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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 **551 - 575** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
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)
DOID:2598	laryngeal benign neoplasm Aliases: laryngeal tumor larynx neoplasm neoplasm of larynx	ACACA ACE ACSS2 ADH1B ADH1C ADH5 ADH7 AKR1A1 ALDH2 ALG1 ANXA5 CAT CD14 CD44 CMAS CYP1A1 CYP1B1 CYP2E1 DCN GAPDH GPX1 HADH HK2 HPGDS HYAL1 INPP4B INPPL1 LGALS1 OGG1 OGT PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PTGS2 SHMT1 SLC2A3 SMUG1 SULT1E1 UGT1A1 UGT1A7 VCAN	10327 125 126 128 131 1462 1543 1545 1571 1634 1636 217 23583 23659 2597 27306 2876 2923 3033 308 3099 31 3373 3636 3956 4968 5290 5291 5293 5294 54577 54658 55902 55907 56052 5743 6470 6515 6783 847 8473 8821 929 960	Homo sapiens (human)
DOID:2048	autoimmune hepatitis Aliases: Autoimmune chronic active hepatitis autoimmune hepatitis with centrilobular necrosis	ACACA ACE ADIPOQ ALDOB ARSA CAT CD1D CD74 CFC1 CHST3 CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP1A2 CYP21A2 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 DBT DLAT FH GPI GPX1 HK1 HPGDS HSD11B2 HSD17B3 HSD17B6 HSD3B2 INPP5D KLRC1 KLRK1 LGALS9 OGT PDIA3 SLC17A5 SLC2A3 SMUG1 TNF UMOD	1544 1555 1557 1559 1571 1576 1583 1584 1586 1588 1589 1629 1636 1737 2271 229 22914 23583 26503 27306 2821 2876 2923 3098 31 3284 3291 3293 3635 3821 3965 410 55997 6515 7124 7369 847 8473 8630 912 9370 9469 972	Homo sapiens (human)
DOID:3525	middle cerebral artery infarction	ACACA ACE AGXT ALDH2 ALOX5 BAD BCAN CAT CD14 CHAT CHI3L1 CYP19A1 CYP2C8 CYP2E1 CYP2J2 ENO1 EPHX2 G6PD GAD1 GAD2 GAPDH GHRL GLUL GSK3B HAS2 HJV HK2 HPRT1 ICAM1 KL LDHA LGALS3 LPIN1 LYPD5 MAG MGLL NAMPT NCAM1 OGG1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLD1 PRKAA2 PTEN PTGS2 RGMA RGMB SFTPD SIRT2 SLC2A1 SLC2A3 SLC5A1 SMUG1 SPHK2 STS TM7SF2 TNF UMOD UPP1	10135 1103 1116 11343 142 148738 1558 1571 1573 1588 1636 189 2023 2053 217 22933 23175 23583 240 2539 2571 2572 2597 2752 284348 285704 2932 3037 3099 31 3251 3383 3939 3958 4099 412 4684 4968 51738 5290 5291 5293 5294 5321 5337 5563 56848 56963 572 5728 5743 63827 6441 6513 6515 6523 7108 7124 7369 7378 847 929 9365	Homo sapiens (human)
DOID:289	endometriosis	ACACA ACE AKR1B1 AKR1C1 AKR1C2 AKR1C3 ALOX5 ALPI ALPP ARSD CAT CD44 CD48 CD55 CD74 CHST3 COMT CPM CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP2B6 CYP2C19 CYP2R1 CYP3A4 CYP4F3 DCN DHRS11 ENO1 ENPP1 ENPP3 EXTL3 FCGR3B GALNT3 GALNT6 GALT GBA1 GPNMB GPX3 HAS1 HK1 HPGDS HPRT1 HPSE HS3ST3B1 HSD11B2 HSD17B1 HSD17B2 HSD17B3 HSD17B7 HSD3B1 HSD3B2 HYAL2 ICAM1 IL18R1 IL1R1 IL1RAP IMPA2 KLRC1 KLRK1 LGALS1 LGALS3 LGALS4 LGALS9 LIPC LIPG MRC1 NCAM1 NT5E OGG1 PARP1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLCB1 PLCB4 PPT1 PSMD10 PTEN PTGES PTGS2 SDC4 SELE SELL SIGLEC7 SLC2A3 SLC2A4 SLC33A1 SMPDL3A SRD5A1 SRD5A2 STS SUCLG2 SULF2 SULT1E1 TECR TNF TYMP UST VCAM1 VCAN	10090 10457 10855 10924 11226 120227 1312 1368 142 1462 1543 1544 1545 1555 1557 1576 1583 1586 1588 1589 1604 1634 1636 1645 1646 1890 2023 2137 2215 22914 231 23236 240 248 250 2591 2592 2629 27036 27306 2878 2923 3036 3098 31 3251 3283 3284 3291 3292 3293 3294 3383 3554 3556 3613 3821 3956 3958 3960 3965 3990 4051 412 414 4360 4684 4907 4968 51478 5167 5169 5290 5291 5293 5294 5320 5332 5538 55959 5716 5728 5743 6385 6401 6402 6515 6517 6715 6716 6783 7124 7412 79154 847 8644 8692 8801 8809 9197 9388 9469 9524 9536 960 962 972 9953	Homo sapiens (human)
DOID:288	endometriosis of uterus Aliases: Endometriosis interna Endometriosis of myometrium Endometriosis, myometrium adenomyosis uterine Adenomyosis	ACACA ACE AKR1B1 AKR1C1 AKR1C2 AKR1C3 ALOX5 ALPI ALPP ARSD CAT CD44 CD48 CD55 CD74 CHST3 COMT CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP2B6 CYP2C19 CYP2R1 CYP3A4 CYP4F3 DCN DHRS11 ENO1 ENPP1 ENPP3 EXTL3 FCGR3B GALNT3 GALNT6 GALT GBA1 GPNMB GPX3 HAS1 HK1 HPGDS HPRT1 HPSE HS3ST3B1 HSD11B2 HSD17B1 HSD17B2 HSD17B3 HSD17B7 HSD3B1 HSD3B2 HYAL2 ICAM1 IL18R1 IL1R1 IL1RAP IMPA2 KLRC1 KLRK1 LGALS1 LGALS3 LGALS4 LGALS9 LIPC LIPG MRC1 NCAM1 OGG1 PARP1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLCB1 PLCB4 PPT1 PSMD10 PTEN PTGES PTGS2 SDC4 SELE SELL SIGLEC7 SLC2A3 SLC2A4 SLC33A1 SMPDL3A SRD5A1 SRD5A2 STS SULF2 SULT1E1 TECR UST VCAM1 VCAN	10090 10457 10855 10924 11226 120227 1312 142 1462 1543 1544 1545 1555 1557 1576 1583 1586 1588 1589 1604 1634 1636 1645 1646 2023 2137 2215 22914 231 23236 240 248 250 2591 2592 2629 27036 27306 2878 2923 3036 3098 31 3251 3283 3284 3291 3292 3293 3294 3383 3554 3556 3613 3821 3956 3958 3960 3965 3990 4051 412 414 4360 4684 4968 51478 5167 5169 5290 5291 5293 5294 5320 5332 5538 55959 5716 5728 5743 6385 6401 6402 6515 6517 6715 6716 6783 7412 79154 847 8644 8692 8809 9197 9388 9469 9524 9536 960 962 972 9953	Homo sapiens (human)
DOID:2998	testicular cancer Aliases: childhood neoplasm of the testis neoplasm of testis pediatric testicular neoplasm testicular tumor testis cancer testis neoplasm	ACACA ACE ALDH1A3 ALDH7A1 ALOX12 ALOX12B ALOX5 ALPP CD44 CLGN CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP2B6 CYP3A5 CYP3A7 ETNK1 FH GCNT1 GGT1 GPC3 HMMR HPGDS HSD17B4 ICAM1 IL18R1 L1CAM LCT LDHC LGALS3 LY6K MCFD2 MRC1 PCYT1A PGD PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN SLC2A5 SMUG1 SPACA3 STS SULF1 SULF2 TKTL1 TP53 UGT1A1	1047 124912 1543 1544 1551 1555 1577 1586 1588 1636 220 2271 23213 23583 239 240 242 250 2650 2678 2719 27306 31 3161 3295 3383 3897 3938 3948 3958 412 4360 501 5130 5226 5290 5291 5293 5294 54658 54742 55500 55959 5716 5728 6518 7157 8277 8809 90411 960	Homo sapiens (human)
DOID:4440	seminoma Aliases: Seminoma, Pure	ACACA ACE ALDH1A3 ALDH7A1 ALOX12B ALOX5 ALPP CD44 CLGN CYP17A1 CYP19A1 CYP1A1 CYP2B6 CYP3A5 CYP3A7 ETNK1 GCNT1 GGT1 GPC3 HMMR HPGDS HSD17B4 ICAM1 IL18R1 KCNQ1 L1CAM LDHC LGALS3 LY6K MCFD2 MRC1 PCNA PCYT1A PGD PIK3CA PIK3CB PIK3CD PIK3CG PLAAT3 PSMD10 PTEN SLC2A5 SMUG1 SPACA3 STS SULF1 SULF2 TKTL1 TYMP UGT1A1	1047 11145 124912 1543 1551 1555 1577 1586 1588 1636 1890 220 23213 23583 240 242 250 2650 2678 2719 27306 31 3161 3295 3383 3784 3897 3948 3958 412 4360 501 5111 5130 5226 5290 5291 5293 5294 54658 54742 55500 55959 5716 5728 6518 8277 8809 90411 960	Homo sapiens (human)
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)
DOID:824	periodontitis Aliases: chronic pericementitis	ACACA ACE ALPP APRT CALR CAT CD14 CD1D CD38 CD44 CD74 CEACAM7 CHGA CYP1A1 CYP1B1 CYP2E1 DDOST DLD ENO1 ENO3 FCGR3B FCN2 FMOD GAD1 GGT1 GLT6D1 GPX1 HPGDS ICAM1 IL18R1 IL1R1 INPP5D KLRB1 MBL2 NAMPT NT5E OCRL PIK3CA PIK3CB PIK3CD PIK3CG PNP PPARA PTGDS PTGES2 PTGES3 PTGES PTGS2 RECK SELE SELL SFTPD SIGLEC5 SLC2A4 SLC33A1 SMC3 ST8SIA4 STS TNF TNFRSF10C VCAM1	10135 10728 1087 1113 1543 1545 1571 1636 1650 1738 2023 2027 2215 2220 2331 250 2571 2678 27306 2876 31 3383 353 3554 360203 3635 3820 412 4153 4860 4907 4952 5290 5291 5293 5294 5465 5730 5743 6401 6402 6441 6517 7124 7412 7903 80142 811 8434 847 8778 8794 8809 912 9126 9197 929 952 9536 960 972	Homo sapiens (human)
DOID:5842	testis seminoma Aliases: Seminoma of testis Seminoma testis testicular Seminoma Pure	ACACA ACE ALPP CD44 CLGN CYP17A1 CYP19A1 CYP1A1 CYP2B6 CYP3A5 CYP3A7 ETNK1 GGT1 HMMR HPGDS ICAM1 IL18R1 L1CAM LDHC LGALS3 LY6K MCFD2 MRC1 PCYT1A PGD PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN SLC2A5 SMUG1 SPACA3 STS SULF1 SULF2 UGT1A1	1047 124912 1543 1551 1555 1577 1586 1588 1636 23213 23583 250 2678 27306 31 3161 3383 3897 3948 3958 412 4360 5130 5226 5290 5291 5293 5294 54658 54742 55500 55959 5716 5728 6518 8809 90411 960	Homo sapiens (human)
DOID:0090003	agenesis of the corpus callosum with peripheral neuropathy Aliases: Andermann syndrome Charlevoix disease corpus callosum agenesis-neuronopathy syndrome	ACACA 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 31 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:0060600	obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum	ACACA 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 31 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:4079	heart valve disease Aliases: Valvular heart disease	ACACA ACE CALR FDPS GALNT1 IDS IL1R1 LRP5 TNF	1636 2224 2589 31 3423 3554 4041 7124 811	Homo sapiens (human)
DOID:3962	thyroid gland follicular carcinoma Aliases: Follicular adenocarcinoma Follicular adenocarcinoma, well differentiated Follicular carcinoma Thyroid adenocarcinoma follicular thyroid carcinoma	ACACA ACE CD44 CEACAM5 CYP24A1 CYP27B1 CYP2R1 DPEP1 ENPP2 GPC3 ICAM1 IDH1 IDH2 KL KLB LGALS3 MINPP1 NCAM1 NTHL1 OGG1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGES3 PTGS2 QPRT SDHB SDHC SDHD SLC2A3 SPHK1 ST6GAL2 ST6GALNAC2 ST6GALNAC4 ST8SIA4 STT3A	1048 10610 10728 120227 152831 1591 1594 1636 1800 23475 27090 2719 31 3383 3417 3418 3703 3958 4684 4913 4968 5168 5290 5291 5293 5294 5728 5743 6390 6391 6392 6515 7903 84620 8877 9365 9562 960	Homo sapiens (human)
DOID:61	mitral valve disease Aliases: Mitral RH valve dis. Rheumatic mitral insufficiency Rheumatic mitral valve changes Rheumatic mitral valve regurgitation chronic rheumatic mitral valve disease of mitral valve rheumatic disease of mitral valve rheumatic mitral valve incompetence	ACACA ACE	1636 31	Homo sapiens (human)
DOID:0080547	metabolic dysfunction-associated steatohepatitis Aliases: MASH NASH non-alcoholic steatohepatitis nonalcoholic steatohepatitis	ACACA ACER3 CPT1A CYP27A1 CYP7A1 LEPR PCK1 SCD SPHK2 TNF	1374 1581 1593 31 3953 5105 55331 56848 6319 7124	Homo sapiens (human)
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	ACACA ACHE ALDH2 B3GALNT2 B4GAT1 CD38 CHKB CNTN1 CRPPA DAG1 FKRP FKTN GBE1 GMPPB HACD1 HK1 INPP5K LARGE1 MTM1 MTMR14 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRKAA2 RXYLT1	10329 10585 11041 1120 1272 148789 1605 217 2218 2632 29925 29954 3098 31 43 4534 51763 55624 5563 64419 729920 79147 84197 84892 9200 9215 952	Homo sapiens (human)
DOID:0110632	megaconial type congenital muscular dystrophy Aliases: congenital megaconial myopathy congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect congenital muscular dystrophy with mitochondrial structural abnormalities megaconial congenital muscular dystrophy	ACACA ACHE ALDH2 B4GAT1 CD38 CHKA CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1119 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:0110639	congenital muscular dystrophy due to integrin alpha-7 deficiency Aliases: congenital muscular dystrophy with ITGA7 deficiency congenital muscular dystrophy with integrin alpha-7 deficiency congenital myopathy due to integrin alpha-7 deficiency	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 CRPPA FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 729920 79147 9200 9215 952	Homo sapiens (human)
DOID:0110636	congenital merosin-deficient muscular dystrophy 1A Aliases: CMD1A MDC1A Merosin-negative congenital muscular dystrophy congenital muscular dystrophy due to laminin alpha2 deficiency	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 CSPG4 DCN FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2 SOAT1	10585 11041 1120 1272 1464 1634 217 2218 2632 3098 31 43 4534 55624 5563 64419 6646 79147 9200 9215 952	Homo sapiens (human)
DOID:0110635	muscular dystrophy-dystroglycanopathy type B5 Aliases: FKRP-related congenital muscular dystrophy MDC1C MDDGB5 congenital muscular dystrophy 1C muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 DAG1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 1605 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:3529	congenital myopathy 1A Aliases: central core disease central core myopathy	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:3191	nemaline myopathy Aliases: Nemaline body disease nemaline rod myopathy rod body disease rod myopathy	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:0110633	rigid spine muscular dystrophy 1 Aliases: Eichsfeld type congenital muscular dystrophy MDRS1 RSMD1 RSS SEPN1-related myopathy classic MmD classic multiminicore disease classic multiminicore myopathy congenital merosin-positive muscular dystrophy with early spine rigidity desmin-related myopathy with Mallory bodies desmin-related myopathy with Mallory body-like inclusions early-onset desmin-related myopathy rigid spine syndrome severe classic form minicore myopathy severe classic form multicore myopathy severe classic form multiminicore disease	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)

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