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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 **1801 - 1825** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0070123	congenital nongoitrous hypothyroidism 4 Aliases: CHNG4 isolated thyrotropin deficiency	ACE ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD HJV	145173 148738 1636 1946 2026 2539 427 43	Homo sapiens (human)
DOID:0060000	infective endocarditis	ACE ARSD CHPT1 ENO1 GPI ICAM1 MANEA MTM1 PCYT1A SMUG1 TLR6	10333 1636 2023 23583 2821 3383 414 4534 5130 56994 79694	Homo sapiens (human)
DOID:0050439	Usher syndrome	ALDH7A1 ARSG ASAH1 PLD4	122618 22901 427 501	Homo sapiens (human)
DOID:905	Zellweger syndrome Aliases: cerebrohepatorenal syndrome congenital iron overload	ACAA1 ACOX2 AGPS CAT GNPAT GPD1 HSD17B4 HSD17B7 PAFAH1B1 SCP2	2819 30 3295 5048 51478 6342 8309 8443 847 8540	Homo sapiens (human)
DOID:0080548	Noonan syndrome with multiple lentigines 1 Aliases: LEOPARD syndrome 1	PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:5530	thymus squamous cell carcinoma Aliases: Epidermoid Thymic carcinoma	LY75	4065	Homo sapiens (human)
DOID:0050981	spinocerebellar ataxia type 34	ELOVL4	6785	Homo sapiens (human)
DOID:0110414	retinitis pigmentosa 3 Aliases: RP3	COG4	25839	Homo sapiens (human)
DOID:0080998	acute necrotizing pancreatitis	ICAM1 PDX1 SELP TBXAS1 TLR2 TLR4	3383 3651 6403 6916 7097 7099	Homo sapiens (human)
DOID:0110515	autosomal recessive nonsyndromic deafness 63 Aliases: DFNB63 autosomal recessive deafness 63	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:0090140	cortisone reductase deficiency 2 Aliases: CORTRD2	HSD11B1	3290	Homo sapiens (human)
DOID:0111343	lateral meningocele syndrome Aliases: Lehman syndrome	COMT LDHA PIK3CA PIK3CB PIK3CD PIK3CG PTDSS1 PTEN SMUG1 VCAN	1312 1462 23583 3939 5290 5291 5293 5294 5728 9791	Homo sapiens (human)
DOID:5667	sweat gland carcinoma Aliases: carcinoma of the Sweat gland	CEACAM5 SMUG1	1048 23583	Homo sapiens (human)
DOID:0060452	posterior amorphous corneal dystrophy Aliases: PACD chromosome 12q21.33 deletion syndrome	DCN	1634	Homo sapiens (human)
DOID:11984	hypertrophic cardiomyopathy Aliases: hypertrophic obstructive cardiomyopathy	ABO ACACA ACADL ACADS ACADVL ACE ACSL1 ADPRH AGK AGL AGPAT2 ALDH2 ALG1 APRT ARSB ARSD ATP6V1A ATRN CALR3 CALR CAT CBR1 CBR3 CHST3 CNTN3 COG7 CPT1A CPT2 CS CYP11B2 CYP1A1 CYP1B1 CYP27B1 CYP2C19 CYP2C9 CYP2E1 DAG1 DCN DLD DPM3 ECHS1 EPHX2 FASN FIG4 FKRP FKTN FUT4 G6PD GAA GAPDH GBE1 GLA GLB1 GMPPB GNE GNPTAB GPC3 GPX3 GUSB GYG1 GYS1 HADH HADHA HADHB HAS3 HJV HPGDS HPSE ICAM1 IDH2 IDUA IGF2R IL1RL1 KL LDHA LGALS3 LPL MASP2 MBL2 MCAT MGAM MGAT1 MLYCD MMUT MTMR14 NAGA NAMPT NCAM1 NEU1 OLR1 PARP1 PCCA PCCB PDHA1 PGK1 PGM1 PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKD1 PLA2G7 PMM2 PNPLA2 POMGNT1 POMK POMT1 PRKAA2 PTEN PTGS2 SCD5 SCD SDHA SDHB SDHD SGSH SI SIRT4 SLC2A10 SLC33A1 SLC5A1 SMUG1 SORD ST3GAL4 SUCLG1 SULT1E1 TPI1	10020 10135 10555 10585 10747 10855 125972 1374 1376 141 142 1431 148738 1543 1545 1557 1559 1571 1585 1594 1605 1634 1636 1738 178 1892 200576 2053 217 2180 2194 2218 23409 23417 23583 2526 2539 2548 2597 2632 2717 2719 2720 27306 27349 28 2878 2990 2992 29925 2997 3030 3032 3033 3038 31 33 3383 3418 3425 3482 35 353 37 3939 3958 4023 411 414 4153 4245 4594 4668 4684 4758 4973 5067 5095 5096 5160 523 5230 5236 5289 5290 5291 5293 5294 5310 5373 54344 55624 5563 55750 56052 57104 5728 5743 6319 6389 6390 6392 64419 6448 6476 6484 6523 6652 6783 7167 79147 79158 7941 79966 81031 811 84197 8455 847 873 874 8802 8972 9173 91949 9197 9365 9469 9896	Homo sapiens (human)
DOID:9682	yellow fever Aliases: Sylvatic yellow fever Yellow fever, sylvan jungle yellow fever urban yellow fever	ABO ACHE AGPAT1 AMACR ANXA5 APRT BST2 CAT CD14 CD209 CD33 CD38 CERS1 CHST10 CLEC5A CSPG5 DDOST FASN FCGR3B G6PD GAPDH GOLPH3 HPSE2 HPSE HSD17B6 ICAM1 IL1RL1 KLRC1 LGALS9 MBL2 MGAM MICA MOGS MRC1 NAAA PIK3CA PIK3CB PIK3CD PIK3CG PLCE1 PRKAA2 PRNP PTGS2 SCD SELE SI SIRT6 SLC17A5 SMUG1 SOAT1 SPHK1 SPHK2 STT3B TM7SF2 TPI1 VCAM1	100507436 10554 10675 10715 10855 1650 201595 2194 2215 23583 23600 23601 2539 2597 26503 27163 28 308 30835 3383 353 3821 3965 4153 43 4360 51196 51548 5290 5291 5293 5294 5563 5621 56848 5743 60495 6319 6401 64083 6476 6646 684 7108 7167 7412 7841 847 8630 8877 8972 9173 929 945 9486 952	Homo sapiens (human)
DOID:0110343	osteogenesis imperfecta type 14 Aliases: OI14 osteogenesis imperfecta type XIV	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0060704	lymphoproliferative syndrome Aliases: Combined immunodeficiency due to ITK deficiency	KLRK1	22914	Homo sapiens (human)
DOID:1725	peritoneum cancer	PRG2	5553	Homo sapiens (human)
DOID:14654	prostatitis	CYP19A1 HADHA HADHB PTGS2 SMUG1	1588 23583 3030 3032 5743	Homo sapiens (human)
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	ACE AKR1B1 ALDH3A2 ALDH7A1 ALOX12B ALPL AMY2B APRT CANX CAT CERS3 DGAT1 EBP ELOVL4 ENPP1 GBA1 GLA GNPTAB GPX1 HPGDS HSD17B6 ICAM1 LPIN2 MPDU1 NCAM1 NT5E PKD1 PLA2G1B PNPLA2 PNPLA6 POGLUT1 PTEN PTGS2 SELE SELL SELP SGPL1 SMUG1 STS SULT2B1 XYLT1 XYLT2	10682 10908 1636 204219 224 231 23583 242 249 2629 2717 27306 280 2876 3383 353 412 4684 4907 501 5167 5310 5319 56983 57104 5728 5743 6401 6402 6403 64131 64132 6785 6820 79158 821 847 8630 8694 8879 9526 9663	Homo sapiens (human)
DOID:8481	rheumatic myocarditis Aliases: Rheumatic degeneration of myocardium Rheumatic fever with myocarditis Rheumatoid myocarditis active rheumatic fever with myocarditis acute rheumatic carditis acute rheumatic myocarditis	ICAM1 SELE VCAM1	3383 6401 7412	Homo sapiens (human)
DOID:11014	anorectal stricture Aliases: Stenosis of rectum and anus	AKR1A1 ENO2 FREM1 PIGV	10327 158326 2026 55650	Homo sapiens (human)
DOID:5662	pleomorphic carcinoma	CYP1A1	1543	Homo sapiens (human)
DOID:0110587	autosomal dominant nonsyndromic deafness 66 Aliases: DFNA66 autosomal dominant deafness 66	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)

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