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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 **12026 - 12050** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0060673	Peters anomaly	CYP1B1	1545	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111363	Heinz body anemia	HBA1 HBA2 HBB	3039 3040 3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060445	congenital stromal corneal dystrophy Aliases: CSCD congenital hereditary stromal dystrophy	DCN	1634	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050715	methylmalonic aciduria and homocystinuria type cblC Aliases: Cobalamin C deficiency MAHCC	PRDX1 THAP11	5052 57215	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060212	amyotrophic lateral sclerosis type 21 Aliases: ALS21	MATR3	9782	Homo sapiens (human)	Alliance of Genome Resources
DOID:10808	gastric ulcer Aliases: acute gastric ulcer with haemorrhage and perforation acute gastric ulcer with hemorrhage AND with perforation but without obstruction acute gastric ulcer with hemorrhage and obstruction acute gastric ulcer with hemorrhage and perforation acute gastric ulcer with hemorrhage and perforation, with obstruction acute gastric ulcer with hemorrhage and perforation, without mention of obstruction acute gastric ulcer with hemorrhage, with obstruction acute gastric ulcer with hemorrhage, with perforation AND with obstruction acute gastric ulcer with perforation acute gastric ulcer with perforation AND obstruction acute gastric ulcer with perforation, with obstruction acute gastric ulcer without hemorrhage and without perforation acute gastric ulcer without hemorrhage, without perforation AND without obstruction acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction bleeding acute gastric ulcer chronic gastric ulcer without hemorrhage AND without perforation chronic gastric ulcer without hemorrhage AND without perforation but with obstruction chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction	AGT ANGPT1 ANGPT2 BAD CAT CBLIF CFTR COL18A1 F13A1 FAS FASLG FOS FOXO4 HRH3 IDUA IL25 MMP13 MMP2 MMP3 MMP9 MUC5AC MUC6 NOS3 OXTR PTGER1 PTGS2 TEK TFF1 TIMP1	1080 11255 183 2162 2353 2694 284 285 3425 355 356 4303 4313 4314 4318 4322 4586 4588 4846 5021 572 5731 5743 64806 7010 7031 7076 80781 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112333	pontocerebellar hypoplasia type 16 Aliases: PCH16	MINPP1	9562	Homo sapiens (human)	Alliance of Genome Resources
DOID:3525	middle cerebral artery infarction	ABCC8 ACE2 ACE AGER AGT AIFM1 ALB AP2B1 APOE APP AQP4 BAD BAX BCAN BDNF C1QTNF6 C3 CALCA CAMK2A CASP6 CASP9 CD86 CREB1 CRTC1 CSF3 CXCR3 CYP2E1 DICER1 EGR1 EGR2 EIF2S1 ELANE EPCAM EPHB2 EPN1 EPO ERCC6 F12 FADD GAP43 GAPDH GDNF GHRL GHSR GLUL GRIN1 GSK3B HAS2 HDAC4 HDAC9 HIF1A HMGB1 HP HPR HSPA4 IL13 IL1RN IL4 IL5 IL6 IL7R IRF4 KCNN4 MAG MAPT MMP9 MTOR NAMPT NCAM1 NFE2L2 NGF NGFR NOD2 NOS2 NOX1 NRG1 OGG1 PARK7 PARP1 PAWR PDGFRA PDGFRB PLAT PTPRZ1 RGMA RPL28 RUNX1 SERPINE1 SERPINF1 SHH SIRT1 SLC12A2 SLC1A2 SLC2A1 SLC9A1 SMO SNAP91 SOD1 TGFB1 TNF TNFRSF1A TREM1 UPP1 VEGFA	10135 11315 114904 1385 142 1440 1571 163 1636 177 183 1958 1959 1965 1991 2048 2056 2074 213 2161 23373 23405 23411 2475 2596 2597 2668 2693 27035 2752 2833 2902 2932 29924 3037 3084 3091 3146 3240 3250 3308 348 351 3557 3565 3567 3569 3575 3596 361 3662 3783 4072 4099 4137 4318 4684 4780 4803 4804 4843 4968 5054 5074 5156 5159 51738 5176 5327 54210 56963 572 5803 581 59272 6158 627 63827 64127 6469 6506 6513 6548 6558 6608 6647 6833 7040 7124 7132 718 7378 7422 796 815 839 842 861 8772 9131 942 9734 9759 9892	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110677	congenital myasthenic syndrome 4B Aliases: CMS4B congenital myasthenic syndrome 4B fast-channel	CHRNE	1145	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070376	developmental and epileptic encephalopathy 31B Aliases: DEE31B	DNM1	1759	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050758	metabolic acidosis	DAB2 EDN1 MYH9 RHCG SLC38A3 SLC4A1	10991 1601 1906 4627 51458 6521	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111510	Marshall syndrome Aliases: MRSHS deafness, myopia, cataract, saddle nose-Marshall type	COL11A1	1301	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111190	distal myopathy 4 Aliases: MPD4 distal ABD-filaminopathy distal muscular dystrophy 4 distal myopathy with posterior leg and anterior hand involvement	FLNA FLNB FLNC	2316 2317 2318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080058	autosomal recessive spinocerebellar ataxia 14 Aliases: SCAR14	SPTBN2	6712	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080101	Compton-North congenital myopathy Aliases: congenital myopathy 12	CNTN1	1272	Homo sapiens (human)	Alliance of Genome Resources
DOID:10933	obsessive-compulsive disorder Aliases: Anancastic neurosis obsessive compulsive disorder	BDNF COMT CREB1 GDNF HRAS HTR2A SLC6A4	1312 1385 2668 3265 3356 627 6532	Homo sapiens (human)	Alliance of Genome Resources
DOID:2048	autoimmune hepatitis Aliases: Autoimmune chronic active hepatitis autoimmune hepatitis with centrilobular necrosis	ADIPOQ CTLA4 DNASE1 F2 FAS HLA-DPB1 HLA-DQB1 HLA-DRB1 HRAS IL21 IL2 IL4 KIR2DL2 PDCD1 PDIA3 STAT4 TNF VEGFA ZFHX3	1493 1773 2147 2923 3115 3119 3123 3265 355 3558 3565 3803 463 5133 59067 6775 7124 7422 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	ABCC6 CAT ELN ENPP1 GPX1 MMP2 SOD2 VEGFA XYLT1 XYLT2	2006 2876 368 4313 5167 64131 64132 6648 7422 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:1787	pericarditis	PRG4	10216	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060861	microphthalmia with limb anomalies Aliases: MLA OAS Waardenburg anophthalmia syndrome anophthalmia-syndactyly syndrome ophthalmoacromelic syndrome	SMOC1	64093	Homo sapiens (human)	Alliance of Genome Resources
DOID:13148	acute cystitis	LCN2	3934	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050686	organ system cancer	IL1R2	7850	Homo sapiens (human)	Alliance of Genome Resources
DOID:10112	sleeping sickness Aliases: African sleeping sickness African trypanosomiasis	FOS NOS2 PIGB	2353 4843 9488	Homo sapiens (human)	Alliance of Genome Resources
DOID:3307	teratoma	BAX CTNNB1 NME1 NME2 PGM1 PGM3 TERT TYMP WNT2B	1499 1890 4830 4831 5236 5238 581 7015 7482	Homo sapiens (human)	Alliance of Genome Resources
DOID:2477	motor peripheral neuropathy Aliases: HSMN HSMN - Hereditary sensory and motor neuropathy Hereditary motor and sensory neuropathy Peripheral Motor Neuropathy neuropathic muscular atrophy	EGR2 SLC12A6	1959 9990	Homo sapiens (human)	Alliance of Genome Resources

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