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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 **6426 - 6450** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:3756	protein C deficiency	ABO ACE ALG6 ANXA5 CEACAM5 CEACAM7 CYP2C9 DLD DPM1 DPM2 GLA HPSE LCT MBL2 MGAT2 MPI NGLY1 PC PIGA PMM2 PPP1R3B PPP1R3C PTEN SCD SDC1 SELP SMPD1 SRD5A3 STS	1048 10855 1087 1559 1636 1738 2717 28 29929 308 3938 412 4153 4247 4351 5091 5277 5373 5507 55768 5728 6319 6382 6403 6609 79644 79660 8813 8818	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:2451	protein S deficiency Aliases: Protein S deficiency disease	ABO ACE ALG6 ANXA5 CEACAM5 CEACAM7 CYP2C9 DLD DPM1 DPM2 GLA HPSE LCT MBL2 MGAT2 MPI NGLY1 PC PIGA PMM2 PPP1R3B PPP1R3C PTEN SCD SDC1 SELP SMPD1 SRD5A3 STS	1048 10855 1087 1559 1636 1738 2717 28 29929 308 3938 412 4153 4247 4351 5091 5277 5373 5507 55768 5728 6319 6382 6403 6609 79644 79660 8813 8818	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050157	cryptogenic organizing pneumonia Aliases: BOOP Cryptogenic organising pneumonitis Cryptogenic organizing pneumonitis bronchiolitis obliterans organising pneumonia bronchiolitis obliterans organizing pneumonia cryptogenic organising pneumonia idiopathic bronchiolitis obliterans with organising pneumonia idiopathic bronchiolitis obliterans with organizing pneumonia	SFTPA1	653509	Homo sapiens (human)	DisGeNET
DOID:9719	neovascular inflammatory vitreoretinopathy Aliases: ADNIV Retinitis proliferans autosomal dominant neovascular inflammatory vitreoretinopathy proliferative vitreoretinopathy	ACE CAT CD44 DCN FMOD HPGDS HPRT1 ICAM1 LGALS1 LGALS3 LRP5 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G6 RPE	1634 1636 2331 27306 3251 3383 3956 3958 4041 5290 5291 5293 5294 6120 8398 847 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080169	tricuspid atresia	COMT PLD1	1312 5337	Homo sapiens (human)	DisGeNET
DOID:0040085	bacterial sepsis	AACS ABO ACAT1 ACE ACHE ACOD1 ACOT8 ACSL1 ACSL4 ACSM3 ACSS2 ALDH2 ALOX12 ALOX12B APRT ARSA ATP6V0A2 BAAT BCKDHA CALR CAT CD14 CD177 CD22 CD38 CD44 CD74 CHI3L1 CHIT1 CLEC1B CLEC7A COLEC11 CS CYP1A1 CYP1A2 CYP2C8 CYP2E1 CYP2J2 CYP4F3 DHCR24 DLD ENO2 EXTL3 FASN FCGR3B FCN2 FUT4 G6PC3 G6PD GALNS GALT GAPDH GLUL GPX3 HPRT1 HSD11B2 ICAM1 IL1RL1 ISYNA1 KL KLRC1 LGALS1 LGALS3 LIPC MASP1 MASP2 MBL2 MGLL MMUT MRC1 NAAA NAMPT PARP1 PC PFKFB3 PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G7 PLAUR PLB1 PLCG1 PLD1 PNPLA2 PRKAA2 PSAP PSMD10 PTEN PTGS2 PYGM SARM1 SDC1 SELL SELP SFTPA1 SFTPA2 SFTPD SGMS2 SIRT2 SIRT6 SLC2A4 SLC39A8 SLC5A1 SMPD1 SOAT1 SPHK1 SPTLC3 STS SULF1 SULT1E1 SULT2B1 TM7SF2 TMED3 UGT1A1 VCAM1	10005 10135 10747 1116 1118 11343 142 1431 151056 1543 1544 1558 1571 1573 1636 166929 1718 1738 2026 2137 217 2180 2182 2194 2215 2220 22933 23098 23213 23423 23545 23659 239 242 2526 2539 2588 2592 2597 27163 2752 28 2878 3251 3291 3383 353 38 3821 3956 3958 3990 4051 410 412 4153 43 4360 4594 5091 51266 51477 51548 5209 5238 5290 5291 5293 5294 5310 5315 5319 5320 5321 5329 5335 5337 54658 55304 5563 55902 5648 5660 570 57104 57126 5716 5728 5743 5837 593 6296 6382 6402 6403 64116 6441 64581 6517 6523 653509 65985 6609 6646 6783 6820 7108 729238 730249 7412 78989 7941 811 8399 847 8877 9173 92579 929 933 9365 952 960 972	Homo sapiens (human)	DisGeNET
DOID:0080031	fibrous dysplasia	APRT B3GAT1 PTGS2 SMUG1	23583 27087 353 5743	Homo sapiens (human)	DisGeNET
DOID:6951	telangiectatic osteogenic sarcoma Aliases: Telangiectatic osteosarcoma	IDH2	3418	Homo sapiens (human)	DisGeNET
DOID:7614	meninges sarcoma Aliases: Meningeal sarcoma sarcoma of meninges	PTEN TP53	5728 7157	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:7689	leptomeninges sarcoma Aliases: Leptomeningeal sarcoma sarcoma of Leptomeninges	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:4932	ampulla of Vater carcinoma Aliases: ampulla of vater cancer ampullary carcinoma carcinoma of ampulla of vater	CD44 CEACAM5 CYP1A1 MMUT PIK3CA PIK3CB PIK3CD PIK3CG PTGS2	1048 1543 4594 5290 5291 5293 5294 5743 960	Homo sapiens (human)	DisGeNET
DOID:5411	lung oat cell carcinoma Aliases: oat cell carcinoma	CBR1 CD44 CEACAM5 CHGA CYP1A1 CYP2E1 ENO2 LGALS3 MRC1 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1 STS UGT1A1	1048 1113 1543 1571 2026 23583 3958 412 4360 4684 5290 5291 5293 5294 54658 5728 873 960	Homo sapiens (human)	DisGeNET
DOID:4717	extragonadal germ cell cancer Aliases: extragonadal germ cell malignant tumor neoplasm of Extragonadal germ cell	PLCB3	5331	Homo sapiens (human)	DisGeNET
DOID:13677	SAPHO syndrome Aliases: Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome	DPEP1 LPIN2 SMUG1	1800 23583 9663	Homo sapiens (human)	DisGeNET
DOID:14224	tracheal calcification Aliases: Calcification of trachea	EBP	10682	Homo sapiens (human)	DisGeNET
DOID:11162	respiratory failure Aliases: acute and chronic respiratory failure acute respiratory Failure acute-on-chronic respiratory failure chronic respiratory failure respiratory insufficiency/failure	ABO CYP1A1 IDH1 MBL2 PARP1 PIK3C3 PTEN SFTPA2 SFTPD SLC2A10	142 1543 28 3417 4153 5289 5728 6441 729238 81031	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110218	Brugada syndrome 1 Aliases: BRGDA1	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110222	Brugada syndrome 5 Aliases: BRGDA5	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110224	Brugada syndrome 7 Aliases: BRGDA7	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110220	Brugada syndrome 3 Aliases: BRGDA3	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050451	Brugada syndrome Aliases: Bangungut Brugada type idiopathic ventricular fibrillation Dream disease Pokkuri death syndrome SUNDS sudden unexplained nocturnal death syndrome	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110223	Brugada syndrome 6 Aliases: BRGDA6	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110225	Brugada syndrome 8 Aliases: BRGDA8	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110221	Brugada syndrome 4 Aliases: BRGDA4	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET

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