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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **51 - 75** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0110225	Brugada syndrome 8 Aliases: BRGDA8	HCN4	10021	Homo sapiens (human)	Alliance of Genome Resources
DOID:3070	high grade glioma Aliases: Neuroglial tumor glial cell tumor glioma, malignant malignant Neuroglial tumor malignant glioma	ATRX BRCA2 CCN1 CHAF1A CYP2E1 DCN EGF ENTPD2 EPO EPOR ERBB2 ERCC5 FLT3LG IDH1 IGF1R IL10 IL2 KDM5B LTA MAP2K1 NADSYN1 NF1 PDGFA PDGFB PRKCA PTEN SH3GL1 SLC44A1 SOX6 TNF TP53 XRCC1	10036 10765 1571 1634 1950 2056 2057 2064 2073 2323 23446 3417 3480 3491 3558 3586 4049 4763 5154 5155 546 55191 55553 5578 5604 5728 6455 675 7124 7157 7515 954	Homo sapiens (human)	Alliance of Genome Resources
DOID:769	neuroblastoma	ARID1A ARID1B CHAF1A IGF1R KIF1B NME1 NSD1 PECAM1	10036 23095 3480 4830 5175 57492 64324 8289	Homo sapiens (human)	Alliance of Genome Resources
DOID:10892	hypospadias Aliases: familial hypospadias	AR CYP1A1 HSD3B2 MAMLD1 SRD5A2	10046 1543 3284 367 6716	Homo sapiens (human)	Alliance of Genome Resources
DOID:8778	Crohn's disease Aliases: Crohn disease Crohn's disease of colon Crohn's disease of large bowel Granulomatous Colitis Pediatric Crohn's disease	ABCB1 BPI CD40 CLDN1 FCGR2A FCGR3A GC HFE HLA-DPA1 HLA-DQB1 ICAM1 IL10 IL21R IL23R IL6 LRRK2 MBL2 MKI67 NOD2 OCLN PRF1 SELL SLC11A1 SLC22A5 STAT3 UGT1A1	100506658 120892 149233 2212 2214 2638 3077 3113 3119 3383 3569 3586 4153 4288 50615 5243 54658 5551 6402 64127 6556 6584 671 6774 9076 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050656	pseudo-TORCH syndrome 1 Aliases: BLC-PMG BLCPMG Baraitser-Brett-Piesowicz syndrome Baraitser-Reardon syndrome PTORCH1 band-like calcification with simplified gyration and polymicrogyria bilateral band-like calcification with polymicrogyria microcephaly-intracranial calcification-intellectual disability syndrome	OCLN	100506658	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060304	dyschromatosis universalis hereditaria	ABCB6	10058	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111438	optic atrophy 5 Aliases: OPA5	DNM1L	10059	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070347	encephalopathy due to defective mitochondrial and peroxisomal fission 1	DNM1L	10059	Homo sapiens (human)	Alliance of Genome Resources
DOID:12930	dilated cardiomyopathy Aliases: primary dilated cardiomyopathy	ABCC9 ACTC1 APOE CAP2 CDK8 CS DES DMD DSG2 DSP EMD EYA4 FKRP GPX1 HFE HLA-DQB1 LDB3 LEPR LMNA MEF2A MMP1 MYH7 NEBL NFATC4 PRKCA RBM20 RBPJ SOD2 SP4 TNNI3 TTN VCL VEZF1	10060 1024 10486 10529 11155 1431 1674 1756 1829 1832 2010 2070 282996 2876 3077 3119 348 3516 3953 4000 4205 4312 4625 4776 5578 6648 6671 70 7137 7273 7414 7716 79147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050650	familial atrial fibrillation Aliases: ATFB	ABCC9 KCNE2 KCNQ1 NPPA NUP155 SCN1B SCN2B SCN5A ZFHX3	10060 3784 463 4878 6324 6327 6331 9631 9992	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060569	hypertrichotic osteochondrodysplasia Cantu type Aliases: Cantu syndrome	ABCC9	10060	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110451	dilated cardiomyopathy 1O Aliases: CMD1O dilated cardiomyopathy with ventricular tachycardia	ABCC9	10060	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070600	intellectual disability and myopathy syndrome Aliases: ABCC9-related intellectual disability and myopathy AIMS IDMYS	ABCC9	10060	Homo sapiens (human)	Alliance of Genome Resources
DOID:5844	myocardial infarction Aliases: Myocardial infarct heart attack	ACE ADD1 ADRB2 AGER AGT AGTR1 ALDH2 ANXA5 APEX1 APOA1 APOA4 APOE APOH BRINP3 CCL2 CCR2 CD14 CIITA CLU COL4A1 COL6A3 CSF3 CTLA4 CYP2J2 CYP2R1 EPO ESR1 F12 F13A1 F2 F5 F7 FGB FTO GCLC GP1BA GP6 HFE HGF HIF1A HP IL10 IL18BP ITGA2 ITGB3 ITIH4 KCNN4 KDR KLK1 LGALS2 LIPG LPA LPL LRP1 LRP8 LRPAP1 LTA MLXIPL MMP14 MMP1 MMP3 MMP9 NGF NOS3 NPPA NPPB NPR1 NR1H3 NRG1 OLR1 PAPPA PCSK2 PECAM1 PGF PLAT PLAU PON1 PPARA PSMA6 PTGIS PTGS2 SELP SERPINE1 SOD1 SOD3 SPP1 TFPI TGFB1 TLR4 TNFSF4 VEGFB	10062 10068 118 1191 120227 1282 1293 1440 1493 154 1573 1636 177 183 185 2056 2099 2147 2153 2155 2161 2162 217 2244 2729 2811 3077 308 3082 3084 3091 3240 328 335 337 339479 348 350 3586 3673 3690 3700 3783 3791 3816 3957 4018 4023 4035 4043 4049 4261 4312 4314 4318 4323 4803 4846 4878 4879 4881 4973 5054 5069 51085 51206 5126 5175 5228 5327 5328 5444 5465 5687 5740 5743 6347 6403 6647 6649 6696 7035 7040 7099 7292 729230 7423 7804 79068 929 9388	Homo sapiens (human)	Alliance of Genome Resources
DOID:3526	cerebral infarction Aliases: CVA - Cerebral infarction Cerebral infarct	ACE APOA5 APOE CBS F2 F5 F7 FOLH1 GPX3 GRIN1 HLA-A HLA-B HLA-DRB1 HNF1A IFNB1 ITGA9 KALRN KCNN4 LIPG LTA MTR MYRF NR1H3 NTRK2 PARK7 PDX1 PON1 PON2 PRKCH PROS1 PTGIS SERPING1 TBXAS1 THBD TNF TOMM40 TYMS	10062 10452 11315 116519 1636 2147 2153 2155 2346 2878 2902 3105 3106 3123 3456 348 3651 3680 3783 4049 4548 4915 5444 5445 5583 5627 5740 6916 6927 7056 710 7124 7298 745 875 8997 9388	Homo sapiens (human)	Alliance of Genome Resources
DOID:9970	obesity	ABCA1 ABCG8 ADRB2 ADRB3 AGT APOD AR BBS2 CADM2 CAPN10 CCKAR CNR1 COMT CPE CRHR1 CYP27B1 CYP2R1 DRD2 EDN1 ENPP1 F7 FTO GFPT1 GHRL GHSR GIPR GLP1R GNAS HFE HK1 HK2 HSD11B2 HSPA1B HTR2A HTR2C IGFBP2 IGFBP6 IL6 IL6R INPPL1 LEPR MBL2 MC3R MC4R MIF NCOA3 NMB NMU NPPB NPY2R NPY5R NR1H3 NR3C1 OPRM1 PCSK1 PDP1 PGR PLIN1 POMC PPARG PPARGC1B SDC3 SERPINF1 SLC2A1 SLC6A14 SLC6A3 SOCS3 SORBS1 STAT3 UCP2 UCP3 WNT10B	10062 10580 10874 11132 11254 120227 1268 1312 133522 1363 1394 154 155 1594 1813 183 19 1906 2155 253559 2673 2693 2696 2740 2778 2908 3077 3098 3099 3291 3304 3356 3358 347 3485 3489 3569 3570 3636 367 3953 4153 4159 4160 4282 4828 4879 4887 4889 4988 5122 5167 51738 5176 5241 5346 5443 5468 54704 583 64241 6513 6531 6774 7351 7352 7480 79068 8202 886 9021 9672	Homo sapiens (human)	Alliance of Genome Resources
DOID:6713	cerebrovascular disease Aliases: CVA cerebrovascular disorder stroke	AGT AGTR1 APOE G6PD GLCE LMNA NR1H3 P2RY12 SELE	10062 183 185 2539 26035 348 4000 6401 64805	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060811	syndromic X-linked intellectual disability Turner type Aliases: Brooks-Wisniewski-Brown syndrome MRXST X-linked intellectual disability, Brooks type mental retardation and macrocephaly syndrome mental retardation, X-linked syndromic, Turner type	HUWE1	10075	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080844	omodysplasia 1	GPC6	10082	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060179	Renpenning syndrome Aliases: Golabi-Ito-Hall syndrome Sutherland-Haan X-linked mental retardation syndrome X-linked intellectual disability due to PQBP1 mutations X-linked intellectual disability, Renpenning type X-linked mental retardation Renpenning type X-linked mental retardation with spastic diplegia syndromic X-linked mental retardation 8	PQBP1	10084	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081074	Teebi hypertelorism syndrome 2	CDH11	1009	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080631	Elsahy-Waters syndrome Aliases: branchioskeletogenital syndrome	CDH11	1009	Homo sapiens (human)	Alliance of Genome Resources
DOID:1094	attention deficit hyperactivity disorder Aliases: ADHD attention deficit disorder hyperkinetic disorder	ADRA2A AR BAIAP2 CALY COMT DBH DOCK3 DRD4 DRD5 FOXP2 GIT1 GRM8 HMGCR HTR1B SLC6A3 SLC6A4 TPH1 UST	10090 10458 1312 150 1621 1795 1815 1816 28964 2918 3156 3351 367 50632 6531 6532 7166 93986	Homo sapiens (human)	Alliance of Genome Resources
DOID:612	primary immunodeficiency disease Aliases: hypoimmunity immune deficiency disorder immunodeficiency syndrome	ARPC5 CARD10 CARD9 CD8A CTLA4 CTNNBL1 FADD FCHO1 FNIP1 IFNAR1 IKZF3 IL2 IL6ST IL7R IRAK4 LIG1 MCM10 MCTS1 MPEG1 MYD88 OAS1 OTULIN PIK3CG PTPRC REL SLC19A1 SPPL2A STK4 SYK TET2 TLR3 TLR8 TNFRSF9 TPP2 ZNFX1	10092 1493 219972 22806 23149 28985 29775 3454 3558 3572 3575 3604 3978 4615 4938 51135 51311 5294 54790 55388 56259 57169 5788 5966 64170 6573 6789 6850 7098 7174 84888 8772 90268 925 96459	Homo sapiens (human)	Alliance of Genome Resources

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