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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 **1901 - 1925** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:10393	secondary hypertrophic osteoarthropathy Aliases: Bamberger-Marie disease HPOA - hypertrophic pulmonary osteoarthropathy Marie Bamberger disease hypertrophic pulmonary osteoarthropathy	CBR1 CD55 DPEP1 PTEN PTGS2 SFTPA1 SFTPA2 SFTPC	1604 1800 5728 5743 6440 653509 729238 873	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:5041	esophageal cancer Aliases: Ca lower third oesophagus Ca middle third oesophagus esophagus cancer malignant neoplasm of distal third of esophagus malignant neoplasm of lower third of oesophagus malignant neoplasm of middle third of oesophagus malignant neoplasm of proximal third of esophagus malignant neoplasm of upper third esophagus malignant tumor of Distal Third of esophagus malignant tumor of Proximal Third of esophagus malignant tumor of abdominal esophagus malignant tumor of the middle Third of the esophagus	ABO ACACA ACE ACSS2 ADH1B ADH1C ADH4 ADH7 AKR1A1 AKR1B10 AKR1C3 AKT1 ALDH2 ALOX15B ANXA7 ARSA B3GAT1 BDH2 C1GALT1 CALR CD38 CDH13 CEACAM5 CEACAM7 CHGA CHST15 CNTN1 COG8 CYP19A1 CYP1A1 CYP1B1 CYP24A1 CYP2C19 CYP2C9 CYP2E1 CYP3A5 DAG1 DCN DEGS1 DGKH DHCR24 ENO1 FASN G6PD GAPDH GML GOLPH3 GPX3 HPGDS HPRT1 HPSE HSPG2 ICAM1 ICAM2 IL18R1 LGALS3 LGALS9 LY6K MAN2C1 MRC1 MTAP NANP NANS NEIL1 OGG1 PARP1 PARP2 PCYT1A PDHA1 PGD PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G15 PLA2G2A PLCE1 PLOD3 PNP PRKAA2 PSMD10 PTEN PTGES3 PTGES PTGS1 PTGS2 RECK RPN2 SDHA SDHB SDHC SHMT2 SIGLEC1 SIRT6 SLC35A2 SMUG1 SOAT1 ST6GAL1 ST6GAL2 ST8SIA4 TM7SF2 TUSC3 UGT1A1 UGT1A8 UGT2B4 UMOD UMPS UNG VTCN1	10038 1012 10327 1048 10728 10855 1087 1113 125 126 127 1272 131 140838 142 1543 1545 1557 1559 1571 1577 1588 1591 1605 160851 1634 1636 1718 2023 207 217 2194 23583 23659 247 2539 2597 27087 27306 2765 28 2878 31 310 3251 3339 3383 3384 3958 3965 410 4123 4360 4507 4860 4968 51196 5130 51363 51548 5160 5226 5230 5290 5291 5293 5294 5315 5320 54187 54576 54658 54742 5563 55902 56898 56913 57016 5716 5728 5742 5743 6185 6389 6390 6391 64083 6472 6480 6614 6646 7108 7355 7363 7369 7372 7374 7903 79661 79679 7991 811 8434 84342 84620 8560 8644 8809 8985 952 9536	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:318	progressive muscular atrophy Aliases: Pure progressive muscular atrophy progressive spinal muscular atrophy	ACAT2 ACE ACHE ADH5 ALOX15 ALOX5 ALPI ALPP APRT ARSF ASAH1 ATRNL1 CALR CANX CAT CBR1 CD14 CEACAM6 CHGA CHI3L1 CHI3L2 CHIT1 CHODL CHST2 CLEC10A CNTFR CNTN1 CS CTBS CYP19A1 CYP1A1 CYP1A2 CYP27A1 DGAT1 DHDDS DLD EFNA5 FCGR3B FCN2 FCN3 FIG4 FUT1 GAL3ST1 GAPDH GBA1 GFRA1 GLCE GLT8D1 GLUL GM2A GPNMB GPX3 GPX7 HADHA HEXA HK1 HPGDS HSPG2 IGF2R IL18R1 INPP5B KDSR KL LGALS1 LGALS2 LGALS3 LGALS4 MDH1 MGAM MGLL MRC1 NAMPT NCAM1 NGLY1 OGA PARP1 PCYT1B PDIA3 PGK1 PIGL PLA2G4A PLCB1 PLCD1 PNPLA6 PRNP PSAP PTEN PTGES PTGS2 SARM1 SCD SI SIGLEC7 SIRT2 SIRT6 SLC33A1 SLC35A1 SMUG1 SOAT1 ST3GAL3 SULT1E1 SYNJ1 SYNJ2 THEM4 TMED9 TNKS UGCG	10135 10457 10462 10559 10724 10908 1113 1116 1117 1118 11343 117145 1271 1272 128 140578 142 1431 1486 1543 1544 1588 1593 1636 1738 1946 2215 2220 22933 23098 23236 23583 240 246 248 250 2523 2531 2597 26033 26035 2629 2674 27036 27306 2752 2760 2878 2882 2923 3030 3073 3098 3339 3482 353 3633 39 3956 3957 3958 3960 416 4190 427 43 4360 4680 4684 51548 5230 5321 5333 54732 55768 55830 5621 5660 5728 5743 6319 6476 6487 6646 6783 7357 79947 811 821 847 8547 8658 8694 873 8809 8867 8871 8972 9197 929 9365 9435 9468 9487 9514 9536 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0050628	advanced sleep phase syndrome Aliases: familial advanced sleep-phase syndrome	PER2	8864	Homo sapiens (human)	Alliance of Genome Resources
DOID:3713	ovary adenocarcinoma Aliases: Ovarian adenocarcinoma ovarian adenoacanthoma	CYP24A1 NEU1 NEU3 PTGS2 SMUG1	10825 1591 23583 4758 5743	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111681	glutamate-cysteine ligase deficiency Aliases: gamma-glutamylcysteine synthetase deficiency hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	GCLC	2729	Homo sapiens (human)	Alliance of Genome Resources
DOID:5154	borna disease Aliases: Enzootic encephalomyelitis	ALDOC ATF4 CD44 PARG PARP1	142 230 468 8505 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1134	gingival recession Aliases: Gingival recession, localized localized gingival recession minimal gingival recession moderate gingival recession severe gingival recession	FIG4 LCT	3938 9896	Homo sapiens (human)	DisGeNET
DOID:8252	chronic rhinitis Aliases: Rhinitis - chronic	NT5E	4907	Homo sapiens (human)	DisGeNET
DOID:4702	mongolian spot Aliases: Mongolian Macula	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:0110828	Usher syndrome type 3 Aliases: USH3	ARSG ASAH1 PLD4	122618 22901 427	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110540	autosomal recessive nonsyndromic deafness 98 Aliases: DFNB98 autosomal recessive deafness 98	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:3737	verrucous carcinoma Aliases: Warty carcinoma verrucous squamous carcinoma verrucous squamous cell carcinoma	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:0110506	autosomal recessive nonsyndromic deafness 49 Aliases: DFNB49 autosomal recessive deafness 49	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:14271	acute cholangitis	CAT	847	Homo sapiens (human)	DisGeNET
DOID:0110558	autosomal dominant nonsyndromic deafness 2A Aliases: DFNA2A autosomal dominant deafness 2A	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:0080325	tuberous sclerosis 2	NTHL1 PKD1 PTEN	4913 5310 5728	Homo sapiens (human)	DisGeNET
DOID:0050589	inflammatory bowel disease	ABO ACACA ACAT1 ACAT2 ACE ACHE ACO2 ACSBG1 ACSL1 ACSS2 ADIPOQ AGA AKR1B10 ALDH5A1 ALDOB ALOX5 ALPI ALPP AMACR AMT AMY1A AMY1B AMY1C ARSA ARSF ASAH2 ATP6V0A2 B3GAT1 BCKDHA C1GALT1C1 CALR CAT CBR1 CD14 CD1D CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS1 CERS2 CHGA CHI3L1 CHPT1 CHST15 CHST2 CLEC10A CLEC12A CLEC16A CLEC7A CPT1A CTBS CYP19A1 CYP1A1 CYP21A2 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP3A4 CYP3A5 CYP4F2 CYP4F3 CYP7B1 DAG1 DHDDS DLD DPEP1 EFNA5 ELOVL7 ENO1 EPHX2 FADS1 FADS2 FASN FCER2 FCGR3B FCN2 FCN3 FH FUT2 FUT3 FUT4 G6PC3 GAL3ST1 GAL3ST2 GALC GALM GALNT2 GAPDH GGT1 GLB1 GP2 GPX1 GPX2 GUSB HADHA HMMR HPGDS HPRT1 HPSE HSD11B1 HSD11B2 HYAL2 ICAM1 ICAM2 IDH1 IDH2 IDUA IGF2 IL18R1 IL18RAP IL1R1 IL1RL1 IL1RL2 INPP5D IPMK ISYNA1 ITLN1 KLRK1 L1CAM LACC1 LCT LGALS1 LGALS2 LGALS3 LGALS4 LGALS9 LPIN2 LPL LTA4H LYZ MACROD2 MASP2 MBL2 MCAT ME1 MGAT1 MGAT3 MGAT5 MGLL MICA MPG MRC1 MTMR3 MUTYH NAAA NAMPT NCAM1 NEU1 NPL NT5E OGG1 PAFAH1B1 PARP1 PC PCYT1B PGAP3 PGD PGP PIGA PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG2 PNPLA3 PRKAA2 PRNP PSAP PSMD10 PTEN PTGDS PTGES PTGS1 PTGS2 REG1B RFT1 SDC1 SELE SELL SFTPA1 SFTPD SGPP1 SGPP2 SLC2A3 SLC2A5 SLC35A1 SLC39A8 SMPD1 SMUG1 SOAT1 SPHK1 ST6GALNAC1 STS SUCLA2 SULT1E1 TBXAS1 TIGAR TKT TNF TNFRSF10C TUSC3 UGT1A1 UGT1A7 ULBP1 UST VCAM1 VCAN VNN1 YDJC	100507436 10090 1012 10135 10462 1048 10559 10715 10747 10855 1087 1113 1116 11343 130367 130589 1374 140733 142 144811 1462 1486 150223 151056 1543 1555 1557 1559 1571 1573 1576 1577 1588 1589 1594 160364 1604 1605 1636 1738 175 1800 1946 2023 2053 2180 2194 2208 2215 2220 2271 229 22914 23205 23274 23545 23583 23600 23659 240 248 250 2524 2525 2526 253430 2581 2590 2597 2678 27087 27163 2720 27306 27349 275 276 277 278 28 2813 283871 2876 2877 29071 2990 29956 3030 30835 31 3161 3251 3290 3291 3383 3384 3417 3418 3425 3481 3554 3635 38 3897 39 3938 3956 3957 3958 3960 3965 3992 4023 4048 4051 4069 410 412 4153 416 4199 4245 4248 4249 43 4350 4360 4595 4680 4684 4758 4907 4968 50 5048 5091 51363 51477 5226 5277 5289 5290 5291 5293 5294 5315 5319 5320 5321 5336 54577 54658 55600 5563 55808 55902 5621 5660 56624 56994 57016 57103 5716 5728 5730 5742 5743 593 5968 6382 6401 6402 64090 64116 6441 64581 6515 6518 653509 6609 6646 6783 6916 7086 7124 7412 7915 7941 7991 79947 79993 80329 80339 80896 811 81537 8398 8399 847 8529 8547 8692 873 8794 8803 8807 8808 8809 8876 8877 8897 912 9173 91869 92579 929 93210 9370 9415 9420 9435 945 9468 9514 952 9536 960 9663 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:9538	multiple myeloma Aliases: myeloma	ABO ACE ACSBG1 ALOX5 ALPI ALPP AMY1A AMY1B AMY1C ANXA5 APRT B3GAT1 BST2 CANX CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD74 CEACAM6 CHI3L1 CHPT1 CLEC12A COLEC10 CPT1C CRYBG1 CYP1A1 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP3A4 DCN DHCR24 DHDDS DLD ENO1 ENPP1 ENPP2 EXT1 FASN FCER2 FCGR3B FDPS FH FOLR1 FOLR2 FUT1 G6PD GAPDH GBA1 GLB1 GLO1 GPX1 GPX3 HAS1 HAS2 HK1 HK2 HMMR HPGDS HPSE2 HPSE ICAM1 IDH1 IDH2 IDUA IGF2R IL1RL1 INPP5D INPPL1 KL KLRB1 KLRC1 KLRK1 LDHA LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LPL MBL2 MCAT MICA MINPP1 MMP25 MPG MRC1 NAGLU NAMPT NCAM1 NEIL1 OGA PAFAH1B1 PARP14 PARP1 PCYT1A PFKFB3 PIGA PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLAUR PPT2 PRKAA2 PSAP PSMD10 PTEN PTGS1 PTGS2 RECK RENBP RPIA SDC1 SELE SELL SELP SIGLEC1 SIRT6 SLC2A12 SLC2A4 SLC2A8 SLC35A4 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST3GAL6 TDG TNF TNFRSF10C TNKS TP53 TYMP UGCG ULBP2 VCAM1 VCAN	100507436 10135 10402 10584 10724 10855 1116 113829 126129 142 1462 154091 1543 1545 1555 1557 1558 1559 1576 160364 1634 1636 1718 1738 1890 200576 202 2023 2131 2194 2208 2215 2224 2271 22914 22934 23205 2348 2350 23583 240 248 250 2523 2539 2597 2629 27087 2720 27306 27349 2739 276 277 278 28 2876 2878 29988 3036 3037 308 3098 3099 3161 3383 3417 3418 3425 3482 353 3635 3636 3820 3821 3939 3956 3958 3960 3964 3965 4023 4153 4350 4360 4669 4680 4684 5048 5130 51548 5167 5168 5209 5277 5290 5291 5293 5294 5315 5329 54625 5552 5563 5660 56848 56994 5716 5728 5742 5743 5973 60495 6382 6401 6402 6403 64386 6517 6609 6614 6646 684 6996 7124 7157 7357 7412 79661 79947 80328 821 8434 847 8658 8794 8877 912 9173 929 933 9365 9374 945 952 9562 960 962 972	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110865	congenital stationary night blindness 1B Aliases: CSNB1B autosomal recessive complete congenital stationary night blindness congenital stationary night blindness 1B autosomal recessive	NYX	60506	Homo sapiens (human)	DisGeNET
DOID:12361	Graves' disease Aliases: Grave's disease Graves disease exophthalmic goiter	ABO ACACA ACE ADIPOQ ALG1 ANXA5 APRT ATP6AP2 B3GNT2 BAAT BDH1 CALR CAT CD14 CMAS COMT CS CYP19A1 CYP1A1 CYP21A2 CYP27B1 CYP2C9 CYP2R1 CYP7A1 DEGS1 ENPP2 FCER2 FCGR3B FUT2 GAD1 GAD2 GLO1 GLUL GPX1 ICAM1 IL18R1 IL18RAP IL1RL1 KLRC1 LGALS9 LYZ MBL2 NAMPT NCAM1 NT5E OGG1 PARP1 PC PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PPT1 PRKAA2 PTEN PTGDS SCD SELE SELL SIGLEC1 SLC2A3 SLC2A4 SMUG1 ST3GAL1 ST6GAL1 TM7SF2 TNF TP53 UGDH UGT1A1 UGT2B17 VCAM1	10135 10159 10678 120227 1312 142 1431 1543 1559 1581 1588 1589 1594 1636 2208 2215 23583 2524 2571 2572 2739 2752 28 2876 308 31 3383 353 3821 3965 4069 4153 4684 4907 4968 5091 5130 5168 5290 5291 5293 5294 5319 5320 54658 5538 5563 55907 56052 570 5728 5730 622 6319 6401 6402 6480 6482 6515 6517 6614 7108 7124 7157 7358 7367 7412 811 8398 847 8560 8807 8809 9173 929 9370	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:6163	familial renal papillary carcinoma Aliases: Hereditary Papillary renal carcinoma	FH	2271	Homo sapiens (human)	DisGeNET
DOID:10211	cholelithiasis	ACAT2 ACSS2 ALDOA BPGM CAT COMT CYP17A1 CYP27A1 CYP7A1 CYP8B1 DPEP1 G6PD GNE GPX1 GPX3 GUSB HK1 MICA OGG1 PFKM PKLR PLA2G10 PLA2G15 PLA2G2A PNPLA3 PTGS2 SLC35A2 SMPD1 SMUG1 ST8SIA4 SULT1E1 TPI1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	10020 100507436 1312 1581 1582 1586 1593 1800 226 23583 23659 2539 2876 2878 2990 3098 39 4968 5213 5313 5320 54575 54576 54577 54578 54579 54600 54657 54658 54659 55902 56886 5743 6609 669 6783 7167 7355 7903 80339 8399 847	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060305	megalocornea Aliases: anterior megalophthalmos congenital anterior megalophthalmia	FKRP FKTN GMPPB GNPTAB LARGE1 POMGNT1 POMK POMT1 POMT2 SLC2A10	10585 2218 29925 29954 55624 79147 79158 81031 84197 9215	Homo sapiens (human)	DisGeNET
DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia	ACAN ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 DDOST EXT1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1650 176 1890 2131 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET

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