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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 **4251 - 4275** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110336	osteogenesis imperfecta type 8 Aliases: OI8 osteogenesis imperfecta type VIII	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)	DisGeNET
DOID:0060455	Thiel-Behnke corneal dystrophy Aliases: TBCD Waardenburg-Jonker corneal dystrophy anterior limiting membrane dystrophy type II corneal dystrophy honeycomb-shaped corneal dystrophy of Bowman layer type II	ACOT8	10005	Homo sapiens (human)	DisGeNET
DOID:0080750	erythema nodosum	TNF	7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060303	complement component 9 deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	Homo sapiens (human)	DisGeNET
DOID:612	primary immunodeficiency disease Aliases: hypoimmunity immune deficiency disorder immunodeficiency syndrome	ACSBG1 AGL AGPAT2 AKR1B10 APRT ARSA BST2 CALR CD14 CD33 CD38 CD44 CEACAM5 CLEC16A CLEC9A CMAS COG6 COMT CYP2B6 DLD FASN FCN2 FCN3 G6PC3 G6PD GAA GLB1 GPC3 GPI HPSE HSD17B7 ICAM1 IDH1 IL18R1 IL6ST KLRD1 LGALS1 LGALS3 MAN2B2 MBL2 MICA MLYCD MMUT NT5E OAS1 PARP1 PGM3 PIGQ PIK3CA PIK3CB PIK3CD PIK3CG PLD1 PNP PPT1 PRPS1 PTEN PTGS1 PTGS2 SCD5 SDC1 SOAT1 ST6GAL1 ST8SIA1 TLR4 UNG VTCN1	100507436 1048 10555 10855 1312 142 1555 1738 178 2194 2220 23205 23274 23324 23417 2539 2548 2719 2720 2821 283420 3383 3417 353 3572 3824 3956 3958 410 4153 4594 4860 4907 4938 51478 5238 5290 5291 5293 5294 5337 5538 55907 5631 57016 5728 5742 5743 57511 6382 6480 6489 6646 684 7099 7374 79679 79966 811 8547 8809 9091 92579 929 945 952 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110196	Charcot-Marie-Tooth disease type 4G Aliases: CMT4G Charcot-Marie-Tooth neuropathy type 4G HMSNR autosomal recessive Charcot-Marie-Tooth disease type 4G hereditary motor and sensory neuropathy Russe type	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:5325	Roberts syndrome Aliases: LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE RBS Roberts-Sc Phocomelia Syndrome SC phocomelia syndrome	MELTF SMC3	4241 9126	Homo sapiens (human)	DisGeNET
DOID:0050450	Gitelman syndrome Aliases: HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA	PTGS2	5743	Homo sapiens (human)	DisGeNET
DOID:1070	primary open angle glaucoma Aliases: chronic simple glaucoma	ABO ACE ACOT7 ADIPOQ AKR1B1 ANXA5 ARSD B4GALT3 CACNA2D1 CAT CD38 CNTN4 CYP1A1 CYP1B1 CYP27A1 CYP2C19 CYP46A1 DCN DGKD ELOVL5 GALC GAS1 GLB1 GLUL GMDS HAS2 HK2 HPGDS IDH3A MBL2 MUTYH NTM OGG1 PARP1 PLA2G4A PLB1 PLCE1 PMM2 PRNP PTEN PTGS1 PTGS2 SOAT1 SULT1E1 TLR4 TMTC2 TNF TP53	10858 11332 142 151056 152330 1543 1545 1557 1593 160335 1634 1636 231 2581 2619 2720 27306 2752 2762 28 3037 308 3099 3419 414 4153 4595 4968 50863 51196 5321 5373 5621 5728 5742 5743 60481 6646 6783 7099 7124 7157 781 847 8527 8703 9370 952	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	PGK1	5230	Homo sapiens (human)	Alliance of Genome Resources
DOID:4231	histiocytoma	KLRK1 MTAP	22914 4507	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4866	salivary gland adenoid cystic carcinoma Aliases: Cylindroma	ACACA ACACB CD44 CNTN6 GPC3 HSPG2 ICAM5 IDH1 ISYNA1 LGALS3 LYZ NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 PYGB RECK SDC1 SMUG1 ST3GAL4 VCAN	1462 23583 2719 27255 31 32 3339 3417 3958 4069 4684 51477 5290 5291 5293 5294 5728 5743 5834 6382 6484 7087 8434 960	Homo sapiens (human)	DisGeNET
DOID:0110552	autosomal dominant nonsyndromic deafness 22 Aliases: DFNA22 autosomal dominant deafness 22	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)	DisGeNET
DOID:0060451	Meesmann corneal dystrophy Aliases: MECD Stocker-Holt dystrophy juvenile hereditary epithelial dystrophy	CAT MLYCD	23417 847	Homo sapiens (human)	DisGeNET
DOID:5693	adult liposarcoma	CPM FASN GPNMB PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PNPLA3 PTEN SDC1 SMUG1 STS	10457 1368 2194 23583 412 5290 5291 5293 5294 57104 5728 6382 80339	Homo sapiens (human)	DisGeNET
DOID:0110496	autosomal recessive nonsyndromic deafness 38 Aliases: DFNB38 autosomal recessive deafness 38	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)	DisGeNET
DOID:0080736	Ehlers-Danlos syndrome musculocontractural type 1	CHST14	113189	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:1664	pineoblastoma Aliases: Pineal PNET	CHGA ENO2	1113 2026	Homo sapiens (human)	DisGeNET
DOID:0050448	white sponge nevus Aliases: hereditary mucosal leukokeratosis white sponge nevus of Cannon	ALDH2 CYP1A1 CYP1B1 CYP2E1 HPGDS LGALS1 LYZ OGG1 PTGS2	1543 1545 1571 217 27306 3956 4069 4968 5743	Homo sapiens (human)	DisGeNET
DOID:0050598	extrapulmonary tuberculosis	CD209	30835	Homo sapiens (human)	Alliance of Genome Resources
DOID:10021	duodenum cancer Aliases: Duodenal cancer cancer of duodenum duodenal neoplasm	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)	DisGeNET DisGeNET DisGeNET
DOID:0081381	juvenile amyotrophic lateral sclerosis type 27	SPTLC1	10558	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080352	X-linked chondrodysplasia punctata 2 Aliases: Conradi-Hunermann Syndrome Happle syndrome	DHCR24 EBP FDFT1 GNPAT NSDHL STS	10682 1718 2222 412 50814 8443	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050625	biliary tract benign neoplasm Aliases: extrahepatic bile duct neoplasm neoplasm of extrahepatic bile ducts tumor of the extrahepatic bile duct	MTAP	4507	Homo sapiens (human)	Alliance of Genome Resources
DOID:2236	congenital afibrinogenemia Aliases: Factor I deficiency Fibrinogen deficiency	LMAN1 MCFD2 NGLY1 PC	3998 5091 55768 90411	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET

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