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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 **2776 - 2800** of **4621** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism
DOID:9955	hypoplastic left heart syndrome	ACE ACSS2 B3GLCT MGAT4A PKD1L2	11320 114780 145173 1636 55902	Homo sapiens (human)
DOID:10892	hypospadias Aliases: familial hypospadias	ALG12 ARSD B3GLCT CD44 COG1 COMT CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP21A2 CYP27B1 DGKK DHCR7 DHRS11 FIG4 HSD17B3 HSD17B7 HSD3B2 LFNG OGT PIGN PIK3CA PIK3CB PIK3CG PLA2G15 PTDSS1 SMC3 SRD5A1 SRD5A2	1312 139189 145173 1543 1545 1583 1586 1588 1589 1594 1717 23556 23659 3284 3293 3955 414 51478 5290 5291 5294 6715 6716 79087 79154 8473 9126 9382 960 9791 9896	Homo sapiens (human)
DOID:1931	hypothalamic disease	AMY1A AMY1B AMY1C APRT CAT CYP17A1 CYP19A1 HPGDS L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PRNP	1586 1588 27306 276 277 278 353 3897 5290 5291 5293 5294 5621 847	Homo sapiens (human)
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	ACE ACHE ALG8 ANXA5 ARSA ASAH1 B3GLCT BAAT BAD CAT CDH13 COMT CPT1C CS CYP19A1 CYP2B6 EFNA5 ENO2 ENPP1 EXT2 FADS2 FASN FUCA1 G6PD GAS1 GLUL GNE GPC1 GPX1 HJV HSD17B3 HSD3B1 INPP5B L1CAM LGALS3 LIPC MBL2 MPDU1 NCAM1 NR1D1 PCNA PHKA1 PIK3C2A PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLOD3 PMM2 PNPLA3 PRKAA2 PTEN PTGS2 SGPL1 SLC2A12 SLC2A1 SLC2A3 SLC2A8 SMUG1 SRD5A1 SRD5A3 UCP2	10020 1012 126129 1312 1431 145173 148738 154091 1555 1588 1636 1946 2026 2132 2194 23583 2517 2539 2619 2752 2817 2876 29988 308 3283 3293 3633 3897 3958 3990 410 4153 427 43 4684 5111 5167 5255 5286 5289 5290 5291 5293 5294 5320 5373 5563 570 572 5728 5743 6513 6515 6715 7351 79053 79644 80339 847 8879 8985 9415 9526 9572	Homo sapiens (human)
DOID:0060858	hypotonia-cystinuria syndrome Aliases: cystinuria with mitochondrial disease	SLC3A1	6519	Homo sapiens (human)
DOID:0110698	hypotrichosis 1 Aliases: Hhs Hts Hypt1 hereditary generalized hypotrichosis simplex	GALNT3 LSS	2591 4047	Homo sapiens (human)
DOID:0080582	hypotrichosis 14	LSS	4047	Homo sapiens (human)
DOID:0110704	hypotrichosis 7 Aliases: Hypt7 Lah2 hypotrichosis, localized, autosomal recessive 2 total Mari type hypotrichosis,	GLB1 PTGS2	2720 5743	Homo sapiens (human)
DOID:4535	hypotrichosis	ALOX12B GALNT3 GLB1 LSS PIGL PTGS2 SULT2B1 XYLT1	242 2591 2720 4047 5743 64131 6820 9487	Homo sapiens (human)
DOID:1702	ichthyosis vulgaris Aliases: Dominant congenital ichthyosiform erythroderma	ALOX12B STS	242 412	Homo sapiens (human)
DOID:1697	ichthyosis Aliases: ichthyoses non-syndromic ichthyosis	ACE ALDH3A2 ALOX12B AMY2B ARSA CERS3 DGAT1 DOLK EBP ELOVL3 ELOVL4 GBA1 HS6ST1 HSD17B6 LPIN2 MPDU1 MSMO1 PIGL PNPLA2 PNPLA6 SGPL1 SRD5A3 STS SULT2B1 SUMF1	10682 10908 1636 204219 224 22845 242 2629 280 285362 410 412 57104 6307 6785 6820 79644 83401 8630 8694 8879 9394 9487 9526 9663	Homo sapiens (human)
DOID:0111313	idiopathic generalized epilepsy 12 Aliases: EIG12	SLC2A1	6513	Homo sapiens (human)
DOID:1827	idiopathic generalized epilepsy Aliases: Generalised epilepsy	ALDH5A1 ASAH1 CACNA2D2 GAD2 GLDC GMPPB MCAT ME2 NPL SLC2A3	2572 2731 27349 29925 4200 427 6515 7915 80896 9254	Homo sapiens (human)
DOID:2797	idiopathic interstitial pneumonia Aliases: Diffuse idiopathic pulmonary fibrosis Idiopathic fibrosing alveolitis	ACE ACO2 ALOX5 ALPI ALPP AMY2A ANXA5 APRT ARSA ASAH1 ATP6AP2 B3GAT1 B3GAT3 CAT CD248 CD44 CD55 CEACAM5 CEACAM7 CEL CEMIP CHAT CHI3L1 CHIT1 CHST15 CTSA CYP27B1 CYP2C9 DCN DEGS1 ELOVL6 ENO1 ENPP2 FASN FCGR3B FOLR2 FUT8 GGT1 GLB1 HAS2 HK2 HPGDS HS6ST1 HS6ST2 ICAM1 IL18R1 IL1RL1 INPP5D KL KLRK1 L1CAM LCLAT1 LDHA LGALS1 LGALS3 LTA4H MICA MPG MRC1 NEU1 NEU3 NT5E OGG1 PARP1 PARP9 PIGN PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G4A PLAUR PRKAA2 PTEN PTGS1 PTGS2 RECK SDC1 SDC2 SDC4 SELE SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SGPL1 SHMT2 SIRT6 SLC27A5 SLC2A10 SLC2A5 SMUG1 SOAT1 SPHK1 SPHK2 SULF1 SULF2 TM7SF2 VCAM1 VCAN	100507436 10159 1048 1056 10825 1087 10998 1103 1116 1118 142 1462 1559 1594 1604 1634 1636 2023 2194 2215 22914 23213 2350 23556 23583 240 248 250 2530 253558 26229 2678 27087 2720 27306 279 3037 308 3099 3383 353 3635 3897 3939 3956 3958 4048 410 427 4350 4360 4758 4907 4968 50 51363 51548 5168 5290 5291 5293 5294 5310 5311 5321 5329 5476 5563 55959 56848 57124 57214 5728 5742 5743 6382 6383 6385 6401 6440 6441 6472 6518 653509 6646 7108 729238 7412 79071 81031 83666 8434 847 8482 8560 8809 8877 8879 90161 9173 9365 9394 960	Homo sapiens (human)
DOID:12559	idiopathic juvenile osteoporosis Aliases: Idiopathic osteoporosis juvenile osteoporosis	CYP19A1 LRP5	1588 4041	Homo sapiens (human)
DOID:0050156	idiopathic pulmonary fibrosis Aliases: FIBROCYSTIC PULMONARY DYSPLASIA IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL cryptogenic fibrosing alveolitis	ACE AKT1 ALOX5 ALPI ALPP ANXA5 ATP6AP2 B3GAT3 CD248 CD55 CEACAM5 CEACAM7 CEL CEMIP CHI3L1 CTSA CYP2C9 DCN ELOVL6 ENPP2 FCGR3B FOLR2 GGT1 GLB1 HK2 HS6ST1 HS6ST2 ICAM1 IL18R1 IL1RL1 KL KLRK1 L1CAM LCLAT1 LDHA LGALS1 LGALS3 LTA4H MICA MPG MRC1 NEU1 NT5E PARP1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PRKAA2 PTEN PTGS1 PTGS2 SDC1 SDC2 SDC4 SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SHMT2 SIRT6 SLC27A5 SLC2A10 SLC2A5 SMUG1 SOAT1 SPHK1 SULF2 TM7SF2 VCAM1 VCAN	100507436 10159 1048 1056 1087 10998 1116 142 1462 1559 1604 1634 1636 207 2215 22914 2350 23583 240 248 250 253558 26229 2678 2720 308 3099 3383 3897 3939 3956 3958 4048 4350 4360 4758 4907 51548 5168 5290 5291 5293 5294 5310 5311 5476 5563 55959 57124 57214 5728 5742 5743 6382 6383 6385 6440 6441 6472 6518 653509 6646 7108 729238 7412 79071 81031 83666 8482 8809 8877 90161 9173 9365 9394	Homo sapiens (human)
DOID:0060250	idiopathic scoliosis	AACS ABO ACE ACHE ACSM1 ACSM3 ALG14 B4GALNT3 CACNA2D1 CDH13 CERS6 CHODL CHST9 CNTFR CYB5R3 DGKB ENPP3 GALNT11 GALNT16 GBE1 GFRA1 HSD17B12 IPMK ITPK1 KLRD1 LARGE1 LIPC ME3 MSMO1 OPCML PLCH1 SLC39A8 SMUG1 ST6GALNAC3 ST8SIA5 TMTC4	1012 10873 116285 1271 140578 1607 1636 1727 199857 23007 23583 253430 253782 256435 2632 2674 28 283358 29906 3705 3824 3990 43 4978 51144 5169 57452 6296 6307 63917 64116 65985 781 83539 84899 9215	Homo sapiens (human)
DOID:0060189	ileitis Aliases: Crohn's ileitis	ACAT1 ACE ACSBG1 ALOX12 ALOX15 ALOX5 ALPL ANXA5 ARSA ASAH1 B4GALT7 CALR CAT CD14 CD177 CD1D CD44 CD55 CEACAM5 CEACAM6 CERK CERS2 CERS6 CH25H CHGA CHI3L1 CHST15 CHST4 CLEC7A CNTN3 CPT1B CRLS1 CSPG4 CTSA CYP27B1 CYP7B1 EFNA5 ENPP2 FDPS FUT2 FUT3 G6PC3 GALM GPIHBP1 GPX1 GPX2 GUSB HACD1 HPGDS HPRT1 HYAL2 ICAM1 IDH2 IL18R1 IL1R1 IL1RAP IL1RL2 INPP5D ISYNA1 KL LAYN LCT LGALS1 LGALS2 LGALS3 LPIN1 LYZ MBL2 MRC1 NAMPT NT5E OGA PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PLCG1 PLD1 PLD2 PRKAA2 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES PTGS1 PTGS2 REG3G RGN SDC1 SDC2 SDC4 SELL SELP SFTPD SGMS2 SGPL1 SGPP1 SGPP2 SI SIGLEC1 SIGLEC8 SIRT6 SLC33A1 SMPD1 SMUG1 SPHK1 ST8SIA2 STS TLR2 TLR4 TM7SF2 VCAM1 VNN1 VTCN1	10135 10164 1048 10724 1113 1116 11285 130120 130367 130589 1375 142 143903 1464 151056 1594 1604 1636 166929 1946 2224 23175 23205 23583 239 240 246 249 2524 2525 253782 27181 27306 2876 2877 2990 29956 308 3251 3383 338328 3418 3554 3556 3635 38 3938 3956 3957 3958 4069 410 412 4153 427 4360 4680 4907 5067 5091 51363 51477 51548 5168 5290 5291 5293 5294 5315 5319 5320 5321 5335 5337 5338 54675 5476 5563 5652 5660 57126 5716 5728 5730 5742 5743 6382 6383 6385 6402 6403 6441 64581 6476 64781 6609 6614 7097 7099 7108 7412 79679 811 8128 81537 8398 8399 847 8692 8808 8809 8876 8877 8879 9023 9104 912 9197 9200 92579 929 9365 9420 9536 960	Homo sapiens (human)
DOID:0060190	ileocolitis	ACAT1 ACE ACSBG1 ALOX12 ALOX15 ALOX5 ALPL ANXA5 ARSA ASAH1 B4GALT7 CALR CAT CD14 CD177 CD1D CD44 CD55 CEACAM5 CEACAM6 CERK CERS2 CERS6 CH25H CHGA CHI3L1 CHST15 CHST4 CLEC7A CNTN3 CPT1B CRLS1 CSPG4 CTSA CYP27B1 CYP7B1 EFNA5 ENPP2 FDPS FUT2 FUT3 G6PC3 GALM GPIHBP1 GPX1 GPX2 GUSB HACD1 HPGDS HPRT1 HYAL2 ICAM1 IDH2 IL18R1 IL1R1 IL1RAP IL1RL2 INPP5D ISYNA1 KL LAYN LCT LGALS1 LGALS2 LGALS3 LPIN1 LYZ MBL2 MRC1 NAMPT NT5E OGA PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PLCG1 PLD1 PLD2 PRKAA2 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES PTGS1 PTGS2 REG3G RGN SDC1 SDC2 SDC4 SELL SELP SFTPD SGMS2 SGPL1 SGPP1 SGPP2 SI SIGLEC1 SIGLEC8 SIRT6 SLC33A1 SMPD1 SMUG1 SPHK1 ST8SIA2 STS TM7SF2 VCAM1 VNN1 VTCN1	10135 10164 1048 10724 1113 1116 11285 130120 130367 130589 1375 142 143903 1464 151056 1594 1604 1636 166929 1946 2224 23175 23205 23583 239 240 246 249 2524 2525 253782 27181 27306 2876 2877 2990 29956 308 3251 3383 338328 3418 3554 3556 3635 38 3938 3956 3957 3958 4069 410 412 4153 427 4360 4680 4907 5067 5091 51363 51477 51548 5168 5290 5291 5293 5294 5315 5319 5320 5321 5335 5337 5338 54675 5476 5563 5652 5660 57126 5716 5728 5730 5742 5743 6382 6383 6385 6402 6403 6441 64581 6476 64781 6609 6614 7108 7412 79679 811 8128 81537 8398 8399 847 8692 8808 8809 8876 8877 8879 9023 9104 912 9197 9200 92579 929 9365 9420 9536 960	Homo sapiens (human)
DOID:8440	ileus Aliases: Ileus of intestine	ACSBG1 CD55 GGT1 PTGES PTGS2 SDHA SDHB SDHC SDHD	1604 23205 2678 5743 6389 6390 6391 6392 9536	Homo sapiens (human)
DOID:0090110	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Aliases: Autoimmune enteropathy type 1 DMSD IDDM-secretory diarrhea syndrome IPEX X-linked autoimmunity-allergic dysregulation syndrome XLAAD XPID autoimmunity-immunodeficiency syndrome, X-linked diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked immunodeficiency, polyendocrinopathy, and enteropathy, X-linked immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked	ADH1A AKR1A1 ANXA5 APRT GPI HPGDS LCT MBL2 NT5E PC PIK3CA PLA2G2A PLA2G6 PLA2R1 PTGS1 SELE SLC17A5 VCAM1	10327 124 22925 26503 27306 2821 308 353 3938 4153 4907 5091 5290 5320 5742 6401 7412 8398	Homo sapiens (human)
DOID:2914	immune system disease	ABO ACAN ACE ACHE ACSBG1 AKR1A1 ALOX5 ANXA5 ARSD ATP6AP2 C1GALT1 C1GALT1C1 CALR CAT CD14 CD177 CD1D CD22 CD248 CD38 CD44 CD55 CD74 CEACAM5 CHI3L1 CLC CLEC12A CLEC16A CLEC7A CNTN2 CPT1C CRYL1 CYP19A1 CYP21A2 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP2R1 CYP3A5 DAG1 DGCR2 DHCR7 DLAT ENO1 ENO2 ENO3 EXT1 EXT2 FCGR3B FCN1 FCN2 FH FOLR2 FUCA1 FUCA2 FUT1 FUT2 GAD1 GAD2 GAL3ST1 GAPDH GCK GLUL GPC3 GPI GPX1 HK1 HPGDS HPRT1 HPSE HSD11B2 HSPG2 ICAM1 IL18R1 IL18RAP IL1R1 IL1RAPL1 IL1RL1 INPP5D KLRB1 KLRC1 KLRD1 KLRK1 LGALS1 LGALS3 LGALS8 LGALS9 LYZ MAG MAN2A1 MANEA MASP2 MBL2 MICA MRC1 NAMPT NCAM1 NEU1 NT5E PARG PARP1 PIGA PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2R1 PLB1 PLCG1 PLCG2 PLD1 PNP PRKAA2 PSMD10 PTEN PTGS2 RENBP SCD SDC1 SELL SELP SIGLEC1 SLC35A1 SLC37A4 SMUG1 SOAT1 SPHK1 SPHK2 TALDO1 TPI1 VCAM1 VTCN1	100507436 10135 10159 10327 1048 10559 10747 10855 11141 1116 1178 120227 126129 142 151056 1555 1557 1571 1577 1588 1589 1591 1594 160364 1604 1605 1636 1717 1737 176 2023 2026 2027 2131 2132 2215 2219 2220 2271 22914 22925 23205 23274 2350 23583 240 2517 2519 2523 2524 2542 2571 2572 2597 2645 2719 27306 2752 28 2821 2876 29071 308 3098 3251 3291 3339 3383 3554 3635 3820 3821 3824 3956 3958 3964 3965 4069 4099 4124 414 4153 43 4360 4684 4758 4860 4907 51084 5277 5290 5291 5293 5294 5315 5319 5335 5336 5337 5563 56848 56913 57124 57126 5716 5728 5743 5973 6319 6382 6402 6403 64581 6614 6646 6888 6900 7167 7412 79679 79694 811 847 8505 8807 8809 8877 912 9173 929 933 9514 952 960 972 9993	Homo sapiens (human)
DOID:4784	immune-complex glomerulonephritis Aliases: Immune Complex Glomerulonephritis	LGALS9	3965	Homo sapiens (human)
DOID:0111936	immunodeficiency 14 Aliases: APDS IMD14 PASLI disease activated PI3K-delta syndrome senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation	PIK3CD	5293	Homo sapiens (human)
DOID:0111953	immunodeficiency 23 Aliases: CID due to PGM3 deficiency IMD23 PGM3-CDG PGM3-related congenital disorder of glycosylation combined immunodeficiency due to PGM3 deficiency	PGM3	5238	Homo sapiens (human)

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