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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 **2651 - 2675** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:1227	neutropenia	ABO ACE AGA ALDH2 B3GAT1 CD177 CD33 CEL CHPT1 COG4 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP39A1 CYP3A5 DHDDS FCGR3B FH G6PC1 G6PC3 HMMR IDUA LPIN2 MBL2 MMUT NAMPT NCAM1 PARP1 PARP9 PCCA PCCB PGM3 PIK3CA PIK3CB PIK3CD PIK3CG SELP SLC17A5 SLC27A5 SLC35A1 SLC35A2 SLC37A4 TMTC3 TNF TNFRSF10C UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS	10135 10559 1056 10998 142 1545 1555 1557 1558 1559 1577 160418 1636 175 217 2215 2271 2538 2542 25839 26503 27087 28 3161 3425 4153 4594 4684 5095 5096 51302 5238 5290 5291 5293 5294 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 56994 57126 6403 7124 7355 7372 79947 83666 8794 92579 945 9663	Homo sapiens (human)
DOID:418	systemic scleroderma Aliases: Scleroderma Scleroderma syndrome progressive systemic sclerosis systemic sclerosis	ACACA ACE ACOT7 ACSBG1 ALDH3A2 ALOX5 ANXA5 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 GPX3 HPGDS HPRT1 HSPG2 ICAM1 ICAM2 IL1R1 IL1RAP KL KLRB1 LGALS3 LGALS9 MBD4 MRC1 OXCT1 PARP1 PARP9 PGM1 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PLD3 PLD4 PTEN PTGS2 RBP4 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 2878 308 31 3251 3339 3383 3384 3554 3556 3820 3958 3965 4360 5019 5168 5236 5287 5290 5291 5293 5294 5329 57124 5728 5743 5950 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:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	Hk1 Hkdc1 Kl Pomgnt1	15275 16591 216019 68273	Mus musculus (house mouse)
DOID:0050852	limb ischemia	CIT1 CIT2 CIT3	850361 855732 856107	Saccharomyces cerevisiae S288C
DOID:1059	intellectual disability	Gpi Il1rapl1 Ndst1 Ndst2 Ndst3 Ndst4	114002 292804 295430 29633 317553 362035	Rattus norvegicus (Norway rat)
DOID:0112251	Ghosal hematodiaphyseal syndrome Aliases: Ghosal hematodiaphyseal dysplasia Ghosal syndrome diaphyseal dysplasia-anemia syndrome	TBXAS1	6916	Homo sapiens (human)
DOID:8778	Crohn's disease Aliases: Crohn disease Crohn's disease of colon Crohn's disease of large bowel Granulomatous Colitis Pediatric Crohn's disease	ABO ACACA ACAT1 ACE ACO2 ACSBG1 ACSS2 ADIPOQ ALDH5A1 ALOX12 ALOX5 ALPI ALPP AMT ARSA ATP6V0A2 BCKDHA CBR1 CD14 CD209 CD33 CD38 CD44 CDH13 CEACAM6 CERS1 CHI3L1 CHPT1 CHST15 CLEC10A CLEC12A CLEC16A CYP19A1 CYP1A1 CYP27B1 CYP2J2 CYP3A4 CYP4F2 CYP4F3 DAG1 DHDDS DPEP1 EPHX2 FADS1 FADS2 FCGR3B FCN2 FCN3 FH FUT2 FUT3 G6PC3 GAL3ST2 GALM GALNT2 GAPDH GLB1 GP2 GPX1 GUSB HMMR HPGDS HPSE HSD11B2 ICAM1 IDH1 IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D IPMK ITLN1 KLRK1 LACC1 LCT LGALS3 LGALS4 LGALS9 LPIN2 LPL LTA4H LYZ MACROD2 MASP2 MBL2 MGLL MICA MTMR3 NEU1 NPL NT5E PAFAH1B1 PARP1 PGAP3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLB1 PLCG2 PTEN PTGDS PTGS2 REG1B RFT1 SDC1 SELL SFTPD SLC39A8 SMUG1 SOAT1 SUCLA2 TKT TNF TNFRSF10C UGT1A1 UGT1A7 ULBP1 UST VCAM1	100507436 10090 1012 10462 10715 10747 10855 1116 11343 130589 140733 142 144811 151056 1543 1573 1576 1588 1594 160364 1605 1636 1800 200576 2053 2215 2220 2271 22914 23205 23274 23545 23583 23659 239 240 248 250 2524 2525 253430 2590 2597 2720 27306 275 28 2813 2876 2990 30835 31 3161 3291 3383 3417 3554 3635 38 3938 3958 3960 3965 3992 4023 4048 4051 4069 410 4153 4680 4758 4907 50 5048 51363 5290 5291 5293 5294 5315 5319 5320 5321 5329 5336 54577 54658 55600 55902 56994 5728 5730 5743 593 5968 6382 6402 64090 64116 6441 6646 7086 7124 7412 7915 79947 80329 80896 8398 8399 8529 8547 873 8794 8803 8807 8809 8897 9173 91869 92579 929 93210 9370 9415 945 952 960 9663	Homo sapiens (human)
DOID:0050865	tongue squamous cell carcinoma	ABO ACE ACLY ADH1B ADH1C ADH4 ADH5 ADH7 ADIPOQ AGK AKR1A1 AKR1B10 AKR1C1 AKR1C2 AKR1C3 ALDH2 ALDH7A1 ALOX12 ALOX12B AMACR ANXA5 ANXA9 ARSF ART1 ATRN B3GAT1 CALR CAT CBR1 CD109 CD248 CD33 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS6 CHGA CHI3L1 CHKA CLEC10A CNTN1 COMT CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2E1 CYP2J2 CYP2R1 CYP3A5 CYP4F3 DAG1 DCN DGKA DPAGT1 EBP EFNA1 ENO1 ENO2 FASN FBP1 FCER2 FCGR3B FDPS FOLR2 FUCA1 FUT1 FUT4 GALC GALNT2 GALNT3 GGT1 GPAA1 GPC1 GPC3 GPNMB GPX1 HAS2 HK1 HK2 HMMR HPGDS HPSE2 HPSE HS3ST2 HSD17B1 HSPG2 HYAL1 HYAL2 ICAM1 ICAM5 IDH1 IGF2R IL1RL1 INPP5A ISYNA1 KL KLRK1 L1CAM LDHB LGALS1 LGALS3 LGALS8 LGALS9 LIPA LSS LTA4H LY6K LYPD3 LYPD5 MASP1 MCAT ME1 MGAM MGLL MICA MRC1 MTAP NAMPT NANS NCAM1 NEIL1 NEIL2 NT5E NTHL1 OGG1 PARP1 PCYT1A PDIA3 PFKFB3 PGAM1 PGD PGP PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLAUR PLCD1 PLCE1 PLCG1 PLCH1 PLD2 PLPP2 PRKAA2 PRNP PSMD10 PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 RECK REG1B RTN4R SDC1 SDC2 SELE SFTPA1 SFTPA2 SFTPD SGPP1 SHMT1 SIGLEC7 SIRT2 SIRT4 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC3A2 SLC5A1 SMUG1 SOAT1 SPAM1 ST3GAL4 ST6GAL1 ST8SIA4 STS SULF2 TALDO1 TKTL1 TNFRSF10C TNKS2 TP53 TPI1 TUSC3 TYMP UGT1A10 UGT1A1 UGT1A7 UGT1A9 UMPS UNG UPP2 VCAM1 VTCN1	100507436 1012 10135 10327 10457 10462 1048 10682 10855 1087 1113 1116 1119 11343 120227 125 126 127 1272 128 131 1312 135228 142 151531 1543 1544 1545 1555 1557 1558 1571 1573 1577 1591 1594 1605 1606 1634 1636 1645 1646 1798 1890 1942 2023 2026 217 2194 2203 2208 2215 2224 22914 22933 23007 23409 2350 23583 23600 239 242 2517 2523 2526 252969 253782 2581 2590 2591 2678 27036 27076 27087 2719 27306 27349 28 2817 283871 284348 2876 2923 3037 308 3098 3099 3161 3292 3339 3373 3383 3417 3482 3632 3897 3945 3956 3958 3964 3965 3988 4047 4048 4051 412 416 417 4199 4360 4507 4680 4684 47 4907 4913 4968 501 51196 5130 51477 51548 5209 5223 5226 5290 5291 5293 5294 5315 5321 5329 5333 5335 5338 54187 54575 54577 54600 54658 54742 5563 55750 55959 5621 5648 57016 57124 5716 5728 5730 5740 5742 5743 5968 60495 6382 6383 6401 6441 6470 6480 6484 65078 6514 6515 6517 6520 6523 653509 6646 6677 6888 7087 7157 7167 729238 7372 7374 7412 7903 79661 79679 7991 80351 811 81537 8277 8416 8434 8455 847 8612 8644 8692 873 8733 8794 8972 9173 9365 9370 945 9536 960 972 9956	Homo sapiens (human)
DOID:11701	selective IgA deficiency disease Aliases: Immunoglobulin A deficiency Selective immunoglobulin A deficiency selective IgA immunodeficiency	AGA CLEC16A CYP21A2 FUT2 FUT3 MBL2 PTEN SDC1	1589 175 23274 2524 2525 4153 5728 6382	Homo sapiens (human)
DOID:0080001	bone disease	ACAN ACE ALDH7A1 ALPL ALPP ATP6V0A2 ATRNL1 B3GALT6 B3GAT1 B4GALT7 CD22 CEACAM5 CHI3L1 COL9A2 CTNS CYP24A1 CYP3A5 DCN ENPP1 EXT1 EXT2 FDPS GLB1 GLO1 GPNMB GPX1 HPRT1 IDUA IL1R1 INPPL1 KL KLRB1 MGLL PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLOD3 PNPLA2 SCP2 SDC1 SLC2A10 SOAT1 SPHK2	10457 1048 1116 11285 11343 126792 1298 1497 1577 1591 1634 1636 176 2131 2132 2224 23545 249 250 26033 27087 2720 2739 2876 3251 3425 3554 3636 3820 501 5130 5167 5290 5291 5293 5294 5310 5311 56848 57104 6342 6382 6646 81031 8985 933 9365	Homo sapiens (human)
DOID:0110348	osteogenesis imperfecta type 12 Aliases: OI12 osteogenesis imperfecta type XII	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0060280	primary pigmented nodular adrenocortical disease	APRT	353	Homo sapiens (human)
DOID:0060536	mitochondrial complex I deficiency Aliases: isolated NADH-CoQ reductase deficiency isolated NADH-coenzyme Q reductase deficiency isolated NADH-ubiquinone reductase deficiency isolated mitochondrial respiratory chain complex I deficiency	Slc25a10	27376	Mus musculus (house mouse)
DOID:0060814	Wilson-Turner syndrome Aliases: MRXS6 WTS X-linked intellectual disability-gynecomastia-obesity syndrome mental retardation, X-linked, syndromic 6 mental retardation, X-linked, with gynecomastia and obesity	ACHE	43	Homo sapiens (human)
DOID:13406	pulmonary sarcoidosis Aliases: lung Sarcoidosis	Abo Chi3l1 Il18r1 Tlr2 Tnf	12654 16182 21926 24088 80908	Mus musculus (house mouse)
DOID:0110795	hereditary spastic paraplegia 43 Aliases: SPG43 autosomal recessive spastic paraplegia 43 autosomal recessive spastic paraplegia type 43	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:11166	Human papillomavirus infectious disease Aliases: HPV	IL1RL1	9173	Homo sapiens (human)
DOID:0111064	autosomal recessive distal hereditary motor neuronopathy 1 Aliases: DSMA1 SIANRF SMARD1 autosomal recessive distal spinal muscular atrophy 1 autosomal recessive spinal muscular atrophy with respiratory distress dHMN6 diaphragmatic spinal muscular atrophy distal hereditary motor neuropathy type 6 distal spinal muscular atrophy 1 distal-HMN type 6 severe infantile axonal neuropathy with respiratory failure type 1 spinal muscular atrophy with respiratory distress type 1	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 FUT4 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 TIGAR TMED9	10462 10724 10908 2220 23098 2526 2674 3074 3099 353 427 43 4907 54732 57103 847 9896	Homo sapiens (human)
DOID:0110948	Waardenburg syndrome type 1 Aliases: WS1 Waardenburg syndrome type I	ABO ALPP	250 28	Homo sapiens (human)
DOID:12858	Huntington's disease Aliases: HD Huntington disease Huntington's chorea	BNA6	850608	Saccharomyces cerevisiae S288C
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)
DOID:5378	hemoglobin D disease Aliases: Hb-D disease	ABO FUT1 G6PD NT5E SCD UGT1A1	2523 2539 28 4907 54658 6319	Homo sapiens (human)
DOID:0081219	autosomal recessive intellectual developmental disorder 57	MBOAT7	79143	Homo sapiens (human)
DOID:12662	paracoccidioidomycosis Aliases: Mucocutaneous-lymphangitic paracoccidioidomycosis paracoccidioidal mycosis	Il1rl1 Tnf	17082 21926	Mus musculus (house mouse)
DOID:13948	bladder neck obstruction Aliases: Obstruction of bladder neck or vesicourethral orifice	Htr2a	29595	Rattus norvegicus (Norway rat)

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