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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 **4776 - 4800** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:14768	Saethre-Chotzen syndrome	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:0110507	autosomal recessive nonsyndromic deafness 5 Aliases: DFNB5 autosomal recessive deafness 5	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:11104	spotted fever Aliases: Spotted fever group rickettsial disease	CS	1431	Homo sapiens (human)	DisGeNET
DOID:10969	hemiplegia Aliases: Infantile hemiplegia Postnatal infantile hemiplegia	ACHE ACSM1 ACSM2A ALPP ARSA ARSD ATRNL1 CAT CD109 CYP24A1 CYP3A4 EFNA5 GAD1 GCDH GMDS GPX1 HPRT1 IDH1 IDH2 IDUA MBL2 MECR MRC1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PTGS1 PTGS2 RENBP SOAT1 ST3GAL5 TIGAR TKTL1 UGT1A1	116285 123876 135228 1576 1591 1946 250 2571 26033 2639 2762 2876 3251 3417 3418 3425 410 414 4153 43 4360 51102 5160 5290 5291 5293 5294 5373 54658 57103 5742 5743 5973 6646 8277 847 8869	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060648	anterior segment dysgenesis Aliases: anterior segment developmental anomaly corneal opacification and other ocular anomalies sclerocornea with other ocular anomalies	CYP1B1	1545	Homo sapiens (human)	DisGeNET
DOID:11079	leech infestation Aliases: Hirudiniasis Leeches	ACO1 ALOX12 CD44 DGAT1 FDPS FUT2 FUT3 GPAT3 HSPG2 ICAM1 IL18R1 MICA TPI1	100507436 2224 239 2524 2525 3339 3383 48 7167 84803 8694 8809 960	Homo sapiens (human)	DisGeNET
DOID:0060854	autosomal recessive pseudohypoaldosteronism type 1 Aliases: PHA1B autosomal recessive PHA 1	MRC1	4360	Homo sapiens (human)	DisGeNET
DOID:7319	axonal neuropathy	B3GAT1 MTMR2 PIGB	27087 8898 9488	Homo sapiens (human)	DisGeNET
DOID:1891	optic nerve disease Aliases: disorder of the second nerve optic nerve disorder optic neuropathy	ACO2 AGXT CYP1B1 PRPS1 PTEN	1545 189 50 5631 5728	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0040084	Streptococcus pneumonia	HACD1 MASP2 MBL2 PKD1 PTGS1 PTGS2 STS	10747 412 4153 5310 5742 5743 9200	Homo sapiens (human)	DisGeNET
DOID:14501	Sjogren-Larsson syndrome Aliases: FALDH deficiency SLS Sjogren Larsson syndrome Sjogren-Larsson's syndrome fatty acid alcohol oxidoreductase deficiency	ACSL3 ACSL4 ADH5 ALDH3A1 ALDH3A2 ALDH3B1 ALDH3B2 ALOX12B CERS3 EBP ELOVL4 GBA1 HSD17B6 MRC1 NSDHL STS SULT2B1	10682 128 204219 218 2181 2182 221 222 224 242 2629 412 4360 50814 6785 6820 8630	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060668	anencephaly	ABO B4GAT1 COMT EFNA5	11041 1312 1946 28	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111061	familial hypobetalipoproteinemia 2 Aliases: FHBL2 combined familial hypolipidemia	ANGPTL3	27329	Homo sapiens (human)	Alliance of Genome Resources
DOID:686	liver carcinoma Aliases: Liver and Intrahepatic bile duct carcinoma	ACACA ACADL ACHE ACOT7 ACOX1 ACSL1 ACSM3 ACSS2 AKR1B10 AKR1C1 AKR1C2 AKR1C3 AKR1C4 ALDH2 ALDH7A1 ALPP ANXA5 ANXA7 ATRNL1 B3GAT3 CD44 CEACAM5 CEACAM7 CERS4 CHI3L1 CLEC7A COMT CPT1A CRYL1 CYP17A1 CYP2C9 DCN DLD ECHS1 ELOVL6 ENO1 FASN FBP1 FOLR2 G6PD GALNT14 GCK GGT1 GNPAT GOLPH3 GPC3 HK1 HK2 HMGCS2 HPGDS HSD17B4 HSPG2 ICAM1 IDH1 IDH2 IDUA IGF2R KLRC1 KLRK1 LGALS1 LGALS9 MICA MRC1 MTMR14 OGT PARG PARP1 PCK1 PCK2 PCYT1B PEMT PFKM PGK1 PGM5 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G6 PNPLA3 PRKAA2 PSMD10 PTEN PTGS2 RGN RPE RPIA RTN4R SCD SELP SHMT2 SIRT4 SIRT6 SLC17A5 SLC2A4 SMPD1 SMUG1 SOAT1 SORD SPHK1 SPHK2 SRD5A2 STS SULF1 SULF2 TIGAR UGT1A1 UGT2B7 VCAM1 VCAN	100507436 10400 1048 1087 1109 1116 11332 1312 1374 142 1462 1559 1586 1634 1645 1646 1738 1892 2023 217 2180 2194 2203 22914 22934 23213 23409 2350 23583 250 2539 26033 26229 2645 26503 2678 2719 27306 308 3098 3099 31 310 3158 3295 33 3339 3383 3417 3418 3425 3482 3821 3956 3965 412 43 4360 501 51 5105 5106 51084 51548 5213 5230 5239 5290 5291 5293 5294 5315 54658 5563 55902 55959 56848 57016 57103 5716 5728 5743 6120 6296 6319 6403 64083 64419 64581 6472 65078 6517 6609 6646 6652 6716 7364 7412 79071 79603 79623 80339 8398 8443 8473 8505 8644 8877 9104 9468 960	Homo sapiens (human)	DisGeNET
DOID:2368	gangliosidosis	GLB1 HEXA HEXB OGA PNP	10724 2720 3073 3074 4860	Homo sapiens (human)	DisGeNET
DOID:0050546	congenital adrenal insufficiency Aliases: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE Adrenal insufficiency, congenital, with 46,XY sex reversal P450scc DEFICIENCY	CYP11A1	1583	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050572	cone-rod dystrophy Aliases: cone-rod retinal dystrophy	ABO ACE ACOX1 ADH7 ALDH3A2 ALDH7A1 ALG12 ALOX12 AMACR ARSI CA4 CACNA2D4 CANX CD38 CD44 CD48 CD74 CNTN3 CNTN6 COG4 CTNS CYP19A1 DGKE DHDDS ECHS1 ELOVL4 ELOVL6 FASN FKRP G6PD GAL3ST1 GK GLO1 GMPPB GNPTG H6PD HADH HADHA HADHB HGSNAT HK1 HK2 HKDC1 HSD11B1 HSD17B6 IDH2 IDH3A IDH3B IMPA1 KL LARGE1 LGALS1 LPCAT1 MDH1 NAGLU NGLY1 NYX PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 PNPLA6 POMGNT1 POMT1 POMT2 PRNP PTEN RGMA RPE SDHA SDHB SDHD SFTPD SGSH SIGLEC7 SLC35A1 SMC3 SOAT1 SYNJ1 TMED3	10559 10585 10908 131 138050 1497 1588 1636 1892 2194 224 23423 23600 239 2539 25839 27036 2710 27255 2739 28 29925 29954 3030 3032 3033 3098 3099 3290 340075 3418 3419 3420 3612 3956 4190 4669 501 5067 51 5160 5290 5291 5293 5294 5373 55624 55768 5621 56963 57104 5728 60506 6120 6389 6390 6392 6441 6448 6646 6785 762 79071 79087 79147 79888 79947 80201 821 84572 8526 8630 8867 9126 9215 93589 9365 9514 952 9563 960 962 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:4798	aggressive systemic mastocytosis Aliases: ASM Lymphadenopathic mastocytosis with eosinophilia	CALR CAT CD33 CD38 CEL CYP24A1 ETNK1 FCER2 FH SMPD1	1056 1591 2208 2271 55500 6609 811 847 945 952	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3314	angiomyolipoma	ABO CSPG4 LGALS3 MELTF OGG1 PKD1 PTEN SMUG1	1464 23583 28 3958 4241 4968 5310 5728	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:13636	Fanconi anemia Aliases: Fanconi anaemia Fanconi pancytopenia Fanconi panmyelopathy Fanconi's anaemia Fanconi's anemia	ADH5 ALDH2 ANXA7 CAT CD33 CD38 CD44 CD48 CTNS CYP11A1 CYP2B6 ELOVL6 ENO1 FUT1 GCK HPGDS HPRT1 ICAM1 LPL ME1 MRC1 NCAM1 NEIL1 NEIL3 NTHL1 OCRL PARP1 PFKFB3 PRKAA2 PTEN SOAT1 TIGAR TNF VCAM1	128 142 1497 1555 1583 2023 217 2523 2645 27306 310 3251 3383 4023 4199 4360 4684 4913 4952 5209 55247 5563 57103 5728 6646 7124 7412 79071 79661 847 945 952 960 962	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0111056	platelet-type bleeding disorder 3 Aliases: BDPLT3 PT-VWD platelet type-von Willebrand disease pseudo-von Willebrand disease von Willebrand disease platelet-type	ABO ATP6V0A2 CANX GPI PDIA3	23545 28 2821 2923 821	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4794	obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered	ABO AMACR CD38 CHGA ENO2 HMMR HPGDS MELTF MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SIGLEC7 UGCG	1113 2026 23600 27036 27306 28 3161 4241 4360 5290 5291 5293 5294 5728 5743 7357 952	Homo sapiens (human)	DisGeNET DisGeNET
DOID:13909	red-green color blindness Aliases: Deutan defect Deuteranopia Reduced red-green discrimination	ACE ACO2 ARSA CA4 CACNA2D4 CEL CHAT ELOVL4 FCGR3B G6PD GLDC HS6ST1 IL18R1 MBD4 NYX PARP9 PCYT1A SDHC SLC27A5 STS	1056 10998 1103 1636 2215 2539 2731 410 412 50 5130 60506 6391 6785 762 83666 8809 8930 93589 9394	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0080102	congenital myopathy 4A Aliases: CFTD congenital fiber-type disproportion	B4GAT1 CD38 CHKB FKRP FKTN HACD1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1	10585 11041 1120 2218 4534 55624 64419 79147 9200 9215 952	Homo sapiens (human)	DisGeNET
DOID:8295	scabies Aliases: Infestation by Sarcoptes scabiei Infestation by Sarcoptes scabiei var hominis Sarcoptic itch	CAT	847	Homo sapiens (human)	Alliance of Genome Resources

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