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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 **9076 - 9100** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
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:0080940	hereditary angioedema type III	F12	2161	Homo sapiens (human)	Alliance of Genome Resources
DOID:1558	angioedema Aliases: Angioneurotic oedema Quincke's edema angioneurotic edema giant urticaria	F12 SERPING1	2161 710	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110084	arrhythmogenic right ventricular dysplasia 13 Aliases: ARVC13 ARVD13 arrhythmogenic right ventricular cardiomyopathy 13 familial arrhythmogenic right ventricular dysplasia 13	Ctnna3	216033	Mus musculus (house mouse)	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:3490	Noonan syndrome Aliases: Turner's phenotype, karyotype normal	CBL F11 IGFALS KAT6B KRAS PLAT PLG PTPN11 RAF1 SERPINE1 SOS1	2160 23522 3483 3845 5054 5327 5340 5781 5894 6654 867	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:0080839	X-linked warfarin sensitivity	F9	2158	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111899	X-linked thrombophilia due to factor IX defect Aliases: THPH8	F9	2158	Homo sapiens (human)	Alliance of Genome Resources
DOID:801	hemarthrosis Aliases: Haemarthrosis of shoulder joint Haemarthrosis of the ankle and foot Haemarthrosis of the pelvic region and thigh Hemarthrosis involving ankle and foot Hemarthrosis involving forearm Hemarthrosis involving hand Hemarthrosis involving lower leg Hemarthrosis involving pelvic region and thigh Hemarthrosis involving shoulder region Hemarthrosis involving upper arm Hemarthrosis of ankle and/or foot Hemarthrosis of forearm Hemarthrosis of hand Hemarthrosis of lower leg Hemarthrosis of shoulder Hemarthrosis of shoulder region Hemarthrosis of the ankle and foot Hemarthrosis of the ankle and/or foot Hemarthrosis of the forearm Hemarthrosis of the hand Hemarthrosis of the lower leg Hemarthrosis of the pelvic region and thigh Hemarthrosis of the shoulder region Hemarthrosis of the upper arm Hemarthrosis of upper arm	F8	2157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060574	von Willebrand's disease 2 Aliases: VWD type 2 VWD2 von Willebrand disease type 2 von Willebrand disease type II	F8 ITGA2 ITGA2B VWF	2157 3673 3674 7450	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070338	cerebellar hypoplasia	Nav1	215690	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2215	factor VII deficiency Aliases: deficiency, stable	F7	2155	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	Pomgnt2	215494	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111231	congenital muscular dystrophy-dystroglycanopathy type A8 Aliases: MDDGA8 Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8	Pomgnt2	215494	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111902	thrombophilia due to activated protein C resistance Aliases: APC resistance PCCF deficiency PROC cofactor deficiency THPH2 activated protein C resistance thrombophilia V thrombophilia due to deficiency of activated protein C cofactor	F5 PROC	2153 5624	Homo sapiens (human)	Alliance of Genome Resources
DOID:999	hypereosinophilic syndrome Aliases: Eosinophilic leukocytosis eosinophilia	F5 PDGFRA	2153 5156	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:8483	retinal artery occlusion	F5 IL10 IL6 LPA	2153 3569 3586 4018	Homo sapiens (human)	Alliance of Genome Resources
DOID:11512	Budd-Chiari syndrome Aliases: hepatic vein thrombosis	APOA1 F5	2153 335	Homo sapiens (human)	Alliance of Genome Resources
DOID:4138	bile duct disease Aliases: bile duct disorder disorder of bile duct	F3	2152	Homo sapiens (human)	Alliance of Genome Resources
DOID:12531	von Willebrand's disease Aliases: vascular hemophilia vascular pseudohemophilia von Willebrand disease von Willebrand disorder von Willebrand's-Jurgens' disease von Willebrand-Jrgens disease	F3 VWF	2152 7450	Homo sapiens (human)	Alliance of Genome Resources
DOID:3410	carotid artery thrombosis	F3 THBD	2152 7056	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111144	preterm premature rupture of the membranes Aliases: PPROM	F3 SERPINH1 TFPI	2152 7035 871	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060318	acute promyelocytic leukemia Aliases: acute myeloblastic leukaemia type 3 acute myeloblastic leukemia type 3 acute myeloid leukaemia M3 acute myeloid leukemia M3 acute promyelocytic leukaemia	F3 KMT2E MYC NCAM1 PLAT SENP7	2152 4609 4684 5327 55904 57337	Homo sapiens (human)	Alliance of Genome Resources

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