GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Gene Symbol

Gene ID

Organism

Source

Display
results per page.

Clear

Submissions

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 **7976 - 8000** of **15957** in total

« First

‹ Prev

…

316

317

318

319

320

321

322

323

324

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110210	Charcot-Marie-Tooth disease X-linked recessive 5 Aliases: CMT5X CMTX5 Charcot-Marie-Tooth neuropathy X-linked recessive 5 Rosenberg-Chutorian syndrome X-linked Charcot-Marie-Tooth disease type 5 optic atrophy, polyneuropathy, and deafness	PRPS1 PRPSAP1	5631 5635	Homo sapiens (human)	Alliance of Genome Resources
DOID:14654	prostatitis	BAMBI CCL11 CYP19A1 IL10 PTGS2 SMAD4	1588 25805 3586 4089 5743 6356	Homo sapiens (human)	Alliance of Genome Resources
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

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements