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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 **5526 - 5550** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0111503	Li-Fraumeni syndrome 1 Aliases: LFS1	CD44 CYP19A1 DCN IDH1 PKM PTEN TP53	1588 1634 3417 5315 5728 7157 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060412	chromosome 1q41-q42 deletion syndrome Aliases: 1q41-q42 microdeletion syndrome 1q41q42 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)	DisGeNET DisGeNET
DOID:10024	migraine with aura Aliases: classic migraine	ACE ATP1A2 CAT PMM2	1636 477 5373 847	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	POGLUT1	56983	Homo sapiens (human)	Alliance of Genome Resources
DOID:11330	erysipelas	CAT	847	Homo sapiens (human)	DisGeNET
DOID:0050486	exanthem	ALPP BST2 CD44 CLEC7A CYP27B1 CYP2C9 CYP2E1 ENO1 ENOSF1 ENPP1 GLUL HPGDS IDH1 IDH2 KDSR LACC1 LDHB LGALS3 LGALS9 LYZ PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SDHA SDHB SDHC SDHD SIRT6 SMUG1 TPI1	144811 1559 1571 1594 2023 23583 250 2531 27306 2752 3417 3418 3945 3958 3965 4069 51548 5167 5290 5291 5293 5294 55556 5728 5743 6389 6390 6391 6392 64581 684 7167 960	Homo sapiens (human)	DisGeNET
DOID:0050167	autoimmune polyendocrine syndrome type 1 Aliases: Autoimmune Polyglandular Syndrome I Whitaker syndrome autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy	ADH1A CD1D CLEC7A CYP1A2 CYP2B6 DLAT FCGR3B LYZ VCAM1	124 1544 1555 1737 2215 4069 64581 7412 912	Homo sapiens (human)	DisGeNET
DOID:13664	post-vaccinal encephalitis Aliases: Encephalitis following immunization procedures Postvaccinal encephalomyelitis	CHI3L1	1116	Homo sapiens (human)	DisGeNET
DOID:0080844	omodysplasia 1	GPC6	10082	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060123	connective tissue benign neoplasm Aliases: mesenchymal tissue neoplasm neoplasm of soft tissue neoplasm of soft tissues soft tissue benign neoplasm tumor of the soft tissue	IDH1 IL1R1 NANS OGA SMUG1	10724 23583 3417 3554 54187	Homo sapiens (human)	DisGeNET
DOID:0060221	Maffucci syndrome	EXT1 EXT2 IDH1 IDH2	2131 2132 3417 3418	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110486	autosomal recessive nonsyndromic deafness 28 Aliases: DFNB28 autosomal recessive deafness 28	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)	DisGeNET
DOID:0080087	nonsyndromic congenital nail disorder 9	ALG3 DPM1 EXT2 GPC3 PLOD3	10195 2132 2719 8813 8985	Homo sapiens (human)	DisGeNET
DOID:0110449	dilated cardiomyopathy 1M Aliases: CMD1M	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)	DisGeNET
DOID:3500	gallbladder adenocarcinoma Aliases: adenocarcinoma of the gallbladder	ACE NT5E OGG1 SOAT1	1636 4907 4968 6646	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3341	osteitis fibrosa Aliases: Osteitis fibrosa cystica generalisata Von Recklinghausen's bone disease hyperparathyroid bone disease	ACE G6PD KL OCRL PLCB3 PTGS2 SDHB SMUG1	1636 23583 2539 4952 5331 5743 6390 9365	Homo sapiens (human)	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
DOID:0060588	Noonan syndrome 10 Aliases: NS10	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:12528	lesion of sciatic nerve	CAT CYP11A1 CYP17A1 GFRA1 HSD3B1 ICAM1 MAG RGMA	1583 1586 2674 3283 3383 4099 56963 847	Homo sapiens (human)	DisGeNET
DOID:10124	corneal disease	ADH1B ALDH3A2 CA4 CAT CLC DHDDS ENO1 GALNT14 GPX1 HGSNAT HKDC1 HPSE ICAM1 IDH3A IDH3B LGALS1 LGALS3 NEIL1 NT5E PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG POMGNT1 SFTPA1 SLC2A10 UGCG	10855 1178 125 138050 142 2023 224 2876 3383 3419 3420 3956 3958 4907 5130 5290 5291 5293 5294 55624 653509 7357 762 79623 79661 79947 80201 81031 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:1172	hyperlipoproteinemia type IV Aliases: Endogenous hyperlipidaemia Fredrickson type IV Lipidemia Fredrickson type IV hyperlipoproteinemia Fredrickson type IV lipidaemia VLDL hyperlipoproteinemia familial hypertriglyceridemia	LPL	4023	Homo sapiens (human)	DisGeNET
DOID:14115	toxic shock syndrome Aliases: TSS toxic shock	ACE ENO2 FCGR3B FUT2 HSPG2 MBL2 SELL SLC5A1 TNF	1636 2026 2215 2524 3339 4153 6402 6523 7124	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:305	carcinoma Aliases: epithelial cancer epithelioma malignant Epithelioma	ABO ACACA ACACB ACE ACSL1 ACSL5 ACSM1 ADH1B ADH1C ADH4 ADH5 AGXT AKR1B10 AKR1B1 AKR1C3 ALDH2 ALDH3A1 ALDH5A1 ALDH7A1 ALDOA ALOX15 ALOX15B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ARSA ASAH1 ATP6AP2 B3GAT1 B4GALNT2 BAAT C1GALT1 CACNA2D3 CALR CAT CBR1 CD109 CD14 CD1D CD248 CD33 CD38 CD44 CD55 CD74 CDH13 CDS1 CEACAM5 CEACAM6 CEACAM7 CERS2 CHGA CHPT1 COLEC10 CPT1A CPT2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27B1 CYP2E1 CYP3A5 CYP3A7 CYP4F3 DAG1 DBT DCN DCXR DHCR24 DHDH ECI1 EFNA1 ENO1 ENO2 ENPP1 ENPP3 FASN FBP1 FCGR3B FH FOLR1 FUT1 FUT3 FUT4 FUT6 G6PC1 GALNT3 GALNT6 GAPDH GCNT1 GGT1 GLB1 GLO1 GLUL GOLPH3 GPC3 GPLD1 GPX2 GPX3 GUSB HAGH HAS1 HAS2 HAS3 HK2 HMGCS2 HMMR HPGDS HPSE HSD17B12 HSD17B7 HSD3B1 HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 IDH1 IDH2 INPP4B ITLN1 KLRK1 L1CAM LDHA LDHB LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LMAN1 LPCAT1 LPIN1 LPL LY6K LY75 LYPD5 LYPLA1 MAN2C1 MBD4 MCAT MDH2 MELTF MGAT5 MICA MINPP1 MMP25 MPG MRC1 MSLN MTAP MUTYH NAMPT NCAM1 NEIL1 NEU1 NEU3 NT5E NTHL1 OGG1 OPCML PARP1 PDHA1 PDIA3 PFKM PGAM1 PGK1 PGP PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G6 PLAUR PLCD1 PLCE1 PLCG1 PLD1 PLD2 PLPP2 PNP POFUT1 PPP1R3A PRKAA2 PRNP PRPS1 PSMD10 PTEN PTGDS PTGES3 PTGES PTGS1 PTGS2 PYGM QTRT1 RECK SCD SDC1 SELE SEMA7A SFTPC SHMT1 SIGLEC12 SIGLEC9 SIRT2 SIRT6 SLC2A2 SLC35A2 SMC3 SMUG1 SPAM1 SPHK1 SPHK2 SRGN ST3GAL4 ST3GAL6 ST6GAL1 ST8SIA4 STS SULF1 SULF2 SULT1E1 TKT TKTL1 TM7SF2 TNKS TYMP UGCG UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B7 UMPS VCAN VTCN1	100507436 1012 10135 10159 10232 1040 10402 10434 1048 10584 10728 10825 10855 1087 1113 11226 116285 124872 125 126 127 128 128869 135228 1374 1376 142 1462 1543 1544 1545 1551 1571 1577 1586 1588 1591 1594 1604 1605 1629 1632 1634 1636 1718 189 1890 1942 2023 2026 217 218 2180 2194 2203 2215 226 2271 22914 22933 231 23175 23213 2348 23509 23583 23600 240 246 247 248 250 2523 2525 2526 2528 2538 2591 2597 2650 2678 27087 27180 2719 2720 27294 27306 27349 2739 2752 28 2822 283871 284348 2877 2878 2923 2990 29956 3029 3036 3037 3038 307 308 3099 31 3158 3161 32 3283 3339 3373 3383 3417 3418 353 3897 3939 3945 3956 3958 3960 3964 3965 3998 4023 4051 4065 410 412 4123 4191 4241 4249 427 4350 4360 4507 4595 4680 4684 4758 4860 4907 4913 4968 4978 501 51144 51181 51196 51478 51548 5160 5167 5169 51703 5213 5223 5230 5289 5290 5291 5293 5294 5315 5319 5320 5329 5333 5335 5337 5338 54575 54576 54577 54578 54579 54600 54657 54658 54659 54742 5506 5552 55600 5563 55799 55959 5621 5631 56848 56886 56913 56994 570 57016 57124 5716 5728 5730 5742 5743 5837 6319 6382 6401 64083 64386 6440 6470 6480 6484 6514 6677 6783 7086 7108 7355 7357 7364 7372 7903 7915 79661 79679 79888 811 81890 8277 8372 8398 8434 847 8482 8612 8644 8658 8692 873 8821 8877 8930 89858 912 9126 929 945 952 9536 9562 960 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0112072	nuclear type mitochondrial complex I deficiency 20 Aliases: ACAD9 deficiency Acyl-CoA dehydrogenase 9 deficiency MC1DN20 mitochondrial complex 1 deficiency due to ACAD9 deficiency	ACADL	33	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070111	Niemann-Pick disease type A	CHIT1 GBA1 SMPD1	1118 2629 6609	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET DisGeNET Alliance of Genome Resources

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