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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 **15626 - 15650** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type Aliases: combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX mental retardation, X-linked 3 methylmalonic aciduria with homocystinuria, type cblX	KEL1	856563	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	KEL1	856563	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080140	multiple congenital anomalies-hypotonia-seizures syndrome 3 Aliases: M syndrome light fixation seizure syndrome	GPI16	856595	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111953	immunodeficiency 23 Aliases: CID due to PGM3 deficiency IMD23 PGM3-CDG PGM3-related congenital disorder of glycosylation combined immunodeficiency due to PGM3 deficiency	PCM1	856652	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:13207	proliferative diabetic retinopathy Aliases: PDR	NPP2	856699	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:13268	porphyria Aliases: Hematoporphyria Porphyrinopathy disorder of porphyrin and hem metabolism disorder of porphyrin metabolism	GLC3	856705	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2750	glycogen storage disease IV Aliases: Amylopectinosis Branching-transferase deficiency glycogenosis Glycogen storage disease 4 Glycogen storage disease, type IV brancher deficiency glycogenosis deficiency of 1,4-alpha-glucan branching enzyme	GLC3	856705	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080569	congenital disorder of glycosylation Ir Aliases: congenital disorder of glycosylation 1r	WBP1	856716	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080554	congenital disorder of glycosylation Ib Aliases: congenital disorder of glycosylation 1b	PMI40	856720	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080722	Kenny-Caffey syndrome type 1	PAC2	856724	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060348	hypoparathyroidism-retardation-dysmorphism syndrome Aliases: HRD syndrome Sanjad-Sakati syndrome hypoparathyroidism with short stature, mental retardation and seizures	PAC2	856724	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:11199	hypoparathyroidism	PAC2	856724	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050477	Liddle syndrome Aliases: Liddle's syndrome Pseudoaldosteronism	RSP5	856862	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050454	periventricular nodular heterotopia Aliases: periventricular heterotopia	RSP5	856862	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080693	Noonan syndrome-like disorder with loose anagen hair 2	GLC7	856870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:7004	ACTH-secreting pituitary adenoma Aliases: ACTH-Producing Pituitary Adenoma Corticotroph adenoma Corticotropinoma	UBP5	856887	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050571	congenital disorder of glycosylation type II	COG3	856901	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050834	CHARGE syndrome Aliases: CHARGE association	CHD1	856911	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0081325	developmental and epileptic encephalopathy 94	CHD1	856911	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060475	myoclonic-atonic epilepsy Aliases: EEOC childhood onset epileptic encephalopathy	CHD1	856911	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:14711	FG syndrome Aliases: Keller syndrome Opitz-Kaveggia syndrome	CASK MED12	8573 9968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060807	syndromic X-linked intellectual disability Najm type Aliases: MICPCH X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome mental retardation and microcephaly with pontine and cerebellar hypoplasia	CASK	8573	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090048	dystonia 16	PRKRA	8575	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111513	metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome Aliases: metaphyseal dysplasia maxillary hypoplasia brachydactyly metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	RUNX2	860	Homo sapiens (human)	Alliance of Genome Resources
DOID:13994	cleidocranial dysplasia Aliases: Marie-Sainton Disease cleidocranial dysostosis	RUNX2	860	Homo sapiens (human)	Alliance of Genome Resources

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