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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 **2376 - 2400** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0111411	exudative vitreoretinopathy 4 Aliases: EVR4	LRP5	4041	Homo sapiens (human)	Alliance of Genome Resources
DOID:2237	hepatitis Aliases: acute and subacute liver necrosis acute hepatitis acute/subac. necrosis of liver animal hepatitis chronic hepatitis chronic persistent hepatitis	ABO ACACA ACADM ACE ACOT7 AKR1D1 ALDH2 ALDOB ALPP APRT ARSH ATRNL1 B4GALT1 BDH1 BST2 CALR CAT CD14 CD1D CD44 CD74 CEL CFC1 CHI3L1 CHPT1 CHST3 CLEC7A COLGALT2 CPT1A CPT1B CPT2 CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP1A2 CYP1B1 CYP21A2 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP7A1 CYP7B1 DLAT ECHS1 ENPP2 EXT1 FADS2 FBP1 FCGR3B FUT8 G6PD GGT1 GPC3 GPI GPNMB GPX1 GUSB HADH HAS1 HAS3 HKDC1 HPGDS HSD11B2 HSD17B3 HSD17B6 HSD3B2 ICAM1 IL1R1 IPMK KLRB1 KLRC1 KLRK1 LGALS1 LGALS3 LGALS9 LIPC LTC4S MBL2 MBOAT7 MGLL MICA MPPE1 NAMPT NCAM1 NCAN NT5E OGG1 PARP1 PARP2 PARP9 PC PDIA3 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLD4 PMM1 PNPLA3 PRKAA2 PSMD10 PTEN PTGES PTGS1 PTGS2 RGN SDC1 SELP SGMS1 SIGLEC7 SIGLEC9 SIRT2 SIRT6 SLC17A5 SLC27A5 SMPD1 SMUG1 SOAT1 SPHK1 ST6GAL1 SULF1 TIPARP UGT1A1 UGT2B7 UMOD VCAM1	10038 100507436 10135 10457 1056 10998 1116 11332 11343 122618 1374 1375 1376 142 1463 1544 1545 1555 1557 1559 1571 1576 1581 1583 1584 1586 1588 1589 1593 1636 1737 1892 2131 217 2203 2215 229 22914 22933 23127 23213 23583 250 2530 253430 2539 259230 25976 26033 26503 2678 2683 27036 27180 2719 27306 28 2821 2876 2923 2990 3033 3036 3038 31 3284 3291 3293 3383 34 347527 353 3554 3820 3821 3956 3958 3965 3990 4056 4153 4684 4907 4968 5091 51548 5168 5236 5290 5291 5293 5294 5372 54658 5563 55997 56994 5716 5728 5742 5743 622 6382 6403 64581 6480 65258 6609 6646 6718 684 7364 7369 7412 79143 80201 80339 811 83666 847 8630 8877 9104 912 929 9415 9420 9469 9536 960 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:11615	penile cancer Aliases: Ca penis Penile Ca malignant Penile tumor malignant neoplasm of body of penis penile neoplasm	PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	23583 5290 5291 5293 5294	Homo sapiens (human)	DisGeNET DisGeNET
DOID:5453	pulmonary venoocclusive disease Aliases: pulmonary veno-occlusive disease	ATF4	468	Homo sapiens (human)	Alliance of Genome Resources
DOID:3798	pleural empyema Aliases: Empyema of pleura Empyema of pleura without fistula Empyema with no fistula Empyema with pleural fistula Empyema without mention of fistula Empyema, chest Pleural empyema with fistula Purulent pleurisy Thorax abscess abscess of pleural cavity abscess of thorax empyema empyema with fistula lung empyema pleural empyema with no fistula purulent pleuritis pyothorax	CEACAM5 HACD1	1048 9200	Homo sapiens (human)	DisGeNET
DOID:2754	glycogen storage disease VI Aliases: Glycogen storage disease 6 Hers' disease glycogen storage disease type VI hepatic glycogen phosphorylase deficiency hepatophosphorylase deficiency glycogenosis	APRT ENO2 G6PC1 GAA GBE1 IMPA1 PFKM PYGL PYGM	2026 2538 2548 2632 353 3612 5213 5836 5837	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:10881	hand, foot and mouth disease Aliases: Vesicular stomatitis and exanthem	CERS1	10715	Homo sapiens (human)	DisGeNET
DOID:9261	nasopharynx carcinoma Aliases: Nasopharyngeal carcinoma malignant Nasopharyngeal tumor malignant neoplasm of nasopharynx nasopharynx cancer	ABO ACE ADH1B AGK AKR1B10 ALDH2 ALPI ALPP AMACR ANXA5 ANXA7 APRT ARSA ART1 BDH2 BST2 CACNA2D2 CACNA2D3 CALR CD209 CD38 CD44 CD93 CDH13 CEL CLC CPT1A CYB5R2 CYP2E1 DHCR24 EFNA2 ENO1 FASN FCER2 FH FOLR1 GALC GALNT7 GFPT1 GGT1 GPX1 GPX2 GUSB HPGDS HPSE ICAM1 INPP4B KLRK1 LDHA LGALS1 LGALS9 LYPD5 MAPK14 MICA MLYCD MMUT MRC1 MTAP OGG1 OPCML PARP1 PFKFB3 PIGU PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G6 PLA2G7 PLAAT3 PLB1 PLCD3 PNPLA2 PRKAA2 PTEN PTGS2 RECK RPN2 RTN4R RTN4RL1 SDC1 SELP SIRT2 SIRT6 SMPD1 SMUG1 SOAT1 SPHK1 SRGN TIGAR TKT TKTL1 TM7SF2 TP53 TYMP UGT2B17 VCAM1	100507436 1012 1056 10855 11145 113026 1178 125 128869 1374 142 1432 146760 151056 1571 1636 1718 1890 1943 2023 217 2194 2208 2271 22914 22918 22933 23417 2348 23583 23600 248 250 2581 2673 2678 27306 28 284348 2876 2877 2990 308 30835 310 3383 353 3939 3956 3965 410 417 4360 4507 4594 4968 4978 51548 51700 51809 5209 5290 5291 5293 5294 5315 5319 5552 5563 55750 55799 56898 57016 57103 57104 5728 5743 6185 6382 6403 65078 6609 6646 684 7086 7108 7157 7367 7412 7941 811 8277 8398 8434 8821 8877 9254 952 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2321	obsolete dyspepsia	AGA CD14 CHGA COMT CYP2C19 GGT1 PTGDS PTGS1 PTGS2 UGT1A9	1113 1312 1557 175 2678 54600 5730 5742 5743 929	Homo sapiens (human)	DisGeNET
DOID:0060814	Wilson-Turner syndrome Aliases: MRXS6 WTS X-linked intellectual disability-gynecomastia-obesity syndrome mental retardation, X-linked, syndromic 6 mental retardation, X-linked, with gynecomastia and obesity	ACHE	43	Homo sapiens (human)	DisGeNET
DOID:0090085	hypogonadotropic hypogonadism 9 with or without anosmia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:8692	myeloid leukemia Aliases: Non-Lymphocytic Leukemia leukaemia myelogenous leukemia myelogenous myeloid granulocytic leukaemia myeloid granulocytic leukemia myeloid leukaemia	AKR1B1 B3GAT1 CD22 CD33 CD38 CD44 CDH13 CEACAM5 CYP3A5 DLD EBP ETNK1 FCER2 FDPS G6PD GML HPGDS HPSE ICAM1 IDH1 IDH2 IL18R1 KLRK1 LARGE1 MACROD1 MTAP NCAM1 PCYT1A PGP PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PPP1R3A PTEN PTGS2 SIGLEC7 SMC3 SMPD3 UGT1A1 VCAM1	1012 1048 10682 10855 1577 1738 2208 2224 22914 231 2539 27036 27087 27306 2765 283871 28992 3383 3417 3418 4507 4684 5130 5286 5290 5291 5293 5294 5338 54658 5506 55500 55512 5728 5743 7412 8809 9126 9215 933 945 952 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1757	facial hemiatrophy Aliases: PARRY-ROMBERG SYNDROME	CD38	952	Homo sapiens (human)	DisGeNET
DOID:13938	amenorrhea Aliases: absence of menstruation amenia	CYP17A1 CYP19A1 HJV	148738 1586 1588	Homo sapiens (human)	DisGeNET
DOID:0070382	developmental and epileptic encephalopathy 95 Aliases: DEE95 early infantile epileptic encephalopathy 95	PIGS	94005	Homo sapiens (human)	Alliance of Genome Resources
DOID:14159	obstructive hydrocephalus	ACSM3 ARSB B3GALNT2 B3GAT3 B3GLCT B4GAT1 CHST3 CNTN5 CNTN6 COMT CRPPA DAG1 DHCR24 EBP EOGT FIG4 FKRP FKTN GALC GBA1 GLDC GMPPB GPC3 GUSB IDS IDUA INPP5E L1CAM LARGE1 MBOAT7 MTM1 NANS NT5E OGDH PAFAH1B1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG POMGNT1 POMGNT2 POMK POMT1 POMT2 PTDSS1 PTEN RXYLT1 SFTPA1 SFTPA2 SFTPC SFTPD SLC17A5 SUMF1 UGCG	10329 10585 10682 11041 1312 145173 148789 1605 1718 2218 2581 26229 2629 26503 2719 27255 2731 285203 285362 2990 29925 29954 3423 3425 3897 411 4534 4907 4967 5048 5160 5290 5291 5293 5294 53942 54187 55624 56623 5728 6296 6440 6441 653509 729238 729920 7357 79143 79147 84197 84892 9215 9469 9791 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0111063	hyperphosphatemic familial tumoral calcinosis Aliases: HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia	ALPL ANXA5 ENPP1 GALNT3 KL	249 2591 308 5167 9365	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1142	alternating exotropia	ACADSB DPAGT1 HADHA NGLY1 PIGQ PRPS1 SLC17A5 SLC35A2	1798 26503 3030 36 55768 5631 7355 9091	Homo sapiens (human)	DisGeNET
DOID:2170	vaginitis	ABO CTNS GALNS GLA LYZ MBL2	1497 2588 2717 28 4069 4153	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110148	Charcot-Marie-Tooth disease type 1A Aliases: CMT1A Charcot-Marie-Tooth neuropathy type 1A HMSN1A autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A hereditary motor and sensory neuropathy 1A microduplication 17p12	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 DisGeNET
DOID:14449	mixed gonadal dysgenesis	PGD	5226	Homo sapiens (human)	DisGeNET
DOID:12451	sulfhemoglobinemia	APRT CYB5R3 CYP1A2 DLD G6PC1 G6PD	1544 1727 1738 2538 2539 353	Homo sapiens (human)	DisGeNET
DOID:0112319	Kanzaki disease Aliases: NAGA deficiency type 2 adult-onset alpha-N-acetylgalactosaminidase deficiency alpha-N-acetylgalactosaminidase deficiency type 2	NAGA	4668	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:8574	lichen disease	CALR CAT HPGDS PTGS2 XYLT2	27306 5743 64132 811 847	Homo sapiens (human)	DisGeNET
DOID:0070253	congenital disorder of glycosylation type IIa Aliases: Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth	MGAT2	4247	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources

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