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 **10126 - 10150** of **15957** in total

« First

‹ Prev

…

402

403

404

405

406

407

408

409

410

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0050946	Charlevoix-Saguenay spastic ataxia	Sacs	50720	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2491	sensory peripheral neuropathy Aliases: peripheral Sensory Neuropathy sensory neuropathy	Bace1	23821	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:37	skin disease Aliases: Genodermatosis skin and subcutaneous tissue disease	Col24a1 Il10 Tnf	16153 21926 71355	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14768	Saethre-Chotzen syndrome	Fgfr2	14183	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111602	distal arthrogryposis type 2B3 Aliases: DA2B3 distal arthrogryposis type 2B3 (Sheldon-Hall)	Myh13 Myh1 Myh2 Myh3 Myh4 Myh6 Myh7 Myh7b	140781 17879 17882 17883 17884 17888 544791 668940	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112266	nephrotic syndrome type 23 Aliases: NPHS23	Kirrel1	170643	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110861	autosomal recessive polycystic kidney disease Aliases: Arpkd Pkhd1 Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney and Hepatic Disease 1	Ace Akt1 Aqp1 Arl3 C3 Cd14 Cftr Gpbar1 Mtor Panx1 Pik3ca Pkd1 Pkhd1 Slc4a2 Tmem67 Tsc1	11421 11651 11826 12266 12475 12638 18706 18763 20535 227289 241035 329795 55991 56350 56717 64930	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4531	mucoepidermoid carcinoma Aliases: MEC	Cdh1 Cxcr4 Dnmt1	12550 12767 13433	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050474	Netherton syndrome	Gba1 Spink5	14466 72432	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060853	Potocki-Lupski syndrome Aliases: 17p11.2 microduplication syndrome chromosome 17p11.2 duplication syndrome trisomy 17p11.2	Rai1	19377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060747	Duane-radial ray syndrome Aliases: DR syndrome Duane anomaly with radial ray abnormalities and deafness Okihiro syndrome acrorenocular syndrome	Sall4	99377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110759	type 1 diabetes mellitus 22 Aliases: IDDM22 Insulin-Dependent Diabetes Mellitus 22	Ccr5	12774	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112215	developmental and epileptic encephalopathy 79 Aliases: DEE79 early infantile epileptic encephalopathy 79	Gabra5	110886	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110555	autosomal dominant nonsyndromic deafness 25 Aliases: DFNA25 autosomal dominant deafness 25	Slc17a8 Trpv4	216227 63873	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14780	KBG syndrome	Ankrd11	77087	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:302	substance abuse	Adra2a Drd4 Htr1a Htr1b Slc6a4	11551 13491 15550 15551 15567	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111808	linear skin defects with multiple congenital anomalies 1 Aliases: MCOPS7 MIDAS syndrome Microphthalmia with linear skin defect syndrome microphthalmia-dermal aplasia-sclerocornea syndrome syndromic microphthalmia 7 syndromic microphthalmia type 7	Hccs	15159	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080077	hypophosphatemic nephrolithiasis/osteoporosis 1	Slc34a1	20505	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070382	developmental and epileptic encephalopathy 95 Aliases: DEE95 early infantile epileptic encephalopathy 95	Pigs	276846	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	Abcb11 Abcb1a Abcb1b Abcb4 Abcb5 Adrb1 Adrb2 Adrb3 Ager Ccl11 Ccl2 Cd14 Cd40lg Cftr Clca1 Clcn2 Csf3r Cxcl9 Cxcr3 Cyp1a1 Edem1 Fas Fasl Fcgr2b Fcgr3 Gclc H2-D1 H2-K1 H2-M2 H2-M3 H2-Q10 H2-Q1 H2-Q2 H2-Q6 H2-Q7 Havcr2 Hc Hfe Hspa1a Hspd1 Igfbp3 Il13 Il17a Il18bp Il1a Il1rn Il9 Il9r Lep Lta Mbl2 Mmp9 Mpo Muc1 Muc5ac Muc5b Nos3 Ppara Ptgdr2 Ptgs2 Ptx3 Scnn1b Serpina3a Serpina3b Serpina3c Serpina3f Serpina3j Serpina3k Serpina3m Serpina3n Sftpb Sftpd Tgfb1 Timp1 Tlr4 Tlr5 Tlr9 Tnf	110557 11554 11555 11556 11596 12475 12638 12724 12766 12986 13076 14102 14103 14130 14131 14629 14764 14964 14972 14990 14991 15006 15007 15013 15018 15139 15216 15510 16009 16068 16163 16171 16175 16181 16198 16199 16625 16846 16992 171285 17195 17329 17395 17523 17829 17833 18127 18669 18670 18671 19013 192193 19225 19288 193740 20277 20292 20296 20388 20390 20714 20716 20717 21803 21857 21898 21926 21947 238393 238395 23844 271047 27413 53791 74069 74180 77706 81897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111680	essential fructosuria Aliases: fructokinase deficiency hepatic fructokinase deficiency ketohexokinase deficiency	Khk	16548	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060793	hypomyelinating leukodystrophy 5 Aliases: HLD5 hypomyelination-congenital cataract syndrome	Hycc1 Hycc2	213056 84652	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111498	combined oxidative phosphorylation deficiency 22 Aliases: COXPD22	Atp5f1a	11946	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3314	angiomyolipoma	Ogg1 Stat3	18294 20848	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070122	Meckel syndrome 8 Aliases: MKS8 Meckel-Gruber syndrome, type 8	Tctn2	67978	Mus musculus (house mouse)	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