 SOAT1 TM7SF2	10462 1576 23583 3417 3418 3956 4507 4684 4860 5290 5291 5293 5294 6646 7108 912 960	Homo sapiens (human)
DOID:0110154	Charcot-Marie-Tooth disease type 2A1 Aliases: CMT2A1 Charcot-Marie-Tooth disease neuronal type 2A1 Charcot-Marie-Tooth neuropathy type 2A1 HMSN IIA1 HMSN2A1 autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1 hereditary motor and sensory neuropathy IIA1	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:3878	obsolete intestinal pseudo-obstruction	IDS L1CAM PTEN SDHD	3423 3897 5728 6392	Homo sapiens (human)
DOID:2883	prostatic adenoma Aliases: adenoma - prostate adenoma of prostate benign adenoma of prostate prostate adenoma	ACE ACSS2 AKR1B10 ALDH7A1 ALOX12 ALOX15 ALOX15B ALOX5 AMACR ANXA7 CANX CAT CD177 CD44 CHIT1 COMT CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP2B6 CYP3A4 CYP3A5 EFNA2 ELOVL6 ENO2 ENPP1 ENPP2 GALNT3 GGT1 GLCE GOLPH3 GPC1 HMMR HPGDS HPSE HSD17B1 HSD17B2 HSD17B3 HSD17B7 ISYNA1 KLB LDHA LGALS8 LPL LYZ MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLD1 PRG2 PTEN PTGS2 RECK RENBP SLC33A1 SRD5A1 SRD5A2 STS SULF1 SULT1E1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT2B15 UGT2B17 UMPS VCAN	10855 1118 1312 1462 152831 1543 1545 1555 1576 1577 1583 1586 1588 1636 1943 2026 23213 23600 23659 239 240 246 247 2591 26035 2678 27306 2817 310 3161 3292 3293 3294 3939 3964 4023 4069 412 4360 501 51477 51478 5167 5168 5290 5291 5293 5294 5337 54575 54576 54577 54578 54657 54658 5553 55902 57016 57126 5728 5743 5973 64083 6715 6716 6783 7366 7367 7372 79071 821 8434 847 9197 960	Homo sapiens (human)
DOID:9540	vascular skin disease	AGA FUCA1 NEU1 PLAUR PTEN TM7SF2	175 2517 4758 5329 5728 7108	Homo sapiens (human)
DOID:10914	amnestic disorder Aliases: Amnestic syndrome Korsakoff's psychosis or syndrome amnesia	ABAT ACE ACHE ACSF3 ADH1B AKR1A1 ALDH2 ALOX5 ARSA ARSD CAT CD38 CD44 CD74 CHAT CHI3L1 COMT CPT1A CYP1A2 CYP1B1 DLST ELOVL3 ELOVL6 FKRP FUT10 GAD1 GAD2 GLUL GNE GPX1 HGSNAT HSD11B1 HSD11B2 IDS INPPL1 IRS2 KL LGALS3 LGALS4 MYORG NAGLU NAMPT NEU3 NT5E OGA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLA2G6 PLD1 PLD2 PPT1 PRKAA2 PRNP PSAP PTEN PTGS1 PTGS2 SDHD SFTPA1 SLC17A5 SLC2A4 SMPD1 SMUG1 SPHK2 ST3GAL4 STS SUCLA2 SYNJ1 TKT UGT1A1	10020 10135 10327 10724 10825 1103 1116 125 1312 1374 138050 142 1544 1545 1636 1743 18 197322 217 23583 240 2571 2572 26503 2752 2876 3290 3291 3423 3636 3958 3960 410 412 414 43 4669 4907 5290 5291 5293 5294 5315 5321 5337 5338 54658 5538 5563 5621 5660 56848 5728 5742 5743 57462 6392 6484 6517 653509 6609 7086 79071 79147 83401 8398 847 84750 8660 8803 8867 9365 952 960 972	Homo sapiens (human)
DOID:1824	status epilepticus Aliases: Grand mal status	ABAT ACAN ACHE ALDH5A1 ALDH7A1 AMACR APEX1 APOD ATP6V0A2 ATP6V1A CAT CD33 CD44 COG8 CPT2 CYP11A1 CYP19A1 DHCR24 DHDDS EPM2A FH FIG4 FUT2 GALC GAPDH GPAA1 GSK3B HSD11B1 IDH1 IDH2 IL6ST KCNJ11 MGLL NT5E OGDH OGG1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLAUR PTEN PTGES PTGS2 ST3GAL5 SYNJ1 TMED9 TNF UGCG UGT1A1 UGT1A6 UGT1A7	11343 1376 142 1583 1588 1718 176 18 2271 23545 23600 2524 2581 2597 2932 328 3290 3417 3418 347 3572 3767 43 4907 4967 4968 501 523 5290 5291 5293 5294 5321 5329 54577 54578 54658 54732 5728 5743 7124 7357 7915 7957 79947 84342 847 8733 8867 8869 945 9536 960 9896	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:4463	multilocular clear cell renal cell carcinoma Aliases: cystadenocarcinoma of kidney renal cystadenocarcinoma	PTEN	5728	Homo sapiens (human)
DOID:3181	oligodendroglioma Aliases: oligodendroglial neoplasm oligodendroglial tumor	ACLY CD44 CHI3L1 CNTN2 CSPG4 DHDDS ENO2 FASN GLUL HPSE HSPG2 IDH1 IDH2 LGALS1 LGALS3 MMUT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLA2G4C PLCB1 PTEN PTGES3 PTGS2 SDHB SULT1E1 UGT8	10728 10855 1116 1464 2026 2194 23236 2752 3339 3417 3418 3956 3958 4594 47 5290 5291 5293 5294 5321 5728 5743 6390 6783 6900 7368 79947 8605 960	Homo sapiens (human)
DOID:0110131	Bardet-Biedl syndrome 9 Aliases: BBS9	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0050169	cutaneous lupus erythematosus	SOAT1	6646	Homo sapiens (human)
DOID:0050657	Bannayan-Riley-Ruvalcaba syndrome Aliases: Bannayan-Zonana syndrome Cowden syndrome 1 Riley-Smith syndrome Ruvalcaba-Myhre-Smith syndrome	ACAN ACAT1 ACE ARSD CEACAM6 CHST3 COL9A2 CYP11A1 DGCR2 GPX1 IL18RAP INPP5E MBL2 MUTYH PIGX PIK3CA PIK3CB PIK3CD PIK3CG PTEN SCD SDC1 SDHB SDHC SDHD SORD	1298 1583 1636 176 2876 38 414 4153 4595 4680 5290 5291 5293 5294 54965 56623 5728 6319 6382 6390 6391 6392 6652 8807 9469 9993	Homo sapiens (human)
DOID:9087	anal carcinoma in situ Aliases: anal carcinoma stage 0 anal intraepithelial neoplasia grade III carcinoma in situ of anal canal carcinoma in situ of anus	CD44 CEACAM5 CYP2B6 MBL2 MPG MUTYH OGG1 PIK3CA SMUG1 ST8SIA4 SULF1	1048 1555 23213 23583 4153 4350 4595 4968 5290 7903 960	Homo sapiens (human)
DOID:2839	erythropoietin polycythemia Aliases: Nephrogenous polycythemia Polycythaemia due to Excess Erythropoetin Production Polycythemia due to excess erythopoetin production Polycythemia, nephrogenous secondary polycythemia with excess erythropoietin	ACO1 BPGM CD177 CYB5R3 FH FUT1 G6PD HPRT1 PKLR SMUG1	1727 2271 23583 2523 2539 3251 48 5313 57126 669	Homo sapiens (human)
DOID:0080440	developmental and epileptic encephalopathy 3 Aliases: early infantile epileptic encephalopathy 3	AMT PIGA	275 5277	Homo sapiens (human)
DOID:0060291	oculodentodigital dysplasia Aliases: ODD syndrome	CYP1B1	1545	Homo sapiens (human)
DOID:11042	Felty's syndrome Aliases: Felty syndrome Rheumatoid arthritis with splenoadenomegaly and leukopenia	B3GAT1	27087	Homo sapiens (human)
DOID:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	ALG8 MAN1A1	4121 79053	Homo sapiens (human)
DOID:13098	central retinal artery occlusion	CYP1B1	1545	Homo sapiens (human)
DOID:0111027	hemochromatosis type 2A Aliases: HFE2A	HJV RGMA RGMB	148738 285704 56963	Homo sapiens (human)
DOID:1626	breast duct papilloma Aliases: duct papilloma of breast papilloma of the breast	PIK3CA	5290	Homo sapiens (human)
DOID:192	sex cord-gonadal stromal tumor Aliases: Sex Cord-Stromal neoplasm Sex cord stromal tumour Specialized gonadal neoplasm Specialized gonadal tumor Specialized gonadal tumour sex cord-gonadal stromal tumour	CYP19A1 CYP2B6 LGALS3	1555 1588 3958	Homo sapiens (human)
DOID:0110112	atrial heart septal defect 7 Aliases: ASD with or without atrioventricular conduction defects atrial septal defect 7, with or without AV conduction defects atrial septal defect-atrioventricular conduction defects syndrome	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)

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