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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 **676 - 700** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0060810	syndromic X-linked intellectual disability type 10 Aliases: HSD10 deficiency, atypical type HSD10 disease, atypical type MRXS10 X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome mental retardation, X-linked syndromic 10	ACADSB ACAT2 ALG13 ARSA B3GALNT2 CACNA2D2 DHCR7 GM2A LMAN2L MAN1B1 MBOAT7 MECR MYORG NDST1 NGLY1 PGAP1 PIGC PLA2G6 PRNP PSAP SMUG1 ST3GAL3 TECR TUSC3	11253 148789 1717 23583 2760 3340 36 39 410 51102 5279 55768 5621 5660 57462 6487 79143 79868 7991 80055 81562 8398 9254 9524	Homo sapiens (human)
DOID:10907	microcephaly Aliases: Microcephalus microencephaly	ACADSB ACE ACSF3 AGA ALDH3A2 ALDH6A1 ALG11 ALG13 ALG1 ALG3 ALG9 ATP6V0A2 ATP6V1A B3GALNT2 B3GLCT B4GAT1 CAT CH25H CHKA CHKB CNTN2 COG4 COG5 COG6 COG7 COG8 COMT CPT2 CRPPA CYB5R3 DAG1 DGCR2 DHCR24 DHCR7 DHDDS DLAT DLD DPAGT1 DPM1 ETNK1 ETNK2 EXT1 EXT2 FAR1 FH FIG4 FKRP FKTN FUT8 G6PC3 GAD1 GAS1 GBA1 GLYCTK GMPPA GMPPB GNPAT HMGCL HSPG2 ICAM1 INPP5K KDSR L1CAM LARGE1 LDHD LFNG LMAN2L LSS LTC4S MAN1B1 MASP1 MBOAT7 MGAT2 MPDU1 MSMO1 MYORG NANS NDST1 NGLY1 NSDHL NTNG1 OGT PAFAH1B1 PARP11 PDHA1 PDHX PGAP1 PGD PIGC PIGH PIGP PIGQ PIGS PIGY PIK3CB PISD PMM2 POFUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PTEN RFT1 RXYLT1 SC5D SDHB SDHD SELENOI SGPL1 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SMC3 SMPD3 SMPD4 ST3GAL3 ST3GAL5 STT3A STT3B SUCLA2 SUMF1 SYNJ1 TECR TUSC3 XYLT1	10195 10329 10466 10559 10585 11041 1119 1120 11253 1312 132158 1376 145173 148789 1605 1636 1717 1718 1727 1737 1738 175 1798 197257 197322 201595 2131 2132 2218 224 2271 22854 23443 23509 23545 23761 2530 2531 2571 25839 2619 2629 285362 29925 29926 29954 3155 3339 3340 3383 36 3703 3897 3955 4047 4056 4247 4329 440138 5048 50814 51227 5160 51763 5226 523 5279 5283 5291 5373 54187 55224 55343 55500 55512 55624 55627 55768 56052 5648 57097 5728 57462 57511 6307 6309 6390 6392 64131 6487 6900 729920 7355 79143 79147 79796 79868 7991 79947 80055 8050 81562 84188 84197 84342 8443 847 8473 84892 84992 85465 8803 8813 8867 8869 8879 9023 9091 9126 91869 91949 9215 92579 94005 9524 9526 9896 9993	Homo sapiens (human)
DOID:0060336	3-methylglutaconic aciduria	ACADSB AGK DHCR7 ECHS1	1717 1892 36 55750	Homo sapiens (human)
DOID:14692	Smith-Lemli-Opitz syndrome Aliases: Rutledge lethal multiple congenital anomaly syndrome Smith-Opitz-Inborn syndrome	ACADSB DHCR7 FDFT1 SC5D STS	1717 2222 36 412 6309	Homo sapiens (human)
DOID:1142	alternating exotropia	ACADSB DPAGT1 HADHA NGLY1 PIGQ PRPS1 SLC17A5 SLC35A2	1798 26503 3030 36 55768 5631 7355 9091	Homo sapiens (human)
DOID:1143	exotropia Aliases: Divergent Strabismus Divergent concomitant strabismus	ACADSB DPAGT1 HADHA NGLY1 PIGQ PRPS1 SLC17A5 SLC35A2	1798 26503 3030 36 55768 5631 7355 9091	Homo sapiens (human)
DOID:11853	monocular exotropia	ACADSB DPAGT1 HADHA NGLY1 PIGQ PRPS1 SLC17A5 SLC35A2	1798 26503 3030 36 55768 5631 7355 9091	Homo sapiens (human)
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	ACADVL ACE ACOX1 ACSL4 ACSM3 AGRN AKR1A1 ALG11 ALG12 ALOX12B ARSB ARSG ASAH1 B3GALNT2 B3GLCT CA4 CACNA2D2 CAT CERS3 CHAT CHST14 CHST3 COG1 COG4 COG5 COG7 COL9A2 COLEC10 COLEC11 CTSA CYP7B1 DHCR7 DOLK EBP ECHS1 ENPP1 FIG4 FKTN FUCA1 G6PC3 GAA GALC GALNS GAS1 GBA1 GBA2 GCK GLA GLB1 GMPPA GMPPB GNS GPC3 GUSB HEXA HGSNAT HPGDS HS6ST1 HSD17B4 IDH2 IDH3A IDH3B IDS IDUA KDSR L2HGDH LGALS1 LRTOMT MAN2B1 MANBA MASP1 MBL2 MGAT2 MOGS MTAP NAGA NAGLU NEU1 NPL NT5E NTNG1 OTOA OTOG PCYT1A PDHA1 PGAP2 PGM3 PIGA PIGL PIGO PIGV PIK3C2A PIK3CA PLA2G6 PLCB4 PLOD3 PNPLA2 PNPLA6 POMGNT1 POMT1 PRPS1 PTDSS1 PTEN PTGDS PTGS2 RFT1 SC5D SCD SDHA SDHB SDHC SDHD SGPL1 SGSH SLC26A2 SLC33A1 SLC35A2 SLC35G1 SLC39A8 SMC3 SPTLC1 ST3GAL5 SUCLA2 SUMF1 TALDO1 TECTA TMTC2 TNF UGT1A1 XYLT2	10327 10466 10558 10584 10585 10682 10908 1103 113189 1298 138050 145173 146183 148789 159371 160335 1636 1717 1836 1892 204219 2182 220074 2218 22845 22854 22901 242 2517 2531 2548 2581 25839 2588 2619 2629 2645 2717 2719 2720 27306 27315 2799 285362 2990 29925 29926 3073 3295 340990 3418 3419 3420 3423 3425 37 375790 3956 411 4125 4126 4153 4247 427 440138 4507 4668 4669 4758 4907 51 5130 5160 5167 5238 5277 5286 5290 5332 54658 5476 55624 55650 5631 5648 57104 5728 5730 5743 57704 6296 6309 6319 6389 6390 6391 6392 64116 64132 6448 6888 7007 7124 7355 762 7841 78989 79087 79944 80896 8398 847 84720 8803 8869 8879 8985 9126 91869 91949 9197 9254 92579 9382 9394 9420 9469 9487 9791 9896	Homo sapiens (human)
DOID:12678	hypercalcemia	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: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:12679	nephrocalcinosis	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:0110429	dilated cardiomyopathy 1H Aliases: dilated cardiomyopathy with conduction defect	ACADVL ACE ADRB3 BDH1 CHKB CPT2 CYP11B2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4 TNF	100507436 10135 1120 1376 148738 155 1585 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 7124 79147 7941 81031 9200	Homo sapiens (human)
DOID:0050820	atrioventricular block Aliases: AV block	ACADVL ACE AGXT APRT ARSD CACNA2D1 CALR GLA MTM1 PKD2 SMUG1	1636 189 23583 2717 353 37 414 4534 5311 781 811	Homo sapiens (human)
DOID:118	pericardial effusion	ACADVL ACE ALG9 CAT GBA1 PMM2 PTGS2 SMUG1	1636 23583 2629 37 5373 5743 79796 847	Homo sapiens (human)
DOID:11482	hemopericardium Aliases: Haemopericardium	ACADVL ACE ALG9 CAT GBA1 PMM2 PTGS2 SMUG1	1636 23583 2629 37 5373 5743 79796 847	Homo sapiens (human)
DOID:0110443	dilated cardiomyopathy 1B	ACADVL ACE BDH1 CHKB CNTN3 CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5067 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:0110442	dilated cardiomyopathy 1Q Aliases: CMD1Q	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:0110428	dilated cardiomyopathy 1AA Aliases: CMD1AA dilated cardiomyopathy 1AA with or without left ventricular noncompaction	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:0110436	dilated cardiomyopathy 1L Aliases: CMD1L	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:0110437	dilated cardiomyopathy 1K Aliases: CMD1K	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:0110447	dilated cardiomyopathy 1DD Aliases: CMD1DD	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:0110431	dilated cardiomyopathy 1I Aliases: CMD1I	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:0110452	dilated cardiomyopathy 1T Aliases: CMD1T	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:0110455	dilated cardiomyopathy 1U Aliases: CMD1U	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:0110441	dilated cardiomyopathy 2B Aliases: CMD2B	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)

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