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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2226 - 2250** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:2683	adenofibroma	PIK3CA	5290	Homo sapiens (human)
DOID:543	dystonia Aliases: dystonic disease	ACER3 ACHE ACOX1 ACSF3 ADH1C AGA ALDH5A1 ALDH6A1 ARSA ARSG ATP6V1A B3GALNT2 B4GALNT1 COMT CYB5R3 CYP27A1 CYP2U1 DBT DEGS1 DHDDS DLAT DLD DPEP1 ECHS1 GAD1 GBA1 GCDH GLB1 GM2A GPI GPX1 HEXD HIBCH HPRT1 INPP5K L2HGDH LMAN2L MAN1B1 MBOAT7 MDH2 MECR MMUT MYORG NDST1 OGA PAFAH1B1 PCCA PCCB PDHA1 PDHX PGAP1 PIGC PIGP PIGQ PIK3CA PLA2G6 PSAP PTEN RENBP SCP2 SDHA SDHD SLC39A8 SMUG1 ST3GAL3 ST3GAL5 SUCLA2 SYNJ1 TECR TPI1 TUSC3	10724 11253 113612 126 1312 148789 1593 1629 1727 1737 1738 175 1800 1892 197322 22901 23583 2571 2583 26275 2629 2639 2720 2760 2821 284004 2876 3251 3340 410 4191 43 4329 4594 5048 5095 5096 51 51102 51227 5160 51763 523 5279 5290 55331 5660 5728 57462 5973 6342 6389 6392 64116 6487 7167 79143 7915 7991 79944 79947 80055 8050 81562 8398 8560 8803 8867 8869 9091 9524	Homo sapiens (human)
DOID:0070460	hereditary spastic paraplegia 90B Aliases: SPG90B autosomal recessive spastic paraplegia 90B	SPTSSA	171546	Homo sapiens (human)
DOID:12680	pseudobulbar palsy Aliases: pseudobulbar paralysis	B4GALNT1 CYP27A1	1593 2583	Homo sapiens (human)
DOID:3302	chordoma Aliases: notochordoma	ACAN CBR1 CSPG4 FCGR3B IDH1 LGALS9 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SIGLEC7	142 1464 176 2215 27036 3417 3965 5290 5291 5293 5294 5728 873	Homo sapiens (human)
DOID:2485	phosphorus metabolism disease Aliases: Phosphorus disorder disorder of phosphorus metabolism phosphorus metabolism disorder	ACADVL ACE ADH1A AGXT ALG12 ALPL ALPP ATRNL1 CD44 COMT CYP24A1 CYP27B1 CYP2B6 CYP2R1 DLST ENPP1 FH GALNT3 GRHPR HADHA HADHB HOGA1 HSD11B2 IDS KL MDH2 OCRL PIGT PIK3C2A PTGS2 SDHA SDHB SDHC SDHD SLC3A1 SLC5A1 SMUG1 STS	112817 120227 124 1312 1555 1591 1594 1636 1743 189 2271 23583 249 250 2591 26033 3030 3032 3291 3423 37 412 4191 4952 51604 5167 5286 5743 6389 6390 6391 6392 6519 6523 79087 9365 9380 960	Homo sapiens (human)
DOID:0110134	Bardet-Biedl syndrome 12 Aliases: BBS12	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0060135	apraxia	ATP6AP2 COG4 EPM2A GCK GPAA1 PRNP	10159 25839 2645 5621 7957 8733	Homo sapiens (human)
DOID:0110723	neuronal ceroid lipofuscinosis 8 Aliases: CLN8	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP	1203 22901 2571 2572 3956 47 5310 5538 5660 7957 9374	Homo sapiens (human)
DOID:0080678	mucolipidosis III gamma	GNPTG	84572	Homo sapiens (human)
DOID:14247	chronic purulent otitis media Aliases: chronic suppurative otitis media	CAT	847	Homo sapiens (human)
DOID:3074	giant cell glioblastoma Aliases: Monstrocellular sarcoma	ABO ACACA ACACB ACAT1 ACE ACOT7 ACSL5 ACSS2 AGXT AKR1B10 AKR1B1 ALDH1A3 ALDH3A1 ALDH7A1 ALG2 ALOX5 ALPI ALPP ANXA5 ANXA7 APRT ARF4 ARSA ART1 ASAH1 ATP6AP2 ATP6V0A2 B3GAT1 B3GNT5 B4GALNT1 BAAT BCAN BDH2 CALR CANX CAT CBR1 CD109 CD14 CD22 CD248 CD33 CD38 CD44 CD74 CD93 CDH13 CDS1 CEACAM5 CEACAM7 CERS2 CH25H CHAT CHI3L1 CHPT1 CHST15 CHSY1 CLEC18B CLEC5A CMAS CNTN2 CNTN3 CPT1A CPT1C CS CSPG4 CYB5R2 CYP17A1 CYP19A1 CYP1B1 CYP27A1 CYP27B1 CYP2B6 CYP2E1 CYP46A1 DAG1 DBT DCN DEGS1 DGKA DGKI DGKZ DHCR24 DHDDS DLD EBP ECHS1 EFNA2 ELOVL2 ENO1 ENO2 ENPP1 ENPP2 EXTL3 FADS2 FASN FBP1 FDFT1 FDPS FMOD FOLR1 FUT4 G6PC1 GALNT14 GALNT7 GAPDH GAS1 GFPT1 GLB1 GLO1 GLUL GML GOLPH3 GPC1 GPD1 GPI GPNMB GPX3 HACD1 HK1 HK2 HMMR HPGDS HPSE HSD3B7 HSPG2 ICAM1 IDH1 IDH2 IDUA IL18R1 INPP5B INPP5K INPPL1 KL KLRC3 KLRK1 L1CAM L2HGDH LDHA LGALS1 LGALS3 LGALS8 LGALS9 LSS MAN2A1 MCAT ME1 ME2 MGAT1 MGAT5 MICA MMP25 MMUT MPG MRC1 MSLN MTAP NAMPT NANS NCAM1 NDST1 NEIL3 NEU1 NEU3 NEU4 NT5E OCRL OGA OLR1 OPCML PAFAH1B1 PARG PARP1 PARP3 PCYT1A PDIA3 PFKFB2 PFKFB3 PFKFB4 PFKM PGAM1 PGK1 PI4K2A PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PKD1 PKD2 PKM PLA2G4A PLAUR PLCB1 PLCG1 PLD2 PLOD3 PLPP1 PLPP3 PNP POMGNT1 PPT1 PRKAA2 PRNP PRPS1 PSAP PTEN PTGDS PTGS1 PTGS2 RECK RTN4R SDC1 SDC2 SDHA SELP SGMS1 SIGLEC9 SIRT2 SIRT6 SLC2A3 SLC35F1 SLC37A4 SLC3A1 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST6GAL1 ST8SIA1 ST8SIA4 STS SUCLG1 SULF1 SULF2 SYNJ1 SYNJ2 THEM4 TIGAR TKT TKTL1 TM7SF2 TNFRSF10C TNKS TPI1 TREH TUSC3 TYMP UGCG UGDH UGP2 ULBP1 UMOD UNG VCAM1 VNN2 VTCN1	10039 100507436 1012 10135 10159 10232 1040 10457 1048 10682 10724 10825 10855 10858 1087 1103 1116 11181 11332 117145 126129 129807 135228 1374 142 1431 1464 1545 1555 1571 1586 1588 1593 1594 1605 1606 1629 1634 1636 1718 1738 189 1890 1892 1943 2023 2026 2137 218 2194 220 2203 2222 2224 222553 22856 22914 22918 22933 231 23213 23236 2331 2348 23545 23583 23601 240 248 250 2526 2538 2542 2583 259230 2597 2619 2673 27087 27180 2720 27306 27349 2739 2752 2765 28 2817 2819 2821 2878 2923 29956 308 3098 3099 31 310 3161 32 3339 3340 3383 3417 3418 3425 353 3633 3636 378 38 3823 3897 3939 3956 3958 3964 3965 4047 410 412 4124 417 4199 4200 4245 4249 427 4350 4360 4507 4594 4684 4758 4860 4907 4952 497190 4973 4978 501 5048 5067 5130 51363 51548 5167 5168 51700 51703 51763 51809 5208 5209 5210 5213 5223 5230 5287 5289 5290 5291 5293 5294 5305 5310 5311 5315 5321 5329 5335 5338 54187 54898 55247 55361 5538 5552 55624 5563 55902 55907 55959 5621 5631 5660 56848 56898 56994 570 57016 57103 57124 5728 5730 5742 5743 6382 63827 6383 6389 6403 64083 64386 6480 6489 65078 6515 6519 6646 6900 7086 7108 7167 7357 7358 7360 7369 7374 7412 7903 79623 79679 7991 79944 79947 80270 80329 811 821 8277 84002 8434 847 8505 8525 85365 8560 8611 8613 8658 873 8794 8802 8809 8867 8871 8875 8877 8985 9023 9162 9200 929 933 9365 9415 945 952 960 972	Homo sapiens (human)
DOID:0060652	familial erythrocytosis 1 Aliases: ECYT1 autosomal dominant benign erythrocytosis primary familial and congenital polycythemia	CD177 PKLR	5313 57126	Homo sapiens (human)
DOID:0110520	autosomal recessive nonsyndromic deafness 7 Aliases: DFNB11 DFNB7 autosomal recessive deafness 7	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:9540	vascular skin disease	AGA FUCA1 NEU1 PLAUR PTEN TM7SF2	175 2517 4758 5329 5728 7108	Homo sapiens (human)
DOID:0060488	Pitt-Hopkins syndrome	PTEN	5728	Homo sapiens (human)
DOID:9499	disseminated eosinophilic collagen disease	ETNK1	55500	Homo sapiens (human)
DOID:0110592	autosomal dominant nonsyndromic deafness 70 Aliases: DFNA70 autosomal dominant deafness 70	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:13372	alpha 1-antitrypsin deficiency Aliases: AAT deficiency	ACADVL ACE CAT CYP21A2 HADHA MAN1B1 OTOA SERPINA12 UGGT1	11253 145264 146183 1589 1636 3030 37 56886 847	Homo sapiens (human)
DOID:0050256	angiostrongyliasis	LGALS2	3957	Homo sapiens (human)
DOID:0110497	autosomal recessive nonsyndromic deafness 39 Aliases: DFNB39 autosomal recessive deafness 39	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:2747	glycogen storage disease Aliases: glycogenosis	ABO ACADM AGL AGXT AKR1B1 ALDOA ALG9 APRT CYP4F3 EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 G6PD GAA GALE GALK1 GALT GBE1 GLA GPI GYG1 GYG2 GYS2 HADHA HK1 HPGDS ICAM1 IDS IGF2R LDHA LGALS1 LPL MGAM MGAT1 MPDU1 MTM1 NDUFAB1 PFKL PFKM PFKP PGAM2 PGK1 PGM1 PHKA1 PHKA2 PHKG2 PRKAG2 PYGL PYGM SI SLC2A2 SLC35A2 SLC37A4 SLC3A1 TKT UGP2 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT8 VCAM1	178 189 1962 2027 2203 226 231 2538 2539 2542 2548 2582 2584 2592 2632 2717 27306 28 2821 2992 2998 3030 3098 3383 34 3423 3482 353 3939 3956 4023 4051 4245 4534 4706 51422 5211 5213 5214 5224 5230 5236 5255 5256 5261 54575 54576 54577 54578 54657 54658 57818 5836 5837 6476 6514 6519 7086 7355 7360 7368 7412 7957 79796 8908 8972 92579 9526	Homo sapiens (human)
DOID:0110567	autosomal dominant nonsyndromic deafness 41 Aliases: DFNA41 autosomal dominant deafness 41	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:0111261	fumarase deficiency Aliases: FMRD fumaric aciduria	ACO2 FH	2271 50	Homo sapiens (human)
DOID:11265	trachoma Aliases: active stage trachoma trachoma dubium	IL18R1 TNF	7124 8809	Homo sapiens (human)

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