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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 **2626 - 2650** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0060452	posterior amorphous corneal dystrophy Aliases: PACD chromosome 12q21.33 deletion syndrome	DCN	1634	Homo sapiens (human)
DOID:0110572	autosomal dominant nonsyndromic deafness 49 Aliases: DFNA49 autosomal dominant deafness 49	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:219	colon cancer	ACACA ACAN ACAT1 ACE ACHE ACLY ACSL1 ACSL4 ACSS2 ADH1B ADH1C AFMID AGL AKR1B10 AKR1B1 AKR1C1 AKR1C3 AKT1 ALDH1A3 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALG1 ALOX12B ALOX15 ALOX5 ALPP AMACR ANXA5 APRT ARSA ASAH1 ATRNL1 B3GALT5 B3GNT7 B3GNT8 B3GNTL1 B4GALNT3 BAAT BAD C1GALT1 C1GALT1C1 CA4 CACNA2D1 CALR CAT CBR1 CD109 CD248 CD44 CD55 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CERS4 CERS5 CHAT CHGA CHI3L1 CHKA CHPT1 CHST4 CLEC3A COMT CSGALNACT1 CTBS CYB5R1 CYB5R3 CYP17A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27B1 CYP2E1 CYP2R1 CYP3A4 CYP4F3 CYP7A1 CYP7B1 DAG1 DCN DGKB DGKE DGKZ DHCR24 DHCR7 DHDDS DLD DPEP1 EBP ELOVL5 ENO1 ENPP3 ENPP7 FADS1 FADS2 FASN FBP1 FDPS FH FOLR1 FUT1 FUT4 FUT6 FUT7 G6PD GALNT12 GALNT4 GALNT6 GAPDH GCNT2 GCNT3 GLB1 GLO1 GMDS GOLPH3 GPC1 GPI GPLD1 GPX1 GPX2 GPX3 GSK3B GUSB HAS3 HEXB HK2 HMGCS1 HMGCS2 HMMR HPGDS HPRT1 HPSE HS3ST2 HSD11B2 HSD17B4 HSD17B7 HSPG2 HYAL2 ICAM1 IDH1 IDUA IGF2R IL1R1 IMPA1 INPP4B INPP5D INPPL1 ISYNA1 KL KLRK1 L1CAM LAYN LDHA LDHB LGALS12 LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LIPC LPIN1 LPL LYPD5 MACROD2 MAPK14 MBD4 MBL2 ME1 MGAT5 MGLL MICA MINPP1 MMP25 MRC1 MTM1 MTMR3 MUTYH NAMPT NEU3 NTHL1 NTNG1 OGA OGG1 OLR1 PARP1 PARP4 PCYT1A PCYT1B PFKFB3 PGK1 PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1A PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G3 PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCG1 PLCH1 PLD2 PLD4 PLEKHA8 PLPP3 PNP PNPLA2 POGLUT1 PRKAA1 PRKAA2 PSMD10 PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 RECK REG1B RENBP RGN RPE RPIA SCD SDC1 SDC2 SDC4 SDHA SDHB SDHC SELE SELL SGMS2 SGPL1 SHMT1 SHMT2 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC26A2 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35A2 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST6GAL1 ST6GALNAC1 STS STT3A SULF1 SULT1E1 SYNJ2 TDG TIGAR TKT TKTL1 TKTL2 TM7SF2 TMED3 TMED9 TMTC1 TNFRSF10C TNKS TUSC3 TYMP UGT1A1 UGT1A6 UGT1A7 UGT1A9 UGT2B17 ULBP2 UMPS UNG UPP1 VCAM1 VCAN VNN1	100507436 1012 10135 10143 10164 10317 1048 10682 10724 10825 10855 1087 1103 1113 1116 1119 11226 11343 120227 122618 125 125061 126 128869 1312 135228 140733 142 143 1432 143903 1462 146712 1486 151056 1543 1544 1545 1571 1576 1581 1586 1591 1594 1604 1605 1607 1634 1636 1645 166929 1717 1718 1727 1738 176 178 1800 1836 1890 2023 207 217 218 2180 2182 219 2194 220 2203 2224 2271 22854 22914 22933 22934 23007 231 23175 23213 23236 23423 2348 23583 23600 23659 240 242 246 250 2523 2526 2528 2529 2539 2597 26033 26279 26503 2651 27036 2720 27306 2739 2762 2817 2821 2822 283358 284348 2876 2877 2878 29071 2932 2990 3038 3074 308 3099 31 3157 3158 3161 3251 3291 3295 3339 3383 339221 3417 3425 3482 353 3554 3612 3635 3636 3703 374907 38 3897 3939 3945 3956 3958 3960 3964 3965 3990 3992 4023 4051 410 412 4153 4199 4249 427 43 4360 4534 4595 4680 47 4860 4913 4968 4973 501 50487 5130 51477 51478 51548 5169 51706 5209 5230 5289 5290 5291 5293 5294 5315 5319 5320 5321 5329 5335 5338 54577 54578 54600 54658 54732 5552 5562 5563 55790 55808 55902 56052 56848 56913 56983 56994 570 57016 57103 57104 57124 5716 572 57214 5728 5730 5740 5742 5743 5968 5973 60481 6120 6319 6382 6383 6385 6389 6390 6391 6401 6402 64083 64386 6470 6472 6480 6514 6515 6517 6518 6609 6646 6783 6996 7086 7108 7355 7367 7372 7374 7378 7412 762 781 7941 79603 79695 7991 79947 80328 811 8277 83857 8394 8398 8399 84076 8434 847 84725 8525 8526 85329 8613 8644 8658 8692 8693 873 8794 8821 8871 8876 8877 8879 8897 8930 91012 9104 9245 93010 9365 9415 9420 9468 9536 9562 960 9956	Homo sapiens (human)
DOID:9562	primary ciliary dyskinesia Aliases: ciliary motility disorder immotile ciliary syndrome	AKR1C4 CEL ICAM1 INPP5E MBL2 NCAM1 NT5E NTM PARP9 PNPLA2 SCD5 SDC1 SLC27A5	1056 10998 1109 3383 4153 4684 4907 50863 56623 57104 6382 79966 83666	Homo sapiens (human)
DOID:0110561	autosomal dominant nonsyndromic deafness 31 Aliases: DFNA31 autosomal dominant deafness 31	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:0090005	Schwartz-Jampel syndrome 1 Aliases: Aberfeld syndrome Burton skeletal dysplasia Burton syndrome Catel-Hempel syndrome Catel-Hempel type dysostosis enchondralis metaepiphysaria Schwartz-Jampel syndrome type 1 Schwartz-Jampel-Aberfeld syndrome myotonic chondrodystrophy myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies osteochondromuscular dystrophy	ACHE AKR1B1 CHST3 CYP2B6 CYP2C19 CYP2C9 HSPG2 MICA SGSH	100507436 1555 1557 1559 231 3339 43 6448 9469	Homo sapiens (human)
DOID:1627	intraductal papilloma Aliases: ductal papilloma	CD44 PIK3CA	5290 960	Homo sapiens (human)
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	HS6ST2	90161	Homo sapiens (human)
DOID:0060367	Parkinson's disease 1 Aliases: autosomal dominant Parkinson disease 1 autosomal dominant Parkinson's disease 1	SYNJ1	8867	Homo sapiens (human)
DOID:4552	large cell carcinoma	CD44 CEACAM5 CYP1A1 GLDC ME1 SLC2A3	1048 1543 2731 4199 6515 960	Homo sapiens (human)
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	ACAN ALPL ATP6V0A2 B3GALT4 B3GALT6 B4GALT7 BAAT CD38 CD44 CHST14 COL9A2 CYP21A2 CYP27B1 CYP2R1 DCN DSE ENPP1 FAM20B MTAP OCRL PAPSS2 PNPLA2 PTGS2 SMPD3 XYLT1	11285 113189 120227 126792 1298 1589 1594 1634 176 23545 249 29940 4507 4952 5167 55512 570 57104 5743 64131 8705 9060 952 960 9917	Homo sapiens (human)
DOID:12119	hemosiderosis Aliases: haemosiderosis	ACSM3	6296	Homo sapiens (human)
DOID:5604	adult acute lymphocytic leukemia Aliases: adult ALL adult acute lymphoid Leukemia	ABO ACSS2 AKR1B1 AKR1C3 ALPI ALPP ANXA5 APRT B3GAT1 CAT CD22 CD33 CD38 CD44 CD48 CD55 CD72 CEL CERS6 CHI3L1 CNTFR CYP1A1 CYP2B6 CYP2E1 CYP3A4 CYP3A5 CYP4F3 ENO2 EXT1 FADS1 FH FUT4 G6PD GAD1 GGT1 HK1 HPGDS HPRT1 ICAM1 IDH1 IDH2 IL18R1 IL1RL1 LIPA LSS MBL2 MSLN MTAP NAAA NCAM1 NT5E PARP9 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PLA2G15 PRKAA2 PRPS1 PTEN SELE SFTPD SHMT1 SLC27A5 SOAT1 SPHK2 UMOD UNG	10232 1056 10998 1116 1271 1543 1555 1571 1576 1577 1604 2026 2131 2271 231 23659 248 250 2526 253782 2539 2571 2678 27087 27163 27306 28 308 3098 3251 3383 3417 3418 353 3988 3992 4047 4051 4153 4507 4684 4907 5287 5290 5291 5293 5294 5305 5563 55902 5631 56848 5728 6401 6441 6470 6646 7369 7374 83666 847 8644 8809 9173 933 945 952 960 962 971	Homo sapiens (human)
DOID:13911	achromatopsia Aliases: ACHM Monochromatism	ACO2 CA4 CACNA2D4 ELOVL4 G6PD HS6ST1 MBD4 NYX PCYT1A SDHC STS	2539 412 50 5130 60506 6391 6785 762 8930 93589 9394	Homo sapiens (human)
DOID:0050459	hyperphosphatemia	ADH1B CYP11B2 CYP24A1 CYP27B1 GALNT3 KL PGAP2 PIK3C2A SHMT1 SMPD3	125 1585 1591 1594 2591 27315 5286 55512 6470 9365	Homo sapiens (human)
DOID:0060135	apraxia	ATP6AP2 COG4 EPM2A GCK GPAA1 PRNP	10159 25839 2645 5621 7957 8733	Homo sapiens (human)
DOID:2006	preretinal fibrosis Aliases: Macular puckering of retina Macular retinal puckering cellophane maculopathy	CAT GFRA1 GFRA2 LGALS1 PIK3CA PIK3CB PIK3CD PIK3CG RPE SIGLEC7	2674 2675 27036 3956 5290 5291 5293 5294 6120 847	Homo sapiens (human)
DOID:12554	hemolytic-uremic syndrome Aliases: haemolytic-uraemic syndrome hemolytic uremic syndrome	A4GALT ABO BAAT C1GALT1C1 CAT CD22 CLEC1B CYP21A2 DGKE G6PD GPI GRHPR IL1RL1 LIPG MASP1 MBL2 PIGA PLA2G7 SLC35G1 ST8SIA2 TM7SF2	1589 159371 2539 28 2821 29071 4153 51266 5277 53947 5648 570 7108 7941 8128 847 8526 9173 933 9380 9388	Homo sapiens (human)
DOID:13636	Fanconi anemia Aliases: Fanconi anaemia Fanconi pancytopenia Fanconi panmyelopathy Fanconi's anaemia Fanconi's anemia	ADH5 ALDH2 ANXA7 CAT CD33 CD38 CD44 CD48 CTNS CYP11A1 CYP2B6 ELOVL6 ENO1 FUT1 GCK HPGDS HPRT1 ICAM1 LPL ME1 MRC1 NCAM1 NEIL1 NEIL3 NTHL1 OCRL PARP1 PFKFB3 PRKAA2 PTEN SOAT1 TIGAR TNF VCAM1	128 142 1497 1555 1583 2023 217 2523 2645 27306 310 3251 3383 4023 4199 4360 4684 4913 4952 5209 55247 5563 57103 5728 6646 7124 7412 79071 79661 847 945 952 960 962	Homo sapiens (human)
DOID:0110242	cataract 13 with adult i phenotype Aliases: CTRCT13	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:3179	inverted papilloma Aliases: Inverted papilloma, squamous cell	PIK3CA PIK3CD PIK3CG PTEN	5290 5293 5294 5728	Homo sapiens (human)
DOID:0080212	polycystic kidney disease 4	ACE CD44 CYP4A22 CYP7B1 DOLK EOGT HJV INPP5E MPI PIK3CA PKD1 PKD2 PNPLA6 UMOD	10908 148738 1636 22845 284541 285203 4351 5290 5310 5311 56623 7369 9420 960	Homo sapiens (human)
DOID:2050	acute maxillary sinusitis Aliases: acute antritis	NT5E	4907	Homo sapiens (human)
DOID:0050539	Charcot-Marie-Tooth disease type 2 Aliases: hereditary motor and sensory neuropathy Guadalajara neuronal type hereditary motor and sensory neuropathy Okinawa type hereditary motor and sensory neuropathy type 2	ACE AMACR ARSA CANX CD44 DGAT2 FIG4 GBA1 HADHB HK1 LCAT MAG MTM1 MTMR2 PGK1 PGM1 PRNP PRPS1 SIGLEC7 SPTLC1 SPTLC2	10558 1636 23600 2629 27036 3032 3098 3931 4099 410 4534 5230 5236 5621 5631 821 84649 8898 9517 960 9896	Homo sapiens (human)
DOID:0110200	Charcot-Marie-Tooth disease dominant intermediate D Aliases: CMTDID Charcot-Marie-Tooth neuropathy dominant intermediate D DI-CMTD autosomal dominant intermediate Charcot-Marie-Tooth disease type D	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)

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