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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 **5701 - 5725** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:5830	cervical endometrioid adenocarcinoma Aliases: endometrioid carcinoma of the Cervix Uteri	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:0110474	autosomal recessive nonsyndromic deafness 18B Aliases: DFNB18B autosomal recessive deafness 18B	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 DisGeNET Alliance of Genome Resources
DOID:3978	extrinsic cardiomyopathy	PFKFB3	5209	Homo sapiens (human)	DisGeNET
DOID:7732	childhood malignant schwannoma Aliases: pediatric MPNST	CD44 CHSY1 IL1R1 SMUG1	22856 23583 3554 960	Homo sapiens (human)	DisGeNET
DOID:3347	osteosarcoma Aliases: Osteogenic sarcoma Skeletal sarcoma bone tissue neoplasm osteoid sarcoma	ACLY ACYP2 AGPAT2 AKR1A1 AKR1C1 ALDH1B1 ALDOA ALOX5 ALPI ALPL ALPP ANXA5 APRT ATRNL1 BPHL CALR CANX CAT CBR3 CD109 CD14 CD248 CD38 CD44 CD74 CEACAM6 CHI3L1 CHPT1 CHST2 CLEC5A CNTN2 COL9A2 COLGALT1 COLGALT2 CSPG4 CYP19A1 CYP27B1 CYP2B6 CYP3A4 DCN DDOST DGKZ DHDDS DPEP1 EFNA1 EXT1 EXT2 FADS1 FASN FBP1 FCN2 FDPS FOLR1 FOLR2 FUT3 GAPDH GAS1 GFRA1 GLDC GLUL GPI GPNMB HACD1 HAS2 HAS3 HK2 HPGDS HPSE HSD11B1 HSD11B2 ICAM1 IDH1 IDH2 IGF2R IL18R1 IL1R1 INPP4B KLRK1 L1CAM LDHA LGALS1 LGALS3 LPL LSS LYPD5 MCAT MELTF MGLL MICA MMUT MTAP NANS NEU1 OLR1 PAFAH1B1 PARG PARP1 PCK2 PCYT1A PFKFB2 PFKFB3 PGAM1 PGAP2 PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G4A PLAAT3 PLAUR PLCG1 PLCG2 PLD1 PNPLA2 PRKAA2 PRNP PSMD10 PTEN PTGES3 PTGS2 RECK RENBP SDC1 SDC2 SDC4 SDHA SDHC SGMS2 SIRT6 SLC2A4 SMC3 SMPD2 SMUG1 SOAT1 SPHK1 SPHK2 STS SULT1E1 TNKS2 TNKS TP53 TUSC3 ULBP1 ULBP2 VCAM1 VCAN VNN2 VTCN1	100507436 10327 10457 10555 10728 10855 11145 1116 11343 1298 135228 142 1462 1464 1555 1576 1588 1594 1634 1645 1650 166929 1800 1942 2131 2132 219 2194 2203 2220 2224 226 22914 23127 2348 2350 23583 23601 240 248 249 250 2525 2597 26033 2619 2674 27306 2731 27315 27349 2752 2821 284348 3037 3038 308 3099 3290 3291 3383 3417 3418 3482 353 3554 3897 3939 3956 3958 3992 4023 4047 412 4241 4507 4594 4680 47 4758 4973 5048 5106 5130 51548 5208 5209 5223 5281 5290 5291 5293 5294 5310 5315 5321 5329 5335 5336 5337 54187 5563 5621 56848 56994 57104 57124 5716 5728 5743 5973 6382 6383 6385 6389 6391 6517 6610 6646 670 6783 6900 7157 7412 79679 79709 7991 79947 80328 80329 80351 811 821 8434 847 8505 8525 8658 874 8809 8821 8875 8877 9126 9200 929 9435 952 960 972 98	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:8805	intermediate coronary syndrome Aliases: Angina at rest Anginal chest pain at rest Impending infarction Preinfarction angina Unstable angina Worsening angina	ACE AKT1 ARSA CD14 CHGA CHI3L1 CYP2C19 ICAM1 IL18R1 LGALS3 MBL2 PARP1 PLA2G1B PLB1 PTEN PTGS2 SELP SULT1E1	1113 1116 142 151056 1557 1636 207 3383 3958 410 4153 5319 5728 5743 6403 6783 8809 929	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:5525	anal squamous cell carcinoma Aliases: Epidermoid anal carcinoma	CEACAM5 CEACAM7 LIPA PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1	1048 1087 23583 3988 5290 5291 5293 5294 5728	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:4183	pseudopseudohypoparathyroidism Aliases: Normocalcemic pseudohypoparathyroidism	APRT ASAH1 GPC1	2817 353 427	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:2351	iron metabolism disease Aliases: disorder of iron metabolism iron disorder	ACACA ACE ACO1 AKR1D1 ALPP ANXA5 ARSA ATRNL1 CALR CAT CCDC115 CYP27B1 G6PD GALNS GLUL GNPAT GPX1 HJV IL1R1 NDUFAB1 PNPLA3 PRNP SLC17A5 SLC39A8 SMPD1 VCAM1	148738 1594 1636 250 2539 2588 26033 26503 2752 2876 308 31 3554 410 4706 48 5621 64116 6609 6718 7412 80339 811 84317 8443 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0050542	Charcot-Marie-Tooth disease type X	PRPS1	5631	Homo sapiens (human)	DisGeNET
DOID:10300	Raynaud disease Aliases: Raynaud's disease Raynaud's syndrome	ACE AGXT ANXA5 CAT CNTN3 GAD1 SDHC	1636 189 2571 308 5067 6391 847	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110226	Brugada syndrome 9 Aliases: BRGDA9	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110339	osteogenesis imperfecta type 3 Aliases: OI3 osteogenesis imperfecta type III progressively deforming osteogenesis imperfecta with normal sclera	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110066	amelogenesis imperfecta type 1G Aliases: AI1G AIGFS ERS amelogenesis imperfecta and gingival fibromatosis syndrome amelogenesis imperfecta hypoplastic with nephrocalcinosis amelogenesis imperfecta type IG enamel-renal syndrome enamel-renal-gingival syndrome	AKR1C1 AKR1C2 CACNA2D1 MMP25 TMEM165	1645 1646 55858 64386 781	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:4791	supratentorial primitive neuroectodermal tumor Aliases: Supratentorial PNET	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:264	hemangiopericytoma Aliases: Haemangiopericytic meningioma hemangiopericytoma, malignant malignant hemangiopericytoma	PTEN	5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110739	neurodegeneration with brain iron accumulation 5 Aliases: BPAN Beta-Propeller Protein-Associated Neurodegeneration NBIA5 SENDA Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood	AKR1B10 ENO2 PLA2G1B PLA2G6 PLB1	151056 2026 5319 57016 8398	Homo sapiens (human)	DisGeNET DisGeNET
DOID:2536	chronic inflammatory demyelinating polyneuritis	CNTN1 CNTN2 GBE1 HPRT1 MAG PTGS2	1272 2632 3251 4099 5743 6900	Homo sapiens (human)	DisGeNET
DOID:0111077	pyruvate kinase deficiency of red cells Aliases: PK deficiency hemolytic anemia due to red cell pyruvate kinase deficiency pyruvate kinase deficiency of erythrocyte	G6PD HK1 PKLR	2539 3098 5313	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:11527	laryngostenosis Aliases: Stenosis of larynx	FIG4 GLT8D1 SLC26A2	1836 55830 9896	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060301	type I complement component 8 deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	Homo sapiens (human)	DisGeNET
DOID:0111078	tibial muscular dystrophy Aliases: Finnish tibial muscular dystrophy TMD Tardive tibial muscular dystrophy Udd myopathy Udd type distal myopathy distal titinopathy	COMT GNE PIK3C2A	10020 1312 5286	Homo sapiens (human)	DisGeNET DisGeNET
DOID:10230	aortic atherosclerosis Aliases: Atherosclerosis of aorta	ACE CHGA LCAT LIPG LPL PTGS2	1113 1636 3931 4023 5743 9388	Homo sapiens (human)	DisGeNET
DOID:8864	acute monocytic leukemia Aliases: acute Monoblastic Leukemia and acute Monocytic Leukemia acute monocytic leukaemia acute monocytic leukaemia without mention of remission acute monocytic leukemia without mention of remission acute monocytic leukemia, FAB M5 acute monocytic leukemia, morphology	ABO ACE ACHE ACOT7 ASAH1 BST1 CALR CD33 CD38 CD44 CD74 CEL CLEC12A CYP2C19 CYP3A4 CYP7A1 DLD EBP FCGR3B FUT4 GLUL HMMR HPGDS ICAM1 IDH1 IDH2 IL1RAP INPP4B INPP5D KLRK1 LGALS3 MACROD1 MBD4 NCAM1 NT5E PAFAH1B1 PARP9 PIGN PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G4A PLCG1 PRKAA2 PTGES3 SIRT6 SLC27A5 SOAT1 TIGAR VCAM1	1056 10682 10728 10998 11332 1557 1576 1581 160364 1636 1738 2215 22914 23556 2526 27306 2752 28 28992 3161 3383 3417 3418 3556 3635 3958 427 43 4684 4907 5048 51548 5290 5291 5293 5294 5310 5321 5335 5563 57103 6646 683 7412 811 83666 8821 8930 945 952 960 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:13725	beriberi	AGXT CHAT SLC35F3 TKT	1103 148641 189 7086	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET

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