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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 **1151 - 1175** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0090024	split hand-foot malformation 1 with sensorineural hearing loss Aliases: SHFM1D congenital deafness with split hands and feet	ENOSF1 IL18R1 OGG1 PIK3CA	4968 5290 55556 8809	Homo sapiens (human)
DOID:2789	parasitic protozoa infectious disease Aliases: mastigophora infectious disease sarcomastigophora infectious disease	CYP51A1 HK1	1595 3098	Homo sapiens (human)
DOID:0080821	exercise-induced bronchoconstriction Aliases: exercise-induced asthma	ALOX5	240	Homo sapiens (human)
DOID:0110969	brachydactyly type B1 Aliases: BDB1	PARP1	142	Homo sapiens (human)
DOID:0060901	lymphoplasmacytic lymphoma Aliases: Waldenstroem's macroglobulinemia Waldenstrom Macroglobulinemia lymphoplasmacytic lymphoma with IgM gammopathy	ACSBG1 ANXA5 CD22 CD38 CLEC12A COLEC10 FCER2 GPX3 HAS1 HAS2 HMMR LPL NAMPT NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 SLC35B2 SMUG1 SOAT1	10135 10584 160364 2208 23205 23583 2878 3036 3037 308 3161 347734 4023 4684 5290 5291 5293 5294 5336 6646 933 952	Homo sapiens (human)
DOID:0110227	cataract 32 multiple types Aliases: CTRCT32	ACE AGK ALDH7A1 CHI3L1 CRYL1 CYP1A1 CYP27A1 FCGR3B FCN2 GALK1 GCNT2 GPC5 INPP5K LSS MBL2 OCRL PTEN SDC4 SFTPA1 SFTPA2 SFTPD SLC17A5 SLC2A10 SLC33A1 SMC3 SMPD1 SORD	1116 1543 1593 1636 2215 2220 2262 2584 26503 2651 4047 4153 4952 501 51084 51763 55750 5728 6385 6441 653509 6609 6652 729238 81031 9126 9197	Homo sapiens (human)
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy Aliases: ARVC ARVC cardiomyopathy ARVD arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia/cardiomyopathy right ventricular ACM	FASN GNPTAB HACD1 IL18R1 PIK3CA PIK3CB PIK3CD PIK3CG	2194 5290 5291 5293 5294 79158 8809 9200	Homo sapiens (human)
DOID:14116	multiple symmetric lipomatosis Aliases: LIPODYSTROPHY, CEPHALOTHORACIC LIPOMATOSIS, FAMILIAL BENIGN CERVICAL Launois-Bensaude's lipomatosis Madelung's neck cervical Symmetrical Lipomatosis multiple symmetrical lipomatosis	ACAN AMACR CEL CPM DCN PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 PTEN PYGM	1056 10908 1368 1634 176 23600 5290 5291 5293 5294 5728 5837	Homo sapiens (human)
DOID:7365	Kimura disease Aliases: Kimura's disease	CD48 FUT4 LGALS9 MLYCD SMUG1	23417 23583 2526 3965 962	Homo sapiens (human)
DOID:2938	Epstein-Barr virus infectious disease Aliases: EBV Infection Epstein-Barr virus infection	PTEN	5728	Homo sapiens (human)
DOID:6652	diffuse idiopathic skeletal hyperostosis Aliases: Ankylosing vertebral hyperostosis DISH Disseminated idiopathic skeletal hyperostosis	CD38 LSS	4047 952	Homo sapiens (human)
DOID:1928	Williams-Beuren syndrome Aliases: Fanconi Schlesinger syndrome WBS	ARSD CACNA2D1	414 781	Homo sapiens (human)
DOID:10241	thalassemia Aliases: Sickle-cell thalassemia with crisis Sickle-cell thalassemia without crisis thalassemia Hb-S disease with crisis thalassemia Hb-S disease without crisis	ABO ACOT7 CD177 CD38 CD55 CHIT1 CHPT1 COL9A2 CPT1A CPT2 CRYL1 CYP2E1 CYP3A4 G6PD H6PD HACD1 HJV HK1 HPGDS LPCAT3 NAAA OGA PC PGD PKD1 PKLR SCD SLC35A2 TNF UGDH UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS VCAM1	10162 10724 1118 11332 1298 1374 1376 148738 1571 1576 1604 2539 27163 27306 28 3098 5091 51084 5226 5310 5313 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 56994 57126 6319 7124 7355 7358 7372 7412 9200 952 9563	Homo sapiens (human)
DOID:0050889	non-syndromic intellectual disability	MAN1B1 TECR	11253 9524	Homo sapiens (human)
DOID:0060407	chromosome 18q deletion syndrome Aliases: 18q- syndrome deletion 18q monosomy 18q	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:3612	retinitis	ACE AGXT AKR1B1 ALDH2 ALDH3A2 ALOX12 B3GAT1 CALR CAT CD44 CD74 CEL CHAT CHI3L1 CTNS CYP1B1 CYP2C19 CYP2C9 DCN DDOST ENPP1 GAD2 GCK GLO1 GLUL GM2A GNPTAB GUSB HADHA HEXB HPSE ICAM1 IDUA ISYNA1 KL LGALS1 NEU1 NYX PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G6 PLA2G7 PLD2 PNPLA2 POMGNT1 PTGS2 RPE SELE SIRT4 SPHK2 ST3GAL4 STS SULT1E1 TM7SF2 VCAM1	1056 10855 1103 1116 142 1497 1545 1557 1559 1634 1636 1650 189 217 224 231 23409 239 2572 2645 27087 2739 2752 2760 2990 3030 3074 3383 3425 3956 412 4758 51477 5167 5290 5291 5293 5294 5338 55624 56848 57104 5743 60506 6120 6401 6484 6783 7108 7412 79158 7941 811 8398 847 9365 960 972	Homo sapiens (human)
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)
DOID:0060067	Pearson syndrome Aliases: Pearson Marrow-Pancreas Syndrome	ACADL ACADVL CHPT1 CPT1A CPT1B CPT2 LPIN1	1374 1375 1376 23175 33 37 56994	Homo sapiens (human)
DOID:11161	neonatal respiratory failure Aliases: respiratory failure of newborn	SFTPC	6440	Homo sapiens (human)
DOID:3910	lung adenocarcinoma Aliases: bronchogenic lung adenocarcinoma nonsmall cell adenocarcinoma	ACLY ACSL4 ADH1C AGRN AKR1A1 AKR1B10 AKR1C2 ALDH1A3 ALDH3A1 ALDOA ALOX12B ALOX5 AMY1A AMY1B AMY1C ANXA5 APRT B4GALT1 CALR CANX CAT CD44 CD74 CEACAM5 CEACAM6 CEACAM7 CLEC10A CLEC14A CNTN1 CPM CTSA CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP2B6 CYP2E1 CYP3A4 CYP3A5 DCN DGKA DHDDS DLD EFNA1 ENO1 ENO2 FASN FOLR2 FUT1 FUT2 FUT3 FUT4 G6PD GAD1 GALK2 GALNT14 GALNT3 GALNT6 GAPDH GBE1 GLB1 GMDS GPC1 GPC3 GPC5 GPI GPX2 GPX3 GUSB HK1 HK2 HMMR HPGDS HPRT1 HPSE HS6ST2 ICAM1 IDH1 IDH2 IDH3A IGF2R ISYNA1 LDHA LDHB LDHC LGALS1 LGALS3 LGALS4 LPCAT1 LPIN1 LPL LYPD5 MCAT MELTF MGLL MICA MMUT MRC1 MTAP NCAM1 OGG1 OLR1 OPCML PAFAH1B1 PARG PARP1 PFKFB3 PIGN PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PKM PLA2G10 PLA2G2A PLAUR PLB1 PLCG1 PMM2 PRKAA2 PRNP PTEN PTGES3 PTGS2 RECK REG1B RGN RTN4R SCD SDC1 SDC2 SELP SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SHMT1 SIRT6 SLC2A10 SLC2A3 SLC2A5 SLC35A4 SLC3A2 SMUG1 SOAT1 SRGN SULF1 SULF2 TIGAR TM7SF2 TNKS TPI1 UGT1A3 UGT2B17 UGT8 VCAM1 XXYLT1	100507436 10327 10462 1048 10728 10855 1087 11226 11343 113829 126 1272 1368 142 151056 152002 1543 1544 1545 1555 1571 1576 1577 1588 1589 1591 1606 161198 1634 1646 1738 1942 2023 2026 218 2182 2194 220 226 2262 23175 23213 2350 23556 23583 240 242 2523 2524 2525 2526 2539 2571 2585 2591 2597 2632 2683 2719 2720 27306 27349 276 2762 277 278 2817 2821 284348 2877 2878 2990 308 3098 3099 3161 3251 3383 3417 3418 3419 3482 353 375790 3939 3945 3948 3956 3958 3960 4023 4241 4360 4507 4594 4680 4684 47 4968 4973 4978 5048 51477 51548 5209 5290 5291 5293 5294 5311 5315 5320 5329 5335 5373 54659 5476 5552 5563 55959 5621 57016 57103 5728 5743 5968 6319 6382 6383 6403 6440 6441 6470 65078 6515 6518 6520 653509 6646 7108 7167 729238 7367 7368 7412 79623 79888 79947 81031 811 821 8399 8434 847 8482 8505 8658 90161 9104 960 972	Homo sapiens (human)
DOID:3488	cellulitis	PIK3CD PLCG2 SLC35A1 SLC35C1	10559 5293 5336 55343	Homo sapiens (human)
DOID:9888	alternating esotropia	COG8	84342	Homo sapiens (human)
DOID:3689	brachial plexus neuritis Aliases: Brachial neuritis Parsonage-Aldren-Turner syndrome	CYP2B6 SMUG1	1555 23583	Homo sapiens (human)
DOID:6255	growth hormone secreting pituitary adenoma Aliases: Growth Hormone Producing adenoma of the Pituitary Somatotroph adenoma growth hormone secreting adenoma of pituitary	KL PKD1 PTGS2 SDHD	5310 5743 6392 9365	Homo sapiens (human)
DOID:8826	colon carcinoma in situ Aliases: carcinoma in situ of colon stage 0 Colonic carcinoma	CEACAM5	1048	Homo sapiens (human)

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