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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 **26 - 50** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:4423	sea-blue histiocytosis Aliases: Sea-blue histiocyte syndrome	GLB1 SMPD1	2720 6609	Homo sapiens (human)
DOID:0110530	autosomal recessive nonsyndromic deafness 84B Aliases: DFNB84B autosomal recessive deafness 84B	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0111045	platelet-type bleeding disorder 9 Aliases: BDPLT9 GP Ia deficiency collagen platelet receptor deficiency glycoprotein Ia deficiency	ABO ATP6V0A2 CANX PDIA3	23545 28 2923 821	Homo sapiens (human)
DOID:13884	sick sinus syndrome Aliases: sinus node infection	ACADM ACE ACOT7 ALDH2 ALG10 ALG10B APRT CACNA2D1 CACNA2D2 CALR CAT CD38 CHI3L1 CHPT1 CPT1A CPT2 CYP19A1 EPHX2 GLA GPC3 GPD1L GYG1 HACD1 HADHA HADHB HJV HSPG2 ICAM1 IDS ITPKB LGALS3 PCCA PCCB PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLB1 PRKAA2 PTGS2 SCD SELP SIGLEC7 SLC33A1 SMUG1 SQLE UGCG VCAM1	1116 11332 1374 1376 144245 148738 151056 1588 1636 2053 217 23171 23583 27036 2717 2719 2992 3030 3032 3339 3383 34 3423 353 3707 3958 5095 5096 5130 5236 5290 5291 5293 5294 5563 56994 5743 6319 6403 6713 7357 7412 781 811 847 84920 9197 9200 9254 952	Homo sapiens (human)
DOID:0050848	obstructive sleep apnea Aliases: obstructive sleep apnea syndrome	ACE ACSS2 AGRN ALDOA ALOX5 AMY1A AMY1B AMY1C ANXA5 ARSA ATP6AP2 B3GAT1 CEACAM5 CHAT CHI3L1 CHIT1 COMT CSPG4 CYP1A2 CYP2J2 ENOSF1 GAD1 GHRL GNE GNPTAB GPD1 ICAM1 IDS IDUA IL18R1 KL LEP LEPR LGALS3 NANS NGLY1 NT5E PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2G7 PLCB1 PLCB4 PRKAA2 PTEN PTGDS PTGS1 PTGS2 SCD SFTPC SLC17A5 SLC2A4 SLC33A1 SLC35A2 TM7SF2 TNF VCAM1	10020 10159 1048 1103 1116 1118 1312 1464 1544 1573 1636 226 23236 23659 240 2571 26503 27087 276 277 278 2819 308 3383 3423 3425 375790 3952 3953 3958 410 4907 51738 5290 5291 5293 5294 5332 54187 55556 5563 55768 55902 5728 5730 5742 5743 6319 6440 6517 7108 7124 7355 7412 79158 7941 8809 9197 9365	Homo sapiens (human)
DOID:0050827	rheumatic heart disease Aliases: rheumatic carditis	gapdh	317743	Danio rerio (zebrafish)
DOID:3770	pulmonary fibrosis Aliases: Fibrosis of lung	cht-1 sqv-8	174517 180628	Caenorhabditis elegans
DOID:1679	cystitis	Tnf	21926	Mus musculus (house mouse)
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	large1.L large1.S	108704366 108712551	Xenopus laevis (African clawed frog)
DOID:8534	gastroesophageal reflux disease Aliases: Acid reflux GERD GERD - Gastro-esophageal reflux disease Gastresophageal reflux Gastro-esophageal reflux Gastroesophageal reflux	Tlr2	24088	Mus musculus (house mouse)
DOID:0110510	autosomal recessive nonsyndromic deafness 55 Aliases: DFNB55 autosomal recessive deafness 55	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:9120	amyloidosis Aliases: amyloid disease	ACAN ACAT1 ACE ACHE ADIPOQ AGPS AKR1C4 ALOX12 ALOX15 ALOX5 ANXA5 APRT ARSA CAT CD109 CD14 CD33 CD38 CD55 CD74 CHAT CHI3L1 CHIT1 CHST6 CLEC7A CYP46A1 DCN DEGS1 DGCR2 DPEP1 EHHADH FCN2 G6PD GALNS GAPDH GOT1 GPNMB GPX1 HSD11B1 HSPG2 LYZ MAG MBL2 MICA NAGLU NCAM1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLA2G7 PLD3 PRNP PTGS1 PTGS2 SCD SDC1 SFTPA1 SLC2A12 SMUG1 SOAT1 STS SUCLA2 TNF VCAM1	100507436 10457 10858 1103 1109 1116 1118 135228 142 154091 1604 1634 1636 176 1800 1962 2220 23583 23646 239 240 246 2539 2588 2597 2805 2876 308 3290 3339 353 38 4069 4099 410 412 4153 4166 43 4669 4684 5290 5291 5293 5294 5321 5621 5742 5743 6319 6382 64581 653509 6646 7124 7412 7941 847 8540 8560 8803 929 9370 945 952 972 9993	Homo sapiens (human)
DOID:9820	central gyrate choroidal dystrophy Aliases: Choroidal dystrophy, serpiginous	ACE	1636	Homo sapiens (human)
DOID:13628	favism	ZWF1	855480	Saccharomyces cerevisiae S288C
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	St3gal3	20441	Mus musculus (house mouse)
DOID:1612	breast cancer Aliases: breast tumor malignant neoplasm of breast malignant tumor of the breast mammary cancer mammary tumor primary breast cancer	ABO ACACA ACADM ACADSB ACAT2 ACE ACHE ACLY ACO2 ACOT7 ACOX2 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSM3 ACSS2 ACYP2 ADH1B ADH1C ADH5 ADIPOQ ADPRS AGK AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C2 AKR1C3 AKR1C4 AKT1 ALDH1A3 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALG1 ALG2 ALG3 ALOX12 ALOX15B ALOX5 ALPI ALPL ALPP AMACR ANXA4 ANXA5 ANXA7 APEX1 APRT ARF4 ARSA ARSD ARSF ARSI ASAH1 ASAH2B ATP6AP2 ATP6V0A2 ATRNL1 B3GALNT2 B3GALT4 B3GAT1 B3GNT5 B4GALNT1 B4GALT1 B4GAT1 BAAT BAD BDH1 BDH2 BPHL BST2 C1GALT1 CACNA2D2 CACNA2D3 CALR CANX CAT CBR1 CBR3 CD109 CD14 CD177 CD1D CD22 CD33 CD38 CD44 CD55 CD74 CDH13 CDS1 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CERK CERS2 CERS4 CERS6 CHGA CHI3L1 CHI3L2 CHIT1 CHKA CHPT1 CHST11 CHST15 CHST3 CHST9 CHSY1 CHSY3 CLEC10A CLEC14A CLEC3A CLEC4G CLGN CNTN1 CNTN3 CNTN4 CNTN6 COG3 COLGALT2 COMT CPM CPT1A CPT1C CPT2 CRLS1 CRYL1 CSGALNACT1 CSPG4 CYB5R3 CYB5R4 CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2U1 CYP3A4 CYP3A5 CYP3A7 CYP4F3 CYP7B1 DAG1 DBT DCN DCTD DERA DGKA DGKE DGKG DHCR24 DHDDS DHRS11 DLAT DLD DPAGT1 DPEP1 DSE EBP ECHDC1 ECHS1 EFNA1 EFNA2 EFNA5 ENGASE ENO1 ENO2 ENPP1 ENPP2 EXT1 EXT2 EXTL3 FADS1 FADS2 FASN FBP1 FCGR3B FH FIG4 FKTN FMOD FOLR2 FUCA1 FUT1 FUT2 FUT3 FUT4 FUT6 FUT8 G6PC1 G6PC2 G6PD GAD2 GAL3ST1 GALNS GALNT14 GALNT16 GALNT4 GALNT5 GALNT6 GALNT9 GAPDH GAS1 GCNT2 GCSH GDPD5 GFPT1 GFRA1 GLA GLB1 GLCE GLO1 GLUL GM2A GOLPH3 GPAA1 GPAT2 GPAT3 GPC1 GPC2 GPC3 GPC6 GPD1 GPI GPLD1 GPNMB GPX1 GPX2 GPX3 GPX6 GPX7 GUSB H6PD HACD1 HADHA HADHB HAS1 HAS2 HJV HK1 HK2 HK3 HKDC1 HMGCS2 HMMR HPGDS HPRT1 HPSE2 HPSE HS3ST2 HS3ST3A1 HS3ST3B1 HS6ST3 HSD11B1 HSD11B2 HSD17B12 HSD17B1 HSD17B2 HSD17B4 HSD17B6 HSD17B7 HSD17B8 HSD3B1 HSPG2 HYAL1 HYAL2 ICAM1 ICAM5 IDH1 IDH2 IDS IDUA IGF2 IGF2R IL18R1 IL1R1 IL1RAPL1 IL1RAPL2 IMPA1 INPP4B INPP5D INPP5F INPP5J INPP5K INPPL1 ISYNA1 KAT2B KL KLB KLRK1 L1CAM LALBA LDHA LDHAL6B LDHB LDHC LEP LFNG LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LIPG LPCAT1 LPIN1 LPL LRTOMT LSS LY6K LY75 LYPD5 LYZ MACROD1 MAN1A1 MAN2C1 MANEA MBD4 MBL2 MCAT ME3 MGAM MGAT1 MGAT3 MGAT5 MGLL MICA MMP17 MMP25 MMUT MPG MRC1 MSLN MTAP MTM1 MTMR3 MTMR8 MUTYH NAMPT NANS NCAM1 NDST1 NEIL2 NEU1 NT5E NTHL1 NUDT5 OGA OGDH OGDHL OGG1 OGT OLR1 OPCML OXSM PARG PARP1 PARP2 PARP3 PARP4 PARP6 PARP9 PC PCYT1B PDHB PDHX PDIA3 PEMT PFKFB2 PFKFB3 PFKFB4 PFKM PFKP PGAM1 PGAP3 PGD PGK1 PGLS PGM3 PGP PI4K2A PIGS PIGT PIGU PIGX PIK3C2A PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PIP4K2A PIP4K2B PIP4K2C PIP5K1A PIP5K1C PKD1 PKD2 PKLR PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G4A PLA2G4C PLA2G6 PLA2R1 PLAAT3 PLAUR PLB1 PLCB1 PLCB2 PLCB4 PLCD1 PLCD4 PLCG1 PLCG2 PLD1 PLD2 PLEKHA8 PLPP1 PLPP4 PLPP5 PNLIPRP1 PNP PNPLA2 POFUT1 PPAT PPP1R3A PPP1R3B PPP1R3C PPT1 PRG2 PRKAA1 PRKAA2 PRKCSH PRNP PRPS1 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES3 PTGES PTGIS PTGS1 PTGS2 PYGB PYGM QTRT1 RECK RENBP RGMA RGMB RGN RPN2 SACM1L SCD5 SCD SCP2 SDC1 SDC2 SDC4 SDHA SDHB SDHC SDHD SELE SELP SEMA7A SFTPC SFTPD SGMS2 SGPL1 SHMT1 SHMT2 SIGLEC1 SIGLEC7 SIRT2 SIRT4 SIRT6 SLC26A2 SLC2A10 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A2 SLC35A4 SLC35B2 SLC35G1 SLC39A8 SLC3A1 SLC5A1 SMPD2 SMPD3 SMUG1 SOAT1 SORD SPAM1 SPHK1 SPHK2 SPTLC1 SQLE SRD5A1 SRD5A2 SRGN ST3GAL1 ST3GAL3 ST6GAL1 ST6GAL2 ST6GALNAC1 ST6GALNAC2 ST6GALNAC5 ST8SIA1 ST8SIA2 ST8SIA4 STS SULF1 SULF2 SULT1E1 SUMF1 SYNJ2 TALDO1 TBXAS1 TDG TECTA TEX101 THEM4 TIGAR TKT TKTL1 TLR2 TLR4 TM7SF2 TMED1 TMED3 TMED5 TMEM199 TMTC3 TMTC4 TNF TNFRSF10C TNKS2 TNKS TP53 TPI1 TUSC3 TYMP UGCG UGDH UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A8 UGT1A9 UGT2B15 UGT2B17 UGT2B4 UGT2B7 UGT8 UMOD UMPS UPP1 VCAM1 VCAN VTCN1	10038 10039 100507436 10082 1012 10135 10143 10159 10195 10232 10327 1040 10400 10457 10462 1047 1048 10558 1056 10610 10682 10724 10728 10855 1087 10873 11018 11041 1109 1113 11141 11145 1116 11164 1117 1118 1119 11226 11227 11332 11343 113612 113829 117145 125 126 126129 1272 128 128869 1312 135228 1368 1374 1376 142 143 1462 1464 147007 148738 148789 150763 151056 152330 152831 154091 1543 1544 1545 1551 1555 1557 1558 1559 1571 1573 1576 1577 1583 1584 1586 1588 1591 1593 159371 1594 1604 160418 1605 1606 1608 161198 1629 1634 1635 1636 1645 1646 166929 1718 1727 1737 1738 1798 1800 1836 1890 1892 1942 1943 1946 196051 200576 2023 2026 207 2131 2132 2137 217 218 2180 2181 2182 219 2194 220 220074 2203 2215 2218 221914 226 2271 22856 22876 22908 22914 22925 22933 231 23127 23175 23205 23213 23236 2331 23396 23409 23423 2350 23509 23545 23583 23600 23659 239 240 247 248 249 250 2517 2523 2524 2525 2526 2528 252969 2530 253782 2538 2539 2572 257202 25796 2583 2588 2597 26033 26035 2619 26279 26280 2651 2653 266722 2673 2674 2683 27036 27087 27124 2717 2719 2720 27255 27306 27349 2739 2752 2760 28 2817 2819 2821 2822 283871 284348 285362 285704 2876 2877 2878 2882 28992 2923 2990 29940 29956 3030 3032 3036 3037 307 308 3098 3099 31 310 3101 3158 3161 3251 328 3283 3290 3291 3292 3294 3295 3339 3340 3373 337876 3383 339390 34 340075 3417 3418 3423 3425 347734 3481 3482 353 3554 36 3612 3635 3636 378 3897 39 3906 3939 3945 3948 3952 3955 3956 3958 3960 3964 3965 3992 4023 4047 4051 4065 4069 410 412 4121 4123 414 4153 416 4245 4248 4249 427 43 4326 4350 4360 4507 4534 4594 4595 4680 4684 47 4758 4860 4907 4913 4967 4968 4973 4978 50 501 50515 50614 5067 5091 50999 51071 51084 51144 51167 51363 51477 51478 51548 51604 5162 5167 5168 51703 51763 5208 5209 5210 5213 5214 5223 5226 5230 5238 5286 5287 5289 5290 5291 5293 5294 5305 5310 5311 5313 5315 5319 5320 5321 5329 5330 5332 5333 5335 5336 5337 5338 5407 54187 54575 54576 54578 54600 54657 54658 54659 54675 5471 54742 54936 54965 54995 5506 5507 55361 5538 55512 5552 5553 55613 5562 5563 55750 55753 55790 55799 55808 55862 5589 55902 55959 56052 5621 5631 5652 5660 56848 56898 56913 56963 56965 56994 570 57016 57103 57104 57126 5716 572 57214 5728 5730 5740 5742 5743 57452 57818 5834 5837 5973 60495 6185 622 6296 6319 6342 6382 6383 6385 6389 6390 6391 6392 6401 6403 64083 64116 64386 6440 6441 6470 6472 64772 64781 6480 6482 6487 6489 6514 6515 6517 6518 6519 6523 653308 6610 6614 6646 6652 6677 670 6713 6715 6716 6783 684 6888 6916 6996 7007 7086 7087 7097 7099 7108 7124 7157 7167 7355 7357 7358 7363 7364 7366 7367 7368 7369 7372 7378 7412 7903 79154 7923 79603 79623 79660 79679 79694 79837 79888 7991 79947 79966 80201 80351 8050 81031 811 8128 81544 81849 81890 821 8277 8309 83539 83548 83639 83666 8394 8396 8398 8399 84002 8434 84513 84620 847 84725 8473 84803 84812 8482 84899 8505 8526 85365 8605 8611 8630 8644 8658 8692 8693 8705 873 8733 874 8794 8809 8821 8850 8871 8877 8879 8897 8930 8972 9104 912 9197 9200 92483 9254 929 93210 933 9365 9370 9388 94005 9415 9420 945 9468 9469 9514 952 9536 9563 960 972 98 9896 9953 9955 9956	Homo sapiens (human)
DOID:0050835	generalized dystonia Aliases: familial dystonia fragments of torsion dystonia	ALDH5A1 ARSG CYP2U1 DBT DPEP1 ECHS1 GAD1 GCDH GLB1 GPI HIBCH MECR PDHA1 PLA2G6 SCP2 SLC39A8 SMUG1 SUCLA2	113612 1629 1800 1892 22901 23583 2571 26275 2639 2720 2821 51102 5160 6342 64116 7915 8398 8803	Homo sapiens (human)
DOID:0060563	Char syndrome	Tfap2b	21419	Mus musculus (house mouse)
DOID:0110808	hereditary spastic paraplegia 56 Aliases: SPG56 autosomal recessive spastic paraplegia 56 autosomal recessive spastic paraplegia type 56	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:0050850	diabetic encephalopathy	sgg	31248	Drosophila melanogaster (fruit fly)
DOID:2768	transient tic disorder	CD44 ENO2	2026 960	Homo sapiens (human)
DOID:0060380	orofaciodigital syndrome X Aliases: OFD10 orofaciodigital syndrome with fibular aplasia	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:0080122	Alpers-Huttenlocher syndrome Aliases: Alper's syndrome Alpers disease Alpers progressive infantile poliodystrophy Alpers syndrome Alpers' disease or gray-matter degeneration Diffuse Cerebral Sclerosis of Schilder mitochondrial DNA depletion syndrome 4a progressive sclerosing poliodystrophy	PRNP	5621	Homo sapiens (human)
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	Alg8 Ganab Lrp5 Ucp2	14376 16973 22228 381903	Mus musculus (house mouse)
DOID:574	peripheral nervous system disease	ACACA ACE ACER3 ACOT7 AGPAT2 AGXT AKR1A1 AKR1B1 ALOX12 ALOX15 AMACR APRT ARSA B3GAT1 CANX CAT CD14 CD1D CD55 CHIT1 CHSY1 CNTN1 COMT CPT1C CYP17A1 CYP19A1 CYP27A1 CYP2C8 CYP2U1 CYP3A4 CYP3A5 CYP7B1 DAG1 DEGS1 DGAT2 ECHS1 ENO2 FIG4 FOLR1 FUCA1 GAD1 GAS1 GCK GFRA1 GFRA2 GLA GPX1 HADH HADHA HADHB HK1 HPGDS HPSE HSD3B7 ICAM1 IDH1 IDH2 INPP5K LPIN1 LTC4S LYZ MAG MBL2 MGLL MTM1 MTMR2 NAGA NAMPT NCAM1 NCAN NGLY1 NT5E NTNG1 PDHA1 PGM3 PGP PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNP PNPLA2 PNPLA6 PRNP PRPS1 PSAP PTEN PTGIS RGN RPIA SARM1 SCP2 SDHA SGPL1 SLC2A4 SMC3 SMPD1 SPTLC1 SPTLC2 SPTLC3 ST3GAL4 SUCLA2 TKT TPI1 TYMP	10135 10327 10555 10558 10855 10908 1118 11332 11343 113612 126129 1272 1312 1463 1558 1576 1577 1586 1588 1593 1604 1605 1636 189 1890 1892 2026 22854 22856 22934 23098 231 23175 2348 23600 239 246 2517 2571 2619 2645 2674 2675 27087 2717 27306 283871 2876 3030 3032 3033 3098 31 3383 3417 3418 353 4056 4069 4099 410 4153 4534 4668 4684 4860 4907 5160 51763 5238 5290 5291 5293 5294 5373 55304 55331 55768 5621 5631 5660 57104 5728 5740 6342 6389 6484 6517 6609 7086 7167 80270 821 84649 847 8560 8803 8879 8898 9104 912 9126 929 9420 9517 9896	Homo sapiens (human)

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