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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 **1451 - 1475** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110698	hypotrichosis 1 Aliases: Hhs Hts Hypt1 hereditary generalized hypotrichosis simplex	GALNT3 LSS	2591 4047	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0080349	developmental and epileptic encephalopathy 39 Aliases: AGC1 deficiency early infantile epileptic encephalopathy 39 epileptic encephalopathy with global cerebral demyelination	ACAN SLC25A12	176 8604	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1475	lymphangioma Aliases: Congenital lymphangioma benign lymphangioma	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 MAG PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHD	10082 10908 2619 29071 3294 3417 3418 3482 4099 5281 5290 5291 5293 5294 5310 5476 57104 5728 6392 811 8809 8813 929	Homo sapiens (human)	DisGeNET DisGeNET
DOID:2361	macrocytic anemia Aliases: ANEMIA MACROCYTIC Macrocytic anaemia	ABO ACE ACO1 ACSM3 ADH1B AGXT AKR1C4 ALDH2 ALG8 ALOX5 ALPL ARSA B3GLCT CACNA2D3 CALR CAT CD55 CEACAM5 CHI3L1 COG1 COG6 CRPPA CYP1B1 CYP2C8 ECHS1 ENO1 ENPP1 EXT2 FCGR3B FUT1 FUT2 FUT3 G6PC1 G6PC3 G6PD GBA1 GLA GNPTAB GPI GPX1 HK1 HMGCL HPRT1 HPSE ICAM1 IDH1 IDH2 IDUA KL LCAT LIPA LPIN2 MBL2 MMUT MPG NAAA NCAM1 OCRL PARP1 PCCA PCCB PDHA1 PFKM PGAM1 PGK1 PI4KA PIK3CA PKLR PNP PSAP PTEN PTGS2 SCD SDHA SDHB SDHC SFTPA1 SHMT2 SIGLEC1 SLC17A5 SLC39A8 SOAT1 TALDO1 TBXAS1 TMED3 UGCG UGT1A1 UMPS	1048 10855 1109 1116 125 142 145173 1545 1558 1604 1636 189 1892 2023 2132 217 2215 23423 240 249 2523 2524 2525 2538 2539 2629 26503 27163 2717 28 2821 2876 3098 3155 3251 3383 3417 3418 3425 3931 3988 410 4153 4350 4594 4684 48 4860 4952 5095 5096 5160 5167 5213 5223 5230 5290 5297 5313 54658 55799 5660 5728 5743 57511 6296 6319 6389 6390 6391 64116 6472 653509 6614 6646 6888 6916 729920 7357 7372 79053 79158 811 847 92579 9365 9382 9663	Homo sapiens (human)	DisGeNET DisGeNET
DOID:263	kidney cancer Aliases: malignant neoplasm of kidney except pelvis malignant tumour of kidney renal cancer	ABO ACE ACHE ACO2 ACYP2 AKR1C3 ALDH9A1 ALOX5 AMACR ANXA5 APRT CAT CD44 CD74 CEACAM5 CEACAM7 COMT CYP11B1 CYP11B2 CYP17A1 CYP1A1 CYP1B1 CYP3A4 CYP4F3 DHCR24 FASN FH G6PD GLO1 GPX1 HPGDS ICAM1 IDH1 KL L1CAM LDHA LGALS3 ME1 MICA MRC1 NAMPT NT5E OGG1 PDHX PGP PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2R1 PLCG2 PPARGC1A PTEN PTGS2 RGN SDHB SDHD SMUG1 SORD SPHK1 ST6GALNAC6 UGT2B7 VCAM1 VCAN	100507436 10135 1048 1087 10891 1312 1462 1543 1545 1576 1584 1585 1586 1636 1718 2194 223 2271 22925 23583 23600 240 2539 27306 2739 28 283871 2876 308 30815 3383 3417 353 3897 3939 3958 4051 4199 43 4360 4907 4968 50 5290 5291 5293 5294 5310 5315 5336 5728 5743 6390 6392 6652 7364 7412 8050 847 8644 8877 9104 9365 960 972 98	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:1838	Menkes disease Aliases: COPPER TRANSPORT DISEASE Menkes kinky-hair syndrome steely hair syndrome	CD38 PGK1	5230 952	Homo sapiens (human)	DisGeNET
DOID:0110514	autosomal recessive nonsyndromic deafness 62 Aliases: DFNB62 autosomal recessive deafness 62	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:0110136	Bardet-Biedl syndrome 14 Aliases: BBS14	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D Aliases: Alpha-sarcoglycanopathy DMDA2 Duchenne-like autosomal recessive muscular dystrophy type 2 LGMD2D muscular dystrophy, limb-girdle, type 2D primary adhalinopathy	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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:11507	rumination disorder Aliases: Psychogenic rumination	COMT FUT3 IDS	1312 2525 3423	Homo sapiens (human)	DisGeNET
DOID:11100	Q fever Aliases: Infection due to Coxiella burnetii	ACHE ALPI ALPP APRT CS DHCR24 LSS MTAP PTGS2 SMUG1	1431 1718 23583 248 250 353 4047 43 4507 5743	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060345	bacillary angiomatosis	CS	1431	Homo sapiens (human)	DisGeNET
DOID:0110116	autoimmune lymphoproliferative syndrome type 2B Aliases: ALPS with recurrent viral infections ALPS2B CEDS Caspase 8 deficiency Caspase 8 deficiency syndrome Caspase eight deficiency state autoimmune lymphoproliferative syndrome type IIB autoimmune lymphoproliferative syndrome with recurrent viral infections	ACSBG1 ASAH2 CD14 CD22 CD38 CD44 CEL CNTN2 EBP FCER2 FCGR3B FH ICAM1 IL18R1 IL1R1 KLRB1 KLRD1 LGALS1 MLYCD MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC1 SLC27A5 SLC35B2 SMUG1 SOAT1	1056 10682 10998 2208 2215 2271 23205 23417 23583 3383 347734 3554 3820 3824 3956 4360 4684 5290 5291 5293 5294 5315 56624 6382 6646 6900 83666 8809 929 933 952 960	Homo sapiens (human)	DisGeNET
DOID:4791	supratentorial primitive neuroectodermal tumor Aliases: Supratentorial PNET	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)	DisGeNET DisGeNET
DOID:9682	yellow fever Aliases: Sylvatic yellow fever Yellow fever, sylvan jungle yellow fever urban yellow fever	ABO ACHE AGPAT1 AMACR ANXA5 APRT BST2 CAT CD14 CD209 CD33 CD38 CERS1 CHST10 CLEC5A CSPG5 DDOST FASN FCGR3B G6PD GAPDH GOLPH3 HPSE2 HPSE HSD17B6 ICAM1 IL1RL1 KLRC1 LGALS9 MBL2 MGAM MICA MOGS MRC1 NAAA PIK3CA PIK3CB PIK3CD PIK3CG PLCE1 PRKAA2 PRNP PTGS2 SCD SELE SI SIRT6 SLC17A5 SMUG1 SOAT1 SPHK1 SPHK2 STT3B TM7SF2 TPI1 VCAM1	100507436 10554 10675 10715 10855 1650 201595 2194 2215 23583 23600 23601 2539 2597 26503 27163 28 308 30835 3383 353 3821 3965 4153 43 4360 51196 51548 5290 5291 5293 5294 5563 5621 56848 5743 60495 6319 6401 64083 6476 6646 684 7108 7167 7412 7841 847 8630 8877 8972 9173 929 945 9486 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110513	autosomal recessive nonsyndromic deafness 61 Aliases: DFNB61 autosomal recessive deafness 61	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:0080302	mixed sleep apnea Aliases: complex sleep apnea	ACE CYP1A2 CYP2J2 ENOSF1 GNE GNPTAB IDS LGALS3 NANS PTEN PTGS2	10020 1544 1573 1636 3423 3958 54187 55556 5728 5743 79158	Homo sapiens (human)	DisGeNET
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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:10824	malignant hypertension	ACE CYP17A1 CYP1A1 SLC33A1	1543 1586 1636 9197	Homo sapiens (human)	DisGeNET
DOID:9271	ornithine carbamoyltransferase deficiency Aliases: deficiency of citrulline phosphorylase ornithine transcarbamylase deficiency	CYP21A2 GLUL	1589 2752	Homo sapiens (human)	DisGeNET
DOID:11155	hypohidrosis Aliases: Oligohidrosis	ALOX12B CEACAM5 CERS3 COG6 CTNS ELOVL4 FUCA1 GAL3ST1 GLA HEXB NGLY1 SLC35A1 SPTLC2 STS	1048 10559 1497 204219 242 2517 2717 3074 412 55768 57511 6785 9514 9517	Homo sapiens (human)	DisGeNET DisGeNET
DOID:495	sclerosing hemangioma Aliases: Sclerosing haemangioma	KLRK1 MTAP	22914 4507	Homo sapiens (human)	DisGeNET
DOID:9274	hyperlysinemia	GAD1 GCDH HMGCL PC	2571 2639 3155 5091	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0050454	periventricular nodular heterotopia Aliases: periventricular heterotopia	DHCR7 MAN1B1 PAFAH1B1 SMUG1 TMTC3	11253 160418 1717 23583 5048	Homo sapiens (human)	DisGeNET
DOID:1564	fungal infectious disease Aliases: mycosis	CLEC12A CLEC6A CLEC7A CYP51A1 ICAM1 IGF2R IMPA1 MBL2 NCAM1 PFKFB3 PRG2 SMUG1	1595 160364 23583 3383 3482 3612 4153 4684 5209 5553 64581 93978	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources

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