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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 **6826 - 6850** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0070490	infantile parkinsonism-dystonia 2 Aliases: Brain dopamine-serotonin vesicular transport disease PKDYS2	Slc18a2	214084	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080354	Phelan-McDermid syndrome Aliases: 22q13.3 deletion syndrome monosomy 22q13 syndrome	Shank3 Tcf20	21411 58234	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110868	congenital stationary night blindness 1D Aliases: CSNB1D congenital stationary night blindness 1D autosomal recessive	Slc24a1	214111	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060715	autosomal recessive congenital ichthyosis 6 Aliases: ARCI6	Nipal4	214112	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060563	Char syndrome	Tfap2b	21419	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080678	mucolipidosis III gamma	Gnptg	214505	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080789	Treacher Collins syndrome 1	Tcof1	21453	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060175	succinic semialdehyde dehydrogenase deficiency Aliases: 4-hydroxybutyric aciduria SSADH gamma-hydroxybutyric aciduria	Aldh5a1	214579	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050745	diffuse large B-cell lymphoma Aliases: DLBCL	CARD11 CD22 CD40 CD79B DICER1 EZH2 FCGR2A ICAM1 IL21R IRF4 MKI67 MYD88 PRDM1 SMURF2 TP53	2146 2212 23405 3383 3662 4288 4615 50615 639 64750 7157 84433 933 958 974	Homo sapiens (human)	Alliance of Genome Resources
DOID:5176	renal Wilms' tumor Aliases: Nonanaplastic renal Wilm's tumor Nonanaplastic renal Wilm's tumour renal Wilms' tumour	BMI1 EZH2 SALL1 SUZ12 TEK VEGFA	2146 23512 6299 648 7010 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:8761	acute megakaryocytic leukemia Aliases: Megakaryocytic myelosis Thrombocytic leukaemia	ABCG2 EZH2 JAK3 MRTFA SNCB	2146 3718 57591 6620 9429	Homo sapiens (human)	Alliance of Genome Resources
DOID:707	B-cell lymphoma Aliases: B-cell lymphocytic neoplasm	ABCG2 BRD2 BTK CD40 EZH2 IL21R LGALS1	2146 3956 50615 6046 695 9429 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:14731	Weaver syndrome Aliases: WEAVER-LIKE SYNDROME Weaver-Williams syndrome	EZH2	2146	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060903	thrombosis	ACE2 APOH C5AR1 CD40LG F11 F2 F3 F5 FCGR2A FGB HRG ITGA2 ITGAM MMP1 MMP3 MMP9 P2RY12 PIK3CB PLAU PROC SERPINC1 SERPINE1 TBXAS1 VTN	2147 2152 2153 2160 2212 2244 3273 350 3673 3684 4312 4314 4318 462 5054 5291 5328 5624 59272 64805 6916 728 7448 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:1727	retinal vein occlusion Aliases: Occlusion, of retinal vein	AQP1 AQP4 F2 F5 IL6 ITGA2 MMP2 NRP1 PON1 SERPINE1 SERPINF1 VEGFA VEGFB	2147 2153 3569 358 361 3673 4313 5054 5176 5444 7422 7423 8829	Homo sapiens (human)	Alliance of Genome Resources
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	ANGPT1 F12 F2 F7 HS3ST6 KNG1 MYOF PLG SERPING1	2147 2155 2161 26509 284 3827 5340 64711 710	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080941	acquired angioedema	F12 F2 F7 XPNPEP2	2147 2155 2161 7512	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
DOID:12134	factor VIII deficiency Aliases: Congenital factor VIII disorder Hemophilia A Subhemophilia classic hemophilia A	C3 C5 CFB CFP F2 F8 FCGR2A HLA-DQA1 IFNG IL10 PLAT TFPI TGFB1	2147 2157 2212 3117 3458 3586 5199 5327 629 7035 7040 718 727	Homo sapiens (human)	Alliance of Genome Resources
DOID:12259	hemophilia B Aliases: Congenital factor IX deficiency Congenital factor IX disorder deficiency, functional factor IX factor IX deficiency	F2 F9	2147 2158	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111907	thrombophilia due to thrombin defect Aliases: THPH1 prothrombin-related thrombophilia thrombophilia due to factor 2 defect	F13A1 F2 HABP2	2147 2162 3026	Homo sapiens (human)	Alliance of Genome Resources
DOID:12205	dengue disease Aliases: Dengue Fever breakbone fever classic dengue	CD209 F2 FCGR2A GC IFNL1	2147 2212 2638 282618 30835	Homo sapiens (human)	Alliance of Genome Resources
DOID:2452	thrombophilia Aliases: hypercoagulability state	CD46 F2 FGA HLA-DQA1 PLG PROC SERPINA10 THBD	2147 2243 3117 4179 51156 5340 5624 7056	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:8506	bullous pemphigoid	F2 ICAM1 IL2 VEGFA	2147 3383 3558 7422	Homo sapiens (human)	Alliance of Genome Resources

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