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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 **5951 - 5975** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:2215	factor VII deficiency Aliases: deficiency, stable	F7	260320	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2235	prothrombin deficiency Aliases: Congenital factor II deficiency Hereditary factor II deficiency disease hypoprothrombinemia	F7	260320	Rattus norvegicus (Norway rat)	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 Vwf	14069 16398 22371	Mus musculus (house mouse)	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	14069	Mus musculus (house mouse)	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: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:0080839	X-linked warfarin sensitivity	F9	14071	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111899	X-linked thrombophilia due to factor IX defect Aliases: THPH8	F9	14071	Mus musculus (house mouse)	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:0080839	X-linked warfarin sensitivity	F9	2158	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080839	X-linked warfarin sensitivity	F9	24946	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:12259	hemophilia B Aliases: Congenital factor IX deficiency Congenital factor IX disorder deficiency, functional factor IX factor IX deficiency	F9	24946	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111899	X-linked thrombophilia due to factor IX defect Aliases: THPH8	F9	24946	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110786	hereditary spastic paraplegia 35 Aliases: FAHN SPG35 autosomal recessive spastic paraplegia 35 autosomal recessive spastic paraplegia type 35 fatty acid hydroxylase-associated neurodegeneration leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia	FA2H	79152	Homo sapiens (human)	Alliance of Genome Resources
DOID:83	cataract	FAB1 GCY1 GLR1 HSF1 OGG1 SOR1 SOR2 VVS1 XYL2 YPR1 ZWF1	850574 850759 851351 851974 852543 852806 853624 854287 854942 855480 856014	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060448	Fleck corneal dystrophy Aliases: FCD Francois-Neetens speckled corneal dystrophy	FAB1	850574	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:5804	discrete subaortic stenosis	FADS2	9415	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110365	retinitis pigmentosa 28 Aliases: RP28	FAM161A	84140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110066	amelogenesis imperfecta type 1G Aliases: AI1G AIGFS ERS amelogenesis imperfecta and gingival fibromatosis syndrome amelogenesis imperfecta hypoplastic with nephrocalcinosis amelogenesis imperfecta type IG enamel-renal syndrome enamel-renal-gingival syndrome	FAM20A	54757	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050445	X-linked dominant hypophosphatemic rickets Aliases: Hypophosphatemia, Vitamin D-Resistant Rickets Vitamin D-Resistant Rickets, X-Linked X-linked hypophosphatemia hypophosphatemic rickets X-linked dominant	FAM20C PHEX	5251 56975	Homo sapiens (human)	Alliance of Genome Resources
DOID:2187	amelogenesis imperfecta	FAM20C	56975	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111098	Fanconi anemia complementation group B Aliases: FACB FANCB Fanconi pancytopenia type 2	FANCB	2187	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111083	Fanconi anemia complementation group D2 Aliases: FA4 FAD2 FANCD2 Fanconi pancytopenia type 4	FANCD2	2177	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111086	Fanconi anemia complementation group G Aliases: FANCG	FANCG	2189	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080872	primary ovarian insufficiency 15	FANCM	57697	Homo sapiens (human)	Alliance of Genome Resources

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