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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 **751 - 775** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0060184	lymphocytic colitis	CHGA PTEN	1113 5728	Homo sapiens (human)
DOID:11130	secondary hypertension	SLC33A1	9197	Homo sapiens (human)
DOID:4676	uremia Aliases: UREMIA OF renal ORIGIN	ACE ACSS2 AGL AGXT AKR1B1 ALPL ALPP APRT ATP6AP2 ATRNL1 CAT COMT CTSA CYP11B2 CYP24A1 CYP3A4 DCN DEGS1 DGKE ENPP1 FCGR3B G6PC1 GCNT2 GGT1 GLA HAGH HSPG2 ICAM1 IDH2 KL KLB LCAT LYZ MASP1 MBL2 NAMPT OCRL PARP1 PIK3C3 PKD1 PKD2 PLA2G15 PLA2G7 PTGS1 PTGS2 RENBP RGN SDC1 SDC2 SELL SLC17A5 SLC35G1 SMUG1 TM7SF2 UMOD VCAM1	10135 10159 1312 142 152831 1576 1585 1591 159371 1634 1636 178 189 2215 231 23583 23659 249 250 2538 26033 26503 2651 2678 2717 3029 3339 3383 3418 353 3931 4069 4153 4952 5167 5289 5310 5311 5476 55902 5648 5742 5743 5973 6382 6383 6402 7108 7369 7412 7941 847 8526 8560 9104 9365	Homo sapiens (human)
DOID:7475	diverticulitis	ARSA CHPT1 CLEC7A FOLR2	2350 410 56994 64581	Homo sapiens (human)
DOID:11105	fundus albipunctatus Aliases: Pigmentary retinal dystrophy retinitis punctata albescens	ABO ACE ACOX1 ADH7 ALDH3A2 ALDH7A1 ALG12 AMACR ARSI CA4 CANX CD44 CD74 COG4 CTNS DGKE DHDDS ECHS1 ELOVL4 ELOVL6 FASN FKRP G6PD GK GLO1 GMPPB GNPTG HADH HADHA HADHB HGSNAT HK1 HK2 HKDC1 HSD17B6 IDH2 IDH3A IDH3B IMPA1 KL LARGE1 LPCAT1 MDH1 NAGLU NGLY1 NYX PDHA1 PMM2 PNPLA2 PNPLA6 POMGNT1 POMT1 POMT2 PRNP PTEN RPE SDHA SDHB SDHD SFTPD SGSH SMC3 SYNJ1 TMED3	10585 10908 131 138050 1497 1636 1892 2194 224 23423 23600 2539 25839 2710 2739 28 29925 29954 3030 3032 3033 3098 3099 340075 3418 3419 3420 3612 4190 4669 501 51 5160 5373 55624 55768 5621 57104 5728 60506 6120 6389 6390 6392 6441 6448 6785 762 79071 79087 79147 79888 79947 80201 821 84572 8526 8630 8867 9126 9215 9365 960 972	Homo sapiens (human)
DOID:4202	brain stem glioma Aliases: Brainstem Neuroglial tumor	DHDDS IDH1 IDH2 PIK3CA	3417 3418 5290 79947	Homo sapiens (human)
DOID:0080146	childhood B-cell acute lymphoblastic leukemia	CD22 CD38 FCN2 FUT4 LIPA MBL2 PIK3CA PIK3CB PIK3CG SLC2A5	2220 2526 3988 4153 5290 5291 5294 6518 933 952	Homo sapiens (human)
DOID:11613	hyperandrogenism Aliases: hyperandrogenization syndrome	ACE AKR1C3 CYP11A1 CYP17A1 CYP19A1 CYP21A2 H6PD HSD11B1 HSD17B7 HSD3B2 IL6ST NAMPT PAPSS2 PIK3CA PIK3CB PIK3CD PIK3CG STS UGT2B15	10135 1583 1586 1588 1589 1636 3284 3290 3572 412 51478 5290 5291 5293 5294 7366 8644 9060 9563	Homo sapiens (human)
DOID:3071	gliosarcoma Aliases: Glioblastoma with sarcomatous component	ACAT1 ACE ACOD1 ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSS2 ACYP2 AGK AGPS AKR1B1 ALDH1A3 AMACR ANXA5 ANXA7 APRT ART1 ATP6AP2 ATP6V0A2 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 DCTD DHCR24 DHDDS DPEP1 EBP EFNA1 ELOVL2 ENO1 ENOSF1 EXT1 FASN FBP1 FBXO17 FIG4 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 LAYN LDHA LGALS1 LGALS3 LGALS9 LPL LSS LYZ MAG MBD4 MBL2 ME1 MELTF MGAT1 MGAT5 MICA MMUT MPG MPI MRC1 MSLN MTAP MTMR3 MUTYH NAMPT NANS NT5E OPCML OXCT1 PARP1 PDIA3 PFKFB4 PGAM1 PGK1 PIK3C2B 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 QPRT RECK RTN4R SCD SDC1 SDC2 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 STS SUCLG1 SULF2 THEM4 TIGAR TKT TKTL1 TM7SF2 TMED5 TNFRSF10C TPI1 TREH TUSC3 TYMP UGP2 UGT8 VCAM1 VCAN	100507436 1012 10135 10159 10232 10457 1048 10558 10559 10682 10715 10855 1116 11181 1119 11332 115290 117145 1178 1271 1272 1298 135228 142 143903 1462 1464 1543 1545 1555 1559 1571 1573 1586 1588 1594 1605 1629 1634 1635 1636 166929 1718 1800 1890 1942 2023 2131 2180 2181 2182 2194 220 2203 2262 22914 22918 22933 231 23205 23236 2331 23443 23475 23545 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 412 4153 417 4199 4241 4245 4249 4350 4351 4360 4507 4594 4595 4907 4978 5019 50999 51477 51548 51703 51809 5210 5223 5230 5287 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 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 9896	Homo sapiens (human)
DOID:3755	antithrombin III deficiency Aliases: AT III deficiency hereditary thrombophilia due to congenital antithrombin deficiency	ABO ACE ALG6 ANXA5 CEACAM5 CEACAM7 CYP2C9 DLD DPM1 DPM2 GLA HPSE LCT MBL2 MGAT2 MPI NGLY1 PC PIGA PMM2 PPP1R3B PPP1R3C PTEN SCD SDC1 SELP SMPD1 SRD5A3 STS	1048 10855 1087 1559 1636 1738 2717 28 29929 308 3938 412 4153 4247 4351 5091 5277 5373 5507 55768 5728 6319 6382 6403 6609 79644 79660 8813 8818	Homo sapiens (human)
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	PIGB	9488	Homo sapiens (human)
DOID:9649	congenital nystagmus	ACO2 ACOX1 ADPRS AGK AGRN ALG13 ALG2 ASAH1 ATP6V1A B3GLCT CA4 CACNA2D2 CACNA2D4 CHAT COG4 CYP1B1 CYP7B1 DEGS1 DHCR24 DLAT DPAGT1 EBP ECHS1 ELOVL4 ELOVL5 EXT2 FCSK GAD1 GALC GBA2 GMPPB GPAA1 HEXB HGSNAT HIBCH HS6ST1 HSD17B4 IDH3A IDH3B INPP5E INPP5K L1CAM L2HGDH MAG MAN2B1 MANBA MECR MPDU1 NAGA NANS NEU1 NT5E NYX OCRL OGT PCYT1A PDHA1 PIGN PIGQ PIGS PIGT PLA2G6 PLD3 PMM2 PNPLA6 POMGNT1 PRNP PRPS1 RPIA SDHA SDHB SDHD SGSH SLC17A5 SLC33A1 SLC35A1 SLC35A2 SLC39A8 SMC3 SMPD1 SRD5A3 ST3GAL5 STS SYNJ1 XYLT2	10559 10682 10908 1103 138050 145173 1545 1718 1737 1798 1892 197258 2132 22934 23556 23646 2571 2581 25839 26275 26503 29925 3074 3295 3419 3420 375790 3897 4099 412 4125 4126 427 4668 4758 4907 4952 50 51 51102 5130 5160 51604 51763 523 5373 54187 54936 55624 55750 5621 5631 56623 57704 60481 60506 6389 6390 6392 64116 64132 6448 6609 6785 7355 762 79644 79868 79944 8398 8473 85365 8560 8733 8867 8869 9091 9126 9197 9254 93589 9394 94005 9420 9526	Homo sapiens (human)
DOID:0060699	familial hypocalciuric hypercalcemia Aliases: FBH FBHH FHH familial benign hypercalcemia familial benign hypocalciuric hypercalcemia	CYP24A1	1591	Homo sapiens (human)
DOID:0112379	muscular dystrophy-dystroglycanopathy type B4 Aliases: MDDGB4 congenital muscular dystrophy FKTN-related	FKTN	2218	Homo sapiens (human)
DOID:5732	pyosalpinx Aliases: Pyosalpingitis	ABO CHI3L1 CTSA FCGR3B MAN1B1 PIK3CD	1116 11253 2215 28 5293 5476	Homo sapiens (human)
DOID:0111128	focal segmental glomerulosclerosis 1 Aliases: FSGS1	ACE	1636	Homo sapiens (human)
DOID:1697	ichthyosis Aliases: ichthyoses non-syndromic ichthyosis	ACE ALDH3A2 ALOX12B AMY2B ARSA CERS3 DGAT1 DOLK EBP ELOVL3 ELOVL4 GBA1 HS6ST1 HSD17B6 LPIN2 MPDU1 MSMO1 PIGL PNPLA2 PNPLA6 SGPL1 SRD5A3 STS SULT2B1 SUMF1	10682 10908 1636 204219 224 22845 242 2629 280 285362 410 412 57104 6307 6785 6820 79644 83401 8630 8694 8879 9394 9487 9526 9663	Homo sapiens (human)
DOID:0080218	primary spontaneous pneumothorax	CERS1	10715	Homo sapiens (human)
DOID:0111231	congenital muscular dystrophy-dystroglycanopathy type A8 Aliases: MDDGA8 Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8	CRPPA POMGNT2	729920 84892	Homo sapiens (human)
DOID:5418	schizoaffective disorder	ACADS ACHE ACOT7 ACSL6 ADH1B AGA ALDH2 ALDH5A1 ALG9 ARSA ARSB B3GAT1 CALR CHI3L1 CHPT1 COMT CYP27B1 CYP2B6 DHDDS EPM2A G6PD GAD1 GAD2 GLUL HPGDS LGALS3 ME2 MGAT1 NPL PAFAH1B1 PIK3C2A PLA2G1B PLA2G4A PLCB4 PPT1 PRNP RPN2 RTN4R SLC27A5 SMUG1 SPTLC1 ST3GAL1 UXS1 VCAM1	10558 10998 1116 11332 125 1312 1555 1594 175 217 23305 23583 2539 2571 2572 27087 27306 2752 35 3958 410 411 4200 4245 43 5048 5286 5319 5321 5332 5538 5621 56994 6185 6482 65078 7412 7915 7957 79796 79947 80146 80896 811	Homo sapiens (human)
DOID:0060742	methylmalonic acidemia cblA type Aliases: methylmalonic aciduria cblA type methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type	MMUT	4594	Homo sapiens (human)
DOID:626	complement deficiency Aliases: Complement deficiency disease	ACE CALR CAT CD14 CD55 CEL CHI3L1 CHIT1 CYP21A2 CYP27B1 EPHX2 FCGR3B FCN3 IL18R1 LGALS1 LYZ MANBA MASP2 MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PLB1 PTGS2 RECK SELE SLC27A5 SMUG1 SOAT1 ST8SIA4 VTCN1	1056 10747 10998 1116 1118 151056 1589 1594 1604 1636 2053 2215 23583 3956 4069 4126 4360 4684 5290 5291 5293 5294 5743 6401 6646 7903 79679 811 83666 8434 847 8547 8809 929	Homo sapiens (human)
DOID:0060218	CREST syndrome	CD22 FCGR3B MRC1	2215 4360 933	Homo sapiens (human)
DOID:4998	trichorhinophalangeal syndrome type II Aliases: Langer-Giedion syndrome Trichorhinophalangeal dysplasia type II trichorhinophalangeal syndrome type 2	EXT1	2131	Homo sapiens (human)
DOID:4586	familial meningioma	PTEN	5728	Homo sapiens (human)

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