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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 **6251 - 6275** of **7942** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:4183	pseudopseudohypoparathyroidism Aliases: Normocalcemic pseudohypoparathyroidism	APRT ASAH1 GPC1	2817 353 427	Homo sapiens (human)
DOID:4184	pseudohypoparathyroidism	ADH1A APRT ASAH1 COMT CYP27B1 CYP2R1 DGCR2 GPC1 HADHA HADHB ST8SIA4 STS	120227 124 1312 1594 2817 3030 3032 353 412 427 7903 9993	Homo sapiens (human)
DOID:4188	echolalia	ATP6AP2 HGSNAT SLC35C1	10159 138050 55343	Homo sapiens (human)
DOID:4189	mutism	TMTC2	160335	Homo sapiens (human)
DOID:419	scleroderma Aliases: dermatosclerosis	ACACA ACE ACOT7 ACSBG1 ALDH3A2 ALOX5 BST2 CAT CD14 CD1D CD22 CD248 CD44 CD72 CEL CHI3L1 CHST8 CYP1A1 CYP21A2 CYP2B6 CYP2C9 DCN DGKQ DLAT ENPP2 FCGR3B FCN2 FCN3 FOLR2 GLB1 GPI HPGDS HPRT1 HSPG2 ICAM1 ICAM2 IL1R1 IL1RAP KL KLRB1 LGALS3 LGALS9 MBD4 OXCT1 PARP1 PARP9 PGM1 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PLD3 PLD4 PTEN PTGS2 SDC1 SDC2 SDHC SELE SELL SFTPD SIGLEC1 SLC27A5 SLC33A1 SMUG1 SOAT1 ST3GAL1 ST6GAL1 SULT1E1 TM7SF2 TPI1 VCAM1 XYLT2	1056 10998 1116 11332 122618 142 1543 1555 1559 1589 1609 1634 1636 1737 2215 2220 224 23205 2350 23583 23646 240 2720 27306 2821 31 3251 3339 3383 3384 3554 3556 3820 3958 3965 5019 5168 5236 5287 5290 5291 5293 5294 5329 57124 5728 5743 6382 6383 6391 6401 6402 64132 64377 6441 6480 6482 6614 6646 6783 684 7108 7167 7412 83666 847 8547 8930 912 9197 929 933 9365 960 971	Homo sapiens (human)
DOID:4193	intracranial thrombosis Aliases: cerebral thrombosis	PCYT1A	5130	Homo sapiens (human)
DOID:4194	glucose metabolism disease Aliases: disorder of glucose metabolism	Gck Hk1 Hk2 Hk3 Tlr4	24385 25058 25059 25060 29260	Rattus norvegicus (Norway rat)
DOID:4194	glucose metabolism disease Aliases: disorder of glucose metabolism	ACSL1 DGKA DGKB DGKG DHCR24 G6PC1 GCK HK1 HK2 HK3 HKDC1 IRS2 PIK3CB PIK3CD SLC2A2 TLR4	1606 1607 1608 1718 2180 2538 2645 3098 3099 3101 5291 5293 6514 7099 80201 8660	Homo sapiens (human)
DOID:4194	glucose metabolism disease Aliases: disorder of glucose metabolism	Gck Hk1 Hk2 Hk3 Hkdc1 Tlr1 Tlr2 Tlr4 Tlr6	103988 15275 15277 212032 216019 21897 21898 21899 24088	Mus musculus (house mouse)
DOID:4194	glucose metabolism disease Aliases: disorder of glucose metabolism	Tl	43222	Drosophila melanogaster (fruit fly)
DOID:4194	glucose metabolism disease Aliases: disorder of glucose metabolism	EMI2 HXK1 HXK2	850614 852128 852639	Saccharomyces cerevisiae S288C
DOID:4195	hyperglycemia	Adrb1 Akr1b1 Gck Htr2a Ldha Lepr Pdx1 Pklr Ppargc1a	24192 24385 24533 24536 24651 24925 29535 29595 83516	Rattus norvegicus (Norway rat)
DOID:4195	hyperglycemia	CDC19 GCY1 GLK1 PYK2 YPR1	850317 851193 851974 854287 854529	Saccharomyces cerevisiae S288C
DOID:4195	hyperglycemia	Adrb1 Akr1b1 Gck Htr2a Ldha Lepr Pdx1 Pla2g4a Ppargc1a	103988 11554 11677 15558 16828 16847 18609 18783 19017	Mus musculus (house mouse)
DOID:4195	hyperglycemia	Hex-t1 Ldh PyK Sdc trol	117364 37447 42620 45320 45880	Drosophila melanogaster (fruit fly)
DOID:4195	hyperglycemia	ACACA ACAT1 ACE ACHE ACSM3 AKR1B1 ALDH2 ALDOB ANXA5 APRT ARSA ASAH1 CAT CD33 CD44 CEACAM5 CEL CERS2 CPT1A CPT2 CTSA CYP11A1 CYP1B1 CYP2C9 CYP2E1 DCN DEGS1 DGKD DLD ELOVL1 ELOVL5 ENO1 ENO2 ENPP1 EPHX2 FASN FBXO2 FCGR3B G6PC1 G6PC2 GAD1 GAL3ST1 GALNT2 GCK GFPT1 GFPT2 GGT1 GLDC GLO1 GLUL GPX1 GPX5 GUSB GYS2 HAS2 HK2 HK3 HKDC1 HPGDS HPRT1 HPSE HSD11B1 HSPG2 HTR2A ICAM1 IL1R1 INPP5F KL KLRK1 LDHA LEPR LGALS1 LGALS3 LPCAT3 LPL MBL2 MCAT MGAM MPG NAMPT NEU1 OGG1 PARP1 PC PCK1 PCK2 PDHX PDX1 PFKM PIK3CA PIK3CB PIK3CD PIK3CG PKLR PKM PLA2G2A PLA2G4A PLA2G6 PLAUR PLB1 PNPLA3 PPARGC1A PRKAA2 PRNP PTEN PTGDS PTGS1 PTGS2 RENBP SCD SCP2 SDC1 SDC2 SDC4 SELE SGPL1 SI SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A2 SLC2A3 SLC2A4 SLC35A1 SLC35G1 SLC5A1 SMUG1 SOAT1 SORD ST3GAL4 SULT1E1 TKT TM7SF2 UGCG VCAM1 VCAN	10135 10162 1048 10559 1056 10855 10891 1374 1376 142 1462 151056 1545 1559 1571 1583 159371 1634 1636 1738 2023 2026 2053 217 2194 2215 22876 229 22914 22933 231 23583 2538 2571 2590 26232 2645 26503 2673 2678 27036 27306 2731 27349 2739 2752 2876 2880 2990 29956 2998 3037 308 3099 31 3101 3251 3290 3339 3356 3383 353 3554 3651 38 3939 3953 3956 3958 4023 410 4153 427 43 4350 4758 4968 5091 5105 5106 51548 5167 5213 5290 5291 5293 5294 5313 5315 5320 5321 5329 5476 5563 5621 5728 5730 5742 5743 57818 5973 60481 6296 6319 6342 6382 6383 6385 6401 6476 64834 6484 6514 6515 6517 6523 6646 6652 6783 7086 7108 7357 7412 80201 80339 8050 8398 847 8527 8560 8879 8972 9365 945 9514 960 9945	Homo sapiens (human)
DOID:420	hypertrichosis	ACACA AGPAT2 ARSB COG7 CYP11B1 CYP21A2 ECHS1 FUCA1 GLB1 GNS GUSB H6PD HGSNAT HSD3B2 IDS MAN2B1 NAGLU NANS PAPSS2 PDHA1 PTGDS SDHA SGSH SMC3 SRD5A3 XYLT1	10555 138050 1584 1589 1892 2517 2720 2799 2990 31 3284 3423 411 4125 4669 5160 54187 5730 6389 64131 6448 79644 9060 9126 91949 9563	Homo sapiens (human)
DOID:4202	brain stem glioma Aliases: Brainstem Neuroglial tumor	DHDDS IDH1 IDH2 PIK3CA	3417 3418 5290 79947	Homo sapiens (human)
DOID:4205	cerebellum cancer Aliases: cerebellar cancer malignant tumor of Cerebellum	PTEN	5728	Homo sapiens (human)
DOID:4210	clear cell meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)
DOID:4217	malignant ovarian Brenner tumor	PIK3CA	5290	Homo sapiens (human)
DOID:422	congenital structural myopathy	ACHE B4GAT1 CD38 CHAT CHKB CLEC10A CYP19A1 FKRP FKTN GFPT1 GMPPB HACD1 IDS LARGE1 MTM1 MTMR14 MTMR1 MTMR2 OVGP1 POMGNT1 POMT1 SIRT4 SLC2A4	10462 10585 1103 11041 1120 1588 2218 23409 2673 29925 3423 43 4534 5016 55624 64419 6517 79147 8776 8898 9200 9215 952	Homo sapiens (human)
DOID:4223	pyoderma	GALNS	2588	Homo sapiens (human)
DOID:4226	endometrial stromal sarcoma Aliases: ESS Undifferentiated endometrial sarcoma endometrial stromal sarcoma, high grade	CYP19A1 HPRT1 NCAM1 TKTL1	1588 3251 4684 8277	Homo sapiens (human)
DOID:423	myopathy	ACACA ACADM ACADS ACADVL ACE AGK AGL AGPAT2 AKR1A1 ALG14 ALG2 ANXA5 B3GALNT2 B4GALT1 CAT CD109 CD38 CHST14 CNTN1 COL9A2 COLEC12 CPT2 CRPPA CYP2B6 CYP2E1 CYP3A4 CYP3A5 DAG1 DCN DGAT1 DPAGT1 FKRP FKTN G6PC1 G6PD GAA GBE1 GFPT1 GMPPB GNE GYG1 HADHA HADHB HPGDS INPP5K LARGE1 LDHA LPIN1 LPIN2 MGAM MTM1 MTMR14 MTMR1 MTMR2 NCAM1 NPL PGAM2 PGK1 PGM1 PIK3C2A PKD1L2 PNPLA2 POMGNT1 POMT1 POMT2 PRKAA2 PRNP PTEN PTGS2 PYGM SDHA SDHB SFTPA1 SFTPC SI SMUG1 TM7SF2 TPI1	10020 10327 10555 10585 113189 114780 1272 1298 135228 1376 148789 1555 1571 1576 1577 1605 1634 1636 178 1798 199857 2218 23175 23583 2538 2539 2548 2632 2673 2683 27306 2992 29925 29954 3030 3032 308 31 34 35 37 3939 4534 4684 51763 5224 5230 5236 5286 55624 5563 55750 5621 57104 5728 5743 5837 6389 6390 6440 64419 6476 653509 7108 7167 729920 79147 80896 81035 847 85365 8694 8776 8898 8972 9215 952 9663	Homo sapiens (human)

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