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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 **3676 - 3700** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:9270	alkaptonuria Aliases: Homogentisate 1,2-dioxygenase deficiency alcaptonuria	CHIT1 SMUG1	1118 23583	Homo sapiens (human)
DOID:0111691	familial adult myoclonic epilepsy 5 Aliases: FAME5 FCMTE5 familial cortical myoclonic tremor and epilepsy 5	CNTN2	6900	Homo sapiens (human)
DOID:8057	olfactory groove meningioma Aliases: meningioma of the Olfactory Groove	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:3614	Kallmann syndrome Aliases: Hypogonadism with anosmia Kallman syndrome Kallman's syndrome familial hypogonadism with anosmia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 ICAM1 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3383 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:869	cholesteatoma	CLEC10A CLEC12B CLEC5A CLEC6A CLEC7A LY75 MGLL MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTGS2 STS TLR2 TLR4	10462 11343 23601 387837 4065 412 4360 5290 5291 5293 5294 5716 5743 64581 7097 7099 93978	Homo sapiens (human)
DOID:0050841	focal hand dystonia Aliases: organic writer's cramp	ALDH5A1 AMT ARSG ASAH1 ATP6V1A CERS1 CLN5 CNTN2 COG8 CYP27A1 CYP2C19 CYP2U1 DBT DHDDS DLAT DPEP1 ECHS1 EPM2A GAD1 GBA1 GCDH GCSH GLB1 GLDC GLYCTK GPI HIBCH HMGCL HPRT1 HSPG2 ISYNA1 MECR MMUT NAGA NEU1 NGLY1 PDHA1 PGAP2 PGAP3 PIGA PIGL PIGN PIGO PIGP PIGQ PIGV PIGW PIGY PIK3C2A PLA2G6 PLB1 PLCB1 POMGNT1 PPT1 PRNP PSAP RFT1 SC5D SCP2 SDHA SDHD SLC39A8 SMUG1 ST3GAL3 ST3GAL5 SUCLA2 SYNJ1	10715 113612 1203 132158 151056 1557 1593 1629 1737 1800 1892 22901 23236 23556 23583 2571 26275 2629 2639 2653 2720 2731 27315 275 2821 284098 3155 3251 3339 427 4594 4668 4758 51102 51227 51477 5160 523 5277 5286 5538 55624 55650 55768 5621 5660 6309 6342 6389 6392 64116 6487 6900 7915 7957 79947 8398 84342 84720 84992 8803 8867 8869 9091 91869 93210 9487	Homo sapiens (human)
DOID:8616	Peyronie's disease Aliases: Induratio penis plastica Peyronie disease Peyronie's Fibromatosis	DCN LIPA PARP1	142 1634 3988	Homo sapiens (human)
DOID:1273	respiratory syncytial virus infectious disease Aliases: RSV respiratory syncytial virus	ACE CD14 CHI3L1 FCGR3B GPI HPGDS ICAM1 IL18R1 ISYNA1 MICA NCAM1 PTGDS PTGIS PTGS2 SFTPA1 SFTPA2 SFTPC SFTPD SIGLEC1 SMPD1 STS TLR4	100507436 1116 1636 2215 27306 2821 3383 412 4684 51477 5730 5740 5743 6440 6441 653509 6609 6614 7099 729238 8809 929	Homo sapiens (human)
DOID:75	lymphatic system disease Aliases: Lymphangiopathy Lymphatic disease disease of lympoid system disorder of lymph node and lymphatics disorder of lymphatic system disorder of lymphoid system lymphatic disorder lympoid system disease	ICAM1 VCAM1	3383 7412	Homo sapiens (human)
DOID:3070	high grade glioma Aliases: Neuroglial tumor glial cell tumor glioma, malignant malignant Neuroglial tumor malignant glioma	ABO ACACA ACACB ACAT1 ACE ACHE ACLY ACOD1 ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSS2 ACYP2 ADH1A ADH1B ADH1C ADH4 ADH6 AGK AGPS AGXT AKR1A1 AKR1B10 AKR1B1 AKR1C3 AKT2 ALDH1A3 ALDH3A1 ALDH7A1 ALG2 ALOX5 ALPI ALPP AMACR ANXA5 ANXA7 APRT ARF4 ARSA ART1 ASAH1 ATP6AP2 ATP6V0A2 ATRN B3GAT1 B4GALNT1 B4GALT5 BAAT BAD BCAN BDH1 BDH2 BRAF BST2 CACNA2D3 CALR CANX CAT CBR1 CD109 CD22 CD248 CD33 CD38 CD44 CD48 CD55 CD74 CD93 CDH13 CDS1 CEACAM5 CEACAM7 CERS1 CERS2 CH25H CHI3L1 CHKA CHPF CHPT1 CHST15 CHSY1 CHSY3 CLC CLEC18B CLEC5A CMAS CNTFR CNTN1 CNTN2 CNTN3 COL9A2 CPT1A CPT1C CS CSPG4 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP27A1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP2J2 CYP46A1 CYP4F3 DAG1 DBT DCN DCTD DEGS1 DGKA DGKI DGKZ DHCR24 DHDDS DLD DPEP1 EBP ECHS1 EFNA1 EFNA2 ELOVL2 ENO1 ENO2 ENOSF1 ENPP1 ENPP2 EXT1 FADS2 FASN FBP1 FBXO17 FCN2 FDFT1 FDPS FIG4 FKTN FMOD FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT14 GALNT2 GALNT7 GAPDH GAS1 GFPT1 GLB1 GLDC GLO1 GLUL GML GOLPH3 GPC1 GPC5 GPD1 GPD2 GPI GPIHBP1 GPNMB GPX1 GPX3 HACD1 HAS2 HEXA HEXB HJV HK1 HK2 HMMR HPGDS HPSE HSD3B7 HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 IDH1 IDH2 IDUA IL18R1 IL1R1 IMPA1 INPP5K INPPL1 ISYNA1 ITPKA KHK KL KLRK1 L1CAM L2HGDH LAYN LDHA LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LPL LSS LYZ MAG MAN2A1 MBD4 MBL2 MCAT ME1 ME2 MELTF MGAT1 MGAT5 MICA MMUT MPG MPI MRC1 MSLN MTAP MTMR3 MUTYH NAMPT NANS NCAM1 NDST1 NEU1 NEU3 NEU4 NT5E OCRL OLR1 OPCML OXCT1 PAFAH1B1 PARG PARP1 PARP3 PCYT1A PDIA3 PFKFB2 PFKFB3 PFKFB4 PFKM PGAM1 PGK1 PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PKD1 PKD2 PKM PLA2G10 PLA2G2A PLA2G4A PLA2G4C PLA2G5 PLAUR PLB1 PLCB1 PLCG1 PLD1 PLD2 PLEKHA8 PLOD3 PLPP1 PLPP3 PNLIP PNP PNPLA2 POMGNT1 PPT1 PRKAA2 PRNP PRPS1 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES PTGS1 PTGS2 QPRT RECK RTN4R SCD SDC1 SDC2 SDC4 SDHA SDHB SDHC SDHD SELP SEMA7A SGMS1 SGMS2 SGPL1 SHMT2 SIGLEC7 SIGLEC9 SIRT2 SIRT6 SLC2A3 SLC2A5 SLC35A1 SLC35A3 SLC35F1 SLC37A4 SLC3A1 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SPTLC1 SRD5A1 SRGN ST6GAL1 ST6GALNAC5 ST8SIA1 ST8SIA2 ST8SIA4 STS SUCLG1 SULF1 SULF2 SULT1E1 SYNJ1 TDG THEM4 TIGAR TKT TKTL1 TM7SF2 TMED5 TNF TNFRSF10C TNKS TP53 TPI1 TREH TUSC3 TYMP UGCG UGDH UGP2 UGT8 UNG VCAM1 VCAN VNN2 VTCN1 XYLT1	10039 100507436 1012 10135 10159 10232 10327 1040 10457 1048 10558 10559 10682 10715 10825 10855 10858 1087 1116 11181 1119 11332 115290 117145 1178 124 125 126 126129 127 1271 1272 1298 129807 130 135228 1374 142 1431 143903 1462 1464 148738 151056 1543 1545 1555 1559 1571 1573 1586 1588 1593 1594 1604 1605 1606 1629 1634 1635 1636 166929 1718 1738 1800 189 1890 1892 1942 1943 2023 2026 208 2131 218 2180 2181 2182 2194 220 2203 2218 2220 2222 2224 222553 2262 22856 22914 22918 22933 231 23205 23213 23236 2331 23443 23475 23545 23583 23600 23601 240 248 250 2526 2538 2539 2542 2571 2583 2590 259230 2597 2619 2673 27036 27087 27180 2720 27306 2731 27349 2739 2752 2765 28 2817 2819 2820 2821 2876 2878 2923 29956 3037 3073 3074 308 3098 3099 31 310 3161 32 3339 3340 3373 337876 3383 338328 3417 3418 3425 353 3554 3612 3636 3706 378 3795 38 3897 3939 3956 3958 3960 3964 3965 4023 4047 4051 4069 4099 410 412 4124 4153 417 4199 4200 4241 4245 4249 427 43 4350 4351 4360 4507 4594 4595 4684 47 4758 4860 4907 4952 497190 4973 4978 501 5019 5048 5067 50999 5130 51363 51477 51548 5167 5168 51703 51763 51809 5208 5209 5210 5213 5223 5230 5287 5289 5290 5291 5293 5294 5305 5310 5311 5315 5320 5321 5322 5329 5335 5337 5338 5406 54187 54898 5538 5552 55556 55624 5563 55750 55799 55902 55907 55959 5621 5631 5652 5660 56848 56898 56994 570 57016 57103 57104 57124 5716 572 5728 5730 5742 5743 622 6319 6382 63827 6383 6385 6389 6390 6391 6392 6403 64083 64131 6472 6480 6489 65078 6515 6518 6519 6609 6646 6715 673 6783 684 6900 6996 7086 7108 7124 7157 7167 730249 7357 7358 7360 7368 7374 7412 7903 79586 79623 79679 7991 79944 79947 80270 811 8128 81849 821 8277 8372 8399 8434 8455 847 84725 8482 8505 8525 85365 8540 8560 8605 8611 8613 8644 8658 8692 873 8794 8802 8809 8867 8875 8877 8879 8897 8930 8985 9023 9162 9200 933 9334 9365 9415 945 9514 952 9536 960 962 972 98 9896	Homo sapiens (human)
DOID:9840	esotropia Aliases: Convergence in manifest squint Internal Strabismus crossed eyes	AGRN ALG9 B3GAT3 CHAT CHST3 CYB5R3 DDOST GBA1 GMPPB PGAP2 PGAP3 PIGL PIGN PIGO PIGT PIGV PIGW PIGY PMM2 SLC35A2	1103 1650 1727 23556 26229 2629 27315 284098 29925 375790 51604 5373 55650 7355 79796 84720 84992 93210 9469 9487	Homo sapiens (human)
DOID:3165	skin benign neoplasm Aliases: neoplasm of skin neoplasm of skin by site skin neoplasm tumor of the skin	ABO ACACA ACE ALOX12 ATRN CAT CD248 CD44 CYP24A1 CYP27A1 CYP27B1 CYP2B6 FUT1 GGT1 GPC3 HPGDS HSD11B1 HSD11B2 ICAM1 INPP5A INPP5K ISYNA1 KDSR LGALS3 LGALS9 LTA4H MICA MRC1 MTAP NCAM1 NTHL1 OCRL OGG1 PARP1 PEMT PIGU PIK3CA PIK3CD PIK3CG PKM PTEN PTGES PTGS2 SDC1 SDHB SIRT2 SIRT6 SORD STT3A SULF2 TALDO1 TDG TNKS2 VCAM1 VCAN XYLT2	100507436 10400 128869 142 1462 1555 1591 1593 1594 1636 22933 239 2523 2531 2678 2719 27306 28 31 3290 3291 3383 3632 3703 3958 3965 4048 4360 4507 4684 4913 4952 4968 51477 51548 51763 5290 5293 5294 5315 55959 57124 5728 5743 6382 6390 64132 6652 6888 6996 7412 80351 8455 847 9536 960	Homo sapiens (human)
DOID:0080488	mucolipidosis	GNPTAB NEU1	4758 79158	Homo sapiens (human)
DOID:0111034	hemochromatosis type 2 Aliases: HFE2 JHH juvenile hemochromatosis	HJV RGMA RGMB	148738 285704 56963	Homo sapiens (human)
DOID:3627	aortic aneurysm Aliases: ruptured aortic aneurysm	ACE ALOX5 CAT CD38 CTSA GAA GAPDH LGALS3 MBD4 MMP17 PCYT1A PTEN PTGS2 SLC2A10 SMUG1 TMTC3 UMOD VCAN	1462 160418 1636 23583 240 2548 2597 3958 4326 5130 5476 5728 5743 7369 81031 847 8930 952	Homo sapiens (human)
DOID:1440	Machado-Joseph disease Aliases: Azorean disease MJD SCA3 spinocerebellar ataxia 3 spinocerebellar ataxia type 3	ARSB GFPT1 GFPT2 PLA2G2A	2673 411 5320 9945	Homo sapiens (human)
DOID:6098	thalamic neoplasm Aliases: malignant neoplasm of thalamus malignant tumor of Thalamus tumor of Thalamus	IDH1	3417	Homo sapiens (human)
DOID:1260	parametritis Aliases: pelvic cellulitis	ABO CHI3L1 CTSA FCGR3B MAN1B1 PIK3CD	1116 11253 2215 28 5293 5476	Homo sapiens (human)
DOID:355	mast-cell sarcoma	CAT CYP24A1	1591 847	Homo sapiens (human)
DOID:0070435	hyperphosphatasia with impaired intellectual development syndrome 3 Aliases: GPIBD8 HPMRS3 glycosylphosphatidylinositol biosynthesis defect 8 hyperphosphatasia with mental retardation syndrome 3	PGAP2	27315	Homo sapiens (human)
DOID:0111338	isolated elevated serum creatine phosphokinase levels Aliases: elevated serum CPK idiopathic hyperCKemia isolated hyperCKemia	ACADM ACADVL AGL ALG14 ALG2 B3GALNT2 B4GALT1 B4GAT1 CHKB COG7 COG8 CPT1A CPT2 CRPPA DAG1 DOLK DPAGT1 DPM1 DPM2 DPM3 ENO3 FKRP FKTN GAA GFPT1 GMPPB GNE HSPG2 INPP5K LARGE1 LDHA LPIN1 OCRL PGAM2 PIGY PKD1 PLA2G6 PNPLA2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PYGM SDHA SUCLA2 SYNJ1 TMEM165	10020 10585 11041 1120 1374 1376 148789 1605 178 1798 199857 2027 2218 22845 23175 2548 2673 2683 29925 29954 3339 34 37 3939 4952 51763 5224 5310 54344 55624 55858 56983 57104 5837 6389 729920 79147 8398 84197 84342 84892 84992 85365 8803 8813 8818 8867 91949 9215	Homo sapiens (human)
DOID:0060292	X-linked chondrodysplasia punctata 1 Aliases: chondrodystrophia calcificans congenita	AGPS ARSH DHCR24 EBP FDFT1 GNPAT NSDHL STS SUMF1	10682 1718 2222 285362 347527 412 50814 8443 8540	Homo sapiens (human)
DOID:0111043	glycogen storage disease IXc Aliases: GSD type 9C GSD type IXc GSD9C glycogen storage disease type 9C glycogen storage disease type IXc glycogenosis type 9C glycogenosis type IXc	ACADM AGL ALDOA APRT EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 GAA GBE1 GLA GYG1 GYG2 GYS2 HADHA LDHA MGAM PFKL PFKM PGAM2 PGK1 PGM1 PHKG2 PYGM SI SLC2A2 SLC37A4	178 1962 2027 2203 226 2538 2542 2548 2632 2717 2992 2998 3030 34 353 3939 5211 5213 5224 5230 5236 5261 57818 5837 6476 6514 7957 8908 8972 92579	Homo sapiens (human)
DOID:0050169	cutaneous lupus erythematosus	SOAT1	6646	Homo sapiens (human)
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	CYP51A1 G6PD GALE GALK1 GALM GALT GP2 LGALS1 UGP2 UGT8	130589 1595 2539 2582 2584 2592 2813 3956 7360 7368	Homo sapiens (human)

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