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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 **6626 - 6650** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0111105	maturity-onset diabetes of the young type 8 Aliases: MODY type 8 MODY8 diabetes and pancreatic exocrine maturity-onset diabetes of the young type 8 with exocrine dysfunction	CEL	1056	Homo sapiens (human)
DOID:0090086	hypogonadotropic hypogonadism 6 with or without anosmia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:13375	temporal arteritis Aliases: Horton's disease giant cell arteritis	Chi3l1 Tlr4	12654 21898	Mus musculus (house mouse)
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	Dhtkd1	361272	Rattus norvegicus (Norway rat)
DOID:10688	hypertrophy of breast Aliases: breasts enlarged large breast	CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP3A4 HS6ST1 HSD17B3 HSD3B2 PIK3CA PNPLA6 PTEN SDHB SDHC SDHD SMUG1	10908 1576 1583 1584 1586 1588 1589 23583 3284 3293 5290 5728 6390 6391 6392 9394	Homo sapiens (human)
DOID:0070318	dry beriberi	CHAT SLC35F3 TKT	1103 148641 7086	Homo sapiens (human)
DOID:2283	keratopathy	ICAM1 VCAM1	3383 7412	Homo sapiens (human)
DOID:9808	Goodpasture syndrome Aliases: anti-GBM disease anti-glomerular basement membrane disease	ABO ACE B3GAT1 CEL CHI3L1 CYP19A1 CYP21A2 FCGR3B GBA3 GLA INPP4B KLRB1 MICA NAAA NT5E PARP9 PTEN SELP SLC27A5 SMUG1 TPI1 VCAM1	100507436 1056 10998 1116 1588 1589 1636 2215 23583 27087 27163 2717 28 3820 4907 5728 57733 6403 7167 7412 83666 8821	Homo sapiens (human)
DOID:11206	opioid abuse	NCAM1	4684	Homo sapiens (human)
DOID:678	progressive supranuclear palsy Aliases: Steele-Richardson-Olszewski syndrome progressive supranuclear ophthalmoplegia	Ogg1	81528	Rattus norvegicus (Norway rat)
DOID:0110538	autosomal recessive nonsyndromic deafness 96 Aliases: DFNB96 autosomal recessive deafness 96	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:6759	bone lymphoma Aliases: Lymphoma of the bone lymphoma of bone	SMUG1	23583	Homo sapiens (human)
DOID:0080562	congenital disorder of glycosylation Ij Aliases: Congenital disorder of glycosylation 1j	Dpagt1	13478	Mus musculus (house mouse)
DOID:0111527	spinal muscular atrophy with progressive myoclonic epilepsy Aliases: Jankovic-Rivera syndrome SMA-PME SMAPME hereditary myoclonus-progressive distal muscular atrophy syndrome	ASAH1	427	Homo sapiens (human)
DOID:440	neuromuscular disease	PGI1	852495	Saccharomyces cerevisiae S288C
DOID:0050746	mantle cell lymphoma	CD74 FASN FCER2 FH FMOD FUT1 HACD1 HPGDS MRC1 MTAP PARP1 PIK3CA PIK3CB PIK3CD PIK3CG SLC35B2 SMUG1	142 2194 2208 2271 2331 23583 2523 27306 347734 4360 4507 5290 5291 5293 5294 9200 972	Homo sapiens (human)
DOID:0110442	dilated cardiomyopathy 1Q Aliases: CMD1Q	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:9643	babesiosis Aliases: Babesiasis Infection by babesia piroplasmosis	UMOD	7369	Homo sapiens (human)
DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2 Aliases: MDDGA2 Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2	tw	31024	Drosophila melanogaster (fruit fly)
DOID:0060781	congenital secretory sodium diarrhea 3 Aliases: congenital secretory sodium diarrhea 3 syndromic congenital secretory sodium diarrhea 3 with or without other congenital anomalies congenital secretory sodium diarrhoea 3 congenital secretory sodium diarrhoea 3 syndromic congenital secretory sodium diarrhoea 3 with or without other congenital anomalies	CALR DGAT1 PTGS2	5743 811 8694	Homo sapiens (human)
DOID:4481	allergic rhinitis Aliases: Non-seasonal allergic rhinitis Perenial allergic rhinitis atopic rhinitis hay fever pollenosis seasonal allergic rhinitis	ABO ACACA ACE ADH1B AGXT AKR1B1 AMY1A AMY1B AMY1C CAT CD14 CHI3L1 CHIA CHIT1 CLC CLEC16A CTBS ENPP3 HACD1 ICAM1 IL18R1 IL1RL1 IL1RL2 KLB KLRC1 LGALS3 LTC4S LYZ MBL2 NEU1 NEU2 NT5E PARP1 PCYT1B PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G7 PLB1 PLCG2 PTGS2 SFTPA1 SFTPA2 SFTPD SIGLEC7 SOAT1 ST8SIA2 TLR2 TLR4 UGT8	1116 1118 1178 125 142 1486 151056 152831 1636 189 231 23274 27036 27159 276 277 278 28 31 3383 3821 3958 4056 4069 4153 4758 4759 4907 5169 5238 5290 5291 5293 5294 5319 5336 5743 6441 653509 6646 7097 7099 729238 7368 7941 8128 847 8808 8809 9173 9200 929 9468	Homo sapiens (human)
DOID:2907	Goldenhar syndrome Aliases: Facio-auriculo-vertebral spectrum First AND second branchial arch syndrome First arch syndrome HEMIFACIAL MICROSOMIA OAV (oculoauriculovertebral) dysplasia Otomandibular dysostosis	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E PLCD3 SLC26A2	1109 113026 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:1588	thrombocytopenia	GAL10	852307	Saccharomyces cerevisiae S288C
DOID:0080784	urinary tract infection Aliases: UTI	TLR2 TLR4	7097 7099	Homo sapiens (human)
DOID:1824	status epilepticus Aliases: Grand mal status	IDP2 IDP3 OGG1	850871 854942 855723	Saccharomyces cerevisiae S288C

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