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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 **2851 - 2875** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
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)	DisGeNET
DOID:0111670	primary hyperoxaluria type 1 Aliases: HP1 alanine-glyoxylate aminotransferase deficiency glycolic aciduria hepatic AGT deficiency oxalosis I peroxisomal alanine-glyoxylate aminotransferase deficiency serine pyruvate aminotransferase deficiency	AGXT	189	Homo sapiens (human)	Alliance of Genome Resources
DOID:6951	telangiectatic osteogenic sarcoma Aliases: Telangiectatic osteosarcoma	IDH2	3418	Homo sapiens (human)	DisGeNET
DOID:3390	palmoplantar keratosis Aliases: Keratosis palmaris et plantaris Palmoplantar Keratoderma palmo-plantar keratodermas	ALOX12B CERS3 COG6 DOLK ENPP1 FKTN GMPPA KDSR MMUT PIGL PIGO PIK3CA PTEN SDHA SDHB SDHC SDHD SRD5A3	204219 2218 22845 242 2531 29926 4594 5167 5290 5728 57511 6389 6390 6391 6392 79644 84720 9487	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:10588	adrenoleukodystrophy Aliases: ALD Bronze Schilder disease Encephalitis periaxialis concentrica Encephalitis periaxialis, Schilder's Siemerling-Creutzfeldt Disease X-linked adrenoleukodystrophy diffuse sclerosis sudanophilic cerebral sclerosis	ACE ACHE ACSBG1 ACSBG2 ADH1C ADH5 AKR1A1 AKR1B1 ALDH2 ALDH7A1 APRT ARSB CD14 CD1D CD38 CD44 CH25H CHAT CHI3L1 CHIT1 CHKB CHST3 COLGALT1 COMT CPT1B CYP1A2 CYP21A2 CYP2B6 CYP2C9 CYP2E1 CYP3A4 CYP4F2 DLAT EBP ECHS1 ELOVL1 ELOVL7 EPM2A FUT1 G6PD GAD2 GALNT14 GGT1 GLB1 GLUL GPAT2 GPC5 HADH HADHB HPGDS HS6ST3 HSD11B1 HSD17B4 HSPG2 ICAM1 IDH2 IDS IDUA L1CAM LPIN1 MAG MBL2 MBOAT2 MBOAT7 MDGA2 MGAT1 MGLL NAMPT NCAM1 NCAN NDST3 NYX PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2R1 PLB1 PNPLA3 PRKAA2 PRNP PTEN RTN4R SGSH SIRT6 SLC17A5 SLC27A5 SPHK1 SPHK2 ST8SIA4 SUMF1	10135 10327 10682 10998 1103 1116 1118 1120 11343 126 128 129642 1312 1375 142 1463 150763 151056 1544 1555 1559 1571 1576 1589 161357 1636 1737 1892 217 2262 22925 231 23175 23205 2523 2539 2572 26503 266722 2678 2720 27306 2752 285362 3032 3033 3290 3295 3339 3383 3418 3423 3425 353 3897 4099 411 4153 4245 43 4684 501 51548 5290 5291 5293 5294 5563 5621 56848 5728 60506 6448 64834 65078 7903 79143 7957 79623 79709 79993 80339 81616 8529 8877 9023 912 929 9348 9469 952 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:14498	lipoid proteinosis Aliases: Lipid proteinosis URBACH-WIETHE DISEASE	SFTPC	6440	Homo sapiens (human)	DisGeNET
DOID:0050445	X-linked dominant hypophosphatemic rickets Aliases: Hypophosphatemia, Vitamin D-Resistant Rickets Vitamin D-Resistant Rickets, X-Linked X-linked hypophosphatemia hypophosphatemic rickets X-linked dominant	CYP24A1 CYP27B1 ENPP1 KL L1CAM SFTPA1 SLC2A2	1591 1594 3897 5167 6514 653509 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110765	hereditary spastic paraplegia 12 Aliases: SPG12 autosomal dominant spastic paraplegia 12 autosomal dominant spastic paraplegia type 12	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)	DisGeNET
DOID:0110304	autosomal dominant limb-girdle muscular dystrophy type 2 Aliases: LGMD1F autosomal dominant limb-girdle muscular dystrophy type 1F muscular dystrophy limb-girdle type 1F	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
DOID:0110281	autosomal recessive limb-girdle muscular dystrophy type 2G Aliases: LGMD2G limb-girdle muscular dystrophy due to telethonin deficiency muscular dystrophy, limb-girdle, type 2G	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
DOID:10976	membranous glomerulonephritis Aliases: membranous nephropathy	ACE AKR1B1 CNTN1 CYP21A2 CYP3A5 ENO1 EXT1 EXT2 FCGR3B GAA GAPDH HPGDS HPSE HSPG2 MBL2 MLYCD OGA PLA2G12B PLA2G1B PLA2G2A PLA2G6 PLA2R1 PLB1 PPT2 SDC2 TBXAS1 VTCN1	10724 10855 1272 151056 1577 1589 1636 2023 2131 2132 2215 22925 231 23417 2548 2597 27306 3339 4153 5319 5320 6383 6916 79679 8398 84647 9374	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:5289	uterus leiomyosarcoma Aliases: leiomyosarcoma of Corpus Uteri	CBR1 CD38 FH PIK3CA PTEN SDC1 SMUG1	2271 23583 5290 5728 6382 873 952	Homo sapiens (human)	DisGeNET
DOID:0080037	Worth syndrome Aliases: Worth's syndrome autosomal dominant endosteal hyperostosis autosomal dominant osteosclerosis benign form of Worth hyperostosis corticalis generalisata with torus platinus	LRP5	4041	Homo sapiens (human)	Alliance of Genome Resources
DOID:10325	silicosis Aliases: Pneumoconiosis due to silicates Silica pneumoconiosis Silicotic fibrosis of lung silicotuberculosis	ACE CD44 CHIA CPM PTEN PTGS2 SDC2 SELL SFTPD TM7SF2 TNF	1368 1636 27159 5728 5743 6383 6402 6441 7108 7124 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060224	atrial fibrillation Aliases: A-fib AFib	ABO ACADL ACE ACOT7 ACSS2 ADH1B AGPAT2 AKR1A1 ALDH2 AMACR ANXA4 ASAH1 ATP6AP2 CACNA2D1 CACNA2D4 CALR CAT CD14 CD44 CD55 CHAT CHGA CHI3L1 CNTN2 CNTN5 COG2 COG5 COL9A2 CPM CYP11B2 CYP1A2 CYP2C19 CYP2C9 CYP2J2 CYP3A4 CYP3A5 CYP4F2 DGKB DLD EFNA5 ENO2 EPHX2 FADS1 FADS2 FCGR3B GGT1 GLA GPD1L HSD11B1 HSD11B2 HSPG2 ICAM1 INPP5D INPPL1 ISYNA1 ITPK1 KCNQ1 KL LCAT LGALS3 LIPC NANS OLR1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G15 PLA2G7 PLCG1 PPP1R3A PRSS21 PTGS2 RECK RENBP RGMB RPE SELE SELP SLC2A3 SLC33A1 SLC35F1 SLC35G1 SLC39A8 SMPD1 SMUG1 SOAT1 STS SULT1E1 TLR2 TNF UST VCAM1 XXYLT1	10090 10159 10327 10466 10555 10942 1103 1113 1116 11332 125 1298 1368 142 152002 1544 1557 1559 1573 1576 1577 1585 159371 1604 1607 1636 1738 1946 2026 2053 217 2215 222553 22796 23171 23583 23600 23659 2678 2717 28 285704 307 3290 3291 33 3339 3383 3635 3636 3705 3784 3931 3958 3990 3992 412 427 4973 5130 51477 5290 5291 5293 5294 5311 5335 53942 54187 5506 55902 5743 5973 6120 6401 6403 64116 6515 6609 6646 6783 6900 7097 7124 7412 781 7941 811 8434 847 8529 9197 929 93589 9365 9415 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:631	fibromyalgia	ACADL ACE ACHE APRT CALR CAT CD22 CNTN3 COMT CPT2 CRPPA DSE ENO1 ENO3 ENPP2 EXT1 FKRP FKTN FMOD FOLR2 GLA GOLPH3 GPX1 HADHA HADHB HPGDS HSD11B1 HSPG2 KLRC1 KLRD1 L1CAM LALBA LDHA LGALS8 LPIN1 LPIN2 NT5E PCYT1A PIGT PIK3C2A PNPLA2 POMT1 PRKAA2 PTGS2 SELL SLC17A5 VCAM1	10585 1312 1376 1636 2023 2027 2131 2218 23175 2331 2350 26503 2717 27306 2876 29940 3030 3032 3290 33 3339 353 3821 3824 3897 3906 3939 3964 43 4907 5067 5130 51604 5168 5286 5563 57104 5743 6402 64083 729920 7412 79147 811 847 933 9663	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	B4GALT7	11285	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:13739	nutmeg liver Aliases: chronic passive congestion of liver	ABO ACACB ACADS ACAT1 ACAT2 ACE ACHE ACSS2 ADH1C AKR1A1 AKR1B1 ALDH2 ALOX15B ALOX5 ALPL ANXA5 APRT ARSA ASGR1 CAT CD14 CD44 CDH13 CEL CHI3L1 CHIT1 CLEC1B CLEC7A COMT CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP27A1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP3A5 CYP4A11 CYP4F2 CYP7A1 DHCR7 EBP EFNA5 ENPP1 EPHX2 EXTL3 FADS1 FADS2 FCGR3B FDPS FUT3 GALNT2 GALNT3 GCK GGT1 GLO1 GLUL GPD1L GPIHBP1 GPLD1 GPX1 GPX3 HPGDS HPSE2 HPSE HSD11B1 HSPG2 ICAM1 IL1RL1 ISYNA1 ITLN1 KL LCAT LGALS2 LGALS3 LIPA LIPC LIPG LMAN1 LPCAT3 LPL MBL2 MCFD2 MGAM MPI MTAP NAMPT NCAM1 NDST4 NDUFAB1 NT5E OGG1 OLR1 OXCT1 PCYT1A PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G5 PLA2G6 PLA2G7 PLB1 PLPP3 PRKAA2 PTEN PTGDS PTGS1 PTGS2 RENBP RPN1 SCD SELE SELL SELP SFTPD SI SIGLEC1 SIRT4 SIRT6 SLC33A1 SLC35G1 SLC5A1 SMPD1 SMUG1 SOAT1 SOAT2 SRGN ST6GALNAC5 ST8SIA4 TM7SF2 UGT1A1 UGT1A6 UMOD VCAM1	1012 10135 10162 10327 1056 10682 10855 1116 1118 120227 126 1312 151056 1543 1555 1557 1558 1559 1571 1573 1577 1579 1581 1585 1586 1588 1593 159371 1636 1717 1946 2053 2137 217 2215 2224 231 23171 23409 23583 23659 240 247 249 2525 2590 2591 2645 2678 27306 2739 2752 28 2822 2876 2878 308 32 3290 3339 3383 338328 35 353 38 39 3931 3957 3958 3988 3990 3992 3998 4023 410 4153 43 432 4351 4507 4684 4706 4907 4968 4973 5019 51266 5130 51477 51548 5167 5286 5290 5291 5293 5294 5310 5319 5320 5322 54578 54658 5552 55600 5563 55902 5728 5730 5742 5743 5973 60495 6184 6319 6401 6402 6403 6441 64579 64581 6476 6523 6609 6614 6646 7108 7369 7412 7903 7941 81849 8398 8399 8435 847 8529 8613 8972 90411 9173 9197 929 9365 9388 9415 960	Homo sapiens (human)	DisGeNET
DOID:2491	sensory peripheral neuropathy Aliases: peripheral Sensory Neuropathy sensory neuropathy	AGXT CYP27A1 CYP4F3 GAS1 MTMR2 PKLR PRPS1 SLC33A1 SPTLC1 SPTLC2 SPTLC3	10558 1593 189 2619 4051 5313 55304 5631 8898 9197 9517	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060777	congenital secretory sodium diarrhea 8 Aliases: DIAR8	CALR DGAT1 PTGS2	5743 811 8694	Homo sapiens (human)	DisGeNET DisGeNET
DOID:2717	Bloom syndrome Aliases: Bloom-Torre-Machacek syndrome Congenital Telangiectatic Erythema syndrome	ALPP APRT ATRNL1 CAT HPSE2 LCAT PKM PLAUR SCD UNG	250 26033 353 3931 5315 5329 60495 6319 7374 847	Homo sapiens (human)	DisGeNET
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	B3GLCT C1GALT1 C1GALT1C1	145173 29071 56913	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:1073	renal hypertension	ACE CHGA CYP2C8 CYP2J2 CYP3A4 CYP3A5 CYP4A11 ICAM1 SLC3A1 TM7SF2 TNF UMOD	1113 1558 1573 1576 1577 1579 1636 3383 6519 7108 7124 7369	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110757	type 1 diabetes mellitus 20 Aliases: IDDM20 Insulin-Dependent Diabetes Mellitus 20	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)	DisGeNET DisGeNET
DOID:0060293	autosomal dominant chondrodysplasia punctata	AGPS ARSH DHCR24 EBP GNPAT NSDHL STS SUMF1	10682 1718 285362 347527 412 50814 8443 8540	Homo sapiens (human)	DisGeNET DisGeNET

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