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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 **1926 - 1950** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:10242	ehrlichiosis Aliases: human ehrlichiosis	PSMD10	5716	Homo sapiens (human)	DisGeNET
DOID:3012	Li-Fraumeni syndrome Aliases: LFS Li-Fraumeni Familiar cancer Susceptibility syndrome SBLA syndrome sarcoma, breast, leukaemia and adrenal gland syndrome	CD44 CYP19A1 DCN IDH1 PKM PTEN TP53	1588 1634 3417 5315 5728 7157 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111503	Li-Fraumeni syndrome 1 Aliases: LFS1	CD44 CYP19A1 DCN IDH1 PKM PTEN TP53	1588 1634 3417 5315 5728 7157 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4411	hepatitis E	BST2 CYP1A1 EXT1 HPGDS HSPG2 PSAP	1543 2131 27306 3339 5660 684	Homo sapiens (human)	DisGeNET
DOID:13366	Stiff-Person syndrome Aliases: Stiff-man syndrome stiff man syndrome	GAD1 GAD2 GLUL HSD17B4 ISYNA1 PLA2G1B PLA2G2A PLA2G6	2571 2572 2752 3295 51477 5319 5320 8398	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:9245	Alagille syndrome Aliases: Alagille-Watson syndrome Arteriohepatic dysplasia	GGT1 NAAA	2678 27163	Homo sapiens (human)	DisGeNET
DOID:2988	antiphospholipid syndrome Aliases: APS antiphospholipid antibody syndrome	ANXA5 CALR CD1D GPI IDS LCT LGALS9 MBL2 PC SELP	2821 308 3423 3938 3965 4153 5091 6403 811 912	Homo sapiens (human)	DisGeNET DisGeNET
DOID:13482	Proteus syndrome Aliases: Wiedemann's syndrome	AKT1 GPC3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELE SELP	207 2719 5290 5291 5293 5294 5728 6401 6403	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:14256	adult-onset Still's disease Aliases: adult onset Still's disease adult-onset Still disease	CLEC7A GCK ICAM1 SELL SMUG1	23583 2645 3383 6402 64581	Homo sapiens (human)	DisGeNET
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)	DisGeNET DisGeNET DisGeNET
DOID:11714	gestational diabetes Aliases: GDM Gestational diabetes mellitus Maternal gestational diabetes mellitus	ABO ACACA ACE ACOT7 ADIPOQ AGA APOD ATP6AP2 B3GAT1 CAT CD209 CD44 CYB5R4 CYP19A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP7A1 DCN DGAT1 ENPP1 FADS1 FASN FCN2 FCN3 FOLR2 G6PC1 G6PC2 GAD1 GAD2 GAS1 GCK GGT1 GLO1 GPX1 GYS2 HKDC1 HPSE2 HSD11B1 HSD11B2 HSPG2 ICAM1 IL1R1 INS KLB LCT LDHA LEP LGALS1 LIPG LPIN1 LPL MBL2 MCAT MGAT1 MGAT2 MGLL MICA NAMPT NANS OGA OGG1 OLR1 PCK1 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PLA2G7 PNPLA2 PNPLA3 PRKAA2 PTEN PTGS2 RBP4 SCD SDHC SFTPC SLC2A2 SLC2A3 SLC2A4 SOAT1 ST3GAL4 ST6GALNAC3 VCAM1	100507436 10135 10159 10724 11332 11343 120227 152831 1545 1581 1588 1591 1594 1634 1636 175 200576 2194 2220 23175 2350 2538 256435 2571 2572 2619 2645 2678 27087 27349 2739 28 2876 2998 30835 31 3290 3291 3339 3383 347 3554 3630 3938 3939 3952 3956 3992 4023 4153 4245 4247 4968 4973 5105 51167 5167 5290 5291 5293 5294 54187 5563 57104 5728 5743 57818 5950 60495 6319 6391 6440 6484 6514 6515 6517 6646 7412 7941 80201 80339 847 8547 8694 9370 9388 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:998	eosinophilia-myalgia syndrome Aliases: Eosinophilia myalgia syndrome	CAT	847	Homo sapiens (human)	DisGeNET
DOID:2411	granular cell tumor Aliases: neoplasm of granular cell	ATP6AP2 FASN PTEN	10159 2194 5728	Homo sapiens (human)	DisGeNET
DOID:0060167	seasonal affective disorder Aliases: winter depression	ACE AMY1A AMY1B AMY1C COMT GAD1	1312 1636 2571 276 277 278	Homo sapiens (human)	DisGeNET
DOID:3540	choroid plexus cancer Aliases: tumor of choroid plexus tumor of the Choroid Plexus	ENPP2 PLAUR	5168 5329	Homo sapiens (human)	DisGeNET
DOID:5812	MHC class II deficiency Aliases: BLSII SCID due to absent class II HLA antigens bare lymphocyte syndrome type II	AMACR CD38 CEACAM5 CEACAM7 CYP2J2 EXTL3 FUT1 GPC5 HPSE IL18R1 LDHC LGALS1 MELTF NCAM1 NT5E PARP1 PDHX PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN PTGS2 SOAT1 SRGN	1048 10855 1087 142 1573 2137 2262 23600 2523 3948 3956 4241 4684 4860 4907 5238 5290 5291 5293 5294 5552 5728 5743 6646 8050 8809 952	Homo sapiens (human)	DisGeNET DisGeNET
DOID:627	severe combined immunodeficiency Aliases: SCID combined T and B cell inborn immunodeficiency	AMACR CD38 CEACAM5 CEACAM7 CYP2J2 EXTL3 FUT1 GPC5 HPSE IL18R1 LDHC LGALS1 MELTF NCAM1 NT5E PARP1 PDHX PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN PTGS2 SOAT1 SRGN	1048 10855 1087 142 1573 2137 2262 23600 2523 3948 3956 4241 4684 4860 4907 5238 5290 5291 5293 5294 5552 5728 5743 6646 8050 8809 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:5810	adenosine deaminase deficiency Aliases: ADA	AMACR CD38 CEACAM5 CEACAM7 CYP2J2 EXTL3 FUT1 GPC5 HPSE IL18R1 LDHC LGALS1 MELTF NCAM1 NT5E PARP1 PDHX PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN PTGS2 SOAT1 SRGN	1048 10855 1087 142 1573 2137 2262 23600 2523 3948 3956 4241 4684 4860 4907 5238 5290 5291 5293 5294 5552 5728 5743 6646 8050 8809 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:11382	corneal neovascularization	COMT CYP1B1 DCN GLB1 ICAM1 LGALS3 NGLY1	1312 1545 1634 2720 3383 3958 55768	Homo sapiens (human)	DisGeNET
DOID:0060194	amyotrophic lateral sclerosis type 2 Aliases: ALS2 amyotrophic lateral sclerosis 2 amyotrophic lateral sclerosis 2, juvenile	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 TIGAR TMED9	10462 10724 10908 2220 23098 2674 3074 3099 353 427 43 4907 54732 57103 847 9896	Homo sapiens (human)	DisGeNET
DOID:0060196	amyotrophic lateral sclerosis type 4 Aliases: ALS 4 amyotrophic lateral sclerosis 4 amyotrophic lateral sclerosis 4, juvenile dHMN with upper motor neuron signs distal hereditary motor neuropathy with pyramidal features distal hereditary motor neuropathy with upper motor neuron signs	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 TIGAR TMED9	10462 10724 10908 2220 23098 2674 3074 3099 353 427 43 4907 54732 57103 847 9896	Homo sapiens (human)	DisGeNET
DOID:0060193	amyotrophic lateral sclerosis type 1 Aliases: ALS1 amyotrophic lateral sclerosis 1	ACACA ACHE ALG1 ALPI ALPP APRT ASAH1 CAT CHI3L1 CLEC10A CNTN4 CYP27A1 FCN2 FIG4 GFRA1 GPX1 HEXB HK2 INPP4B MASP1 NT5E OGA OPCML OTOG PNPLA6 RTN4R SARM1 SLC17A5 SLC33A1 TIGAR TMED9	10462 10724 10908 1116 152330 1593 2220 23098 248 250 26503 2674 2876 3074 3099 31 340990 353 427 43 4907 4978 54732 56052 5648 57103 65078 847 8821 9197 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0111064	autosomal recessive distal hereditary motor neuronopathy 1 Aliases: DSMA1 SIANRF SMARD1 autosomal recessive distal spinal muscular atrophy 1 autosomal recessive spinal muscular atrophy with respiratory distress dHMN6 diaphragmatic spinal muscular atrophy distal hereditary motor neuropathy type 6 distal spinal muscular atrophy 1 distal-HMN type 6 severe infantile axonal neuropathy with respiratory failure type 1 spinal muscular atrophy with respiratory distress type 1	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 FUT4 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 TIGAR TMED9	10462 10724 10908 2220 23098 2526 2674 3074 3099 353 427 43 4907 54732 57103 847 9896	Homo sapiens (human)	DisGeNET DisGeNET
DOID:231	motor neuron disease	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 GAL3ST1 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 SLC35A1 TIGAR TMED9	10462 10559 10724 10908 2220 23098 2674 3074 3099 353 427 43 4907 54732 57103 847 9514 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:230	lateral sclerosis Aliases: adult-onset primary lateral sclerosis primary lateral sclerosis	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 GAL3ST1 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 SLC35A1 TIGAR TMED9	10462 10559 10724 10908 2220 23098 2674 3074 3099 353 427 43 4907 54732 57103 847 9514 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET

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