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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 **6876 - 6900** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:2222	factor X deficiency Aliases: disease, Stuart-Prower	F10	2159	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: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: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:1558	angioedema Aliases: Angioneurotic oedema Quincke's edema angioneurotic edema giant urticaria	F12 SERPING1	2161 710	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:0080940	hereditary angioedema type III	F12	2161	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:9286	priapism Aliases: Mentulagra	F13A1 MDM2	2162 4193	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050718	vitamin metabolic disorder	Slc5a12 Slc5a6 Slc5a8	216225 241612 330064	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5463	cochlear disease	Slc17a8 Tnf	216227 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110555	autosomal dominant nonsyndromic deafness 25 Aliases: DFNA25 autosomal dominant deafness 25	Slc17a8 Trpv4	216227 63873	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9784	trichinosis Aliases: Trichinella spiralis infection	Slc17a8	216227	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110136	Bardet-Biedl syndrome 14 Aliases: BBS14	Cep290 Tmem67	216274 329795	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111000	Joubert syndrome 5 Aliases: JBTS5	Cep290	216274	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070118	Meckel syndrome 4 Aliases: MKS4 Meckel-Gruber syndrome, type 4	Cep290	216274	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110291	Leber congenital amaurosis 10 Aliases: LCA10	Cep290	216274	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050576	Senior-Loken syndrome Aliases: Loken Senior syndrome renal-retinal syndrome	Cep290	216274	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10 Aliases: MDDGA10 Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10	Rxylt1	216395	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112218	developmental and epileptic encephalopathy 83 Aliases: DEE83 early infantile epileptic encephalopathy 83	Ugp2	216558	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060745	Doyne honeycomb retinal dystrophy Aliases: DHRD Doyne honeycomb degeneration of retina	Efemp1	216616	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080733	Ehlers-Danlos syndrome dermatosparaxis type	Adamts2	216725	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070443	neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	Gemin5	216766	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110479	autosomal recessive nonsyndromic deafness 21 Aliases: DFNB21 autosomal recessive deafness 21	Tecta	21683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110544	autosomal dominant nonsyndromic deafness 12 Aliases: DFNA12 DFNA8 autosomal dominant deafness 12 autosomal dominant deafness 8	Tecta	21683	Mus musculus (house mouse)	Alliance of Genome Resources

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