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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 **4926 - 4950** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:6868	mediastinal malignant lymphoma Aliases: Lymphoma of mediastinum	CMAS SMUG1	23583 55907	Homo sapiens (human)
DOID:0080488	mucolipidosis	GNPTAB NEU1	4758 79158	Homo sapiens (human)
DOID:4451	renal carcinoma Aliases: carcinoma of kidney kidney carcinoma	ABO ACACA ACADM ACAT1 ACAT2 ACE ACHE ACLY ACO2 ACOT7 ACSL1 ACSS1 ACSS2 ACYP2 ADH7 AKR1A1 AKR1C3 ALDH3B1 ALDH6A1 ALDH9A1 ALDOA ALDOB ALOX12 ALOX12B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ATRNL1 B3GALT6 B3GAT1 B4GALNT1 BST2 CA4 CALR CAT CD14 CD1D CD209 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHI3L1 CHI3L2 CHPT1 CHSY1 CLEC1B CMAS COMT CRPPA CYP11B1 CYP11B2 CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN DHDDS DLD DLST EBP ECHS1 EFNA1 ENO1 ENO2 ENPP2 ENPP3 FASN FBP1 FCGR3B FH FPGT FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GAPDH GAS1 GGT1 GLO1 GNE GNPTAB GOLPH3 GPC3 GPI GPNMB GPX1 GPX3 HAO2 HAS1 HK2 HMMR HPGDS HPSE HSD11B2 HSD17B6 ICAM1 IDH1 IDUA IL18R1 IMPA2 INPP4B KDSR KHK KL KLRC1 L1CAM L2HGDH LDHA LDHB LDHC LDHD LGALS1 LGALS3 LGALS8 LGALS9 LIPA LMAN2L LPCAT1 LY6G6D LYPD5 MAN1C1 MCAT MDH2 ME1 MGAT5 MGAT5B MICA MMUT MRC1 MTAP NAMPT NDST1 NEU1 NEU3 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARP1 PDHB PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKD1 PKM PLA2G15 PLA2R1 PLAUR PLD1 PLD2 POGLUT3 PPAT PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGS1 PTGS2 RGN SCD SDC3 SDHA SDHB SDHC SDHD SELE SELP SIRT2 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35G2 SMUG1 SOAT1 SORD SPHK1 SPTLC1 ST3GAL2 ST3GAL4 ST8SIA4 STS SULF2 TIGAR TM7SF2 TMED3 TMED9 TUSC3 TYMP UGT1A1 UGT2B7 VCAM1 VCAN VTCN1 XPNPEP2	10020 100507436 1012 10135 10327 10457 1048 10558 10682 10825 10855 1087 1116 11164 1117 11332 120227 126792 131 1312 142 143888 1462 146664 1543 1545 1577 1584 1585 1586 1591 1594 1605 1634 1636 170384 1738 1743 1890 1892 1942 197257 2023 2026 2180 2194 2203 221 2215 223 226 2271 22856 229 22925 22933 23423 23583 23600 23659 23761 239 240 242 248 250 2525 2526 2531 2538 2539 2571 2583 2590 2591 2597 26033 2619 2678 27087 2719 27306 27349 2739 28 2821 284348 2876 2878 2923 3036 307 308 30835 3099 31 3161 3291 3340 3383 34 3417 3425 353 3613 3795 38 3821 3897 39 3939 3945 3948 3956 3958 3964 3965 3988 412 4191 4199 4249 43 4329 4360 4507 4594 4680 47 4758 4907 4968 50 5048 51179 51266 51548 5162 5168 5169 5230 5290 5291 5293 5294 5310 5315 5329 5337 5338 54658 5471 54732 5563 55902 55907 55959 5621 5652 56994 57103 57134 5716 57214 5728 5742 5743 58530 6319 6389 6390 6391 6392 6401 6403 64083 6483 6484 6514 6515 6517 6518 6646 6652 684 7108 729920 7364 7412 7512 762 7903 79158 79679 79888 7991 79944 79947 80723 811 81562 84532 847 8473 8630 8644 8790 8809 8821 8877 9104 912 929 9365 9514 952 960 9672 972 98	Homo sapiens (human)
DOID:4022	ureterocele	PIGP PIGQ	51227 9091	Homo sapiens (human)
DOID:1123	spondyloarthropathy Aliases: spondarthropathy spondylarthrosis	ACAN ACE ALDOA CD14 CD74 CYP17A1 ENO1 ENPP1 FCGR3B KL KLRB1 KLRK1 MBL2 MICA PTGS2 SFTPA2 SMUG1 SOAT1 TNF VCAN	100507436 1462 1586 1636 176 2023 2215 226 22914 23583 3820 4153 5167 5743 6646 7124 729238 929 9365 972	Homo sapiens (human)
DOID:0080349	developmental and epileptic encephalopathy 39 Aliases: AGC1 deficiency early infantile epileptic encephalopathy 39 epileptic encephalopathy with global cerebral demyelination	ACAN SLC25A12	176 8604	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:4916	pituitary carcinoma Aliases: carcinoma of the Pituitary gland	CD44 CDH13 HSD11B2 IDH1 IDH2 LDHA PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTEN PTGS2 SCP2 SMUG1 STS TBXAS1	1012 23583 3291 3417 3418 3939 412 5290 5291 5293 5294 5563 5728 5743 6342 6916 960	Homo sapiens (human)
DOID:2801	nonspecific interstitial pneumonia Aliases: NSIP	SFTPC	6440	Homo sapiens (human)
DOID:0110160	Charcot-Marie-Tooth disease axonal type 2T Aliases: AR-CMT2T CMT2T Charcot-Marie-Tooth neuropathy type 2T autosomal recessive axonal Charcot-Marie-Tooth disease type 2T	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:11650	bronchopulmonary dysplasia Aliases: Bronchopulmonary dysplasia of newborn Chronic lung disease of prematurity Neonatal chronic lung disease Perinatal bronchopulmonary dysplasia Respiratory insufficiency neonatal chronic respiratory disease	CAT CD209 CHI3L1 DAG1 MBL2 SFTPA1 SFTPD TNF TP53	1116 1605 30835 4153 6441 653509 7124 7157 847	Homo sapiens (human)
DOID:5082	liver cirrhosis Aliases: Cirrhosis cirrhosis of liver	ABO ACAT1 ACE ACHE ADH1A ADH1B ADH1C ADH4 ADH5 ADIPOQ AGA AGL AKR1A1 AKR1B10 AKR1B1 ALDH1B1 ALDH2 ALDH7A1 ALDOB ALOX5 ALPI ALPP ANXA5 APRT ARSH ATRNL1 CALR CAT CBR1 CD14 CD1D CD248 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM7 CERS6 CHI3L1 CHIT1 CHST3 CLEC7A CMAS CPT1A CPT2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP2R1 CYP3A4 CYP3A7 CYP4A11 CYP4F3 DCN DDOST DGKE DHCR7 DHDDS DLAT ENO1 ENPP2 EXTL3 FADS1 FCGR3B FCN2 FDFT1 FMOD FUT1 GALT GBA1 GCDH GCK GCLC GGT1 GLB1 GLO1 GLT8D2 GLUL GNPAT GOLPH3 GPAA1 GPC3 GPD1 GPNMB GPX1 HACD1 HAS2 HEXB HK2 HMGCS2 HPGDS HPSE HSD11B2 HSPG2 ICAM1 IDH1 IGF2 IGF2R IL1R1 INPP5D INPP5E ISYNA1 KL LALBA LDHA LGALS1 LGALS3 LGALS8 LGALS9 LIPA MASP1 MBL2 MBOAT7 MICA MLYCD MPI MSLN MTAP NAAA NAGLU NAMPT NANS NCAM1 NCAN NDST1 NT5E OGA OGT PARP1 PC PDIA3 PEMT PHKG2 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLB1 PMM2 PNPLA3 PNPLA6 PRKAA2 PSMD10 PTEN PTGDS PTGIS PTGS2 RBP4 RENBP RGN SCD SDC1 SDC2 SDC4 SFTPA1 SIGLEC1 SIRT2 SLC17A5 SLC27A5 SLC2A4 SLC33A1 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 ST6GAL1 ST8SIA4 STS SULF1 TALDO1 TBXAS1 TLR4 TM7SF2 TNF TYMP UGT1A1 UGT1A7 UMOD VCAM1	100507436 1012 10135 10232 10327 10400 10457 1048 10724 10855 1087 10908 10998 1116 1118 120227 124 125 126 127 128 1374 1376 142 1463 151056 1543 1544 1551 1555 1557 1571 1576 1579 1586 1588 1593 1594 1634 1636 1650 1717 1737 175 178 1890 2023 2137 217 219 2215 2220 2222 229 22933 231 23213 2331 23417 23583 240 248 250 2523 253782 2592 26033 2629 2639 2645 26503 2678 27163 2719 2720 2729 27306 2739 2752 28 2819 2876 2923 3037 3074 308 3099 3158 3291 3339 3340 3383 3417 347527 3481 3482 353 3554 3635 38 3906 3939 3956 3958 3964 3965 3988 3992 4051 412 4153 43 4351 4507 4669 4684 4907 501 5091 51477 5168 5261 5290 5291 5293 5294 5315 5319 5320 5321 5329 5373 54187 54577 54658 5563 55907 5648 56623 56848 57016 57124 5716 5728 5730 5740 5743 5950 5973 6319 6382 6383 6385 64083 64581 6480 6517 653509 6609 6614 6646 6888 6916 7099 7108 7124 7369 7412 7903 79143 79947 80339 811 83468 8398 8443 847 8473 8526 873 8733 8877 9104 912 9197 9200 929 9365 9370 9469 952 960 972	Homo sapiens (human)
DOID:0110045	Alzheimer's disease 12 Aliases: AD12 Alzheimer disease 12 Alzheimer disease familial 12	ABO ACACA ACADVL ACAT1 ACE ACHE ACO1 ACO2 ACOT7 ACOT8 ACSL6 ACSS2 AGPS AGRN AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH7A1 ALOX12 ALOX5 ALPI ALPP ANXA5 APRT ARSA ASAH1 ATRNL1 B3GALT4 B3GAT1 BCAN BCKDHB BST1 CALR CAT CD14 CD177 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CFC1 CH25H CHAT CHI3L1 CHIT1 CLC CLEC16A CLEC1B CLEC7A CLN5 CNTN1 CNTN2 COG5 COLGALT2 COMT CPO CPT1A CRYL1 CS CSPG4 CTNS CYP11A1 CYP17A1 CYP19A1 CYP1A2 CYP27A1 CYP2B6 CYP2C9 CYP2J2 CYP3A4 CYP46A1 CYP7B1 CYP8B1 DCN DEGS1 DGKQ DHCR24 DHRS11 DLD DLST DPEP2 EDEM2 EFNA5 ENO1 ENO2 ENPP2 EPHX2 FASN FBXO2 FCGR3B FCN2 FDPS FOLR2 G6PD GAD1 GAD2 GALNS GAPDH GAPDHS GBA1 GFRA1 GGT1 GLB1 GLO1 GLUL GNE GNPAT GNPDA2 GOLPH3 GPAA1 GPC1 GPC6 GPI GPNMB GPX1 GTDC1 GUSB HAS1 HAS3 HK1 HMGCS2 HPGDS HPSE2 HPSE HS3ST1 HSD11B1 HSD17B1 HSD17B4 HSD17B6 HSD17B7 HSPG2 HYI ICAM1 IDH1 IDH2 IGF2R IL1R1 IL1RAP IL1RL1 IMPA1 INPP5D INPP5K INPPL1 ITPKB KL KLRC1 L1CAM LCAT LCT LDHA LGALS3 LGALS4 LGALS9 LIPA LIPC LIPG LPL LTC4S LYZ LYZL4 MAG MASP1 MBL2 MDH2 MELTF MGAT3 MGLL MICA MMUT MOGAT3 MPG MPI MRC1 NAAA NAMPT NANS NCAM1 NEU1 NPL NT5E OGA OGDH OGDHL OGG1 OGT OLR1 PAFAH1B2 PARP1 PC PCK1 PCYT1A PCYT1B PEMT PFKFB3 PGD PGP PI4KA PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCG2 PLD1 PLD2 PLD3 PLPP4 PMM2 PNP PNPLA2 PNPLA7 PPT1 PRG2 PRKAA2 PRNP PTDSS1 PTEN PTGDS PTGES2 PTGES3 PTGES PTGS1 PTGS2 RENBP RGN RTN4R SCD5 SCD SCP2 SDC2 SDC3 SDCBP2 SFTPA1 SFTPC SGMS2 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35A2 SMPD2 SMPD3 SMUG1 SOAT1 SPHK1 SPHK2 SQLE ST3GAL4 ST6GAL1 ST8SIA1 STS SUCLA2 SUCLG2 SYNJ1 TIGAR TKT TM7SF2 TMED9 TPI1 UGCG UGT1A1 UMOD UNG VCAM1 VCAN	10005 10020 100507436 10082 1012 10135 10327 10400 10457 10466 1048 10559 10724 10728 10855 10858 1103 1109 1116 1118 11332 11343 1178 1203 1272 130749 1312 131375 132789 1374 142 1431 1462 1464 1497 151056 1544 1555 1559 1573 1576 1582 1583 1586 1588 1593 1604 1609 1634 1636 1646 166929 1718 1738 1743 1946 196051 200576 2023 2026 2053 217 2194 2215 2220 2224 22933 23127 23236 23274 23305 2350 23583 23646 23659 239 240 248 250 2539 2571 2572 2588 2597 26033 26232 2629 26330 2674 2678 27036 27087 27111 27163 2720 27306 2739 2752 28 2817 2821 283871 2876 2990 3036 3038 308 30835 3098 31 3158 3290 3292 3295 3339 3383 3417 3418 346606 3482 353 3554 3556 3612 3635 3636 37 3707 375775 375790 38 3821 3897 3931 3938 3939 3958 3960 3965 3988 3990 4023 4056 4069 4099 410 412 4153 4191 4241 4248 427 43 4350 4351 4360 4594 4684 4758 48 4860 4907 4967 4968 4973 50 501 5049 5091 5105 51084 51266 5130 51478 51548 5168 51763 5209 5226 5289 5290 5291 5293 5294 5297 5315 5319 5320 5321 5329 5336 5337 5338 5373 54187 54658 54732 5538 55512 5553 5563 55741 55753 55902 55997 5621 5648 56848 57103 57104 57126 5728 5730 5742 5743 594 5973 60495 6319 6342 63827 6383 64083 64174 6440 6448 64581 6476 6480 6484 6489 65078 6515 6517 653509 6610 6646 6713 683 6900 7086 7108 7167 7355 7357 7369 7374 7412 79154 7941 79712 79966 80142 80896 811 81888 8398 8443 847 8473 8540 8560 8630 8705 8733 8801 8803 8867 8877 9023 9104 9173 9197 929 9365 9388 9420 945 9468 952 9536 960 9672 972 9791 9957	Homo sapiens (human)
DOID:0111260	phosphoribosylpyrophosphate synthetase superactivity Aliases: PRPP synthetase superactivity PRPS1 superactivity	PNP PRPS1	4860 5631	Homo sapiens (human)
DOID:0081183	autosomal recessive intellectual developmental disorder 7	TUSC3	7991	Homo sapiens (human)
DOID:456	ascariasis Aliases: Ascariasis - roundworm	CAT CHIT1 CYP1A1 SIGLEC1	1118 1543 6614 847	Homo sapiens (human)
DOID:0111422	familial lipase maturation factor 1 deficiency Aliases: LPL and HL deficiency LPL and HTGL deficiency combined lipase deficiency familial LMF1 deficiency lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency	LPL	4023	Homo sapiens (human)
DOID:0060849	osteoporosis-pseudoglioma syndrome Aliases: OPPG ocular form of osteogenesis imperfecta	INPPL1 LRP5	3636 4041	Homo sapiens (human)
DOID:0110468	autosomal recessive nonsyndromic deafness 13 Aliases: DFNB13 autosomal recessive deafness 13	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:7134	esophagus small cell carcinoma Aliases: Oat cell carcinoma of esophagus Oat cell carcinoma of oesophagus oesophagus small cell carcinoma	PARP1 PTEN	142 5728	Homo sapiens (human)
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	B4GALT7	11285	Homo sapiens (human)
DOID:0110961	atypical Gaucher's disease due to saposin c deficiency	GBA1 PSAP	2629 5660	Homo sapiens (human)
DOID:355	mast-cell sarcoma	CAT CYP24A1	1591 847	Homo sapiens (human)
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	CYP51A1 G6PD GALE GALK1 GALM GALT GP2 LGALS1 UGP2 UGT8	130589 1595 2539 2582 2584 2592 2813 3956 7360 7368	Homo sapiens (human)
DOID:2449	acromegaly	ACE ALPP ATRNL1 CALR CYP11B2 DGCR2 HSD11B1 KL LGALS3 LPL NAMPT RENBP	10135 1585 1636 250 26033 3290 3958 4023 5973 811 9365 9993	Homo sapiens (human)

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