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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 **3101 - 3125** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:11252	microcytic anemia	ACO1 BDH2 CACNA2D3 CAT CD55 HJV IDUA LALBA LPIN2 PLA2G4A PLA2G6 SMPD1 SRD5A3	148738 1604 3425 3906 48 5321 55799 56898 6609 79644 8398 847 9663	Homo sapiens (human)
DOID:0060671	cerebral cavernous malformation 3	SMUG1	23583	Homo sapiens (human)
DOID:0060587	Noonan syndrome 9 Aliases: NS9	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)
DOID:9834	hyperopia Aliases: Far-sightedness farsightedness hypermetropia	ATP6AP1 ATP6V1A B3GAT3 CHST3 FKTN MAG MAN1B1 PGAP2 PGAP3 PIGL PIGO PIGT PIGV PIGW PIGY POMT2 RPE SLC35A2 SLC39A8	11253 2218 26229 27315 284098 29954 4099 51604 523 537 55650 6120 64116 7355 84720 84992 93210 9469 9487	Homo sapiens (human)
DOID:14107	De Quervain disease Aliases: Radial styloid tenosynovitis Tenosynovitis, de Quervain's	GUSB SMUG1	23583 2990	Homo sapiens (human)
DOID:13336	congenital toxoplasmosis Aliases: Toxoplasmosis - congen.	ALOX12 ENPP1	239 5167	Homo sapiens (human)
DOID:583	hemolytic anemia Aliases: ANEMIA HEMOLYTIC	ABO ALDH9A1 ALDOA CD55 DGKE FBP1 FOLR2 G6PD GALT GCLC GPI H6PD HK1 HPGDS LCAT PFKM PGK1 PGM3 PIGA PIGT PKLR PTGS2 SLC35A2 SMUG1 TPI1 UGCG UGT1A1	1604 2203 223 226 2350 23583 2539 2592 2729 27306 28 2821 3098 3931 51604 5213 5230 5238 5277 5313 54658 5743 7167 7355 7357 8526 9563	Homo sapiens (human)
DOID:9923	developmental coordination disorder	ACADSB ACAT1 AGK AGRN ALDH5A1 ALG14 ALG2 ARSD ASAH1 ATP6AP2 ATP6V0A2 ATP6V1A B3GALNT2 CAT CHAT CHKB CHST14 CHST3 COG4 COG5 CRPPA CYP27B1 CYP2R1 CYP2U1 DAG1 DGKK DPAGT1 EXT2 EXTL3 FKRP FKTN GBA1 GFPT1 GMPPB HACD1 HADH HADHA HADHB HGSNAT HIBCH HPRT1 INPP5K LARGE1 LMAN2L MAN1B1 MBOAT7 MTMR14 MTMR2 NDST1 OGG1 PGAP1 PIGC PNP PNPLA2 POMGNT1 POMK POMT1 POMT2 PRPS1 PTEN SDHA SDHB SDHD SRD5A3 ST3GAL3 TECR TUSC3	10159 10466 10585 1103 1120 11253 113189 113612 120227 138050 139189 148789 1594 1605 1798 199857 2132 2137 2218 23545 25839 26275 2629 2673 29925 29954 3030 3032 3033 3251 3340 36 375790 38 414 427 4860 4968 51763 523 5279 55624 55750 5631 57104 5728 6389 6390 6392 64419 6487 729920 79143 79147 7915 79644 7991 80055 81562 84197 847 85365 8898 9200 9215 9469 9524	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:3449	penis carcinoma Aliases: Penile carcinoma carcinoma of penis	MRC1 PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	23583 4360 5290 5291 5293 5294	Homo sapiens (human)
DOID:0111233	congenital muscular dystrophy-dystroglycanopathy A14 Aliases: MDDGA14 Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14	GMPPB	29925	Homo sapiens (human)
DOID:0070123	congenital nongoitrous hypothyroidism 4 Aliases: CHNG4 isolated thyrotropin deficiency	ACE ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD HJV	145173 148738 1636 1946 2026 2539 427 43	Homo sapiens (human)
DOID:1115	sarcoma Aliases: connective and soft tissue neoplasm tumor of soft tissue and skeleton	ACAN ACSL3 ACSL4 ANXA5 ARSF B3GAT1 CD109 CD14 CD1D CD248 CD38 CD44 CEL CHSY1 CMAS COL9A2 CSPG4 CYP3A4 DCN DHCR24 ENPP2 EXTL3 FBP2 FCGR3B GLUL GPC3 GPC5 HK2 HPRT1 HPSE IDH1 IDH2 ISYNA1 KLRK1 LGALS1 LSS MRC1 MTAP NANS NCAM1 OGA OS9 PARP1 PARP9 PDHX PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PLD2 PLPP2 PTEN PTGS2 SDHA SDHB SDHC SELP SIRT2 SLC27A5 SMUG1 STS TM7SF2 TP53 UGT1A1	1056 10724 10855 10956 10998 1298 135228 142 1464 1576 1634 1718 176 2137 2181 2182 2215 2262 22856 22914 22933 23583 27087 2719 2752 308 3099 3251 3417 3418 3956 4047 412 416 4360 4507 4684 51477 5168 5290 5291 5293 5294 5329 5338 54187 54658 55907 57124 5728 5743 6389 6390 6391 6403 7108 7157 8050 83666 8612 8789 912 929 952 960	Homo sapiens (human)
DOID:0110572	autosomal dominant nonsyndromic deafness 49 Aliases: DFNA49 autosomal dominant deafness 49	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:0080171	esophageal atresia/tracheoesophageal fistula Aliases: esophageal atresia and/or tracheoesophageal fistula tracheoesophageal fistula with or without esohageal atresia	CEACAM5 CEACAM7	1048 1087	Homo sapiens (human)
DOID:14717	centronuclear myopathy Aliases: myotubular myopathy	ACHE B4GAT1 CD38 CHAT CHKB CLEC10A CYP19A1 FKRP FKTN GFPT1 GMPPB HACD1 IDS LARGE1 MTM1 MTMR14 MTMR1 MTMR2 MTMR6 MTMR7 MTMR8 OVGP1 POMGNT1 POMT1 SIRT4 SLC2A4	10462 10585 1103 11041 1120 1588 2218 23409 2673 29925 3423 43 4534 5016 55613 55624 64419 6517 79147 8776 8898 9107 9108 9200 9215 952	Homo sapiens (human)
DOID:4976	elephantiasis	ALG8 GLA GUSB INPPL1 MPI NAGA PIK3CA PMM2 PTEN SLC35D1	23169 2717 2990 3636 4351 4668 5290 5373 5728 79053	Homo sapiens (human)
DOID:6759	bone lymphoma Aliases: Lymphoma of the bone lymphoma of bone	SMUG1	23583	Homo sapiens (human)
DOID:0110938	autosomal dominant osteopetrosis 2 Aliases: Albers-Schonberg osteopetrosis OPTA2 autosomal dominant Albers-Schonberg disease autosomal dominant osteopetrosis type II osteopetrosis autosomal dominant type 2	ARSA CLC DEGS1 DHCR24 EXTL2 EXTL3 PTDSS1	1178 1718 2135 2137 410 8560 9791	Homo sapiens (human)
DOID:0112160	autosomal dominant nonsyndromic deafness 79 Aliases: DFNA79	SCD5	79966	Homo sapiens (human)
DOID:0060538	purpura fulminans Aliases: purpura gangrenosa	ANXA5 CD14 COLEC11 MASP1 MBL2 NCAM1 PC PLD1 SDC1 SELL SLC17A5	26503 308 4153 4684 5091 5337 5648 6382 6402 78989 929	Homo sapiens (human)
DOID:4794	obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered	ABO AMACR CD38 CHGA ENO2 HMMR HPGDS MELTF MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SIGLEC7 UGCG	1113 2026 23600 27036 27306 28 3161 4241 4360 5290 5291 5293 5294 5728 5743 7357 952	Homo sapiens (human)
DOID:0080108	myoglobinuria	CPT2 HADH HADHA HADHB LDHA LPIN1 LPIN2 LPIN3 PGAM2 PGK1 PYGM	1376 23175 3030 3032 3033 3939 5224 5230 5837 64900 9663	Homo sapiens (human)
DOID:2237	hepatitis Aliases: acute and subacute liver necrosis acute hepatitis acute/subac. necrosis of liver animal hepatitis chronic hepatitis chronic persistent hepatitis	ABO ACACA ACADM ACE ACOT7 AKR1D1 ALDH2 ALDOB ALPP APRT ARSH ATRNL1 B4GALT1 BDH1 BST2 CALR CAT CD14 CD1D CD44 CD74 CEL CFC1 CHI3L1 CHPT1 CHST3 CLEC7A COLGALT2 CPT1A CPT1B CPT2 CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP1A2 CYP1B1 CYP21A2 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP7A1 CYP7B1 DLAT ECHS1 ENPP2 EXT1 FADS2 FBP1 FCGR3B FUT8 G6PD GGT1 GPC3 GPI GPNMB GPX1 GUSB HADH HAS1 HAS3 HKDC1 HPGDS HSD11B2 HSD17B3 HSD17B6 HSD3B2 ICAM1 IL1R1 IPMK KLRB1 KLRC1 KLRK1 LGALS1 LGALS3 LGALS9 LIPC LTC4S MBL2 MBOAT7 MGLL MICA MPPE1 NAMPT NCAM1 NCAN NT5E OGG1 PARP1 PARP2 PARP9 PC PDIA3 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLD4 PMM1 PNPLA3 PRKAA2 PSMD10 PTEN PTGES PTGS1 PTGS2 RGN SDC1 SELP SGMS1 SIGLEC7 SIGLEC9 SIRT2 SIRT6 SLC17A5 SLC27A5 SMPD1 SMUG1 SOAT1 SPHK1 ST6GAL1 SULF1 TIPARP UGT1A1 UGT2B7 UMOD VCAM1	10038 100507436 10135 10457 1056 10998 1116 11332 11343 122618 1374 1375 1376 142 1463 1544 1545 1555 1557 1559 1571 1576 1581 1583 1584 1586 1588 1589 1593 1636 1737 1892 2131 217 2203 2215 229 22914 22933 23127 23213 23583 250 2530 253430 2539 259230 25976 26033 26503 2678 2683 27036 27180 2719 27306 28 2821 2876 2923 2990 3033 3036 3038 31 3284 3291 3293 3383 34 347527 353 3554 3820 3821 3956 3958 3965 3990 4056 4153 4684 4907 4968 5091 51548 5168 5236 5290 5291 5293 5294 5372 54658 5563 55997 56994 5716 5728 5742 5743 622 6382 6403 64581 6480 65258 6609 6646 6718 684 7364 7369 7412 79143 80201 80339 811 83666 847 8630 8877 9104 912 929 9415 9420 9469 9536 960 972	Homo sapiens (human)
DOID:12849	autistic disorder Aliases: Kanner's syndrome autism autistic disorder of childhood onset childhood autism infantile autism	ABAT ABO ACACA ACADSB ACAN ACE ACSL4 ACSM3 AKR1A1 ALDH1A3 ALDH2 ALDH5A1 ALG13 AMT AMY1A AMY1B AMY1C APRT ARSA ARSD ARSI ATP6AP2 ATP6V1A B3GLCT BST1 CALR CAT CD38 CDH13 CHAT CLEC7A CMAS CNTN2 CNTN3 CNTN4 CNTN5 CNTN6 COMT CS CYP11A1 CYP11B1 CYP11B2 CYP19A1 CYP1A2 CYP1B1 CYP21A2 CYP27A1 CYP2C19 CYP2E1 CYP2R1 DGCR2 DHCR24 DHCR7 DLD ELOVL2 ENO2 EPHX2 EXT1 FADS1 FADS2 FH FOLR1 FOLR2 G6PD GAD1 GAD2 GALNT14 GALNT17 GLDC GLO1 GLUL GMDS GNPAT GNPTAB GPX1 HAGH HPGDS IDS IL18RAP IL1RAP IL1RAPL1 IL1RAPL2 L1CAM LDHB LIPG LYZ MACROD2 MAN1B1 MBD4 MBOAT7 MRC1 NAGA NAGLU NCAM1 NTM NTNG1 OCRL OGG1 PAFAH1B1 PC PCYT1A PIGH PIGL PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G12A PLA2G4A PLA2G4C PLAUR PLCB1 POMGNT1 PTDSS1 PTEN PTGES3 PTGES PTGS1 PTGS2 RTN4R SCD SDC2 SDC4 SDHB SDHC SDHD SHMT1 SHMT2 SLC25A12 SLC2A3 SLC33A1 SLC35A3 SLC35G1 SMC3 SOAT1 SPHK2 SRD5A3 ST8SIA2 STS SYNJ1 TM7SF2 TNF TPI1 UGT1A1 UPP2	1012 10159 10327 10728 1103 11141 11253 120227 1312 140733 1431 145173 151531 152330 1544 1545 1557 1571 1583 1584 1585 1588 1589 1593 159371 1636 1717 1718 1738 176 18 2026 2053 2131 217 2182 220 2271 22854 23236 23443 2348 2350 2539 2571 2572 26280 27255 27306 2731 2739 275 2752 276 2762 277 278 28 2876 3029 31 340075 3423 353 3556 36 3897 3945 3992 4069 410 412 414 4360 4668 4669 4684 4952 4968 5048 5067 50863 5091 5130 523 5283 5290 5291 5293 5294 5311 5321 5329 53942 54658 54898 55624 55907 56848 5728 5742 5743 6296 6319 6383 6385 6390 6391 6392 64409 64581 6470 6472 65078 6515 6646 683 6900 7108 7124 7167 79143 7915 79158 79623 79644 79868 811 8128 81579 8443 847 8604 8605 8807 8867 8930 9126 9197 9388 9415 9487 952 9536 9791 9993	Homo sapiens (human)

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