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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1726 - 1750** of **4621** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism
DOID:0111330	combined saposin deficiency Aliases: PSAPD combined SAP deficiency encephalopathy due to prosaposin deficiency	ASAH1 PSAP	427 5660	Homo sapiens (human)
DOID:4137	common bile duct disease	SLC25A12 SLC25A13	10165 8604	Homo sapiens (human)
DOID:4608	common bile duct neoplasm Aliases: neoplasm of common bile duct	MSLN MTAP TYMP	10232 1890 4507	Homo sapiens (human)
DOID:10459	common cold Aliases: Acute viral rhinopharyngitis Nasopharyngitis - acute Nasopharyngitis, acute acute coryza acute nasopharyngitis acute rhinitis rhino-sinusitis	ALOX5 CD14 CYP2C19 G6PD GPI HACD1 ICAM1 LYZ MBL2 PLAAT3 SDHD SELP SIGLEC1 SLC17A5	11145 1557 240 2539 26503 2821 3383 4069 4153 6392 6403 6614 9200 929	Homo sapiens (human)
DOID:12177	common variable immunodeficiency Aliases: CVID acquired agammaglobulinemia acquired hypogammaglobulinemia common variable agammaglobulinemia sporadic hypogammaglobulinemia	CD14 CD1D CD38 CDH13 CHIT1 CLEC16A DAG1 FCGR3B FCN2 FUT2 IL18R1 MBL2 MRC1 NCAM1 NEIL1 PIK3CD SDC1 SMUG1	1012 1118 1605 2215 2220 23274 23583 2524 4153 4360 4684 5293 6382 79661 8809 912 929 952	Homo sapiens (human)
DOID:11165	common wart	ADH1C AGA AKR1C1 AMACR ANXA5 B3GNT3 CALR CEMIP CYP1A1 CYP1B1 ENO1 FCN3 G6PD GGT1 GLB1 HPGDS IDUA KLRD1 LPIN1 LYPD5 MBL2 MICA MPG MRC1 MUTYH NT5E OGG1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PLCE1 PNPLA2 PRNP PTEN PTGS2 SDC1 SELE SMUG1 STS VTCN1	100507436 10331 126 142 1543 1545 1645 175 2023 23175 23583 23600 23761 2539 2678 2720 27306 284348 308 3425 3824 412 4153 4350 4360 4595 4907 4968 51196 5290 5291 5293 5294 5621 57104 57214 5728 5743 6382 6401 79679 811 8547	Homo sapiens (human)
DOID:1573	communicating hydrocephalus	ACSM3 ARSB B3GALNT2 B3GAT3 B3GLCT B4GAT1 CHST3 CNTN5 CNTN6 COMT CRPPA DAG1 DHCR24 EBP EOGT FIG4 FKRP FKTN GALC GBA1 GLDC GMPPB GPC3 GUSB IDS IDUA INPP5E L1CAM LARGE1 MBOAT7 MTM1 NANS NT5E OGDH PAFAH1B1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG POMGNT1 POMGNT2 POMK POMT1 POMT2 PTDSS1 PTEN RXYLT1 SFTPA1 SFTPA2 SFTPC SFTPD SLC17A5 SUMF1 UGCG	10329 10585 10682 11041 1312 145173 148789 1605 1718 2218 2581 26229 2629 26503 2719 27255 2731 285203 285362 2990 29925 29954 3423 3425 3897 411 4534 4907 4967 5048 5160 5290 5291 5293 5294 53942 54187 55624 56623 5728 6296 6440 6441 653509 729238 729920 7357 79143 79147 84197 84892 9215 9469 9791 9896	Homo sapiens (human)
DOID:2033	communication disorder	ARSD DLD GPD2 PPP1R3A PRPS1 PTEN STS	1738 2820 412 414 5506 5631 5728	Homo sapiens (human)
DOID:682	compartment syndrome Aliases: Compartmental syndrome	MAG	4099	Homo sapiens (human)
DOID:0060295	complement component 2 deficiency	ACADVL ACE CALR CD55 CYP21A2 FCN3 MASP2 MBL2 OTOA	10747 146183 1589 1604 1636 37 4153 811 8547	Homo sapiens (human)
DOID:0060297	complement component 4a deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	Homo sapiens (human)
DOID:0060298	complement component 4b deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	Homo sapiens (human)
DOID:0060299	complement component 6 deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	Homo sapiens (human)
DOID:0060300	complement component 7 deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	Homo sapiens (human)
DOID:0060303	complement component 9 deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	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:0090137	complex cortical dysplasia with other brain malformations 1 Aliases: CDCBM1 cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:0090132	complex cortical dysplasia with other brain malformations 7 Aliases: CDCBM7 polymicrogyria due to TUBB2B mutation	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:12382	complex partial epilepsy Aliases: Complex partial epileptic seizure epilepsy, psychomotor psychomotor epilepsy	ACE ACOT7 ENO2 EPHX2 GAD1 GAD2 GLUL ICAM1 MGAT1 MICA PLD1 PLD2 PRNP PTGS2 RGMA SC5D SEMA7A SMUG1	100507436 11332 1636 2026 2053 23583 2571 2572 2752 3383 4245 5337 5338 5621 56963 5743 6309 8482	Homo sapiens (human)
DOID:3223	complex regional pain syndrome Aliases: Complex regional pain syndromes	B3GAT1 IL1R1	27087 3554	Homo sapiens (human)
DOID:12995	conduct disorder	ALDH2 ARSD BST2 COMT DGKK EFNA5 EXT1 G6PD GLDC	1312 139189 1946 2131 217 2539 2731 414 684	Homo sapiens (human)
DOID:0050795	cone dystrophy Aliases: retinal cone dystrophy	CACNA2D4	93589	Homo sapiens (human)
DOID:0111005	cone-rod dystrophy 2 Aliases: CORD2 CRD2 RCRD2 cone-rod retinal dystrophy 2 retinal cone-rod dystrophy 2	ALOX12 CACNA2D4 CD38 CNTN3 CNTN6 CYP19A1 ELOVL4 GAL3ST1 H6PD HSD11B1 LGALS1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN RGMA SIGLEC7 SLC35A1 SOAT1	10559 1588 239 27036 27255 3290 3956 5067 5290 5291 5293 5294 56963 5728 6646 6785 93589 9514 952 9563	Homo sapiens (human)
DOID:0111012	cone-rod dystrophy 7 Aliases: CORD7	ELOVL4	6785	Homo sapiens (human)
DOID:0050572	cone-rod dystrophy Aliases: cone-rod retinal dystrophy	ABO ACE ACOX1 ADH7 ALDH3A2 ALDH7A1 ALG12 ALOX12 AMACR ARSI CA4 CACNA2D4 CANX CD38 CD44 CD48 CD74 CNTN3 CNTN6 COG4 CTNS CYP19A1 DGKE DHDDS ECHS1 ELOVL4 ELOVL6 FASN FKRP G6PD GAL3ST1 GK GLO1 GMPPB GNPTG H6PD HADH HADHA HADHB HGSNAT HK1 HK2 HKDC1 HSD11B1 HSD17B6 IDH2 IDH3A IDH3B IMPA1 KL LARGE1 LGALS1 LPCAT1 MDH1 NAGLU NGLY1 NYX PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 PNPLA6 POMGNT1 POMT1 POMT2 PRNP PTEN RGMA RPE SDHA SDHB SDHD SFTPD SGSH SIGLEC7 SLC35A1 SMC3 SOAT1 SYNJ1 TMED3	10559 10585 10908 131 138050 1497 1588 1636 1892 2194 224 23423 23600 239 2539 25839 27036 2710 27255 2739 28 29925 29954 3030 3032 3033 3098 3099 3290 340075 3418 3419 3420 3612 3956 4190 4669 501 5067 51 5160 5290 5291 5293 5294 5373 55624 55768 5621 56963 57104 5728 60506 6120 6389 6390 6392 6441 6448 6646 6785 762 79071 79087 79147 79888 79947 80201 821 84572 8526 8630 8867 9126 9215 93589 9365 9514 952 9563 960 962 972	Homo sapiens (human)

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