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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 **14776 - 14800** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0080730	Ehlers-Danlos syndrome cardiac valvular type	Col1a2	84352	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070049	autosomal dominant intellectual developmental disorder 19 Aliases: MRD19 autosomal dominant mental retardation 19 autosomal dominant non-syndromic intellectual disability 19	Ctnnb1	84353	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080264	exudative vitreoretinopathy 7 Aliases: EVR7	Ctnnb1	84353	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1911	endodermal sinus tumor Aliases: Hepatoid yolk sac tumour Yolk Sac neoplasm Yolk sac tumour endodermal sinus tumour infantile embryonal carcinoma yolk sac tumor	Ctnnb1	84353	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:5374	pilomatrixoma Aliases: Pilomatricoma benign pilomatricoma	Ctnnb1	84353	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050699	Dent disease Aliases: Dent disease 1 Dent disease 2 Dent's disease	Clcn3	84360	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111815	low molecular weight proteinuria with hypercalciuric nephrocalcinosis	Clcn3	84360	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0090131	complex cortical dysplasia with other brain malformations Aliases: CDCBM	Hcn1	84390	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080429	developmental and epileptic encephalopathy 24 Aliases: DEE24 early infantile epileptic encephalopathy 24	Hcn1	84390	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111296	generalized epilepsy with febrile seizures plus 10 Aliases: GEFS+10 GEFSP10 generalised epilepsy with febrile seizures plus 10 generalised epilepsy with febrile seizures plus type 10 generalized epilepsy with febrile seizures plus type 10	Hcn1	84390	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:12117	pulmonary alveolar microlithiasis	Slc34a2	84395	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081074	Teebi hypertelorism syndrome 2	Cdh11	84407	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080631	Elsahy-Waters syndrome Aliases: branchioskeletogenital syndrome	Cdh11	84407	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111526	Mullerian aplasia and hyperandrogenism Aliases: Mullerian duct failure and hyperandrogenism WNT4 deficiency	Wnt4	84426	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050675	Birk-Barel syndrome Aliases: Birk-Barel mental retardation dysmorphism syndrome	Kcnk9	84429	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110852	rhizomelic chondrodysplasia punctata type 2 Aliases: Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency Dhapat Deficiency Dihydroxyacetonephosphate Acyltransferase Deficiency Glyceronephosphate O-Acyltransferase Deficiency Gnpat Deficiency Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency Rcdp2	GNPAT	8443	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	Pomt1	84430	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110297	autosomal recessive limb-girdle muscular dystrophy type 2K Aliases: LGMD2K MDDGC1 limb-girdle muscular dystrophy-intellectual disability syndrome muscular dystrophy limb-girdle type 2K muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1	Pomt1	84430	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050464	Farber lipogranulomatosis Aliases: Farber disease N-laurylsphingosine deacylase deficiency acid ceramidase deficiency	Asah1	84431	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111527	spinal muscular atrophy with progressive myoclonic epilepsy Aliases: Jankovic-Rivera syndrome SMA-PME SMAPME hereditary myoclonus-progressive distal muscular atrophy syndrome	Asah1	84431	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1927	sphingolipidosis Aliases: sphingolipidoses	Asah1	84431	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111957	immunodeficiency 11A Aliases: CARD11 deficiency IMD11A SCID due to CARD11 deficiency severe combined immunodeficiency due to CARD11 deficiency	CARD11	84433	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111958	immunodeficiency 11B Aliases: IMD11B atopic dermatitis, elevated IgE, and eosinophilia immunodeficiency 11B with atopic dermatitis	CARD11	84433	Homo sapiens (human)	Alliance of Genome Resources
DOID:9953	acute biphenotypic leukemia Aliases: mixed phenotype acute leukemia	DOT1L	84444	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081345	congenital myopathy 10B	MEGF10	84466	Homo sapiens (human)	Alliance of Genome Resources

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