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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 **5251 - 5275** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:13620	patent foramen ovale Aliases: Atrial septal defect within oval fossa Defect, Patent or persistent, ostium secundum Ostium secundum type atrial septal defect Persistent ostium secundum foramen ovale patent	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110389	retinitis pigmentosa 73 Aliases: RP73	HGSNAT	138050	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110634	congenital muscular dystrophy 1B Aliases: CMD1B MDC1B congenital muscular dystrophy type 1B	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:4977	lymphedema Aliases: Lymphatic edema Lymphoedema	AKR1B1 ALG8 GLA GUSB INPPL1 MPI NAGA NCAM1 PIK3CA PMM2 PTEN SLC35D1 SMUG1	231 23169 23583 2717 2990 3636 4351 4668 4684 5290 5373 5728 79053	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0090107	autosomal dominant hypocalcemia 1 Aliases: HYPOC1	ADH1A ADH1B ADH1C	124 125 126	Homo sapiens (human)	DisGeNET
DOID:116	pericardium cancer Aliases: Pericardial tumor malignant neoplasm of pericardium malignant tumor of Pericardium	CYP1A2	1544	Homo sapiens (human)	DisGeNET
DOID:1324	lung cancer	ABO ACACA ACAT1 ACE ACHE ACLY ACOT7 ACOT8 ACSBG1 ACSL1 ACSL3 ACSL4 ACSS1 ACSS2 ACYP2 ADH1A ADH1B ADH1C ADH5 ADH7 AGL AGRN AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C2 AKR1C3 ALDH1A3 ALDH1B1 ALDH2 ALDH3A1 ALDH3A2 ALDH7A1 ALDOA ALG13 ALG1 ALOX12B ALOX15 ALOX15B ALOX5 ALPI ALPP AMACR AMY1A AMY1B AMY1C ANXA4 ANXA5 APRT ARSA ARSF ASAH1 ATP6AP2 ATRNL1 B3GALNT1 B3GAT1 B3GNT3 B3GNTL1 B4GALT1 BAAT BPHL BRAF BST1 CA4 CACNA2D2 CALR CANX CAT CBR1 CD109 CD14 CD177 CD1D CD22 CD33 CD38 CD44 CD55 CD74 CD93 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CERS6 CHAT CHGA CHI3L1 CHKA CHKB CHODL CHPT1 CHST7 CLEC10A CLEC14A CNTN1 CNTN2 COMT CPM CRLS1 CRYBG3 CTSA CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2R1 CYP3A4 CYP3A5 CYP3A7-CYP3A51P CYP3A7 CYP4F3 DCN DDOST DGKA DGKH DHCR24 DHDDS DHDH DLD EBP EFNA1 ELOVL6 ENO1 ENO2 ENO3 ENPP1 ENPP2 EPHX2 ERLEC1 EXTL3 FASN FBP1 FBXO17 FCGR3B FCN2 FDFT1 FOLR1 FOLR2 FUT10 FUT11 FUT1 FUT2 FUT3 FUT4 FUT5 FUT7 FUT8 FUT9 G6PD GAD1 GALC GALK2 GALNS GALNT14 GALNT3 GALNT6 GAPDH GBE1 GCK GCNT1 GCNT3 GFPT2 GGT1 GLB1 GLCE GLDC GLUL GMDS GML GOLPH3 GPC1 GPC3 GPC5 GPI GPX1 GPX2 GPX3 GPX7 GUSB HADHA HAGH HAS2 HAS3 HK1 HK2 HKDC1 HMMR HPGDS HPRT1 HPSE HS3ST2 HS3ST3B1 HS6ST2 HSD11B1 HSD11B2 HSD17B1 HSD17B6 HSPG2 HYAL1 HYAL2 ICAM1 ICAM2 IDH1 IDH2 IDH3A IGF2R IL18R1 IL1RL1 IMPA1 INPP4A INPP4B INPP5D INPPL1 ISYNA1 ITPKA ITPKB KHK KL KLB KLRB1 KLRD1 KLRK1 L1CAM LAYN LDHA LDHB LDHC LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LIPC LPCAT1 LPIN1 LPIN3 LPL LY6K LYNX1 LYPD3 LYPD5 LYPLA1 MBD4 MBL2 MCAT MDH1 MDH2 ME1 ME2 MELTF MGLL MICA MMUT MOGS MPG MRC1 MSLN MTAP MTMR3 MUTYH NAMPT NCAM1 NEIL1 NEIL2 NEU1 NEU3 NT5E NTHL1 OGA OGG1 OLR1 OPCML PAFAH1B1 PAPSS1 PARG PARP1 PC PCK2 PCYT1A PDIA3 PFKFB3 PGAM1 PGD PGK1 PIGN PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PKM PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLB1 PLCB3 PLCB4 PLCD1 PLCE1 PLCG1 PLCH1 PLOD3 PLPP4 PLPP5 PMM2 PNPLA2 POFUT1 POGLUT1 PPT1 PRG2 PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGES3 PTGES PTGIS PTGS1 PTGS2 PYGB QTRT1 RECK REG1B REG3G RENBP RGMB RGN RPN2 RTN4R SCD SDC1 SDC2 SDC4 SDHA SDHC SELE SELP SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SGMS1 SHMT1 SHMT2 SIGLEC9 SIRT2 SIRT4 SIRT6 SLC17A5 SLC26A2 SLC2A10 SLC2A3 SLC2A5 SLC33A1 SLC35A4 SLC5A1 SMC3 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SQLE SRGN ST6GAL1 ST8SIA2 ST8SIA4 STS SULF1 SULF2 SULT1E1 SYNJ2 THEM4 TIGAR TM7SF2 TMTC3 TNFRSF10C TNKS2 TNKS TPI1 TPST1 TREH TUSC3 TYMP UGCG UGDH UGP2 UGT1A1 UGT1A3 UGT1A6 UGT1A7 UGT1A9 UGT2B17 UGT8 ULBP1 UMPS UNG VCAM1 VCAN VTCN1 XXYLT1 YDJC	10005 100507436 100861540 1012 10135 10159 10232 10327 10331 10434 10462 1048 10682 10690 10724 10728 10825 10855 1087 1103 1113 1116 11181 1119 1120 11226 11332 11343 113829 115290 117145 120227 124 125 126 1272 128 130120 131 1312 131544 135228 1368 140578 142 143903 1462 146712 150223 151056 152002 152831 1543 1544 1545 1551 1555 1557 1558 1559 1571 1576 1577 1586 1588 1589 1591 1593 1594 1604 160418 1606 160851 161198 1634 1636 1645 1646 1650 170384 1718 1738 178 1836 1890 1942 196051 2023 2026 2027 2053 2137 217 218 2180 2181 2182 219 2194 220 2203 2215 2220 2222 224 226 2262 22914 22918 22933 23007 231 23175 23205 23213 23409 2348 2350 23509 23556 23583 23600 240 242 246 247 248 250 2523 2524 2525 2526 2527 2529 252969 2530 253782 2539 2571 2581 2585 2588 2591 259230 2597 26033 26035 2632 2645 2650 26503 2678 2683 27076 27087 27180 2719 2720 27248 27294 27306 2731 27349 2752 276 2762 2765 277 278 28 2817 2821 284348 285704 2876 2877 2878 2882 2923 2990 3029 3030 3037 3038 307 308 3098 3099 31 3161 3251 3290 3291 3292 3339 3373 3383 3384 3417 3418 3419 3482 353 3612 3631 3635 3636 3706 3707 375790 3795 38 3820 3824 3897 3939 3945 3948 3956 3958 3960 3964 3965 3990 4023 4051 410 412 4153 416 4190 4191 4199 4200 4241 427 43 4350 4360 4507 4594 4595 4680 4684 47 4758 4907 4913 4968 4973 4978 501 5048 5091 5106 51196 5130 51477 51548 5167 5168 5209 5223 5226 5230 5287 5289 5290 5291 5293 5294 5310 5311 5315 5319 5320 5321 5329 5331 5332 5333 5335 5373 54577 54578 54600 54658 54659 54675 54742 5476 5538 5552 5553 5563 55902 55959 56052 5621 5652 56548 56848 56983 56994 570 57016 57103 57104 57126 5716 57214 5728 5740 5742 5743 5834 5968 5973 6185 6319 6382 6383 6385 6389 6391 6401 6403 64083 6440 6441 6470 6472 6480 64900 65078 6515 6518 6523 653509 66004 6609 6646 670 6713 673 6783 683 6900 7108 7167 729238 7357 7358 7360 7367 7368 7372 7374 7412 762 7841 7903 79071 79623 79661 79679 79868 79888 7991 79947 80201 80329 80351 81031 811 8128 81890 821 8398 8399 8434 84513 84532 8460 847 84750 8482 8505 8630 8644 8658 8692 8706 873 8794 8809 8821 8871 8877 8897 8930 8985 90161 9061 9104 912 9126 9173 9197 9245 9254 929 933 9365 945 952 9536 960 972 98 9945 9953 9956	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2452	thrombophilia Aliases: hypercoagulability state	A4GALT ABO ACE ACSM3 ACSS2 ALG6 ANXA5 B3GAT2 CALR CAT CD14 CEACAM5 CEACAM7 CHI3L1 CLEC1B COMT CYP19A1 CYP1A1 CYP1A2 CYP2C9 CYP3A5 CYP4F2 DLD DPM1 DPM2 EXT1 FCGR3B GBGT1 GFRA1 GLA GPI GPX3 HPSE IDH1 IDH2 LCT LPL LTC4S MBL2 MGAT2 MGLL MPI NGLY1 NT5E PC PIGA PIGM PLA2G15 PLA2G1B PLA2G2A PLA2G6 PLB1 PLCG2 PMM2 PPP1R3B PPP1R3C PTEN SCD SDC1 SELE SELP SMPD1 SMUG1 SRD5A3 ST3GAL4 STS TKTL1 TM7SF2 VCAM1	1048 10855 1087 1116 11343 1312 135152 151056 1543 1544 1559 1577 1588 1636 1738 2131 2215 23583 23659 26301 2674 2717 28 2821 2878 29929 308 3417 3418 3938 4023 4056 412 4153 4247 4351 4907 5091 51266 5277 5319 5320 5336 5373 53947 5507 55768 55902 5728 6296 6319 6382 6401 6403 6484 6609 7108 7412 79644 79660 811 8277 8398 847 8529 8813 8818 929 93183	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:3156	hypomelanosis of Ito Aliases: Bloch-Siemans syndrome Incontinentia pigmenti achromians syndrome Ito's nevus incontinentia pigmenti achromians nevus of Ito	ACACA CD38 CEL CHIT1 CLEC7A COLEC11 CYP1B1 CYP51A1 G6PD IL1R1 MASP1 MPG NSDHL PARP9 SFTPD SLC27A5 SMUG1	1056 10998 1118 1545 1595 23583 2539 31 3554 4350 50814 5648 6441 64581 78989 83666 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0050012	chikungunya Aliases: Chikungunya fever	AKR1C4 BST2 CD209 CD74 FASN GOLPH3 KLRD1 MPG NCAM1 NDST1 PIK3CA PIK3CB PIK3CD PIK3CG SIGLEC9 SMUG1 SPHK2	1109 2194 23583 27180 30835 3340 3824 4350 4684 5290 5291 5293 5294 56848 64083 684 972	Homo sapiens (human)	DisGeNET
DOID:0070140	autosomal recessive cutis laxa type IIC	ATP6AP1 ATP6V0A2 ATP6V1A B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 523 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060609	microcephalic osteodysplastic primordial dwarfism type II Aliases: Majewski osteodysplastic primordial dwarfism type II osteodysplastic primordial dwarfism type II	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:10915	Wernicke-Korsakoff syndrome Aliases: Korsakoff Syndrome Korsakoff's psychosis Korsakoff's syndrome Korsakov psychosis Korsakov's psychosis	ACACA ADH1B AKR1A1 ALDH2 CAT COMT CYP19A1 DLST GAD1 GLUL PIK3CA PIK3CB PIK3CD PIK3CG PNPLA3 TKT	10327 125 1312 1588 1743 217 2571 2752 31 5290 5291 5293 5294 7086 80339 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0080342	Simpson-Golabi-Behmel syndrome type 2	PIGA	5277	Homo sapiens (human)	DisGeNET
DOID:0110430	dilated cardiomyopathy 1G Aliases: CMD1G	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)	DisGeNET
DOID:0110798	hereditary spastic paraplegia 46 Aliases: SPG46 autosomal recessive spastic paraplegia 46 autosomal recessive spastic paraplegia type 46	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110536	autosomal recessive nonsyndromic deafness 91 Aliases: DFNB91 autosomal recessive deafness 91	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:0110553	autosomal dominant nonsyndromic deafness 23 Aliases: DFNA23 autosomal dominant deafness 23	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:0080053	Albright's hereditary osteodystrophy Aliases: Albright hereditary osteodystrophy pseudohypoparathyroidism type 1a	APRT ASAH1 GPC1	2817 353 427	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0111263	combined malonic and methylmalonic acidemia Aliases: CMAMMA combined malonic and methylmalonic aciduria	ACSF3	197322	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060298	complement component 4b deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	Homo sapiens (human)	DisGeNET
DOID:0111235	congenital muscular dystrophy-dystroglycanopathy type A12 Aliases: MDDGA12 Walker-Warburg syndrome or muscle-eye-brain disease POMK-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12	POMK	84197	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:2786	cerebellar disease	ACER3 ACHE ARSA ARSG CACNA2D2 CAT CLN5 CYP7B1 DLD ELOVL4 ELOVL5 ENO2 GAA GAD1 GAD2 GALC GALT GBA2 GLB1 HSD17B4 MAG OGG1 PARP1 PCYT1A PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G6 PMM2 PNPLA6 PPT2 PRNP SRD5A3	10908 1203 142 1738 2026 22901 2548 2571 2572 2581 2592 2720 3295 4099 410 43 4968 5130 5160 5290 5291 5293 5294 5373 55331 5621 57704 60481 6785 79644 8398 847 9254 9374 9420	Homo sapiens (human)	DisGeNET DisGeNET
DOID:5766	pulmonary sclerosing hemangioma Aliases: Pneumocytoma	CEACAM5 PTEN SMUG1	1048 23583 5728	Homo sapiens (human)	DisGeNET
DOID:891	progressive myoclonus epilepsy Aliases: PME progressive myoclonic epilepsy	ARSA ASAH1 CERS1 EPM2A GAPDH GBA1 NAGLU NEU1 PFKL PRNP TMED9	10715 2597 2629 410 427 4669 4758 5211 54732 5621 7957	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources

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