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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 **11626 - 11650** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0112358	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Aliases: SSFSC	SCUBE3	222663	Homo sapiens (human)	Alliance of Genome Resources
DOID:12554	hemolytic-uremic syndrome Aliases: haemolytic-uraemic syndrome hemolytic uremic syndrome	C1GALT1C1 CCL2 CD36 CD46 CFH F2 HP IL1RL1 IL1RN MBL2 PLA2G7 PLAT	2147 29071 3075 3240 3557 4153 4179 5327 6347 7941 9173 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081270	Smith-McCort dysplasia 1	DYM	54808	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080318	megalencephalic leukoencephalopathy with subcortical cysts 2A	HEPACAM	220296	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050704	childhood electroclinical syndrome	CACNA1A	773	Homo sapiens (human)	Alliance of Genome Resources
DOID:6171	uterine carcinosarcoma Aliases: mixed mullerian sarcoma of uterus	KIT	3815	Homo sapiens (human)	Alliance of Genome Resources
DOID:1417	choroid disease	IL10	3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112129	severe congenital neutropenia 7 Aliases: SCN7 autosomal recessive severe congenital neutropenia due to CSF3R deficiency	CSF3R	1441	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080695	Burn-McKeown syndrome Aliases: Choanal atresia - deafness - cardiac defects - dysmorphism syndrome	TXNL4A	10907	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080612	anterior segment dysgenesis 7	PXDN	7837	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110248	cataract 30 Aliases: CTRCT30 Dusty cataract cataract 30 pulverulent cataract Coppock-like	VIM	7431	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112237	lissencephaly 1 Aliases: LIS1 PAFAH1B1-related lissencephaly	PAFAH1B1	5048	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080871	primary ovarian insufficiency 14	GDF9	2661	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050890	synucleinopathy Aliases: Synucleinopathies alpha Synucleinopathies	DCTN1 KIF1B LRRK2	120892 1639 23095	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112248	17-beta hydroxysteroid dehydrogenase 3 deficiency Aliases: 17-KSR deficiency 17-beta-hydroxysteroid dehydrogenase 3 deficiency 17-ketoreductase deficiency 17-ketosteroidreductase deficiency 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency male pseudohermaphroditism with gynecomastia neutral 17-beta-hydroxysteroid oxidoreductase deficiency	HSD17B3	3293	Homo sapiens (human)	Alliance of Genome Resources
DOID:2871	endometrial carcinoma Aliases: carcinoma of the Endometrium endometrioid carcinoma endometrioid carcinoma of female Reproductive system	APC AURKB BSG CD82 CDH13 ERAP1 FGF7 GRB2 GSK3B HDAC3 HRAS JUN MMP8 MMP9 NCOA1 NCOR2 NOS3 POLE PRKCA PTGS1 PTK2 RUNX3 SFN SMAD4 SPARC TFF1 TIMP1 TP53 WNT2 WNT4 WNT5A	1012 2252 2810 2885 2932 324 3265 3725 3732 4089 4317 4318 4846 51752 5426 54361 5578 5742 5747 6678 682 7031 7076 7157 7472 7474 864 8648 8841 9212 9612	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type Aliases: combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX mental retardation, X-linked 3 methylmalonic aciduria with homocystinuria, type cblX	HCFC1	3054	Homo sapiens (human)	Alliance of Genome Resources
DOID:161	keratosis	CAT MPO	4353 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:6419	tetralogy of Fallot Aliases: Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle	BMP10 CFC1B DNAH5 DOCK1 FGF8 GATA4 HIRA INVS JAG1 MTHFD1 NRP1 NTF3 PHC1 POPDC1 PTPN11	11149 1767 1793 182 1911 2253 2626 27130 27302 4522 4908 5781 653275 7290 8829	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111954	immunodeficiency 60 Aliases: BACH2-related immunodeficiency and autoimmunity BRIDA IMD60	BACH2	60468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060653	lethal congenital contracture syndrome 3 Aliases: Israeli Bedouin type B multiple contracture syndrome	PIP5K1C	23396	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111349	hereditary desmoid disease Aliases: FIF familial infiltrative fibromatosis	APC	324	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081243	rhizomelic chondrodysplasia punctate type 4	FAR1	84188	Homo sapiens (human)	Alliance of Genome Resources
DOID:5844	myocardial infarction Aliases: Myocardial infarct heart attack	ACE2 ACE ADAMTS1 ADD1 ADIPOQ ADRB1 ADRB2 AGER AGT AGTR1 AHSG AIMP1 AKT1 ALDH2 ANGPT1 ANGPT2 ANXA5 APEX1 APOA1 APOA4 APOC3 APOE APOH AVPR1A BDKRB1 BDKRB2 BRINP3 C3 C7 C8A C8B CACYBP CAMK2D CASR CAT CCL2 CCL5 CCN2 CCR2 CCR3 CD14 CD36 CD40LG CD59 CDKN1B CFL1 CHI3L1 CIITA CLU COL1A1 COL3A1 COL4A1 COL6A3 CS CSF2 CSF3 CSNK2A1 CSNK2A3 CTLA4 CTSB CYBB CYP11B1 CYP1B1 CYP2J2 CYP2R1 DAB2 DAG1 DCN DVL1 DYRK1A ECE1 EDN1 EDN2 EDNRA EDNRB EPAS1 EPHB1 EPO EPOR ERBB2 ERBB4 ESR1 F12 F13A1 F2 F3 F5 F7 FGB FLT1 FN1 FOS FTO FZD2 G6PD GATA4 GCLC GP1BA GP6 GPX1 GSK3B GSN HADH HFE HGF HIF1A HMGB1 HP HSD11B2 HSPD1 ICAM1 IGF1R IL10 IL17A IL18BP IL4R IL6R INHBA ITGA2 ITGA3 ITGB1 ITGB3 ITIH4 KCNK2 KCNN4 KDM6A KDR KLK1 LAMP2 LCAT LGALS2 LIPG LPA LPL LRP1 LRP8 LRPAP1 LTA MAP3K7 MDH2 MDK MEF2C MIF MLXIPL MMP13 MMP14 MMP1 MMP2 MMP3 MMP9 MTOR MYH7 NCAM1 NFE2L2 NGF NOS2 NOS3 NPPA NPPB NPR1 NR1H3 NRG1 OLR1 OPA1 OPRD1 OPRK1 PAPPA PCSK2 PDE5A PDGFD PEBP1 PECAM1 PGF PLA2G7 PLAT PLAU PLAUR PLCB1 PLCB3 PON1 POSTN PPARA PPARGC1A PROC PSMA6 PTGIS PTGS2 RAD50 RANBP1 RBP4 REG1A REG1B REN RPS6KB1 RYR1 SDC1 SDC4 SELP SERPINE1 SHH SIRT1 SIRT3 SMAD4 SOD1 SOD2 SOD3 SPARC SPP1 TBX3 TEK TFPI TGFB1 TGFB2 TGFBR1 TGFBR2 THBS1 TLR4 TNC TNF TNFRSF11B TNFRSF14 TNFRSF1A TNFRSF1B TNFSF11 TNFSF4 TREM1 TRPV1 TTN UTS2R VCAN VDAC2 VEGFA VEGFB VWF YBX1	10062 10068 10111 1027 10631 1072 10891 1116 118 1191 120227 1232 1277 1281 1282 1293 1431 1437 1440 1457 1462 1490 1493 1508 153 1536 154 1545 1573 1584 1601 1605 1634 1636 177 183 185 1855 1859 1889 1906 1907 1909 1910 197 2034 2047 2056 2057 2064 2066 207 2099 2147 2152 2153 2155 2161 2162 217 2244 2321 23236 2335 23410 23411 2353 2475 2535 2539 2626 27101 2729 2811 283106 2837 284 285 2876 2932 2934 3033 3077 308 3082 3084 3091 3146 3240 328 3291 3329 335 337 3371 3383 339479 345 348 3480 350 3566 3570 3586 3605 3624 3673 3675 3688 3690 3700 3776 3783 3791 3816 3920 3931 3957 4018 4023 4035 4043 4049 4089 4191 4192 4208 4261 4282 4312 4313 4314 4318 4322 4323 4625 4684 4780 4803 4843 4846 4878 4879 4881 4904 4973 4976 4982 4985 4986 5037 5054 5069 51085 51206 5126 5175 5228 5327 5328 5329 5331 54210 5444 5465 552 5624 5687 5740 5743 5902 59272 5950 5967 5968 5972 6198 623 624 6261 6347 6352 6382 6385 6403 6469 6647 6648 6649 6678 6696 6885 6926 7010 7035 7040 7042 7046 7048 7057 7099 7124 7132 7133 718 7273 7292 729230 730 731 732 7403 7417 7422 7423 7442 7450 7804 79068 7941 80310 817 846 847 8600 8654 8764 9255 929 9370 9388 948 9510 959 966	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia	HS6ST1	9394	Homo sapiens (human)	Alliance of Genome Resources

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