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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 **3701 - 3725** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:1562	chromoblastomycosis Aliases: Chromomycosis Mossy foot disease	CLEC7A	64581	Homo sapiens (human)	DisGeNET
DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5 Aliases: MDDGA5 Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	FKRP	79147	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:5500	cellular ependymoma	AKR1A1 ASAH1 CALR CD38 CD44 CHI3L1 IDH1 IDH2 IL18R1 IL1R1 L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 TDG TNFRSF10C	10327 1116 3417 3418 3554 3897 427 5290 5291 5293 5294 5728 5743 6996 811 8794 8809 952 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3523	brain stem infarction Aliases: Brainstem infarction	ACACA ACE ACSM3 ADH1B ADPRS AKR1A1 ALDH2 ALDH7A1 ALOX5 CAT CD14 CYP11B2 CYP1A1 CYP2C19 CYP3A4 CYP3A5 CYP4A11 CYP4F2 EBP ENO1 ENO2 ENPP2 EPHX2 FCN1 G6PD GAL3ST1 GLUL GPI HPGDS HSPG2 ICAM1 IMPA1 ISYNA1 LCAT LGALS3 LPL MAG MGLL NAMPT OLR1 PARP1 PCYT1A PFKFB3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLA2G7 PRNP PTEN PTGIS PTGS1 PTGS2 RGMB RTN4R SELE SELP SFTPD SIGLEC7 SIRT2 SLC33A1 SLC35A1 SLC5A1 ST3GAL4 TBXAS1 TIGAR TM7SF2 UGCG XYLT2	10135 10327 10559 10682 11343 125 142 1543 1557 1576 1577 1579 1585 1636 2023 2026 2053 217 2219 22933 240 2539 27036 27306 2752 2821 285704 31 3339 3383 3612 3931 3958 4023 4099 4973 501 5130 51477 5168 5209 5290 5291 5293 5294 5321 54936 5621 57103 5728 5740 5742 5743 6296 6401 6403 64132 6441 6484 65078 6523 6916 7108 7357 7941 847 8529 9197 929 9514	Homo sapiens (human)	DisGeNET
DOID:12119	hemosiderosis Aliases: haemosiderosis	ACSM3	6296	Homo sapiens (human)	DisGeNET
DOID:557	kidney disease Aliases: impaired renal function disease nephropathy	ABO ACACA ACACB ACE ACSL1 AGPAT2 AKR1B1 ALG1 ALOX12 ALOX15 ALOX5 ALPL ANXA5 APRT ARSA ART1 ATP6AP2 C1GALT1 C1GALT1C1 CALR CAT CD38 CD44 CD48 CD74 CDH13 CEL CHI3L1 CHIT1 CLC CNTN3 COLEC11 CTNS CYP11A1 CYP19A1 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP3A5 DCN DDOST DGKE DLST ELOVL5 ENO1 ENO2 ENPP1 EPHX2 FADS2 FAR2 FCGR3B FCN2 FH FMOD G6PC1 G6PD GAD1 GAD2 GALNS GAPDH GAS1 GBA3 GCK GFPT1 GLA GLO1 GPNMB GPX3 HAS2 HAS3 HEXB HPRT1 HPSE HSD11B2 HSPG2 ICAM1 IL1R1 INPP5D INPP5E KAT2A KAT2B KHK KL KLB LAYN LCAT LCT LCTL LGALS1 LGALS3 LGALS9 LIPC LTC4S LYZ MASP1 MASP2 MBL2 MDH2 MLYCD NAGLU NAMPT NCAM1 NDST1 NEIL3 NEU1 OGA OGG1 PAFAH1B1 PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G1B PLA2G2A PLA2R1 PLAUR PLB1 PRKAA2 PTEN PTGDS PTGES PTGS1 PTGS2 RENBP RGN SACM1L SCD SDC1 SDC2 SDC4 SDHA SDHB SDHC SDHD SELE SELL SELP SFTPD SGPL1 SIGLEC1 SIGLEC7 SIRT6 SLC17A5 SLC2A2 SLC33A1 SLC37A4 SLC5A1 SMPDL3B SMUG1 SOAT1 SORD SPHK1 ST8SIA4 STS SULT1E1 TBXAS1 TM7SF2 TNF TREH UGCG UGT1A1 UGT1A9 UGT2B17 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	1012 10135 10159 10457 10555 1056 10724 10747 10855 1116 1118 11181 1178 142 143903 1462 1497 151056 152831 1555 1557 1558 1559 1571 1573 1577 1583 1588 1591 1594 1634 1636 1650 1743 197021 2023 2026 2053 2180 2215 2220 2271 22908 22925 231 2331 23417 23583 239 240 246 249 2538 2539 2542 2571 2572 2588 2597 2619 2645 2648 26503 2673 27036 2717 27293 2739 28 2878 29071 3037 3038 3074 308 31 32 3251 3291 3339 3340 3383 353 3554 3635 3795 3931 3938 3956 3958 3965 3990 4056 4069 410 412 4153 417 4191 4669 4684 4758 4968 5048 5067 5091 51548 5167 5290 5291 5293 5294 5310 5311 5319 5320 5329 54600 54658 55247 5563 55711 56052 5648 56623 56913 5728 5730 5742 5743 57733 5973 60481 6319 6382 6383 6385 6389 6390 6391 6392 6401 6402 6403 64131 64132 6441 6514 6523 6614 6646 6652 6783 6916 7108 7124 7357 7367 7369 7412 78989 7903 79679 811 847 8526 8850 8877 8879 9104 9197 9365 9415 952 9536 960 962 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1312	focal segmental glomerulosclerosis Aliases: FGS FSGS focal glomerular sclerosis focal glomerulosclerosis	ACACA ACE ALG13 CD44 CMAS CYP11B2 G6PC1 HPSE IL1R1 LIPC LPL MLYCD NAGLU PKD1 PKD2 PLA2G1B PLA2R1 PLB1 PLCE1 PLCG1 SELP SGPL1 SLC37A4 SMPDL3B VCAN	10855 1462 151056 1585 1636 22925 23417 2538 2542 27293 31 3554 3990 4023 4669 51196 5310 5311 5319 5335 55907 6403 79868 8879 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060222	Scheie syndrome Aliases: mucopolysaccharidosis type 1S mucopolysaccharidosis type IS mucopolysaccharidosis type V	ARSB CAT FUT1 IDUA	2523 3425 411 847	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050809	mucopolysaccharidosis IX	HYAL1 HYAL2	3373 8692	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080211	nodal marginal zone lymphoma	CHIT1	1118	Homo sapiens (human)	DisGeNET
DOID:5895	clear cell cystadenofibroma	PIK3CA	5290	Homo sapiens (human)	DisGeNET
DOID:480	movement disease	ACHE ACO2 ALDH5A1 ALDH7A1 CYB5R3 CYP1A2 CYP21A2 DHCR7 FOLR2 G6PD GBA1 GCDH GLUL HEXA HPRT1 MAN2B1 NGLY1 NTNG1 OGDH PAFAH1B1 PDHA1 PGAP3 PIGN PLB1 PMM2 PPT1 PRNP PSAP PTEN SGSH SLC26A2 SLC2A3 SUCLA2	151056 1544 1589 1717 1727 1836 22854 2350 23556 2539 2629 2639 2752 3073 3251 4125 43 4967 50 501 5048 5160 5373 5538 55768 5621 5660 5728 6448 6515 7915 8803 93210	Homo sapiens (human)	DisGeNET
DOID:0110871	congenital stationary night blindness 2A Aliases: congenital stationary night blindness 2A X-linked	NYX	60506	Homo sapiens (human)	DisGeNET
DOID:0060307	autosomal dominant intellectual developmental disorder Aliases: autosomal dominant mental retardation autosomal dominant non-syndromic mental retardation	LMAN2L ST3GAL4	6484 81562	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110548	autosomal dominant nonsyndromic deafness 17 Aliases: DFNA17 autosomal dominant deafness 17	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:8791	breast carcinoma in situ Aliases: Non-Infiltrating carcinoma of breast carcinoma in situ of breast	AKR1B1 IGF2R	231 3482	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:268	liver angiosarcoma Aliases: angiosarcoma of liver hemangiosarcoma of the Liver	PIK3CA PLCG1 PTEN QTRT1	5290 5335 5728 81890	Homo sapiens (human)	DisGeNET
DOID:12678	hypercalcemia	ACADVL ACE ADH1A AGXT ALG12 ALPL ALPP ATRNL1 CD44 COMT CYP24A1 CYP27B1 CYP2B6 CYP2R1 DLST ENPP1 FH GALNT3 GRHPR HADHA HADHB HOGA1 HSD11B2 IDS KL MDH2 OCRL PIGT PIK3C2A PTGS2 SDHA SDHB SDHC SDHD SLC3A1 SLC5A1 SMUG1 STS	112817 120227 124 1312 1555 1591 1594 1636 1743 189 2271 23583 249 250 2591 26033 3030 3032 3291 3423 37 412 4191 4952 51604 5167 5286 5743 6389 6390 6391 6392 6519 6523 79087 9365 9380 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:12689	acoustic neuroma Aliases: Vestibular Neurilemmoma Vestibular schwannoma	ACHE ALDH1A3 ALOX5 ALPL ARSA B3GAT1 CAT CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP2C9 CYP2E1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 G6PD GAPDH GPX1 HPGDS HPRT1 IDH1 IDH2 IL18R1 LARGE1 LDHA LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NCAM1 NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PRNP PTEN PTGDS PTGS1 PTGS2 SCP2 SDHB SDHC SDHD SIGLEC7 SMUG1 SOAT1 STS TIPARP TMEM165 TNKS VCAN	10232 10724 1462 151056 1543 1545 1559 1571 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2539 2597 25976 27036 27087 27306 2876 3251 3417 3418 3939 3956 3958 4051 410 412 43 4594 4595 4684 4907 4913 5290 5291 5293 5294 5319 5320 5329 55858 5621 5728 5730 5742 5743 6342 6390 6391 6392 64386 6646 7941 8398 847 8658 8809 9215 945 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:4773	congenital mesoblastic nephroma	GPC3	2719	Homo sapiens (human)	DisGeNET
DOID:11963	esophagitis Aliases: acute esophagitis	ABAT ACE AGRN ALPP ARSA ATP6V1A ATRNL1 CALR CHAT COG7 COMT CYP2C19 DDOST DEGS1 ECI1 EXT2 FCSK FUT3 GNE HPGDS IL18R1 IL1R1 MCEE NT5E NTM NTNG1 OCRL PGM3 PIGA PIGN PIK3CA PIK3CB PIK3CD PIK3CG PLB1 PLCE1 PRKCSH PTGES PTGS1 PTGS2 SFTPA1 SFTPA2 SFTPC SLC2A10 SLC35A2 SMC3 SYNJ1 TNF	10020 1103 1312 151056 1557 1632 1636 1650 18 197258 2132 22854 23556 250 2525 26033 27306 3554 375790 410 4907 4952 50863 51196 523 5238 5277 5290 5291 5293 5294 5589 5742 5743 6440 653509 7124 729238 7355 81031 811 84693 8560 8809 8867 9126 91949 9536	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:8568	infectious mononucleosis Aliases: Filatov's disease Gammaherpesviral mononucleosis Monocytic angina Pfeiffer's disease glandular fever mononucleosis	KLRD1 NCAM1	3824 4684	Homo sapiens (human)	DisGeNET
DOID:0080570	congenital disorder of glycosylation It Aliases: congenital disorder of glycosylation 1t	PGM1	5236	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:9597	Krukenberg carcinoma Aliases: Krukenberg neoplasm	CD44 CEACAM5 CEACAM7 PGP	1048 1087 283871 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060653	lethal congenital contracture syndrome 3 Aliases: Israeli Bedouin type B multiple contracture syndrome	PIP5K1C	23396	Homo sapiens (human)	DisGeNET Alliance of Genome Resources

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