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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 **3526 - 3550** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0060363	glycerol kinase deficiency	GK2 GK	2710 2712	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:10582	Refsum disease Aliases: HMSN type IV HSMN IV Heredopathia atactica polyneuritiformis Refsum's disease adult Refsum disease classic Refsum disease phytanic acid oxidase deficiency	CAT GPD1 HSD17B4 SCP2	2819 3295 6342 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:1064	cystinosis Aliases: cystine storage disease	AGPAT2 APRT CTNS CYP51A1 EHHADH GPX3 LGALS3 NAGLU OCRL PRKAA2 SLC2A2 SLC5A1 VNN1 VNN2	10555 1497 1595 1962 2878 353 3958 4669 4952 5563 6514 6523 8875 8876	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:3227	tracheal stenosis Aliases: Stenosis of trachea	EBP IDUA	10682 3425	Homo sapiens (human)	DisGeNET
DOID:4737	somatoform disorder Aliases: physiological malfunction arising from mental factor psychophysiologic disorder psychosomatic disorder	ACE COMT	1312 1636	Homo sapiens (human)	DisGeNET
DOID:11427	endosalpingiosis	OVGP1	5016	Homo sapiens (human)	DisGeNET
DOID:12732	intermediate uveitis Aliases: chronic cyclitis peripheral uveoretinitis	PTEN TNF	5728 7124	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060779	congenital malabsorptive diarrhea 4 Aliases: congenital malabsorptive diarrhea due to paucity of enteroendocrine cells congenital malabsorptive diarrhoea 4 congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells enteric anendocrinosis	DGAT1	8694	Homo sapiens (human)	DisGeNET
DOID:3112	papillary adenocarcinoma Aliases: Infiltrating and papillary adenocarcinoma infiltrating papillary adenocarcinoma	ACE ACHE AGK AGRN AKR1C2 ALDH1A3 ALOX12B ALOX5 AMACR ANXA4 ANXA5 APRT B4GALNT3 CD38 CD44 CD74 CEMIP CERS1 CERS2 CHI3L1 CPT1C CYP19A1 CYP1A1 CYP24A1 CYP27B1 CYP2R1 DCN DHCR24 EBP ELOVL2 ENPP2 FASN FCER2 FCGR3B FH FUCA1 FUT4 G6PD GAPDH GAS1 GGT1 GLA GPC3 GPI GPNMB GPX3 GUSB HK2 HPGDS HPRT1 HPSE ICAM1 IDH1 IL1R1 INPP4B INPPL1 KLB L1CAM LDHA LDHB LGALS1 LGALS3 LMAN2L MCAT MINPP1 MMUT MRC1 NCAM1 NT5E OGG1 PARG PARP1 PC PCYT1A PDHB PGK1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G6 PLD2 PRKAA2 PTEN PTGDS PTGES3 PTGES PTGIS PTGS2 RECK RPIA SCD SDC4 SDHB SELE SELL SHMT1 SIRT6 SLC2A3 SMUG1 SPHK1 SPHK2 TKTL1 TM7SF2 TPI1 TYMP UGCG	10457 10682 10715 10728 10855 1116 120227 126129 142 152831 1543 1588 1591 1594 1634 1636 1646 1718 1890 2194 220 2208 2215 2271 22934 23583 23600 240 242 2517 2526 2539 2597 2619 2678 2717 2719 27306 27349 2821 283358 2878 2990 29956 307 308 3099 3251 3383 3417 353 3554 3636 375790 3897 3939 3945 3956 3958 43 4360 4594 4684 4907 4968 5091 5130 51548 5162 5168 5230 5236 5290 5291 5293 5294 5315 5319 5320 5338 54898 5563 55750 56848 57214 5728 5730 5740 5743 6319 6385 6390 6401 6402 6470 6515 7108 7167 7357 81562 8277 8398 8434 8505 8821 8877 952 9536 9562 960 972	Homo sapiens (human)	DisGeNET DisGeNET
DOID:5603	T-cell acute lymphoblastic leukemia Aliases: Precursor T Lymphoblastic Leukemia T Acute Lymphoblastic Leukemia T-cell acute lymphocytic leukaemia T-cell leukemia T-cell lymphoblastic leukemia/lymphoma acute T cell leukemia precursor T-lymphoblastic lymphoma/leukemia	ABO ACE AKR1C1 AKR1C3 APRT ARSA CALR CAT CD14 CD22 CD33 CD38 CD44 CD55 CERS6 CHKA CNTN2 CRYL1 CYP1A1 CYP2B6 CYP3A4 CYP3A5 ENO2 FCER2 FCGR3B FUT1 FUT4 HACD1 HPGDS HPRT1 HPSE2 HSD17B1 ICAM1 IDH1 IDH2 IDUA IL18R1 INPP5D LCT LGALS1 LGALS3 LGALS9 MRC1 MTAP NAAA NAMPT NCAM1 OGG1 PARP1 PIGL PIK3CA PIK3CB PIK3CD PIK3CG PLA2R1 PLCG1 POGLUT1 PRKAA2 PSMD10 PTEN PTGES RENBP SACM1L SCD5 SELE SELL SIGLEC7 SMUG1 SOAT1 ST6GAL1 STS TALDO1 TIGAR TMED5 TMED9 UNG VCAM1 VCAN XYLT2	10135 1119 142 1462 1543 1555 1576 1577 1604 1636 1645 2026 2208 2215 22908 22925 23583 2523 2526 253782 27036 27163 27306 28 3251 3292 3383 3417 3418 3425 353 3635 3938 3956 3958 3965 410 412 4360 4507 4684 4968 50999 51084 5290 5291 5293 5294 5335 54732 5563 56983 57103 5716 5728 5973 60495 6401 6402 64132 6480 6646 6888 6900 7374 7412 79966 811 847 8644 8809 9200 929 933 945 9487 952 9536 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:4376	milk allergy Aliases: milk allergic reaction	LALBA	3906	Homo sapiens (human)	DisGeNET
DOID:1019	osteomyelitis	ACOT7 ACYP2 CHI3L1 DHCR24 EBP IL18R1 LCT LPIN2 MBD4 NANS PGM3 PTGS2 SMUG1 SPTLC2	10682 1116 11332 1718 23583 3938 5238 54187 5743 8809 8930 9517 9663 98	Homo sapiens (human)	DisGeNET DisGeNET
DOID:530	eyelid disease	ALOX5 CEACAM5 CYP27A1 EPHX2 G6PC1 GPC1 PTGS1 SLC37A4	1048 1593 2053 240 2538 2542 2817 5742	Homo sapiens (human)	DisGeNET
DOID:0060215	Balo concentric sclerosis Aliases: Balo disease Balo's concentric sclerosis Tumefactive multiple sclerosis	ACE ACHE ALDH7A1 ARSB CD38 CD44 CH25H CHAT CHKB COLGALT1 COMT CPT1B CYP1A2 CYP2B6 CYP2C9 CYP3A4 EBP ECHS1 EPM2A GAD2 GALNT14 GLB1 GPC5 HS6ST3 ICAM1 IDH2 IDS IDUA MBL2 MDGA2 MGAT1 MGLL NCAM1 NDST3 NYX PARP1 PIK3CD PLB1 PRNP PTEN RTN4R SGSH SLC17A5 SUMF1	10682 1103 1120 11343 1312 1375 142 151056 1544 1555 1559 1576 161357 1636 1892 2262 2572 26503 266722 2720 285362 3383 3418 3423 3425 411 4153 4245 43 4684 501 5293 5621 5728 60506 6448 65078 7957 79623 79709 9023 9348 952 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:2123	tularemia	ALOX5	240	Homo sapiens (human)	DisGeNET
DOID:9063	Ritter's disease Aliases: Dermatitis exfoliativa neonatorum Pemphigus neonatorum Ritter disease Scalded skin syndrome Staphylococcal scalded skin syndrome Toxic epidermal necrolysis, subcorneal type	EXT1	2131	Homo sapiens (human)	DisGeNET
DOID:0060900	Parkinson's disease 14 Aliases: Dystonia-Parkinsonism Adult-Onset autosomal recessive Parkinson disease 14 autosomal recessive Parkinson's disease 14	PLA2G6	8398	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080190	malignant epithelioid hemangioendothelioma	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:0110550	autosomal dominant nonsyndromic deafness 20 Aliases: DFNA20 DFNA26 autosomal dominant deafness 20	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:0110345	osteogenesis imperfecta type 16 Aliases: OI16 chromosome 11p11.2 deletion syndrome 91.3-KB osteogenesis imperfecta type XVI	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)	DisGeNET
DOID:0112222	developmental and epileptic encephalopathy 88 Aliases: DEE88 early infantile epileptic encephalopathy 88	MDH1	4190	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111425	restrictive cardiomyopathy 1 Aliases: RCM1 familial restrictive cardiomyopathy 1	ACE	1636	Homo sapiens (human)	DisGeNET
DOID:0110476	autosomal recessive nonsyndromic deafness 1B Aliases: DFNB1B autosomal recessive deafness 1B	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:0080525	differentiated thyroid gland carcinoma	CD44 CNTN5 CNTN6 CYP24A1 CYP27B1 CYP2R1 GGT1 GPI GPX3 L1CAM LGALS1 LGALS3 NCAM1 NEIL3 PARP1 PIGU PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGDS PTGS2 RENBP SDHD SMUG1 TKTL1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A8	120227 128869 142 1591 1594 23583 2678 27255 2821 2878 3897 3956 3958 4684 5290 5291 5293 5294 53942 54575 54576 54577 54578 54657 54658 54659 55247 5728 5730 5743 5973 6392 8277 960	Homo sapiens (human)	DisGeNET
DOID:2340	craniosynostosis Aliases: Premature closure of cranial sutures	ACOX1 ACSL3 AGA ALG13 ALG9 ALOX5 ALPL ALPP ANXA7 ARSA ATRNL1 B3GAT3 B3GLCT CHI3L1 CHST14 CHST3 CLC CNTN1 COLEC10 COLEC11 COMT CPO CYP11B1 CYP24A1 CYP2B6 DGCR2 DSE ENPP1 EXT2 FKTN FREM1 FUCA1 GAD2 GNPTAB GPC1 GPC3 GPC6 HPGDS HSD11B1 HSD17B4 IDS IL1RL1 IL1RL2 L1CAM LYZ MASP1 MGAT2 MPDU1 MRC1 NAAA NANS NGLY1 NT5E PDHX PGAP2 PGAP3 PIGL PIGO PIGT PIGV PIGW PIGY PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PNPLA6 PTEN PTGDS PTGS2 SDC1 SFTPA1 SFTPA2 SFTPD SLC2A10 SLC35A2 SLC39A8 SMC3 SRD5A3 SULT1E1 VCAM1	10082 10584 10908 1116 113189 1178 1272 130749 1312 145173 1555 158326 1584 1591 175 2132 2181 2218 240 249 250 2517 2572 26033 26229 27163 2719 27306 27315 2817 284098 29940 310 3290 3295 3423 3897 4069 410 4247 4360 4907 51 51604 5167 5290 5291 5293 5294 5320 54187 55650 55768 5648 5728 5730 5743 6382 64116 6441 653509 6783 729238 7355 7412 78989 79158 79644 79796 79868 8050 81031 8399 84720 84992 8808 9126 9173 93210 9469 9487 9526 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET

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