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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 **2201 - 2225** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0080548	Noonan syndrome with multiple lentigines 1 Aliases: LEOPARD syndrome 1	PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:0110279	autosomal recessive limb-girdle muscular dystrophy type 2E Aliases: Beta-sarcoglycanopathy LGMD2E Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency muscular dystrophy, limb-girdle, type 2E	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:0060782	EEC syndrome Aliases: Rudiger syndrome 1 Walker-Clodius syndrome ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome ectrodactyly-ectodermal dysplasia-clefting syndrome	ENO1 LCT MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	2023 3938 4360 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:5375	hair follicle neoplasm Aliases: Hair Matrix neoplasm Hair matrix tumour	MUTYH SDC1	4595 6382	Homo sapiens (human)
DOID:6225	Cronkhite-Canada syndrome Aliases: gastric Cronkhite Canada polyposis polyposis, skin pigmentation, alopecia, and fingernail changes	PTEN	5728	Homo sapiens (human)
DOID:0110716	Warburg micro syndrome 1 Aliases: Micro Syndrome 1 WARBM1	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:3081	cystic lymphangioma Aliases: cystic Hygroma	LPL PIK3CA SLC26A2 TGDS	1836 23483 4023 5290	Homo sapiens (human)
DOID:0110487	autosomal recessive nonsyndromic deafness 29 Aliases: DFNB29 autosomal recessive deafness 29	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:8927	learning disability Aliases: Academic skill disorder learning disorder	ACAT1 ACER3 ACHE ACSL4 ADPRS AGA AGPAT2 AGRN ALDH3A2 ALDH5A1 ALDH7A1 ALDOB ALG11 ALG13 ALG14 ALG2 ALG9 ALOX12B AMT AMY1A AMY1B AMY1C ARSA ARSD ARSI ASAH1 ATP6AP2 ATP6V0A2 ATP6V1A B3GALNT2 B3GALT6 B3GLCT B4GALNT1 BCKDHA BCKDHB CA4 CACNA2D1 CALR CAT CD38 CERS1 CHAT CLN5 CMAS CNTN2 CNTN4 CNTN6 COG5 COG6 COG8 COLEC10 COLEC11 COMT CRPPA CTSA CYB5R3 CYP24A1 CYP27A1 CYP2U1 DAG1 DBT DCN DGCR2 DHCR24 DHCR7 DLD DPAGT1 EBP ENOSF1 EOGT EPM2A EXT1 EXT2 EXTL3 FASN FBP1 FCN2 FCSK FDFT1 FKRP FKTN FUCA1 FUT8 G6PC3 G6PD GAD1 GALT GAS1 GBA2 GBE1 GCK GCSH GGT1 GK GLB1 GLDC GLYCTK GMPPA GMPPB GNPAT GNPTAB GNS GPAA1 GPC3 GPC6 GPD2 GPI GUSB HACD1 HADH HADHA HADHB HEXA HGSNAT HK1 HMGCL HPRT1 HS6ST2 HSD17B12 IDH1 IDH2 IDH3A IDH3B IDS IDUA IL1RAP IL1RAPL1 IMPA1 INPP5E INPP5K KDSR KL L1CAM L2HGDH LARGE1 LDHA LDHD LFNG LSS MACROD2 MAG MAN1B1 MAN2B1 MAN2C1 MANBA MASP1 MBOAT7 MMUT NAGA NAGLU NANS NDST1 NEU1 NSDHL NTNG1 OCRL OGT PAFAH1B1 PAFAH1B3 PAPSS2 PARP1 PC PCCA PCCB PCYT1A PDHA1 PDHX PDIA3 PGAP1 PGAP2 PGAP3 PGK1 PGM3 PIGA PIGB PIGC PIGG PIGL PIGN PIGO PIGP PIGQ PIGU PIGV PIGW PIK3CA PIK3CB PIK3CD PIK3CG PLCH2 PMM2 PNP PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPT1 PRPS1 PTDSS1 PTEN RENBP RXYLT1 SC5D SDHA SDHB SDHC SDHD SGSH SLC17A5 SLC2A10 SLC33A1 SLC35A1 SLC35A2 SLC35A3 SLC39A8 SMC3 SRD5A3 ST3GAL3 ST3GAL5 STS STT3B SUCLG1 SULT1E1 SUMF1 SYNJ1 TECR TKT TMTC3 TNFRSF10C TPI1 TUSC3 TYMP UGCG UMPS XYLT1 XYLT2	10082 10159 10329 10466 10555 10559 10584 10585 10682 10715 10908 1103 11141 11253 113612 1203 126792 128869 1312 132158 138050 140733 142 145173 148789 152330 1591 1593 160418 1605 1629 1634 1717 1718 1727 1738 175 1798 1890 197257 197258 199857 201595 2131 2132 2137 2182 2194 2203 2218 2220 2222 224 22854 229 23443 23545 23556 242 2517 2530 2531 2539 2571 2583 2592 2619 2632 2645 26503 2653 2678 2710 2719 2720 27255 2731 27315 275 276 277 278 2799 2820 2821 284098 285203 285362 2923 2990 29925 29926 29954 3030 3032 3033 3073 3098 3155 3251 3340 340075 3417 3418 3419 3420 3423 3425 3556 3612 375790 38 3897 3939 3955 4047 4099 410 412 4123 4125 4126 414 427 43 440138 4594 4668 4669 4758 4860 4952 501 5048 5050 50814 5091 5095 5096 51144 51227 5130 5160 51763 523 5230 5238 5277 5279 5290 5291 5293 5294 5373 54187 5476 54872 54936 55331 5538 55556 55624 55650 55907 5631 5648 56623 5728 57511 57704 593 594 5973 6309 6389 6390 6391 6392 64116 64131 64132 6448 6487 6783 6900 7086 7167 729920 7355 7357 7372 762 781 78989 79143 79147 7915 79158 7957 79644 79796 79868 7991 79944 80055 8050 81031 811 84197 84342 8443 847 84720 8473 84892 85365 8733 8794 8802 8867 8869 90161 9060 9091 9126 9197 9200 9215 92579 93210 9365 9487 9488 952 9524 9651 9791 9993	Homo sapiens (human)
DOID:950	dacryoadenitis	ICAM1 LYZ	3383 4069	Homo sapiens (human)
DOID:0111277	mitochondrial trifunctional protein deficiency Aliases: MTPD TFP deficiency TFPD	ACADVL CPT1A CPT2 DHDDS EHHADH GBE1 HADH HADHA HADHB PTEN	1374 1376 1962 2632 3030 3032 3033 37 5728 79947	Homo sapiens (human)
DOID:3118	hepatobiliary disease Aliases: liver and biliary tract disease	AKR1B1	231	Homo sapiens (human)
DOID:26	pancreas disease	ACE ALDH2 CEL CYP2E1 MSLN PLA2G2A PRPS1 PTEN	10232 1056 1571 1636 217 5320 5631 5728	Homo sapiens (human)
DOID:0060058	lymphoma Aliases: lymphoid cancer	ABO ACAA1 ACACA ACE ACOX1 ACSBG1 ACSF3 AKR1A1 AKR1C1 AKR1C3 ALG1 ALOX12 ALPI ALPP AMT ANXA5 APRT ATRNL1 CALR CANX CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD55 CD74 CDH13 CEL CFC1 CHPT1 CLEC10A CNTN2 COMT CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP3A4 DHDDS ENO2 ENOSF1 EPHX2 EPM2A FCER2 FCGR3B FCN2 FH FMOD G6PD GBA1 GCSH GGT1 GLB1 GPC5 GPI GPX1 HEXA HK2 HMMR HPGDS HPRT1 HPSE HYAL2 ICAM1 IDH1 IDH2 IL1R1 IL1RL1 INPP4B INPP5D ISYNA1 KLRC1 KLRD1 KLRK1 LDHA LGALS1 LGALS3 LGALS9 LY6K MASP2 MBL2 MCAT MLYCD MRC1 MTAP NAMPT NCAM1 NDUFAB1 NTHL1 OGG1 OPCML PAFAH1B1 PAFAH1B2 PARP1 PARP4 PARP9 PC PGM3 PGP PIGK PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 PLD2 PLOD3 PNP PPP1R3A PTEN PTGDS PTGES PTGS2 RTN4R SDC1 SELE SELL SHMT1 SHMT2 SLC27A5 SLC2A3 SLC35A2 SLC35B2 SMC3 SMUG1 SOAT1 SPHK2 ST6GALNAC5 STS SULT1E1 TIGAR TKTL1 TMEM260 TMTC3 TNFRSF10C UNG VCAM1 VTCN1	10026 1012 10135 10327 10462 1056 10747 10855 10998 1312 142 143 1543 1545 1555 1559 1571 1576 1586 1591 1594 1604 160418 1636 1645 197322 2026 2053 2208 2215 2220 2262 2271 22914 23205 2331 23417 23583 239 248 250 2539 26033 2629 2653 2678 2720 27306 27349 275 28 2821 283871 2876 30 3073 308 3099 31 3161 3251 3383 3417 3418 347734 353 3554 3635 3821 3824 3939 3956 3958 3965 412 4153 4360 4507 4684 4706 4860 4913 4968 4978 5048 5049 5091 51 51477 5238 5290 5291 5293 5294 5336 5338 54742 54916 5506 55556 55997 56052 56848 56994 57103 5728 5730 5743 6382 6401 6402 6470 6472 65078 6515 6646 6783 6900 7355 7374 7412 7957 79679 79947 811 81849 821 8277 83666 847 8644 8692 8794 8821 8985 912 9126 9173 929 933 945 952 9536 960 962 972	Homo sapiens (human)
DOID:0070300	multiple epiphyseal dysplasia 4 Aliases: EDM4 MED4 Polyepiphyseal dysplasia type 4 multiple epiphyseal dysplasia with bilateral patellae multiple epiphyseal dysplasia with clubfoot rMED	SLC26A2	1836	Homo sapiens (human)
DOID:4540	dysgraphia	PIK3CA	5290	Homo sapiens (human)
DOID:0080600	COVID-19 Aliases: 2019 Novel Coronavirus (2019-nCoV) 2019-nCoV infection COVID19 SARS-CoV-2 infection Wuhan coronavirus infection Wuhan seafood market pneumonia virus infection	ABO ACE BDH1 IL1R1 LGALS3 SELE TNF	1636 28 3554 3958 622 6401 7124	Homo sapiens (human)
DOID:1882	atrial heart septal defect Aliases: atrial septal defect atrioseptal defect auricular septal defect congenital atrial septal defect interatrial septal defect interauricular septal defect	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)
DOID:146	papilledema	CD38 ENO2 IDS SHMT1	2026 3423 6470 952	Homo sapiens (human)
DOID:14174	central neurocytoma Aliases: Neurolipocytoma	IDH1	3417	Homo sapiens (human)
DOID:3756	protein C 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:0110113	atrial heart septal defect 8 Aliases: ASD8 atrial septal defect 8	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)
DOID:10772	thrombotic thrombocytopenic purpura Aliases: Moschcowitz's syndrome	ABO ACSS2 CD248 CD55 CLEC1B DGKE GPI PIGA PIK3CB PLA2G15 PTGS2	1604 23659 28 2821 51266 5277 5291 55902 57124 5743 8526	Homo sapiens (human)
DOID:1756	facial nerve disease	ACADS ACSL4 AGRN ALG13 ALG14 ALG2 ASAH1 CHKB DPAGT1 FKRP GFPT1 GMPPB GNE HPGDS IL1RAPL1 LARGE1 MTM1 MTMR14 MTMR2 POMT1 POMT2 PTDSS1 SMUG1	10020 10585 11141 1120 1798 199857 2182 23583 2673 27306 29925 29954 35 375790 427 4534 64419 79147 79868 85365 8898 9215 9791	Homo sapiens (human)
DOID:9476	Sheehan syndrome Aliases: Postpartum Hypopituitarism Sheehan's syndrome	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)

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