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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 **9276 - 9300** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:3021	acute kidney failure	ACE ADRB2 AGER ALOX5 AMBP ANXA1 AR AVPR1A AZGP1 B2M BAD BAX CAPN1 CDKN1B CLU CYP27B1 CYP2E1 ECE1 EGF EGFR EPAS1 EPO FAS FGA FN1 GFER GPX3 HAVCR1 HBEGF HDAC3 HES1 HIF1A HP HPR HSPA8 ICAM1 IGF1R IL1RN IL6 LCN2 LGALS3 MET MPO MTOR NDUFB8 NES NFE2L2 NOS1 NOS3 NPPA NPPB PKD2 PLAT PPARG PROC PROCR PTAFR PTGER4 PTGS2 RB1 REN SERPINC1 SIRT1 SLC22A1 SLC22A2 TGFA THBD TLR4 TNFRSF1A TNFRSF1B UTS2R WNT4	1027 10544 10763 1191 154 1571 1594 1636 177 1839 1889 1950 1956 2034 2056 2243 2335 23411 240 2475 259 2671 26762 2837 2878 301 3091 3240 3250 3280 3312 3383 3480 355 3557 3569 367 3934 3958 4233 4353 462 4714 4780 4842 4846 4878 4879 5311 5327 54361 5468 552 5624 563 567 572 5724 5734 5743 581 5925 5972 6580 6582 7039 7056 7099 7132 7133 823 8841	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050856	oppositional defiant disorder	AR	367	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080950	alopecia-mental retardation syndrome 4	LSS	4047	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050083	Keshan disease	CYP1A1 CYP2C19 GPX1	1543 1557 2876	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110567	autosomal dominant nonsyndromic deafness 41 Aliases: DFNA41 autosomal dominant deafness 41	P2RX2	22953	Homo sapiens (human)	Alliance of Genome Resources
DOID:10609	rickets Aliases: active rickets	CYP27B1 FAM20C	1594 56975	Homo sapiens (human)	Alliance of Genome Resources
DOID:11996	spermatic cord torsion Aliases: Torsion of testicle Torsion of testis testicular Torsion	GPX3	2878	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111955	immunodeficiency 27A Aliases: IMD27A autosomal recessive IFNGR1 deficiency autosomal recessive MSMD due to partial IFNgammaR1 deficiency autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency autosomal recessive immunodeficiency 27A, mycobacteriosis autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency	IFNGR1	3459	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111938	immunodeficiency 24 Aliases: IMD24 SCID due to CTPS1 deficiency severe combined immunodeficiency due to CTPS1 deficiency	CTPS1	1503	Homo sapiens (human)	Alliance of Genome Resources
DOID:5031	adult pineal parenchymal tumor Aliases: adult Pineal Parenchymal neoplasm	MKI67	4288	Homo sapiens (human)	Alliance of Genome Resources
DOID:2384	Wernicke encephalopathy Aliases: Wernicke's disease Wernicke's encephalopathy	FOS PTGS2	2353 5743	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070043	autosomal dominant intellectual developmental disorder 13 Aliases: MRD13 autosomal dominant mental retardation 13 autosomal dominant non-syndromic intellectual disability 13 mental retardation, autosomal dominant 13, with neuronal migration defects	DYNC1H1	1778	Homo sapiens (human)	Alliance of Genome Resources
DOID:11240	appendiceal neoplasm Aliases: appendix neoplasm neoplasm of appendix	DAXX	1616	Homo sapiens (human)	Alliance of Genome Resources
DOID:11151	cholecystolithiasis	PLA2G2A UGT1A1	5320 54658	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060604	ankyloglossia Aliases: tongue-tie	LGR5	8549	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110169	Charcot-Marie-Tooth disease axonal type 2P Aliases: CMT2P Charcot-Marie-Tooth disease type 2P Charcot-Marie-Tooth neuropathy type 2P	LRSAM1	90678	Homo sapiens (human)	Alliance of Genome Resources
DOID:1088	meningocele	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060298	complement component 4b deficiency	C4B	721	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110770	hereditary spastic paraplegia 17 Aliases: SPG17 Silver spastic paraplegia syndrome Silver syndrome autosomal dominant spastic paraplegia 17 autosomal dominant spastic paraplegia type 17 dHMN5B distal hereditary motor neuropathy type 5B spastic paraplegia with amyotrophy of hands and feet spastic paraplegia-amyotrophy of hands and feet	BSCL2	26580	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080726	Ehlers-Danlos syndrome classic type 2	COL5A2	1290	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110306	autosomal dominant limb-girdle muscular dystrophy type 3 Aliases: LGMD1G autosomal dominant limb-girdle muscular dystrophy type 1G muscular dystrophy limb-girdle type 1G	HNRNPA1 HNRNPA3 HNRNPAB HNRNPD MSI1	220988 3178 3182 3184 4440	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111114	nephronophthisis 3 Aliases: NPH3 NPHP3	NPHP3	27031	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111373	familial progressive hyperpigmentation with or without hypopigmentation Aliases: FPHH MUH melanosis universalis hereditaria	KITLG	4254	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081155	common variable immunodeficiency 13	IKZF1	10320	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070177	spermatogenic failure 22 Aliases: SPGF22	MEIOB	254528	Homo sapiens (human)	Alliance of Genome Resources

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