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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 **2276 - 2300** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:9255	frontotemporal dementia Aliases: Wilhemsen-Lynch disease frontotemporal lobar degeneration multiple system tauopathy with presenile dementia pallidopontonigral degeneration	ACE ACHE CEACAM6 CHI3L1 CHIT1 CYP27A1 DLD EXT1 EXT2 FUT10 GFRA2 GLCE GLDC GNE MASP2 PLA2G6 PRNP PSAP SARM1 SMUG1 SPTLC1 ST3GAL4 SUCLA2 TMED9	10020 10558 10747 1116 1118 1593 1636 1738 2131 2132 23098 23583 26035 2675 2731 43 4680 54732 5621 5660 6484 8398 84750 8803	Homo sapiens (human)
DOID:769	neuroblastoma	AACS ACADM ACAT1 ACHE ACO1 ADH1A AKR1B1 ALDH1A3 ALDOC ALOX12 ALOX5 ALPI ALPP AMACR ANXA5 APRT ARSA ARSF ARSH ASAH2 B3GAT1 B3GNT3 B4GALNT1 B4GALT3 CALR CAT CCDC115 CD14 CD177 CD1D CD248 CD38 CD44 CD55 CDH13 CEACAM5 CERK CERS1 CFC1 CHAT CHGA CHKA CHPT1 COMT CS CYP19A1 CYP3A4 CYP3A5 DCN DGCR2 DHCR24 DHDDS DLD EBP ENO1 ENO2 ENPP2 EXTL1 FCGR3B FCN2 FH FIG4 G6PC1 G6PD GAD1 GALNT14 GALNT9 GAPDH GAS1 GBA1 GCNT1 GDPD5 GFRA2 GLB1 GLDC GOLPH3 GPC2 GPC3 GPX1 GUSB HAS3 HK2 HPGDS HPRT1 HPSE HSD17B12 HSD17B6 ICAM1 ICAM2 IL18R1 ITLN1 KLRK1 L1CAM LDHA LDHB LDHC LGALS1 LGALS3 LGALS4 LMAN2 LYPD5 MAG MCAT MGAT2 MGAT5 MGAT5B MGLL MICA MMUT MRC1 MTAP NAGLU NAMPT NANS NCAM1 NCAN NEU4 NT5E OGDH PARP1 PARP2 PARP3 PDIA3 PFKFB3 PGK1 PGP PIK3C2B PIK3C2G PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PLCB1 PNP PNPLA6 POMGNT1 PPT1 PPT2 PRKAA2 PRNP PRPS1 PTEN PTGES PTGS2 QPRT RECK RENBP RTN4R SDC1 SDHA SDHB SDHC SDHD SELE SELP SHMT2 SIGLEC7 SIRT4 SIRT6 SLC2A3 SLC2A5 SLC39A8 SMUG1 SOAT1 SORD SPHK2 ST8SIA1 ST8SIA2 ST8SIA4 SUCLA2 SULF2 SYNJ1 TNFRSF10C TNKS TPI1 TYMP VCAM1 VCAN	10038 10039 100507436 1012 10135 10331 1048 10682 10715 10855 10908 10960 1103 1113 1119 11343 124 129807 1312 142 1431 1462 1463 146664 151056 1576 1577 1588 1604 1634 1718 1738 1890 2023 2026 2134 220 2215 221914 2220 2271 22914 230 231 23236 23409 23475 23583 23600 239 240 248 250 2538 2539 2571 2583 2597 2619 2629 2650 2675 27036 27087 2719 2720 27306 2731 27349 283871 284348 2876 2923 2990 3038 308 3099 3251 3383 3384 34 347527 353 38 3897 3939 3945 3948 3956 3958 3960 4099 410 416 4247 4249 43 4360 4507 4594 4669 4684 48 4860 4907 4967 50614 51144 51548 5168 5209 5230 5287 5288 5290 5291 5293 5294 5319 5320 5321 54187 5538 55600 55624 5563 55959 55997 5621 5631 56624 56848 56994 57124 57126 5728 5743 5973 6382 6389 6390 6391 6392 6401 6403 64083 64116 6472 64781 6489 65078 6515 6518 65985 6646 6652 7167 7412 7903 79623 79947 811 8128 81544 8398 84317 8434 847 8630 8658 8703 8794 8803 8809 8867 912 929 9374 952 9536 960 9896 9993	Homo sapiens (human)
DOID:399	tuberculosis	ACACA ACE ACOT7 ACSBG2 ADH4 AGA AKR1B1 ALDH2 ALDH5A1 ALOX12 ALOX15 ALOX5 ALPI ALPP AMACR ANXA5 APRT ARSA ARSB ART1 ATP6AP1 B3GAT1 BAAT BST1 CALR CAT CBR4 CD14 CD209 CD38 CD44 CD48 CD55 CEL CFC1 CHIT1 CLEC4E CLEC6A CLEC7A CLEC9A CMAS COLEC11 CYP1A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2R1 CYP3A4 CYP3A5 CYP4F3 CYP51A1 CYP7A1 DLD DPAGT1 EHHADH ENO1 ENO2 EXTL3 FASN FCGR3B FCN2 FCN3 FUT2 GALE GALNS GAPDH GCNT2 GK GLA GLO1 GLUL GUSB HACD1 HPGDS HPRT1 HPSE HSD17B6 HSD17B8 HSPG2 ICAM1 IL18R1 IL1R1 KLRB1 KLRK1 LDHC LGALS3 LGALS9 LTA4H LY75 LYZ MASP1 MASP2 MBL2 MICA MLYCD MMUT MPG MRC1 NCAM1 NDUFAB1 NT5E NTM OXSM PARP9 PC PFKM PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLAUR PNP PRKAA2 PTGS2 RBKS RENBP SDC1 SDHD SELL SFTPA1 SFTPA2 SFTPD SIGLEC1 SIRT2 SIRT6 SLC17A5 SLC27A5 SLC2A3 SLC39A8 SMPD1 SMPD2 SMUG1 STS SUCLA2 TLR1 TLR2 TLR6 TMED9 TNF TPI1 UGT1A1 UGT2B7 UMOD UMPS UPP1 VTCN1	100507436 10333 1056 10747 10855 10998 1118 11332 120227 127 1543 1555 1557 1559 1571 1576 1577 1581 1594 1595 1604 1636 1738 175 1798 1962 2023 2026 2137 217 2194 2215 2220 22914 22933 231 23417 23583 23600 239 240 246 248 250 2524 2582 2588 2597 26253 26503 2651 27087 2710 2717 27306 2739 2752 283420 2990 308 30835 31 3251 3339 3383 353 3554 3820 3948 3958 3965 4048 4051 4065 4069 410 411 412 4153 417 4350 4360 4594 4684 4706 4860 4907 50863 5091 51548 5213 5236 5290 5291 5293 5294 5320 5329 537 54658 54732 54995 5563 55907 55997 5648 570 5743 5973 6382 6392 6402 64080 64116 6441 64581 6515 653509 6609 6610 6614 683 7096 7097 7124 7167 729238 7364 7369 7372 7378 78989 7915 7923 79679 811 81616 83666 8399 847 84869 8547 8630 8803 8809 9200 929 93978 952 960 962	Homo sapiens (human)
DOID:10780	primary polycythemia Aliases: Familiar Polycythemia familial erythrocytosis	ACE CD177 FCER2 PKLR SLC17A5	1636 2208 26503 5313 57126	Homo sapiens (human)
DOID:0080537	hypermanganesemia with dystonia 2	SLC39A14	23516	Homo sapiens (human)
DOID:4377	egg allergy Aliases: Allergy to eggs	LYZ MPI PMM2 PTGDS	4069 4351 5373 5730	Homo sapiens (human)
DOID:0050426	Stevens-Johnson syndrome	ACADS ACSS2 AKR1B1 ALOX5 CD33 CYP2B6 CYP2C19 CYP2C9 CYP3A4 FOLR1 FOLR2 HSPG2 MASP2 MICA PARP1 PLA2G15 PTGIS PTGS2 SDHD SGSH SLC17A5 TNF UPP1	100507436 10747 142 1555 1557 1559 1576 231 2348 2350 23659 240 26503 3339 35 55902 5740 5743 6392 6448 7124 7378 945	Homo sapiens (human)
DOID:2491	sensory peripheral neuropathy Aliases: peripheral Sensory Neuropathy sensory neuropathy	AGXT CYP27A1 CYP4F3 GAS1 MTMR2 PKLR PRPS1 SLC33A1 SPTLC1 SPTLC2 SPTLC3	10558 1593 189 2619 4051 5313 55304 5631 8898 9197 9517	Homo sapiens (human)
DOID:3279	spindle cell thymoma Aliases: Medullary Thymoma Thymoma, medullary	PTEN	5728	Homo sapiens (human)
DOID:1802	mononeuritis	SDHD	6392	Homo sapiens (human)
DOID:2388	renal artery disease Aliases: renal vascular disease vascular disorder of kidney	ACE CAT CYP4A11	1579 1636 847	Homo sapiens (human)
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:8544	chronic fatigue syndrome Aliases: CFS Myalgic encephalitis Myalgic encephalomyelitis Postviral fatigue syndrome	ACE ADH5 ALOX5 APRT ARSA B3GAT1 CAT CD14 CD1D CD38 CD44 CD48 CD74 CD93 CEMIP CERS2 CERS6 CH25H CHAT CHGA CLEC12A COMT CPT1A CPT2 CYP17A1 CYP27B1 CYP46A1 DEGS1 DGAT1 FASN FCN1 FOLR2 FUT7 FUT8 GANAB GAPDH GCK GLUL GPI HPGDS HPRT1 HPSE ICAM1 ICAM5 IL1R1 ISYNA1 KL KLRK1 LDHA LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LY75 MASP2 MBL2 MGLL NCAM1 NDST1 NT5E PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PSMD10 PTEN PTGDS PTGES PTGS2 RGMA RTN4R SDC1 SELE SELP SEMA7A SIGLEC12 SIGLEC1 SIRT6 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 ST3GAL4 STS SULT1E1 TMED5 TPI1 VCAM1	10747 10855 10858 1103 1113 11343 128 1312 1374 1376 142 151056 1586 1594 160364 1636 2194 2219 22914 22918 23193 2350 23583 240 2529 2530 253782 2597 2645 27087 27306 2752 2821 29956 3251 3340 3383 353 3554 3939 3956 3958 3960 3964 3965 4065 410 412 4153 4684 4907 50999 51477 51548 5290 5291 5293 5294 5315 5319 5320 5321 56848 56963 5716 57214 5728 5730 5743 6382 6401 6403 6484 65078 6609 6614 6646 6783 7087 7167 7412 8398 847 8482 8560 8694 8877 89858 9023 912 929 9365 952 9536 960 962 972	Homo sapiens (human)
DOID:12697	locked-in syndrome Aliases: Locked in syndrome Locked-in state	ALDH3A2 ARSA COG2 COLGALT1 CYB5R3 DEGS1 ELOVL4 FUCA1 GAD1 GBE1 GLB1 GLYCTK PDHX PLA2G6 PNP POMT1 PRPS1 RPE ST3GAL5 SYNJ1	10585 132158 1727 224 22796 2517 2571 2632 2720 410 4860 5631 6120 6785 79709 8050 8398 8560 8867 8869	Homo sapiens (human)
DOID:14227	azoospermia	ALPI ALPP ART3 CACNA2D1 CAT CD44 CYP19A1 DPY19L2 ELOVL6 FUT1 HJV HPGDS ISYNA1 MICA NDST1 NDST2 NDST3 NDST4 OCRL PARP2 PDHA2 PGD PGK2 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLCH2 SCP2 SRD5A2 STS TEX101	10038 100507436 148738 1588 248 250 2523 27306 283417 3340 412 419 4952 51477 5161 5226 5232 5290 5291 5293 5294 5310 6342 64579 6716 781 79071 83639 847 8509 9348 960 9651	Homo sapiens (human)
DOID:0050590	severe congenital neutropenia	ABO ACE AGA 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 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 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 7355 7372 79947 83666 8794 92579 945 9663	Homo sapiens (human)
DOID:0090004	progressive pseudorheumatoid arthropathy of childhood Aliases: spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome	ACAN ACOT7 CHST3 COMT FADS1 FADS2 GLB1	11332 1312 176 2720 3992 9415 9469	Homo sapiens (human)
DOID:8791	breast carcinoma in situ Aliases: Non-Infiltrating carcinoma of breast carcinoma in situ of breast	AKR1B1 IGF2R	231 3482	Homo sapiens (human)
DOID:379	external ear disease Aliases: Preauricular cyst Preauricular sinus and fistula Preauricular sinus or fistula	SMUG1	23583	Homo sapiens (human)
DOID:0110341	osteogenesis imperfecta type 2 Aliases: OI2 Vrolik type of osteogenesis imperfecta osteogenesis imperfecta type II perinatal lethal osteogenesis imperfecta congenita	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0110717	Warburg micro syndrome 2 Aliases: Micro Syndrome 2 WARBM2	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:13757	excessive tearing Aliases: Epiphora Excessive tear production Watering eye	ARSD	414	Homo sapiens (human)
DOID:5557	testicular germ cell cancer Aliases: germ cell tumor of testis	ACE ALDH1A3 ALDH7A1 ALOX12B ALOX5 ALPP CD44 CLGN CYP17A1 CYP19A1 CYP2B6 ETNK1 GCNT1 GGT1 GPC3 HMMR HPGDS HSD17B4 IL18R1 LDHC LGALS3 MCFD2 MRC1 PGD PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN SLC2A5 SMUG1 STS TKTL1	1047 1555 1586 1588 1636 220 23583 240 242 250 2650 2678 2719 27306 3161 3295 3948 3958 412 4360 501 5226 5290 5291 5293 5294 55500 5716 5728 6518 8277 8809 90411 960	Homo sapiens (human)
DOID:0080678	mucolipidosis III gamma	GNPTG	84572	Homo sapiens (human)
DOID:0111231	congenital muscular dystrophy-dystroglycanopathy type A8 Aliases: MDDGA8 Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8	CRPPA POMGNT2	729920 84892	Homo sapiens (human)

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