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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 **1701 - 1725** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0080301	atypical hemolytic-uremic syndrome	BAAT DGKE G6PD GPI GRHPR MASP1 PIGA	2539 2821 5277 5648 570 8526 9380	Homo sapiens (human)
DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria Aliases: bilateral temporooccipital polymicrogyria	FIG4	9896	Homo sapiens (human)
DOID:1788	peritoneal mesothelioma Aliases: Advanced malignant Mesothelioma of Peritoneum advanced malignant peritoneal mesothelioma malignant mesothelioma of peritoneum	CEACAM5 CEACAM7 FUT4 HAS1 PIK3CA PTEN PTGS2 SDC1 SMUG1	1048 1087 23583 2526 3036 5290 5728 5743 6382	Homo sapiens (human)
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)
DOID:3168	squamous cell neoplasm Aliases: Epidermoid cell tumor squamous cell tumor	ADH4 ADH5 ADH7 AKR1A1 CEACAM5 CEACAM7 CHPT1 CYP1B1 CYP2E1 CYP2J2 DHDDS ENO2 GPX1 HPGDS KLRK1 LTA4H LYPD5 MICA PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLCE1 PTEN PTGS2	100507436 10327 1048 1087 127 128 131 1545 1571 1573 2026 22914 27306 284348 2876 4048 51196 5130 5290 5291 5293 5294 56994 5728 5743 79947	Homo sapiens (human)
DOID:0110239	cataract 12 multiple types Aliases: CTRCT12	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:0060858	hypotonia-cystinuria syndrome Aliases: cystinuria with mitochondrial disease	SLC3A1	6519	Homo sapiens (human)
DOID:0090090	hypogonadotropic hypogonadism 19 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)
DOID:3683	lung benign neoplasm Aliases: tumor of the lung	ABO ACACA ACAT1 ACE ACHE ACLY ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSM1 ACYP2 ADH1B ADH1C ADH5 AKR1A1 AKR1B10 AKR1C1 AKR1C3 ALDH1A3 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALG1 ALOX12B ALPI ALPP AMACR AMY1A AMY1B AMY1C AMY2A AMY2B ANXA4 ANXA5 APRT ARSA ARSB ARSF ASAH1 ATP6AP2 ATRNL1 B3GAT1 B4GALT1 BPHL BST1 CACNA2D2 CALR CANX CAT CBR1 CD109 CD14 CD1D CD22 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS6 CHAT CHI3L1 CHKA CHKB CHPT1 CHST15 CHST7 CLEC10A CLEC1B CNTN1 COG8 COLGALT2 COMT CPT1C CRLS1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP3A5 CYP4F3 DCN DDOST DGKH DHCR24 DHDDS DHDH DLD EBP EFNA1 ELOVL6 ENO1 ENO2 ENO3 ENPP1 ENPP2 EPHX2 ERLEC1 EXTL3 FADS1 FADS2 FASN FBP1 FCN2 FDFT1 FOLR2 FUT10 FUT11 FUT1 FUT2 FUT3 FUT4 FUT5 FUT8 FUT9 G6PD GALC GALNS GALNT13 GALNT3 GAPDH GBE1 GCK GCNT1 GGT1 GGT5 GLB1 GLCE GLDC GLUL GOLPH3 GPC3 GPC5 GPI GPX1 GPX2 GPX3 HADHA HAS2 HK1 HK2 HKDC1 HMMR HPGDS HPRT1 HPSE HS3ST2 HSD11B2 HSD17B1 HSD17B6 HYAL1 HYAL2 ICAM1 ICAM2 IDH1 IDH2 IDS IDUA IGF2R IL18R1 IL1RL1 IMPA1 INPP4B INPP5D ISYNA1 ITPKB KL KLRB1 KLRK1 L1CAM LDHA LDHB LGALS1 LGALS3 LGALS8 LGALS9 LPCAT1 LPIN1 LPL LY6K LYPD5 MBD4 MBL2 MCAT ME1 ME2 MGAT5 MGLL MICA MMUT MOGS MPG MRC1 MSLN MTAP MTMR3 MUTYH NCAM1 NEIL2 NEU1 NT5E NTHL1 OGG1 OPCML PAFAH1B1 PARG PARP1 PC PCK2 PCYT1A PFKFB3 PFKFB4 PGAM1 PGD PGK1 PGP PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKLR PKM PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLB1 PLCD1 PLCE1 PLCG1 PLCH1 PLOD3 PLPP5 PNPLA2 POFUT1 PRG2 PRKAA2 PRNP PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 QTRT1 RECK REG1B REG3G RENBP RGN RPN2 SCD SDC1 SDC2 SDHC SELE SFTPA1 SFTPA2 SFTPC SFTPD SGMS1 SHMT1 SHMT2 SIRT2 SIRT4 SIRT6 SLC26A2 SLC2A10 SLC2A3 SLC2A5 SLC33A1 SLC5A1 SMC3 SMUG1 SOAT1 SPHK2 SQLE SRGN ST6GAL1 ST8SIA1 ST8SIA4 STS SULF1 SULF2 SULT1E1 TBXAS1 THEM4 TIGAR TM7SF2 TMED6 TNKS2 TNKS TPI1 TPST1 TREH TUSC3 TYMP UGDH UGT1A10 UGT1A1 UGT1A6 UGT1A7 UGT2B17 UGT8 ULBP1 UMPS UNG VCAM1 VCAN VTCN1 XXYLT1	100507436 1012 10159 10232 10327 10462 1048 10682 10690 10855 1087 1103 1116 11181 1119 1120 11332 11343 114805 116285 117145 125 126 126129 1272 128 130120 1312 135228 142 1462 146456 151056 152002 1543 1544 1545 1555 1557 1559 1571 1576 1577 1586 1588 1589 1591 1593 1594 1604 160851 1634 1636 1645 1650 170384 1718 1738 1836 1890 1942 2023 2026 2027 2053 2137 217 218 2180 2181 2182 2194 220 2203 2220 2222 226 2262 22914 22933 23007 23127 23175 23205 23213 23409 2350 23509 23583 23600 242 248 250 2523 2524 2525 2526 2527 252969 2530 253782 2539 2581 2588 2591 259230 2597 26033 26035 2632 2645 2650 2678 2683 2687 27087 2719 2720 27248 27294 27306 2731 27349 2752 276 277 278 279 28 280 2821 283871 284348 2876 2877 2878 3030 3037 307 308 3098 3099 31 3161 3251 3291 3292 3373 3383 3384 3417 3418 3423 3425 3482 353 3612 3635 3707 38 3820 3897 3939 3945 3956 3958 3964 3965 3992 4023 4051 410 411 412 4153 416 4199 4200 4249 427 43 4350 4360 4507 4594 4595 4680 4684 47 4758 4907 4913 4968 4978 501 5048 5091 5106 51196 51266 5130 51363 51477 51548 5167 5168 51703 5209 5210 5223 5226 5230 5289 5290 5291 5293 5294 5310 5313 5315 5319 5320 5321 5329 5333 5335 54575 54577 54578 54658 54675 54742 5552 5553 5563 55959 56052 5621 56548 56848 56994 57016 57103 57104 5728 5730 5740 5742 5743 5968 5973 6185 6319 6382 6383 6391 6401 64083 6440 6441 6470 6472 6480 6489 6515 6518 6523 653509 6646 670 6713 6783 683 6916 7108 7167 729238 7358 7367 7368 7372 7374 7412 7841 7903 79071 79679 79888 7991 79947 80201 80329 80351 81031 811 81890 821 8398 8399 8434 84342 84513 8460 847 84750 8505 8630 8644 8658 8692 873 8809 8821 8897 8930 8985 9104 912 9126 9173 9197 9254 929 933 9365 9415 945 952 9536 960 972 98 9956	Homo sapiens (human)
DOID:0060067	Pearson syndrome Aliases: Pearson Marrow-Pancreas Syndrome	ACADL ACADVL CHPT1 CPT1A CPT1B CPT2 LPIN1	1374 1375 1376 23175 33 37 56994	Homo sapiens (human)
DOID:1561	cognitive disorder Aliases: cognitive disease	ACHE CD14 CD38 COMT IGF2R SMUG1	1312 23583 3482 43 929 952	Homo sapiens (human)
DOID:0110175	Charcot-Marie-Tooth disease axonal type 2O Aliases: Charcot-Marie-Tooth neuropathy axonal type 2O autosomal dominant Charcot-Marie-Tooth disease type 2O autosomal dominant axonal Charcot-Marie-Tooth disease type 2O	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:0060468	Holt-Oram syndrome Aliases: atrio-digital syndrome atriodigital dysplasia heart-hand syndrome	ENOSF1 IL18R1 OGG1 PIK3CA	4968 5290 55556 8809	Homo sapiens (human)
DOID:0060867	macrocephaly-autism syndrome Aliases: macrocephaly-intellectual disability-autism syndrome	PTEN	5728	Homo sapiens (human)
DOID:4776	rapidly progressive glomerulonephritis	ABO ACE CD44 DCN FCGR3B ICAM1 MRC1 VCAM1	1634 1636 2215 28 3383 4360 7412 960	Homo sapiens (human)
DOID:0111527	spinal muscular atrophy with progressive myoclonic epilepsy Aliases: Jankovic-Rivera syndrome SMA-PME SMAPME hereditary myoclonus-progressive distal muscular atrophy syndrome	ASAH1	427	Homo sapiens (human)
DOID:6740	cervix small cell carcinoma Aliases: small cell carcinoma of the Cervix Uteri	CHGA	1113	Homo sapiens (human)
DOID:0111338	isolated elevated serum creatine phosphokinase levels Aliases: elevated serum CPK idiopathic hyperCKemia isolated hyperCKemia	ACADM ACADVL AGL ALG14 ALG2 B3GALNT2 B4GALT1 B4GAT1 CHKB COG7 COG8 CPT1A CPT2 CRPPA DAG1 DOLK DPAGT1 DPM1 DPM2 DPM3 ENO3 FKRP FKTN GAA GFPT1 GMPPB GNE HSPG2 INPP5K LARGE1 LDHA LPIN1 OCRL PGAM2 PIGY PKD1 PLA2G6 PNPLA2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PYGM SDHA SUCLA2 SYNJ1 TMEM165	10020 10585 11041 1120 1374 1376 148789 1605 178 1798 199857 2027 2218 22845 23175 2548 2673 2683 29925 29954 3339 34 37 3939 4952 51763 5224 5310 54344 55624 55858 56983 57104 5837 6389 729920 79147 8398 84197 84342 84892 84992 85365 8803 8813 8818 8867 91949 9215	Homo sapiens (human)
DOID:0110555	autosomal dominant nonsyndromic deafness 25 Aliases: DFNA25 autosomal dominant deafness 25	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:6812	childhood pilocytic astrocytoma Aliases: pediatric Pilocytic astrocytoma	IDH1 IDH2 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	142 3417 3418 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:1289	neurodegenerative disease Aliases: degenerative disease	ACADM ACE ACHE ACO2 ACOX1 ACSBG1 ADPRS AGPAT3 AKR1A1 ALDH2 ALOX12 ALOX5 ALPP ARSA ASAH1 ATP6AP2 ATRNL1 B3GAT1 CAT CCDC115 CD14 CD33 CD38 CHAT CHGA CHI3L1 CHIT1 CLEC10A CLEC16A CLN5 CNTN2 COLEC11 COMT CYP19A1 CYP27A1 CYP2B6 CYP2U1 CYP46A1 CYP7B1 DAG1 DEGS1 DEGS2 DHCR24 DLST ELOVL4 ENO2 EPM2A FCN2 FDPS FIG4 FOLR2 G6PD GAA GAD1 GALC GAPDH GBA1 GDPD5 GLB1 GLO1 GLUL GM2A GPNMB GPX3 GUSB HEXA HEXB HIBCH HK1 HK2 HPGDS HPSE ICAM1 IDH2 INPPL1 KL L2HGDH LGALS3 LIPC LPL MANEAL MGLL MRC1 MTM1 MTMR2 MUTYH MYORG NAGLU NAGPA NAMPT NDUFAB1 OARD1 OGA OGDH OGG1 OGT PARP10 PARP1 PDIA3 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G1B PLA2G2A PLA2G4A PLA2G5 PLA2G6 PLB1 PLCG2 PNP PNPLA6 PNPLA7 PPT1 PRKAA2 PRKAG2 PRKAG3 PRNP PTEN PTGES3 PTGES PTGS2 QPRT RENBP RPE SARM1 SCP2 SDHA SFTPA1 SGPL1 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC33A1 SMUG1 SPHK2 SPTLC1 SPTLC3 STS SUCLA2 SYNJ1 TIGAR TKT TMED9 TPI1 UNG VCAN	10135 10159 10327 10457 10462 10558 10724 10728 10855 10858 10908 1103 1113 1116 1118 11343 113612 1203 123099 1312 142 1462 149175 151056 1555 1588 1593 1605 1636 1718 1743 2026 217 221443 2220 2224 22933 23098 23205 23274 23475 2350 23583 239 240 250 2539 2548 2571 2581 2597 26033 26275 2629 26503 27036 27087 2720 27306 2739 2752 2760 283871 2878 2923 2990 3073 3074 3098 3099 3383 34 3418 3636 375775 3958 3990 4023 410 412 427 43 4360 4534 4595 4669 4706 4860 4967 4968 50 51 51172 51422 51548 5290 5291 5293 5294 5311 5319 5320 5321 5322 5336 53632 54732 54936 55304 5538 5563 5621 56848 56894 57103 5728 5743 57462 5973 6120 6342 6389 6448 6476 653509 6785 6900 7086 7167 7374 78989 7957 79944 81544 8398 84317 847 8473 84875 8560 8803 8867 8879 8898 9197 929 9365 9420 945 952 9536 9896	Homo sapiens (human)
DOID:6869	parasagittal meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)
DOID:0060592	B-cell adult acute lymphocytic leukemia Aliases: B-cell adult acute lymphocytic leukaemia adult B acute lymphoblastic leukaemia adult B acute lymphoblastic leukemia adult B-lymphoblastic leukaemia adult B-lymphoblastic leukemia adult b-cell acute lymphoblastic leukaemia adult b-cell acute lymphoblastic leukemia adult b-cell lymphocytic leukaemia adult b-cell lymphocytic leukemia	CD22 FCN2 FUT4 MBL2 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	2220 2526 4153 5290 5291 5293 5294 5728 933	Homo sapiens (human)
DOID:2751	glycogen storage disease VIII Aliases: Glycogen storage disease 8 glycogen storage disease type VIII glycogenosis type VIII hepatic glycogen phosphorylase kinase deficiency	G6PC1 GGT1	2538 2678	Homo sapiens (human)
DOID:8632	Kaposi's sarcoma Aliases: Kaposi sarcoma Kaposi's sarcoma of Heart Kaposi's sarcoma of anus Kaposi's sarcoma of central nervous system Kaposi's sarcoma of conjunctiva Kaposi's sarcoma of cornea Kaposi's sarcoma of esophagus Kaposi's sarcoma of gastrointestinal sites Kaposi's sarcoma of lung Kaposi's sarcoma of lymph nodes Kaposi's sarcoma of palate Kaposi's sarcoma of penis Kaposi's sarcoma of skin Kaposi's sarcoma of soft tissue Kaposi's sarcoma of soft tissues Kaposi's sarcoma of the CNS Kaposi's sarcoma of the gallbladder Kaposi's sarcoma of the prostate Kaposi's sarcoma, lung Kaposi's sarcoma, skin anal Kaposi's sarcoma cardiac Kaposi's sarcoma central nervous system Kaposi's sarcoma conjunctival Kaposi's sarcoma corneal Kaposi's sarcoma cutaneous Kaposi's sarcoma esophageal Kaposi's sarcoma gallbladder Kaposi's sarcoma gastric Kaposi's sarcoma intestinal Kaposi's sarcoma lymph node Kaposi's sarcoma lymphadenopathic Kaposi's sarcoma palate Kaposi's sarcoma penis Kaposi's sarcoma prostate Kaposi's sarcoma pulmonary Kaposi's sarcoma soft tissue Kaposi's sarcoma	BCKDHB CD1D CERK DCN IGF2R KLRK1 LGALS1 LGALS3 MLYCD PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PTGS2 RENBP SDC1 SELE SEMA7A SIGLEC1 SIRT6 SPHK2 VCAM1	1634 22914 23417 3482 3956 3958 51548 5286 5290 5291 5293 5294 5335 56848 5743 594 5973 6382 6401 64781 6614 7412 8482 912	Homo sapiens (human)

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