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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	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **76 - 100** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:13711	dental fluorosis Aliases: Intrinsic enamel discolouration of fluorosis Mottled teeth Mottling of enamel	DNM1L	10059	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090139	cortisone reductase deficiency Aliases: CORTRD	H6PD HSD11B1	3290 9563	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112210	developmental and epileptic encephalopathy 74 Aliases: DEE74 early infantile epileptic encephalopathy 74	GABRG2	2566	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080205	CAKUT Aliases: Congenital anomalies of the kidney and urinary tract Renal or urinary tract malformation	BMP4 HSPA1B LIFR NRIP1	3304 3977 652 8204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070444	neurodevelopmental disorder with language delay and seizures	TIAM1 TIAM2	26230 7074	Homo sapiens (human)	Alliance of Genome Resources
DOID:10907	microcephaly Aliases: Microcephalus microencephaly	AARS1 AARS2 ASPM AUTS2 CARS1 CDK5RAP2 CHKA CHKB CIT COPB2 DHX37 EFTUD2 ETNK1 ETNK2 EXOC7 KATNB1 KIF20B MAPKBP1 MFSD2A NSD1 ODF2 PSMB1 PUS7 SLC25A19 TUBA1A TUBB WDR62	10300 11113 1119 1120 16 203068 23005 23265 259266 26053 284403 4957 54517 55224 55500 55755 5689 57505 57647 60386 64324 7846 833 84879 9276 9343 9585	Homo sapiens (human)	Alliance of Genome Resources
DOID:437	myasthenia gravis	ACHE ADRB2 CHRM1 CXCR3 FAS HLA-DQA1 HLA-DQB1 HLA-DRB1 IL2RB MUSK	1128 154 2833 3117 3119 3123 355 3560 43 4593	Homo sapiens (human)	Alliance of Genome Resources
DOID:127	leiomyoma Aliases: leiomyomatous neoplasm leiomyomatous tumor	AR BAX COMT EZH2 FASLG FGF7 FZD2 IGFBP6 KAT6B LNPEP MKI67 MMP2 MYC NOS3 PARP1 PCNA PDGFA PDGFB PGR PTEN PTGER3 PTK2 SFRP1 TGFBR1 TSC2 WNT5B WNT7A XRCC1	1312 142 2146 2252 23522 2535 3489 356 367 4012 4288 4313 4609 4846 5111 5154 5155 5241 5728 5733 5747 581 6422 7046 7249 7476 7515 81029	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112002	immunodeficiency 47 Aliases: CDG IIs CDG2S CDGIIs IMD47 congenital disorder of glycosylation type IIs immunodeficiency and hepatopathy with or without neurologic features	ATP6AP1	537	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060589	Yunis-Varon syndrome Aliases: cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia cleidocranial dysplasia-micrognathia-absent thumbs syndrome	FIG4	9896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080661	nonsyndromic aplasia cutis congenita	BMS1	9790	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080681	X-linked chronic idiopathic intestinal pseudo-obstruction	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:1826	epilepsy Aliases: epilepsy syndrome epileptic syndrome	ABCB1 ACHE ALDH5A1 ALDH7A1 ANK2 ARX ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B3 ATP4B ATP6V0C AZGP1 BCHE BDKRB1 BDKRB2 BMP4 BSN C1QA CACNA1A CACNA1B CACNA1E CACNA2D2 CAMK2D CAPN1 CDK5 CDK5R2 CDYL CHKA CHKB CHL1 CIT CP DEPDC5 DHX9 DYNC1H1 EEF1A1 EEF1A2 ERBB4 ETNK1 ETNK2 FLNA FOS GABRB3 GABRG2 GAD1 GAD2 GAPDH GDNF GRIA1 GRIN1 GRIN2A GRIN2B GRIN2C GRIN2D GRM8 HES1 IL6 ITGA3 ITGA6 ITGA7 KALRN KCNA10 KCNA1 KCNA2 KCNA3 KCNA4 KCNA7 KCNH1 KCNH2 KCNH5 KCNH6 KCNH7 KCNK17 KCNK18 KCNT1 KCNT2 KIF4A L1CAM LGI1 LRP1 LRP1B MAP4K4 MAPT MIF MINK1 MMP9 NFASC NOS1 NOS2 NOS3 NRCAM NRG1 NUS1 PGF PPIA PRICKLE1 PRICKLE2 PRKG1 RAB3B RAC1 RAC2 RELA RHOG RIPK1 SCN10A SCN11A SCN1A SCN2A SCN3A SCN4A SCN5A SCN7A SCN8A SCN9A SIRT1 SLC12A1 SLC12A2 SLC12A3 SLC12A4 SLC12A5 SLC12A6 SLC12A7 SLC13A1 SLC13A3 SLC13A5 SLC1A1 SLC1A3 SLC1A4 SLC1A5 SLC1A6 SLC1A7 SLC24A3 SLC24A4 SLC25A6 SLC6A1 SLCO5A1 STRADA STXBP1 SV2A SYN2 TMTC3 TNF TNIK TRIO UBE3A UNC13A UNC13B	1020 10497 10723 10752 11113 1119 1120 11280 116150 123041 1356 144165 160418 1660 166336 170302 1778 1915 1917 2066 23025 23043 23114 2316 23411 2353 24137 2562 2566 2571 2572 2597 2668 27133 284111 287 2890 2902 2903 2904 2905 2906 2918 293 3084 3280 338567 343450 3569 3655 3675 3679 3736 3737 3738 3739 3743 3744 3756 3757 3897 391 4035 4137 4282 43 4318 476 477 481 482 483 4842 4843 4846 4897 496 501 50488 5228 5243 527 53353 5478 55224 55500 5592 563 57419 57468 57582 5865 5879 5880 590 5970 623 624 6323 6326 6328 6329 6331 6332 6334 6335 6336 64849 6505 6507 6509 6510 6511 6512 652 6529 6557 6558 6559 6560 6561 6812 6854 712 7124 7204 7337 773 774 777 7915 81033 817 81796 823 8737 8927 8941 89822 8997 90134 9211 92335 9254 9425 9448 9681 9900 9990	Homo sapiens (human)	Alliance of Genome Resources
DOID:8717	decubitus ulcer Aliases: Decubitus (pressure) ulcer Decubitus ulcer any site pressure sores pressure ulcer	HIF1A IL10 KDR VEGFA	3091 3586 3791 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:2226	myeloproliferative neoplasm Aliases: CMPD CMPD, U chronic myeloproliferative disease	ASXL1 CBL CSF3R PDGFRB TET2	1441 171023 5159 54790 867	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070451	mitochondrial DNA depletion syndrome 20 Aliases: mitochondrial DNA depletion syndrome 20 (MNGIE type)	LIG3	3980	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080727	Ehlers-Danlos syndrome arthrochalasia type 1	COL1A1	1277	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060853	Potocki-Lupski syndrome Aliases: 17p11.2 microduplication syndrome chromosome 17p11.2 duplication syndrome trisomy 17p11.2	RAI1	10743	Homo sapiens (human)	Alliance of Genome Resources
DOID:10966	lipoid nephrosis Aliases: Minimal Change Glomerulonephritis Minimal change disease Nephrotic syndrome with lesion of minimal change glomerulonephritis Nephrotic syndrome with lesion of minimal change nephrotic syndrome	IL13 IL17A LGALS1 NR3C1 STAT6	2908 3596 3605 3956 6778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080918	polymicrogyria	TUBA1A TUBA1B TUBA1C TUBA4A WDR62	10376 284403 7277 7846 84790	Homo sapiens (human)	Alliance of Genome Resources
DOID:5603	T-cell acute lymphoblastic leukemia Aliases: Precursor T Lymphoblastic Leukemia T Acute Lymphoblastic Leukemia T-cell acute lymphocytic leukaemia T-cell leukemia T-cell lymphoblastic leukemia/lymphoma acute T cell leukemia precursor T-lymphoblastic lymphoma/leukemia	AKR1C3 CARD11 CXCR4 JAK1 JAK3 NBN NUP98 PDGFRA	3716 3718 4683 4928 5156 7852 84433 8644	Homo sapiens (human)	Alliance of Genome Resources
DOID:9810	polyarteritis nodosa	CX3CL1 ELN GDNF GFRA1 VEGFA	2006 2668 2674 6376 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081401	autosomal dominant distal hereditary motor neuronopathy 13	BSCL2	26580	Homo sapiens (human)	Alliance of Genome Resources
DOID:2841	asthma Aliases: bronchial hyperreactivity chronic obstructive asthma chronic obstructive asthma with acute exacerbation chronic obstructive asthma with status asthmaticus	ABCB1 ABO ACE ACSL3 ADAM33 ADAM8 ADH5 ADORA1 ADORA2A ADRB2 AGER AGTR1 AGTR2 ALOX5 AMBP BDKRB2 BDNF BMPR1B BMPR2 C3 C3AR1 C5 C5AR1 CAT CCL11 CCL1 CCL24 CCL2 CCL5 CCL7 CCR2 CCR3 CCR4 CCR5 CCR9 CD14 CD209 CD28 CD40 CD86 CDH1 CFTR CHAT CHI3L1 CHIA CHML CHRM1 CHRM2 CHRM3 CLCA1 CMA1 CRHR1 CRHR2 CSF2 CSF2RB CSF3 CTLA4 CX3CL1 CXCR3 CYP2E1 CYSLTR1 CYSLTR2 DCN DEFB1 DPP10 EDN1 EDNRB EGFR EGR1 EPX F2 F2RL1 F7 FAS FCER1A FCGR2A FCGR3A FGA GATA3 GC GSTO2 HAVCR1 HDAC2 HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQA2 HLA-DQB1 HLA-DRA HLA-DRB1 HLA-DRB3 HLA-G HMGCR HP ICAM1 IFNG IFNGR1 IFNL1 IL10 IL12B IL13 IL13RA1 IL13RA2 IL15 IL16 IL17A IL18R1 IL19 IL1A IL1RL1 IL1RN IL21 IL22 IL2 IL2RA IL2RB IL3 IL4 IL4R IL5 IL5RA IL6 IL9 IL9R IRAK3 ITGB3 ITGB6 ITPR1 KDR LEP LGALS3 LTA4H LTA MBL2 MEFV MIF MMP9 MPO MUC1 MUC2 MUC5AC MUC5B MUC7 MYLK NFE2L2 NGF NOD2 NOS1 NOS2 NOS3 NPSR1 NR3C1 NTF3 NTRK1 ORMDL1 ORMDL2 P2RY12 PARP1 PDGFB PGF PLA2G4A PLA2G7 PLAU PRF1 PRG2 PRMT5 PROC PTGDR2 PTGDR PTGER3 PTGS2 RHOA RUNX3 SERPINA1 SERPINE1 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD SLC18A3 SLC22A1 SLC5A7 SLC6A4 SOD2 STAT1 STAT4 STAT6 TACR1 TACR2 TAP1 TBXA2R TGFB1 THBD TLR10 TLR1 TLR2 TLR3 TLR4 TLR6 TLR9 TNC TNF TRPA1 VEGFA	101 10333 10419 1080 10800 10803 1103 1116 11213 1122 11251 1128 1129 1131 1179 119391 1215 1232 1233 1234 128 134 135 1394 1395 142 1437 1439 1440 1493 154 1571 1634 1636 1672 177 185 186 1906 1910 1956 1958 2147 2150 2155 2181 2205 2212 2214 2243 240 259 2625 2638 26762 27159 28 282618 2833 2908 29095 29949 3066 30835 3106 3113 3115 3117 3118 3119 3122 3123 3125 3135 3156 3240 3371 3383 3458 3459 355 3552 3557 3558 3559 3560 3562 3565 3566 3567 3568 3569 3578 3581 3586 3593 3596 3597 3598 3600 3603 3605 3690 3694 3708 3791 387 387129 3952 3958 4048 4049 4153 4210 4282 4318 4353 4582 4583 4586 4589 4638 4780 4803 4842 4843 4846 4908 4914 5054 50616 5155 5228 5243 5265 5321 5328 54106 5551 5553 5624 57105 5729 5733 5743 57628 59067 60482 624 627 6346 6347 6352 6354 6356 6369 6376 64127 6439 6440 6441 64805 6532 653509 6572 658 6580 659 6648 6772 6775 6778 6865 6869 6890 6915 7040 7056 7096 7097 7098 7099 7124 718 719 727 727897 728 729230 729238 7422 7941 80332 81793 8288 847 864 8809 8989 9173 929 940 94101 942 958 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080924	bilateral perisylvian polymicrogyria	ADGRG1	9289	Homo sapiens (human)	Alliance of Genome Resources

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