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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 **4951 - 4975** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:11367	congenital aphakia Aliases: APHAKIA, CONGENITAL PRIMARY Congenital absence of lens	CYP4F3 NTM	4051 50863	Homo sapiens (human)	DisGeNET
DOID:14775	brittle cornea syndrome 1 Aliases: type VIB Ehlers-Danlos syndrome	CHST14	113189	Homo sapiens (human)	DisGeNET
DOID:206	hereditary multiple exostoses Aliases: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas	ACAN CHST3 EXT1 EXT2 EXTL1 EXTL2 EXTL3 HPSE HSPG2 IDH1 IDH2 SDC2 SLC35B2 SULT1E1 UXS1	10855 176 2131 2132 2134 2135 2137 3339 3417 3418 347734 6383 6783 80146 9469	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:10112	sleeping sickness Aliases: African sleeping sickness African trypanosomiasis	ACHE DDOST GAPDH MTAP PIGB SMUG1 STT3A STT3B	1650 201595 23583 2597 3703 43 4507 9488	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:9663	aphthous stomatitis Aliases: Aphtha Aphthous ulceration Canker sore Oral aphthae oral ulcer	CAT CYP21A2 ENO1 GTDC1 LGALS1 LYZ SLC37A4 VCAM1	1589 2023 2542 3956 4069 7412 79712 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:12143	neurogenic bladder Aliases: Neuropathic bladder neurogenic dysfunction of the urinary bladder neurogenic urinary bladder disorder	ACER3 ALG1 CD38 COG5 COG7 ELOVL1 GBE1	10466 2632 55331 56052 64834 91949 952	Homo sapiens (human)	DisGeNET
DOID:4394	reticulohistiocytic granuloma Aliases: Reticulohistiocytoma solitary reticulohistiocytoma	KLRK1 LYZ MTAP	22914 4069 4507	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0050795	cone dystrophy Aliases: retinal cone dystrophy	CACNA2D4	93589	Homo sapiens (human)	DisGeNET
DOID:4889	lymph node tuberculosis Aliases: Tuberculous adenitis Tuberculous lymphadenopathy king's evil scrofula	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:205	hyperostosis Aliases: bone hypertrophy hypertrophy of bone	ALPL ANXA5 EBP EXT1 EXT2 GALNT3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	10682 2131 2132 249 2591 308 5290 5291 5293 5294 5728	Homo sapiens (human)	DisGeNET
DOID:119	vaginal cancer Aliases: malignant neoplasm of vagina malignant tumor of vagina malignant vaginal tumor neoplasm of vagina vagina neoplasm vaginal tumor	FH SMUG1	2271 23583	Homo sapiens (human)	DisGeNET
DOID:0111414	trichohepatoenteric syndrome Aliases: SD/THE Syndromic diarrhea/Tricho-hepato-enteric syndrome THES Tricho-hepato-enteric syndrome phenotypic diarrhea syndromic diarrhea	ACE AGPAT2 B3GLCT B4GALT7 BCKDHA CALR CBR1 CHGA CHST3 CNTN3 CNTN4 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP2B6 DLD FH GALT GBA2 HPSE2 HSD11B2 IDS LPIN2 LPL MAG MRC1 MUTYH NDUFAB1 OCRL PAFAH1B1 PIGA PIK3CA PRNP PTEN PTGS2 SDHD SLC33A1 SLC35A2 SMC3 ST3GAL5 STS SUCLA2 TECTA TKT TNKS UGT1A1 XYLT2	10555 1113 11285 145173 152330 1555 1583 1584 1585 1586 1588 1589 1636 1738 2271 2592 3291 3423 4023 4099 412 4360 4595 4706 4952 5048 5067 5277 5290 54658 5621 5728 5743 57704 593 60495 6392 64132 7007 7086 7355 811 8658 873 8803 8869 9126 9197 9469 9663	Homo sapiens (human)	DisGeNET
DOID:297	pleomorphic adenoma carcinoma Aliases: carcinoma ex pleomorphic adenoma carcinoma in pleomorphic adenoma	FASN	2194	Homo sapiens (human)	DisGeNET
DOID:10286	prostate carcinoma Aliases: cancer of prostate carcinoma of prostate	ABO ACACA ACAT1 ACE ACHE ACLY ACO1 ACO2 ACOT7 ACOX3 ACSL3 ACSL4 ACSM3 ACSS2 ADH1C ADH5 AGK AKR1A1 AKR1B10 AKR1C1 AKR1C2 AKR1C3 AKT2 ALDH1A3 ALDH1B1 ALDH3A1 ALDH7A1 ALOX12 ALOX12B ALOX15 ALOX15B ALOX5 ALPI ALPL ALPP AMACR ANXA4 ANXA5 ANXA7 APRT ARSB ARSF ARSG ASAH1 ATF4 ATP6AP2 ATRNL1 B3GAT1 B3GNT2 B3GNT6 B4GALT4 BAAT BAD BST1 C1GALT1 CACNA2D2 CACNA2D3 CALR CANX CAT CBR1 CCDC115 CD109 CD14 CD177 CD1D CD33 CD38 CD44 CD48 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEMIP CERS2 CHGA CHI3L1 CHIT1 CHKA CHPT1 CHST14 CLEC10A CLGN CMAS CNTN1 COMT CPT1A CPT2 CRYBG1 CRYL1 CTBS CYB5R2 CYP11A1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2E1 CYP2R1 CYP39A1 CYP3A4 CYP3A5 CYP4F3 CYP4F8 CYP7B1 DAG1 DCN DCXR DDOST DEGS1 DGAT1 DGAT2 DGKK DGKZ DHCR24 DHDDS DHDH DHRS11 DLD DLST DPEP1 ECI2 EDEM3 EFNA2 EFNA5 EHHADH ELOVL3 ELOVL5 ELOVL7 ENO1 ENO2 ENPP1 ENPP2 EPHX2 FASN FBP1 FBXO44 FCN2 FDFT1 FDPS FH FMOD FUT1 FUT3 FUT4 FUT5 FUT6 FUT7 FUT8 G6PD GAD1 GAD2 GAL3ST2 GALNS GALNT3 GALNT4 GAPDH GCK GCNT1 GFRA1 GGT1 GLB1 GLCE GLDC GLO1 GLUL GOLPH3 GPC1 GPC3 GPC5 GPLD1 GPNMB GPX1 GPX2 GPX3 GRHPR GUSB HACD1 HADHA HADHB HAGH HAO1 HAS3 HK2 HMGCS1 HMGCS2 HMMR HPGDS HPRT1 HPSE2 HPSE HSD11B1 HSD17B12 HSD17B1 HSD17B2 HSD17B3 HSD17B4 HSD17B6 HSD17B7 HSD3B1 HSD3B2 HSPG2 HYAL1 ICAM1 ICAM5 IDH1 IDH2 IGF2R INPP4B ISYNA1 KL KLB KLRB1 KLRG2 KLRK1 L1CAM LARGE2 LCT LDHA LDHB LDHC LGALS1 LGALS3 LGALS4 LGALS8 LIPA LPCAT1 LPCAT2 LPIN1 LPIN2 LPL LTA4H LYPD5 LYPLA1 M6PR MAG MAN2A1 MAN2C1 MASP1 MBL2 MCAT MDH2 MGAT1 MGAT4C MGAT5 MGLL MICA MRC1 MTAP MUTYH NAAA NAGK NAGLU NANS NCAM1 NDST2 NDST4 NEU1 NEU2 NEU3 NPL NT5E OGG1 OLR1 OPCML PARP1 PARP2 PARP9 PCK2 PCYT1A PCYT1B PDHA1 PDIA3 PFKFB3 PFKFB4 PGAM1 PGAM2 PGK1 PI4KA PIGP PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1A PKD1 PKD1L3 PKD2 PKLR PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLA2R1 PLAAT3 PLAUR PLB1 PLCG1 PLD1 PLD2 PLPP4 PNP PNPLA2 PPP1R3A PPT1 PRG2 PRKAA2 PRNP PRSS8 PSAP PSMD10 PTEN PTGDS PTGES2 PTGES3 PTGES PTGS1 PTGS2 RECK RENBP RGMA RGMB RGN RPN2 SARM1 SCD SDC1 SDHC SELE SFTPA2 SFTPD SHMT1 SHMT2 SIGLEC12 SIGLEC1 SIGLEC7 SIRT2 SIRT6 SLC2A12 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A2 SLC35B4 SLC35G1 SLC3A1 SMC3 SMPD1 SMUG1 SOAT1 SORD SPAM1 SPHK1 SPHK2 SQLE SRD5A1 SRD5A2 SRD5A3 ST3GAL1 ST3GAL3 ST6GAL1 ST6GALNAC3 ST8SIA4 STS SUCLG2 SULF2 SULT1E1 SULT2B1 TBXAS1 TKTL1 TM7SF2 TMED3 TMED9 TNFRSF10C TNKS TUSC3 TYMP UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B10 UGT2B11 UGT2B15 UGT2B17 UGT2B28 UGT8 UMPS UNG VCAM1 VCAN XPNPEP2	10038 100507436 1012 10159 10327 10434 10455 10457 10462 1047 1048 10678 10720 10728 10825 10855 1113 11145 1116 1118 1119 11283 113189 11332 11343 120071 120227 126 1272 128 1312 135228 1374 1376 139189 142 1462 1486 151056 152831 154091 1543 1544 1545 1555 1557 1558 1571 1576 1577 1583 1585 1586 1588 1591 1593 159371 1594 1604 1605 1634 1636 1645 1646 1650 1718 1738 1743 1800 1890 192134 1943 1946 196051 1962 202 2023 2026 2053 208 218 2181 2182 219 2194 220 2203 2220 2222 2224 2262 2271 22901 22914 22925 22933 23098 23175 2331 23423 23583 23600 23659 239 240 242 246 247 248 249 250 2523 2525 2526 2527 2528 2529 2530 2539 256435 2571 2572 25834 2588 2591 2597 26033 26035 2645 2650 2674 2678 27036 27087 27163 2719 2720 27294 27306 2731 27349 2739 2752 28 2817 2822 284348 285704 2876 2877 2878 2923 2990 29956 3029 3030 3032 3038 307 308 3099 31 310 3157 3158 3161 3251 3283 3284 3290 3292 3293 3294 3295 3339 3373 3383 3417 3418 342372 346689 3482 353 38 3820 3897 3938 3939 3945 3948 3956 3958 3960 3964 3988 4023 4048 4051 4074 4099 411 412 4123 4124 4153 416 4191 4245 4249 427 43 4360 4507 4595 4669 468 4680 4684 47 4758 4759 48 4860 4907 4968 4973 4978 50 501 5106 51084 51144 51181 51227 5130 51302 51477 51478 51548 5160 5167 5168 51700 5209 5210 5223 5224 5230 5287 5290 5291 5293 5294 5297 5310 5311 5313 5315 5319 5320 5321 5329 5335 5337 5338 54187 54363 54490 54575 54576 54577 54578 54579 54600 54657 54658 54659 54732 54947 5506 5538 5553 55577 5563 55750 55799 55902 55907 55959 5621 5648 5652 5660 56848 56886 56913 56963 56994 570 57016 57104 57126 5716 572 57214 5728 5730 5742 5743 5973 60481 60495 6185 6296 6319 6382 6391 6401 64083 64090 6441 64579 6470 6472 6480 6482 6487 6515 6517 6518 6519 6609 6614 6646 6652 6677 6713 6715 6716 6783 6820 683 6916 7087 7108 729238 7355 7365 7366 7367 7368 7372 7374 7412 7512 7903 79154 7941 79644 79888 7991 79947 79993 80142 80267 80896 811 821 8277 8310 83401 83666 8394 8398 8399 84317 8434 84649 847 84912 8509 8525 8560 8630 8644 8658 8693 8694 8702 873 8794 8801 8821 8877 89858 9104 912 9126 9197 9200 9254 929 93611 9365 9380 9420 945 9468 952 9536 960 962 9663 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:3312	bipolar disorder Aliases: Manic Bipolar Affective disorder Manic Depressive disorder Manic bipolar I disorder bipolar depression bipolar disorder manic phase manic depression manic disorder mixed bipolar disorder	ABO ACACA ACADS ACE ACHE ACO1 ACO2 ACSL4 ADIPOQ AKR1C4 AKT1 ALDH2 ALOX12 CALR CAT CDH13 CDS1 CEACAM5 CHI3L1 CLEC10A CNTN4 CNTN5 CNTN6 COMT CS CYP19A1 DGCR2 DGKB DGKH EHHADH ETNPPL FADS1 FADS2 FUT3 G6PD GAD1 GAD2 GALC GFRA2 GLO1 GLT8D1 GPX3 GSK3B HPGDS HPSE HSD3B2 HSPG2 IDH1 IDH2 IDH3A IDH3B IL18R1 IL1R1 IMPA1 IMPA2 INPP1 KL L1CAM LDHA LMAN2L MACROD1 MACROD2 MBL2 MDGA1 ME2 MGAT4A MPPE1 MRC1 NCAM1 NCAN NPL NTNG1 PARP10 PARP9 PC PFKFB3 PFKL PGAM1 PGAP3 PGP PI4K2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PIP4K2C PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PLCB1 PLCB4 PLCG1 PNPLA3 POGLUT2 PRNP PTGDS PTGS1 PTGS2 RBKS RPN2 SCD SDHC SIGLEC7 SLC35F4 SMPD1 SMUG1 SPTLC1 SRD5A1 ST3GAL1 ST3GAL3 ST8SIA2 STT3A SYNJ1 TMTC1 TPI1 UXS1	1012 1040 10462 1048 10558 10855 1109 1116 11320 1312 140733 1431 1463 151056 152330 1588 1607 160851 1636 1962 207 217 2182 22854 23236 23583 239 2525 2539 2571 2572 2581 266727 2675 27036 27255 27306 2739 28 283871 2878 28992 2932 31 3284 3339 3417 3418 341880 3419 3420 35 3554 3612 3613 3628 3703 3897 3939 3992 4153 4200 43 4360 4684 48 50 5091 5209 5211 5223 5289 5290 5291 5293 5294 5305 5319 5320 5321 5332 5335 53942 55300 55830 5621 5730 5742 5743 6185 6319 6391 64080 6482 64850 6487 65258 6609 6715 7167 79070 79837 80146 80339 80896 811 8128 81562 83666 83857 8398 8399 847 84875 8809 8867 93210 9365 9370 9415 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110517	autosomal recessive nonsyndromic deafness 66 Aliases: DFNB66 autosomal recessive deafness 66	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)	DisGeNET
DOID:0050629	Aicardi-Goutieres syndrome Aliases: AGS Cree encephalitis	CYP7A1 GAD2 GGT1 INPP5K PTGS2 TKTL1	1581 2572 2678 51763 5743 8277	Homo sapiens (human)	DisGeNET
DOID:11121	pulpitis Aliases: pulp stones	IL18R1 IL1R1 SIRT6 TLR4	3554 51548 7099 8809	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:11824	multicentric reticulohistiocytosis Aliases: Lipoid dermatoarthritis	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:9988	tertiary neurosyphilis Aliases: late neurosyphilis	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:10611	protein-losing enteropathy Aliases: Enteropathy, exudative Exudative enteropathy	ALG8 CD55 COG8 DGAT1 MPI PIK3C2A PTEN	1604 4351 5286 5728 79053 84342 8694	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080124	mitochondrial DNA depletion syndrome 5 Aliases: succinate-CoA ligase deficiency	SUCLA2 SUCLG1 TYMP	1890 8802 8803	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2734	keratosis follicularis Aliases: DARIER-WHITE DISEASE Darier's disease	ACE AKR1B1 ALDH3A2 ALDH7A1 ALOX12B ALPL AMY2B APRT CANX CERS3 DGAT1 EBP ELOVL4 ENPP1 GBA1 GLA GNPTAB HPGDS HSD17B6 ICAM1 LPIN2 MPDU1 NCAM1 NT5E PKD1 PLA2G1B PNPLA2 PNPLA6 POGLUT1 PTEN PTGS2 SELE SELL SELP SGPL1 SMUG1 STS SULT2B1 XYLT1 XYLT2	10682 10908 1636 204219 224 231 23583 242 249 2629 2717 27306 280 3383 353 412 4684 4907 501 5167 5310 5319 56983 57104 5728 5743 6401 6402 6403 64131 64132 6785 6820 79158 821 8630 8694 8879 9526 9663	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0080556	congenital disorder of glycosylation Id Aliases: congenital disorder of glycosylation 1d	ALG3 MPDU1 PMM2	10195 5373 9526	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:0060836	isolated microphthalmia 4 Aliases: MCOP4	ALDH1A3	220	Homo sapiens (human)	DisGeNET DisGeNET

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