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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 **3726 - 3750** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
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)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110110	atrial heart septal defect 5 Aliases: ASD5 atrial septal defect 5	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110635	muscular dystrophy-dystroglycanopathy type B5 Aliases: FKRP-related congenital muscular dystrophy MDC1C MDDGB5 congenital muscular dystrophy 1C muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 DAG1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 1605 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080633	developmental cardiac valvular defect	PLD1 PLD2	5337 5338	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111158	SADDAN Aliases: SADDAN dysplasia severe achondroplasia with developmental delay and acanthosis nigricans	ACAN CYP2C19 DCN PLCG1	1557 1634 176 5335	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0081210	autosomal recessive intellectual developmental disorder 46	NDST1	3340	Homo sapiens (human)	Alliance of Genome Resources
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)	DisGeNET
DOID:0110249	cataract 11 multiple types Aliases: CTRCT11	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)	DisGeNET
DOID:9383	iridocyclitis Aliases: primary iridocyclitis	ICAM1	3383	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050536	obsolete SC phocomelia syndrome Aliases: Hypomelia Hypotrichosis Facial hemangioma syndrome SC PSEUDOTHALIDOMIDE SYNDROME	MELTF SMC3	4241 9126	Homo sapiens (human)	DisGeNET
DOID:1227	neutropenia	ABO ACE AGA ALDH2 B3GAT1 CD177 CD33 CEL CHPT1 COG4 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP39A1 CYP3A5 DHDDS FCGR3B FH G6PC1 G6PC3 HMMR IDUA LPIN2 MBL2 MMUT NAMPT NCAM1 PARP1 PARP9 PCCA PCCB PGM3 PIK3CA PIK3CB PIK3CD PIK3CG SELP SLC17A5 SLC27A5 SLC35A1 SLC35A2 SLC37A4 TMTC3 TNF TNFRSF10C UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS	10135 10559 1056 10998 142 1545 1555 1557 1558 1559 1577 160418 1636 175 217 2215 2271 2538 2542 25839 26503 27087 28 3161 3425 4153 4594 4684 5095 5096 51302 5238 5290 5291 5293 5294 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 56994 57126 6403 7124 7355 7372 79947 83666 8794 92579 945 9663	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0070516	Mitchell syndrome	ACOX1	51	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050904	salivary gland carcinoma	PTGS1	5742	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081267	graft-versus-host disease Aliases: GvHD graft versus host disease	ABO ADIPOQ SELL TP53	28 6402 7157 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:2986	IgA glomerulonephritis Aliases: Berger's IgA or IgG nephropathy Focal Glomerulonephritis IgA nephropathy primary IgA nephropathy segmental glomerulonephritis	ABO ACACA ACE ACSM3 ACYP2 ALOX5 B4GALT1 B4GALT7 C1GALT1 C1GALT1C1 CD14 CD44 CD55 CHGA CHPF CLEC14A CYP11B2 CYP19A1 CYP21A2 DCN EPHX2 FCGR3B GAPDH HPSE HSPG2 ICAM1 KL LMAN1 MAN2B1 MBL2 MPDU1 MPG MTM1 MTMR3 NEU1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G7 PLA2R1 PLB1 PTEN QTRT1 SACM1L SELE SELL SLC17A5 SLC3A1 ST6GAL1 ST6GALNAC2 STT3A TLR1 TNF UMOD VCAM1 VTCN1	10610 10855 1113 11285 142 151056 1585 1588 1589 1604 161198 1634 1636 2053 2215 22908 22925 240 2597 26503 2683 28 29071 31 3339 3383 3703 3998 4125 4153 4350 4534 4758 5290 5291 5293 5294 5319 56913 5728 6296 6401 6402 6480 6519 7096 7124 7369 7412 7941 79586 79679 81890 8897 929 9365 9526 960 98	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110303	autosomal dominant limb-girdle muscular dystrophy type 1H Aliases: LGMD1H muscular dystrophy limb-girdle type 1H	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:1996	rectum adenocarcinoma Aliases: Rectal adenocarcinoma	ABO ACAT1 ACE ACSS2 ALDH2 ALDH7A1 ALDOB ALOX12 ALOX15 ARSA ASAH1 CALR CD44 CEACAM5 CEACAM7 CERS4 CERS5 CHI3L1 CHPT1 COMT CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP2E1 DHCR24 DHDDS EXT1 FH GPX2 GPX3 HMGCS2 HPGDS HSD17B2 MICA MRC1 MUTYH NT5E OGG1 PARP1 PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2G4A PNPLA2 PTEN PTGS1 PTGS2 RENBP SMUG1 TDG TKT TKTL1 TYMP UGT1A1 UMPS	100507436 1048 1087 1116 1312 142 1543 1544 1571 1586 1588 1636 1718 1890 2131 217 2271 229 23583 23659 239 246 27306 28 2877 2878 3158 3294 38 410 427 4360 4595 4907 4968 501 5106 5290 5291 5293 5294 5321 54658 55902 56994 57104 5728 5742 5743 5973 6996 7086 7372 79603 79947 811 8277 91012 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:7442	monoclonal gammopathy of uncertain significance Aliases: MGUS Monoclonal gammopathy of undetermined significance	CANX CD38 CLEC12A COLEC10 ENPP1 FUT4 GPNMB HAS1 KL KLRK1 LPL MAG NCAM1 PARP1 PNP PRSS21 SDC1 TNKS	10457 10584 10942 142 160364 22914 2526 3036 4023 4099 4684 4860 5167 6382 821 8658 9365 952	Homo sapiens (human)	DisGeNET
DOID:11394	adult respiratory distress syndrome Aliases: ARDS Non-cardiogenic pulmonary edema Shock lung acute respiratory distress syndrome adult RDS	ABO ACAA2 ACACA ACE ACO2 AKR1B10 AKR1B1 ALDH7A1 ALOX5 ARSD CAT CD14 CD44 CD55 CEL CLEC1B CYP1A1 CYP1A2 CYP1B1 CYP3A5 CYP3A7 DCN DGKA DHCR24 DPM2 EPHX2 FCN2 FUT3 GAD1 HADHA HPGDS HSD11B2 ICAM1 IL1R1 KL LCT LEP LGALS3 LPCAT1 LTC4S MBL2 MDH1 MTM1 NAAA NAMPT NDST1 NT5E PAFAH1B1 PARP9 PCYT1B PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLD1 PTEN PTGS1 PTGS2 RECK RENBP SFTPA1 SFTPA2 SFTPC SFTPD SLC27A5 SLC2A10 SMPD1 SMUG1 SRGN TM7SF2 TNF TPI1 UGT1A1 UGT8	10135 10449 1056 10998 151056 1543 1544 1545 1551 1577 1604 1606 1634 1636 1718 2053 2220 231 23583 240 2525 2571 27163 27306 28 3030 31 3291 3340 3383 3554 3938 3952 3958 4056 414 4153 4190 4534 4907 50 501 5048 51266 5290 5291 5293 5294 5319 5320 5321 5329 5337 54658 5552 57016 5728 5742 5743 5973 6440 6441 653509 6609 7108 7124 7167 729238 7368 7941 79888 81031 83666 8398 8399 8434 847 8818 929 9365 9468 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:114	heart disease	ABO ACACA ACAN ACAT1 ACE ACHE ACLY ACOX2 ACSM3 ACSS2 ADH1B ADH1C AKR1A1 AKR1B1 ALDH2 ALDH7A1 ALG9 ALOX12 ALOX5 ALPP AMACR ANXA5 ANXA7 APRT ARSA ARSD ARSI ATP6AP2 ATRNL1 C1GALT1 CALR CAT CD14 CD38 CD44 CD74 CDH13 CEACAM5 CERS2 CFC1 CHI3L1 CHST3 COG2 COL9A2 COMT CYP11B1 CYP11B2 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP3A5 CYP4F2 CYP4F3 CYP7A1 DBT DCN DEGS1 DGKE DHCR7 DPEP1 DSE EFNA5 ENO1 ENPP1 EPHX2 FADS1 FADS2 FCGR3B FCN2 FDFT1 FREM1 FUT2 G6PD GAD1 GAL3ST1 GALNS GCK GGT1 GLA GLUL GML GNPDA2 GPC6 GPI GPIHBP1 GPX1 GPX3 GSK3B H6PD HADHB HPGDS HPSE HSD11B1 HSD11B2 HSD17B12 ICAM1 IDH2 IGF2R IL18R1 IL18RAP IL1R1 IL1RAPL1 IL1RL1 IMPA1 INPP5K KAT2A KAT2B KHK KL LCAT LGALS1 LGALS2 LGALS3 LIPA LIPC LIPG LPIN1 LPL LTA4H LTC4S MACROD1 MASP1 MBL2 MBOAT7 MGAM MGAT1 MGLL MICA MPI MRC1 NAAA NAGLU NAMPT NT5E OGA OGG1 OGT OLR1 PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCE1 PLPP3 PMM2 PNPLA2 PNPLA3 PPARGC1A PRKAA2 PTGDS PTGIS PTGS1 PTGS2 RENBP RPE SCD SELE SELP SFTPA1 SFTPA2 SFTPD SHMT1 SI SIRT2 SIRT6 SLC17A5 SLC2A2 SLC2A4 SLC33A1 SLC35A1 SLC35E3 SLC5A1 SMUG1 SOAT1 SPHK2 SULT1E1 TBXAS1 TECR TM7SF2 TYMP UGT1A1 UGT1A6 UGT2B7 UMOD VCAM1 VCAN VNN1	100507436 10082 1012 10135 10159 10327 1048 10559 10724 10855 10891 11141 1116 11343 125 126 1298 1312 132789 142 1462 151056 1543 1544 1545 1555 1557 1559 1571 1573 1577 1581 158326 1584 1585 1588 1593 1629 1634 1636 1717 176 1800 1890 1946 2023 2053 217 2215 2220 2222 22796 22933 231 23175 23236 23583 23600 23659 239 240 250 2524 2539 2571 2588 26033 2645 2648 26503 2678 27163 2717 27306 2752 2765 28 2821 2876 2878 28992 2932 29940 29956 3032 308 31 310 3290 3291 3383 338328 340075 3418 3482 353 3554 3612 3795 38 3931 3956 3957 3958 3988 3990 3992 4023 4048 4051 4056 410 414 4153 4245 43 4351 4360 4669 47 4907 4968 4973 501 5091 51144 51196 51548 5167 51763 5290 5291 5293 5294 5319 5320 5321 5329 5373 54578 54658 55508 5563 55902 55997 5648 56848 56913 57104 5730 5740 5742 5743 5973 6120 6296 6319 6401 6403 6441 6470 6476 6514 6517 6523 653509 6646 6783 6916 7108 729238 7364 7369 7412 79143 7941 79796 80339 811 8309 8398 8399 847 8473 8526 8529 8560 8613 8807 8809 8850 8876 8972 9173 9197 929 9365 9388 9415 9469 9514 952 9524 9563 960 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0090129	carnitine palmitoyltransferase I deficiency Aliases: CPT I deficiency CPT1A deficiency L-CPT1 deficiency carnitine palmitoyl transferase 1A deficiency carnitine palmitoyl transferase IA deficiency hepatic CPT deficiency type I hepatic carnitine palmitoyl transferase 1 deficiency hepatic carnitine palmitoyl transferase I deficiency	ACADM CPT1A CPT2 HSD17B4 PFKM PGAM2	1374 1376 3295 34 5213 5224	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:10914	amnestic disorder Aliases: Amnestic syndrome Korsakoff's psychosis or syndrome amnesia	ABAT ACE ACHE ACSF3 ADH1B AKR1A1 ALDH2 ALOX5 ARSA ARSD CAT CD38 CD44 CD74 CHAT CHI3L1 COMT CPT1A CYP1A2 CYP1B1 DLST ELOVL3 ELOVL6 FKRP FUT10 GAD1 GAD2 GLUL GNE GPX1 HGSNAT HSD11B1 HSD11B2 IDS INPPL1 IRS2 KL LGALS3 LGALS4 MYORG NAGLU NAMPT NEU3 NT5E OGA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLA2G6 PLD1 PLD2 PPT1 PRKAA2 PRNP PSAP PTEN PTGS1 PTGS2 SDHD SFTPA1 SLC17A5 SLC2A4 SMPD1 SMUG1 SPHK2 ST3GAL4 STS SUCLA2 SYNJ1 TKT UGT1A1	10020 10135 10327 10724 10825 1103 1116 125 1312 1374 138050 142 1544 1545 1636 1743 18 197322 217 23583 240 2571 2572 26503 2752 2876 3290 3291 3423 3636 3958 3960 410 412 414 43 4669 4907 5290 5291 5293 5294 5315 5321 5337 5338 54658 5538 5563 5621 5660 56848 5728 5742 5743 57462 6392 6484 6517 653509 6609 7086 79071 79147 83401 8398 847 84750 8660 8803 8867 9365 952 960 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110475	autosomal recessive nonsyndromic deafness 1A Aliases: DFNB1A autosomal recessive deafness 1A	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)	DisGeNET
DOID:2773	contact dermatitis Aliases: Contact dermatitis/eczema Contact eczema Dermatitis, venenata dermatitis venenata	AKR1B10 AKR1C2 CD44 CYP1A1 CYP1B1 G6PD GLB1 UGT1A1 UGT1A6	1543 1545 1646 2539 2720 54578 54658 57016 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:6262	follicular dendritic cell sarcoma Aliases: Follicular Dendritic cell sarcoma Follicular dendritic cell tumour	FCER2 SLC35B2	2208 347734	Homo sapiens (human)	DisGeNET DisGeNET

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