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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 **4201 - 4225** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:2079	eccrine mixed tumor of skin Aliases: Eccrine mixed tumor Eccrine mixed tumour eccrine mixed tumour of skin mixed Eccrine neoplasm of the skin	CEACAM5	1048	Homo sapiens (human)	DisGeNET
DOID:7608	parathyroid adenoma Aliases: adenoma of the Parathyroid gland	AKR1C3 CYP27B1 G6PD IDH1 IDH2 KL LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SDHA SMUG1 VCAM1	1594 23583 2539 3417 3418 3958 5290 5291 5293 5294 5728 6389 7412 8644 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:10376	amblyopia Aliases: lazy eye	B3GAT3 CHST3 COL9A2 GALC GMPPB OCRL OGT PIGN PPARGC1A XYLT2	10891 1298 23556 2581 26229 29925 4952 64132 8473 9469	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060284	paroxysmal nocturnal hemoglobinuria	BST1 CD14 CD1D CD38 CD48 CD55 CRLS1 ECI2 FCGR3B FUT1 FUT4 G6PD GPI HACD1 HPRT1 IDH1 KLRK1 PGAP1 PIGA PIGF PIGM PIGT PLAUR PRNP SELL	10455 1604 2215 22914 2523 2526 2539 2821 3251 3417 51604 5277 5281 5329 54675 5621 6402 683 80055 912 9200 929 93183 952 962	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:5378	hemoglobin D disease Aliases: Hb-D disease	ABO FUT1 G6PD NT5E SCD UGT1A1	2523 2539 28 4907 54658 6319	Homo sapiens (human)	DisGeNET
DOID:0050868	hepatocellular adenoma	CYP2E1	1571	Homo sapiens (human)	Alliance of Genome Resources
DOID:3121	gallbladder cancer Aliases: gallbladder Ca gallbladder neoplasm localized malignant gallbladder neoplasm malignant neoplasm of gallbladder malignant tumor of the gallbladder malignant tumour of gallbladder tumor of the gallbladder	ACE ALDH1A3 ANXA5 APRT ARSA CALR CAT CD44 CDH13 CEACAM5 CEACAM6 CEACAM7 CNTN4 CYP17A1 CYP1A1 CYP1B1 CYP27A1 CYP2B6 CYP39A1 CYP7A1 CYP7B1 FKTN GALNT3 GCNT2 GGT1 GPC1 GPC3 GPX3 HK2 HPGDS HPSE HSD17B7 HSPG2 IDH1 ISYNA1 LDHA MPG NT5E OGG1 PC PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKLR PKM PLCE1 PSAP PTEN PTGS2 RBP4 SDC1 SDC2 SMUG1 SPHK1 ST8SIA4 SULT2B1 TYMP	1012 1048 10855 1087 152330 1543 1545 1555 1581 1586 1593 1636 1890 220 2218 23583 2591 2651 2678 2719 27306 2817 2878 308 3099 3339 3417 353 3939 410 4350 4680 4907 4968 5091 51196 51302 51477 51478 5230 5290 5291 5293 5294 5313 5315 5660 5728 5743 5950 6382 6383 6820 7903 811 847 8877 9420 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0112213	multiple congenital anomalies-hypotonia-seizures syndrome 4 Aliases: DEE77 GPIBD19 MCAHS4 developmental and epileptic encephalopathy 77 early infantile epileptic encephalopathy 77 glycosylphosphatidylinositol biosynthesis defect 19	PIGQ	9091	Homo sapiens (human)	Alliance of Genome Resources
DOID:12318	granular corneal dystrophy	CHST6 LCAT	3931 4166	Homo sapiens (human)	DisGeNET
DOID:13619	extrahepatic cholestasis Aliases: extrahepatic biliary Stasis extrahepatic obstructive biliary disease	ALPP ATRNL1 CYP27A1 CYP7A1 CYP8B1 HMGCS2 LGALS1	1581 1582 1593 250 26033 3158 3956	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111238	congenital muscular dystrophy-dystroglycanopathy type A13 Aliases: MDDGA13 Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13	B4GAT1	11041	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:9835	refractive error	B3GAT3 PCCA	26229 5095	Homo sapiens (human)	DisGeNET
DOID:7474	malignant pleural mesothelioma Aliases: malignant mesothelioma of pleura	ACACA ALDH1A3 ALG1 ALPI ALPP APRT ARSA BST1 CD38 CD44 CD74 CEACAM5 CYP1A1 EFNA1 FOLR1 FOLR2 HPSE ICAM1 L1CAM MCAT MSLN MTAP NAGLU PARP1 PFKFB3 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTGS2 RTN4R SMUG1 SPHK1 SPHK2 SRGN TBXAS1 TM7SF2 TPI1	10232 1048 10855 142 1543 1942 220 2348 2350 23583 248 250 27349 31 3383 353 3897 410 4507 4669 5209 5290 5291 5293 5294 5552 5563 56052 56848 5743 65078 683 6916 7108 7167 8877 952 960 972	Homo sapiens (human)	DisGeNET
DOID:0111137	congenital generalized lipodystrophy type 3 Aliases: Berardinelli-Seip congenital lipodystrophy type 3	AGL AGPAT1 AGPAT2 ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 952 9663	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0070195	X-linked chronic granulomatous disease Aliases: CDGX X-linked chronic cytochrome b-negative granulomatous disease	CAT CEL G6PD PARP9 PLB1 SLC27A5	1056 10998 151056 2539 83666 847	Homo sapiens (human)	DisGeNET
DOID:468	intramuscular hemangioma Aliases: Intramuscular Angioma	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 LGALS9 MAG PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHD	10082 10908 2619 29071 3294 3417 3418 3482 3965 4099 5281 5290 5291 5293 5294 5310 5476 57104 5728 6392 811 8809 8813 929	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:3132	porphyria cutanea tarda	CYP1A1 CYP1A2 CYP2E1 HJV HPGDS HPSE KL PTEN SOAT1	10855 148738 1543 1544 1571 27306 5728 6646 9365	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:2596	larynx cancer	ACACA ACAN ACE ACSS2 ADH1B ADH1C ADH5 ADH7 AKR1A1 ALDH2 ALG1 ANXA5 CAT CD14 CD44 CMAS CYP1A1 CYP1B1 CYP2B6 CYP2C19 CYP2E1 DCN FUT4 GAPDH GPX1 HADH HK2 HPGDS HYAL1 INPP4B INPPL1 LGALS1 MTAP NTHL1 OGG1 OGT PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PTEN PTGS2 SHMT1 SIGLEC7 SLC2A3 SMUG1 SULT1E1 UGT1A1 UGT1A7 VCAN VTCN1	10327 125 126 128 131 1462 1543 1545 1555 1557 1571 1634 1636 176 217 23583 23659 2526 2597 27036 27306 2876 2923 3033 308 3099 31 3373 3636 3956 4507 4913 4968 5290 5291 5293 5294 54577 54658 55902 55907 56052 5728 5743 6470 6515 6783 79679 847 8473 8821 929 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2043	hepatitis B Aliases: chronic hepatitis B hepatitis B infection	ABO ACACA ACE ACOD1 ADH1B AKR1A1 AKR1B10 ALDH2 ALDH3A2 ALOX5 ANXA5 APRT ARSA BCKDHB BST2 CALR CAT CD14 CD1D CD209 CD44 CEACAM5 CHI3L1 CHKA CLEC7A CYP17A1 CYP1A2 CYP21A2 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP2R1 CYP3A4 DGAT2 EBP ENO1 ENOSF1 EXT1 FASN FCGR3B FCN2 G6PD GAL3ST1 GALNT10 GAPDH GBA1 GFPT1 GGT1 GLB1 GOLPH3 GPC3 GPI GUSB GYS2 HACD1 HK2 HMMR HPGDS HPSE2 HPSE HS3ST3B1 HS6ST3 HSD17B8 HSPG2 ICAM1 IGF2R IL18R1 IL1RL1 INPPL1 ISYNA1 KLRB1 KLRC1 KLRD1 KLRK1 LGALS3 LGALS4 LGALS9 LIPA LY75 LYPD5 MBL2 MBOAT7 MGAT3 MICA MPI MPPE1 MRC1 NAMPT NANS NCAM1 OGG1 PAPSS1 PARP1 PCYT1A PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLAUR PLCE1 PLPP1 PNPLA3 PRKAA2 PRKCSH PRNP PRSS21 PSAP PSMD10 PTEN PTGES PTGS2 RGN SDC2 SELE SHMT2 SIGLEC1 SIRT2 SLC17A5 SLC35A1 SLC35A2 SOAT1 SPHK1 SRGN TDG TKT TKTL1 TMED5 TNF UAP1 UGT1A1 UGT1A6 UGT1A7 UNG VCAN VTCN1 XYLT2 YDJC	100507436 10135 10327 1048 10559 10682 10855 10942 1116 1119 120227 125 142 1462 150223 1544 1555 1557 1571 1576 1586 1589 1594 1636 2023 2131 217 2194 2215 2220 224 22914 22933 240 2539 2597 2629 26503 266722 2673 2678 2719 2720 27306 28 2821 284348 2923 2990 2998 308 30835 3099 31 3161 3339 3383 3482 353 3636 3820 3821 3824 3958 3960 3965 3988 4065 410 4153 4248 4351 4360 4684 4968 50999 51196 5130 51477 5290 5291 5293 5294 5320 5329 54187 54577 54578 54658 5552 55556 55568 5563 5589 5621 5660 57016 5716 5728 5743 594 60495 6383 6401 64083 64132 64581 6472 65258 6614 6646 6675 684 6996 7086 7124 730249 7355 7374 79143 7923 79679 80339 811 8277 84649 847 8611 8809 8877 9061 9104 912 9173 9200 929 9514 9536 960 9953	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110544	autosomal dominant nonsyndromic deafness 12 Aliases: DFNA12 DFNA8 autosomal dominant deafness 12 autosomal dominant deafness 8	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 DisGeNET Alliance of Genome Resources
DOID:10772	thrombotic thrombocytopenic purpura Aliases: Moschcowitz's syndrome	ABO ACSS2 CD248 CD55 CLEC1B DGKE GPI PIGA PIK3CB PLA2G15 PTGS2	1604 23659 28 2821 51266 5277 5291 55902 57124 5743 8526	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110495	autosomal recessive nonsyndromic deafness 37 Aliases: DFNB37 autosomal recessive deafness 37	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:552	pneumonia Aliases: acute pneumonia	ABO ACADVL ACE ACSS2 AKR1B1 ALDH7A1 ALOX12 ALOX5 ANXA5 APRT ARSA ASAH1 BAAT BST1 CALR CAT CD14 CD248 CD44 CD55 CD74 CEACAM5 CEL CEMIP CHI3L1 CHST7 CLEC1B CLEC6A CLEC7A CLEC9A COLEC11 CRPPA CTSA CYP1A1 CYP1A2 CYP2B6 CYP2E1 DEGS1 EPHX2 FCGR3B FCN2 FDPS FUT2 GLA GPX1 HACD1 HPGDS HSD11B1 ICAM1 IGF2R IL1R1 ISYNA1 ITLN1 KLRB1 LCLAT1 LCT LGALS3 LGALS9 MASP2 MBL2 MCEE MICA MPPE1 MRC1 NAAA NAMPT PARP1 PARP9 PIGW PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKD1 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G5 PLA2G6 PLD1 PLD2 PNP PTGDS PTGES PTGS1 PTGS2 REG3G RENBP SDC1 SDC2 SDC4 SELL SELP SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SGPL1 SIGLEC8 SLC17A5 SLC27A5 SLC2A10 SLC35A1 SLC5A1 SMC3 SMPD1 SMPD2 SMUG1 SPHK2 ST8SIA4 STS SULF1 TM7SF2 UGCG VCAM1 VCAN	100507436 10135 1048 10559 1056 10747 10998 1116 130120 142 1462 1543 1544 1555 1571 1604 1636 200576 2053 2215 2220 2224 231 23213 23583 23659 239 240 2524 253558 26503 27163 2717 27181 27306 28 283420 284098 2876 308 3290 3383 3482 353 3554 37 3820 3938 3958 3965 410 412 4153 427 4360 4860 501 51266 51477 5290 5291 5293 5294 5310 5319 5320 5321 5322 5337 5338 5476 55600 55902 56548 56848 570 57124 57214 5730 5742 5743 5973 6382 6383 6385 6402 6403 6440 6441 64581 6523 65258 653509 6609 6610 683 7108 729238 729920 7357 7412 78989 7903 81031 811 83666 8398 84693 847 8482 8560 8879 9126 9200 929 93978 9536 960 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:12400	kleptomania Aliases: Pathological stealing	APRT COMT PAFAH1B1 PLCD1 PLCG1	1312 353 5048 5333 5335	Homo sapiens (human)	DisGeNET
DOID:0090089	hypogonadotropic hypogonadism 10 with or without anosmia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET

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