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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 **4451 - 4475** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:2351	iron metabolism disease Aliases: disorder of iron metabolism iron disorder	ACACA ACE ACO1 AKR1D1 ALPP ANXA5 ARSA ATRNL1 CALR CAT CCDC115 CYP27B1 G6PD GALNS GLUL GNPAT GPX1 HJV IL1R1 NDUFAB1 PNPLA3 PRNP SLC17A5 SLC39A8 SMPD1 VCAM1	148738 1594 1636 250 2539 2588 26033 26503 2752 2876 308 31 3554 410 4706 48 5621 64116 6609 6718 7412 80339 811 84317 8443 847	Homo sapiens (human)
DOID:11656	cicatricial pemphigoid Aliases: Cicatricial pemphigoid with ocular involvement Ocular pemphigoid benign mucous membrane pemphigoid benign mucous membrane pemphigoid with ocular involvement ocular pemphigus	AKR1C3 TNF	7124 8644	Homo sapiens (human)
DOID:654	overnutrition	ACHE ECHS1 GPAM LPL MOGAT1 PRKAA2	116255 1892 4023 43 5563 57678	Homo sapiens (human)
DOID:0110512	autosomal recessive nonsyndromic deafness 6 Aliases: DFNB6 autosomal recessive deafness 6	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:934	viral infectious disease Aliases: Viral Infection Viral disease virus infection	ABO ACACA ACACB ACE ACHE ACOD1 ACOT7 ACSBG1 AGPAT1 AKR1A1 AKR1C4 ALDH2 ALOX5 AMACR ANXA5 APRT ASAH1 ATP6AP2 B3GAT1 BST2 CALR CAT CD14 CD1D CD209 CD33 CD38 CD44 CD48 CD74 CEACAM5 CERS1 CHST10 CLEC10A CLEC1B CLEC5A CLEC9A COLEC11 CPT2 CSPG5 CYP2B6 CYP4F3 DDOST DLD ENPP1 FASN FBP1 FCGR3B FCN2 FUT2 G6PD GALNT3 GAPDH GGT1 GLB1 GLDC GOLPH3 GPC3 GPI HACD1 HK2 HPSE2 HPSE HSD17B6 ICAM1 IGF2R IL1RL1 INPP5D INPP5E ISYNA1 KLRB1 KLRC1 KLRK1 LDHA LGALS1 LGALS3 LGALS8 LGALS9 LY75 MASP2 MBL2 MGAM MICA MOGS MRC1 NAAA NAGLU NCAM1 OGDH PARP11 PARP12 PARP1 PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G6 PLAUR PLCB2 PLCE1 PNPLA3 PNPLA6 PRKAA2 PRNP PSMD10 PTEN PTGS1 PTGS2 RECK SCD SELE SFTPA1 SFTPD SI SIGLEC1 SIRT6 SLC17A5 SLC2A2 SLC35A1 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 STT3B TALDO1 TM7SF2 TPI1 VCAM1 XYLT2	100507436 10159 10327 10462 1048 10554 10559 10675 10715 10747 10855 10908 1109 11332 1376 142 1555 1636 1650 1738 201595 217 2194 2203 2215 2220 22914 23205 23583 23600 23601 240 2524 2539 2591 2597 26503 2678 27087 27163 2719 2720 2731 28 2821 283420 308 30835 3099 31 32 3383 3482 353 3635 3820 3821 3939 3956 3958 3964 3965 4051 4065 4153 427 43 4360 4669 4684 4967 5106 51196 51266 51477 51548 5167 5290 5291 5293 5294 5315 5329 5330 5563 5621 56623 56848 57097 5716 5728 5742 5743 60495 6319 6401 64083 64132 6441 6476 64761 6514 653509 6609 6614 6646 684 6888 7108 7167 730249 7412 7841 78989 80339 811 8398 8434 847 8630 8877 8972 912 9173 9200 929 945 9486 952 960 962 972	Homo sapiens (human)
DOID:5213	chronic inflammatory demyelinating polyradiculoneuropathy	CNTN1 CNTN2 GBE1 HPRT1 MAG PTGS2	1272 2632 3251 4099 5743 6900	Homo sapiens (human)
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	pomgnt1	100158594	Xenopus tropicalis (tropical clawed frog)
DOID:12803	Sly syndrome Aliases: MPS VII - Sly syndrome beta-glucuronidase deficiency deficiency of beta-glucuronidase mucopolysaccharidosis VII	Gusb	110006	Mus musculus (house mouse)
DOID:9538	multiple myeloma Aliases: myeloma	CTS2 HXK1 HXK2	850614 851977 852639	Saccharomyces cerevisiae S288C
DOID:3328	temporal lobe epilepsy Aliases: epilepsy, temporal lobe	Pgf	94203	Rattus norvegicus (Norway rat)
DOID:6933	bladder transitional cell papilloma Aliases: Urothelial papilloma bladder papilloma transitional cell papilloma of bladder urinary bladder Urothelial papilloma	OGG1	4968	Homo sapiens (human)
DOID:0110758	type 1 diabetes mellitus 21 Aliases: IDDM21 Insulin-Dependent Diabetes Mellitus 21	ABO ACAN ACE ACOT7 ACSL1 ADH5 AGA AGPAT1 AKR1A1 AKR1B1 ALDH2 ALDH3A2 ALOX12 ALOX15B ALOX5 AMY2A ANXA5 APRT B3GAT1 B4GALNT1 B4GALT1 BAAT CAT CBR1 CD14 CD1D CD209 CD38 CD44 CD48 CD74 CDH13 CEACAM5 CEPT1 CHAT CHST3 CLEC16A CSGALNACT1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2E1 CYP2R1 CYP7A1 DCN DDOST DGCR2 DHCR7 DLAT EFNA1 ENO2 ENPP1 FASN FCER2 FCGR3B FCN2 FKRP FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNT3 GBA3 GCK GLA GLB1 GLO1 GLUL GPI GPX1 GPX3 GYS1 HK1 HK2 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HSD11B1 HSD11B2 HSD17B4 HSPG2 ICAM1 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPPL1 IPPK ISYNA1 KL KLRC3 KLRD1 LDHC LGALS1 LGALS3 LIPC LPL LY6G6D LYPD5 MASP2 MBL2 MGAT1 MGAT5 MICA MIOX NAAA NAMPT NCAM1 OGA PARP1 PDHX PFKFB3 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2C PLA2G6 PLA2G7 PNPLA3 PRKAA2 PRKCSH PTEN PTGS2 REG1B RENBP SCD SDC2 SELE SELL SELP SIRT2 SIRT6 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A8 SLC35A1 SLC35G1 SLC37A4 SLC5A1 SOAT1 ST3GAL4 SULT1E1 TKT TM7SF2 UGT1A1 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	100507436 1012 10135 10327 10390 1048 10554 10559 10724 10747 10855 1103 11332 120227 128 142 1462 154091 1571 1581 1589 1591 1593 159371 1594 1634 1636 1650 1717 1737 175 176 1942 2026 217 2180 2194 2208 2215 2220 224 22933 231 23274 239 240 247 2524 2538 2539 2542 2571 2572 2583 2591 2645 2683 27087 27163 2717 2720 27306 2739 2752 279 28 2821 283871 284348 2876 2878 2997 29988 308 30835 3098 3099 3158 3251 3290 3291 3295 3339 3383 3482 353 3554 3635 3636 3823 3824 3948 3956 3958 3990 4023 4153 4245 4249 4684 51477 51548 5167 5209 5236 5290 5291 5293 5294 54658 55586 5563 55790 5589 570 5728 5743 57733 57818 58530 5968 5973 60495 6319 6383 6401 6402 6403 64131 64132 64768 6484 6514 6515 6517 6523 6646 6783 7086 7108 7369 7412 79147 7941 79679 79837 80339 8050 8398 847 873 8807 8809 912 9173 929 9365 9469 9514 952 960 962 972 9993	Homo sapiens (human)
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	pigb.L pigb.S	108711378 734564	Xenopus laevis (African clawed frog)
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	pofut1.L	398423	Xenopus laevis (African clawed frog)
DOID:2451	protein S deficiency Aliases: Protein S deficiency disease	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:2280	hidradenitis suppurativa Aliases: Acne inversa, familial	ANXA5 CHI3L1 CYP4F3 ELOVL7 IDH1 IDH2 IDH3B IL1RL2 KLRB1 SULT1E1 TNF	1116 308 3417 3418 3420 3820 4051 6783 7124 79993 8808	Homo sapiens (human)
DOID:0060299	complement component 6 deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	Homo sapiens (human)
DOID:4752	multiple system atrophy Aliases: Shy-Drager syndrome	ACE COQ2 CYP11B2 ELOVL7 HEXB ICAM1 IGF2 OLR1 PAFAH1B1 PRNP	1585 1636 27235 3074 3383 3481 4973 5048 5621 79993	Homo sapiens (human)
DOID:3996	urinary system cancer	ACE ACSS2 CEACAM5 CEACAM7 COMT OGG1 PLA2G15	1048 1087 1312 1636 23659 4968 55902	Homo sapiens (human)
DOID:11541	recurrent corneal erosion Aliases: recurrent erosion of cornea recurrent erosion syndrome	ASAH1 B3GALNT2 B3GLCT B4GAT1 CHST6 CRPPA CTNS CTSA CYP1B1 DAG1 FKRP FKTN FUCA1 GLA GLB1 GUSB IDUA KDSR LARGE1 LCAT MYORG NEU1 NGLY1 OCRL PIGL PIGN POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SRD5A3 STS SUMF1	10329 10585 11041 145173 148789 1497 1545 1605 2218 23556 2517 2531 2717 2720 285362 2990 29954 3425 3931 412 4166 427 4758 4952 5476 55624 55768 57462 729920 79147 79644 84197 84892 9215 9487	Homo sapiens (human)
DOID:0080351	CLOVES syndrome Aliases: congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Pik3ca	170911	Rattus norvegicus (Norway rat)
DOID:2747	glycogen storage disease Aliases: glycogenosis	gyg1a gyg1b gys2	373082 406831 415152	Danio rerio (zebrafish)
DOID:0111037	glycine N-methyltransferase deficiency Aliases: GNMT deficiency hypermethioninemia due to GNMT deficiency hypermethioninemia due to glycine N-methyltransferase deficiency	GNMT	27232	Homo sapiens (human)
DOID:2746	glycogen storage disease V Aliases: Glycogen storage disease 5 Glycogen storage disease, type V McArdle's disease glycogen storage disease type V myophosphorylase deficiency	Glyp	33386	Drosophila melanogaster (fruit fly)
DOID:0060643	primary sclerosing cholangitis	Tnf	24835	Rattus norvegicus (Norway rat)

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