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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **7101 - 7125** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0111141	delayed sleep phase syndrome Aliases: DSPD	Cry1	12952	Mus musculus (house mouse)
DOID:0111454	SHORT syndrome Aliases: Aarskog-Ose-Pande syndrome Lipodystrophy-Rieger anomaly-diabetes syndrome Rieger anomaly-partial lipodystrophy syndrome short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay	Pik3r1	18708	Mus musculus (house mouse)
DOID:1849	cannabis dependence	Comt	24267	Rattus norvegicus (Norway rat)
DOID:1094	attention deficit hyperactivity disorder Aliases: ADHD attention deficit disorder hyperkinetic disorder	ACACA ACSL4 AGA ALDH2 ALG13 APRT ARSD ATP6V1A B4GALT2 CD38 CDH13 CHPT1 CNTFR CNTN1 CNTN5 CNTN6 COMT CPT2 CYP2B6 CYP3A4 CYP4F3 DGKH DHDDS FADS1 FADS2 GAD1 GNE GNPAT GPC6 HK1 HPRT1 HSPG2 IL1RAPL1 LGALS3 LMAN2L MAN2A2 MANBA MBOAT7 NANS NCAM1 NCAN NTM OCRL PC PI4K2B PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGDS SCD SDHA SDHD SLC2A3 SLC39A8 SMC3 SMPD1 SMUG1 ST3GAL3 STS STT3A SYNJ1 THEM4 UST	10020 10082 10090 1012 11141 117145 1271 1272 1312 1376 1463 1555 1576 160851 175 217 2182 23583 2571 27255 3098 31 3251 3339 353 3703 3958 3992 4051 412 4122 4126 414 4684 4952 50863 5091 523 5290 5291 5293 5294 53942 54187 55300 5621 56994 5728 5730 6319 6389 6392 64116 6487 6515 6609 79143 79868 79947 81562 8443 8704 8867 9126 9415 952	Homo sapiens (human)
DOID:0060878	hypoparathyroidism-deafness-renal disease syndrome Aliases: Barakat syndrome HDR syndrome hypoparathyroidism, sensorineural deafness, and renal disease	DGCR2 PARP1 STS	142 412 9993	Homo sapiens (human)
DOID:0070122	Meckel syndrome 8 Aliases: MKS8 Meckel-Gruber syndrome, type 8	ACE ALG8 ALG9 ARF4 HJV PKD1 PKD2 UMOD	148738 1636 378 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:14179	X-linked agammaglobulinemia Aliases: BTK deficiency Bruton agammaglobulinemia tyrosine kinase deficiency Bruton disease Bruton's Sex-Linked Agammaglobulinemia Bruton's agammaglobulinaemia Bruton's type agammaglobulinemia Bruton-type agammaglobulinemia	CD14 FCER2 FCGR3B GLA NT5E PIK3CA PIK3CB PIK3CD PIK3CG	2208 2215 2717 4907 5290 5291 5293 5294 929	Homo sapiens (human)
DOID:2030	anxiety disorder Aliases: anxiety anxiety state	ABAT ABO ACACA ACE ACHE ACSL4 ADH1B AKR1C1 AKR1C3 ALDH2 ALDH5A1 ALOX15 ALPL AMY1A AMY1B AMY1C ARSA ARSD ARSG ARSI B3GAT1 CAT CHGA CNTN3 COMT CPM CYP17A1 CYP1A1 CYP1A2 CYP2B6 CYP2C19 CYP2E1 CYP3A5 ENO1 FDPS FIG4 GAD1 GAD2 GALNS GLA GLO1 GLT8D1 GM2A GOLPH3 GPNMB HPSE HS6ST1 HSD11B2 HSPG2 INPP5K L1CAM LGALS3 LIPA LYPD6 MANEA MGLL MPI NANS NDST3 NPY1R NT5E OCRL PAFAH1B1 PARP1 PC PCCB PCYT1A PIK3CA PMM2 PRNP PTEN PTGS2 SDHD SIRT6 SLC33A1 SLC35C1 SMC3 SMPD1 SMUG1 SPHK1 SRD5A1 UGT2B15 UMOD	10457 10855 1113 11343 125 130574 1312 1368 142 1543 1544 1555 1557 1571 1577 1586 1636 1645 18 2023 217 2182 2224 22901 23583 246 249 2571 2572 2588 27087 2717 2739 276 2760 277 278 28 31 3291 3339 340075 3897 3958 3988 410 414 43 4351 4886 4907 4952 5048 5067 5091 5096 5130 51548 51763 5290 5373 54187 55343 55830 5621 5728 5743 6392 64083 6609 6715 7366 7369 7915 79694 847 8644 8877 9126 9197 9348 9394 9896	Homo sapiens (human)
DOID:7587	supraglottis squamous cell carcinoma Aliases: Epidermoid carcinoma of the Supraglottis	PTEN	5728	Homo sapiens (human)
DOID:633	myositis Aliases: Inflammatory disorder of muscle	ACADL ACE ACHE ALOX5 APRT ARSF CD177 CD55 CD74 CHI3L1 COMT CPT2 CRPPA DAG1 DGKQ DSE ENO3 EXT1 FKRP FKTN GALNS GLA GNE HADHA HADHB HPGDS HPRT1 HSD11B1 HSPG2 IL1RAPL2 KL LALBA LDHA LPIN1 LPIN2 MBL2 MRC1 PIGT PIK3C2A PKM PNPLA2 POMT1 PTGS1 PTGS2 SLC17A5 SMUG1 TNF	10020 10585 1116 1312 1376 1604 1605 1609 1636 2027 2131 2218 23175 23583 240 2588 26280 26503 2717 27306 29940 3030 3032 3251 3290 33 3339 353 3906 3939 4153 416 43 4360 51604 5286 5315 57104 57126 5742 5743 7124 729920 79147 9365 9663 972	Homo sapiens (human)
DOID:4006	bladder urothelial carcinoma Aliases: bladder transitional cell carcinoma transitional cell carcinoma of bladder urinary bladder urothelial carcinoma urothelial bladder carcinoma	CD44 CDH13 CHI3L1 CYB5R3 CYP1A1 CYP1A2 ENO2 FUT4 GLB1 HPGDS IDH1 LGALS1 LGALS3 LGALS9 MRC1 NEU1 OPCML PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PRSS8 PTEN PTGS2 SDC1 SULF1	1012 1116 142 1543 1544 1727 2026 23213 2526 2720 27306 3417 3956 3958 3965 4360 4758 4978 5290 5291 5293 5294 5652 5728 5743 6382 960	Homo sapiens (human)
DOID:6612	leukocyte adhesion deficiency Aliases: Congenital leukocyte adherence deficiency	DHCR7 DLD FUT4 KLRK1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SLC2A10 SLC35C1 VCAM1	1717 1738 22914 2526 5290 5291 5293 5294 55343 5728 7412 81031	Homo sapiens (human)
DOID:4331	burning mouth syndrome Aliases: Orodynia Stomatopyrosis	ACE CD14	1636 929	Homo sapiens (human)
DOID:10112	sleeping sickness Aliases: African sleeping sickness African trypanosomiasis	ACHE DDOST GAPDH MTAP PIGB SMUG1 STT3A STT3B	1650 201595 23583 2597 3703 43 4507 9488	Homo sapiens (human)
DOID:0080693	Noonan syndrome-like disorder with loose anagen hair 2	GLC7	856870	Saccharomyces cerevisiae S288C
DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q Aliases: CMT2Q Charcot-Marie-Tooth neuropathy type 2Q autosomal dominant Charcot-Marie-Tooth disease type 2Q autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q	CG1544	43689	Drosophila melanogaster (fruit fly)
DOID:11589	Riley-Day syndrome Aliases: HSAN III familial autonomic nervous dysfunction familial dysautonomia	GLA HMGCS2 ICAM1 SPTLC1	10558 2717 3158 3383	Homo sapiens (human)
DOID:3069	malignant astrocytoma Aliases: Astrocytic tumor astrocytoma of Cerebrum astrocytoma of brain astroglioma cerebral astrocytoma	Akt1 Akt2 Braf	109880 11651 11652	Mus musculus (house mouse)
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	ogt.1 ogt.2	337685 652952	Danio rerio (zebrafish)
DOID:9719	neovascular inflammatory vitreoretinopathy Aliases: ADNIV Retinitis proliferans autosomal dominant neovascular inflammatory vitreoretinopathy proliferative vitreoretinopathy	Lrp5	16973	Mus musculus (house mouse)
DOID:11054	urinary bladder cancer Aliases: bladder cancer tumor of the bladder	ENO1 ENO2 HXK1 RHO1	850614 853169 856294 856579	Saccharomyces cerevisiae S288C
DOID:3307	teratoma	PCM1 PGM1 PGM2	853732 855131 856652	Saccharomyces cerevisiae S288C
DOID:0070269	congenital disorder of glycosylation type IIq Aliases: CDG IIq CDG2Q CDGIIdq COG2-CDG COG2-related congenital disorder of glycosylation	COG2	22796	Homo sapiens (human)
DOID:0090016	chromosome 5q deletion syndrome Aliases: 5q- syndrome, refractory macrocytic anemia due to 5q deletion myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	ANXA5 CD14 CD74 HMMR	308 3161 929 972	Homo sapiens (human)
DOID:0050527	obsolete familial hypertriglyceridemia	LPL	4023	Homo sapiens (human)

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