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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:775	intraocular lymphoma Aliases: primary intraocular lymphoma	CAT	847	Homo sapiens (human)	DisGeNET
DOID:0050709	early infantile epileptic encephalopathy Aliases: Early Infantile Epileptic Encephalopathy with Burst-Suppression	ALDH7A1 AMT CYP2C19 GAPDH GPC3 HK2 IDH3A IDH3B IDH3G PIGA PIGP PIGQ PIK3CA PIK3CB PIK3CD PIK3CG PLCB1 PRKAA2 SMUG1 ST3GAL3 SYNJ1	1557 23236 23583 2597 2719 275 3099 3419 3420 3421 501 51227 5277 5290 5291 5293 5294 5563 6487 8867 9091	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0112251	Ghosal hematodiaphyseal syndrome Aliases: Ghosal hematodiaphyseal dysplasia Ghosal syndrome diaphyseal dysplasia-anemia syndrome	TBXAS1	6916	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080132	Sengers syndrome Aliases: mitochondrial DNA depletion syndrome 10 mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)	AGK CS	1431 55750	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110583	autosomal dominant nonsyndromic deafness 59 Aliases: DFNA59 autosomal dominant deafness 59	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:1138	spinal meningioma Aliases: Spinal Cord meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0090064	familial cold autoinflammatory syndrome 3	PLCG2	5336	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:12894	Sjogren's syndrome Aliases: Sicca syndrome Sjogren syndrome xerodermosteosis	ACE ALPP AMY1A AMY1B AMY1C ATRNL1 BST2 CALR CD14 CD44 CHIA CHST3 CNTN2 CYP19A1 CYP1A1 DGKQ DLAT FUCA1 GLO1 HPSE ICAM1 IL18R1 LYZ MBL2 PC PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTEN SELE SELP SEMA7A SOAT1 SPHK1 STS TNF VCAM1 VTCN1	10855 1543 1588 1609 1636 1737 250 2517 26033 27159 2739 276 277 278 3383 4069 412 4153 5091 5290 5291 5293 5294 5563 5728 6401 6403 6646 684 6900 7124 7412 79679 811 8482 8809 8877 929 9469 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:12577	urethral obstruction Aliases: Obstruction of urethra	CYP19A1 HPSE2 SIRT2	1588 22933 60495	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:520	aortic disease Aliases: aortic disorder disorder of the aorta	CAT PTDSS1 SULT1E1 VCAM1	6783 7412 847 9791	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110584	autosomal dominant nonsyndromic deafness 6 Aliases: DFNA14 DFNA38 DFNA6 autosomal dominant deafness 14 autosomal dominant deafness 38 autosomal dominant deafness 6	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:8233	inflammatory liposarcoma	ALPP ATRNL1 CPM FASN GGT1 IDH1 IDH2 NANS TNKS	1368 2194 250 26033 2678 3417 3418 54187 8658	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110351	osteogenesis imperfecta type 11 Aliases: OI11 osteogenesis imperfecta type XI	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)	DisGeNET
DOID:0060162	dentatorubral-pallidoluysian atrophy Aliases: DRPLA Haw River Syndrome Naito-Oyanagi disease	ARSA ASAH1 CERS1 EPM2A GAPDH GBA1 NAGLU NEU1 PFKL PRNP TMED9	10715 2597 2629 410 427 4669 4758 5211 54732 5621 7957	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:4157	secondary syphilis Aliases: secondary syphilis of viscera or bone	CD14 EXTL3	2137 929	Homo sapiens (human)	DisGeNET
DOID:0060060	non-Hodgkin lymphoma	ACAA1 ACACA ACE ACSBG1 AKR1A1 AKR1C1 AKR1C3 ALPP ANXA5 ANXA7 APRT ATRNL1 CAT CD14 CD22 CD33 CD38 CD44 CD55 CDH13 CFC1 COMT CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 EPHX2 FCGR3B FCN2 FH G6PD GBA1 GPX1 HPGDS ICAM1 IDH1 IDH2 IGF2R KLRK1 LGALS1 LGALS3 MASP2 MCAT MTAP NCAM1 NTHL1 OGG1 PAFAH1B1 PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SELE SELL SHMT1 SHMT2 SLC35B2 SMUG1 SOAT1 TMEM260 VCAM1 VTCN1	1012 10327 10747 1312 142 1543 1545 1555 1559 1571 1586 1591 1594 1604 1636 1645 2053 2215 2220 2271 22914 23205 23583 250 2539 26033 2629 27306 27349 2876 30 308 31 310 3383 3417 3418 347734 3482 353 3956 3958 4507 4684 4913 4968 5048 5091 5290 5291 5293 5294 54916 55997 5728 5743 6401 6402 6470 6472 6646 7412 79679 847 8644 929 933 945 952 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080265	nephrotic syndrome type 14	SGPL1	8879	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:13088	periventricular leukomalacia	ACE ECHS1 EOGT PC PLA2G6 PMM2 SFTPD TNF TPI1	1636 1892 285203 5091 5373 6441 7124 7167 8398	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060551	poikiloderma with neutropenia Aliases: poikiloderma with neutropenia, Clericuzio type	ENOSF1 GPX1 GPX3 MAG PLCB1	23236 2876 2878 4099 55556	Homo sapiens (human)	DisGeNET
DOID:6812	childhood pilocytic astrocytoma Aliases: pediatric Pilocytic astrocytoma	IDH1 IDH2 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	142 3417 3418 5290 5291 5293 5294 5728	Homo sapiens (human)	DisGeNET
DOID:4428	dyslexia	ARSD COMT CYP19A1 DGKI DLD EPM2A GNPTAB GNPTG NAGPA NCAN PARP1 PLA2G6 PTGES3	10728 1312 142 1463 1588 1738 414 51172 79158 7957 8398 84572 9162	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110212	Charcot-Marie-Tooth disease X-linked recessive 4 Aliases: CMT4X CMTX4 Charcot-Marie-Tooth disease with deafness and mental retardation Cowchock syndrome NADMR NAMSD X-linked Charcot-Marie-Tooth disease type 4 axonal motor sensory neuropathy with deafness and mental retardation	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
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)	DisGeNET
DOID:12185	otosclerosis	ACE SLC26A2	1636 1836	Homo sapiens (human)	DisGeNET
DOID:0110191	Charcot-Marie-Tooth disease type 4B1 Aliases: CMT4B1 Charcot-Marie-Tooth neuropathy type 4B1 autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR1 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 8776 8898 9517 960 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources

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