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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 **3976 - 4000** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:13620	patent foramen ovale Aliases: Atrial septal defect within oval fossa Defect, Patent or persistent, ostium secundum Ostium secundum type atrial septal defect Persistent ostium secundum foramen ovale patent	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)
DOID:0080556	congenital disorder of glycosylation Id Aliases: congenital disorder of glycosylation 1d	alg3	100127746	Xenopus tropicalis (tropical clawed frog)
DOID:9743	diabetic neuropathy	Tl	43222	Drosophila melanogaster (fruit fly)
DOID:4479	pseudohypoaldosteronism	MRC1	4360	Homo sapiens (human)
DOID:2228	thrombocytosis Aliases: Thrombocythaemia	Calr	41166	Drosophila melanogaster (fruit fly)
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	B3GALT6	126792	Homo sapiens (human)
DOID:104	bacterial infectious disease	OST3	854252	Saccharomyces cerevisiae S288C
DOID:0110469	autosomal recessive nonsyndromic deafness 14 Aliases: DFNB14 autosomal recessive deafness 14	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:3206	plexiform schwannoma Aliases: Plexiform Neurinoma Plexiform neurilemmoma	ARSA B3GAT1 CAT CD44 CYP2E1 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGS2 SIGLEC7 STS TMEM165 VCAN	1462 1571 27036 27087 410 412 4684 5290 5291 5293 5294 55858 5621 5728 5743 847 960	Homo sapiens (human)
DOID:0050881	inclusion body myopathy with Paget disease of bone and frontotemporal dementia Aliases: IBMPFD inclusion body myopathy with Paget's disease of bone and frontotemporal dementia	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:2256	osteochondrodysplasia Aliases: Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia	CG9550 Tsp trol	33913 33941 45320	Drosophila melanogaster (fruit fly)
DOID:7998	hyperthyroidism Aliases: overactive thyroid	ATG26 CIT1 CIT2 CIT3	850361 850886 855732 856107	Saccharomyces cerevisiae S288C
DOID:2394	ovarian cancer Aliases: malignant Ovarian tumor malignant tumour of ovary ovarian neoplasm ovary neoplasm primary ovarian cancer tumor of the Ovary	ATG26 CTS2 OGG1	850886 851977 854942	Saccharomyces cerevisiae S288C
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	c1galt1c1	324052	Danio rerio (zebrafish)
DOID:0111341	primary failure of tooth eruption Aliases: PFE dental noneruption familial posterior openbite malocclusion nonsyndromic primary failure of eruption primary retention of teeth unerupted second primary molar	CYP17A1	1586	Homo sapiens (human)
DOID:5408	Paget's disease of bone Aliases: Paget disease of bone Paget's bone disease osseous Paget's disease osteitis deformans	CEACAM5 GNE IL1R1 INPP5D NEU1 PIGN	10020 1048 23556 3554 3635 4758	Homo sapiens (human)
DOID:9007	sudden infant death syndrome Aliases: Cot death Crib death SIDS Sudden death of nonspecific cause in infancy	ACADM B3GAT1 CD14 CHAT CPT1A CYP1A1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP4F3 EPHX2 FUT2 G6PC1 GPD1L HADHA HPGDS IDS MBL2 PIK3CA PRNP SFTPD SI SLC37A4	1103 1374 1543 1555 1557 1558 1559 2053 23171 2524 2538 2542 27087 27306 3030 34 3423 4051 4153 5290 5621 6441 6476 929	Homo sapiens (human)
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	Alg10	326193	Drosophila melanogaster (fruit fly)
DOID:3883	Lynch syndrome Aliases: COCA 1 HNPCC - hereditary nonpolyposis colon cancer Hereditary Defective Mismatch Repair syndrome Hereditary non-polyposis colon cancer Hereditary non-polyposis colon cancer syndrome Hereditary non-polyposis colorectal cancer Hereditary non-polyposis colorectal cancer syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colon cancer syndrome Hereditary nonpolyposis colorectal cancer syndrome hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal neoplasm	ARSA ARSI BAAT CD44 CEACAM5 CEACAM7 COMT CYP17A1 CYP1A1 CYP1B1 IGF2R MRC1 MUTYH NDUFAB1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2	1048 1087 1312 142 1543 1545 1586 340075 3482 410 4360 4595 4706 5290 5291 5293 5294 570 5728 5743 960	Homo sapiens (human)
DOID:12603	acute leukemia Aliases: Stem cell Leukemia Stem cell leukaemia	ABO ACE ALOX15 CALR CD14 CD22 CD33 CD38 CD55 CD93 CLEC12A COLEC10 CRYL1 CYP1A1 CYP2B6 CYP3A4 CYP3A5 FUT4 HACD1 HPGDS HPRT1 HPSE2 IDH1 IDH2 IDUA IL1RL1 INPP5D KLRK1 LGALS1 NAAA NCAM1 OGG1 PARP1 PIGL PIK3CA PIK3CB PIK3CD PIK3CG PLA2R1 SELE SIGLEC7 SMUG1 SOAT1 STS UNG VCAN XYLT2	10584 142 1462 1543 1555 1576 1577 160364 1604 1636 22914 22918 22925 23583 246 2526 27036 27163 27306 28 3251 3417 3418 3425 3635 3956 412 4684 4968 51084 5290 5291 5293 5294 60495 6401 64132 6646 7374 811 9173 9200 929 933 945 9487 952	Homo sapiens (human)
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	Enpp1	18605	Mus musculus (house mouse)
DOID:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	ndst1a ndst1b	100329944 570459	Danio rerio (zebrafish)
DOID:13034	relapsing fever	CYP11B2 CYP21A2 GALC LPIN2	1585 1589 2581 9663	Homo sapiens (human)
DOID:3463	breast disease	CYP11A1 CYP17A1 HSD17B1 PTEN PTGES	1583 1586 3292 5728 9536	Homo sapiens (human)
DOID:11714	gestational diabetes Aliases: GDM Gestational diabetes mellitus Maternal gestational diabetes mellitus	EMI2 GLK1 HXK1 HXK2 OGG1	850317 850614 852128 852639 854942	Saccharomyces cerevisiae S288C

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