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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 **1276 - 1300** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0050886	Troyer syndrome Aliases: SPG20 autosomal recessive spastic paraplegia 20 autosomal recessive spastic paraplegia Troyer type autosomal recessive spastic paraplegia type 20 childhood-onset spastic paraparesis with distal muscle wasting hereditary spastic paraplegia 20 spastic paraplegia 20 spastic paraplegia type 20	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG NT5E PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 4907 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)	DisGeNET DisGeNET
DOID:14069	cerebral malaria Aliases: Malarial encephalitis	ACE ALOX5 CAT CHI3L1 ENOSF1 FH ICAM1 IL1R1 ISYNA1 LGALS2 MBL2 MPPE1 PNP PRKAA2 PTGS2 SELE	1116 1636 2271 240 3383 3554 3957 4153 4860 51477 55556 5563 5743 6401 65258 847	Homo sapiens (human)	DisGeNET
DOID:0060581	Noonan syndrome 3 Aliases: NS3	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050669	spastic cerebral palsy	GAD1 GAD2	2571 2572	Homo sapiens (human)	Alliance of Genome Resources
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	ABO ACAN ACE ACHE ACO2 ACOT7 ADIPOQ AGA AKR1B1 ALOX15 ALOX5 AMACR AMT ANXA5 APRT ARSA ARSF ATP6AP2 B3GAT1 B4GALT5 B4GALT6 BST2 CANX CAT CD14 CD177 CD1D CD38 CD44 CD48 CD74 CEACAM5 CEACAM7 CEMIP CERS2 CERS6 CH25H CHAT CHGA CHI3L1 CHIT1 CLEC12A CLEC16A CLEC4E CNTN1 COLEC12 COMT CPT1A CSGALNACT1 CSGALNACT2 CYP17A1 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2R1 CYP3A4 CYP46A1 CYP7A1 CYP7B1 DCN DHCR24 DHCR7 DHRS11 DLD ENO1 ENPP2 FCGR3B FH FOLR2 GAD1 GAD2 GALC GANAB GAPDH GBE1 GLA GLO1 GPC5 GPI H6PD HPGDS HPRT1 HPSE HSD17B6 HSD17B7 ICAM1 ICAM5 IGF2 IL18R1 INPP4B ISYNA1 ITLN1 KL KLRB1 KLRC1 KLRD1 KLRK1 LALBA LDHA LGALS1 LGALS3 LGALS8 LGALS9 LPL MAG MANBA MASP1 MASP2 MBL2 MGAT1 MGAT5 MICA MMP25 MOGAT1 NCAM1 NCAN NT5E OGG1 OLR1 PARP1 PC PCK1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLD1 PPT2 PRNP PSMD10 PTGES PTGS2 QTRT1 RGMA RGMB RTN4R SDC1 SELE SELP SEMA7A SGPL1 SHMT1 SIGLEC1 SIRT2 SLC2A4 SMPD1 SOAT1 SPHK1 SPHK2 ST8SIA1 SUMF1 TALDO1 TKT TLR4 TMED5 TNF TNFRSF10C TPI1 VCAM1	100507436 10159 1048 10747 10855 10858 1087 1103 1113 1116 1118 11332 116255 120227 1272 1312 1374 142 1463 151056 1545 1555 1557 1559 1576 1581 1586 1589 1591 1593 1594 160364 1634 1636 1717 1718 1738 175 176 2023 2215 2262 2271 22914 22933 231 23193 23274 2350 23600 240 246 253782 2571 2572 2581 2597 26253 2632 27087 2717 27306 2739 275 28 2821 285362 285704 29956 308 3251 3383 3481 353 3820 3821 3824 3906 3939 3956 3958 3964 3965 4023 4099 410 4126 4153 416 4245 4249 43 4684 4907 4968 4973 50 5091 50999 5105 51477 51478 5168 5290 5291 5293 5294 5319 5320 5321 5337 55454 55600 55790 5621 5648 56848 56963 57126 5716 57214 5743 6382 6401 6403 64386 6470 6489 65078 6517 6609 6614 6646 684 6888 7086 7087 7099 7124 7167 7412 79154 7941 81035 81890 821 8398 847 8482 8630 8794 8809 8821 8877 8879 9023 912 929 9331 9334 9365 9370 9374 9420 952 9536 9563 960 962 972	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:9563	bronchiectasis Aliases: Polynesian bronchiectasis	CALR CEL FCN2 G6PC3 ICAM1 ISYNA1 LGALS9 MBL2 MICA NTM PARP9 PGM3 PIK3CD RGMA SFTPA1 SFTPA2 SFTPC SFTPD SLC27A5 TNF	100507436 1056 10998 2220 3383 3965 4153 50863 51477 5238 5293 56963 6440 6441 653509 7124 729238 811 83666 92579	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0070025	X-linked dyskeratosis congenita Aliases: DKCX Zinsser-Cole-Engman syndrome	GALNT3 GOLPH3	2591 64083	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0080587	congenital myasthenic syndrome 22	SLC3A1	6519	Homo sapiens (human)	DisGeNET
DOID:0111148	isolated ectopia lentis Aliases: IEL familial ectopia lentis	B3GALT6 HSPG2	126792 3339	Homo sapiens (human)	DisGeNET
DOID:13677	SAPHO syndrome Aliases: Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome	DPEP1 LPIN2 SMUG1	1800 23583 9663	Homo sapiens (human)	DisGeNET
DOID:9312	chronic ethmoiditis Aliases: chronic ethmoid sinusitis chronic ethmoidal sinusitis ethmoidal sinusitis - chronic	CHI3L1 CLC CYP11A1 CYP11B1 HPGDS HPSE HSD11B1 HSD11B2 ICAM1 IL1RL1 LYZ PGM3 PLB1 PTGDS PTGS1 SELE SFTPA1 SFTPD	10855 1116 1178 151056 1583 1584 27306 3290 3291 3383 4069 5238 5730 5742 6401 6441 653509 9173	Homo sapiens (human)	DisGeNET
DOID:2495	senile angioma Aliases: Senile hemangioma Senile naevus of skin	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:3284	thymic carcinoma Aliases: Thymoma, malignant malignant Thymoma	CAT CD44 CD74 CLEC14A G6PD GAPDH GPX1 HACD1 HSD17B7 ICAM1 LY75 MICA MSLN PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN PTGES2 PTGES PTGS2 SMUG1 SULT1E1	100507436 10232 142 161198 23583 2539 2597 2876 3383 4065 51478 5290 5291 5293 5294 5716 5728 5743 6783 80142 847 9200 9536 960 972	Homo sapiens (human)	DisGeNET DisGeNET
DOID:1931	hypothalamic disease	AMY1A AMY1B AMY1C APRT CAT CYP17A1 CYP19A1 HPGDS L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PRNP	1586 1588 27306 276 277 278 353 3897 5290 5291 5293 5294 5621 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:746	adenomatoid tumor Aliases: adenomatoid tumour benign localised epithelial Mesothelioma benign localized epithelial Mesothelioma	ANXA4 L1CAM	307 3897	Homo sapiens (human)	DisGeNET
DOID:0110565	autosomal dominant nonsyndromic deafness 3B Aliases: DFNA3B autosomal dominant deafness 3B	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:0070042	Coffin-Siris syndrome 1 Aliases: CSS1 MRD12 autosomal dominant mental retardation 12 fifth digit syndrome	CD14 CMAS SDHB SDHC SDHD SORD TNFRSF10C	55907 6390 6391 6392 6652 8794 929	Homo sapiens (human)	DisGeNET
DOID:4226	endometrial stromal sarcoma Aliases: ESS Undifferentiated endometrial sarcoma endometrial stromal sarcoma, high grade	CYP19A1 HPRT1 NCAM1 TKTL1	1588 3251 4684 8277	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110672	congenital myasthenic syndrome 21 Aliases: CMS21 congenital myasthenic syndrome 21, presynaptic	CHAT	1103	Homo sapiens (human)	DisGeNET
DOID:322	myelitis	ACE ADH5 AGA ALOX5 APRT ARSA ATP6V0A2 CAT CD1D CD38 CD44 CD48 CD74 CD93 CEMIP CERS2 CERS6 CH25H CHAT CHGA CHI3L1 CLEC12A COMT CPT1A CPT2 CYP17A1 CYP27B1 CYP46A1 DEGS1 DGAT1 ENO2 ENPP1 FASN FCER2 FOLR2 FUT7 FUT8 GAD1 GAD2 GANAB GAPDH GCK GLUL GPI HPGDS HPRT1 HPSE ICAM1 ICAM5 IL1R1 ISYNA1 KL KLRK1 L2HGDH LDHA LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LY75 MGLL MRC1 NCAM1 NDST1 NT5E OGA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PRNP PSMD10 PTEN PTGDS PTGES PTGS2 RGMA RTN4R SDC1 SELE SELP SEMA7A SIGLEC1 SIRT6 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 ST3GAL4 STS TMED5 TPI1 VCAM1	10724 10855 10858 1103 1113 1116 11343 128 1312 1374 1376 142 151056 1586 1594 160364 1636 175 2026 2194 2208 22914 22918 23193 2350 23545 23583 240 2529 2530 253782 2571 2572 2597 2645 27306 2752 2821 29956 3251 3340 3383 353 3554 3939 3956 3958 3960 3964 3965 4065 410 412 4360 4684 4907 50999 51477 51548 5167 5290 5291 5293 5294 5315 5319 5320 5321 5621 56848 56963 5716 57214 5728 5730 5743 6382 6401 6403 6484 65078 6609 6614 6646 7087 7167 7412 79944 8398 847 8482 8560 8694 8877 9023 912 9365 952 9536 960 962 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:2841	asthma Aliases: bronchial hyperreactivity chronic obstructive asthma chronic obstructive asthma with acute exacerbation chronic obstructive asthma with status asthmaticus	ABO ACAA1 ACE ACHE ACOT7 ACSL3 ADH1B ADH5 AGXT AKR1B1 ALDH2 ALDH3A1 ALDH3A2 ALDH7A1 ALOX15 ALOX15B ALOX5 ALPL ANXA4 ANXA5 APRT ARSA ATRN ATRNL1 B3GAT1 BST1 CAT CD14 CD1D CD209 CD33 CD38 CD44 CD48 CD93 CDH13 CEACAM5 CEACAM6 CEL CHAT CHI3L1 CHIA CHIT1 CHST8 CLC CLEC10A CLEC16A CLEC4E CLEC7A COG6 COL9A2 COLEC10 COMT CRYBG1 CTSA CYP11A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP3A7 CYP4F3 DAD1 DAG1 DCN DGKB DGKE DGKG DGKH EBP EFNA1 ENO1 ENO2 ENPP1 FADS1 FADS2 FCER2 FCGR3B FUT2 G6PD GALNT17 GAPDH GAS1 GBA3 GFRA4 GGT1 GLA GLB1 GLDC GLT1D1 GNPDA2 GPX1 GPX3 GSTO2 HACD1 HAS2 HEXB HPGDS HPSE2 HSD11B2 ICAM1 IDS IL18R1 IL18RAP IL1R1 IL1RAPL1 IL1RL1 INPP4A ISYNA1 ITLN1 ITPKA KLRB1 KLRD1 LCT LEP LGALS1 LGALS3 LGALS9 LIPA LIPG LPCAT1 LPCAT3 LPIN2 LTA4H LTC4S LYNX1 MANBA MBL2 MRC1 NT5E OGG1 ORMDL1 ORMDL2 OTOG PAFAH1B1 PARP14 PARP1 PARP9 PC PDIA3 PGAP3 PGD PGM3 PGP PIGX PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1B PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G4C PLA2G6 PLA2G7 PLA2R1 PLAUR PLB1 PLCG1 PLD1 PNPLA3 PRG2 PRNP PSAP PTEN PTGDS PTGES PTGS1 PTGS2 RGMB SCD SDC4 SDHD SELE SELL SELP SFTPA1 SFTPA2 SFTPC SFTPD SIGLEC1 SIGLEC8 SIGLEC9 SIRT2 SIRT6 SLC17A5 SLC27A5 SLC2A10 SLC33A1 SMC3 SMPD1 SOAT1 ST6GAL1 STS TALDO1 TBXAS1 TLR10 TLR1 TLR2 TLR4 TLR6 TM7SF2 TMTC2 TNF TPI1 UGT1A1 UGT1A3 UGT1A6 VCAM1 VNN1	1012 10162 10333 10462 1048 1056 10584 10682 10998 1103 11141 1116 1118 11332 1178 119391 120227 125 128 1298 1312 132789 142 144423 151056 1543 1544 1545 1551 1555 1557 1558 1571 1573 1576 1577 1583 1591 1593 1594 1603 160335 1605 1607 1608 160851 1634 1636 189 1942 202 2023 2026 217 218 2181 2208 2215 224 22918 22925 22933 231 23274 240 246 247 249 2524 2539 2597 26033 2619 26253 26503 2678 27087 27159 2717 27180 27181 2720 27306 2731 28 283871 285704 2876 2878 29095 2923 30 3037 307 3074 308 30835 3291 3383 340990 3423 353 3554 3631 3706 3820 3824 3938 3952 3956 3958 3965 3988 3992 4048 4051 4056 410 412 4126 4153 43 4360 4680 4907 4968 501 5048 5091 51477 51548 5167 5226 5238 5290 5291 5293 5294 5319 5320 5321 5329 5335 5337 54578 54625 54658 54659 5476 54965 5553 55600 5621 5660 5728 5730 5742 5743 57511 57733 60495 6319 6385 6392 6401 6402 6403 64096 64377 6440 64409 6441 64581 6480 653509 66004 6609 6614 6646 683 6888 6916 7096 7097 7099 7108 7124 7167 729238 7412 7941 79888 80339 81031 81793 83666 8395 8398 8399 8455 847 8526 8605 8807 8809 8876 912 9126 9173 9197 9200 929 93210 9388 94101 9415 945 952 9536 960 962 9663	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110409	retinitis pigmentosa 46 Aliases: RP46	IDH3B	3420	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3263	piebaldism Aliases: PIEBALD TRAIT Partial albinism	ABO CALR	28 811	Homo sapiens (human)	DisGeNET
DOID:6886	ureter small cell carcinoma Aliases: ureteral small cell carcinoma	CHGA	1113	Homo sapiens (human)	DisGeNET
DOID:2527	nephrosis	ABO ACACA ACACB ACE ACSL1 AGPAT2 AKR1B1 ALG1 ALOX12 ALPL APRT ARSA ATP6AP2 C1GALT1 C1GALT1C1 CALR CAT CDH13 CEL CHI3L1 CHIT1 CLC CNTN3 COLEC11 CTNS CYP11A1 CYP19A1 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP3A5 DCN DDOST DGKE ELOVL5 ENO1 ENO2 ENPP1 FADS2 FAR2 FMOD G6PC1 G6PD GAD1 GAD2 GAS1 GCK GFPT1 GLA GLO1 GPX1 GPX3 HAS2 HAS3 HPRT1 HPSE HSD11B2 HSPG2 ICAM1 IL1R1 INPP5D INPP5E KL LCAT LGALS3 LIPC LYZ MASP2 MBL2 MDH2 MLYCD NAGLU NAMPT NCAM1 NDST1 OGA PAFAH1B1 PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G2A PLA2R1 PLAUR PLB1 PRKAA2 PTEN PTGDS PTGES PTGS1 PTGS2 RENBP RGN SACM1L SCD SDC1 SDC2 SDC4 SELE SELL SFTPD SGPL1 SIGLEC1 SIRT6 SLC17A5 SLC2A2 SLC33A1 SLC37A4 SLC5A1 SMPDL3B SOAT1 SORD STS SULT1E1 TM7SF2 TREH UGT2B17 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	1012 10135 10159 10555 1056 10724 10747 10855 1116 1118 11181 1178 142 1462 1497 151056 1555 1557 1558 1559 1571 1577 1583 1588 1591 1594 1634 1636 1650 2023 2026 2180 22908 22925 231 2331 23417 239 249 2538 2539 2542 2571 2572 2619 2645 26503 2673 2717 27293 2739 28 2876 2878 29071 3037 3038 31 32 3251 3291 3339 3340 3383 353 3554 3635 3931 3958 3990 4069 410 412 4153 4191 4669 4684 5048 5067 5091 51548 5167 5290 5291 5293 5294 5310 5311 5320 5329 5563 55711 56052 56623 56913 5728 5730 5742 5743 5973 60481 6319 6382 6383 6385 6401 6402 64131 64132 6441 6514 6523 6614 6646 6652 6783 7108 7367 7369 7412 78989 79679 811 847 8526 8879 9104 9197 9365 9415 9536	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources

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