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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 **12751 - 12775** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0070229	intrahepatic cholestasis of pregnancy 3 Aliases: ICP3 pregnancy related cholestasis 3	ABCB4	5244	Homo sapiens (human)	Alliance of Genome Resources
DOID:1949	cholecystitis Aliases: acute and chronic cholecystitis acute cholecystitis acute on chronic cholecystitis chronic cholecystitis	ABCB4	5244	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111678	hereditary folate malabsorption Aliases: congenital defect of folate absorption congenital folate malabsorption	Slc46a1	52466	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	5251 56975	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	5255	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111042	glycogen storage disease IXa Aliases: GSD type 9A GSD type IXa GSD9A glycogen storage disease type 9A glycogen storage disease type IXa glycogenosis type 9A glycogenosis type IXa	PHKA2	5256	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111041	glycogen storage disease IXb Aliases: GSD IXb GSD due to liver and muscle phosphorylase kinase deficiency GSD type 9B GSD type IXb GSD9B glycogen storage disease type 9B glycogen storage disease type IXb glycogenosis due to liver and muscle phosphorylase kinase deficiency glycogenosis type 9B glycogenosis type IXb	PHKB	5257	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111043	glycogen storage disease IXc Aliases: GSD type 9C GSD type IXc GSD9C glycogen storage disease type 9C glycogen storage disease type IXc glycogenosis type 9C glycogenosis type IXc	PHKG2	5261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060186	chemical colitis	SERPINA1	5265	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110536	autosomal recessive nonsyndromic deafness 91 Aliases: DFNB91 autosomal recessive deafness 91	SERPINB6	5269	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070472	early-onset epilepsy 3 Aliases: EPEO3	ATP6V0C	527	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050694	Brown-Vialetto-Van Laere syndrome	Slc52a2 Slc52a3	52710 69698	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8454	riboflavin deficiency Aliases: ariboflavinosis vitamin B2 deficiency	Slc52a2	52710	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080786	Brown-Vialetto-Van Laere syndrome 2	Slc52a2	52710	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	5277	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081223	glycosylphosphatidylinositol biosynthesis defect 16 Aliases: Intellectual developmental disorder, autosomal recessive 62	PIGC	5279	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070140	autosomal recessive cutis laxa type IIC	ATP6V1E1	529	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081001	Cowden syndrome 5	PIK3CA	5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:3450	cutaneous Paget's disease Aliases: Paget's disease of skin cutaneous Paget disease extramammary Paget's disease	PIK3CA	5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080351	CLOVES syndrome Aliases: congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	PIK3CA	5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111936	immunodeficiency 14 Aliases: APDS IMD14 PASLI disease activated PI3K-delta syndrome senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation	PIK3CD	5293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050211	swine influenza	PIK3CG	5294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112347	hereditary spastic paraplegia 84 Aliases: SPG84 spastic paraplegia 84 autosomal recessive	PI4KA	5297	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050647	Arts syndrome Aliases: ARTS Lethal ataxia with deafness and optic atrophy MRXS18 MRXSARTS fatal X-linked ataxia with deafness and loss of vision syndromic X-linked mental retardation 18 syndromic X-linked mental retardation Arts type	PITX2 PRPS1 PRPSAP1	5308 5631 5635	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080609	anterior segment dysgenesis 4	PITX2	5308	Homo sapiens (human)	Alliance of Genome Resources

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