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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 **9726 - 9750** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:7305	astroblastoma	Pik3r1	18708	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081139	agammaglobulinemia 7	Pik3r1	18708	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111454	SHORT syndrome Aliases: Aarskog-Ose-Pande syndrome Lipodystrophy-Rieger anomaly-diabetes syndrome Rieger anomaly-partial lipodystrophy syndrome short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay	Pik3r1	18708	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111949	immunodeficiency 36 Aliases: IMD36 activated phosphoinositide 3-kinase delta syndrome 2	Pik3r1	18708	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081001	Cowden syndrome 5	Pik3ca	18706	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080351	CLOVES syndrome Aliases: congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Pik3ca	18706	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111162	epidermal nevus Aliases: nonepidermolytic keratinocytic nevus	Pik3ca	18706	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6498	seborrheic keratosis	Pik3ca	18706	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3450	cutaneous Paget's disease Aliases: Paget's disease of skin cutaneous Paget disease extramammary Paget's disease	Pik3ca	18706	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	Piga	18700	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	Abca12 Cst6 Piga Prss8	18700 73720 74591 76560	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:646	viral encephalitis Aliases: epidemic encephalitis	E2F1 MMP9	1869 4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111040	glycogen storage disease IXd Aliases: GSD IXd GSD due to muscle phosphorylase kinase deficiency GSD type 9D GSD type 9E GSD type IXd GSD type IXe GSD9D X-linked muscke glycogenosis glycogen storage disease due to muscle phosphorylase kinase deficiency glycogen storage disease type 9D glycogen storage disease type 9E glycogen storage disease type IXd glycogen storage disease type IXe glycogenosis due to muscle phosphorylase kinase deficiency glycogenosis type 9D glycogenosis type 9E glycogenosis type IXd glycogenosis type IXe muscle phosphorylase kinase deficiency	Phka1	18679	Mus musculus (house mouse)	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	18675 80752	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1949	cholecystitis Aliases: acute and chronic cholecystitis acute cholecystitis acute on chronic cholecystitis chronic cholecystitis	Abcb4	18670	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070229	intrahepatic cholestasis of pregnancy 3 Aliases: ICP3 pregnancy related cholestasis 3	Abcb4	18670	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070223	progressive familial intrahepatic cholestasis 3 Aliases: MDR3 deficiency PFIC3 progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase	Abcb4	18670	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060750	familial temporal lobe epilepsy 3 Aliases: FMTLE familial mesial temporal lobe epilepsy	Abcb1a Abcb1b	18669 18671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110893	inflammatory bowel disease 13 Aliases: IBD13	Abcb1a Abcb1b	18669 18671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4226	endometrial stromal sarcoma Aliases: ESS Undifferentiated endometrial sarcoma endometrial stromal sarcoma, high grade	ver-4	186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:962	neurofibroma	ver-4	186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:6171	uterine carcinosarcoma Aliases: mixed mullerian sarcoma of uterus	ver-4	186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080523	adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Aliases: hereditary diffuse leukoencephalopathy with spheroids	ver-4	186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2999	granulosa cell tumor Aliases: Granulosa cell neoplasm Granulosa cell tumor, adult type Granulosa cell tumour, sarcomatoid malignant granulosa cell neoplasm	ver-4	186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:5389	oxyphilic adenoma Aliases: Follicular adenoma, oxyphilic cell Oncocytoma	ver-4	186632	Caenorhabditis elegans	Alliance of Genome Resources

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