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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 **4751 - 4775** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0081115	benign familial infantile seizures 2 Aliases: Benign Familial Infantile Seizures, 2	Prrt2	69017	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081116	benign familial infantile seizures 3 Aliases: Benign Familial Infantile Seizures, 3 benign familial neonatal-infantile seizures	Scn2a	110876	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081116	benign familial infantile seizures 3 Aliases: Benign Familial Infantile Seizures, 3 benign familial neonatal-infantile seizures	SCN2A	6326	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081116	benign familial infantile seizures 3 Aliases: Benign Familial Infantile Seizures, 3 benign familial neonatal-infantile seizures	para	32619	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081116	benign familial infantile seizures 3 Aliases: Benign Familial Infantile Seizures, 3 benign familial neonatal-infantile seizures	Scn2a	24766	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081118	benign familial infantile seizures 5 Aliases: Benign Familial Infantile Seizures, 5	Scn8a	29710	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081118	benign familial infantile seizures 5 Aliases: Benign Familial Infantile Seizures, 5	SCN8A	6334	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081118	benign familial infantile seizures 5 Aliases: Benign Familial Infantile Seizures, 5	Scn8a	20273	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081118	benign familial infantile seizures 5 Aliases: Benign Familial Infantile Seizures, 5	para	32619	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081119	benign familial infantile seizures 6 Aliases: Autosomal dominant nocturnal frontal lobe epilepsy Benign Familial Infantile Seizures, 6 nocturnal frontal lobe epilepsy-4	CHRNA2	1135	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081119	benign familial infantile seizures 6 Aliases: Autosomal dominant nocturnal frontal lobe epilepsy Benign Familial Infantile Seizures, 6 nocturnal frontal lobe epilepsy-4	nAChRbeta2	42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081119	benign familial infantile seizures 6 Aliases: Autosomal dominant nocturnal frontal lobe epilepsy Benign Familial Infantile Seizures, 6 nocturnal frontal lobe epilepsy-4	Chrna2	110902	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081119	benign familial infantile seizures 6 Aliases: Autosomal dominant nocturnal frontal lobe epilepsy Benign Familial Infantile Seizures, 6 nocturnal frontal lobe epilepsy-4	Chrna2	170945	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081119	benign familial infantile seizures 6 Aliases: Autosomal dominant nocturnal frontal lobe epilepsy Benign Familial Infantile Seizures, 6 nocturnal frontal lobe epilepsy-4	unc-63	172150	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0081120	Graves ophthalmopathy Aliases: Graves orbitopathy Thyroid associated ophthalmopathy thyroid eye disease	srp-3	178672	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0081120	Graves ophthalmopathy Aliases: Graves orbitopathy Thyroid associated ophthalmopathy thyroid eye disease	Ccl2 Ctla4 Icam1 Ifng Il10 Il1a Il1rn Il23r Il2 Il3 Pparg Tnf Tshr	12477 15894 15978 16153 16175 16181 16183 16187 19016 20296 209590 21926 22095	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081120	Graves ophthalmopathy Aliases: Graves orbitopathy Thyroid associated ophthalmopathy thyroid eye disease	Ccl2 Icam1 Ifng Il10 Il1a Il1rn Il2 Pparg Serpine1 Tnf Tshr	116562 24493 24617 24770 24835 25325 25360 25464 25664 25712 60582	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081120	Graves ophthalmopathy Aliases: Graves orbitopathy Thyroid associated ophthalmopathy thyroid eye disease	CAT CCL2 CTLA4 ICAM1 IFNG IL10 IL1A IL1RN IL23R IL2 IL3 PPARG SERPINE1 TNF TSHR	149233 1493 3383 3458 3552 3557 3558 3562 3586 5054 5468 6347 7124 7253 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081122	Catel Manzke syndrome Aliases: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome Micrognathia digital syndrome	TGDS	23483	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081123	X-linked mental retardation Gustavson type Aliases: mental retardation with optic atrophy, deafness and seizures	Rbmx	19655	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081123	X-linked mental retardation Gustavson type Aliases: mental retardation with optic atrophy, deafness and seizures	RBMX	27316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081124	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1	TMCO1	54499	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081125	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2	RAB5IF	55969	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081126	DeSanto-Shinawi syndrome Aliases: Chromosome 10p12-p11 deletion syndrome Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome	WAC	51322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081126	DeSanto-Shinawi syndrome Aliases: Chromosome 10p12-p11 deletion syndrome Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome	Wac	225131	Mus musculus (house mouse)	Alliance of Genome Resources

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