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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 **2176 - 2200** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:2736	Hajdu-Cheney syndrome Aliases: Cheney syndrome HJCYS SFPKS acroosteolysis with osteoporosis and changes in skull and mandible arthrodentoosteodysplasia serpentine fibula-polycystic kidney syndrome	N	31293	Drosophila melanogaster (fruit fly)
DOID:9119	acute myeloid leukemia Aliases: AML - acute Myeloid Leukemia Leukemia, Myelocytic, acute acute myeloblastic leukaemia acute myeloblastic leukemia acute myelogenous leukaemia acute myelogenous leukemia acute myeloid leukaemia	CTS2 IDP1 IDP2 IDP3 PGI1	850871 851493 851977 852495 855723	Saccharomyces cerevisiae S288C
DOID:0050564	autosomal dominant nonsyndromic deafness Aliases: autosomal dominant deafness	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PI4KB PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5298 5660 7007	Homo sapiens (human)
DOID:0060677	catecholaminergic polymorphic ventricular tachycardia 3 Aliases: CVPT3	ACADVL ACE CALR CHPT1 FKRP FUT1 GOLPH3 GYG1 PTGS2 SCD	1636 2523 2992 37 56994 5743 6319 64083 79147 811	Homo sapiens (human)
DOID:5744	ovary serous adenocarcinoma Aliases: malignant ovarian serous tumor serous carcinoma of Ovary	ANXA4 CALR LGALS3 LSS MSLN PTGS2 ST3GAL1 TP53	10232 307 3958 4047 5743 6482 7157 811	Homo sapiens (human)
DOID:0060744	Pendred Syndrome Aliases: TDH2B congenital hypothyroidism due to dyshormonogenesis 2B deafness with goiter genetic defect in thyroid hormonogenesis 2B goiter-deafness syndrome thyroid dyshormonogenesis 2B	ALDH7A1 PTGDS SLC26A2	1836 501 5730	Homo sapiens (human)
DOID:11984	hypertrophic cardiomyopathy Aliases: hypertrophic obstructive cardiomyopathy	Cs	12974	Mus musculus (house mouse)
DOID:1932	Angelman syndrome Aliases: happy puppet syndrome puppetlike syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:656	adrenal adenoma Aliases: adenoma of the Adrenal gland	ACACA ACADVL AKR1C3 ALOX15B CHGA CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP2B6 CYP4F3 DHCR24 G6PD GAPDH HSD11B2 HSD3B2 SDHB SDHC SDHD SMUG1	1113 1555 1583 1584 1585 1586 1588 1589 1718 23583 247 2539 2597 31 3284 3291 37 4051 6390 6391 6392 8644	Homo sapiens (human)
DOID:2048	autoimmune hepatitis Aliases: Autoimmune chronic active hepatitis autoimmune hepatitis with centrilobular necrosis	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:8233	inflammatory liposarcoma	ALPP ATRNL1 CPM FASN GGT1 IDH1 IDH2 NANS TNKS	1368 2194 250 26033 2678 3417 3418 54187 8658	Homo sapiens (human)
DOID:9261	nasopharynx carcinoma Aliases: Nasopharyngeal carcinoma malignant Nasopharyngeal tumor malignant neoplasm of nasopharynx nasopharynx cancer	ABO ACE ADH1B AGK AKR1B10 ALDH2 ALPI ALPP AMACR ANXA5 ANXA7 APRT ARSA ART1 BDH2 BST2 CACNA2D2 CACNA2D3 CALR CD209 CD38 CD44 CD93 CDH13 CEL CLC CPT1A CYB5R2 CYP2E1 DHCR24 EFNA2 ENO1 FASN FCER2 FH FOLR1 GALC GALNT7 GFPT1 GGT1 GPX1 GPX2 GUSB HPGDS HPSE ICAM1 INPP4B KLRK1 LDHA LGALS1 LGALS9 LYPD5 MAPK14 MICA MLYCD MMUT MRC1 MTAP OGG1 OPCML PARP1 PFKFB3 PIGU PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G6 PLA2G7 PLAAT3 PLB1 PLCD3 PNPLA2 PRKAA2 PTEN PTGS2 RECK RPN2 RTN4R RTN4RL1 SDC1 SELP SIRT2 SIRT6 SMPD1 SMUG1 SOAT1 SPHK1 SRGN TIGAR TKT TKTL1 TM7SF2 TP53 TYMP UGT2B17 VCAM1	100507436 1012 1056 10855 11145 113026 1178 125 128869 1374 142 1432 146760 151056 1571 1636 1718 1890 1943 2023 217 2194 2208 2271 22914 22918 22933 23417 2348 23583 23600 248 250 2581 2673 2678 27306 28 284348 2876 2877 2990 308 30835 310 3383 353 3939 3956 3965 410 417 4360 4507 4594 4968 4978 51548 51700 51809 5209 5290 5291 5293 5294 5315 5319 5552 5563 55750 55799 56898 57016 57103 57104 5728 5743 6185 6382 6403 65078 6609 6646 684 7086 7108 7157 7367 7412 7941 811 8277 8398 8434 8821 8877 9254 952 960	Homo sapiens (human)
DOID:1074	kidney failure Aliases: renal failure	A4GALT ACE ACSL4 ACSS2 AGL AGPAT2 AGXT AKR1B1 ALOX12B ALOX5 ALPP APRT ARSA ATP6AP2 ATRNL1 CAT CHGA COG1 CPM CPT2 CTNS CTSA CYP11B2 CYP1A2 CYP24A1 CYP2C19 CYP2C9 CYP3A4 CYP3A5 CYP4F3 DCN DEGS1 DGKE DHDDS EBP ENPP1 FCGR3B G6PC1 GCNT2 GGT1 GLA GRHPR HAGH HPRT1 HPSE2 HPSE HSD11B2 HSPG2 ICAM1 IDH2 INPP5E KL KLB LCAT LDHA LGALS3 LYZ MASP1 MBL2 ME1 MMUT MSLN NAGLU NAMPT NCAN OCRL OGA OLR1 PARP1 PGAM2 PGK1 PIK3C3 PKD1 PKD2 PLA2G15 PLA2G7 PNPLA3 PNPLA6 PPARGC1A PRKAA2 PRPS1 PTGS1 PTGS2 PYGM RENBP RGN SDC1 SDC2 SELE SELL SELP SLC17A5 SLC2A2 SLC35G1 SLC37A4 SLC3A1 SLC5A1 SMC3 SMUG1 STS SULT2B1 TLR2 TLR4 TM7SF2 TMEM260 UGT2B17 UMOD VCAM1 VCAN XYLT1 XYLT2	10135 10159 10232 10555 10682 10724 10855 10891 10908 1113 1368 1376 142 1462 1463 1497 152831 1544 1557 1559 1576 1577 1585 1591 159371 1634 1636 178 189 2182 2215 231 23583 23659 240 242 250 2538 2542 26033 26503 2651 2678 2717 3029 3251 3291 3339 3383 3418 353 3931 3939 3958 4051 4069 410 412 4153 4199 4594 4669 4952 4973 5167 5224 5230 5289 5310 5311 53947 5476 54916 5563 55902 5631 5648 56623 5742 5743 5837 5973 60495 6382 6383 6401 6402 6403 64131 64132 6514 6519 6523 6820 7097 7099 7108 7367 7369 7412 7941 79947 80339 847 8526 8560 9104 9126 9365 9380 9382	Homo sapiens (human)
DOID:7146	Langerhans cell sarcoma	FCER2 SLC35B2	2208 347734	Homo sapiens (human)
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	pofut1	496411	Xenopus tropicalis (tropical clawed frog)
DOID:0080557	congenital disorder of glycosylation Ie Aliases: congenital disorder of glycosylation 1e	Dpm1	13480	Mus musculus (house mouse)
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	Gck Ins1 Ins2 Kcnj11 Lep Lepr Pfkfb1 Rbp4	24385 24505 24506 24536 24638 25608 25703 83535	Rattus norvegicus (Norway rat)
DOID:379	external ear disease Aliases: Preauricular cyst Preauricular sinus and fistula Preauricular sinus or fistula	SMUG1	23583	Homo sapiens (human)
DOID:419	scleroderma Aliases: dermatosclerosis	ACACA ACE ACOT7 ACSBG1 ALDH3A2 ALOX5 BST2 CAT CD14 CD1D CD22 CD248 CD44 CD72 CEL CHI3L1 CHST8 CYP1A1 CYP21A2 CYP2B6 CYP2C9 DCN DGKQ DLAT ENPP2 FCGR3B FCN2 FCN3 FOLR2 GLB1 GPI HPGDS HPRT1 HSPG2 ICAM1 ICAM2 IL1R1 IL1RAP KL KLRB1 LGALS3 LGALS9 MBD4 OXCT1 PARP1 PARP9 PGM1 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PLD3 PLD4 PTEN PTGS2 SDC1 SDC2 SDHC SELE SELL SFTPD SIGLEC1 SLC27A5 SLC33A1 SMUG1 SOAT1 ST3GAL1 ST6GAL1 SULT1E1 TM7SF2 TPI1 VCAM1 XYLT2	1056 10998 1116 11332 122618 142 1543 1555 1559 1589 1609 1634 1636 1737 2215 2220 224 23205 2350 23583 23646 240 2720 27306 2821 31 3251 3339 3383 3384 3554 3556 3820 3958 3965 5019 5168 5236 5287 5290 5291 5293 5294 5329 57124 5728 5743 6382 6383 6391 6401 6402 64132 64377 6441 6480 6482 6614 6646 6783 684 7108 7167 7412 83666 847 8547 8930 912 9197 929 933 9365 960 971	Homo sapiens (human)
DOID:0111041	glycogen storage disease IXb Aliases: GSD IXb GSD due to liver and muscle phosphorylase kinase deficiency GSD type 9B GSD type IXb GSD9B glycogen storage disease type 9B glycogen storage disease type IXb glycogenosis due to liver and muscle phosphorylase kinase deficiency glycogenosis type 9B glycogenosis type IXb	ACADM AGL ALDOA APRT EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 GAA GBE1 GLA GYG1 GYG2 GYS2 HADHA LDHA MGAM PFKL PFKM PGAM2 PGK1 PGM1 PHKB PYGM SI SLC2A2 SLC37A4	178 1962 2027 2203 226 2538 2542 2548 2632 2717 2992 2998 3030 34 353 3939 5211 5213 5224 5230 5236 5257 57818 5837 6476 6514 7957 8908 8972 92579	Homo sapiens (human)
DOID:0050444	infantile Refsum disease Aliases: infantile phytanic acid storage disease	CAT GPD1 HSD17B4 SCP2	2819 3295 6342 847	Homo sapiens (human)
DOID:3021	acute kidney failure	ACE ALOX5 BAD CD44 CYP27B1 CYP2C19 CYP2C9 CYP2E1 DGKE EPHX2 G6PD GPNMB GPX3 HEXB HPRT1 ICAM1 LGALS3 LPIN1 PKD2 PTGS2 TLR4 UGT1A1 UGT1A9	10457 1557 1559 1571 1594 1636 2053 23175 240 2539 2878 3074 3251 3383 3958 5311 54600 54658 572 5743 7099 8526 960	Homo sapiens (human)
DOID:3407	carotid artery disease Aliases: disorder of carotid artery	Tl trol	43222 45320	Drosophila melanogaster (fruit fly)
DOID:0110861	autosomal recessive polycystic kidney disease Aliases: Arpkd Pkhd1 Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney and Hepatic Disease 1	ACE AKT1 CD14 CD44 CYP4A11 CYP4A22 CYP7B1 DOLK EOGT HJV INPP5E MPI PIK3CA PKD1 PKD2 PNPLA6 UMOD	10908 148738 1579 1636 207 22845 284541 285203 4351 5290 5310 5311 56623 7369 929 9420 960	Homo sapiens (human)
DOID:589	congenital hemolytic anemia Aliases: congenital hemolytic anaemia hereditary hemolytic anaemia hereditary hemolytic anemia	Gpi	292804	Rattus norvegicus (Norway rat)

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