GlyCosmos Portal

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Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2126 - 2150** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0050747	obsolete lymphoplasmacytic lymphoma	ACADVL ACSBG1 ANXA5 CD22 CD38 CD55 CLEC12A COLEC10 FCER2 HAS1 HAS2 HMMR LIPC LPL NAMPT NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 SLC35B2 SMUG1 SOAT1	10135 10584 160364 1604 2208 23205 23583 3036 3037 308 3161 347734 37 3990 4023 4684 5290 5291 5293 5294 5336 6646 933 952	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4078	tricuspid valve stenosis Aliases: Tricuspid stenosis	CHST3 HEXD OGA	10724 284004 9469	Homo sapiens (human)	DisGeNET
DOID:11786	splenic sequestration	SCD	6319	Homo sapiens (human)	DisGeNET
DOID:0060836	isolated microphthalmia 4 Aliases: MCOP4	ALDH1A3	220	Homo sapiens (human)	DisGeNET DisGeNET
DOID:2566	corneal dystrophy	AGK CHST6 CTSA ELOVL4 GCDH GLA GNPTAB LCAT SELP STS	2639 2717 3931 412 4166 5476 55750 6403 6785 79158	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:4552	large cell carcinoma	CD44 CEACAM5 CYP1A1 GLDC ME1 SLC2A3	1048 1543 2731 4199 6515 960	Homo sapiens (human)	DisGeNET
DOID:4624	Ollier disease Aliases: DYSCHONDROPLASIA ENCHONDROMATOSIS, MULTIPLE Enchondromatosis with haemangiomata Kast's syndrome OSTEOCHONDROMATOSIS	CHST3 EXT1 EXT2 HSPG2 IDH1 IDH2	2131 2132 3339 3417 3418 9469	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:628	combined T cell and B cell immunodeficiency Aliases: Congenital Combined Immunodeficiency	FUT1 IL18R1 PGK1 PGM3 PIK3CD PNP	2523 4860 5230 5238 5293 8809	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0070324	systemic Epstein-Barr virus positive T-cell lymphoma of childhood Aliases: EBV-positive T-cell lymphoproliferative disorder of childhood systemic EBV-positive T-cell lymphoma of childhood	ACSBG1 ASAH2 CD14 CD22 CD38 CD44 CEL CNTN2 EBP FCER2 FCGR3B FH ICAM1 IL18R1 IL1R1 KLRB1 KLRD1 LGALS1 MLYCD MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC1 SLC27A5 SLC35B2 SMUG1 SOAT1	1056 10682 10998 2208 2215 2271 23205 23417 23583 3383 347734 3554 3820 3824 3956 4360 4684 5290 5291 5293 5294 5315 56624 6382 6646 6900 83666 8809 929 933 952 960	Homo sapiens (human)	DisGeNET
DOID:0110350	osteogenesis imperfecta type 6 Aliases: OI6 osteogenesis imperfecta type VI	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:146	papilledema	CD38 ENO2 IDS SHMT1	2026 3423 6470 952	Homo sapiens (human)	DisGeNET
DOID:4961	bone marrow disease Aliases: bone marrow disorder	CNTN2 HPRT1 IL18RAP PGP PIK3CD PTGS2 SMUG1 TMTC1	23583 283871 3251 5293 5743 6900 83857 8807	Homo sapiens (human)	DisGeNET
DOID:0111330	combined saposin deficiency Aliases: PSAPD combined SAP deficiency encephalopathy due to prosaposin deficiency	ASAH1 PSAP	427 5660	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:3241	lipid pneumonia Aliases: Exogenous lipoid pneumonia Lipoid pneumonitis	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:0110204	Charcot-Marie-Tooth disease recessive intermediate B Aliases: CMTRIB Charcot-Marie-Tooth neuropathy recessive intermediate B RI-CMTB autosomal recessive intermediate Charcot-Marie-Tooth disease type B	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:3529	congenital myopathy 1A Aliases: central core disease central core myopathy	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:8593	chronic monocytic leukemia	ACHE AKR1B1 CD14 CD33 CD38 CDH13 CEACAM5 CYP3A5 DLD EBP ETNK1 FCER2 FCGR3B FUT4 G6PD HPGDS ICAM1 IDH1 IDH2 IL18R1 KLRK1 LARGE1 LYZ MACROD1 MOGS NCAM1 PAFAH1B1 PARP1 PCYT1A PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PPP1R3A PTEN PTGS2 SIGLEC7 SMC3 SOAT1 VCAM1 XYLT2	1012 1048 10682 142 1577 1738 2208 2215 22914 231 2526 2539 27036 27306 28992 3383 3417 3418 4069 43 4684 5048 5130 5286 5290 5291 5293 5294 5506 55500 5728 5743 64132 6646 7412 7841 8809 9126 9215 929 945 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:4540	dysgraphia	PIK3CA	5290	Homo sapiens (human)	DisGeNET
DOID:7475	diverticulitis	ARSA CHPT1 CLEC7A FOLR2	2350 410 56994 64581	Homo sapiens (human)	DisGeNET
DOID:0090117	thiamine-responsive megaloblastic anemia syndrome Aliases: Rogers syndrome THMD1 TRMA thiamine metabolism dysfunction syndrome 1 thiamine-responsive anaemia syndrome thiamine-responsive anemia syndrome thiamine-responsive megaloblastic anaemia syndrome thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness thiamine-responsive myelodysplasia	TKT	7086	Homo sapiens (human)	DisGeNET
DOID:1626	breast duct papilloma Aliases: duct papilloma of breast papilloma of the breast	PIK3CA	5290	Homo sapiens (human)	DisGeNET
DOID:0050855	renal fibrosis	ACE CYP2J2 LEPR PPARGC1A TLR2 TLR4	10891 1573 1636 3953 7097 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:4468	clear cell adenocarcinoma Aliases: Mesonephroid Clear cell carcinoma Mesonephroma, malignant Water-clear cell adenocarcinoma Water-clear cell carcinoma Wolffian duct neoplasm malignant Mesonephroma mesonephroma	AKR1C1 AMACR ANXA4 FUT4 GLO1 GPC3 GPX3 HAGH LGALS3 LGALS9 NEU3 PTEN SDC1 SLC2A4	10825 1645 23600 2526 2719 2739 2878 3029 307 3958 3965 5728 6382 6517	Homo sapiens (human)	DisGeNET
DOID:6741	bilateral breast cancer Aliases: Bilateral breast carcinoma	ABO CRLS1 CYP19A1 GALNT12 PTEN SDHB	1588 28 54675 5728 6390 79695	Homo sapiens (human)	DisGeNET
DOID:77	gastrointestinal system disease Aliases: GIT disease Gastroenteropathy alimentary system disease digestive system disorder gastrointestinal disease gastrointestinal disorder	ACE ALG8 CAT CD44 CEACAM5 CEACAM6 CEACAM7 COG6 DGAT1 G6PC1 GP2 GUSB IGF2 LCT LPIN2 LYZ MICA MUTYH NCAM1 OGA PARP1 PTGS1 PTGS2 REG1B SI STS VCAM1	100507436 1048 10724 1087 142 1636 2538 2813 2990 3481 3938 4069 412 4595 4680 4684 5742 5743 57511 5968 6476 7412 79053 847 8694 960 9663	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources

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