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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	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **8976 - 9000** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:11934	head and neck cancer Aliases: head and neck neoplasm head and neck tumours head/neck neoplasm tumor of head and neck	CYP1A1 KDM4C	1543 23081	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112145	retinitis pigmentosa 88 Aliases: RP88	RP1L1	94137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090030	corticosteroid-binding globulin deficiency Aliases: CBG deficiency transcortin deficiency	SERPINA6	866	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111333	early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Aliases: EMARDD Myopathy, areflexia, respiratory distress, and dysphagia, early-onset congenital myopathy 10A	MEGF10	84466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070272	hereditary nonpolyposis colorectal cancer type 5 Aliases: HNPCC5	MSH6	2956	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111883	Diamond-Blackfan anemia 5 Aliases: DBA5 RPL35A-related Diamond-Blackfan anemia	RPL35A	6165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060776	congenital diarrhea 5 with tufting enteropathy Aliases: DIAR5 congenital diarrhoea 5 with tufting enteropathy congenital familial intractable diarrhea with epithelial or epithelium abnormalities congenital familial intractable diarrhoea with epithelial or epithelium abnormalities congenital tufting enteropathy tufting enteropathy	EPCAM	4072	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050866	oral squamous cell carcinoma Aliases: mouth squamous cell carcinoma	ABL1 AGAP2 ARID2 ARPC1B ATM AZGP1 BIRC2 BRINP2 BST2 CALR CBX2 CCL2 CCR2 CDC73 CDH1 CHAF1B CLPTM1L CTNND1 CYP1A1 CYP24A1 CYP2E1 DAXX DDR1 DDR2 DOCK6 EGFR ERBB2 ERBB4 EZH2 FAT1 FGFR3 FGFR4 FLT3 FOSL2 GAPDH GSK3B H2AX HP IL10 IL13RA2 IL2 IL6 JUN JUNB KMT2D MET PLAU PLCG1 PRDX2 PTEN PTGIS PTPN13 RELA SERPINE1 SKP2 SLC7A5 TERT TET2 TNF TP53 TTR WNT11	10095 116986 1500 1543 1571 1591 1616 1956 196528 2064 2066 2146 2195 2261 2264 2322 2355 25 2597 2932 3014 3240 329 3558 3569 3586 3598 3725 3726 4233 472 4921 5054 5328 5335 54790 563 5728 5740 57572 57795 5783 5970 6347 6502 684 7001 7015 7124 7157 7276 729230 7481 780 79577 8085 81037 811 8140 8208 84733 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:5015	fibrolamellar carcinoma Aliases: Fibrolamellar hepatocellular carcinoma Hepatocellular carcinoma, fibrolamellar Oncocytic Hepatocellular tumor	CA12 CTNNB1 FGFR1	1499 2260 771	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060864	patterned macular dystrophy 2 Aliases: MDPT2 butterfly-shaped pigmentary maculary dystrophy 2	CTNNA1	1495	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080433	developmental and epileptic encephalopathy 51 Aliases: DEE51 early infantile epileptic encephalopathy 51	MDH2	4191	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070525	peeling skin syndrome 6 Aliases: PSS6	FLG2	388698	Homo sapiens (human)	Alliance of Genome Resources
DOID:13207	proliferative diabetic retinopathy Aliases: PDR	ADIPOQ AGER BCOR CALD1 CALU CAT CCL2 CCN1 COL5A2 COL6A3 CORO1C ENPP2 FLT1 IL6R PDGFB PPARG PTPN1 RBP4 SERPINE1 SERPINF1 SLIT2 SRSF6 TIMM44 VEGFA	10469 1290 1293 177 2321 23603 3491 3570 5054 5155 5168 5176 5468 54880 5770 5950 6347 6431 7422 800 813 847 9353 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:4549	extraskeletal myxoid chondrosarcoma Aliases: Myxoid extraosseous chondrosarcoma extraosseous chondrosarcoma	NR4A3	8013	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110110	atrial heart septal defect 5 Aliases: ASD5 atrial septal defect 5	ACTC1	70	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060868	leukoencephalopathy with vanishing white matter Aliases: CACH CACH/VWM childhood ataxia with central nervous system hypomyelination vanishing white matter leukodystrophy	EIF2B1 EIF2B4	1967 8890	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060571	Ritscher-Schinzel syndrome 1	WASHC5	9897	Homo sapiens (human)	Alliance of Genome Resources
DOID:2352	hemochromatosis Aliases: Haemochromatosis diabetes bronze iron storage disorder	B2M HFE HJV TFR2 TNF	148738 3077 567 7036 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:14330	Parkinson's disease Aliases: Parkinson disease paralysis agitans	A2M AAK1 ABL1 ACHE ACO2 ADCY5 ADH7 AFDN AGTR1 AKT1 AKT2 AKT3 ANXA5 APOA1 APOE ATG9A ATG9B ATM ATP13A2 ATP13A3 ATP13A5 B2M BDNF BMP2K CALR3 CALR CASP9 CAST CCK CCN2 CHRNB3 CREB1 CYP1A1 DBH DBN1 DLG1 DNAJC13 DNM1L DRD1 DRD2 DRD3 DRD5 EGF EGFR EIF2AK2 EIF4G1 EIF4G2 EIF4G3 EPHX2 EPO ERBB2 FAS FASLG FBXO7 FDXR FOXO1 FOXO3 FOXO4 GAK GBA1 GDF5 GDNF GIGYF2 GJC2 GLRX GPI GPR37 GRK3 GRN GSK3B GSTO1 GSTO2 HBB HCN3 HDAC6 HIPK1 HIPK2 HIPK3 HLA-DRA HLA-DRB1 HMGCR HSF1 HSPA4 HSPA8 HSPA9 HSPD1 HTR1A HTT IGF1R IGF2 INSR INSRR KLK6 LEP LRRK1 LRRK2 MAP2K3 MAP2K6 MAPK14 MAPK9 MAPT MINAR2 MXI1 ND3 NDUFB8 NEFL NGFR NOS1 NOX1 NPBWR1 NPBWR2 NR4A1 NTSR1 NUS1 OGG1 OPRD1 OPRK1 OPRL1 OPRM1 OPTN PAK4 PAK5 PARK7 PARP1 PGK1 PGK2 PHACTR2 PINK1 PISD PLA2G6 PPARGC1A PPARGC1B PPP1R9B PPRC1 PRKAA1 PRKAA2 PRLHR PTCH1 PTCH2 PTGIS PTPRN2 PTPRN RTCB SDHA SEC22B SERPINF1 SIRT1 SLC11A2 SLC17A6 SLC17A8 SLC18A2 SLC40A1 SNCA SNCB SNCG SOD1 SOD2 SPCS2 SRRM2 SSTR1 SSTR2 SSTR3 SSTR4 SSTR5 SYNJ1 SYNJ2 TARDBP TFAM TOR1A TOR1B TOR2A TOR3A TPPP3 TPPP TSPAN3 TSPAN7 VDAC1 VPS13A VPS13C YIF1B	10000 100127206 10013 10059 10099 10114 10133 10298 10891 11076 111 11315 1142 116150 119391 120892 125972 131 133522 1385 142 1432 1490 1543 157 1621 1627 1739 1812 1813 1814 1816 185 1861 1950 1956 1981 1982 2 204851 2053 2056 2064 207 208 2232 22848 2308 23082 2309 23230 23317 23400 23411 23435 23524 23761 246213 25 25793 2580 26058 2629 2668 27035 27348 27433 2745 2821 2831 2832 2834 285973 2861 2896 28996 2932 30061 3043 3064 308 3122 3123 3156 3164 3297 3308 3312 3313 3329 335 3350 344905 348 3480 3481 355 356 3643 3645 3952 4137 43 4301 4303 4537 4601 4714 472 4747 4804 4842 4891 4923 4968 4985 4986 4987 4988 50 51493 51673 5176 5230 5232 54832 55589 5562 5563 5601 5606 5608 5610 5653 567 57084 57144 57165 5727 5740 57657 5798 5799 627 6389 64222 65018 6571 6620 6622 6623 6647 6648 6751 6752 6753 6754 6755 7019 7102 7416 79065 79572 79705 811 8200 831 8398 842 84687 8643 8672 885 8867 8871 90522 9446 9554 9749 9789	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060558	lethal congenital contracture syndrome	ADCY6 ADGRG6 CNTNAP1 DNM2 GLDN NEK9	112 1785 342035 57211 8506 91754	Homo sapiens (human)	Alliance of Genome Resources
DOID:1573	communicating hydrocephalus	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110735	neurodegeneration with brain iron accumulation 2a Aliases: INAD1 Infantile Neuroaxonal Dystrophy 1 NBIA2a Neurodegeneration, Pla2g6-Associated Seitelberger Disease	PLA2G6	8398	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050169	cutaneous lupus erythematosus	CCR3 CD40 CD40LG IL17A	1232 3605 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:3717	gastric adenocarcinoma Aliases: adenocarcinoma of stomach stomach adenocarcinoma	ABCA13 ALX4 AMIGO2 APOC3 ARID1A CAT CD44 CDK12 GPX1 HLA-DQA1 HNRNPA0 IL6 KMT2D MAP2K4 MAPK14 PLCE1 POLE PTPN13 PTPRA PTPRZ1 RAC1 RNASET2 RNF43 SLC7A5 STAT1 STAT5A STAT5B STAT6 TP53 UBR5 XPO1	10949 1432 154664 2876 3117 345 347902 3569 51196 51366 51755 5426 54894 5783 5786 5803 5879 60529 6416 6772 6776 6777 6778 7157 7514 8085 8140 8289 847 8635 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:1340	pure red-cell aplasia Aliases: Red cell hypoplasia primary red cell aplasia pure red cell aplasia	HLA-DQB1 HLA-DRB1	3119 3123	Homo sapiens (human)	Alliance of Genome Resources

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