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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 **3701 - 3725** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:2115	B cell deficiency Aliases: B cell (antibody) deficiencies Immunoglobulin heavy chain deficiency immunoglobulin heavy chain deletion	TOP2A TOP2B	7153 7155	Homo sapiens (human)	Alliance of Genome Resources
DOID:2121	ectodermal dysplasia Aliases: Congenital ectodermal defect Congenital ectodermal dysplasia	KRT17 NECTIN1 WNT10A	3872 5818 80326	Homo sapiens (human)	Alliance of Genome Resources
DOID:2129	atypical teratoid rhabdoid tumor Aliases: Atypical teratoid/rhabdoid tumor Atypical teratoid/rhabdoid tumour Rhabdoid tumor of the CNS Rhabdoid tumour of the CNS atypical teratoid rhabdoid tumour	GPC3 SMARCB1	2719 6598	Homo sapiens (human)	Alliance of Genome Resources
DOID:2152	ovary epithelial cancer Aliases: Ovarian Surface epithelial-Stromal tumor	AKAP6 ASPM BRD7 CCR3 DAXX FUBP1 KIF1B NME1 PLK1 PLK3 PTGES RUNX3 SPARC SRSF3 TAB2	1232 1263 1616 23095 23118 259266 29117 4830 5347 6428 6678 864 8880 9472 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:2154	nephroblastoma Aliases: adult nephroblastoma	ABCB1 APOC3 BMP7 BRCA2 CD44 CDKN1B CTNNB1 CXCR2 ERBB2 FLT1 FZD7 GPC3 HIF1A IGF1R IGF2R JUP KDM4D KIT LIN28A MYC PAK1 PCNA PTGS2 REST SERPINF1 SIX1 SLC2A1 STAT1 STAT3 TERT TOP2A VEGFC WIF1	1027 11197 1499 2064 2321 2719 3091 345 3480 3482 3579 3728 3815 4609 5058 5111 5176 5243 55693 5743 5978 6495 6513 655 675 6772 6774 7015 7153 7424 79727 8324 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:2156	ovarian germ cell cancer Aliases: germ cell neoplasm of Ovary germ cell tumor of ovary	SALL4	57167	Homo sapiens (human)	Alliance of Genome Resources
DOID:216	dental caries Aliases: Dental caries extending into pulp Dental caries of smooth surface Dental caries pit and fissure	BCOR HLA-DQB1	3119 54880	Homo sapiens (human)	Alliance of Genome Resources
DOID:218	ascending colon cancer Aliases: Ca ascending colon malignant neoplasm of right colon malignant tumor of ascending colon	POLE RNF43	5426 54894	Homo sapiens (human)	Alliance of Genome Resources
DOID:2187	amelogenesis imperfecta	FAM20C	56975	Homo sapiens (human)	Alliance of Genome Resources
DOID:219	colon cancer	ACTR1A ACVR2A AKT1 AKT3 APC ARID1A ATR AZGP1 BAD BRCA1 BRD4 CALR CASP7 CBS CCL2 CHAF1A CHKA CHUK COL6A3 CRIPTO CYP24A1 CYP2E1 EZH2 FGFR4 GPX1 GSK3B HS3ST2 HSP90AA1 IKBKB IL10 IL7R JUNB KDM3A LCN2 LGALS3 LIF LRP1B MAP2K3 MAPK14 MKI67 MLH1 MMP3 MRE11 MSH2 MTOR MUC2 NCOA6 NF1 PLCG1 PPARG PRKAA1 PTEN PTGER3 PTPN13 REG1A REG1B RICTOR RNF43 RPS6KB1 SLC7A5 SLCO1B3 SMAD4 SMO SRC STAT3 TGFB1 TGFB3 TGFBR2 TNFAIP3 TNFRSF10A TNFRSF10B TNFRSF10C TNFRSF10D UBR5 VEGFA WNT5A	10000 10036 10121 1119 1147 1293 1432 1571 1591 207 2146 2264 23054 23476 2475 253260 28234 2876 2932 324 3320 3551 3575 3586 3726 3934 3958 3976 4089 4288 4292 4314 4361 4436 4583 4763 51366 5335 53353 545 5468 54894 5562 55818 5606 563 572 5728 5733 5783 5967 5968 6198 6347 6608 6714 672 6774 6997 7040 7043 7048 7128 7422 7474 811 8140 8289 840 875 8793 8794 8795 8797 92 9956	Homo sapiens (human)	Alliance of Genome Resources
DOID:2211	factor XIII deficiency Aliases: Factor XIII deficiency disease Hereditary factor XIII deficiency disease deficiency, Laki-Lorand factor	F13A1 LMAN1	2162 3998	Homo sapiens (human)	Alliance of Genome Resources
DOID:2215	factor VII deficiency Aliases: deficiency, stable	F7	2155	Homo sapiens (human)	Alliance of Genome Resources
DOID:2216	factor V deficiency Aliases: Hereditary hypoproaccelerinaemia Labile factor deficiency Proaccelerin deficiency deficiency, labile	F5 LMAN1 TFPI	2153 3998 7035	Homo sapiens (human)	Alliance of Genome Resources
DOID:2217	Bernard-Soulier syndrome Aliases: Bernard - Soulier thrombopathy Bernard Soulier syndrome Giant platelet syndrome Hemorrhagic dystrophic thrombocytopenia Thrombopathy, Bernard-Soulier	GP1BA GP1BB GP9 VWF	2811 2812 2815 7450	Homo sapiens (human)	Alliance of Genome Resources
DOID:2218	blood platelet disease Aliases: Thrombocytopathy platelet disorder	CD36 EPHB2 FLI1 GP6 ITGB3 TBXA2R TPM4	2048 2313 3690 51206 6915 7171 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:2219	Glanzmann's thrombasthenia Aliases: BDPLT2 Glanzmann thrombasthenia Glycoprotein IIb/IIIa defect Thrombocytasthenia deficiency of GP IIb-IIIa complex deficiency of glycoprotein complex IIb-IIIa deficiency of platelet fibrinogen receptor platelet glycoprotein IIb-IIIa deficiency platelet-type bleeding disorder 2 thrombasthenia of Glanzmann and Naegeli	ITGA2 ITGA2B ITGB3	3673 3674 3690	Homo sapiens (human)	Alliance of Genome Resources
DOID:2222	factor X deficiency Aliases: disease, Stuart-Prower	F10	2159	Homo sapiens (human)	Alliance of Genome Resources
DOID:2223	platelet storage pool deficiency Aliases: Dense body defect Platelet dense granule deficiency Platelet storage pool defect	AP3B1 DOCK7 DTNBP1 LYST SLC7A11	1130 23657 84062 85440 8546	Homo sapiens (human)	Alliance of Genome Resources
DOID:2224	essential thrombocythemia Aliases: Essential thrombocythaemia familial thrombocytosis hemorrhagic thrombocythemia hereditary thrombocythemia primary Thrombocytosis	CALR CD36 CD40LG ELANE MPL THPO VCAM1 VWF	1991 4352 7066 7412 7450 811 948 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:2226	myeloproliferative neoplasm Aliases: CMPD CMPD, U chronic myeloproliferative disease	ASXL1 CBL CSF3R PDGFRB TET2	1441 171023 5159 54790 867	Homo sapiens (human)	Alliance of Genome Resources
DOID:2228	thrombocytosis Aliases: Thrombocythaemia	CALR CPB2 MPL THPO	1361 4352 7066 811	Homo sapiens (human)	Alliance of Genome Resources
DOID:2229	factor XI deficiency Aliases: Congenital factor XI deficiency Hereditary factor XI deficiency disease Rosenthal's disease hemophilia C plasma thromboplastin antecedent deficiency	F11	2160	Homo sapiens (human)	Alliance of Genome Resources
DOID:2231	factor XII deficiency Aliases: Factor XII deficiency disease Hageman Factor deficiency deficiency, Hageman	F12	2161	Homo sapiens (human)	Alliance of Genome Resources
DOID:2234	focal epilepsy Aliases: localisation-related epilepsy partial epilepsy	CNR1 DEPDC5 MMP9	1268 4318 9681	Homo sapiens (human)	Alliance of Genome Resources
DOID:2235	prothrombin deficiency Aliases: Congenital factor II deficiency Hereditary factor II deficiency disease hypoprothrombinemia	F2 F7	2147 2155	Homo sapiens (human)	Alliance of Genome Resources

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