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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 **3901 - 3925** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110156	Charcot-Marie-Tooth disease type 2B1 Aliases: CMT2B1 Charcot-Marie-Tooth disease neuronal type 2B1 Charcot-Marie-Tooth neuropathy type 2B1 autosomal recessive Charcot-Marie-Tooth disease type 2B1 autosomal recessive axonal CMT4C1 autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1	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:0060282	persistent hyperplastic primary vitreous	CRPPA	729920	Homo sapiens (human)	DisGeNET
DOID:11342	arcus senilis Aliases: Arcus of cornea corneal arcus	EPHX2 LCAT	2053 3931	Homo sapiens (human)	DisGeNET
DOID:9808	Goodpasture syndrome Aliases: anti-GBM disease anti-glomerular basement membrane disease	ABO ACE B3GAT1 CEL CHI3L1 CYP19A1 CYP21A2 FCGR3B GBA3 GLA INPP4B KLRB1 MICA NAAA NT5E PARP9 PTEN SELP SLC27A5 SMUG1 TPI1 VCAM1	100507436 1056 10998 1116 1588 1589 1636 2215 23583 27087 27163 2717 28 3820 4907 5728 57733 6403 7167 7412 83666 8821	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:8456	choline deficiency disease Aliases: choline deficiency	MLYCD PEMT	10400 23417	Homo sapiens (human)	DisGeNET
DOID:1788	peritoneal mesothelioma Aliases: Advanced malignant Mesothelioma of Peritoneum advanced malignant peritoneal mesothelioma malignant mesothelioma of peritoneum	CEACAM5 CEACAM7 FUT4 HAS1 PIK3CA PTEN PTGS2 SDC1 SMUG1	1048 1087 23583 2526 3036 5290 5728 5743 6382	Homo sapiens (human)	DisGeNET
DOID:5327	retinal detachment	ALG12 B3GALNT2 B4GAT1 CHI3L1 CHST14 COL9A2 CRPPA CYP1B1 DAG1 FKRP FKTN GMPPB LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PTEN RPE RXYLT1 TNF XYLT2	10329 10585 11041 1116 113189 1298 148789 1545 1605 2218 29925 29954 55624 5728 6120 64132 7124 729920 79087 79147 84197 84892 9215	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:2024	placental choriocarcinoma Aliases: Choriocarcinoma of the Placenta	CYP19A1 STS	1588 412	Homo sapiens (human)	DisGeNET
DOID:820	myocarditis Aliases: Myocardial inflammation	ACE ARSB CA4 CYP11B1 CYP11B2 DCN FCN2 FKTN FUT4 GPX1 ICAM1 IDS ISYNA1 KLRB1 KLRK1 LGALS3 LGALS9 NCAM1 PTGS2 SLC17A5 SLC2A10 SMUG1	1584 1585 1634 1636 2218 2220 22914 23583 2526 26503 2876 3383 3423 3820 3958 3965 411 4684 51477 5743 762 81031	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2703	synovitis	ACLY ACSS2 CD44 CYP19A1 DHCR24 EFNA5 FOLR2 GPI HSD11B1 ICAM1 LGALS3 LPIN2 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PRKAA2 PRNP PTGS1 SCD SDC4 SMUG1 SOAT1 SPHK2 VCAM1	1588 1718 1946 2350 23583 23659 2821 3290 3383 3958 47 5290 5291 5293 5294 5563 55902 5621 56848 5742 6319 6385 6646 7412 960 9663	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:5709	mixed-type liposarcoma	EBP PIK3CA PIK3CB PIK3CD PIK3CG	10682 5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:11049	meconium aspiration syndrome Aliases: Neonatal aspiration of meconium meconium aspiration	AMY1A AMY1B AMY1C CD14 PTGS1 PTGS2	276 277 278 5742 5743 929	Homo sapiens (human)	DisGeNET
DOID:3388	periodontal disease Aliases: disease of supporting structures of teeth periodontium disorder	ACE ALOX5 AMY1A AMY1B AMY1C CAT CD14 FCGR3B GPNMB IL18R1 LGALS9 LYZ MBL2 PNP PTGS2 RECK SELL SLC2A4 SMPD1 VCAM1	10457 1636 2215 240 276 277 278 3965 4069 4153 4860 5743 6402 6517 6609 7412 8434 847 8809 929	Homo sapiens (human)	DisGeNET
DOID:0110813	hereditary spastic paraplegia 62 Aliases: SPG62 autosomal recessive spastic paraplegia 62 autosomal recessive spastic paraplegia type 62	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)	DisGeNET
DOID:0110225	Brugada syndrome 8 Aliases: BRGDA8	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050459	hyperphosphatemia	ADH1B CYP11B2 CYP24A1 CYP27B1 GALNT3 KL PGAP2 PIK3C2A SHMT1 SMPD3	125 1585 1591 1594 2591 27315 5286 55512 6470 9365	Homo sapiens (human)	DisGeNET
DOID:14456	Brucella melitensis brucellosis	APRT CD14 MICA OXSM	100507436 353 54995 929	Homo sapiens (human)	DisGeNET
DOID:0060063	sideroblastic anemia 1 Aliases: X-linked sideroblastic anaemia X-linked sideroblastic anemia XLSA sideroblastic anaemia 1	SUCLA2	8803	Homo sapiens (human)	DisGeNET
DOID:5418	schizoaffective disorder	ACADS ACHE ACOT7 ACSL6 ADH1B AGA ALDH2 ALDH5A1 ALG9 ARSA ARSB B3GAT1 CALR CHI3L1 CHPT1 COMT CYP27B1 CYP2B6 DHDDS EPM2A G6PD GAD1 GAD2 GLUL HPGDS LGALS3 ME2 MGAT1 NPL PAFAH1B1 PIK3C2A PLA2G1B PLA2G4A PLCB4 PPT1 PRNP RPN2 RTN4R SLC27A5 SMUG1 SPTLC1 ST3GAL1 UXS1 VCAM1	10558 10998 1116 11332 125 1312 1555 1594 175 217 23305 23583 2539 2571 2572 27087 27306 2752 35 3958 410 411 4200 4245 43 5048 5286 5319 5321 5332 5538 5621 56994 6185 6482 65078 7412 7915 7957 79796 79947 80146 80896 811	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0060380	orofaciodigital syndrome X Aliases: OFD10 orofaciodigital syndrome with fibular aplasia	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:3493	signet ring cell adenocarcinoma Aliases: Signet ring carcinoma Signet ring cell carcinoma	GALNT14 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PTEN TFF1	4684 5290 5291 5293 5294 5319 5320 5728 7031 79623 8398	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:5151	plexiform neurofibroma	PTEN SMUG1	23583 5728	Homo sapiens (human)	DisGeNET
DOID:0110510	autosomal recessive nonsyndromic deafness 55 Aliases: DFNB55 autosomal recessive deafness 55	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:0080332	bicuspid aortic valve disease Aliases: Familial bicuspid aortic valve	ACAN ACE ARSD ATP6V0A2 B3GALT6 B3GAT3 CD44 CHST3 ENPP1 GAPDH ICAM1 KL NT5E PLA2G7 PLPP3 STS	126792 1636 176 23545 2597 26229 3383 412 414 4907 5167 7941 8613 9365 9469 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:11836	clubfoot Aliases: Congenital equinovarus Equinovarus deformity of foot congenital clubfoot congenital talipes equinovarus	ACSL4 AGA AKR1C1 ALG12 ALG13 ALG14 ALG2 ALG3 ALG8 ARSI ATP6AP2 ATP6V0A2 ATP6V1A B3GALT6 B3GAT3 B4GALT7 CHAT CHST14 CHST3 COG1 COG4 COG8 COMT CPT2 CYP1A1 DHCR24 DPAGT1 DPM3 DSE EBP EOGT EXT1 EXT2 FASN GFPT1 GMPPB GNPTAB GPC3 GUSB HACD1 HADHA HADHB HS6ST1 HSD17B4 HSPG2 IL1RAPL1 INPP5E L1CAM MGAT2 MTMR2 PI4KA PLOD3 PMM2 POMT1 PTEN RFT1 SC5D SLC26A2 SLC35A2 SMC3 TGDS XYLT1 XYLT2	10159 10195 10585 10682 1103 11141 11285 113189 126792 1312 1376 1543 1645 1718 175 1798 1836 199857 2131 2132 2182 2194 23483 23545 25839 26229 2673 2719 285203 2990 29925 29940 3030 3032 3295 3339 340075 3897 4247 523 5297 5373 54344 56623 5728 6309 64131 64132 7355 79053 79087 79158 79868 84342 85365 8898 8985 9126 91869 9200 9382 9394 9469	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources

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