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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4651 - 4675** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:3717	gastric adenocarcinoma Aliases: adenocarcinoma of stomach stomach adenocarcinoma	A4GALT A4GNT ACOT1 ANXA7 CAT CD44 CEACAM5 CEACAM6 CFC1 CYP1A1 CYP2E1 ENO1 FASN GAD1 GALNT18 GALNT2 GALNTL5 GPX1 HPGDS LGALS3 MAPK14 MGAT5 MSLN MTAP PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLCE1 PLCG1 PRKAA2 PTEN PTGS2 SDHA SMUG1 SULT1E1 TP53 VTCN1	10232 1048 1432 1543 1571 168391 2023 2194 23583 2571 2590 27306 2876 310 374378 3958 4249 4507 4680 51146 51196 5290 5291 5293 5294 5320 5335 53947 5563 55997 5728 5743 6389 641371 6783 7157 79679 847 960	Homo sapiens (human)
DOID:0090047	paroxysmal nonkinesigenic dyskinesia 2	ST3GAL5	8869	Homo sapiens (human)
DOID:2766	ethmoid sinus adenocarcinoma Aliases: adenocarcinoma of the ethmoid sinus	PIK3CA	5290	Homo sapiens (human)
DOID:0050877	pancreatic agenesis Aliases: Agenesis of the dorsal pancreas partial pancreatic agenesis	PDX1	3651	Homo sapiens (human)
DOID:0050548	hereditary sensory neuropathy Aliases: familial dysautonomia, type II hereditary sensory and autonomic neuropathy	AGXT CYP4F3 GAS1 PKLR SPTLC1 SPTLC2	10558 189 2619 4051 5313 9517	Homo sapiens (human)
DOID:5679	retinal disease	ACE AGXT AKR1B1 ALDH2 ALDH3A2 ALOX12 B3GAT1 CALR CAT CD44 CD74 CEL CEPT1 CHAT CHI3L1 CHPT1 CTNS CYP1B1 CYP2C19 CYP2C9 DCN DDOST ENPP1 GAD2 GCK GLO1 GLUL GM2A GNPTAB GUSB HADHA HEXB HPSE ICAM1 IDUA ISYNA1 KL LGALS1 NEU1 NYX PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PLA2G6 PLA2G7 PLCB4 PLD2 PNPLA2 POMGNT1 PTGS2 RPE SELE SIRT4 SPHK2 ST3GAL4 STS SULT1E1 TM7SF2 VCAM1	10390 1056 10855 1103 1116 142 1497 1545 1557 1559 1634 1636 1650 189 217 224 231 23409 23761 239 2572 2645 27087 2739 2752 2760 2990 3030 3074 3383 3425 3956 412 4758 51477 5167 5290 5291 5293 5294 5332 5338 55624 56848 56994 57104 5743 60506 6120 6401 6484 6783 7108 7412 79158 7941 811 8398 847 9365 960 972	Homo sapiens (human)
DOID:6227	articular cartilage disease	IL1R1	3554	Homo sapiens (human)
DOID:11459	pseudotumor cerebri Aliases: benign intracranial hypertension idiopathic intracranial hypertension	ENO2 GLB1 L1CAM PARP4 PIK3CA PTEN SDHB SDHC	143 2026 2720 3897 5290 5728 6390 6391	Homo sapiens (human)
DOID:6901	familiar ovarian carcinoma	PARP1 PIK3CA	142 5290	Homo sapiens (human)
DOID:9119	acute myeloid leukemia Aliases: AML - acute Myeloid Leukemia Leukemia, Myelocytic, acute acute myeloblastic leukaemia acute myeloblastic leukemia acute myelogenous leukaemia acute myelogenous leukemia acute myeloid leukaemia	AACS ABO ACACA ACE ACER3 ACHE ACLY ACOT7 ACSL5 ACSL6 ADH4 AGRN AKR1B1 AKR1C3 AKR1C4 ALG3 ALOX12 ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ARSD ASAH1 ATRNL1 B3GALT5 BAAT BST1 CACNA2D1 CACNA2D3 CALR CAT CBR1 CBR3 CD14 CD177 CD22 CD33 CD38 CD44 CD48 CD55 CD74 CDH13 CEL CEMIP CHI3L1 CHIT1 CHST9 CLC CLEC12A CLEC7A COLEC10 CPT1A CRYL1 CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2E1 CYP3A4 CYP7A1 DAG1 DHDDS DLAT EBP EFNA2 EFNA5 ELOVL6 ENO2 ENPP3 EXTL3 FCER2 FCGR3B FH FOLR2 FUT1 FUT4 G6PC3 G6PD GALNT14 GALNT2 GBE1 GDPD5 GGT1 GLB1L2 GLUL GP2 GPAT3 GPI GPX1 GPX3 GUSB HK2 HMMR HPGDS HPRT1 HPSE2 ICAM1 IDH1 IDH2 IDUA IL18R1 IL1R1 IL1RAP IL1RL1 INPP4B INPP5D ITPK1 KLRD1 KLRK1 LGALS1 LGALS3 LGALS9 LYZ MACROD2 MBD4 MCAT ME3 MICA MOGS MPI MTMR3 NAMPT NCAM1 NT5E NTM OARD1 OGG1 PAFAH1B1 PARG PARP1 PARP9 PCYT1A PDIA3 PFKFB3 PGP PGS1 PIGA PIGN PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PIP4K2B PKD1 PKM PLA2G4A PLA2G5 PLA2R1 PLAUR PLB1 PLCB1 PLCB4 PLCE1 PLCG1 PLCG2 PMM2 PNLIP POGLUT1 POMGNT2 PRKAA2 PTEN PTGES3 PTGS1 PTGS2 QPRT RPN1 RTN4R RTN4RL1 SDC4 SELL SHMT1 SIGLEC5 SIGLEC7 SIRT2 SIRT6 SLC27A5 SLC2A3 SLC2A5 SLC35F3 SLC35G1 SMC3 SMPD3 SMUG1 SOAT1 SPACA3 SPHK1 SRGN ST3GAL4 ST8SIA3 STS TIGAR TMEM260 TNFRSF10C TNKS TP53 UGCG UGT1A1 ULBP2 UMOD UNG VCAM1 VCAN XYLT1	100507436 1012 10135 10195 10317 1056 10584 10682 10728 10873 10998 1109 1116 1118 11332 1178 124912 127 1374 140733 142 1462 146760 148641 151056 1543 1544 1545 1555 1571 1576 1581 159371 160364 1604 1605 1636 1737 1943 1946 2026 2137 2208 221443 2215 2271 22914 22925 22933 231 23236 23305 23475 2350 23556 23583 23600 239 240 248 250 2523 2526 2539 2590 26033 2632 2678 27036 27306 27349 2752 28 2813 2821 283871 2876 2878 2923 2990 307 308 3099 31 3161 3251 3383 3417 3418 3425 353 3554 3556 3635 3705 375790 3824 3956 3958 3965 4069 412 414 427 43 4351 4684 47 4907 4968 5048 50863 51046 51084 51196 5130 51548 5169 51703 5209 5277 5290 5291 5293 5294 5305 5310 5315 5321 5322 5329 5332 5335 5336 5373 5406 54658 54916 55331 55512 5552 5563 55799 56983 570 57103 57126 57214 5728 5742 5743 60495 6184 6385 6402 64131 64581 6470 6484 65078 6515 6518 65985 6646 683 7157 7357 7369 7374 7412 781 7841 79071 79623 79947 80328 811 81544 83539 83666 8396 847 84803 84892 8505 8644 8658 873 874 8778 8794 8809 8821 8877 8897 8930 89944 9126 9173 92579 929 933 945 9489 952 960 962 972	Homo sapiens (human)
DOID:683	motor neuritis Aliases: peripheral motor neuropathy	AMACR GLO1 PTEN SCP2 SMUG1	23583 23600 2739 5728 6342	Homo sapiens (human)
DOID:11199	hypoparathyroidism	ADH1A AGA APRT ASAH1 COMT CYP27B1 CYP2R1 DGCR2 HADHA HADHB ST8SIA4 STS	120227 124 1312 1594 175 3030 3032 353 412 427 7903 9993	Homo sapiens (human)
DOID:0060890	ectopic Cushing syndrome Aliases: Cushing syndrome due to ectopic ACTH secretion ectopic ACTH secreting tumor	HSD11B2 SMUG1	23583 3291	Homo sapiens (human)
DOID:1088	meningocele	B3GALNT2 FKRP FKTN GMPPB LARGE1 LFNG POMGNT1 POMT1 POMT2 SC5D	10585 148789 2218 29925 29954 3955 55624 6309 79147 9215	Homo sapiens (human)
DOID:3620	central nervous system cancer Aliases: CNS neoplasm central nervous system tumor central nervous system tumors malignant neoplasm of central nervous system malignant tumor of CNS neoplasm of central nervous system	ACAT1 ACE ACOD1 ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSS2 ACYP2 AGK AGPS AKR1B1 ALDH1A3 AMACR ANXA5 ANXA7 APRT ART1 ATP6AP2 ATRN B4GALT5 BCAN BDH1 CACNA2D3 CALR CAT CD109 CD44 CD48 CD74 CD93 CDH13 CEACAM5 CERS1 CHI3L1 CHKA CHPF CHPT1 CHSY3 CLC CLEC5A CNTFR CNTN1 CNTN2 COL9A2 CSPG4 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP2J2 DAG1 DBT DCN DHCR24 DHDDS DPEP1 EBP EFNA1 ELOVL2 ENO1 ENOSF1 EXT1 FASN FBP1 FMOD FUT4 G6PD GAD1 GAL3ST1 GALNT2 GALNT7 GAPDH GAS1 GLB1 GLDC GLO1 GLUL GOLPH3 GPC1 GPC5 GPD1 GPD2 GPI GPIHBP1 GPNMB GPX1 HAS2 HEXA HEXB HK1 HK2 HMMR HPGDS HPSE HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 IDH1 IDH2 IL18R1 IMPA1 ISYNA1 ITPKA KHK KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 LPL LSS LYZ MAG MBD4 MBL2 ME1 MELTF MGAT1 MGAT5 MICA MMUT MPG MPI MRC1 MTAP MTMR3 MUTYH NAMPT NANS NT5E OPCML OXCT1 PARP1 PDIA3 PFKFB4 PGAM1 PGK1 PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PKM PLA2G4C PLA2G5 PLAUR PLCB1 PLCG1 PLD1 PLD2 PLEKHA8 PLOD3 PNLIP PNPLA2 PRKAA2 PRNP PRSS8 PSAP PSMD10 PTEN PTGES PTGS1 PTGS2 RECK RTN4R SCD SDC1 SDC2 SDHB SDHC SDHD SEMA7A SGMS1 SGMS2 SHMT2 SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A5 SLC35A1 SLC35A3 SLC37A4 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SPTLC1 SRD5A1 SRGN ST6GAL1 ST6GALNAC5 ST8SIA1 SUCLG1 SULF2 THEM4 TIGAR TKT TKTL1 TM7SF2 TMED5 TNFRSF10C TPI1 TREH TUSC3 TYMP UGP2 UGT8 VCAM1 VCAN	100507436 1012 10135 10159 10457 1048 10558 10559 10682 10715 10855 1116 11181 1119 11332 117145 1178 1271 1272 1298 135228 142 1462 1464 1543 1545 1555 1559 1571 1573 1586 1588 1594 1605 1629 1634 1636 166929 1718 1800 1890 1942 2023 2131 2180 2181 2182 2194 220 2203 2262 22914 22918 22933 231 23205 23236 2331 23443 23583 23600 23601 2526 2539 2542 2571 2590 259230 2597 2619 27036 2720 27306 2731 2739 2752 2817 2819 2820 2821 2876 2923 3037 3073 3074 308 3098 3099 310 3161 3339 3373 337876 3383 338328 3417 3418 353 3612 3706 3795 38 3897 3939 3956 3958 3965 4023 4047 4069 4099 4153 417 4199 4241 4245 4249 4350 4351 4360 4507 4594 4595 4907 4978 5019 50999 51477 51548 51703 51809 5210 5223 5230 5287 5289 5290 5291 5293 5294 5310 5311 5315 5322 5329 5335 5337 5338 5406 54187 54898 5552 55556 5563 55750 55799 55902 55959 5621 5652 5660 56848 56994 57103 57104 5716 5728 5742 5743 622 6319 6382 63827 6383 6390 6391 6392 64083 6472 6480 6489 65078 6515 6518 6609 6646 6715 6900 7086 7108 7167 730249 7360 7368 7412 79586 7991 79947 811 81849 8277 8372 8434 8455 847 84725 8482 8540 8605 8692 8794 8802 8809 8877 8897 8930 8985 9334 9514 9536 960 962 972 98	Homo sapiens (human)
DOID:0080212	polycystic kidney disease 4	ACE CD44 CYP4A22 CYP7B1 DOLK EOGT HJV INPP5E MPI PIK3CA PKD1 PKD2 PNPLA6 UMOD	10908 148738 1636 22845 284541 285203 4351 5290 5310 5311 56623 7369 9420 960	Homo sapiens (human)
DOID:6163	familial renal papillary carcinoma Aliases: Hereditary Papillary renal carcinoma	FH	2271	Homo sapiens (human)
DOID:3261	hyper IgE recurrent infection syndrome 1 Aliases: Job syndrome Job's syndrome hyperimmunoglobulin E syndrome	ICAM1 PGM3 SOAT1	3383 5238 6646	Homo sapiens (human)
DOID:11818	ureteric orifice cancer Aliases: Orifice of the Ureter malignant neoplasm of ureteric orifice of urinary bladder malignant tumor of ureteric orifice	DHCR24	1718	Homo sapiens (human)
DOID:0111421	familial apolipoprotein A5 deficiency Aliases: familial APOA5 deficiency familial apolipoprotein A-V deficiency	LPL	4023	Homo sapiens (human)
DOID:0090080	hypogonadotropic hypogonadism 16 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:3179	inverted papilloma Aliases: Inverted papilloma, squamous cell	PIK3CA PIK3CD PIK3CG PTEN	5290 5293 5294 5728	Homo sapiens (human)
DOID:0080571	congenital disorder of glycosylation Iu Aliases: congenital disorder of glycosylation 1u	DPM2	8818	Homo sapiens (human)
DOID:12721	multiple epiphyseal dysplasia Aliases: polyepiphyseal dysplasia	ACAN ACHE AKR1B1 ALDH3A2 ALG9 ALPL B3GAT3 B4GALT7 CD38 CHST1 CHST3 COL9A2 CTSA CYP2B6 CYP2C19 CYP2C9 EBP ENPP1 EXTL3 GALNS GLB1 GNPTAB HS6ST1 HSPG2 IDUA LFNG MICA NAGLU NANS NEU1 PAPSS2 PGM3 PTEN SGSH SLC26A2 SLC35A3 SLC35D1 SMUG1 XYLT1	100507436 10682 11285 1298 1555 1557 1559 176 1836 2137 224 231 23169 23443 23583 249 2588 26229 2720 3339 3425 3955 43 4669 4758 5167 5238 54187 5476 5728 64131 6448 79158 79796 8534 9060 9394 9469 952	Homo sapiens (human)
DOID:3098	small cell sarcoma	CD38	952	Homo sapiens (human)

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