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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 **976 - 1000** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:2741	bilirubin metabolic disorder Aliases: hereditary hyperbilirubinemia hyperbilirubinemia	Ugt301D1 Ugt302K1 Ugt303A1 Ugt304A1 Ugt316A1 Ugt35A1 Ugt35C1 Ugt35E2 Ugt36A1 Ugt36D1 Ugt36E1 Ugt36F1 Ugt37A2 Ugt37A3 Ugt37B1 Ugt37C1 Ugt37D1 Ugt37E1 Ugt49B1 Ugt49B2	35105 35137 35138 35139 37420 40079 41334 41573 41574 42538 44058 53501 53502 53503 53506 53507 53511 53512 53583 53584	Drosophila melanogaster (fruit fly)
DOID:0111063	hyperphosphatemic familial tumoral calcinosis Aliases: HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia	Pgant1 Pgant3	35627 36717	Drosophila melanogaster (fruit fly)
DOID:3310	atopic dermatitis Aliases: Atopic neurodermatitis Besnier's prurigo allergic dermatitis atopic eczema	Tl	43222	Drosophila melanogaster (fruit fly)
DOID:219	colon cancer	Axn Calr Hs3st-B sgg	31248 32918 41166 43565	Drosophila melanogaster (fruit fly)
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	Plod beta3GalTII beta4GalT7	35848 39265 42991	Drosophila melanogaster (fruit fly)
DOID:0060806	syndromic X-linked intellectual disability Hedera type Aliases: MRXE MRXSH X-linked mental retardation with epilepsy mental retardation, X-linked, syndromic, Hedera type	ATP6AP2	41104	Drosophila melanogaster (fruit fly)
DOID:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	Hex-t1 Hex-t2	117364 43191	Drosophila melanogaster (fruit fly)
DOID:0050833	orotic aciduria	r-l	42493	Drosophila melanogaster (fruit fly)
DOID:1380	endometrial cancer Aliases: endometrial Ca endometrial neoplasm malignant endometrial neoplasm malignant neoplasm of endometrium neoplasm of endometrium primary malignant neoplasm of endometrium tumor of Endometrium	Idgf1 Idgf2 Idgf3 Idgf4 Idgf5 Idgf6 N Pgm1 Ugt301D1 Ugt302K1 Ugt303A1 Ugt304A1 Ugt316A1 Ugt35A1 Ugt35C1 Ugt35E2 Ugt36D1 Ugt36E1 Ugt36F1 Ugt37A3 Ugt37C1 Ugt37D1 Ugt37E1 Ugt49B2	31293 31926 34978 34979 34981 35105 35137 35138 35139 36868 37104 40079 41334 41574 42538 44010 53501 53502 53503 53506 53507 53511 53512 53583	Drosophila melanogaster (fruit fly)
DOID:11823	hepatorenal syndrome	Tl	43222	Drosophila melanogaster (fruit fly)
DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria Aliases: bilateral temporooccipital polymicrogyria	FIG4	33658	Drosophila melanogaster (fruit fly)
DOID:0110720	neuronal ceroid lipofuscinosis 4 Aliases: CLN4B disease autosomal dominant neuronal ceroid lipofuscinosis 4B neuronal ceroid lipofuscinosis 4 Parry type neuronal ceroid lipofuscinosis 4B	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP	1203 22901 2571 2572 3956 47 5310 5538 5660 7957 9374	Homo sapiens (human)
DOID:0080491	cerebral cavernous malformation 1	ACE B3GAT1 CEACAM5 CHI3L1 CYP2B6 GLO1 ICAM1 NCAM1 PTEN PTGIS PTGS2 STS	1048 1116 1555 1636 27087 2739 3383 412 4684 5728 5740 5743	Homo sapiens (human)
DOID:10154	small intestine cancer	ACACA ACE ACO1 APRT CAT CHGA CNTN4 COMT CS CYP1A2 DGCR2 DHRS11 DLST FH G6PD GUSB HPSE HSD17B7 IDH1 IDH2 L1CAM LGALS3 MDH2 MRC1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PTEN PTGS2 SDHA SDHB SDHC SDHD SMPD1 SMUG1 SORD UGT1A1	10855 1113 1312 142 1431 152330 1544 1636 1743 2271 23583 2539 2990 31 3417 3418 353 3897 3958 4191 4360 48 51478 5290 5291 5293 5294 5311 54658 5728 5743 6389 6390 6391 6392 6609 6652 79154 847 9993	Homo sapiens (human)
DOID:0110427	dilated cardiomyopathy 1V Aliases: CMD1V	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:3720	extramedullary plasmacytoma Aliases: extraosseous plasmacytoma plasmacytoma, extramedullary	CAT CD38 ICAM1 LPL NCAM1 PCYT1A PIGA PTEN SDC1 SMUG1 SOAT1	23583 3383 4023 4684 5130 5277 5728 6382 6646 847 952	Homo sapiens (human)
DOID:4194	glucose metabolism disease Aliases: disorder of glucose metabolism	ACSL1 DGKA DGKB DGKG DHCR24 G6PC1 GCK HK1 HK2 HK3 HKDC1 IRS2 PIK3CB PIK3CD SLC2A2 TLR4	1606 1607 1608 1718 2180 2538 2645 3098 3099 3101 5291 5293 6514 7099 80201 8660	Homo sapiens (human)
DOID:0111313	idiopathic generalized epilepsy 12 Aliases: EIG12	SLC2A1	6513	Homo sapiens (human)
DOID:0080572	congenital disorder of glycosylation Iw Aliases: congenital disorder of glycosylation 1w	STT3A STT3B	201595 3703	Homo sapiens (human)
DOID:715	obsolete T-cell lymphoblastic leukemia/lymphoma	CD209 CD38 CD44 CNTN2 COMT CYP19A1 FCGR3B FUT4 ICAM1 LGALS1 LGALS9 MRC1 MTAP NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN SACM1L SELL SIGLEC7 SOAT1 TALDO1 TMED9 VCAM1	1312 1588 2215 22908 2526 27036 30835 3383 3956 3965 4360 4507 4684 4860 5290 5291 5293 5294 54732 5728 6402 6646 6888 6900 7412 952 960	Homo sapiens (human)
DOID:0060306	Meier-Gorlin syndrome Aliases: ear-patella-short stature syndrome	ACHE CLEC7A COMT CYP4F3 FASN LYZ PIK3CA PIK3CG PLA2G4A PLCB1	1312 2194 23236 4051 4069 43 5290 5294 5321 64581	Homo sapiens (human)
DOID:0080443	developmental and epileptic encephalopathy 21 Aliases: DEE21 early infantile epileptic encephalopathy 21	CACNA2D2	9254	Homo sapiens (human)
DOID:0060688	arteriovenous malformations of the brain Aliases: cerebral arteriovenous malformation intracranial arteriovenous malformation	PCYT1A	5130	Homo sapiens (human)
DOID:5426	primary ovarian insufficiency Aliases: hypergonadotropic hypogonadism premature ovarian failure premature ovarian insufficiency	ACACA ACE ACOT7 ACSL6 BCKDHB CD38 COMT CYP17A1 CYP19A1 CYP1A1 CYP2B6 CYP2C19 CYP7A1 GALT HACD1 HSD17B4 IGF2R KL LGALS1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PMM2 PTEN PTGES XPNPEP2	11332 1312 1543 1555 1557 1581 1586 1588 1636 23305 2592 31 3295 3482 3956 5290 5291 5293 5294 5321 5373 5728 594 7512 9200 9365 952 9536	Homo sapiens (human)
DOID:0050885	IMAGe syndrome Aliases: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities	SGPL1	8879	Homo sapiens (human)

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