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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 **276 - 300** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:3721	plasmacytoma Aliases: Myeloma - solitary Myeloma, solitary Solitary myeloma Solitary plasmacytoma	ACE ACSL6 AKR1C4 ALOX5 CALR CAT CD177 CD33 CD38 CEL CH25H CHI3L1 CHIT1 CYP1A1 CYP2B6 ENPP1 G6PD HPGDS ICAM1 IDH1 IDH2 IL18R1 ISYNA1 LGALS1 LGALS3 LPL NCAM1 PCYT1A PIGA PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PTEN SDC1 SMUG1 SOAT1	1056 1109 1116 1118 1543 1555 1636 23305 23583 240 2539 27306 3383 3417 3418 3956 3958 4023 4684 5130 51477 5167 5277 5290 5291 5293 5294 5329 57126 5728 6382 6646 811 847 8809 9023 945 952	Homo sapiens (human)
DOID:0080128	mitochondrial DNA depletion syndrome 9 Aliases: fatal infantile lactic acidosis	SUCLA2 SUCLG1	8802 8803	Homo sapiens (human)
DOID:6225	Cronkhite-Canada syndrome Aliases: gastric Cronkhite Canada polyposis polyposis, skin pigmentation, alopecia, and fingernail changes	PTEN	5728	Homo sapiens (human)
DOID:0112213	multiple congenital anomalies-hypotonia-seizures syndrome 4 Aliases: DEE77 GPIBD19 MCAHS4 developmental and epileptic encephalopathy 77 early infantile epileptic encephalopathy 77 glycosylphosphatidylinositol biosynthesis defect 19	PIGQ	9091	Homo sapiens (human)
DOID:6713	cerebrovascular disease Aliases: CVA cerebrovascular disorder stroke	Hsepi Zw	32974 35569	Drosophila melanogaster (fruit fly)
DOID:0111353	arthrogryposis, renal dysfunction, and cholestasis 1 Aliases: ARCS1	ALPL GGT1	249 2678	Homo sapiens (human)
DOID:2349	arteriosclerosis Aliases: Arteriosclerotic vascular disease	CTS2 GCY1 YPR1	851974 851977 854287	Saccharomyces cerevisiae S288C
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	Eogt N	31293 33424	Drosophila melanogaster (fruit fly)
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	Poglut1	224143	Mus musculus (house mouse)
DOID:0110450	dilated cardiomyopathy 1II Aliases: CMD1II	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:0110844	xeroderma pigmentosum group C Aliases: XP group C XP3 XPC XPCC xeroderma pigmentosum III	CAT COMT CYP1B1 HPGDS HPRT1 MPG OGG1 PIK3CA PIK3CD PIK3CG PTEN PTGS2 SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4350 4968 5290 5293 5294 5728 5743 64132 6888 847	Homo sapiens (human)
DOID:1407	anterior uveitis	Tl	43222	Drosophila melanogaster (fruit fly)
DOID:4483	rhinitis	ACE CD14 HPGDS ICAM1 IL1RL1 LEP MBL2 PGP PTGDS SFTPD SIGLEC7 ST8SIA4 TLR2 TLR6 TNF	10333 1636 27036 27306 283871 3383 3952 4153 5730 6441 7097 7124 7903 9173 929	Homo sapiens (human)
DOID:819	mediastinitis	ARSA	410	Homo sapiens (human)
DOID:8544	chronic fatigue syndrome Aliases: CFS Myalgic encephalitis Myalgic encephalomyelitis Postviral fatigue syndrome	ACE ADH5 ALOX5 APRT ARSA B3GAT1 CAT CD14 CD1D CD38 CD44 CD48 CD74 CD93 CEMIP CERS2 CERS6 CH25H CHAT CHGA CLEC12A COMT CPT1A CPT2 CYP17A1 CYP27B1 CYP46A1 DEGS1 DGAT1 FASN FCN1 FOLR2 FUT7 FUT8 GANAB GAPDH GCK GLUL GPI HPGDS HPRT1 HPSE ICAM1 ICAM5 IL1R1 ISYNA1 KL KLRK1 LDHA LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LY75 MASP2 MBL2 MGLL NCAM1 NDST1 NT5E PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PSMD10 PTEN PTGDS PTGES PTGS2 RGMA RTN4R SDC1 SELE SELP SEMA7A SIGLEC12 SIGLEC1 SIRT6 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 ST3GAL4 STS SULT1E1 TMED5 TPI1 VCAM1	10747 10855 10858 1103 1113 11343 128 1312 1374 1376 142 151056 1586 1594 160364 1636 2194 2219 22914 22918 23193 2350 23583 240 2529 2530 253782 2597 2645 27087 27306 2752 2821 29956 3251 3340 3383 353 3554 3939 3956 3958 3960 3964 3965 4065 410 412 4153 4684 4907 50999 51477 51548 5290 5291 5293 5294 5315 5319 5320 5321 56848 56963 5716 57214 5728 5730 5743 6382 6401 6403 6484 65078 6609 6614 6646 6783 7087 7167 7412 8398 847 8482 8560 8694 8877 89858 9023 912 929 9365 952 9536 960 962 972	Homo sapiens (human)
DOID:6404	metanephric adenoma	B3GAT1	27087	Homo sapiens (human)
DOID:4988	alcoholic pancreatitis	ugt-61	185500	Caenorhabditis elegans
DOID:4730	vasomotor rhinitis	ABO ACACA ACE ADH1B AGXT AKR1B1 AMY1A AMY1B AMY1C CAT CD14 CHI3L1 CHIA CHIT1 CLC CLEC16A CTBS ENPP3 HACD1 ICAM1 IL18R1 IL1RL1 IL1RL2 KLB KLRC1 LGALS3 LTC4S LYZ MBL2 NEU1 NEU2 NT5E PARP1 PCYT1B PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G7 PLB1 PLCG2 PTGS2 SFTPA1 SFTPA2 SFTPD SIGLEC7 SOAT1 ST8SIA2 UGT8	1116 1118 1178 125 142 1486 151056 152831 1636 189 231 23274 27036 27159 276 277 278 28 31 3383 3821 3958 4056 4069 4153 4758 4759 4907 5169 5238 5290 5291 5293 5294 5319 5336 5743 6441 653509 6646 729238 7368 7941 8128 847 8808 8809 9173 9200 929 9468	Homo sapiens (human)
DOID:2581	chondrodysplasia punctata Aliases: Chondrodysplasia punctata congenita	AGPS ARSB ARSH B3GALT6 COL9A2 DHCR24 EBP EXTL3 FDFT1 GNPAT GUSB MSMO1 NEU1 NSDHL SLC26A2 STS SUMF1 TMEM165 XYLT1	10682 126792 1298 1718 1836 2137 2222 285362 2990 347527 411 412 4758 50814 55858 6307 64131 8443 8540	Homo sapiens (human)
DOID:4500	hypokalemia Aliases: hypopotassemia potassium deficiency disorder	Akr1b1	24192	Rattus norvegicus (Norway rat)
DOID:0081168	HMG-CoA synthase 2 deficiency Aliases: 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency	HMGCS2	3158	Homo sapiens (human)
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	xylt1	560951	Danio rerio (zebrafish)
DOID:0110235	cataract 2 multiple types Aliases: CTRCT2 cataract 2 multiple types with or without microcornea	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PIK3CA PIK3CB PIK3CD PIK3CG PTEN SLC17A5 SLC33A1 SORD	1593 2262 2584 26503 2651 4047 4952 501 51084 51763 5290 5291 5293 5294 55750 5728 6652 9197	Homo sapiens (human)
DOID:14503	neuronal ceroid lipofuscinosis Aliases: hereditary ceroid lipofuscinosis	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP SCP2	1203 22901 2571 2572 3956 47 5310 5538 5660 6342 7957 9374	Homo sapiens (human)
DOID:1799	islet cell tumor Aliases: Islet cell neoplasm endocrine pancreas cancer islet cell tumour malignant pancreatic Endocrine tumor malignant pancreatic Endocrine tumour malignant tumor of endocrine pancreas malignant tumour of endocrine pancreas pancreatic Endocrine neoplasm	ABO ACSS2 ADH1C ALDH1A3 ALOX15 ALPP ANXA5 B3GNT6 BAAT CALR CBR1 CD44 CD55 CDH13 CEACAM5 CEACAM7 CHGA CHPT1 CLC CNTN1 CYP3A4 DHCR24 DHDDS DLD ENPP7 FUT4 GALNT12 GLB1 GUSB HPGDS ICAM1 KLRK1 LCT LGALS4 MICA MRC1 MUTYH NTHL1 OGG1 PAFAH1B1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG2 PRKAA2 PSMD10 PTEN PTGES PTGS1 PTGS2 PYGM RPE RPIA SDHA SDHB SLC2A2 SLC2A3 SMPD1 SMUG1 SOAT1 TNKS UGT1A3	100507436 1012 1048 1087 1113 1178 126 1272 142 151056 1576 1604 1718 1738 192134 220 22914 22934 23583 23659 246 250 2526 2720 27306 28 2990 308 3383 339221 3938 3960 4360 4595 4913 4968 5048 5130 5290 5291 5293 5294 5311 5319 5320 5321 5336 54659 5563 55902 56994 570 5716 5728 5742 5743 5837 6120 6389 6390 6514 6515 6609 6646 7941 79695 79947 811 8398 8399 8658 873 9536 960	Homo sapiens (human)

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