GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1051 - 1075** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
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: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: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: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:2215	factor VII deficiency Aliases: deficiency, stable	F7	2155	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: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:2187	amelogenesis imperfecta	FAM20C	56975	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: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: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: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: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: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:2121	ectodermal dysplasia Aliases: Congenital ectodermal defect Congenital ectodermal dysplasia	KRT17 NECTIN1 WNT10A	3872 5818 80326	Homo sapiens (human)	Alliance of Genome Resources
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:2106	myotonia congenita Aliases: Batten Turner congenital myopathy Thomsen and Becker disease	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:2101	vulva squamous cell carcinoma Aliases: Vulvar Epidermoid carcinoma vulvar squamous cell carcinoma	CDC25A CDC25B SFN	2810 993 994	Homo sapiens (human)	Alliance of Genome Resources
DOID:206	hereditary multiple exostoses Aliases: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas	EXT1 EXT2 EXTL1 EXTL3	2131 2132 2134 2137	Homo sapiens (human)	Alliance of Genome Resources
DOID:2058	chronic mucocutaneous candidiasis	CLEC7A IL17F IL17RC TRAF3IP2	10758 112744 64581 84818	Homo sapiens (human)	Alliance of Genome Resources
DOID:2055	post-traumatic stress disorder Aliases: PTSD traumatic neurosis	ADCYAP1R1 BAX BDNF CASP9 GRIN2A HSPA5 IL2 MDM2 NR3C1 NTRK2 OPRM1 PDIA3 WFS1	117 2903 2908 2923 3309 3558 4193 4915 4988 581 627 7466 842	Homo sapiens (human)	Alliance of Genome Resources
DOID:2048	autoimmune hepatitis Aliases: Autoimmune chronic active hepatitis autoimmune hepatitis with centrilobular necrosis	ADIPOQ CTLA4 DNASE1 F2 FAS HLA-DPB1 HLA-DQB1 HLA-DRB1 HRAS IL21 IL2 IL4 KIR2DL2 PDCD1 PDIA3 STAT4 TNF VEGFA ZFHX3	1493 1773 2147 2923 3115 3119 3123 3265 355 3558 3565 3803 463 5133 59067 6775 7124 7422 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:2044	drug-induced hepatitis Aliases: Drug-induced chronic hepatitis	ABCC2 CYP2E1 HMGCR	1244 1571 3156	Homo sapiens (human)	Alliance of Genome Resources
DOID:2043	hepatitis B Aliases: chronic hepatitis B hepatitis B infection	CA9 CCL5 CCR3 CCR5 CD68 CTLA4 CTNNB1 CYP27B1 DOCK8 EFTUD2 EIF2AK2 FAS FASLG HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 IFNA2 IFNAR2 IFNGR1 IL10 IL10RB IL2 IL2RB IL4 IL6 KIR3DS1 MAP4K4 MBL2 MPL MYD88 PDCD1 PLAU PLAUR PREX2 SAMHD1 TLR3 TLR9 TNF TREM1 UGT1A1 UGT1A6 XRCC1	1232 1234 1493 1499 1594 25939 3113 3115 3117 3119 3440 3455 3459 355 3558 356 3560 3565 3569 3586 3588 3813 4153 4352 4615 5133 5328 5329 54106 54210 54578 54658 5610 6352 7098 7124 7515 768 80243 81704 9343 9448 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:2033	communication disorder	COL6A3 DDB1	1293 1642	Homo sapiens (human)	Alliance of Genome Resources

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