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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 **5276 - 5300** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110757	type 1 diabetes mellitus 20 Aliases: IDDM20 Insulin-Dependent Diabetes Mellitus 20	ABO ACAN ACE ACOT7 ACSL1 ADH5 AGA AGPAT1 AKR1A1 AKR1B1 ALDH2 ALDH3A2 ALOX12 ALOX15B ALOX5 AMY2A ANXA5 APRT B3GAT1 B4GALNT1 B4GALT1 BAAT CAT CBR1 CD14 CD1D CD209 CD38 CD44 CD48 CD74 CDH13 CEACAM5 CEPT1 CHAT CHST3 CLEC16A CSGALNACT1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2E1 CYP2R1 CYP7A1 DCN DDOST DGCR2 DHCR7 DLAT EFNA1 ENO2 ENPP1 FASN FCER2 FCGR3B FCN2 FKRP FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNT3 GBA3 GCK GLA GLB1 GLO1 GLUL GPI GPX1 GPX3 GYS1 HK1 HK2 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HSD11B1 HSD11B2 HSD17B4 HSPG2 ICAM1 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPPL1 IPPK ISYNA1 KL KLRC3 KLRD1 LDHC LGALS1 LGALS3 LIPC LPL LY6G6D LYPD5 MASP2 MBL2 MGAT1 MGAT5 MICA MIOX NAAA NAMPT NCAM1 OGA PARP1 PDHX PFKFB3 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2C PLA2G6 PLA2G7 PNPLA3 PRKAA2 PRKCSH PTEN PTGS2 REG1B RENBP SCD SDC2 SELE SELL SELP SIRT2 SIRT6 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A8 SLC35A1 SLC35G1 SLC37A4 SLC5A1 SOAT1 ST3GAL4 SULT1E1 TKT TM7SF2 UGT1A1 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	100507436 1012 10135 10327 10390 1048 10554 10559 10724 10747 10855 1103 11332 120227 128 142 1462 154091 1571 1581 1589 1591 1593 159371 1594 1634 1636 1650 1717 1737 175 176 1942 2026 217 2180 2194 2208 2215 2220 224 22933 231 23274 239 240 247 2524 2538 2539 2542 2571 2572 2583 2591 2645 2683 27087 27163 2717 2720 27306 2739 2752 279 28 2821 283871 284348 2876 2878 2997 29988 308 30835 3098 3099 3158 3251 3290 3291 3295 3339 3383 3482 353 3554 3635 3636 3823 3824 3948 3956 3958 3990 4023 4153 4245 4249 4684 51477 51548 5167 5209 5236 5290 5291 5293 5294 54658 55586 5563 55790 5589 570 5728 5743 57733 57818 58530 5968 5973 60495 6319 6383 6401 6402 6403 64131 64132 64768 6484 6514 6515 6517 6523 6646 6783 7086 7108 7369 7412 79147 7941 79679 79837 80339 8050 8398 847 873 8807 8809 912 9173 929 9365 9469 9514 952 960 962 972 9993	Homo sapiens (human)
DOID:0110157	Charcot-Marie-Tooth disease type 2J Aliases: CMT2J Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities Charcot-Marie-Tooth neuropathy type 2J	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)
DOID:0070267	congenital disorder of glycosylation type IIo Aliases: CCDC115-CDG CDG IIo CDG syndrome type IIo CDG2O CDGIIdo Carbohydrate deficient glycoprotein syndrome type IIo Congenital disorder of glycosylation type 2o	CCDC115	84317	Homo sapiens (human)
DOID:0080797	nasal type extranodal NK/T-cell lymphoma	GPX3	2878	Homo sapiens (human)
DOID:11088	asphyxia neonatorum Aliases: Asphyxia - birth Asphyxia, in liveborn infant Birth asphyxia postnatal asphyxia	ALDH7A1 ALG8 CAT ENO2 HSD11B2 MTMR14 PDIA3 PTGS2	2026 2923 3291 501 5743 64419 79053 847	Homo sapiens (human)
DOID:2297	leptospirosis Aliases: Fort Bragg fever Leptospirosis icterohaemorrhagica Rat Catcher's Yellows Weil's disease nanukayami fever spirochetal jaundice	ACAT1 ACHE FUT4 ICAM1 LGALS3 MBL2 SELE	2526 3383 38 3958 4153 43 6401	Homo sapiens (human)
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)
DOID:0110485	autosomal recessive nonsyndromic deafness 27 Aliases: DFNB27 autosomal recessive deafness 27	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)
DOID:0110798	hereditary spastic paraplegia 46 Aliases: SPG46 autosomal recessive spastic paraplegia 46 autosomal recessive spastic paraplegia type 46	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)
DOID:0050633	ocular albinism 1 Aliases: Albinism ocular 1 ocular albinism	STS	412	Homo sapiens (human)
DOID:5810	adenosine deaminase deficiency Aliases: ADA	AMACR CD38 CEACAM5 CEACAM7 CYP2J2 EXTL3 FUT1 GPC5 HPSE IL18R1 LDHC LGALS1 MELTF NCAM1 NT5E PARP1 PDHX PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN PTGS2 SOAT1 SRGN	1048 10855 1087 142 1573 2137 2262 23600 2523 3948 3956 4241 4684 4860 4907 5238 5290 5291 5293 5294 5552 5728 5743 6646 8050 8809 952	Homo sapiens (human)
DOID:5644	tricuspid valve prolapse	PLD1	5337	Homo sapiens (human)
DOID:1927	sphingolipidosis Aliases: sphingolipidoses	ARSA ASAH1 CHIT1 CYP11A1 GALC GBA1 GLA GLB1 IDUA OGA PSAP SGPL1 SMPD1 SMPD2 SMPDL3A	10724 10924 1118 1583 2581 2629 2717 2720 3425 410 427 5660 6609 6610 8879	Homo sapiens (human)
DOID:9840	esotropia Aliases: Convergence in manifest squint Internal Strabismus crossed eyes	AGRN ALG9 B3GAT3 CHAT CHST3 CYB5R3 DDOST GBA1 GMPPB PGAP2 PGAP3 PIGL PIGN PIGO PIGT PIGV PIGW PIGY PMM2 SLC35A2	1103 1650 1727 23556 26229 2629 27315 284098 29925 375790 51604 5373 55650 7355 79796 84720 84992 93210 9469 9487	Homo sapiens (human)
DOID:0070224	progressive familial intrahepatic cholestasis 4 Aliases: PFIC4 TJP2 deficit	HSD3B7	80270	Homo sapiens (human)
DOID:2275	pharyngitis Aliases: Inflamed throat Persistent sore throat Pharyngeal disorder Pharyngitis - acute Sore throat - chronic acute pharyngitis acute sore throat chronic pharyn/nasopharyngitis chronic pharyngitis chronic pharyngitis and nasopharyngitis chronic sore throat	CYP2C19 GALNS PTGS2 UGCG	1557 2588 5743 7357	Homo sapiens (human)
DOID:8929	atrophic gastritis Aliases: gastric atrophy	ABO ACACA ALDH2 CD44 CEACAM5 CHGA CYP2C19 CYP2E1 CYP3A4 DCN GAD1 GLUL GPI L1CAM NAGLU NGLY1 OGG1 PIK3CA PIK3CB PIK3CD PIK3CG PLCE1 PTEN PTGS2 TM7SF2 VTCN1	1048 1113 1557 1571 1576 1634 217 2571 2752 28 2821 31 3897 4669 4968 51196 5290 5291 5293 5294 55768 5728 5743 7108 79679 960	Homo sapiens (human)
DOID:10533	viral pneumonia	ACE CHI3L1	1116 1636	Homo sapiens (human)
DOID:0050788	proximal symphalangism Aliases: Cushing's symphalangism	HSPG2 SDC2	3339 6383	Homo sapiens (human)
DOID:268	liver angiosarcoma Aliases: angiosarcoma of liver hemangiosarcoma of the Liver	PIK3CA PLCG1 PTEN QTRT1	5290 5335 5728 81890	Homo sapiens (human)
DOID:7148	rheumatoid arthritis Aliases: Arthritis or polyarthritis, rheumatic atrophic Arthritis	ABO ACACA ACAN ACE ACOT7 ACSBG1 ADIPOQ ADRB3 AGPAT1 AKR1D1 ALDH1A3 ALOX12 ALOX5 ALPP AMACR ANXA4 ANXA5 APRT ASAH1 ATRNL1 B3GAT1 B3GNT9 B4GALT1 B4GALT7 CALR CAT CD109 CD14 CD1D CD209 CD22 CD248 CD38 CD44 CD48 CD55 CD74 CEMIP CHAT CHI3L1 CHID1 CHST3 CLEC10A CLEC12A CLEC16A CLEC1B CLEC4E CLEC6A CLEC7A CNTFR CNTN2 COG2 COG6 COL9A2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP21A2 CYP2B6 CYP2C19 CYP2E1 CYP2R1 CYP3A4 CYP3A5 CYP7B1 DGKQ DHCR7 DPEP1 EBP ENGASE ENO1 ENPP1 ENPP2 EXT1 FADS1 FADS2 FBXO2 FCER2 FCGR3B FCN1 FCN2 FOLR2 FUT4 GALNT18 GCK GDPD5 GFRA1 GLB1 GNS GPC1 GPC5 GPI GPLD1 GPX1 GUSB GYS1 HAGH HAS1 HAS3 HEXA HEXB HK1 HK2 HMMR HPGDS HPRT1 HPSE HSD11B1 HSD11B2 HSD17B6 HSD17B8 HTD2 HYAL2 ICAM1 IGF2 IL18R1 IL18RAP IL1R1 IL1RAP IL1RAPL1 IL6ST INPP5D ISYNA1 KAT2B KL KLRB1 KLRC1 KLRD1 KLRK1 LCAT LGALS1 LGALS2 LGALS3 LGALS8 LGALS9 LPIN2 LY6G6D LYZ MASP1 MASP2 MBD4 MBL2 MDGA2 MGAT5 MICA MMP17 MMP25 MPG MRC1 MTMR3 MUTYH NAMPT NCAM1 NDST1 NEU1 NT5E OGG1 OLR1 OS9 PARP1 PARP2 PARP9 PCYT1A PDIA3 PFKFB3 PGK1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G7 PLAUR PLB1 PLCG2 PLD1 PLD3 PLD4 PNPLA2 PTEN PTGES PTGS1 PTGS2 RECK RGMB SACM1L SCD5 SCD SDC1 SDC2 SDC3 SDC4 SELE SELL SELP SEMA7A SFTPA2 SFTPD SIGLEC1 SIGLEC7 SIGLEC9 SIRT6 SLC17A5 SLC2A3 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 ST6GAL1 ST6GALNAC5 STS TM7SF2 TNF TPI1 TREH TYMP UGCG UGT1A10 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UNG VCAM1 VTCN1	10038 100507436 10135 10462 10554 10682 10747 10855 10956 109703458 1103 11141 1116 11181 11285 11332 120227 122618 1271 1298 135228 142 151056 1543 1544 155 1555 1557 1571 1576 1577 1586 1588 1589 160364 1604 1609 161357 1636 1717 176 1800 1890 2023 2131 220 2208 2215 2219 2220 2262 22796 22908 22914 23205 23274 2350 23583 23600 23646 239 240 250 2526 26033 26232 26253 2645 26503 2674 2683 27036 27087 27180 2720 27306 2799 28 2817 2821 2822 285704 2876 2923 2990 2997 3029 3036 3038 307 3073 3074 308 30835 3098 3099 31 3161 3251 3290 3291 3340 3383 3481 353 3554 3556 3572 3635 374378 3820 3821 3824 3931 3956 3957 3958 3964 3965 3992 4069 412 4153 4249 427 4326 4350 4360 4595 4684 4758 4907 4968 4973 51266 5130 51477 51548 5167 5168 5209 5230 5236 5290 5291 5293 5294 5310 5319 5320 5321 5329 5336 5337 54575 54576 54577 54578 54657 5648 56848 57104 57124 57214 5728 5742 5743 57511 58530 6319 6382 6383 6385 6401 6402 6403 64386 6441 64581 64772 6480 6515 66005 6609 6614 6646 6718 6900 7108 7124 7167 729238 7357 7374 7412 7923 7941 79679 79966 811 81544 81849 83666 8399 8434 847 84752 8482 8630 8692 8807 8809 8850 8877 8897 8930 912 929 933 9365 9370 93978 9415 9420 9469 952 9536 960 962 9663 9672 972	Homo sapiens (human)
DOID:0050958	spinocerebellar ataxia type 7	ELOVL5 ENPP2 PRNP SPTLC3	5168 55304 5621 60481	Homo sapiens (human)
DOID:0110199	Charcot-Marie-Tooth disease dominant intermediate C Aliases: CMTDIC Charcot-Marie-Tooth neuropathy dominant intermediate C DI-CMTC autosomal dominant intermediate Charcot-Marie-Tooth disease type C	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)
DOID:8649	tongue cancer Aliases: malignant neoplasm of tongue	CALR DAG1 GOLPH3 HPSE KLRC1 LGALS3 LSS NANS PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PTEN PTGS2	10855 1605 3821 3958 4047 5290 5291 5293 5294 5329 54187 5728 5743 64083 811	Homo sapiens (human)
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	POGLUT1	56983	Homo sapiens (human)

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