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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 **2576 - 2600** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110174	Charcot-Marie-Tooth disease axonal type 2L Aliases: CMT2L Charcot-Marie-Tooth neuropathy axonal type 2L autosomal dominant Charcot-Marie-Tooth disease type 2L autosomal dominant axonal Charcot-Marie-Tooth disease type 2L	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110011	advanced sleep phase syndrome 1 Aliases: FASPS1 familial advanced sleep phase syndrome 1	PER2	8864	Homo sapiens (human)	Alliance of Genome Resources
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:12969	central nervous system leukemia Aliases: Leukemia of the CNS	ICAM1 NCAM1	3383 4684	Homo sapiens (human)	DisGeNET
DOID:3781	anovulation	CYP19A1 PAPSS2	1588 9060	Homo sapiens (human)	DisGeNET
DOID:0110809	hereditary spastic paraplegia 57 Aliases: SPG57 autosomal recessive spastic paraplegia 57 autosomal recessive spastic paraplegia type 57	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:4829	adenosquamous lung carcinoma	PIK3CA PTEN	5290 5728	Homo sapiens (human)	DisGeNET
DOID:3846	adamantinous craniopharyngioma Aliases: Adamantinous Rathke's Pouch tumor craniopharyngioma, adamantinomatous	ATP6AP2 CD44 CEL CYP2E1 GAD1 GPX1 HSD11B1 IDH1 LGALS1 NDUFAB1	10159 1056 1571 2571 2876 3290 3417 3956 4706 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110792	hereditary spastic paraplegia 4 Aliases: SPG4 autosomal dominant spastic paraplegia 4 autosomal dominant spastic paraplegia type 4	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:14761	Greig cephalopolysyndactyly syndrome Aliases: polysyndactyly with peculiars skull shape	PGAM2	5224	Homo sapiens (human)	DisGeNET
DOID:0060285	parietal foramina Aliases: Caitlin marks enlarged parietal foramina hereditary cranium bifidum	CAT EXT2 QTRT1 UGT8	2132 7368 81890 847	Homo sapiens (human)	DisGeNET
DOID:0050854	Muckle-Wells syndrome Aliases: MWS neutrophilic urticaria	IL18R1 NT5E PLCG2	4907 5336 8809	Homo sapiens (human)	DisGeNET
DOID:1273	respiratory syncytial virus infectious disease Aliases: RSV respiratory syncytial virus	ACE CD14 CHI3L1 FCGR3B GPI HPGDS ICAM1 IL18R1 ISYNA1 MICA NCAM1 PTGDS PTGIS PTGS2 SFTPA1 SFTPA2 SFTPC SFTPD SIGLEC1 SMPD1 STS TLR4	100507436 1116 1636 2215 27306 2821 3383 412 4684 51477 5730 5740 5743 6440 6441 653509 6609 6614 7099 729238 8809 929	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110718	Warburg micro syndrome 3 Aliases: Micro Syndrome 3 WARBM3	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050645	arterial tortuosity syndrome	NT5E SLC2A10	4907 81031	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:231	motor neuron disease	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 GAL3ST1 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 SLC35A1 TIGAR TMED9	10462 10559 10724 10908 2220 23098 2674 3074 3099 353 427 43 4907 54732 57103 847 9514 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:1098	fetal erythroblastosis Aliases: EF - Erythroblastosis foetalis Haemolytic disease due to rhesus isoimmunisation erythroblastosis fetalis rhesus isoimmunisation of the newborn	ABO ANXA5 CD55 FCGR3B G6PD GPI MBL2 OCRL PIGA PNP	1604 2215 2539 28 2821 308 4153 4860 4952 5277	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:7633	macular holes Aliases: Macular hole	GALNS RPE	2588 6120	Homo sapiens (human)	DisGeNET
DOID:0060359	Sakati-Nyhan syndrome Aliases: ACPS with leg hypoplasia Sakati syndrome Sakati-Nyhan-Tisdale syndrome acrocephalopolysyndactyly Type III acrocephalopolysyndactyly type 3	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0080533	Carney-Stratakis syndrome	SDHB SDHC SDHD	6390 6391 6392	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3234	central nervous system lymphoma Aliases: Microglioma primary CNS lymphoma	ABO ACE ACOX1 ACSBG1 ACSF3 ALOX12 ALPI ALPP AMT ANXA5 CALR CANX CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD55 CD74 CDH13 CEL CHPT1 CLEC10A CNTN2 COMT CYP17A1 CYP1A1 CYP1B1 CYP2B6 CYP2E1 CYP3A4 DHDDS ENO2 ENOSF1 EPM2A FCER2 FCGR3B FH FMOD G6PD GBA1 GCSH GGT1 GLB1 GPC5 GPI GPX1 HEXA HK2 HMMR HPGDS HPRT1 HPSE HYAL2 ICAM1 IDH1 IDH2 IL1R1 IL1RL1 INPP4B INPP5D ISYNA1 KLRC1 KLRD1 LDHA LGALS1 LGALS3 LGALS9 LY6K MBL2 MCAT MLYCD MRC1 MTAP NAMPT NCAM1 NDUFAB1 OGG1 OPCML PARP1 PARP4 PARP9 PGM3 PGP PIGK PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 PLD2 PLOD3 PNP PPP1R3A PTEN PTGDS PTGES PTGS2 RTN4R SDC1 SELE SHMT1 SLC27A5 SLC2A3 SLC35A2 SLC35B2 SMC3 SMUG1 SOAT1 SPHK2 ST6GALNAC5 STS SULT1E1 TIGAR TKTL1 TMTC3 TNFRSF10C UNG VCAM1 VTCN1	10026 1012 10135 10462 1056 10855 10998 1312 142 143 1543 1545 1555 1571 1576 1586 1604 160418 1636 197322 2026 2208 2215 2262 2271 23205 2331 23417 23583 239 248 250 2539 2629 2653 2678 2720 27306 27349 275 28 2821 283871 2876 3073 308 3099 3161 3251 3383 3417 3418 347734 3554 3635 3821 3824 3939 3956 3958 3965 412 4153 4360 4507 4684 4706 4860 4968 4978 51 51477 5238 5290 5291 5293 5294 5336 5338 54742 5506 55556 56848 56994 57103 5728 5730 5743 6382 6401 6470 65078 6515 6646 6783 6900 7355 7374 7412 7957 79679 79947 811 81849 821 8277 83666 847 8692 8794 8821 8985 912 9126 9173 929 933 945 952 9536 960 962 972	Homo sapiens (human)	DisGeNET DisGeNET
DOID:12211	filarial elephantiasis Aliases: Bancroftian elephantiasis Bancroftian filarial chyluria Lymphatic filariasis elephantiasis of eyelid	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:11723	Duchenne muscular dystrophy Aliases: Muscular dystrophy, Duchenne	ACE ACHE ACOT7 ACSL4 AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD38 CHKA CHKB CRPPA DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN G6PD GAA GK GLB1 GMPPB GPC1 GPX3 HJV HPGDS HPRT1 HSPG2 IDH2 IGF2R IL1RL1 IMPA1 INPP5B INPP5K KL LARGE1 LARGE2 LGALS1 LGALS3 LIPG MBL2 MGAM MRC1 PARP1 PIK3C2A PKD1 PLA2G6 PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 RGN RXYLT1 SDC2 SDC3 SI ST8SIA4 SYNJ1 SYNJ2 TM7SF2 VCAM1 VCAN XYLT1	10329 10585 11041 1119 1120 11332 120071 124872 142 1462 148738 148789 1605 1634 1636 178 1800 2023 2182 2218 239 250 2539 2548 26033 2710 2720 27306 2817 2878 29925 29954 3251 3339 3418 3482 353 3612 3633 3956 3958 4153 43 4360 501 51763 5286 5310 5373 54344 5553 55624 5563 56983 6383 64131 6476 7108 729920 7412 7903 79147 8398 84197 84892 8813 8818 8867 8871 8972 9104 9173 9215 9365 9388 952 9672	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110753	type 1 diabetes mellitus 15 Aliases: IDDM15 Insulin-Dependent Diabetes Mellitus 15	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:3996	urinary system cancer	ACE ACSS2 CEACAM5 CEACAM7 COMT OGG1 PLA2G15	1048 1087 1312 1636 23659 4968 55902	Homo sapiens (human)	DisGeNET

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