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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 **1801 - 1825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0111503	Li-Fraumeni syndrome 1 Aliases: LFS1	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:5940	malignant peripheral nerve sheath tumor Aliases: malignant neoplasm of the peripheral nerve Sheath	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:7614	meninges sarcoma Aliases: Meningeal sarcoma sarcoma of meninges	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:2626	choroid plexus papilloma Aliases: childhood choroid plexus papilloma	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:3012	Li-Fraumeni syndrome Aliases: LFS Li-Fraumeni Familiar cancer Susceptibility syndrome SBLA syndrome sarcoma, breast, leukaemia and adrenal gland syndrome	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111524	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 Aliases: PEOB5 autosomal recessive progressive external ophthalmoplegia 5	TOP3A	7156	Homo sapiens (human)	Alliance of Genome Resources
DOID:11624	penile benign neoplasm Aliases: Penile tumor neoplasm of penis	PTGES TOP2A	7153 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:2115	B cell deficiency Aliases: B cell (antibody) deficiencies Immunoglobulin heavy chain deficiency immunoglobulin heavy chain deletion	TOP2A TOP2B	7153 7155	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080986	Ehlers-Danlos syndrome periodontal type 1	C1R	715	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111809	syndromic microphthalmia 2 Aliases: ANOP2 MAA2 MCOPS2 OFCD syndrome cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome microphthalmia cataracts radiculomegaly and septal heart defects oculofaciocardiodental syndrome syndromic microphthalmia type 2	Bcor	71458	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111799	syndromic microphthalmia 1 Aliases: Lenz dysplasia Lenz microphthalmia Lenz type microphthalmia MCOPS1	Bcor	71458	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090093	hypogonadotropic hypogonadism 21 with or without anosmia	Flrt3	71436	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110313	hypertrophic cardiomyopathy 7 Aliases: CMH7 cardiomyopathy, familial hypertrophic 7	TNNI3	7137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111425	restrictive cardiomyopathy 1 Aliases: RCM1 familial restrictive cardiomyopathy 1	TNNI3	7137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110460	dilated cardiomyopathy 2A Aliases: CMD2A	TNNI3	7137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110459	dilated cardiomyopathy 1FF Aliases: CMD1FF	TNNI3	7137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090018	autosomal dominant familial periodic fever Aliases: FHF FPF TNF receptor associated periodic syndrome TRAPS familial Hibernian fever hibernian fever tumor necrosis factor receptor associated periodic syndrome	TNFRSF1A	7132	Homo sapiens (human)	Alliance of Genome Resources
DOID:3355	fibrosarcoma Aliases: Fibrocytic tumor fibrosarcoma of soft tissue fibrous tissue neoplasm	CDC42 TNFRSF1A	7132 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050157	cryptogenic organizing pneumonia Aliases: BOOP Cryptogenic organising pneumonitis Cryptogenic organizing pneumonitis bronchiolitis obliterans organising pneumonia bronchiolitis obliterans organizing pneumonia cryptogenic organising pneumonia idiopathic bronchiolitis obliterans with organising pneumonia idiopathic bronchiolitis obliterans with organizing pneumonia	TNFRSF1A TNFRSF1B	7132 7133	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070357	nephrotic syndrome type 20	Tbc1d9 Tbc1d9b	71310 76795	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080311	X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance	Arhgap26	71302	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080944	familial Behcet-like autoinflammatory syndrome Aliases: A20 haploinsufficiency	TNFAIP3	7128	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111278	histiocytosis-lymphadenopathy plus syndrome Aliases: Faisalabad histiocytosis H syndrome HJCD PHID Rosai–Dorfman disease SHML cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss familial Rosai-Dorfman disease histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness histiocytosis with joint contractures and sensorineural deafness pigmented hypertrichosis with insulin-dependent diabetes mellitus sinus histiocytosis and massive lymphadenopathy	Slc29a3	71279	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14453	farmer's lung Aliases: Farmers lung farmer lung	TNF	7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:13452	scleritis	TNF	7124	Homo sapiens (human)	Alliance of Genome Resources

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